A5112234553- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Biochemical and Molecular Research
- Carbohydrate Chemistry and Synthesis
- Erythrocyte Function and Pathophysiology
- Nutrition, Genetics, and Disease
- Cellular transport and secretion
- Glycogen Storage Diseases and Myoclonus
- Glycosylation and Glycoproteins Research
- Pediatric Hepatobiliary Diseases and Treatments
- Calcium signaling and nucleotide metabolism
- Peroxisome Proliferator-Activated Receptors
- Pancreatic function and diabetes
- Digestive system and related health
- Medical and Biological Sciences
- Metabolomics and Mass Spectrometry Studies
- Amino Acid Enzymes and Metabolism
- Drug Transport and Resistance Mechanisms
- Bone fractures and treatments
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- Studies on Chitinases and Chitosanases
- Systemic Sclerosis and Related Diseases
- Biomedical Research and Pathophysiology
- Obsessive-Compulsive Spectrum Disorders
Irkutsk Regional Clinical Hospital
2024
Research Centre for Medical Genetics
2020
Regional Children's Clinical Hospital No. 1
2018
First Pavlov State Medical University of St. Petersburg
1997
Saratov State Medical University
1997
Late-onset Pompe-disease (LOPD) is an adult form of the glycogenosis type II. The age onset ranges from 1 till 75 y.o. and older. The diagnosis LOPD based on presence trunk limb-girdle muscle weakness with hyperlordosis, respiratory failure, ocasionally accompanied by cardiomyopathy, persistent mild elevation creatine kinase, dry blood spot test enzyme activity and DNA-analysis GAA-gene. Early recognition beginning replacement therapy important in preventing severe motor deficit, patient...
Введение. Дефицит лизосомной кислой липазы (ДЛКЛ) - континуум аутосомно-рецессивно наследуемых фенотипов, обусловленных генетическими дефектами фермента (ЛКЛ), играющего ключевую роль в обмене липидов. ЛКЛ кодируется геном LIPA, наиболее распространенный патогенный вариант которого -c.894G>A является причиной заболевания более чем половине случаев. Точная частота ДЛКЛ неизвестна, России она предположительно составляет от 1:150 000 до 1:100 новорожденных. Цель: биохимический скрининг на...
INTRODUCTION: The most optimal method of correcting congenital cataract is implantation intraocular lenses (IOL). Despite the achievements in surgery, correction children associated with a number difficulties due to anatomical and physiological peculiarities organ vision. AIM: Analysis long-term results IOL implantations performed Yakutsk Republican Ophthalmological Clinical Hospital (YROCH). MATERIALS AND METHODS: In 2021, 8 (10 eyes) were operated on YROCH. patients (4 traumatic (1 eye)...
В статье обобщен опыт помощи пациентам с редкими заболеваниями, история развития «орфанной» медицины, проводится обзор зарубежных стратегий и основополагающих документов, формирующих современные модели оказания орфанными заболеваниями. Освещаются проблемы медицинской данной группе пациентов в Российской Федерации, том числе рамках программ «14 высокозатратных нозологий» «17 (17 жизнеугрожающих хронических прогрессирующих редких (орфанных) заболеваний), анализируются механизмы финансирования...
The authors present a case report of DIDMOAD syndrome in girl accompanied by the early development severe lesion urinary system. molecular-genetic analysis Wfs1 gene revealed thhec.1009A>C,p.T337P missense mutation exon 8 homozygous state. brother patient developed diabetes mellitus that for first time manifested itself at age 6 years. study boy undertaken bearing mind his genetically aggravated anamnesis analogous mutation; this finding maybe used to predict further disease.
Carney complex is a rare autosomal dominant condition that manifests itself as combination of lentiginosis, heart and skin myxomas, primary pigmented micronodular adrenocortical hyperplasia with ACTH-independent hypercorticism, calcifying Sertoli cell testicular tumours, schwannomas, thyroid breast other neoplasms. A total 400 patients presenting this pathology has thus far been described worldwide. 75% the were found to have mutations in gene encoding for regulatory alpha-subunit...
Niemann-pick disease type C is a rare autosomal recessive neurodegenerative disorder, the real incidence of which has been underestimated because not specific clinical symptoms. The symptoms NP-C are highly variable with different onset terms manifestations from fetal and neonatal period to adulthood. In recent years there growing use biomarkers as selective screening panel genetic tests contributed earlier detection in patients. article contains most important their combinations, well an...
В статье обобщены данные по клинико-экономической оценке программ массового неонатального скрининга на наследственные болезни обмена веществ (НБО). Обсуждаются разные подходы к их эффективности, влияние внедрения расширенного методом тандемной масс-спектрометрии бюджет. The article summarizes the data on clinical and economic evaluation of newborn screening programs for inborn errors metabolism (IEM). Various approaches to effectiveness programs, impact expanding by MS/MS budget are discussed.
Дислипидемия - одно из наиболее распространенных метаболических нарушений, доминирующий фактор риска заболеваний сердечно-сосудистой системы. Своевременная диагностика и корректировка липидного профиля могут заметно снизить заболеваемость смертность от сердечно-сосудистых заболеваний. Обширная гетерогенная группа приводит к устойчивым изменениям профиля. Предлагаемый обзор включает в себя описание метаболизма липидов, молекулярных основ клинических характеристик первичных моногенных...
Diversity of monogenic hereditary diseases (MHD) in the population eight districts Republic Tatarstan (RT) is reviewed. The number investigation was 264,310 people. analysis performed for entire region, and separately representatives titular nation — Tatars. Tatar (209,265 people) represented by three basic ethnographic groups Kazan Tatars (Arsky, Athninsky, Kukmorsky districts) Mishars (Buinsky, Drozhzhanovsky) Teptyars (Aktanysh, Muslumovsky Menzelinsky). Nosological spectrum MHD 256...
HDSL is a rare late-onset dominant disorder produced by CSF1R mutations. Rapidly progressing frontal lobe dementia main feature. First Russian case in 41-yеar-old female diagnosed targeted NGS an example of method value.