All human diseases can be divided into groups and systematized according to a number of characteristics. Thus, according to the nature of the course of diseases, they are divided into acute and chronic. Diseases can also be congenital or acquired. The causes of congenital diseases are inherited by a person from parents (through blood), the causes of acquired diseases are determined by the external environment surrounding the person.

Diseases can be divided into groups by the name of the affected organs or systems. Let's take a closer look at these groups and some of the diseases in them.

1. Respiratory diseases. The respiratory system includes the lungs, bronchi, larynx, and nasopharynx, which are involved in external respiration. Internal respiration also occurs in the human body, i.e., the transfer of oxygen from the blood to the cells of various tissues. Impaired external respiration can occur due to such disorders of the lungs and bronchi as:

Inflammatory processes in the lungs, leading to a decrease in the mass of ventilated alveoli;

Formation of scar connective tissue after an inflammatory process in the lungs (pneumosclerosis, pneumofibrosis), which reduces the mass of ventilated alveoli and reduces the elasticity of the lungs;

A decrease in air conductivity of the bronchi and bronchioles, an increase in their resistance to air flow due to various reasons - spasm, edema, cicatricial narrowing of the bronchi;

Pulmonary emphysema, which develops as a result of increased bronchial resistance to air flow, overextension and disappearance of a significant part of the alveoli.

Deformation of the chest, weakness of the respiratory muscles, and especially the diaphragm, adhesions between the pleural layers create great difficulties for respiratory excursions of the chest. The act of breathing requires more energy expenditure, which contributes to the development and progression of pulmonary failure.

The following symptoms are typical for respiratory diseases.

1. Shortness of breath, i.e. difficulty breathing, causing an increase in its frequency by more than 14–16 breaths per minute, depth and rhythm. Shortness of breath is characteristic of acute pneumonia, effusion pleurisy, bronchial asthma, intoxication with toxic substances, etc.

2. Cyanosis– bluish coloration of the skin. This symptom usually indicates insufficient oxygen saturation of the blood in various lung diseases (emphysema, pneumosclerosis, etc.). Cyanosis of the lips, tip of the nose, ears, fingers and toes is largely associated with poor heart function.

3. Dull percussive tone. It is detected by percussion of the chest and indicates compaction and decreased airiness of the lung, which may be a consequence of pneumonia or a lung tumor, or the presence of fluid in the lung.

4. Tympanic pulmonary tone, which occurs when the lungs are percussed when their airiness is increased (pulmonary emphysema), and when air enters the pleural cavity (pneumothorax).

5. Weakening of vesicular respiration. It is determined by auscultation of the lungs and is a sign of pulmonary emphysema.

6. Hard breathing– coarser and more sonorous vesicular – occurs with bronchitis and acute pneumonia.

7. Bronchial breathing– determined by pronounced compaction of the lung tissue (lobar pneumonia).

8. Dry wheezing in the lungs during auscultation - occur when there is thick, viscous sputum in the bronchi.

9. Creeping rales– heard when effusion appears in the alveoli (lobar pneumonia).

10. Fine bubble moist rales– manifest themselves when inflammatory secretions accumulate in the small bronchi during pneumonia.

11. Medium bubbling moist rales– occur in medium-sized bronchi during bronchitis.

12. Large bubbling rales– are formed in large bronchi, most often this is associated with heart failure and stagnation of fluid in the lungs.

The most common type of respiratory disease is acute respiratory disease (ARI).

Acute respiratory diseases. Acute respiratory infections occur with symptoms of damage to the mucous membranes of the respiratory tract (nasopharynx, larynx, trachea and bronchi), the mucous membrane of the eyes (conjunctivitis) and pneumonia, which is a common complication of acute respiratory diseases. Both isolated cases and epidemics of these diseases are possible.

Acute respiratory infections are caused by various viruses (influenza viruses, parainfluenza, adenoviruses, etc.). The disease spreads by airborne droplets.

Symptoms include general malaise; constant headache, pain in the eyeballs, muscle pain; feeling of heat, increased body temperature, chills, sweating; runny nose, sore throat and hoarseness, redness of the mucous membranes of the throat; dry cough; lacrimation.

Treatment depends on the severity of the disease. The patient is provided with rest, bed rest and fortified nutrition are indicated. If necessary, you can mitigate symptoms with medications. In severe cases and when complications of the disease occur, antibiotics or drugs with similar effects are used.

2. Diseases of the cardiovascular system. Such diseases occur when the functions of the cardiovascular system are impaired, which is a consequence of damage to the heart and blood vessels. Diseases of the cardiovascular system can be caused by a number of reasons, such as:

Inflammatory changes in the heart muscle, causing replacement of muscle fibers with connective tissue (development of cardiosclerosis). This leads to a decrease in myocardial contractility and the development of heart failure, characteristic of rheumatism;

Narrowing of the openings between the left atrium and the left ventricle, between the left ventricle and the aorta, leading to a delay in the movement of blood and its insufficient flow into the systemic circulation;

Incomplete closure of the valves between the right atrium and the right ventricle, between the left atrium and the left ventricle, between the left ventricle and the aorta, resulting in abnormal return of blood from the right ventricle to the right atrium, from the left ventricle to the left atrium, and from the aorta to the left ventricle. As a result, hemodynamics are disrupted and heart function becomes difficult;

Spasm of small arteries and arterioles, leading to increased resistance to blood flow and increased blood pressure. This is typical for patients with hypertension and symptomatic hypertension;

Deposition of cholesterol and lime in the walls of the arteries in combination with spasm of the arteries, leading to narrowing of the lumen of blood vessels and dysfunction of the affected organs (brain, heart, kidneys);

A metabolic disorder that causes deposition of cholesterol, calcium salts in the walls of the coronary arteries of the heart, and narrowing of the coronary arteries of the heart. This causes disruption of the nutrition of the heart muscle and replacement of muscle fibers with connective tissue (development of cardiosclerosis), which is characteristic of atherosclerosis;

Unfavorable external conditions (lack of oxygen and nutrient supply, inflammatory changes, increased stress, etc.), leading to various dysfunctions of the heart muscle and heart failure (shortness of breath, cardiac asthma, edema, ascites);

Decreased vascular tone, which can cause vascular insufficiency (fainting, shock).

Among the symptoms of diseases of the cardiovascular system are the following.

1. Increase or decrease in blood pressure. Blood pressure in a healthy adult is 120/70 mmHg. Art. with fluctuations of 10 mmHg. Art. Blood pressure increases with age; in childhood it is below the described norm. The first digit in the blood pressure value corresponds to the systolic pressure value, the second - to the diastolic pressure.

2. Limit of relative cardiac dullness, which is determined by percussion (i.e., by the percussion method). In this way the size of the heart is determined. Normally, the border of relative cardiac dullness, corresponding to the apex of the heart (left ventricle), is located on the left in the fifth intercostal space 1.5–2 cm to the right of the left midclavicular line.

3. Heart sounds, determined by auscultation (i.e. by listening). In this case, the first heart sound indicates contraction of the ventricles and is best heard at the apex of the heart. A weakening of this tone may indicate the presence of a disease. The second sound corresponds to the end of systole and the closure of the aortic and pulmonary artery valves. Above the mouth of the aorta, it is heard in the second intercostal space to the right of the sternum, above the projection of the pulmonary valves - in the second intercostal space to the left of the chest. The second tone can be weakened, strengthened, split and bifurcated.

4. Heart murmur, manifested in the phase of systole (systolic) and diastole (diastolic). Among the diseases of the cardiovascular system, the main ones are the following.

Rheumatism. This is a chronic disease of an infectious-allergic nature, which causes harm to all human organs and systems. The greatest damaging effect is felt by the blood vessels, heart (all its membranes), joints, lungs and nervous system. During the course of the disease, there is a change in the active and inactive phases of rheumatism. According to the nature of the course, acute, subacute, protracted, continuously relapsing and latent course of the disease is distinguished.

Rheumatism may be a consequence of a chronic inflammatory process in the palatine tonsils. Exacerbation of rheumatism is often caused by previous tonsillitis or scarlet fever.

Symptoms of rheumatism include: general malaise, weakness, decreased appetite, sweating; pain in large joints (elbows, knees, shoulders, etc.), dull pain in the left half of the chest; shortness of breath; palpitations, pallor of the skin, rosy cheeks with a cyanotic tint, cyanosis of the lips, nose, fingertips; swelling of the joints, increased temperature in the joint area, joint pain and limited mobility.

Rheumatism affects the human nervous system. In children and adolescents, rheumatic changes in the nervous system can manifest as chorea, the main symptoms of which are involuntary muscle contractions, erratic motor restlessness, poor coordination of movements, muscle weakness, tearfulness, and irritability. Skin manifestations of rheumatism are possible in the form of pale pink, less often red or bluish-pink closed or semi-closed rings (erythema) or infiltrates on the skin ranging in size from a pea to a red-violet plum.

Treatment carried out in a hospital. The patient must remain in bed and be provided with rest. The patient's food should not contain excess fat and salt. As a preventive measure, the patient is given oxygen to breathe.

Heart defects. These are lesions of the valve apparatus, which can be congenital or acquired.

Mitral valve insufficiency– a defect resulting from rheumatism, atherosclerosis and sepsis. The disease manifests itself in incomplete closure of the left atrioventricular orifice, which leads to blood entering the left atrium during systole.

Symptoms: shortness of breath and palpitations even with little physical exertion, increased cardiac dullness to the left, systolic murmur at the apex of the heart.

Narrowing of the left mitral orifice- a defect in which the passage of blood from the left atrium to the left ventricle is difficult. This leads to stagnation of blood not only in the pulmonary circulation, but also in the systemic circulation.

Symptoms: shortness of breath and palpitations not only during physical activity, but also at rest; a cough develops, sometimes with hemoptysis; attacks of suffocation; swelling in the legs; increase in liver size; decrease in systolic and increase in diastolic pressure; systolic murmur in the prediastolic state.

Combined mitral heart disease- a disease that develops as a result of rheumatism, manifesting itself initially in valve insufficiency, and then in narrowing of the orifices.

Symptoms: blush on the cheeks with a bluish tint; blueness of the tip of the nose, ears, lips; heart rhythm disturbances, decreased systolic and increased diastolic pressure; swelling in the legs; fluid in the abdominal and pleural cavities.

Aortic valve insufficiency– a defect leading to incomplete closure of the aortic mouth during diastole. As a result, part of the blood flows back into the left ventricle, which is overloaded with excess blood volume, as a result of which it significantly increases and hypertrophies. The disease most often develops as a result of rheumatic or septic endocarditis, atherosclerosis, and can also be a consequence of syphilitic damage to the aorta.

Symptoms: dizziness and headache; dull pain in the left side of the chest; pale skin; expansion of the boundaries of cardiac dullness; increased heart rate; noticeable swaying of the head with palpitations.

Narrowing (stenosis) of the aortic wall– disruption of the left ventricle as a result of obstruction in the movement of blood from the left ventricle to the aorta.

Symptoms: palpitations, shortness of breath, pain in the heart area; pale skin; rare pulse of reduced intensity; increased systolic pressure; systolic trembling in the sternum; weakening of heart sounds; systolic murmurs at the apex of the heart.

Combined aortic disease– aortic valve insufficiency and aortic stenosis. This defect is more common than isolated insufficiency and stenosis, since the rheumatic process, together with damage to the valves, causes fusion of their edges and narrowing of the aortic mouth. Aortic valve insufficiency usually precedes the development of aortic stenosis.

Treatment. Patients suffering from heart defects require treatment of the underlying disease that led to the heart defect (rheumatism, atherosclerosis, syphilis), and measures aimed at eliminating signs of heart failure.

Patients must remain in bed. They need high-calorie, lean, vitamin-rich food, which must be taken in fractional doses. The amount of liquid drunk should not exceed the volume of urine excreted the day before by more than 100–200 ml. In the presence of edema, limit salt intake to 4 g per day. Periodically, fasting apple or milk days are carried out, which help remove excess fluid from the body.

As medicinal treatment, sedatives and hypnotics are used: bromine, valerian tincture, phenobarbital, noxiron.

Strophanthin, which is prescribed 3-4 days after the withdrawal of digitalis, has a very strong effect. It is administered intravenously at 0.5–1 ml of a 0.05% solution. A good effect is obtained by combining strophanthin with intravenous administration of 5-10 ml of a 2.4% solution of aminophylline. To improve urine output, 1 ml of Novurit or another diuretic is injected intramuscularly.

