Количество страниц: 4 с.
Особенности цитокинового статуса и интратекальный синтез олиго-клональных IGG у больных вилюйским энцефаломиелитом и рассеянным склерозом / Т. М. Сивцева, Р. И. Чемезова, В. А. Владимирцев [и другие ] // Якутский медицинский журнал. – 2011. – N 4 (36). – С. 27-29.
Количество страниц: 4 с.
Кудрина, П. И. Клиническая характеристика дисциркуляторной энцефалопатии у лиц пожилого и старческого возраста в зависимости от региона проживания / П. И. Кудрина, А. Л. Арьев // Якутский медицинский журнал. – 2011. – N 3 (35). – С. 43-46.
Количество страниц: 4 с.
100 villous chorions at 9-12 weeks of pregnancy were studied in order to identify the relationship between the indicators of progesterone synthetic activity of the fetoplacental complex being formed and the nature of clinical and echographic manifestations of the threatened miscarriage in groups of women with different course of cytomegalovirus infection (CMV) infection. It was identified a significant dependence of the frequency of the threatened miscarriage and its clinical and echographic manifestations on the exacerbation of CMV infection in the first trimester of pregnancy, which was combined with low values of progesterone and 3β-hydroxy-5-pregnen-20-one-dehydrogenase in the villous chorion compared to the group with a latent course of infection
Никитина, М. А. Апатия как немоторный симптом болезни Паркинсона и болезни Гентингтона / М. А. Никитина, Н. Г. Бразовская, Н. Г. Жукова [и другие] // Якутский медицинский журнал. — 2020. — N 2 (70). — С. 24-27. – DOI: 10.25789/YMJ.2020.70.07.
DOI: 10.25789/YMJ.2020.70.07
Количество страниц: 4 с.
We determined the level of brain neurotrophic factor BDNF in plasma of adolescents aged 12-17 with syncopal conditions. Lower BDNF levels in plasma were found in a large number of adolescents examined. Taking into account the significant role of BDNF in the modulation of neuroplastic processes, the revealed decrease in its level can probably be regarded as a metabolic marker of the risk of neurodegenerative processes appearance and presence in brain tissue of adolescents with recurrent syncope. This assumption can be confirmed by further studies. Conclusions: syncopal conditions in adolescents are associated with a lower content of brain neurotrophic factor BDNF. In adolescents with syncopal conditions, there are more individuals with slightly or significantly lower BDNF compared to the group without syncope
Ахмельдинова, Ю. Р. Уровень мозгового нейротрофического фактора BDNF у подростков с синкопальными состояния / Ю. Р. Ахмельдинова, Л. С. Эверт, Т. В. Потупчик // Якутский медицинский журнал. — 2020. — N 2 (70). — С. 92-95. – DOI: 10.25789/YMJ.2020.70.27.
DOI: 10.25789/YMJ.2020.70.27
Количество страниц: 4 с.
The prevalence of nucleotide sequence variants of genes collagen COL1A1 rs1800012 IVS1 c.2046 G> T, and receptors of calcitonin CALCR rs1801197 c.1377 T> C and the intracellular vitamin D VDR rs731236 c.1056 T> C in healthy teenagers of the Primorsky Territory was studied in correlation with physiological parameters of the musculoskeletal system status. Genetic testing made it possible to identify the prevalence of “unfavorable” alleles and their combinations in the studied genes, regulating calcium metabolism in teenagers, and to determine the relationship between genotypes and the presence of fractures and impaired posture, that allowed distinguishing a group of subjects with a high risk of developing MSS diseases
Шаймурзин, М. Р. Инициальные клинические проявления и преморбидные особенности различных фенотипических вариантов (II, III) спинальных мышечных атрофий / М. Р. Шаймурзин // Якутский медицинский журнал. — 2020. — N 1 (69). — С. 24-26. – DOI: 10.25789/YMJ.2020.69.05.
DOI: 10.25789/YMJ.2020.69.05
Количество страниц: 6 с.
A literature review of the disease spinocerebellar ataxia type 17 (SCA 17) was carried out. The clinical observation of SCA 17 was presented considering the absence of inverse correlation between a degree of expansion and age of manifestation of SCA 17 symptoms, as well as direct relationship between the degree of expansion of repeats and the severity of clinical manifestations. We also revealed differences in the clinical picture of SCA 17 in this case and SCA 1, which is widespread in Yakutia
Особенности течения спиноцеребеллярной атаксии 17-го типа в Якутии / М. А. Варламова, Т. К. Давыдова, П. С. Назарова [и другие] // Якутский медицинский журнал. — 2020. — N 4 (72). — С. 125-130.
DOI: 10.25789/YMJ.2020.72.31
Количество страниц: 4 с.
