CLINICAL DIAGNOSIS SCALE FOR NEUROENDOCRINE CELL HYPERPLASIA IN INFANTS: INFORMATIVENESS AND DIFFERENTIAL DIAGNOSTIC SIGNIFICANCE

Neuroendocrine cell hyperplasia of infancy (NEHI) is an interstitial lung disease of unknown etiology that develops in the first year of life and manifests itself as persistent tachypnea syndrome. The aim of the study was to determine the diagnostic value of the clinical scale for the diagnosis of NEHI in comparison with computed tomography (CT) data of the chest organs and for differential diagnosis with acute bronchiolitis (AB)/community-acquired pneumonia (CAP). Materials and methods of research: a multicenter case-control study of children aged 21 days of life to 12 months was carried out: – 83 children with NEHI and 83 infants with AB or CAP. To determine the sensitivity and specificity of this scale for differential diagnosis with AB/CAP, the results of the assessment according to the proposed scale were compared in patients with NEHI (study group) and patients with AB/CAP (control group) on the day of treatment and after 3 weeks. Results: the sensitivity of the clinical scale for the diagnosis of NEHI when compared with the CT data of the chest organs was 85.5%. In the differential diagnosis of NEHI with AB/CAP on the day of treatment, the sensitivity of the clinical scale for the diagnosis of NEHI was 85.5%, the specificity was 80.7%; when re-evaluated after 3 weeks, the accuracy of the scale increased from 83.1% to 91.6%, the specificity – from 80.7% to 97.6%. Diagnosis on a scale after 3 weeks reduced the possibility of overdiagnosis of NEHI from 19.3% to 2.4%. Conclusions: the clinical scale for the diagnosis of NEHI has a high diagnostic value in comparison with the results of CT scan of the chest organs and for differential diagnosis with AB/CAP, especially when re-evaluating. © 2022, Pediatria Ltd. All rights reserved

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

Issues of diagnosis and management of patients with neuroendocrine cell hyperplasia of infancy

Neuroendocrine hyperplasia of infancy (NEHI) is an interstitial lung disease (ILD) of unknown etiology, which develops in infancy and manifests as persistent tachypnea. Objective of the research: to summarize results of observations of patients with NEHI, including during the pandemic of a new coronavirus infectious disease (COVID-19). Materials and methods: clinical and follow-up observation, laboratory and instrumental examination, including lung biopsy, 52 children with NEHI aged from 21 days to 10 years. Results: NEHI more often affects boys in the first 6 months of life; can be diagnosed on the basis of pediatric ILD-syndrome detection; specific CT signs, lung biopsy. It is characterized by undulating course with increased respiratory failurec aused by acute respiratory viral infections, COVID-19; half of the patients need oxygen therapy. © 2020, Pediatria Ltd.. All rights reserved

Congenital deficiency of surfactant protein c: Literature review and first clinical observations in the russian federation

Surfactant is a complex mixture of phospholipids, neutral lipids and specific surfactant-associated proteins. Genetic diseases associated with gene mutations of surfactant proteins are rare, and treatment options for these children are currently limited. The article presents modern information on congenital deficiency of surfactant protein C, its genetics, pathogenesis, histological patterns, clinical and radiological manifestations in children and adults, outcomes and therapy. It also provides clinical observations of first three pediatric patients in the Russian Federation with this disease, including a rare manifestation in the form of primary pulmonary alveolar proteinosis. © 2018, Pediatria Ltd. All rights reserved

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

Organic chemistry. History and mutual relations of universities of Russia

The review describes the history of development of organic chemistry in higher schools of Russia over a period of 170 years, since the emergence of organic chemistry in our country till now. © 2017, Pleiades Publishing, Ltd

Organic chemistry. History and mutual relations of universities of Russia

The review describes the history of development of organic chemistry in higher schools of Russia over a period of 170 years, since the emergence of organic chemistry in our country till now. © 2017, Pleiades Publishing, Ltd