Aim. Early detection and timely appropriate surgical treatment of congenital heart disease in order to reduce infant mortality. Methods. The algorithm was designed for the prediction of critical conditions in congenital heart disease in newborns. The algorithm is simple to use, because it does not set a pediatrician-neonatologist a difficult task for the accurate diagnosis of congenital heart disease, but leads physician from the syndromic diagnosis to a certain group of diseases and, therefore, appropriate strategy of patient treatment and management. The algorithm combines both syndromes and hemodynamic conditions causing them. The conditions are divided into fetal-dependent and fetal-independent, which determines the time of surgery. The questionnaire consisting of a series of questions with multiple choice answers helps the doctor to see into the symptoms and syndromes. The questions are made in a way to emphasize the certain signs, the details of medical history and disease progression to pediatricians. It is important to notice that 13 out of 20 questions are based on the medical history and clinical picture, 7 questions are based on the test results such as electrocardiography, radiography, and do not include echocardiography. Results. Since 2000, the questionnaire was implemented in the Republic of Tatarstan as a recommended diagnostic algorithm for examining newborns with congenital heart disease. Since 2003, the questionnaire and algorithm for prediction of the critical conditions was introduced by the order №867 of the Ministry of Health of the Republic of Tatarstan «On measures to improve health care in congenital heart disease in children». Remote consultations with maternity hospitals are strictly based on them. They carry a certain training load, and when doctors pronounce aloud all the items of the test, the examination algorithm gradually becomes automatic. Conclusion. During 13 years of using the proposed diagnostic algorithm for congenital heart disease with physiological rationale for palliative care and timely terms of surgery, the mortality rate from congenital heart disease in the Republic of Tatarstan has significantly dropped.
Restrictive cardiomyopathy often results in chronic heart failure. Knowledge of family history and genetic examination are extremely important for the early diagnostics of a family restrictive cardiomyopathy and prescription of non-specific therapy. The article describes clinical case of familial restrictive cardiomyopathy with a burdened family history.
This article describes a clinical case of a rare Schwachman–Diamond syndrome. It covers the features of the clinical picture of the disease and the laboratory examinations. A multidisciplinary approach for the purpose of early diagnosis, timely initiation of complex treatment, including nutritional therapy, prescription of enzyme preparations and granulocyte colony-stimulating factor, makes it possible to improve the quality of life and prognosis in such patients.
Background. Mixed connective tissue disease (Sharp syndrome) is the rare chronic autoimmune pathology combining various features of systemic lupus erythematosus, systemic scleroderma, rheumatoid arthritis, dermatomyositis and high antibody titer to nuclear ribonucleoprotein. The mixed connective tissue disease may evolve into other systemic diseases over time. Description of any cases of mixed connective tissue disease and its evolution in Russian patients has not been published previously.Clinical Case Description. The results of observations of the child with clinical and immunological signs of the mixed connective tissue disease followed by the progression of systemic scleroderma symptoms and development of Sjogren's syndrome in the short period of time are presented in the article. Improvement (such as pain attenuation, increase in volume of movements in affected joints, decrease of Raynaud syndrome manifestations duration) was observed on treatment (methotrexate 10 mg/week with subsequent addition of prednisolone 0.75 mg/kg/day).Conclusion. Timely diagnostics of clinical signs of the systemic diseases debut is crucial for correct patient routing and for achieving of disease improvement.
Disorders of lipid metabolism in endocrine diseases are a frequent occurrence in the daily practice of a doctor and usually have secondary nature. In thyrotoxicosis they have normal or decreased level of total cholesterol and low-density lipoproteins. A clinical case of a patient with thyrotoxicosis, hypercholesterolemia and hypertriglyceridemia is presented. The clinical and laboratory results of the study of the child and his parents are presented. DNA testing was conducted to clarify the diagnosis and conduct differential diagnosis of dyslipidemia type. This case shows difficulties in the diagnostic search for the etiology of dyslipidemia and its correction.
Methemoglobinemia refers to a group of hemoglobinopathies which characterized by an increase of the hemoglobin (Hb) amount, in which oxidation of ferrous iron to ferric iron is observed with the loss of the ability to reversibly bond with oxygen and the development of hemic hypoxia. Cyanosis is the most common symptom of methemoglobinemia and is the reason for the differential diagnosis of cardiovascular and respiratory diseases. Timely determination of the cause of cyanosis in a newborn can be a difficult task. By origin, cyanosis in children at birth and in the first weeks of life is cardiac, respiratory, cerebral, metabolic, and hematological. The prognostic value of cyanosis is different for different diseases. Pronounced and persistent cyanosis in diseases of the lungs and heart indicates a high degree of respiratory or heart failure and prognostic unfavorable. Most of the causes of acute cyanosis is an immediate threat to the life of the patient. Prolonged tissue hypoxia in patients with persistent cyanosis leads to the development of secondary erythrocytosis, an hematocrit increase, blood viscosity, which worsens the microcirculation in tissues, aggravating the deficit of tissue respiration. If cyanosis is detected in infants, differential diagnosis should include hemoglobinopathies, in particular, methemoglobinemia. A carefully collected medical history, the exclusion of all possible causes of cyanosis and hypoxemia, and the assessment of methemoglobin in the blood allow a timely diagnosis. The purpose of the article is to describe the clinical observation of methemoglobinemia in an infant with a detailed discussion of the characteristics of the case.
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