Publications by authors named "D A Guseva"

oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the gene, accounting for approximately 40-50% of all cases of the disease in European populations. Common hypomorphic variants in the gene could lead to a mild form of albinism in a compound heterozygous state with a pathogenic variant.

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A case of DEE98, a rare developmental and epileptic encephalopathy related to previously reported the missense mutation p.Arg908Gln in the gene, is described. A girl examined first time in 11 months had microcephaly, severe mental and motor delay, strabismus, spastic paraparesis and pachypolymicrogyria on brain MRI that is atypical for DEE98.

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Article Synopsis
  • Noonan syndrome is a group of related diseases consisting of 16 conditions caused by mutations in 15 different genes, with Noonan syndrome type 1 (NSML) being the most common.
  • In a study of 456 unrelated individuals, the disease cause was identified in 206 cases, with 107 cases linked to mutations in a specific gene, including three new variants.
  • Notable mutations prevalent in Russian patients accounted for over 38% of cases, and the most common symptoms included facial abnormalities and heart issues, although fewer patients than in past studies showed growth delays.
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Context: The proportion of the elderly population is on the rise across the globe, and with it the prevalence of age-related neurodegenerative diseases. The gut microbiota, whose composition is highly regulated by dietary intake, has emerged as an exciting research field in neurology due to its pivotal role in modulating brain functions via the gut-brain axis.

Objectives: We aimed at conducting a systematic review of preclinical and clinical studies investigating the effects of dietary interventions on cognitive ageing in conjunction with changes in gut microbiota composition and functionality.

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Alagille syndrome (ALGS) is a multisystem condition characterized by cholestasis and bile duct paucity on liver biopsy and variable involvement of the heart, skeleton, eyes, kidneys, and face and caused by pathogenic variants in the or gene. The variable expressivity of the clinical phenotype and the lack of genotype-phenotype correlations lead to significant diagnostic difficulties. Here we present an analysis of 18 patients with cholestasis who were diagnosed with ALGS.

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