Patients with heart defects also benefit from breathing oxygen through a nasal catheter or in an oxygen tent. It is necessary to constantly monitor the convergence of edema, measure the daily amount of urine daily, and systematically weigh the patient.

Hypertension. This is a chronic disease that occurs with an increase in systolic and diastolic blood pressure, and hypertension is the main symptom of hypertension. The course of hypertension can be divided into three stages:

– Stage I, in which, under the influence of external factors, blood pressure rises for a short period of time and normalizes on its own;

– Stage II, in which blood pressure is unstable. With treatment, it decreases to normal levels, but under the influence of various external factors it easily rises again;

– Stage III, when hypertension causes the development of organic changes in small vessels and irreversible organic changes in the heart, brain and kidneys.

Based on the type of organs affected, three forms of hypertension are distinguished:

Cardiac hypertension;

Cerebral hypertension;

Renal hypertension.

In practice, it is quite difficult to distinguish between these forms, since they are often combined.

Symptoms depend on the stage and form of the disease. Hypertension of stages I and II is characterized by the presence of headache, mainly in the occipital region, which intensifies after mental and physical stress; feeling of heaviness in the head; sensations of pulsation of blood vessels in the temples, neck; feeling of a “tide” to the head; flashing “flies” before the eyes; dizziness; numbness of fingers; shortness of breath; heartbeat; increased blood pressure.

The course of the disease depends on the form of the disease and the severity of atherosclerosis. Patients with the cardiac form of hypertension experience attacks of angina, which can lead to acute myocardial infarction. Patients with cerebral hypertension suffer from changes in the blood vessels of the brain; they may experience hypertensive crises and cerebral hemorrhages. The renal form of hypertension is characterized by impaired renal function and the development of secondary renal failure.

Treatment aimed at normalizing the function of the central nervous system. The patient is prescribed mental rest and sleep for at least 8–9 hours a day. For medications, use 1 tbsp sodium bromide solution. l. 3 times a day, valerian tincture 30–40 drops 3 times a day, luminal 0.05 g at night. Physical therapy exercises are also helpful. Night work, smoking, drinking alcohol, consuming fatty and salty foods, and mental stress are prohibited.

To lower blood pressure, papaverine, dibazole, theobromine are used, and for high blood pressure - reserpine. To more quickly reduce blood pressure, papaverine solution and dibazole solution are administered subcutaneously, magnesium sulfate solution is administered intramuscularly or intravenously.

Hypertensive crisis. This is a sharp increase in blood pressure and a manifestation of exacerbation of the symptoms of hypertension. A hypertensive crisis occurs due to physical and mental stress, weather changes and other reasons.

Symptoms of a hypertensive crisis can be a sharp headache, mainly in the occipital region; irritability, difficulty speaking, head motor skills, dizziness, loss of balance, tinnitus, nausea and vomiting, blurred vision, pain in the heart, palpitations, shortness of breath, drowsiness, increased sweating, chills, a sharp increase in blood pressure.

Treatment. In case of a hypertensive crisis, emergency therapeutic assistance is required. To provide it, the patient is injected intravenously with a dibazole solution and a glucose solution. If symptoms cannot be relieved, a solution of magnesium sulfate is administered intravenously or intramuscularly.

Instead of dibazole and magnesium sulfate, you can administer a solution of papaverine subcutaneously and an intravenous solution of aminophylline with a solution of novocaine. Mustard plasters are placed on the back of the head, lower back and feet. If possible, hirudotherapy (leech treatment) is used. The patient is provided with complete physical and mental rest.

Angina pectoris(angina pectoris). These are acute paroxysmal pains in the heart area. Highlight angina pectoris characterized by the occurrence of pain during physical activity, and angina at rest when the pain appears at night. The main distinguishing feature of pain during angina pectoris is its paroxysmal nature. Angina attacks are short-lived.

The occurrence of angina pectoris is mainly associated with atherosclerosis of the heart arteries and hypertension. An attack of angina pectoris can occur under various circumstances: after mental stress, anxiety, physical stress, heavy meals, drinking alcohol, smoking, bloating, going outside in cold weather, changing weather.

Symptoms of angina: a feeling of tightness in the chest, pain of varying intensity behind the sternum, in the left half of the chest, pressing, squeezing, stabbing in nature, spreading to the left shoulder, left arm, shoulder blade, sometimes a burning sensation in the left half of the chest, headache, dizziness, shortness of breath, feeling of lack of air, vomiting, fear of death, redness or paleness of the skin, coldness of the extremities, excessive urination after an attack.

Treatment. As an emergency treatment for angina pectoris, validol (sublingual tablet) or nitroglycerin tablets (sublingual) are used. A good effect is obtained by subcutaneous administration of a solution of papaverine hydrochloride with a solution of platyphylline or intramuscular injection of 1 ml of aminophylline solution, as well as intramuscular administration of an analgin solution. In the absence of results of medical care, narcotic drugs are used: subcutaneous solution of promedol or solution of omnopon.

Symptoms characteristic of angina pectoris are harbingers of acute myocardial infarction. To eliminate them, heating pads are placed at the patient’s feet and he is calmed down. The increase in frequency and intensification of angina attacks is considered a condition preceding myocardial infarction (pre-infarction condition).

Myocardial infarction. This is the necrosis of a section of the heart muscle, which develops as a result of a disruption in its blood supply. The immediate cause of myocardial infarction is a sharp decrease or complete closure of the lumen of the coronary arteries by an atherosclerotic plaque or thrombus. Vasospasm further impairs blood supply to the myocardium. Very often, the cause of myocardial infarction is atherosclerosis of the heart arteries.

Acute myocardial infarction can occur in three main clinical forms:

Painful;

Gastritis;

Asthmatic.

Each of these forms has different symptoms. Thus, in the painful form of acute myocardial infarction, pain occurs, often behind the sternum or to the left of it, usually spreading to the left shoulder, arm, shoulder blade, sometimes to the epigastric region, to both shoulder blades. A painful attack lasts tens of minutes, hours, and sometimes days; validol and nitroglycerin do not relieve it. Often a painful attack is accompanied by a fear of death. Sometimes there is a feeling of palpitations, heart failure, nausea (sometimes accompanied by vomiting), and shortness of breath.

In the gastritic form, symptoms of a painful form of myocardial infarction are observed, but the patient complains of pain in the upper abdomen, bloating, nausea and vomiting.

In the asthmatic form, pain in the heart area may be mildly expressed. The predominant complaints are shortness of breath, a feeling of lack of air, suffocation, cough with the release of foamy, pink sputum. The asthmatic form often develops with repeated myocardial infarctions and significant changes in the heart muscle.

Treatment. Emergency care in the acute period of a heart attack should be aimed at relieving the pain attack. If preliminary administration of nitroglycerin or validol does not relieve the pain, it is necessary to inject subcutaneously a solution of promedol or a solution of omnopon, a solution of morphine with a solution of atropine and cordiamine. You can use anesthesia with nitrous oxide mixed with oxygen.

Complications of acute myocardial infarction may include acute vascular failure (cardiogenic collapse) and acute left ventricular failure (cardiac asthma).

Acute vascular insufficiency (collapse, shock). In case of bleeding, trauma, infectious diseases, acute myocardial infarction, acute vascular insufficiency may occur. Its symptoms include general malaise, weakness, nausea, cold sticky sweat, fainting, pale skin, haggard face, sunken eyes, cyanosis of the lips, tip of the nose, and ears. Collapse occurs when the maximum pressure is below 80 mm Hg. Art., when the veins become collapsed, breathing becomes rapid.

Treatment. Emergency care for collapse includes providing rest to the patient, creating warmth, and giving him a hot drink; inject 2 ml of cordiamine subcutaneously. If the patient’s condition does not improve after a few minutes, 1 ml of a 1% mesatone solution is injected into a vein. If there is no or insufficient effect, 1–2 ml of a 0.2% solution of norepinephrine with 200 ml of a 5% glucose solution is administered intravenously at a rate of 16–20 drops per minute.

Simultaneously with the introduction of drugs that increase vascular tone, it is necessary to eliminate the cause that caused the collapse. If collapse is associated with pain, narcotic drugs should be used. If collapse occurs in a patient with food poisoning, you need to rinse the stomach and administer a saline laxative through a tube, then inject 10 ml of a 10% calcium chloride solution into a vein. In case of collapse caused by acute blood loss, it is necessary to take measures to stop the bleeding and transfuse blood or blood-substituting solutions.

Acute heart failure (cardiac asthma). This is a consequence of acutely developed weakness of the left ventricular muscle. The causes of the disease are hypertension, acute myocardial infarction (asthmatic form), combined mitral heart disease with predominant stenosis of the left atrioventricular orifice, cardiosclerosis, kidney disease, etc. Acute failure of the left ventricle of the heart often occurs in chronic heart failure after any exercise and manifests itself cardiac asthma. Often cardiac asthma develops at night and can progress to pulmonary edema.

Symptoms: feeling of lack of air, suffocation, sometimes accompanied by coughing; fear of death; the skin is covered with drops of sweat, the skin is bluish, the chest is expanded, the intercostal spaces are retracted, swollen veins are visible on the neck; tachycardia, pulse rhythm disturbances. With this disease, the formation of foamy, pink sputum and bubbling wheezing, audible at a distance, may be a consequence of the threat of pulmonary edema, which threatens the patient’s life.

Treatment. In case of emergency, 1 ml of a 1% solution of morphine or 1 ml of a 2% solution of omnopon is injected subcutaneously along with 0.5 ml of a 0.1% solution of atropine sulfate. For low blood pressure, instead of morphine and omnopon, 1 ml of a 2% solution of promedol and 1 ml of cordiamine or 1 ml of a 10% solution of caffeine sodium benzoate are injected subcutaneously. It is also necessary to improve the patient's breathing.

3. Diseases of the digestive system. Among the main causes of diseases of the digestive system are the following:

Poor nutrition, alcohol and nicotine intoxication, food poisoning, mental overload (cause changes in the gastric mucosa, impaired muscle tone, abnormal gastric motility with the subsequent development of gastritis, first with increased and then decreased secretory activity, and peptic ulcer);

A decrease in the acidity of gastric juice, as a result of which there is a decrease in its sterilizing activity. This leads to an increased likelihood of infection from the stomach entering the duodenum and biliary tract with the subsequent development of cholecystitis;

Violation of the outflow of bile from the gallbladder and bile ducts, the inflammatory process in them, a violation of fat metabolism. This leads to the formation of stones in the gall bladder and bile ducts and contributes to the development of cholelithiasis and calculous cholecystitis. In this case, inflammation of the pancreas is often observed - chronic pancreatitis;

Infectious and inflammatory lesions of the intestines: acute and chronic enteritis, colitis and enterocolitis, leading to impaired digestion and absorption of nutrients. Separately, it is necessary to mention infectious diseases that are accompanied by enteritis and colitis (dysentery, cholera, etc.);

Impaired functions of the pancreas or liver, leading to digestive disorders. Let's take a closer look at the most common diseases of the digestive system.

Acute gastritis. This is an inflammatory disease accompanied by damage to the mucous membrane or even deeper layers of the stomach wall. In this case, gastric dysfunction and intoxication phenomena are observed.

The cause of acute gastritis can be poor nutrition (overeating, poor quality, rough, hot or too cold, fatty or spicy food), alcohol abuse, smoking. Bad habits increase the likelihood of acute gastritis.

Symptoms of acute gastritis: loss of appetite and unpleasant taste in the mouth; belching of eaten food, “rotten egg”; nausea, sometimes vomiting of eaten food; drooling, a feeling of fullness and heaviness in the epigastric region, pain (sometimes cramping in nature) in the epigastric region, thirst, general malaise, weakness; in severe cases, chills, pale skin; grayish-yellow coating on the tongue; bad breath; elevated body temperature.

Treatment. Treatment of acute gastritis begins with gastric lavage. The patient is given 30 g of magnesium sulfate dissolved in 100 ml of water. In case of profuse vomiting and associated dehydration, subcutaneous or intravenous drip administration of 1–1.5 liters of isotonic sodium chloride solution or 5% glucose solution is recommended. To reduce pain, apply a warm heating pad to the abdomen. The patient is prescribed a special diet that excludes fatty, fried, rough, cold and spicy foods; On the first day, it is recommended to avoid eating altogether if possible.

