Белок-теряющая энтеропатия - осложнение операции Фонтена у ребенка с единственным желудочком сердца:клиническое наблюдение

A single ventricle is a congenital heart disease of the cyanotic type, characterized by the presence of three cardiac chambers - two atriums and single ventricle communicating with them through two atrioventricular valves. The aorta and the pulmonary artery - two great vessels - spring from this single ventricle. The issue of preventing postoperative complications of this congenital heart disease remains urgent until present day. The article presents a clinical observation of a child with single ventricle, complicated by a secondary protein-losing enteropathy after Fontan procedure.Единственный желудочек сердца - врожденный порок сердца цианотического типа, характеризующийся наличием трех камер сердца - двух предсердий и сообщающегося с ними через два атриовентрикулярных клапана единственного желудочка сердца, из которого через аортальный клапан и клапан легочной артерии отходят два магистральных сосуда. До настоящего времени остается актуальным вопрос предотвращения послеоперационных осложнений данного порока. В статье представлено клиническое наблюдение ребенка с единственным желудочком сердца, осложнившимся вторичной белок-теряющей энтеропатией после операции Фонтена

Белок-теряющая энтеропатия - осложнение операции Фонтена у ребенка с единственным желудочком сердца:клиническое наблюдение

A single ventricle is a congenital heart disease of the cyanotic type, characterized by the presence of three cardiac chambers - two atriums and single ventricle communicating with them through two atrioventricular valves. The aorta and the pulmonary artery - two great vessels - spring from this single ventricle. The issue of preventing postoperative complications of this congenital heart disease remains urgent until present day. The article presents a clinical observation of a child with single ventricle, complicated by a secondary protein-losing enteropathy after Fontan procedure.Единственный желудочек сердца - врожденный порок сердца цианотического типа, характеризующийся наличием трех камер сердца - двух предсердий и сообщающегося с ними через два атриовентрикулярных клапана единственного желудочка сердца, из которого через аортальный клапан и клапан легочной артерии отходят два магистральных сосуда. До настоящего времени остается актуальным вопрос предотвращения послеоперационных осложнений данного порока. В статье представлено клиническое наблюдение ребенка с единственным желудочком сердца, осложнившимся вторичной белок-теряющей энтеропатией после операции Фонтена

ROHHAD-синдром

The literature review is devoted to a rare variant of hypoventilation, sleep-dependent, in children - central hypoventilation with a late onset and hypothalamic dysfunction, ROHHAD syndrome (Rapid-onset Obesity, Hypothalamic dysregulation, Hypoventilation, Autonomic Dysregulation). Diagnosis and management of patients with this syndrome requires a multidisciplinary approach of a team of specialists. On the basis of modern data, the issues of clinical and laboratory-instrumental diagnosis of the disease, possible etiological factors, diagnostic criteria and frequency of symptoms, approaches to therapy and prognosis are presented.Обзор литературы посвящен редкому варианту гиповентиляции, зависимой от сна, у детей - центральной гиповентиляции с поздним началом и гипоталамической дисфункцией, ROHHAD-синдрому (англ.: быстро прогрессирующее ожирение (Rapid-onset Obesity) с гипоталамической дисрегуляцией (Hypothalamic), гиповентиляцией (Hypoventilation) и автономной (вегетативной) дисфункцией (Autonomic Disregulation). Диагностика и ведение пациентов с данным синдромом требует мультидисциплинарного подхода команды специалистов. На основании современных данных представлены вопросы клинической и лабораторно-инструментальной диагностики заболевания, возможные этиологические факторы, диагностические критерии и частота симптомов, подходы к терапии и прогноз

Issues of diagnosing ROHHAD Syndrome in a 2-year-old girl : A Case Report and Review of Literature

We present a clinical case of ROHHAD syndrome. In this article we discuss the rare occurrence of this pathology and, as a result, the issues  encountered in the diagnosis and treatment of such children. Thus, in highlighting the problem, the team of Authors set the goal of emphasizing the importance of timely diagnosis, as well as correctly selecting comprehensive treatment for children with ROHHAD syndrome

Clinical observation of neonatal thyrotoxicosis

The article presents a clinical observation of neonatal thyrotoxicosis. The importance of this description is due to rare occurrence of this pathology and, as a consequence, difficulties encountered in diagnostics, treatment and prevention of such conditions in newborns. Thus, addressing the problem, authors emphasize the importance of timely prevention and properly chosen treatment of hyperthyroidism in pregnant women, or women planning to have a child. © 2019, Pediatria Ltd. All rights reserved

POSSIBILITIES OF EARLY DIAGNOSIS OF PRIMARY CILIARY DYSKINESIA

Despite the manifestations of primary ciliary dyskinesia (PCD) in the neonatal period or in the first year of life, the diagnosis of this rare disease is usually established at the age of 4–7 years. The aim of the study was to search for reserves for early diagnosis of PCD. Materials and methods of research: 17 patients were observed with PCD, confirmed on the basis of the PICADAR scale, high-speed light video microscopy (all patients) and transmission electron microscopy (in 3 patients) of the mucous biopsy of the respiratory membrane using a genetic study (in one patient). Results: all patients were born full-term; neonatal respiratory distress syndrome (RDS) was observed in 71% of patients; the median duration of mechanical ventilation/oxygen therapy was 14 [7; 21] days; lateralization abnormalities were found in 35% of patients; all patients had persistent nasal congestion and/or rhinorrhea, 94% had chronic or recurrent sinusitis, otitis, recurrent pneumonia, chest x-ray and computed tomography (CT) scans in 71% had atelectasis with constant localization in the middle lobe, 12 of 15 patients, traced in the follow-up, – bronchiectasis (BE), also mainly in the middle lobe (in 9 patients). The average age at diagnosis was 5 [1.75; 7] years, patients with an established diagnosis over the age of 3 years were more often diagnosed with BE. The median of PICADAR scores was 7 [6; 8] points. Conclusions: to establish early diagnosis of PCD, it is important to consider neonatal RDS, lateralization of organs, difficulty in nasal breathing, starting from the first half of life. © 2022, Pediatria Ltd. All rights reserved

Практикум по педиатрии: учебное пособие для студентов 5-го курса

Practicum in Pediatrics includes 132 clinical cases of diseases of newborns, infants and older children. In the cases, there are discharge reports from the medical records of real patients with common diseases in pediatric practice (perinatal and neonatal diseases, deficiency conditions, anemia, as well as diseases of lungs, heart, joints, gastrointestinal tract, kidney and allergy). After discharge reports, there are questions and at the end of each section – diagnostic keys. The method of case studies refers to a non-gaming simulation methods of interactive learning and allows to apply theoretical knowledge to solve practical problems, trains making the right decisions in particular situations. Cases are designed to discuss them at classroom practice sessions, for self-study and for control of knowledge at the exam. The manual is aimed at students, residents, graduate students, pediatricians. Prepared by the Department of Pediatrics, Medical Faculty of Peoples' Friendship University of Russia

Issues of diagnosing of the rohhad syndrome in a 2-year-old girl

The article presents a clinical observation of ROHHAD syndrome. The importance of this description is due to the rare occurrence of this pathology and, as a result, the issues encountered in the diagnosis and treatment of such children. Thus, in highlighting the problem, the team of authors sets the goal of emphasizing the importance of timely diagnosis, as well as correctly selected comprehensive treatment for children with ROHHAD syndrome. © 2020, Pediatria Ltd. All rights reserved