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.
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.
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