Chronic gastritis. This is a widespread disease that occurs with phases of exacerbation and remission and is accompanied by disruption of the secretory, motor and other functions of the stomach. Depending on the functional state of the stomach, chronic gastritis is distinguished: a) occurring without disruption of secretory function (normacid); b) occurring with a slight decrease in secretory activity (hypacid); c) with significant inhibition of secretion (anacidic); d) with an increase in secretory activity (hyperacid).

Chronic gastritis is a consequence of irregular nutrition, dry eating, poor chewing of food, consumption of rough and spicy foods, overeating, abuse of alcoholic beverages, and insufficient protein and vitamins in food. In addition, chronic gastritis can be a consequence of acute gastritis.

The occurrence of chronic gastritis is promoted by defects of the masticatory apparatus, foci of infection in the oral cavity and nasopharynx (stomatitis, gingivitis, tonsillitis), diseases of the cardiovascular system with symptoms of heart failure, diseases of the liver and biliary tract (chronic cholecystitis), kidney diseases with symptoms of renal failure.

Symptoms of chronic gastritis: loss of appetite, dull pain in the epigastric region, intensifying after eating; belching of eaten food, sometimes “rotten egg” (especially with gastritis with low acidity of gastric juice); heartburn; tendency to diarrhea with anacid gastritis; weakness, general malaise, weight loss, pale skin, coating on the tongue, soft but slightly swollen abdomen, tension and soreness in the epigastric region.

Treatment: following a special diet that excludes spicy, coarse, fatty, cold and hot foods and alcoholic drinks. Eating should be regular: 3-4 times a day in small portions. In addition, patients need to take a complex of vitamins.

Peptic ulcer disease. This is a chronic disease characterized by phases of exacerbation and remission. Peptic ulcer disease is caused by frequent nervous overstrain, dysfunction of the pituitary gland and adrenal glands. The development of ulcers depends on a previous increase in acidity and peptic activity of gastric juice.

Factors predisposing to the development of peptic ulcers include smoking, alcohol abuse, poor diet, and consumption of rough and spicy foods. Exacerbation of peptic ulcer disease occurs in the cold and damp season.

Symptoms of a peptic ulcer: dull, gnawing, burning pain in the epigastric region, occurring 1–1.5 hours after eating; heartburn after eating, nausea, and sometimes vomiting of eaten food, leading to a decrease in pain, belching of eaten food and “rotten egg”, especially pronounced in patients with low acidity of gastric juice; general malaise, weakness, increased irritability, pale skin and weight loss, gray-brown coating on the tongue, tense abdominal wall.

Treatment. When treating a peptic ulcer, the patient must remain in bed. It is necessary to create physical and mental peace for him. The patient is prescribed a diet that excludes spicy, salty and extractive foods. You need to eat food at strictly established hours in fractional portions (5-6 times a day). It is important that the patient receives a large amount of vitamins.

Almagel is used to treat peptic ulcers; for severe pain, painkillers are used.

Hypoglycemic coma. Most often, this condition of the body is caused by a violation of the diet, increased physical activity or an overdose of insulin. Hypoglycemic coma can occur suddenly, without previous symptoms, 2–2.5 hours after eating.

Symptoms of hypoglycemic coma are profuse sweating, cold extremities, hunger, abdominal discomfort, nausea, headache; then convulsions appear and the patient loses consciousness.

Treatment. With the symptoms described above, it is necessary to provide the patient with emergency care. To do this, they give him a glass of sweet tea with a piece of white bread or eat 2-3 pieces of sugar at the first symptoms of an attack. After this, 20–40 ml of a 40% glucose solution and 0.5 ml of a 0.01% adrenaline solution should be administered intravenously.

4. Diseases of the urinary system. This type of disease is characterized by dysfunction of the urinary system due to various injuries. There are several types of such damage:

Inflammation of the renal pelvis (pyelitis), most often caused by E. coli, can subsequently lead to inflammation of the bladder (cystitis). Pyelitis may be a cause of renal failure. An ascending route of infection is possible: from the bladder to the kidneys;

Inflammatory changes in the bladder and kidneys are facilitated by difficulty in excreting urine, which occurs due to the appearance of stones in the bladder and kidneys. Stones and sand formed in the kidneys and bladder injure tissue, which also contributes to the development of inflammation;

Foci of infection in the nasopharynx (chronic tonsillitis, inflammation of the paranasal sinuses) lead to sensitization of the body and infectious-allergic damage to the glomeruli of the kidneys - nephritis, one of the main symptoms of which is increased blood pressure;

Chronic infectious (tuberculosis) and suppurative (bronchiectasis, osteomyelitis) diseases cause damage to the renal tubular apparatus - nephrosis;

Impaired blood supply to the kidneys due to congenital pathologies or acquired during various diseases (for example, hypertension) changes in the blood vessels of the kidneys;

Various kidney diseases, especially chronic nephritis, lead to impaired kidney function. In this case, the process of removing harmful substances from the body is disrupted, poisoning of the body may occur, and uremia may develop;

Severe injuries and burns can lead to major changes in the kidneys and the development of acute renal failure.

Let's look at the main diseases of the urinary system.

Cystitis. This is an inflammation of the mucous membrane of the bladder that occurs when an infection enters the ureters from the kidneys. The following factors contribute to its appearance and development: prostatic hypertrophy, pregnancy, consumption of spicy foods, hypothermia. The source of the disease is Escherichia coli.

Cystitis is distinguished between acute and chronic, periodically exacerbating. Symptoms of acute and chronic cystitis when complicated are the same: frequent, painful urination (dysuria); burning sensation at the end of urination; dull pain in the lower abdomen.

Treatment. When treating acute cystitis, the patient must remain in bed. Spices and hot seasonings, sauces, canned food are excluded from his diet, and the consumption of alcoholic beverages is prohibited. The patient is advised to drink plenty of fluids; it is recommended to take 1 tbsp of bear's ear herb infusion. l. 3-4 times a day, taking antibacterial drugs.

Pyelitis. This is an inflammatory disease of the renal pelvis associated with the penetration of E. coli into it. E. coli can enter the pelvis from an inflamed bladder. Factors predisposing to pyelitis include: diabetes mellitus, pregnancy, bladder stones, difficulty in the outflow of urine due to prostate adenoma, acute (influenza) and chronic (tuberculosis) inflammatory diseases.

There are acute and chronic pyelitis with exacerbations and remissions. Exacerbations of chronic pyelitis can be the result of eating spicy food, alcoholic beverages, hypothermia, or physical overexertion.

Symptoms: chills; dull pain in the lower back; frequent, painful urination; nausea, sometimes vomiting; shortness of breath, palpitations; general malaise, weakness, headache, dark urine.

Often inflammation of the renal pelvis is accompanied by inflammation of the kidney tissue, and pyelonephritis occurs (see 1.5). This increases blood pressure and worsens kidney failure.

Treatment. When treating acute pyelitis, strict bed rest must be observed. The patient is prescribed a fruit and vegetable diet with the exception of spicy foods; drinking plenty of fluids. Herbal infusions and antibacterial drugs are also used.

Kidney stone disease. This is a chronic disease characterized by metabolic disorders in the body, changes in the kidneys and urinary tract with the formation of urinary stones in them. Stones form in the pelvis of one or two kidneys; they can be single or multiple.

The size of the stones ranges from the size of a grain of sand to a child's head. The chemical composition of stones is different. Their occurrence may be due to the characteristics of drinking water and food, lack of vitamins, the constitution of the patient, etc. Stones form more quickly with inflammation of the renal pelvis (pyelitis), impaired outflow of urine, pregnancy, and a sedentary, sedentary lifestyle.

When passing stones, renal colic, caused by spicy food, alcoholic drinks, bumpy driving, physical and mental stress.

Symptoms: unbearable pain in the right or left half of the lower back, spreading to the genitals, thigh on the corresponding side; frequent, sometimes painful urination, in severe cases – urinary retention; nausea, sometimes vomiting; dry tongue; the stomach is swollen; tachycardia.

Treatment. With renal colic, the patient needs emergency therapeutic care. To do this, the patient is given a hot bath or heating pads are placed on the lower back, and 1–2 ml of promedol solution and 1–2 ml of atropine solution are injected subcutaneously. In the future, he is prescribed a special diet with the exception of spicy and salty foods, alcoholic beverages, and chocolate.

Acute diffuse glomerulonephritis. This is an acute inflammatory disease of the renal glomeruli, which is infectious and allergic in nature. The most common cause of the disease is streptococcal infection, localized in the nasopharynx. In addition, the disease can be triggered by vaccination, allergies to pollen, medications, and hypothermia.

The first symptoms of nephritis occur 10–20 days after an acute infection or exacerbation of a chronic infection, causing a general decrease in the body’s reactivity. Symptoms: headache; dull pain in the lower back; nausea; vomit; dyspnea; swelling on the face; increased blood pressure, tachycardia; the urine is cloudy, reddish, reminiscent of meat slop. Patients may develop acute left ventricular failure and acute encephalopathy or eclampsia, expressed by arterial hypertension.

Treatment. Emergency care for eclampsia begins with bloodletting. A glucose solution and a magnesium sulfate solution are administered intravenously, and a magnesium sulfate solution is administered intramuscularly.

Treatment of patients with acute diffuse glomerulonephritis is based on bed rest and a diet that limits the intake of salt, liquid, and protein. Among the medications, reserpine, hypothiazide are prescribed, in the presence of foci of infection - antibiotics and large doses of vitamin C and B vitamins.

Chronic glomerulonephritis. The course of chronic glomerulonephritis is divided into several forms: latent, edematous-proteinuric, hypertensive and edematous-hypertensive.

In the latent form, the disease is asymptomatic for a long time. In the edematous-proteinuric form, headaches, puffiness and swelling on the face, dull pain in the lumbar region, poor appetite, nausea, weakness and general malaise are observed.

In the hypertensive form of chronic glomerulonephritis, constant severe headache, nausea, blurred vision, high blood pressure, tachycardia, and intense pulse appear. Over time, anemia and kidney failure worsen.

In the edematous-hypertensive form, symptoms of edematous-proteinuric and hypertensive forms of chronic diffuse glomerulonephritis simultaneously occur. Signs of the disease are edema, hypertension, and cardiac dysfunction. This form of chronic glomerulonephritis is severe and leads to renal failure, azotemia and uremia.

Treatment: bed rest, limiting salt intake, eating dairy products. Medications include prednisolone, antibiotics or other antibacterial drugs. For high blood pressure, reserpine is prescribed.

Nephrosis. This disease occurs when the renal tubules are damaged, which entails a disruption of water-salt, protein and fat metabolism in the body. The development of nephrosis is promoted by tuberculosis, chronic suppurative diseases, and intoxication.

Symptoms of nephrosis include swelling of the face, limbs, lower back, weight loss, weakness, general malaise, pale skin, and increased blood pressure.

Treatment carried out in a hospital. It is determined by the disease that led to the development of nephrosis. The patient is prescribed bed rest, a special diet (cottage cheese, meat, fish), and vitamins.

Uremic (azotemic) coma. As a result of poisoning of the body with products of protein metabolism due to insufficient excretion by diseased kidneys, uremic coma occurs. It develops in the final stage of chronic renal failure in patients with chronic diffuse glomerulonephritis, pyelonephritis, etc. Characteristic of such patients is a gradual deterioration of their condition due to increasing renal failure.

Symptoms: general weakness, fatigue, drowsiness and apathy, dull headaches, a constant feeling of heaviness in the head, blurred vision, depression of consciousness.

Treatment carried out under bed rest. The patient is prescribed a diet with the complete exclusion of proteins. Gastric and kidney lavages are performed daily. Aminazine solution and diprazine solution are administered intramuscularly. For edema, hypothiazide is prescribed. In the absence of anemia, bloodletting is recommended. A solution of strophanthin is administered intravenously along with glucose.

To combat severe renal failure, extracorporeal hemodialysis is used using an artificial kidney machine.

Almost all developed countries in recent years have been characterized by an increase in mortality from cardiovascular diseases, as well as our country.

Over the past 20 years, mortality from cardiovascular diseases has more than doubled. In more than half of those who died, the cause of death was coronary heart disease.

REASONS CONTRIBUTING TO INCREASED MORTALITY AND MORTALITY FROM CARDIOVASCULAR DISEASES.

