Clinical case of an isolated corrected transposition of the great arteries Author affiliation: Revunenkov Grigorii Valer'evich, MD, doctor at the department of ultrasonic diagnostics of the Consultative-Diagnostic Center of the Scientific Center of Children's Health Address: 2/2 Lomonosovskiy Ave.

Mucopolysaccharidosis (MPS) type IVA (Morquio syndrome) is a hereditary lysosomal storage disease caused by deficiency of N-acetylglucosamine-6-sulfate sulfatase. This enzyme deficiency leads to specific glycosaminoglycans (keratan sulfate and chondroitin-6-sulfate) accumulation mainly in the bone and cartilage tissues, as well as in the cardiovascular, respiratory systems, and visual systems. Patients with MPS IVA look healthy at birth, however, they develop typical spine deformities (kyphoscoliosis), pectus carinatum, wrists hypermobility with decreased muscle strength and loss of fine motor skills, valgus deformation of lower limbs during the first years of life. Pathological changes in cardiovascular and respiratory systems, visual and acoustic analyzers can be revealed. Early diagnosis of the disease is crucial for timely initiation of enzyme replacement therapy. Thus, low incidence of the disease and its heterogeneous clinical picture complicates diagnosis. Consequently, patients with MAS IVA often become severely disabled as early as adolescence. Patients with severe form and without treatment die before the age of 30 due to complications of respiratory system diseases, valvular heart apparatus involvement, and cervical myelopathy.

Background. Thrombocytopathies are topical issues of pediatrics. Platelet dysfunction clinically manifests as thrombotic and hemorrhagic events of various severity and location. Platelet function can be evaluated via aggregatometry. Specified parameters for aggregatometry can be used in pediatrics as a standard for evaluating platelet function in peripheral blood. There were no similar studies in children in Russian Federation.Objective. The aim of the study is — to justify the significance of reference ranges (RR) development for platelet aggregatometry in pediatrics.Methods. The study included 30 relatively healthy patients aged from 1 to 18 years. Laboratory tests included complete blood count via automatic hematological analyzer; platelet aggregation in whole blood was evaluated via impedance aggregometer; plasmic hemostasis component (Quick prothrombin), activated partial thromboplastin time (APTT), thrombin time (TT), and fibrinogen were evaluated on automatic coagulation analyzer; molecular genetic study of platelet genes polymorphisms was performed via real-time PCR. Several inducers were used to study platelet aggregation: thrombin receptor activating peptide (TRAP), adenosine diphosphate (ADP), arachidonic acid (ASPI). Instrumental methods included electrocardiography, ultrasound of abdomen, urinary system, and thyroid gland.Results. The study included 16 girls and 14 boys. The median age was 9.4, interquartile range (IQR) was 6.5; 14,1. RR for platelet aggregation indicators were determined for all aggregation inducers (thrombin, ADP, arachidonic acid) as a result of the study.Conclusion. The obtained data will allow to improve the diagnosis approach for platelet dysfunction regarding the established reference ranges. The results of further research may contribute in the development of the algorithm for controlling antiplatelet therapy in patients with contraindications or with genetically determined low sensitivity to thrombocyte aggregation inhibitors based on acetylsalicylic acid.

Background. Psoriasis is a polygenic multifactorial immune-mediated disease. Its course can be aggravated by associated obesity. Recently, there is negative trend that is characterized by the increase in the number of moderate to severe psoriasis cases among children, and majority of them have obesity. Identification of factors that that are relevant in these two conditions will allow us to improve and optimize the genetically engineered biological therapy for this category of patients.Objective. The aim of the study is to evaluate epicardial adipose tissue thickness, serum leptin levels, eating behavior via the data from Children’s Eating Behaviour Questionnaire (CEBQ) for patients with psoriasis and obesity, and compare the results with control group – patients with psoriasis and no associated obesity.Results. We have studied 12 patients with established diagnosis of psoriasis, 5 of them had diagnosis of obesity. Epicardial fat thickening was revealed in 20% of cases in the study group (patients with psoriasis and obesity), and no epicardial fat thickening was revealed in the control group. The increase in serum leptin was revealed in 100% of cases in obese patients with psoriasis, and only in 14% of cases in the control group. The mean leptin level in obese patients was 16.65 ng/ml, in the group with normal body weight – 7.08 ng/ml. Obese patients have shown higher values in “food approach” scales group in comparison to normal weight patients.Conclusion. Patients with obesity and psoriasis has shown elevated leptin levels, higher incidence of epicardial fat thickening, and tendency to develop abnormal eating behavior.

Своевременная и правильная диагностика инфаркта миокарда у новорожденных невозможна без современных инструментальных высокоинформативных методов исследования, среди которых ведущим является эхокардиография. В статье представлено клиническое наблюдение ребенка в возрасте 3 дней жизни, направленного на обследование в связи с недостаточностью кровообращения, требующего кардиотонической поддержки. При эхокардиографии было установлено наличие гиперэхогенного дискинетичного локуса в апикальном сегменте правого желудочка (постинфарктный рубец), локального перикардиального выпота в той же проекции, гиперэхогенного подвижного образования (тромб) в апикальном сегменте правого желудочка, что вместе с результатами электрокардиографии позволило установить наличие инфаркта миокарда и выраженность нарушения гемодинамики. Данные трансторакальной эхокардиографии позволили правильно интерпретировать клиническую картину сердечной недостаточности и выявить причину зависимости пациента от кардиотонической поддержки. Ключевые слова: инфаркт миокарда у новорожденных, трансторакальная эхокардиография, диагностика, электрокардиография, функциональная диагностика, ультразвуковая диагностика.