Количество страниц: 4 с.
Autosomal dominant spinocerebellar ataxias (AD SCA) can occur with a wide variety of non-cerebellar symptoms, including movement disorders. In fact, movement disorders are common in many different subtypes of SCA, and they may be present, dominant, or even an isolated feature of the disease. In this article we describe 9 clinical cases of spinocerebellar ataxia type 1, the clinical picture of which includes cervical dystonia with laterocollis. In all cases, a mutation in the ATXN1 gene was detected.
Варламова, М. А. Спиноцеребеллярная атаксия 1-го типа с цервикальной дистонией: клинический полиморфизм или сочетание двух заболеваний? / М. А. Варламова, Т. К. Давыдова, А. Е. Адамова ; Якутский научный центр комплексных медицинских проблем // Якутский медицинский журнал. - 2024. - N 2 (86).- С. 102-105. - DOI: 10.25789/YMJ.2024.86.24
DOI: 10.25789/YMJ.2024.86.24
Количество страниц: 5 с.
The purpose of the report was to present our own observation of clinical cases with Ullrich congenital muscular dystrophy in two unrelated Yakut families. The cause of the disease in the first family was two mutations in a compound heterozygous state: c.1561C>T and c.2329T>C in the COL6A2 gene; in the second family, the c.2329T>C mutation in the COL6A2 gene in a homozygous state. Despite the rarity of the disease, neurologists and geneticists, when identifying symptoms of myopathy, delayed motor development, and the presence of hypermobility in the distal joints, contrasting with retractions of the proximal and axial joints, must be alert to Ullrich CMD. Next-generation sequencing techniques make it easier to diagnose the disease.
Врожденная миодистрофия Ульриха: описание клинических случаев / П. И. Голикова, Г. Д. Москвитин, А. Л. Сухомясова [и др.] ; Медицинский институт Северо-Восточного федерального университета им. М. К. Аммосова, Медико-генетический центр Республиканской больницы 1-Национального центра медицины // Якутский медицинский журнал. - 2024. - N 2 (86).- С. 98-102. - DOI: 10.25789/YMJ.2024.86.23
DOI: 10.25789/YMJ.2024.86.23
Количество страниц: 5 с.
Stereotypies, along with tics, are the most common hyperkineses, especially among children, but there is limited research on this movement disorder in adults. The aim of the study is to assess the prevalence and nature of stereotypies among adults without neurological and intellectual disorders and to determine its relationship with tics and associated psychiatric symptoms. The method of online survey and face-to-face examination revealed a high prevalence of stereotypies and tics in adults and their high association with anxiety and obsessive-compulsive symptoms.
Таппахов, А. А. Распространенность стереотипий среди взрослых без неврологических расстройств и интеллектуального снижения / А. А. Таппахов, О. С. Нижегородова ; Северо-Восточный федеральный университет им. М. К. Аммосова, Медицинский институт // Якутский медицинский журнал. - 2024. - N 2 (86). - С. 13-17. - DOI: 10.25789/YMJ.2024.86.03
DOI: 10.25789/YMJ.2024.86.03
Количество страниц: 5 с.
For the first time, the diagnosis of MELAS syndrome in a Yakut family was genetically verified using mitochondrial genome sequencing. The substitution of adenine for guanine at position 3243 (m 3243A>G) in the gene tRNA (MT-TL1) was confirmed. The level of the mutant allele (heteroplasmia) in the patient was 38.5%, while in the mother only 9.8%, which is explained by the selection of rapidly dividing blood cells with a low level of mutant alleles during life. It has been shown that the phenomenon of mtDNA heteroplasmy forms a significant clinical heterogeneity in the manifestation of the disease and demonstrates the complexity of diagnosing subclinical forms of MELAS
Гетероплазмия мутации m.3243A>G митохондриальной ДНК в якутской семье с MELAS синдромом: связь с фенотипическими проявлениями / Р. Н. Захарова, Д. Г. Тихонов, М. В. Голубенко, Т. М. Сивцева, С. И. Семенов, А. А. Таппахов, Т. Я. Николаева, Т. М. Климова, В. Л. Осаковский, С. А. Федорова // Якутский медицинский журнал. - 2024. - N 1 (85). - С. 121-125. - DOI: 10.25789/ҮШ.2024.85.30
DOI: 10.25789/ҮШ.2024.85.30
Количество страниц: 6 с.
