HLA-B*37:108 and -B*38:108, two novel alleles detected in Russian individuals by next generation sequencing.
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http://dx.doi.org/10.1111/tan.15249 | DOI Listing |
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Bochkov Research Centre for Medical Genetics, Moscow, Russia.
A fifth world case of autosomal recessive Siddiqi syndrome (SIDDIS) related to ene is presented. In a consanguineous Lezgin (a Dagestan ethnicity) family, there were two affected brothers aged 28 yrs (proband, personally examined) and 32 yrs. Whole-exome sequencing followed by familial Sanger sequencing detected a novel missence variant c.
View Article and Find Full Text PDFZh Nevrol Psikhiatr Im S S Korsakova
December 2024
Siberian State Medical University, Tomsk, Russia.
In a number of causes of Parkinson's disease (PD), occupation is periodically mentioned as a possible risk factor. However, a look at the complex impact of external factors on people of certain professions and the expansion of the area of risk factors in a rapidly changing world leads to the emergence of new studies. There is an assumption that the risk of developing PD is increased in doctors due to long-term exposure to stress.
View Article and Find Full Text PDFZh Nevrol Psikhiatr Im S S Korsakova
December 2024
Federal Center of Brain Research and Neurotechnologies, Moscow, Russia.
Objective: Study of neuroimaging changes according to MRI morphometry and their comparison with the structure and severity of cognitive impairment (CI) in patients with Alzheimer's disease (AD) and primary open-angle glaucoma (POAG).
Material And Methods: The study involved 90 patients who were divided into two equal groups of 45 people and who early had diagnosis of AD (group 1; median age - 71 [66; 77] years) and POAG (group 2; median age - 68 [64; 77] years). 71] years).
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Republican Scientific and Practical Center of Neurology and Neurosurgery, Minsk, Belarus.
Objective: To analyze the results of nocturnal breathing parameters during sleep based on nocturnal pulse oximetry and to study of characteristics of external respiration in genetically confirmed patients with dystrophic myotonia (DM).
Material And Methods: The subjects of the study were patients with genetically confirmed DM types 1 and 2 who were hospitalized in the neurological departments of the Republican Scientific and Practical Center for Neurology and Neurosurgery. The clinical picture of the disease, comorbidities, sleep questionnaires, laboratory tests, overnight pulse oximetry and spirometry were performed and analyzed.
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Clinical Hospital of St. Luka, St. Petersburg, Russia.
Objective: To analyze the efficacy and tolerability of aceclofenac in the treatment of patients with acute non-specific musculoskeletal pain in the lower back (ANBP) compared with other NSAIDs (dexketoprofen, nimesulide and lornoxicam), as well as to assess the impact of NSAIDs therapy on the relative risk of recurrence and chronicity of this pathology.
Material And Methods: The study involved 80 patients (47 women and 33 men), average age 52.6 [47.
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