Publications by authors named "M Iu Nefedova"
We present a family with two male siblings diagnosed with a newly described digenic myopathy, involving likely pathogenic loss-of-function variants in the SRPK3 and TTN genes: hemizygous p.(Pro68ArgfsTer55) and heterozygous p.(Trp14174Ter), respectively.
View Article and Find Full Text PDFNew Recessive Dystrophic Epidermolysis Bullosa intermediate variant resulting from alternative splicing of exon 19 and truncation in FN III-like domain of type VII collagen.
Aleksandra A Martynova Alexey A Kubanov Nadezhda A Evtushenko Anastasiya V Kosykh Nikolay V Kondratyev Maria A Nefedova
Br J Dermatol
October 2024
Article Synopsis
- - Myelodysplastic syndrome (MDS) is a disease from blood stem cells that leads to ineffective blood cell production and a higher risk of developing acute myeloid leukemia (AML).
- - MDS arises from various genetic mutations, resulting in diverse genetic profiles among patients, and specific genetic changes have been linked to its development.
- - The article discusses a clinical case where MDS progressed to AML, highlighting two cell lines with distinct characteristics and two specific mutations in the relevant gene.
Article Synopsis
- Calvarial doughnut lesions (CDL) with bone fragility is a rare genetic disorder marked by low bone mineral density and specific lesions in cranial bones, often leading to fractures.
- This condition is caused by mutations in the gene that produces sphingomyelin synthase 2, which is vital for bone mineralization.
- Recent studies have identified a common mutation (c.148C>T) associated with CDL in multiple cases, revealing significant variability in symptoms among affected individuals, underscoring the importance of genetic testing for accurate diagnosis.
Background: Viral hepatitis is a major burden for the healthcare system worldwide. Up to date, a comprehensive analysis of the prevalence of viral hepatitis in Kazakhstan and Central Asia has not been carried out yet. Our epidemiological study aimed at investigating the frequency and spread of viral hepatitis B, C, and D depending on age and sex in Kazakhstan (5-year period).
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