- Прикладные науки. Медицина. Ветеринария. Техника. Сельское хозяйство > Медицина > Гигиена. Санитария,
- 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.
Applied bioethics is а field of knowledge, the subject of which is practical moral problems Ethical principles are discussed as the basis for applied bioethical research related to neurodegenerative diseases in Yakutia. Applying the basic four ethical principles as starting points can lead to different answers regarding specific bioethical problems, in our case the moral problems of providing medical care to patients with neurodegenerative diseases
Кононова, С. К. Биоэтические принципы и прикладная биоэтика в области изучения проблем нейродегенеративных заболеваний в Якутии / С. К. Кононова // Якутский медицинский журнал. - 2024. - N 1 (85). - С. 92-97. - DOI: 10.25789/ҮШ.2024.85.23
DOI: 10.25789/ҮШ.2024.85.23
Количество страниц: 4 с.
Ап analysis of data on suicides in the Arctic zone of the Republic of Sakha (Yakutia) from 2000 to 2021 is presented, as well as their relationship with the prevalence of alcoholism and mental disorders. Official data show that during this period, 8,160 people, mostly men of working age, committed suicide in Yakutia. The overall suicide rate in the region has decreased, but is still significantly higher than the Russian average. Alcohol abuse is considered a leading cause of suicide, especially among indigenous people. There is a direct correlation between the prevalence of alcohol dependence and suicide, as well as the incidence of alcoholism and mental disorders. However, the connection between these indicators and mortality from suicide in the Arctic zone has not been established. The problem is caused, among other things, by insufficient diagnosis of mental and addictive disorders due to a shortage of qualified doctors in the region. The authors of the article come to the conclusion that it is necessary to strengthen the prevention of alcoholism and suicidal behavior, as well as improve the quality and availability of psychiatric care in the Arctic zone
Дуткин, М. П. Проблема суицидального поведения и синдрома алкогольной зависимости в Арктической зоне Республики Саха (Якутия) / М. П. Дуткин, С. С. Слепцов, С. С. Слепцова // Якутский медицинский журнал. - 2024. - N 1 (85). - С. 74-77. - DOI: 10.25789/ҮШ.2024.85.19
DOI: 10.25789/ҮШ.2024.85.19
Количество страниц: 8 с.
Suicide prevention is a topical issue in modern healthcare. There are northern regions in the Russian Federation where the suicide rate exceeds Russian indicators by 2.8-3 times. The purpose of this study is a comparative analysis of the suicidal index (SI) in the Arctic zone of the Republic of Sakha (Yakutia) and among American Indians - residents of Alaska, to identify the main factor contributing to the widespread suicidal behavior among residents of the Far North. Materials and methods of research. A comparative analysis of the materials of the organizational and methodological department of the State Budgetary Institution of the RS(Ya) “Yakut Neuropsychiatric Dispensary”, as well as data from the territorial body of the Federal State Statistics Service for the Republic of Sakha (Yakutia) on the mortality of the population of the Arctic zone of the RS(Y) from suicide and statistical data on suicides of the Center for Disease Prevention and Control of the USA - CDC (Centers for Disease Control and Prevention) for 2018 and 2021 . It was found that from 2018 to 2021, the SI increased among residents of the Arctic zone of the Republic of Sakha (Yakutia) by 34 %. For American Indians living in Alaska, the SI increased by 23 % over the same period of time. The SI for 2018 for residents of the Arctic zone of the Republic of Yakutia is 2.6 times higher than for residents of the Russian Federation. The suicide index (SI) for 2018 among American Indians - residents of Alaska is 1.6 times higher than that of residents of the United States. The SI for 2021 for residents of the Arctic zone, the RS(Ya) is 4 times higher than for residents of the Russian Federation. The SI for 2021 the American Indian population of Alaska is 2 times higher than that of the residents of the United States. It was established that there are two regions in the world with extremely high suicide rates - Greenland and Chukotka Autonomous District in the Russian Federation. Both regions differ from other parts of the world in that they are located at the highest geographical latitudes. These are territories with the most extreme living conditions. The Arctic zone of the RS(Ya) belongs to the coldest regions of the Russian Federation. Remoteness from the central regions and extreme living and working conditions lead to a shortage of personnel in the Arctic zone of the RS(Ya) of psychiatrists. Consequently, the extremely high suicide rate in the Arctic zone of the RS(Ya) is influenced by the difficulty of accessing necessary psychiatric care and the lack of preventive mental health work.
