УСКОРИТЕЛЬНЫЕ И РАДИОНУКЛИДНЫЕ ТЕХНОЛОГИИ В КЛИНИЧЕСКОЙ МЕДИЦИНЕ

Methods based on accelerative and radionuclide technologies are more and more invading clinical practice of modern medicine. The aim of this review is to demonstrate the role of nuclear physics techniques for treatment and diagnostics of various disorders. We analyzed data published in the last 50 years in research papers, reports and other open sources considering particulars of electron accelerators and heavy charged particles in radiation and nuclear medicine and presenting the information on prevalence of accelerators and other high-tech medical equipment in Russia and worldwide.В клиническую практику современной медицины все активнее проникают методы, основанные на использовании ускорительных и  радионуклидных технологий. Цель данного обзора  – показать роль ядерно-физических методов в  лечении и  диагностике заболеваний. Проанализированы данные, опубликованные в  течение последних 50 лет в  научных статьях, отчетах и  других открытых источниках. Рассмотрены особенности применения в  лучевой терапии и  ядерной медицине ускорителей электронов и тяжелых заряженных частиц, приведены сведения о распространенности ускорителей и другой высокотехнологичной медицинской техники в России и в мире.

Brain–lung–thyroid syndrome: Literature review and series of clinical observations

Brain–lung–thyroid syndrome (BLTS) is a rare genetic disease associated with mutations in the NKX2.1 gene encoding thyroid transcription factor 1. The most common manifestations of this syndrome are benign hereditary chorea, hypothyroidism and respiratory distress syndrome, however, mutations in the NKX2.1 gene can also cause other pathologies of nervous, respiratory systems and thyroid gland. The article describes 4 patients with mutations in the NKX2.1 gene observed by authors. Based on the analysis of the observations of 168 patients with BLTS presented in the world literature from 1998 to 2019, current information on the genetics, pathogenesis, clinical X-ray manifestations, outcomes and treatment of the syndrome are summarized. © 2019, Pediatria Ltd. All rights reserved

Синдром "мозг-легкие-щитовидная железа": обзор литературы и серия клинических наблюдений

Brain-lung-thyroid syndrome (BLTS) is a rare genetic disease associated with mutations in the NKX2.1 gene encoding thyroid transcription factor 1. The most common manifestations of this syndrome are benign hereditary chorea, hypothyroidism and respiratory distress syndrome, however, mutations in the NKX2.1 gene can also cause other pathologies of nervous, respiratory systems and thyroid gland. The article describes 4 patients with mutations in the NKX2.1 gene observed by authors. Based on the analysis of the observations of 168 patients with BLTS presented in the world literature from 1998 to 2019, current information on the genetics, pathogenesis, clinical X-ray manifestations, outcomes and treatment of the syndrome are summarized.Синдром «мозг-легкие-щитовидная железа» (СМЛЩЖ) - редкое генетическое заболевание, ассоциированное с мутациями в гене NKX2.1, кодирующем тиреоидный фактор транскрипции-1. Наиболее частыми проявлениями данного синдрома являются доброкачественная наследственная хорея, гипотиреоз и респираторный дистресс-синдром, однако мутации в гене NKX2.1 могут быть причиной и другой патологии со стороны нервной, дыхательной систем и щитовидной железы. В статье представлено описание 4 пациентов с мутациями в гене NKX2.1, наблюдавшихся авторами. На основании анализа наблюдений 168 пациентов с СМЛЩЖ, представленных в мировой литературе с 1998 по 2019 гг., обобщены современные сведения о генетике, патогенезе, клинико-рентгенологических проявлениях, исходах и терапии синдрома

The structure of interstitial lung diseases in children of the first two years of life

For the first time in Russia, the article provides data on interstitial lung diseases structure in children of the first two years of life, based on a series of observations of 68 patients with these rare diseases, as a part of multi-center ambispective study. Interstitial lung diseases in observed children included: Wilson-Mikity syndrome (23,4%), neuroendocrine hyperplasia of infancy (22%), bronchiolitis obliterans with organizing pneumonia (7,4%), primary pulmonary hypoplasia (1,5%), secondary pulmonary hypoplasia with Jeune syndrome (10,3%), secondary pulmonary hypoplasia with Edwards syndrome (2,9%), secondary pulmonary hypoplasia with other associated pathology (omphalocele - 1,5%, non-immune fetal hydrops - 1,5%), subpleural cysts in patients with Down syndrome (5,9%), congenital deficiency of surfactant protein B (1,5%), brain-lung- thyroid syndrome (2,9%), congenital alveolar-capillary dysplasia (1,5%), interstitial lung diseases with systemic diseases (Langerhans cell histiocytosis - 16,2%, Niemann-Pick disease - 1,5%). The article summarizes clinical features, the results of image diagnosis and disease outcomes. © 2015, Pediatria Ltd. All rights reserved