Publications by authors named "Sebastian Skoczylas"

Article Synopsis
  • Transient neonatal diabetes mellitus (TNDM) is a rare and genetically varied condition that causes high blood sugar in newborns but may resolve early in life, potentially returning later.
  • A case study discusses a baby boy treated with insulin and glucose monitoring, achieving normal blood sugar levels by 2 months, despite not identifying common genetic mutations linked to TNDM.
  • The report emphasizes the challenges in diagnosing TNDM and suggests that using continuous insulin and glucose monitoring can be effective and safe in managing the condition.
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Variations in several nuclear genes predisposing humans to the development of MODY diabetes have been very well characterized by modern genetic diagnostics. However, recent reports indicate that variants in the mtDNA genome may also be associated with the diabetic phenotype. As relatively little research has addressed the entire mitochondrial genome in this regard, the aim of the present study is to evaluate the genetic variations present in mtDNA among individuals susceptible to MODY diabetes.

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Introduction: In the past few years, the advancement of 16S rRNA metagenomic analysis sequencing has enabled assessing the impact of gut microbiota on the development of skin disease. Alopecia areata (AA) is a nonscarring hair loss disorder with an unknown etiopathogenesis, however, it is hypothesised that a combination of genetic and environmental factors might be involved. Although numerous studies have shown that the microbiome plays a key role at the beginning of skin diseases, the link between AA and gut dysbiosis remains unclear.

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