Дуткин, М. П. Суициды в Арктической зоне Республики Саха (Якутия) и среди американских индейцев - жителей Аляски / М. П. Дуткин ; Северо-Восточный федеральный университет им. М. К. Аммосова, Медицинский институт // Вестник Северо-Восточного федерального университета им. М. К. Аммосова. Серия "Медицинские науки". - 2024. - N 2 (35). - C. 76-83. - DOI: 10.25587/2587-5590-2024-2-76-83
DOI: 10.25587/2587-5590-2024-2-76-83
Ответственность: Соломонова Н. Г.
Издательство: Издательство ДНиСПО МО РС(Я)
Год выпуска: 2000
Количество страниц: 110 с.
Алексеев, В.
П. Атлас: География вилюйского энцефаломиелита = Athlas: Geography of viliusk encephalomyelitis / В. П. Алексеев, В. Г. Кривошапкин, В. Н. Макаров ; под редакцией Н. Г. Соломонова ; Институт здоровья АН РС.- Якутск : Издательство ДНиСПО МО РС(Я), 2000. - 108 с.
Количество страниц: 9 с.
The article describes a case of the development of a severe form of bronchopulmonary dysplasia in a premature newborn. Globally, about 15 million children are born prematurely every year. On average, it is every tenth child. In Russia, more than 110 thousand children are born prematurely every year, which is about 5.7 % of all newborns per year. [8] This confirms the relevance of the chosen topic. The ABS test falls under the category of express studies, since its parameters change rapidly with any shifts in the patient’s condition (respiratory indicators, body temperature, physical activity, kidney function, etc.). [9] The study of blood pH revealed subcompensated metabolic acidosis, confirming the literature data. The gas composition of the blood varied from hypocapnia to hypercapnia, which indicated a severe degree of respiratory failure with a picture of hypoventilation of the lungs in premature newborns. The revealed decrease in electrolytes was associated with diuretic and steroid therapy used for the patients with bronchopulmonary dysplasia. Due to prematurity, compensatory mechanisms were insufficient to maintain homeostatic parameters (pH, gas and electrolyte composition of blood). When conducting oxygen therapy with a ventilator, it is necessary to be guided by the dynamics of ABS tests to calibrate the parameters of the device and adjust infusion therapy.
Динамика изменения параметров кислотно-основного состояния как основной метод контроля лечения при бронхолегочной дисплазии (на примере клинического случая) / Алексеева С. Н., Макарова А. В., Капитонова А. И. [и др.] ; Северо-Восточный федеральный университет им. М. К. Аммосова, Медицинский институт // Вестник Северо-Восточного федерального университета им. М. К. Аммосова. Серия "Медицинские науки". - 2024. - N 1 (34). - C. 5-13. - DOI: 10.25587/2587-5590-2024-1-5-13
DOI: 10.25587/2587-5590-2024-1-5-13
Год выпуска: 2014
Количество страниц: 176 с.