· Concentration of population in cities (urbanization)

· change in the rhythm of life and increase in emotional tension

· change in the nature of work and nutrition

severe limitation of physical activity

20 years ago, cardiovascular diseases ranked approximately 6-8 in the structure of causes of general morbidity. Now they have reached 2nd place and account for about 20% of cases seeking medical help. The leading nosological forms are hypertension, ischemic heart disease, and cerebrovascular diseases. It should be noted that these diseases are trending towards younger people, but the number of patients is still increasing to a greater extent among people aged 40-50 years. Depending on gender:

The incidence rate of cardiovascular diseases is higher in women than in men, with the exception of myocardial infarction. Myocardial infarction is more common in men. The incidence increases with age, with the exception of rheumatism.

Cardiovascular diseases occupy the first place among the causes of disability in our country. About 4% of patients receive 1st disability group, about 60% receive 2nd disability group. Among the causes of disability, ischemic heart disease, hypertension and vascular lesions of the brain predominate.

The greatest impact on the reduction in life expectancy is caused by mortality from diseases of the circulatory system.

RISK FACTORS FOR CARDIOVASCULAR DISEASES.

· External (social and everyday) factors

· Internal factors

External factors:

· excessive emotional stress

excess nutrition

· consumption of unhealthy amounts of table salt

· smoking

alcohol consumption

physical inactivity

Internal factors:

hereditary predisposition

diabetes mellitus

· hypercholesterolemia

· hyperlipidemia

Some cardiovascular diseases due to risk factors can contribute to the occurrence of other cardiovascular diseases (for example, hypertension is a risk factor for coronary artery disease).

MALIGNANT NEOPLOGMS AND THEIR SOCIO-MEDICAL SIGNIFICANCE.

Malignant neoplasms occupy second place in the structure of causes of overall mortality (since the 40-50s of the 20th century). They account for approximately 17% of all causes of death. Over the past 10 years, the number of deaths has increased by 30%.

The increase in mortality from malignant neoplasms occurs both due to improved diagnosis of diseases and due to an increase in life expectancy. Although the increase in mortality and morbidity is not only due to people in older age groups, it is observed in all age groups, including young people.

Mortality rates vary significantly by age group for men and women. At the age of 25-34 years, mortality is higher in men, from 35 years in women. From 55 to 64 years of age it significantly prevails in men. In general, the mortality rate among men exceeds that among women. Along with the increase in mortality from malignant neoplasms, the incidence of these diseases is growing.

Men are more likely to suffer from malignant neoplasms than women.

Morbidity structure in men:

· lung cancer - 29% of all cases

stomach cancer 16%

· skin cancer 8%

hemoblastosis 5%

Morbidity structure in women:

· breast cancer 17%

stomach cancer 12%

· skin cancer 12%

· colon cancer 6%

In general, the incidence of malignant neoplasms increases with age, but it does not increase evenly. There are two peaks of incidence: at the age of 0 to 4 years and at the age of 70-74 years.

Principles of prevention of malignant neoplasms:

· early detection and treatment of precancerous diseases

· detection of carcinogenic substances, their detailed description and development of effective measures to prevent human contact with these substances.

· Detection of diseases in the early stages, which leads to effective treatment and prevention of metastases and relapses

· mandatory long-term observation of patients after treatment for the purpose of prevention or early treatment of relapses and metastases

· identification of risk factors, study of lifestyle

ACCIDENTS, POISONING AND INJURIES (UNNATURAL CAUSES).

Unnatural causes occupy third place in the structure of overall mortality among the population of major developed countries. This trend is a reflection of the increasing intensity of life in these countries. Economically developed countries are characterized by stabilization of mortality rates from accidents, poisonings and injuries, or even a slight decrease in them.

In the structure of general morbidity, traumatism ranks 4-5.

Negative changes in the mortality rate from unnatural causes are associated with the socio-economic, political and resulting psychological climate in our country.

MENTAL ILLNESSES

The problem of studying the prevalence of mental illness among the population in all countries is very complex. The indicators given by different authors for different countries differ in many respects. To clarify more accurate data, the following methodological technique was proposed - dividing all patients into 3 groups:

1. Persons suffering from minor mental disorders. They make up

15-20% of the total population. These are, first of all, patients with neuroses.

2. Persons in need of systematic psychiatric care - 3-6%

3. The most severe mental patients - 0. 3 -0. 6%.

The most common mental disorders include neuroses and other borderline conditions. The prevalence of neuroses among the population of developed countries reaches approximately 30%. Every year the number of neuroses in all countries increases by 10%. When analyzing the prevalence of mental disorders, these diseases are divided into 2 groups:

· Diseases, the occurrence of which depends little on the external environment - endogenous psychoses. These are schizophrenia, manic-depressive syndrome, and certain types of oligophrenia. The prevalence of these diseases in different countries is approximately the same.

· Diseases, the occurrence of which depends on the influence of external factors (not completely). The prevalence of these diseases varies among individual countries and regions. This includes disorders such as alcoholism, drug addiction, intoxication psychoses, consequences of traumatic brain injury, etc.

Among the diseases that make up the second group, chronic alcoholism turned out to be the most common. The number of patients with alcoholic psychoses is increasing especially sharply.

There is a high increase in the primary incidence of drug addiction. The number of people with disabilities due to mental illness continues to grow. More than half of people who have received disability due to mental illness are people of working age. The number of patients receiving 1st and 2nd group disability is increasing.



Since I am a doctor by training, I couldn’t miss an article about dangerous diseases that you can encounter while traveling around different countries of the world. Read and keep in mind.

From warm exotic countries you can bring diseases that are unfamiliar to domestic doctors. It’s even more unpleasant to get sick while on vacation. What diseases can you catch while traveling and how to protect yourself?

Cholera

Cholera is a very dangerous acute infectious disease characterized by severe dehydration of the body, which, if not treated in a timely manner, can lead to death.

Cases of cholera are registered annually in the countries of Asia and Southeast Asia: in India, Iran, China, Malaysia, Vietnam, Singapore and the Philippines, and imported cases of cholera are registered in Europe, the USA, Australia and Oceania.

In Africa, cholera patients are registered annually in Benin, Burundi, Ghana, the Democratic Republic of the Congo, Cameroon, Liberia, Malawi, Mozambique, Niger, Nigeria, Tanzania, Togo, and Uganda.

Incubation period(latent or latent period of the disease) is the period of time from the moment the microbial agent enters the body until the symptoms of the disease appear. That is, the person is already infected, but the disease has not yet manifested itself. The duration of the incubation period can vary from several hours and even minutes to tens of years.

As a rule, during the incubation period, a sick person is not contagious to others, but with some diseases, the release of microbes through saliva, coughing and sneezing begins 1-3 days before the onset of the disease. Often, during the incubation period, it is already possible to detect the pathogen itself or antibodies to it in the body and begin treatment.

Path of infection. Cholera pathogens enter the human body through consumption of contaminated food and water, and the most dangerous are foods that are not heat-treated. Infection can also occur while swimming in water bodies.

Characteristic signs- repeated loose stools and vomiting, which leads to dehydration.

What to do? When the first signs of the disease appear, you should immediately consult a doctor.

Yellow fever

Yellow fever is common in 32 countries in Africa and 12 countries in South America (Angola, Benin, Burkina Faso, Burundi, Gabon, Gambia, Ghana, Guinea, Guinea-Bissau, Democratic Republic of the Congo, Cameroon, Kenya, Congo, Cote d' Ivoire, Liberia, Mauritania, Mali, Niger, Nigeria, Rwanda, Sao Tome and Principe, Senegal, Somalia, Sudan, Sierra Leone, Tanzania, Togo, Uganda, Central African Republic, Chad, Equatorial Guinea and Ethiopia, Bolivia, Brazil, Venezuela, Guyana, French Guiana, Colombia, Panama, Peru, Saint Vincent and the Grenadines, Suriname, Trinidad and Tobago, Ecuador).

Path of infection. Yellow fever is transmitted by mosquitoes of the “Egyptian” genus; you can become infected both in natural conditions and in cities.

Incubation period of the disease- from 3 to 6 days.

Characteristic signs. The disease is characterized by high fever, hemorrhagic rash, kidney and liver damage with the development of jaundice and acute renal failure. The course of the disease is extremely severe and in most cases is fatal.

What to do? Protect yourself from the disease in advance. Thus, when traveling to the countries of the South American and African continents, where mandatory preventive vaccinations are required, which are the only measure to prevent this dangerous disease, you must receive a single vaccination, which is carried out no later than 10 days before departure, immunity remains for 10 years, after which re-vaccination is carried out. Without an international certificate of vaccination against yellow fever, travel to disadvantaged countries is prohibited.

Ebola, Marburg and Lassa

These fevers are classified as severe viral diseases with almost the same clinical picture. In particular, fevers are manifested by high fever, hemorrhagic rash, bleeding from the nose, gums, blood in the stool and vomit, headaches, general weakness, pain in the chest and stomach.

Ebola fever has been reported in Uganda, Gabon and the Republic of Congo, South Sudan, and the Democratic Republic of Congo.

Path of infection: through direct contact with blood, secretions, other fluids and organs of an infected person.

Incubation period- from 2 to 21 days.

What to do? Specific prevention against this disease has not been developed.

Marburg hemorrhagic fever registered in the Democratic Republic of the Congo, Angola, Uganda.

Path of infection

Incubation period- from 3 to 17 days.

What to do? Protect your place of residence from rats.

Lassa fever registered in Sierra Leone, Nigeria, Liberia.

Path of infection: animals, rodents, sick person.

Incubation period- from 3 to 17 days.

What to do? Use barrier methods to protect household items and products from contamination by rodent urine or dust containing rodent excrement.

Malaria

Path of infection: for bites of malaria mosquitoes.

Incubation period. From 7 days to 1 month for tropical malaria and up to 3 years for other forms.

Characteristic signs. Symptoms of the disease are fever, chills, heavy sweating, headache, weakness.

What to do? For the purpose of prevention, it is necessary to regularly take antimalarial drugs. Taking medications should begin 1 week before leaving abroad, continue throughout the entire period of stay and 1 month after returning.

At the first symptoms and the slightest suspicion of the disease, it is important to seek medical help as quickly as possible, since with tropical malaria, without timely treatment, death is possible in a very short time from the onset of the disease.

Pneumonic plague

Plague is widespread in the Democratic Republic of the Congo, India, Madagascar, Mozambique, Uganda and Tanzania, as well as in Central Asia, such as Kazakhstan, Turkmenistan, Uzbekistan and Mongolia. In China, there are outbreaks of plague in 19 provinces. On the American continent, permanent natural foci of plague exist in Brazil, Bolivia, Peru, Ecuador and the United States of America.

Path of infection. Infection with plague occurs through bites by infected fleas, contact with sick animals and rodents, as well as through airborne droplets when communicating with a patient with pneumonic plague.

Incubation period. The time that passes from the moment the plague pathogen enters the human body until the first symptoms of the disease appear ranges from several hours to 6 days.

Characteristic signs. The disease begins with high fever, severe chills, headache, swollen lymph nodes and coughing up blood.

What to do? If these signs of the disease appear, you should immediately consult a doctor.

Bird flu

Avian influenza is an acute infectious disease caused by a virus.

Path of infection. Human infection occurs through close contact with infected live or dead poultry and wild birds. Sometimes it is possible for humans to become infected by eating meat and eggs of sick birds without sufficient heat treatment. Also dangerous are the secretions of infected birds, which, when they fall on plants, into the air, into water, can then infect humans through water when drinking and bathing, as well as through airborne droplets, airborne dust and through dirty hands.

Incubation period- from several hours to 5 days.

Characteristic signs. The disease with avian influenza begins acutely, with unexpected chills, fever up to 38°C and above, muscle pain, headaches, and sore throat. Possible watery, loose stools and repeated vomiting. The patient's condition usually deteriorates quickly. After 2–3 days, a wet cough appears, often mixed with blood, and shortness of breath. Difficulty breathing may occur, and damage to the liver, kidneys and brain may also occur.

What to do? When the first signs of the disease appear, you must immediately consult a doctor to establish a diagnosis and prescribe adequate and timely treatment. Late initiation of treatment inevitably leads to the development of complications.

Prevention measures. It is necessary to avoid contact with poultry and wild birds in households, markets and places where birds gather in large numbers on open water bodies.

