Место работы автора, адрес/электронная почта: Республиканская больница N 1 - Национальный центр медицины ; 677010, г. Якутск, ул. Сергеляхское шоссе, 4 ; https://rb1ncm.ru
Ученая степень, ученое звание: канд. мед. наук
Количество страниц: 4 с.
The article presents 2 clinical cases of congenital central hypoventilation (CCHS) in children in the Republic Sakha (Yakutia). The first case is a child born in 2016; the diagnosis was confirmed at 7 months of age. The second case is a child born in 2018; the diagnosis was confirmed before 1 month of life. In clinical practice, there is often a hypodiagnosis of this disease, which explains the rarity of its definition. Taking into account clinical manifestations and depending on their intensity, early diagnosis prevents undesirable consequences of hypoxia and hypercapnia episodes, provides proper control over asphyxia episodes and determines the disease prognosis. Since CCHS usually manifests itself in the neonatal period and mimics a multitude of diseases, differential diagnosis requires the elimination of a variety of conditions accompanied by alveolar hypoventilation, including congenital myasthenia, a number of myopathies, diaphragm dysfunction, various lung and heart defects
Случаи синдрома врожденной центральной гиповентиляции в Якутии / С. Н. Алексеева, В. Б. Егорова, Г. Б. Ушакова [и другие] // Якутский медицинский журнал. — 2020. — N 1 (69). — С. 121-124. – DOI: 10.25789/YMJ.2020.69.31.
DOI: 10.25789/YMJ.2020.69.31
Количество страниц: 4 с.
An incidence of fetal alcohol syndrome (FAS) in maternity, child hospitals and orphanages of St.Petersburg and Republic Sakha Yakutia was investigated. 39 children with FAS from St.Petersburg and 39 ones from Republic Sakha Yakutia were detailed evaluated by means of the standard neurological assessment, Developmental Scales, anthropometry, The 4-Digit Diagnostic Code and MRI and Cranial Ultrasound. Evenian and sakha children demonstrated significant decrease of palpebral fissure length compared with the europeoid babies up to 3 years old. Sakha children had most often ptosis, epicanthus and dilatation of subarachnoidal spaces than St.Petersburg babies neglected to ethnic features. There were not differences between babies subgroups in Physical and Neurodevelopment
Пальчик, А. Б. Этнические особенности манифестации фетального алкогольного синдрома / А. Б. Пальчик, С. В. Легонькова, Г. И. Софронова // Якутский медицинский журнал. – 2011. – N 2 (34). – С. 22-25.
Количество страниц: 4 с.
- Прикладные науки. Медицина. Ветеринария. Техника. Сельское хозяйство > Медицина > Патология. Клиническая медицина > Наркология,
- Прикладные науки. Медицина. Ветеринария. Техника. Сельское хозяйство > Медицина > Гинекология. Женские болезни. Акушерство,
- НАУКА ЯКУТИИ > ПРИКЛАДНЫЕ НАУКИ. МЕДИЦИНА. ТЕХНИКА. СЕЛЬСКОЕ ХОЗЯЙСТВО > Медицина > Патология. Клиническая медицина > Наркология,
- НАУКА ЯКУТИИ > ПРИКЛАДНЫЕ НАУКИ. МЕДИЦИНА. ТЕХНИКА. СЕЛЬСКОЕ ХОЗЯЙСТВО > Медицина > Гинекология. Женские болезни. Акушерство.
Ohildren with FAS from Republic Sakha Yakutia were detailed by means of 4-digit Diagnostic Code, routine and age-dependent developmental neurological assessment, brain ultrasonography, magnetic resonance imaging (MRI). The FAS rate varies from 0,88 to 2,10 per1000 live births. Peculiarities of dysmorhial and structural cerebral abnormalities depending on ethnicity of the child are identified. Decrease of palpebral fissure lenght could be an early indicator of mental retardation
Софронова, Г. И. Особенности манифестации фетального алкогольного синдрома в Республике Саха (Якутия) / Г. И. Софронова, А. Б. Пальчик // Якутский медицинский журнал. — 2013. — N 1 (41). — С. 16-19.
Количество страниц: 4 с.
The article presents the clinical case of management of a child with a genetic metabolic disease until setting a correct diagnosis propionic acidemia. The full – term child aged 11 days had developed metabolic crisis, which was taken as an expression of neonatal pathology, such as neonatal jaundice, perinatal CNS lesion. On a background of detoxification the patient had the clinical positive dynamics, but a bright period lasted only two weeks. Due to a main disease the child had secondary immunodeficiency, which resulted in recurrent pneumonias. The patient was examined in three ways: changes of peripheral blood – leukopenia, thrombocytopenia, anemia; neurological symptoms – soporous condition, lethargy, refusal of meals, oppression of all reflexes, muscular hypotension; in view of anamnesis, impossibility of a comparison all the clinical symptoms to one diagnosis tap genetic research. The lack of the methodology of tandem mass spectrometry extended the time of correct diagnosis and timely treatment.
Клинический случай пропионовой ацидемии / С. Н. Алексеева, А. Л. Сухомясова, Г. И. Софронова, З. П. Андросова, С. А. Кондратьева, Е. Е. Гуринова, П. В. Павлова // Якутский медицинский журнал. — 2018. — N 3 (63). — С. 99-102 – DO: 10.25789/YMJ.2018.63.32 .
DOI: 10.25789/YMJ.2018.63.32