In the article the literature data on MSA, the clinical features are studied and modern diagnostic criteria for this disease are provided. We introduce our own observations of the patients with various forms of MSA who underwent inpatient treatment at the Center for Neurodegenerative Diseases of the Yakutsk Scientific Center for Complex Medical Problems in 2019-2020. These clinical cases have been studied with the aim to draw attention of general practitioners and neurologists to the disease onset among elderly patients and to the syndrome of autonomic insufficiency, which may be the initial manifestation of MSA, since this rare disease has a rapidly progressive course and leads to mortaltiy. In turn, the early diagnosis of the disease contributes to timely correction of autonomic and motor disorders and ultimately increases quality and lifetime
Трудности диагностики мультисистемной атрофии на ранних стадиях (клинические наблюдения) / А. Е. Адамова, А. А. Таппахов, Т. К. Давыдова [и другие] // Якутский медицинский журнал. — 2020. — N 4 (72). — С. 119-122
DOI: 10.25789/YMJ.2020.72.29
Количество страниц: 6 с.
- Математика. Естественные науки > Общая биология. Антропология. Вирусология. Микробиология,
- Прикладные науки. Медицина. Ветеринария. Техника. Сельское хозяйство > Медицина > Патология. Клиническая медицина > Неврология,
- НАУКА ЯКУТИИ > ПРИКЛАДНЫЕ НАУКИ. МЕДИЦИНА. ТЕХНИКА. СЕЛЬСКОЕ ХОЗЯЙСТВО > Медицина > Патология. Клиническая медицина > Неврология,
- НАУКА ЯКУТИИ > МАТЕМАТИКА. ЕСТЕСТВЕННЫЕ НАУКИ > Общая биология. Антропология. Вирусология. Микробиология.
This article considers the use of microRNAs as a possible biomarker of epilepsy. The presented studies have shown that microRNAs can be involved in the process of epileptogenesis by regulating the inflammatory response, apoptosis of neurons, and transcription factors involved in cell differentiation. Biological fluids (blood and CSF) of patients with epilepsy showed differences in the number of circulating microRNAs, which may allow further use of microRNAs as a diagnostic biomarker. Recent discoveries providethe sufficient source of new microRNA targets, but there are still significant problems of studying their role in pathogenesis and the possibility of their application in clinical practice
Биомаркеры эпилепсии: микроРНК / М. Р. Сапронова, К. Д. Яковлева, А. А. Усольцева [и другие] // Якутский медицинский журнал. — 2020. — N 4 (72). — С. 106-111
DOI: 10.25789/YMJ.2020.72.26
Количество страниц: 4 с.
Cerebral amyloid angiopathy (CAA) is a disease of the small cerebral vessels and it mostly affects older people. CAA is characterized by progressive deposition of amyloid-beta in small arteries and arteries of medium caliber, as well as in the capillaries. Sporadic amyloid angiopathy is a cause of recurrent cerebral hemorrhage and cognitive impairment in the elderly. The latest scientific researches and a case report of a patient who suffered from cerebral amyloid angiopathy were used in order to prepare this article. The diagnosis and treatment of CAA are considered
Клиническое описание пациента с церебральной амилоидной ангиопатией / А. А. Таппахов, Т. Е. Попова, М. Н. Петрова [и другие] // Якутский медицинский журнал. — 2020. — N 1 (69). — С. 42-45
DOI: 10.25789/YMJ.2020.69.10
Количество страниц: 8 с.
The article presents the results of a clinical and genetic study of a Yakut family with hereditary spastic paraplegia (HSP). Patients with clinically diagnosed HSP and healthy family members were studied. The disease is clinically characterized as a progressive spastic paraplegia of the lower extremities concomitant peripheral neuropathy in advanced case. The methods of exome sequencing of the entire genome, molecular modeling of dynamin-2 and experimental reproduction of key elements of the HSP pathogenesis have been applied. Genetic analysis revealed a novel missense c.2155C> T, p.R719W mutation in the highly conserved GTP-effector domain of the dynamin-2 gene (DNM2). In experiments on HeLa cells, it was shown that mutant dynamin-2 affected endocytosis process. In-silico modeling determined that the identified mutation is located in the DNM2 bundle-signaling element and potentially disrupts the assembly and functional properties of the protein. Testing of this mutation in other Yakut families with HSP showed a negative result, which once again confirms the genetic heterogeneity of this pathology
Аутосомно-доминантная спастическая параплегия в четырех поколениях якутской семьи, вызываемая мутацией в динамине-2 / Т. М. Сивцева, Л. Г. Гольдфарб, Т. К. Давыдова [и другие] // Якутский медицинский журнал. — 2020. — N 1 (69). — С. 6-12.
DOI: 10.25789/YMJ.2020.69.01