Intimate infections

During casual sexual intercourse, everyone runs the risk of contracting dangerous infections, including AIDS, syphilis, and viral hepatitis B.

To prevent these diseases, always carry and use personal protective equipment and avoid questionable sexual contacts.

HIV infection

HIV is a chronic, slow viral infection.

Incubation period. The latent period of HIV infection ranges from several months to several years.

Path of infection. The infection is mainly transmitted sexually, through the use of blood-contaminated medical instruments and syringes when injecting drugs, through donor organs and tissues from patients with HIV infection. Remembering the possibility of contracting this infection is extremely important if you plan to travel to countries where a system for monitoring donor blood has not yet been established and there is a danger of using non-sterile medical equipment when providing medical care, especially in dentistry.

Having become infected with HIV, a person becomes a virus carrier and, while remaining practically healthy for a long time, can infect his sexual partners.

The final stage of HIV infection is AIDS - acquired human immunodeficiency syndrome, in which there is a progressive destruction of the human immune system, which cannot be treated and ends in death within a year.

What to do? To prevent HIV infection, you must independently take care of a supply of disposable syringes and condoms, and before going on vacation, visit the dentist.

Hereditary degenerative diseases are clinically completely heterogeneous, but are characterized by a similar course. In a healthy person (child or adult), pathological symptoms of damage not only to the central nervous system, but also to other organs and systems appear spontaneously or after provoking factors. Gradually, the clinical severity of these symptoms intensifies, and the patient’s condition steadily worsens. The rate of disease progression is variable. Hereditary degenerative diseases lead to the loss of certain functions (movement, speech, thought processes, vision, hearing, etc.) and sometimes result in death. The cause of hereditary degenerative diseases is a pathological gene (or several genes). Therefore, the age of onset of the disease depends on the time of expression of this gene, and the degree of severity depends on its penetrance: the more pronounced the pathological sign, the more severe the course of the disease.

Outstanding neurologists of the 19th-20th centuries. described hereditary degenerative diseases, but the causes of their occurrence remained unknown for a long time. A new era in neurology began thanks to the achievements of molecular genetics: the genes and biochemical defects responsible for the development of the symptoms of these diseases were discovered. According to established tradition, they bear eponymous names, and this is a tribute to the scientists who were the first to describe these diseases.

Topically, hereditary degenerative diseases are divided depending on the level of damage to the nervous system into diseases with predominant damage to: 1) the cerebral cortex; 2) basal ganglia; 3) brainstem and cerebellum; 4) spinal cord.

5.1. Hereditary degenerative diseases of the basal ganglia

Huntington's disease - a hereditary slowly progressive disease of the nervous system with an autosomal dominant type of inheritance, characterized by choreic hyperkinesis, mental disorders and progressive dementia. The frequency of occurrence in the population varies and averages 3-7 per

100 000.

Historical information. J. Huntington was a hereditary physician. Under the supervision of his grandfather there were several patients with a hereditary form of chorea. Eight-year-old George first saw and sketched their movements. In 1872, Huntington first characterized this disease, which was later named after him.

Molecular genetics and pathogenesis. The Huntington's disease gene is mapped to chromosome 4p16.3. It encodes the huntingtin protein. The cause of Huntington's disease is an increase in the number of trinucleotide cytosine-adenine-guanine (CAG) repeats located in the first exon of the gene. The genes of healthy people contain from 10 to 35 repeats. With Huntington's chorea, an increase in their number is observed (from 36 to 121). Once the number of trinucleotide repeats exceeds 36, accumulation of the repeat zone is observed in subsequent generations, which correlates with an increase in the severity of the disease. This phenomenon is called anticipation, and Huntington's disease is its best example: the earlier the disease appears in a number of generations, the more severe it is.

The CAG triplet encodes the amino acid glutamine, so an extended polyglutamine region is formed in the protein, which leads to apoptosis. Huntington's disease also affects mitochondrial function in striatal neurons. These changes are likely due to the accumulation of free peroxide radicals.

Pathomorphology.At autopsy of the brain in Huntington's disease, atrophy and gliosis of the caudate nuclei and putamen are found (Fig. 5.1). The number of neurons in the globus pallidus, in the cortex of the frontal lobes and subcortical parts of the hemispheres is reduced. No specific histological markers have been described. Lipofuscin accumulates in intact neurons and astrocytes, iron accumulates in the cells of the globus pallidus, and siderophages accumulate in the perivascular space. The neurons of the caudate nuclei responsible for the secretion of the inhibitory neurotransmitter, γ-aminobutyric acid, are mainly damaged.

Rice. 5.1.Atrophy of the brain, mainly of the caudate nucleus, in Huntington's disease (macroslide)

Large pyramidal cells of layers III, V and VI of the cerebral cortex shrink, acquiring an irregular shape. At the onset of the disease, the death of cortical cells is compensated by active branching of the dendrites of the remaining pyramidal cells.

Clinical manifestations. The disease begins at any age, most often between 20 and 60 years of age (on average at 40 years of age). The juvenile form accounts for about 10% of all cases of Huntington's chorea. The earliest onset of the disease is described at 3 years.

In the initial stage of the disease, involuntary movements in the form of chorea occur in the morning or during nervous tension. Choreic hyperkinesis in the facial muscles is manifested by expressive grimaces with protruding tongue, twitching of the cheeks, alternate raising and frowning of the eyebrows. Sometimes there are episodes of noisy, deep breathing. Chorea in the hands looks like rapid flexion and extension of the fingers, in the legs - like alternate crossing and spreading of the legs, flexion and extension of the toes. Along with chorea, athetosis can be noted in the muscles of the trunk and proximal limbs. Hyperkinesis is usually symmetrical, intensifies with physical activity or excitement and stops during sleep. As the disease progresses, they intensify, and severe dystonia appears, turning into rigidity.

Sometimes the disease begins with dystonia: patients cannot remain in one position for a long time; torsion of the neck, trunk and limbs is noted. In the juvenile form, in 50% of cases, the initial symptoms are bradykinesia, rigidity and parkinsonian tremor.

Seizures are rare in adults with Huntington's disease, but occur in 30-50% of cases in children. Various types of seizures are observed: focal, generalized tonic-clonic, absence seizures, dialeptic, myoclonic, usually resistant to anticonvulsants. EEG changes are characterized by generalized epileptic activity with a frequency of 2-2.5 Hz and irregular peak waves.

Speech dysfunctions progress in patients. In the initial stages of Huntington's chorea, disturbances associated with sound pronunciation (dysarthria) occur. The speed and rhythm of speech gradually changes, it becomes slow and slurred. Swallowing disorders usually appear in the terminal stage. A common cause of death is aspiration syndrome.

In 90% of children, increased tendon reflexes and spastic hypertonicity are detected. Axial reflexes (proboscis, sucking, distance-oral), as a rule, occur with severe intellectual impairment.

Oculomotor disorders occur in most patients. Patients cannot smoothly and accurately follow an object and blink frequently. Nystagmus is characteristic.

Often, Huntington's disease in childhood begins with behavioral changes: school performance and concentration decrease, thinking slows down, short-term memory is impaired, and restlessness appears.

Rarely in adolescence, the disease debuts with psychosis, schizotypal disorder. The initial stage is characterized by decreased mood (depression), anxiety, irritability, emotional lability, and apathy. Suicidal thoughts arise.

The course of the disease in children is characterized by rapid progression, which is associated with the phenomenon of anticipation.

Diagnostics.The diagnosis is confirmed by molecular genetic analysis. Using polymerase chain reaction, the number of CAG repeats in the affected gene is determined. In the adult form of the disease, the number of repeats exceeds 36, in the juvenile form - 50.

MRI of the brain shows atrophy of the heads of the caudate nuclei, and, to a lesser extent, of the globus pallidus, hypothalamus, and frontal cortex. Single photon emission computed tomography (SPECT) reveals low glucose metabolism in the caudate nucleus even at the preclinical stage.

Differential diagnosis carried out with other childhood diseases manifested by chorea: benign non-progressive familial chorea, idiopathic torsion dystonia, Hallerwarden-Spatz disease, Wilson-Konovalov disease, juvenile form of Parkinson's disease, neuroacanthocytosis.

Prenatal diagnosis is carried out using the molecular genetic method.

Treatment.Currently, no effective treatment has been developed; symptomatic therapy is carried out. To reduce the severity of chorea, antipsychotics are indicated. For rigidity, levodopa, bromocriptine, and amantadine are prescribed; if seizures occur, antiepileptic therapy is prescribed.

Hepatolenticular degeneration (Wilson's disease, Wilson-Konovalov disease) is an autosomal recessive disease that occurs when copper metabolism is impaired. It is characterized by a combination of damage to internal organs and the brain, mainly the liver and lenticular nuclei. The prevalence of the disease is 2-3 cases per 100,000 population. To help those suffering from Wilson-Konovalov disease, effective pathogenetic therapy has been developed, without which the disease quickly progresses and ends in death. Timely initiation of systematic treatment prevents the development of the disease or leads to partial regression of symptoms.

The first classic description of the disease with its typical morphological changes in the form of cirrhosis of the liver was published by the English neurologist S. Wilson in 1912. He named the main clinical symptoms as involuntary movements in the limbs and trunk, tremor, muscle rigidity, dysphagia and dysarthria, affective outbursts, and sometimes mental disorders . It should be noted that with this disease, despite the fact that it is called “hepatolenticular degeneration,” not only the liver and lenticular nuclei are affected. Outstanding Russian neurologist N.V. Konovalov significantly expanded the understanding of the pathophysiology, pathogenesis and clinical picture of the disease and created its classification.

The Wilson disease gene is located on the long arm of chromosome 13 (13q14.3). It encodes a copper-transporting ATPase involved in the synthesis of cerulloplasmin. The disease develops only in homozygotes. Heterozygotes (with one normal gene and one pathological) are characterized by a subclinical course.

The disease is based on a violation of copper metabolism. Copper ion is part of the enzymes of the respiratory chain (cytochrome oxidase and lysyl oxidase). Every day a person consumes from 1 to 5 mg of copper with food, of which about 40% is absorbed. Copper ions absorbed in the proximal gastrointestinal tract form a strong connection with metalloprotein, are transported into cells, participate in intracellular metabolism and are excreted. In Wilson-Konovalov disease, the removal of copper from the liver in the composition of cerulloplasmin is impaired. Copper accumulates in hepatocytes, hepatosis develops, and subsequently nodular cirrhosis of the liver. Direct toxic effects of copper cause hemolytic anemia.

Freely circulating copper is deposited in organs and tissues, primarily in the brain and cornea. Pathological changes are formed in the basal ganglia and the Kayser-Fleischer ring in the cornea. Chronic intoxication leads to damage to the central nervous system. Death occurs from hepatic coma.

Pathological anatomy. At autopsy, the liver is reduced in size due to atrophic cirrhosis; under a microscope, areas of normal tissue alternate with areas of necrosis and islands of regeneration. By electron microscopy, copper inclusions are located diffusely in the cytoplasm of hepatocytes. In the kidneys, degeneration of the tubular epithelium is detected; the cytoplasm also contains copper inclusions. The spleen is usually enlarged. The basal ganglia of the brain appear brownish-red; the lenticular kernels, especially the shell, are softened, contain small cysts and are wrinkled. The caudate body, globus pallidus, deep layers of the cortex, dentate nuclei of the cerebellum, and subthalamic nuclei are also affected. The number of neurons is reduced, their axons are destroyed. Characteristic is the appearance of Alzheimer's glia, which are formed from ordinary astrocytes: large, devoid of cytoplasm, “naked” nuclei and cells with a very large body, sometimes with a wrinkled nucleus. The later the disease begins, the slower it progresses, and the more diffuse the brain changes become.

Copper deposition in the cornea results in the formation of Kayser-Fleischer rings, which vary in color between yellow, green and brown. The clinical picture is characterized by polymorphism of neurological and somatic symptoms. In accordance with the classification of N.V. Konovalov distinguishes 5 forms of the disease.

Abdominal shape- severe liver disease leading to death before the onset of symptoms from the nervous system; Preschool children get sick.

Rigid-arrhythmic-hyperkinetic, or early, form characterized by a rapid course (2-3 years), also begins in childhood. The clinical picture of the disease is dominated by muscle rigidity leading to contractures, poverty and slowness of movements, choreoathetosis or dystonic hyperkinesis; the face is imitative, often distorted by a frozen grimace. Disorders of speech (dysarthria) and swallowing (dysphagia), convulsive laughter and crying are common, seizures are common, affective disorders and a moderate decrease in intelligence.

