Publications by authors named "A Ficek"
Article Synopsis
- - X-linked myotubular myopathy (XLMTM) is a rare genetic condition that mainly affects newborns and infants, leading to high mortality due to severe muscle weakness and breathing issues, though some patients may have milder cases and survive into adulthood with noticeable facial differences.
- - The study examined genetic variations in XLMTM patients to find connections between their specific gene mutations and the severity of their symptoms, studying a cohort of 414 patients and using facial recognition technology (Face2Gene) to analyze distinguishable facial traits between patients and healthy individuals.
- - Results indicated severe symptoms were linked to certain serious genetic mutations, while milder cases were associated with less severe mutations; additionally, Face2Gene successfully identified differences
Severe congenital T-lymphocytopenia may affect the outcome of neonatal intensive care.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
September 2024
Aim: Circular DNA segments TREC (T-cell receptor excision circles) formed during T-lymphocyte maturation in the thymus, are a sensitive marker of thymic lymphocyte production in a broader manner. Quantification using qPCR is proposed as a surrogate marker of T cell malfunction in various primary and secondary conditions in a non-SCID selected risk newborn population.
Methods: We collected 207 dry blood spot samples during the years 2015-2018, from newly admitted risk newborns.
This study aimed to establish physiological TREC/KREC values in a healthy population of different ages to create cut-offs and analyze pediatric patients with various inborn errors of immunity. Dry blood spots and DNA samples purified from whole blood were used for TREC/KREC quantification using real-time PCR. Observed difference (p < 0.
View Article and Find Full Text PDFCoronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerges to scientific research and monitoring of wastewaters to predict the spread of the virus in the community. Our study investigated the COVID-19 disease in Bratislava, based on wastewater monitoring from September 2020 until March 2021. Samples were analyzed from two wastewater treatment plants of the city with reaching 0.
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