PSYCHOLOGICAL CARE FOR SCHOOL-AGE PATIENTS WITH CORONAVIRUS INFECTION IN THE HOSPITAL

For the first time in pediatric practice, the psychological state of 100 children (7-17 years old) with COVID-19 in the state of hospitalization was studied on the basis of the Scientific Medical Research Center of Children's Health of the Russian Ministry of Health Care and the directions of psychological and pedagogical assistance were determined. Analysis of medical and psychological-pedagogical documentation, conversation, observation, screening diagnostics were conducted. It was established that according to the totality of physical and psychological factors (the main psychological difficulty) patients can be grouped into the following groups: children in a severe physical state, with unstable manifestations of mental activity (n = 4; 4%); children in a predominantly moderately severe state with significant distress related to the disease (n = 48; 48%); children in a satisfactory physical state, with mild and mostly situational difficulties in adapting to the situation of hospitalization (n = 46; 46%); children in a satisfactory physical state, in a relatively stable positive psychological state (n = 2; 2%). Consideration of the severity of their physical and psychological condition and their basic psychological difficulties allows differentiated psychological aid to be rendered to children and teenagers in special conditions of the «red zone»

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

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

DISEASES ASSOCIATED WITH MUTATIONS IN THE FILAMIN A GENE: THE DIFFICULT PATH TO DIAGNOSIS (TWO CLINICAL CASES)

The article presents the first descriptions of observations in the Russian Federation, the difficult path to diagnosis in two young girls with diseases associated with mutations in the filamin A gene, characterized by damage to the central nervous system (periventricular nodular heterotopy), lungs (interstitial emphysematous lesion due to impaired growth), cardiovascular system (open arterial duct, high pulmonary hypertension, insufficiency of heart valves, large vessels). Clinical and anamnestic data, the results of laboratory and instrumental diagnostic methods, including molecular genetic ones, which allowed to identify unique, previously undescribed mutations, the characteristics of the course of the disease, the treatment being carried out, are presented. © The Authors

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

New horizons for fundamental physics with LISA

International audienceThe Laser Interferometer Space Antenna (LISA) has the potential to reveal wonders about the fundamental theory of nature at play in the extreme gravity regime, where the gravitational interaction is both strong and dynamical. In this white paper, the Fundamental Physics Working Group of the LISA Consortium summarizes the current topics in fundamental physics where LISA observations of gravitational waves can be expected to provide key input. We provide the briefest of reviews to then delineate avenues for future research directions and to discuss connections between this working group, other working groups and the consortium work package teams. These connections must be developed for LISA to live up to its science potential in these areas

New horizons for fundamental physics with LISA

International audienceThe Laser Interferometer Space Antenna (LISA) has the potential to reveal wonders about the fundamental theory of nature at play in the extreme gravity regime, where the gravitational interaction is both strong and dynamical. In this white paper, the Fundamental Physics Working Group of the LISA Consortium summarizes the current topics in fundamental physics where LISA observations of gravitational waves can be expected to provide key input. We provide the briefest of reviews to then delineate avenues for future research directions and to discuss connections between this working group, other working groups and the consortium work package teams. These connections must be developed for LISA to live up to its science potential in these areas

New horizons for fundamental physics with LISA

International audienceThe Laser Interferometer Space Antenna (LISA) has the potential to reveal wonders about the fundamental theory of nature at play in the extreme gravity regime, where the gravitational interaction is both strong and dynamical. In this white paper, the Fundamental Physics Working Group of the LISA Consortium summarizes the current topics in fundamental physics where LISA observations of gravitational waves can be expected to provide key input. We provide the briefest of reviews to then delineate avenues for future research directions and to discuss connections between this working group, other working groups and the consortium work package teams. These connections must be developed for LISA to live up to its science potential in these areas

New horizons for fundamental physics with LISA

International audienceThe Laser Interferometer Space Antenna (LISA) has the potential to reveal wonders about the fundamental theory of nature at play in the extreme gravity regime, where the gravitational interaction is both strong and dynamical. In this white paper, the Fundamental Physics Working Group of the LISA Consortium summarizes the current topics in fundamental physics where LISA observations of gravitational waves can be expected to provide key input. We provide the briefest of reviews to then delineate avenues for future research directions and to discuss connections between this working group, other working groups and the consortium work package teams. These connections must be developed for LISA to live up to its science potential in these areas