Trembling-rigid form occurs more often than others. Begins in adolescence, progresses somewhat more slowly (on average 5-6 years),

sometimes accompanied by remissions and sudden deterioration. Typical are rough rigidity and rhythmic tremor (2-8 tremors in 1 s), which sharply increases with static muscle tension, movements and excitement, disappears at rest and during sleep; involves the limbs, head and torso. Sometimes tremor is accompanied by athetosis and chorea, and dysphagia and dysarthria are also observed.

Trembling form begins at the age of 20-30 years, flows rather slowly (10 years or more); tremor predominates in the clinic, rigidity appears at the end of the disease. Hypotonia, amymia, slow, monotonous speech (bradylalia), bradykinesia, mental changes, and affective outbursts are common. Epileptic seizures are observed.

Extrapyramidal-cortical form occurs less frequently than other forms, lasts 6-8 years; begins as one of the forms described above. Typical extrapyramidal disorders are further complicated by acutely developing paresis, convulsions and dementia, which are associated with the formation of extensive lesions in the cerebral cortex.

Diagnostics

1. Corneal Kayser-Fleischer ring during ophthalmological examination with a slit lamp.

2. Study of the concentration of cerulloplasmin in the blood (lower limit of normal - 20 mg/dl).

3. Increased copper excretion in daily urine (more than 80 mcg/day).

4. Liver biopsy - increase in copper content in dry matter.

5. CT and MRI reveal atrophy of the cerebrum and cerebellum, basal ganglia, dilatation of the ventricles and subarachnoid spaces.

6. Genetic analysis finally confirms the diagnosis. Differential diagnosis carried out with other hereditary

degenerative diseases occurring with hyperkinesis.

Treatment.D-penicillamine (cuprimine, Depen) forms a strong compound with copper that is excreted by the kidneys. The drug is prescribed in a dose of 1-1.5 g/day. In the first 3-6 months, a transient deterioration occurs. Then the patients’ condition begins to improve: neurological symptoms decrease significantly and everyday skills improve. Liver function is restored. After achieving a stable therapeutic effect, the dose of the drug can be

reduce slightly. Treatment is carried out throughout life. Sometimes side effects develop. A less toxic copper binder is trientine (triene).

Diet does not play a big role in the treatment of hepatolenticular degeneration, however, it is usually recommended (exclusion from the diet of foods rich in copper: cocoa, chocolate, mushrooms, nuts).

Torsion dystonia (G 24.1) and dystonic syndromes

Dystonia is one of those neurological conditions that are difficult to diagnose and treat even for a modern neurologist. S. Marsden, the creator of the modern classification of dystonias, noted that until the 1970s. many patients with dystonia were observed and treated by psychiatrists due to the persistent opinion that “such curious movements can only occur in a person with an unhealthy psyche.” The prevalence of dystonia has not yet been precisely established; Meanwhile, they take second place after tics among movement disorders in children.

Dystonia was first described by V. Schwalbe in 1908 under the name “a special tonic form of spasm with symptoms of hysteria.” G. Oppenheim identified it as an independent nosological form - “dystonia musculorum deformans” in 1911, noting a progressive course in the absence of muscle atrophy, paresis, ataxia and sensory disorders.

Dystonia- a clinical syndrome characterized by irregular, slow violent movements in various parts of the body, peculiar changes in muscle tone and pathological postures. With dystonia, involuntary muscle contraction causes repeated twisting movements. With prolonged muscle contraction, tremors may occur.

Dystonia appears to be associated with a disturbance in the smooth transition of posture to movement and vice versa. An additional characteristic of dystonia is extreme sensitivity to external stimuli of various modalities, especially tactile ones. Gestures and touches increase or decrease dystonia, which patients often use (“corrective gestures”). For example, touching the tense muscles of torticollis causes dystonic postures in other parts of the body, and placing a finger on the chin reduces torticollis.

Dystonia action often occurs during specific movements. For example, writer's cramp - dystonia of the muscles of the hand and fingers - occurs

exclusively when writing and never when sewing or other activities. Dystonia of the arm when walking forward completely disappears when walking backwards; hemidystonia when walking disappears when running.

Postural dystonia (resting dystonia) is expressed by the formation of long-term pathological postures that disappear during sleep.

Dystonia is classified according to the age of onset, etiology and prevalence of hyperkinesis. By prevalence

Focal dystonia - affecting one part of the body. May be cervical dystonia, characterized by pathological position of the head (torticollis) and spasm of the neck muscles. Cranial Dystonia in the orbicularis oculi muscle looks like rare forced blinking. Oromandibular dystonia is manifested by dystonia of the masticatory muscles (trismus). Writer's cramp occurs in the distal parts of the dominant hand, not only when writing (Fig. 5.2), but also during other actions, for example, playing the piano, guitar, typing on the keyboard, etc.

Segmental dystonia - with damage to two adjacent parts of the body.

Multifocal dystonia - affecting several non-contiguous parts of the body.

Hemidystonia - affecting half of the body.

Generalized dystonia (Fig. 5.3).

Highlight 4 degrees of severity dystonia (E. Fernande-Alvarez,

J. Aicardi, 2001):

1st degree - dystonia occurs only with specific movements;

2nd degree - constant dystonia, sometimes relaxation is possible;

3rd degree - constant dystonic posture that cannot be corrected;

4th degree - generalized permanent dystonia.

By etiology Dystonia is divided into primary (idiopathic) and secondary (symptomatic).

Rice. 5.2.Torsion dystonia of the hand (writer's cramp)

Rice. 5.3.Torsion dystonia, generalized form

Primary dystonia (G 24.1, synonyms: generalized dystonia, torsion dystonia). It occurs with a frequency of 3-4 per 100,000 population and includes 13 genetic forms. The most common primary dystonia - DYT1 - is found in 90% of cases of this disease in children in the Jewish-Kenazi population and in 40-60% in the general population of the world.

With primary dystonia, there are no morphological changes in the brain. The biochemical defect is localized in the basal ganglia and is associated with pathology of neurotransmitters. The use of PET (positron emission tomography) and fMRI (functional MRI) has revealed that dystonia disrupts the functional activity of many parts: the motor cortex, the cerebellum, the basal ganglia (mainly the globus pallidus). Electrophysiological studies show that with dystonia, central inhibition of reflex muscle tension under the influence of tactile stimuli is disrupted. The leading role in pathogenesis is given to dopamine and its metabolites. Cortical control of planning and execution is impaired

movements, the thalamus does not suppress the reflex activity of the trunk and spinal cord. As a result, long-term pathological contractions of the agonist and antagonist muscle groups occur.

Most cases of primary dystonia begin before the age of 15. Dystonia first affects one of the limbs - the gait changes or handwriting is disrupted. Paradoxical phenomena (when a child cannot write on a piece of paper, but writes on a blackboard) are mistaken for hysteria, especially since dystonia completely disappears during sleep. The course of primary dystonia is variable and unpredictable. Often local dystonia becomes generalized. For example, local dystonia of the arm is subsequently accompanied by the appearance of dystonia in the leg. The severity of dystonia in the limbs can vary. Trunk dystonia with constant pathological postures leads to severe skeletal deformities (scoliosis, kyphosis, lordosis). Gradually, dystonia becomes fixed, muscle retractions and contractures develop. Dystonia with early onset is unfavorable. Severe muscle spasms can lead to dysfunction of internal organs, muscle necrosis, myoglobinuria and renal failure. Dystonia is accompanied by the appearance of other hyperkinesis, most often myoclonus and tremor. Children's intelligence does not suffer.

Domestic neurologists distinguish two main forms of primary dystonia: rigid And dystonic-hyperkinetic(Ivanova-Smolenskaya I.A., Markova E.D.).

Primary rigid dystonia (torsion dystonia) is characterized by an increase in muscle tone and the development of fixed pathological postures, most often in the legs, but sometimes in the arms, neck, and torso. The disease begins between the ages of 4 and 16 years. The course is relatively benign. Most often, the first dystonic movements appear in the foot, leading to gait disturbances. At first, the symptoms are intermittent and worsen under the influence of stress, but after a while they become permanent. Pathological postures are gradually accompanied by mild Parkinson-like symptoms: slowness of movements, “dystonic” tremor. Dystonia covers the muscles of the arms, and pronounced torsion spasms of the neck and torso appear. These dystonic movements occur in response to muscle activity in any other part of the body and can appear spontaneously. As a result, the pathological posture is fixed, and periodic athetoid hyperkinesis is observed in the limbs.

Primary dystonic-hyperkinetic dystonia (myoclonic dystonia, dystonia plus) begins in childhood, is characterized by a mild course and slow progression. Torsion dystonia is combined with myoclonus, mainly in the muscles of the neck, trunk and distal arms. Myoclonic twitching decreases at rest, when running, or fast walking; provoked by fear and excitement. Myoclonus disappears during sleep.

In primary dystonia, there is a decrease in the level of HVA (homovinilic acid), tetrabiopterin - a cofactor of tyrosine hydroxylase, which converts L-tyrosine into L-dopa; dopamine synthesis is impaired. The immediate and pronounced effect of levodopa is the main diagnostic criterion for dopa-dependent dystonia. While taking levodopa (no more than 500-1500 mg/day), the condition quickly normalizes with complete regression of symptoms.

Diagnosis dystonia is based on clinical symptoms. There are no paraclinical methods to confirm primary dystonia, except for genetic research. If the disease begins before age 24, genetic testing for DYT1 should be performed. Other genetic tests are not performed due to their technical complexity and high cost.

Secondary (symptomatic) options manifested by dystonia in combination with symptoms from other parts of the nervous system and internal organs. Secondary dystonias are characterized by a more severe course than primary ones; Fixed contractures and skeletal deformities occur more quickly. In case of dystonia in children, it is necessary to exclude hepatolenticular degeneration, taking into account the developed pathogenetic therapy for this disease.

Dystonia due to perinatal brain damage appears in children with pathology of the perinatal period up to three years of age, as the child develops a hyperkinetic form of cerebral palsy.

Hallervorden-Spatz disease usually debuts with dystonia, and only after 1-2 years the child may develop spastic paresis typical for this disease and a characteristic MRI picture (Fig. 5.4) - “tiger eyes”.

Fahr's disease(hereditary calcification of the basal ganglia due to pathology of the thyroid and parathyroid glands), juvenile form of Huntington's chorea and such hereditary diseases

metabolism, such as glutaric aciduria, Lesch-Nyhan syndrome, homocystinuria, Leigh syndrome in children are accompanied by dystonia.

Hemidystoniaalways has a symptomatic secondary nature and indicates an organic lesion of the contralateral hemisphere. It refers to secondary dystonia and occurs as a result of encephalitis, multiple sclerosis, traumatic brain injury, or tumor.

Dystonia due to drug intoxication (G 24.0) occurs especially often with the use of phenytoin, carbamazepine, phenothiazine, butyrophenone, benzamine, tricyclic antidepressants, antihistamines, ketamine, lithium and cerucal.

Chronic neuroleptic syndrome occurs with long-term use of high doses of antipsychotics. It is characterized by orofacial dystonia, particularly notable for stereotypical tongue thrusting, lip closure, and chewing (“rabbit syndrome”). To correct and prevent neuroleptic syndrome, an anticholinergic drug (cyclodol) is prescribed.

Acute neuroleptic syndrome - a neurological disorder that occurs immediately after the prescription of antipsychotics that block dopamine receptors. Main clinical features: fever, tachycardia, arterial hypertension, stiff neck, convulsions, confusion. This condition threatens the patient's life and requires emergency care. The antidote is dantrolene at a dose of 1.5 mg/kg and the dopamine D2 receptor agonist bromocriptine. Neuroleptic malignant syndrome is a severe variant of acute neuroleptic syndrome, usually leading to death due to rapid decompensation of the functions of vital organs.

Dystonia due to peripheral nervous system injury can only develop in older children and adults. The mechanisms of occurrence of this dystonia are unclear.

Rice. 5.4.MRI for Hallervorden-Spatz disease - “eyes of the tiger”, iron deposition in the globus pallidus

MRI for secondary dystonia always reveals damage to the basal ganglia, especially often to the fence, and corticostriatal connections. However, it should be said that in the early stages, for example, Hallervorden-Spatz disease, the brain may be intact according to MRI; Therefore, if dystonia is present in the clinic, it is necessary to conduct a dynamic magnetic resonance examination.

Differential diagnosis. Dystonias are differentiated from each other, and also exclude other diseases in which dystonia is symptomatic (for example, cerebral palsy, Hallerwarden-Spatz disease, etc.)

Treatment of dystonia

Medication: For the treatment of dystonia, various authors recommend many drugs [levodopa, antipsychotics, baclofen, clonazepam, muscle relaxants (sirdalud, mydocalm), carbamazepine], but their use is limited by a large number of side effects and a narrow therapeutic range.

Chemodenervation: use of botulinum toxin A injection into muscles. The interaction of botulinum toxin with acetylcholine receptors relaxes muscles. Used for focal dystonia. Duration of action is up to 6 months, after which repeated administration is necessary.

Surgical: selective denervation, rhizotomy, myomectomy, bilateral thalamotomy, pallidotomy. Deep stimulation of the globus pallidus was included in the treatment protocol for dystonia in the USA in 2004. Cryothalamectomy is performed for local forms of dystonia. This procedure can lead to clinical remission in most cases of hemidystonia and spasmodic torticollis. The effectiveness of surgical treatment of children with a generalized form is low, since the likelihood of return of clinical symptoms and the risk of complications (speech impairment, hemiparesis, ataxia and epilepsy) are high.

Familial (essential) Minor tremor

Hereditary (familial) tremor, manifested by trembling of the hands during movements, was described by the domestic neurologist L.S. Minor. The prevalence in the population is high and amounts to 5 per 1000. The disease is transmitted in an autosomal dominant manner, and sporadic cases are possible. Currently, two genes have been mapped - on chromosome 2p22-p25 and on chromosome 3q13. The pathogenesis of familial tremor is still unclear; no morphological changes have been found in the brain.

Physiological essential tremor with a frequency of 8 to 12 Hz depends on peripheral reflexes. This type of tremor occurs in absolutely all healthy people under stress, and sharply increases with high adrenergic activity: fatigue, cold, anxiety, hypoglycemia, as well as when taking medications: caffeine, thyroid hormones, antidepressants and phenothiazines. During sleep, the tremor completely disappears. The effect of tremor on active movements varies. Some patients retain the ability to perform even delicate types of work, others are forced to change professions.

Pathological essential tremor with a frequency of 4 to 7 Hz occurs due to a disruption in the interaction of the dentarubral pathway and segmental motor innervation (disturbance in the spinal apparatus of gamma-alpha coupling). Intravenous administration of propranolol does not affect pathological tremor.

Clinical manifestations. Symptoms usually become severe during puberty, but cases have been reported at 5 years of age and earlier. More common in males. During sleep, the tremor stops; significantly decreases or disappears after taking a small dose of alcohol. Thus, one of the observed S.N. Davidenkov, a musician who suffered from essential tremor, could perform on stage only after drinking 100 g of vodka (1960). There is no tremor in the lower extremities. Children with essential tremor can perfectly draw, embroider, play, assemble and glue toys. Speech and intelligence are not impaired, gait and muscle strength do not change. Symptoms progress initially, but in adults the clinical picture stabilizes and tremor does not affect daily activities. At a later age, the condition may suddenly worsen, and essential tremor develops into senile tremor.

Diagnosisessential tremor clinical; based on the exclusion of other basal ganglia diseases and the influence of medications. Hand tremors are noticeable during examination; to identify minor tremor, the patient is asked to stretch out his arms, write a few words, draw a straight line, etc. A slight shaking of the head can be felt by placing your hands on the patient's head.

Diagnostics

1. Duration more than 1 year.

2. Absence of pyramidal, cerebellar, sensory disorders and damage to peripheral nerves.

3. Normal intelligence.

4. Tremor is not associated with taking medications.

5. Absence of systemic diseases (for example, pathology of the thyroid gland).

6. Normal MRI result.

Additionally, a positive family history confirms the diagnosis of essential tremor. It should be noted that the localization and severity of tremor may differ among members of the same family.

Treatment.In most cases, tremors do not require treatment. However, propranalol, a beta-adrenergic receptor antagonist, reduces the manifestation of familial tremor.

Juvenile Parkinson's disease (G 20)

Symptoms of juvenile Parkinson's disease appear before age 20. This is the difference between juvenile Parkinson's disease and early-onset Parkinson's disease (the onset of symptoms between the ages of 20 and 40). The disease is inherited in an autosomal dominant and autosomal recessive manner. The gene for the autosomal dominant form is mapped on chromosome 4q21-23, and the autosomal dominant form with early onset is mapped on chromosome 2p13. The gene for the autosomal recessive form of juvenile Parkinson's disease is mapped to chromosome 6q15.2-27. It encodes the protein Parkin, which is found in abundance in all parts of the brain, including the substantia nigra.

Morphological examination reveals neuronal death and gliosis in the compact part of the substantia nigra.

Clinic.The first symptoms of the autosomal recessive form appear after 15 years. Gait is disturbed, retropulsion, tremor, hyperreflexia and dystonic positioning of the feet appear. All symptoms improve with sleep. There are no intellectual-mnestic disorders. No changes are detected on MRI.

Differential diagnosis. Juvenile Parkinson's disease is differentiated from Wilson-Konovalov disease, dopa-dependent dystonia and olivopontocerebellar atrophy.

Treatment.Replacement therapy with levodopa drugs.

5.2. Hereditary degenerative diseases of the brainstem, cerebellum and spinal cord

Hereditary degenerative diseases of the brainstem, cerebellum and spinal cord are characterized by slowly progressive

Rice. 5.5.Atactic gait

Rice. 5.6.Ataxia in standing position

Rice. 5.7.Patient with Friedreich's Ataxia

with the disintegration of functions that are regulated by these brain structures. The onset of diseases is in childhood and adolescence.

EtiologyIn most cases, it is hereditary; the disease is transmitted in an autosomal dominant or autosomal recessive manner.

Pathogenesis.The progressive course is due to atrophy of the nervous tissue within the affected area.

The classification of these disorders is based on genetic, clinical and pathological data.

Friedreich's ataxia (G 11.1)

Friedreich's ataxia (AF) was described by N. Friedreich in 1863. This is a hereditary disease characterized by slowly progressive ataxia due to sclerotic degeneration of the posterior and lateral columns of the spinal cord, hypoplasia of the cerebellum and spinal cord (Fig. 5.5-5.7). It is characterized by ataxia, nystagmus, kyphoscoliosis, and foot deformity. Patients are distinguished by a special dysmorphic status and have many skeletal anomalies, some of which are formed from birth. Approximately three out of four patients have a high arch (foot arch), toes

in the form of drumsticks, the small muscles of the foot are atrophied. Kyphoscoliosis is observed in 75-90% of cases.

The prevalence in the population is variable - up to a maximum of 10 cases per 100,000 with a high frequency of heterozygous carriage of the mutant gene - 1 per 120 people.

Genetics.The disease is transmitted in an autosomal recessive manner; the gene is mapped to chromosome 9q13. It encodes the mitochondrial protein frataxin, located on the inner surface of the mitochondrial membrane and involved in iron metabolism. In the intron of the pathological gene, the GAA (guanine adenine-adenine) repeat sequence is increased. The number of GAA repeats ranges from 6 to 29 in healthy people and from 120 to 1700 in patients, and the size of the repeats correlates with the age of onset and the severity of the disease. A pathologically elongated allele is genetically unstable and is capable of further expansion when transmitted to the next generation. As a result of the mutation, the level of normal frataxin decreases, iron is deposited inside the mitochondria, irreversible damage to mitochondrial function and disruption of oxidative phosphorylation occurs. As a result, cells of energy-dependent targets (brain, heart, pancreas, kidneys, liver) die.

Thus, Friedreich's ataxia is a mitochondrial disease associated with a mutation of the nuclear genome. Heterozygotes show no neurological symptoms.

Pathogenesisassociated with degeneration of the long conductors of the spinal cord. Along with the peripheral nerves, the medulla oblongata and, less commonly, the cerebellum can also be affected. These areas show axonal degeneration, demyelination, and compensatory gliosis. Degenerative changes are most pronounced in Clark's columns and the dentate nuclei of the cerebellum, but the nuclei of the medulla oblongata and Purkinje cells are also affected. Neuronal apoptosis and gliosis are observed in the vestibular and auditory nuclei. The level of proteolipids in the myelin sheath of conductors is reduced. Possible pathology from the internal organs: cardiomegaly with myocyte hypertrophy, and in the pancreas - chronic interstitial fibrosis and inflammatory infiltration. Diabetes mellitus is often detected.

Pathomorphology.The death of cells of Clark's columns and the spinocerebellar tracts starting from them is revealed, as well as (in the late stage of the disease) degeneration of the nuclei of III, V, IX-X, XII pairs of cranial nerves, Purkinje cells, the dentate nucleus and the superior cerebellar peduncle.

In these areas, axonal degeneration, demyelination and compensatory gliosis are detected.

Clinical manifestations. The age of onset is variable, but in one family the disease begins at the same age. The first symptoms can be observed as early as 2 years of age, the average age of onset is 10 years. The course is characterized by the appearance of new symptoms, relatively rapid progression of the process and a combination of typical neurological and extra-neural disorders.

Children begin to walk after a year and often fall. With a later onset, staggering occurs and walking in the dark is impaired (a sign of posterior columnar ataxia). Soon, ataxia when walking is accompanied by incoordination of the arms, changes in handwriting, and weakness in the legs.

On the part of the cranial nerves, visual acuity disturbances due to atrophy of the optic nerves, nystagmus (in 20-40% of cases), as well as hearing loss are detected. In addition, twitching of the eyeballs (myoclonus) may occur. Optic nerve atrophy may be congenital or rapidly worsen in the first year of life. In 40% of patients, color perception is impaired.

Vestibular disorders occur early and occur in approximately 50% of patients in the later stages of the disease. Deafness caused by degeneration of auditory neurons is also typical. The most notable symptom is combined cerebellar-sensitive ataxia, caused by damage to the cerebellum and dorsal columns with their sensory conductors. It is more pronounced in the legs than in the arms, and is revealed when examining the child’s gait and statics. It is possible to identify the absence of vibration and propriocetal sensitivity; in advanced cases, other types of sensitivity are impaired in the distal parts of the limbs.

Neurological examination reveals areflexia of the knee and Achilles reflexes. Weakness of the distal muscles of the lower extremities and atrophy of the small muscles of the arms and legs occur. Complaints of pain, cramps and paresthesia in the extremities are common.

In the advanced clinical stage, coordination disorders increase, and they are joined by weakness and atrophy of the muscles of the legs, and then the arms, up to tetraparesis. Speech becomes booming as a result of inconsistency between breathing and phonation. There are conflicting opinions regarding dementia: mental retardation and dementia are not typical for children.

Rice. 5.8.Friedreich type foot deformity

Rice. 5.9.Scoliosis with Friedreich's ataxia

Disorders of the pelvic organs are characteristic of the final stage of the disease, and an early symptom may be a sudden urge to urinate.

Among the extraneural manifestations of Friedreich's disease, it is necessary to highlight cardiac damage, which occurs in more than 90% of patients. Characterized by progressive hypertrophic or dilated cardiomyopathy. It is manifested by pain in the heart area, palpitations, shortness of breath on exertion, systolic murmur and other symptoms. In more than half of patients, cardiomyopathy is the direct cause of death.

Foot deformities - “Friedreich's foot” - are not pathognomonic for Friedreich's disease (Fig. 5.8) and occur in some other degenerative diseases of the nervous system, for example, in Charcot-Marie neural amyotrophy, Strumpell's spastic paraplegia, etc. Scoliosis is also common (Fig. 5.9) . Extraneural manifestations of Friedreich's disease include endocrine disorders (diabetes mellitus, hypogonadism, infantilism, ovarian dysfunction).

Neurological symptoms progress slowly, with a disease duration of up to 20 years, although a more rapid course of the disease is possible. Sometimes periods of stabilization are observed. Concomitant infections worsen the course of the disease and contribute to the appearance of new symptoms. A patient with advanced disease is bedridden and suffers from dysphagia and other bulbar symptoms. Death occurs from exhaustion or, more often, from myocarditis with severe heart failure. With good care, patients can live up to 40-50 years.

Additional research methods. When studying visual evoked potentials, a generalized decrease in the amplitude of potentials and an increase in the time of their appearance are revealed. The decrease in amplitude is probably a consequence of the breakdown of the fibers of the visual pathways.

Somatosensory evoked potentials, recorded from the supraclavicular leads differ from normal already in the very early stages of the disease, but they are not accompanied by a decrease in conductivity along the peripheral nerve.

MRImay reveal dilation of the fourth ventricle and atrophy of the superior vermis, brainstem and spinal cord.

When conducting ECG and Echo-CG signs of myocarditis are detected in 80-90% of cases. Conduction disturbances, up to complete blockade, and hypertrophy of the interventricular septum are especially common.

A cytochemical study of lymphocyte dehydrogenase enzymes reveals a significant decrease in succinate dehydrogenase (SDH), α-glycerophosphadedehydrogenase (GPDH), glutamate dehydrogenase (GDH), lactate dehydrogenase (LDH), malate dehydrogenase (MDH), etc.

It must be borne in mind that when molecular genetic examination Patients with clinically typical manifestations do not all show an increase in the GAA trinucleotide, an expansion of the allele. A point mutation or deletion in a gene on both chromosomes is possible. An autosomal recessive form of cerebellar ataxia has been described, in which tendon reflexes are preserved and there is no optic atrophy, diabetes or cardiac disorders. Symptoms appear between the ages of 18 months and 20 years, and the course is slower than in the classic form. In almost half of patients with this clinical picture, an increase in GAA repeats can be found.

Diagnosis.In a typical case, the clinical diagnosis is made on the basis of progressive ataxia, skeletal deformities, disturbances of visual evoked potentials and cardiopathy present since early childhood. The diagnosis is confirmed genetically (determining the size of GAA repeats).

Differential diagnosis first of all, it should be carried out with the second most common progressive ataxia with onset in childhood - ataxia-telangiectasia (Louis-Bar disease). Clinically, it is distinguished by the presence of telangiectasias on the skin (excessive local dilatation of small vessels, mainly

capillaries and capillaries), absence of skeletal abnormalities, frequent and severe respiratory tract infections, absence or extremely low levels of IgA, high levels of alpha-fetoprotein. MRI reveals hypoplasia of the cerebellum, most often of the vermis.

TreatmentFriedreich's ataxia has not been developed. Drugs that support mitochondrial function are used (Table 10). It is recommended to simultaneously administer drugs that increase the activity of the mitochondrial respiratory chain, cofactors of enzymatic reactions of energy metabolism, and antioxidants. Patients feel better when limiting the amount of carbohydrates in food to 10 g/kg, since they are a kind of “provocation” that increases the defect in energy metabolism.

Children with FA can remain active for as long as possible by engaging in physical therapy and corrective exercise routines designed to improve muscle strength and balance. With this exercise program, cardiomyopathy does not develop.

Orthopedic surgical treatment of skeletal deformities, especially progressive scoliosis, is indicated if an orthopedic corset is ineffective.

Table 10.Medications used to treat FD

Forecast.Friedreich's disease is characterized by a steadily progressive course; the duration of the disease can vary widely, but most often does not exceed 20 years. The immediate causes of death may be heart and pulmonary failure, infectious complications.

Spinocerebellar ataxia [olivopontocerebellar degeneration]. Olivopontocerebellar degeneration is a genetically and clinically heterogeneous condition. They are characterized by progressive cerebellar ataxia, tremor, dizziness, dysarthria, decreased deep sensitivity, oculomotor disorders and pyramidal symptoms. Less commonly observed are hyperkinesis, symptoms of peripheral paralysis and pelvic disorders. The pathological process affects neurons of the cerebellar cortex, pons and inferior olive nuclei, as well as to varying degrees the spinal cord and basal ganglia. The severity is determined by the nature of the mutation and the length of the pathological gene. As a result of molecular genetic studies, more than 10 types of ataxia have now been identified, which are called spinocerebellar atrophies (SCAs). But even with molecular genetic testing, approximately half of families with autosomal dominant cerebellar ataxia do not have any of the known mutations. However, the diagnosis of autosomal dominant cerebellar ataxia is based on the identification of a genetic mutation.

The average age of onset of these diseases is the fourth decade of life, but a number of conditions occur in children.

Etiology.Genes are mapped on chromosomes: SCA1 - on 6p22-23, SCA2 - on 12q24.1, SCA3 - on 14q32.1, SCA4 - on 16q21, SCA5 - on 11q13, SCA7 - on 3p12-13, SCA8 - on 13q21, SCA10 - on 22q13.

The gene for the SCA6 form is mapped to chromosome 19p13. And only in this form is the mechanism of operation of the gene, which encodes the alpha-1 subunit of voltage-dependent calcium channels, established.

The mechanism of mutations in SCA is a pathological increase in the number of trinucleotide repeats. The length of the repeats increases from generation to generation, so the longer the repeat, the earlier the disease debuts and the more severe it is (anticipation). This pattern of gene damage and disease manifestation is characteristic of Huntington's disease, myotonic dystrophy, Kennedy spinalbulbar amyotrophy and many other neurological diseases. Prevalence of individual genetic forms of SCA

varies in different populations. In North America, the predominant form is SCA3; in Russia, SCA1 is the most common form. In this form, the increased polyglutamine sequence provokes neuronal degeneration. Typically, the clinical picture debuts before the age of 15 years, and in boys earlier, since the repeats lengthen to a greater extent when inherited on the paternal side. Characterized by ataxia, ophthalmoplegia, pyramidal and extrapyramidal symptoms.

Morphologically, atrophy of the cerebellum and its peduncles, as well as the base of the pons, is revealed. The most severely affected are Purkinje cells and neurons of the dentate nucleus, as well as the basal ganglia, spinal cord, retina and peripheral nervous system.

Diagnosis and differential diagnosis is based on the time of onset, the characteristic combination of symptoms and the speed of their development in children whose parents suffer from progressive ataxia.

Familial spastic paraplegia. The disease is transmitted in an autosomal dominant, autosomal recessive or X-linked manner.

Pathogenesis.The main changes occur in the spinal cord. Axonal degeneration of the pyramidal tracts is always most pronounced in the distal sections. In the affected conductors, the axial cylinder and myelin sheath are destroyed. The ascending pathways are also affected, especially the dorsal columns, spinocerebellar fibers and cells of the spinal ganglia, which degenerate against the background of glial proliferation. There are no signs of primary demyelination. A muscle biopsy may reveal ragged red fibers.

Clinical picture similar in all forms. With recessive variants of the disease, the average age of development of the full clinical picture is 11.5 years, and with dominant ones - 20 years. However, in 40% of patients, the first symptoms appear before 5 years of age. Children begin to walk later, unsteadiness and clumsiness, and legs crossing in the form of scissors are revealed. Muscle tone in the legs and tendon reflexes are increased, and pathological foot symptoms are detected. This disease often occurs under the guise of cerebral palsy. It should be noted that with SSP there is no muscle atrophy and, despite damage to the posterior columns, vibration sensitivity is not impaired.

As a rule, the course of the disease is very slow, with the recessive form progressing faster. If a child suffers from either

another dominant form, his condition is relatively stable until the age of 30. The upper limbs often remain intact until the end stage. Somatic disorders are not observed in the early stages of the disease. In some familial cases, spastic paraplegia is combined with dementia, convulsions, hyperkinesis, optic neuritis, heart pathology, and skin hypopigmentation.

Diagnosis.In the absence of a family history, the diagnosis of hereditary paraplegia is made by exclusion. Conduction time along the motor and sensory nerves is not impaired, somatosensory evoked potentials are reduced, not only in patients, but also in clinically healthy family members. The progressive development of symptoms refutes the diagnosis of cerebral palsy. Sensory disturbances and dysfunction of the sphincters, usually characteristic of a spinal cord tumor, rarely occur in the early stages of the disease. However, in the absence of a convincing family history, MRI is required to exclude spinal cord neoplasms.

Treatment.Because the disease progresses slowly, an active program of physical therapy and exercise therapy should be used to prevent contractures.

The reason is banal - low life expectancy in Third World countries. But recently, people there have begun to live longer, which is why the cancer curve has also risen. Although cancer is international, it is distributed differently in different parts of the world.

Many geographical features of cancer have been explained. But there are enough secrets. In particular, the highest mortality rate from cancer is on the small island of Jersey, where the world famous "wildlife trust" founded by Gerald Durrell (Channel Islands, ownership) is located UK). Here, 314 people die per year from malignant tumors for every 100,000 inhabitants. In neighboring Great Britain, this figure is almost twice as low.

Hungary- the country with the highest mortality rate from cancer. Here, 313 people die from cancer per 100,000 inhabitants (per year). And the lowest mortality rate from cancer was recorded in nearby Macedonia, where there are 6 deaths from this disease per 100,000 inhabitants per year. Isn't it true that the difference is impressive?

The geography of specific forms of cancer is more understandable and explainable.

Pancreatic cancer

Most common in New Zealand, Denmark, Canada And USA. Scientists believe this is due to increased consumption of animal proteins and meat in these countries.

Thus, a New Zealand resident consumes up to 160 g of meat and fat daily. In Japan, Italy and Israel, where pancreatic cancer is rare, daily consumption of meat products and fat is no more than 80 g.

Cervical cancer

This disease depends on geography, and is directly related to sex life. Even in the last century, it was noticed that, as a rule, married women die from cervical cancer, while virgins and nuns are spared the trouble.

Later they found an explanation for this fact. It turned out that this female disease is caused by certain strains of the sexually transmitted human papillomavirus.

Lung cancer

Common where people smoke a lot. In "historical smokers" Scotland, Ireland And UK There are especially many cases of this disease.

Stomach cancer

Chose as his place of residence Japan And Russia- countries where they eat a lot of starch (potatoes, rice, flour products) and not enough animal proteins, milk, fresh vegetables and fruits.

In general, stomach cancer depends on a number of reasons. For example, eating pork is more dangerous than eating lamb or beef. The risk of developing stomach cancer is 2.5 times higher for those who consume animal oil every day. The incidence may even depend on the nature of the soil. Where there is a lot of molybdenum, copper, cobalt in the soil and little zinc and manganese, such as in Karelia, stomach cancer is much more common.

Liver cancer

More often diagnosed in Southeast Asia And Central Africa, as well as in Tyumen region.

Today it occupies one of the first places among male oncology. American experts warn of a real epidemic of prostate cancer in developed countries and predict at least a threefold increase in incidence in the next 30 years.

The Chinese and Japanese suffer least often from prostate cancer in their home countries. But as soon as a person from Southeast Asia moves to another country, the risk of this disease increases dramatically. So, among the Chinese living in California, it is 13-16 times higher. Therefore, there is every reason to believe that the cause of prostate cancer is living conditions and habits. For example, a commitment to red meat and animal fats. It is believed that animal fat increases the level of sex hormones in the blood and thereby provokes the disease. Including vegetable oil and fish oil in your diet reduces the chance of getting sick.

Breast cancer

Provoked by sex hormones (estrogens). More than a century of experience in studying this type of cancer has allowed scientists to draw clear conclusions: the later a woman has her first child, the higher the risk of breast cancer. The likelihood of getting sick, for example, increases three times if the first birth occurred at 30 rather than at 18 years old. Therefore, in countries where women give birth early (Central Asia and the Middle East, China, Japan), the incidence of breast cancer is low. Breast cancer is the most common in the UK.

It must be said that there are substances in the environment that affect the incidence of breast cancer. For example, tobacco smoke contains almost exact copies of estrogens. And they act accordingly - they provoke cancer.

But some plants contain compounds (flavonoids) that protect us from cancer. They are found (and a lot) in tea, rice, soy, apples, cabbage, salads, and onions. It is with the regular consumption of some of these products that scientists associate the low incidence of breast cancer in the East (China, Japan).

Testicular cancer

A relatively rare tumor. It affects mainly white-skinned men (the highest incidence rate is in Norway, Denmark, Switzerland). Although it is difficult to explain why, for example, the incidence rate in Denmark is 4 times higher than in neighboring Finland, and 9 times higher than in Lithuania.

In developed countries, every fourth person is at risk of developing cancer during their lifetime, and every fifth person is at risk of dying from it. There have always been fewer cancer patients in developing countries. The reason is simple - low life expectancy. But recently, here too, people have begun to live longer, which is why the cancer curve has also risen.