Publications by authors named "M Hyblova"
Article Synopsis
- * A study involving 207 newly diagnosed GCT patients linked higher expression levels of GSTM1 to poorer treatment outcomes, particularly in terms of relapse-free survival, especially in tumor types like seminoma and choriocarcinoma.
- * The findings indicate that GSTM1 levels are a potential indicator of treatment resistance in GCTs and may help predict patient outcomes independently of other established risk factors.
Article Synopsis
- A study compared the ABC and ACMG variant classification systems using 10 challenging cases, involving 43 European clinical laboratories, to determine how each system influences variant reporting and clinical utility.
- Although the ACMG system is primarily for assessing pathogenicity rather than reporting, it still affects reporting in many labs, leading to some noted differences in how variants are classified and communicated.
- The comparison revealed that ABC-based classifications tend to be clearer and more adaptable to clinical questions, allowing for more context-appropriate reporting of variants, unlike ACMG which can mislabel variants in certain clinical scenarios.
Large-scale copy number variants (CNVs) are structural alterations in the genome that involve the duplication or deletion of DNA segments, contributing to genetic diversity and playing a crucial role in the evolution and development of various diseases and disorders, as they can lead to the dosage imbalance of one or more genes. Massively parallel sequencing (MPS) has revolutionized the field of genetic analysis and contributed significantly to routine clinical diagnosis and screening. It offers a precise method for detecting CNVs with exceptional accuracy.
View Article and Find Full Text PDFThe discovery of cell-free fetal DNA fragments in the maternal plasma initiated a novel testing method in prenatal care, called non-invasive prenatal screening (NIPS). One of the limitations of NIPS is the necessity for a sufficient proportion of fetal fragments in the analyzed circulating DNA mixture (fetal fraction), otherwise, the sample is uninterpretable. We present the effect of gestational age, maternal body mass index (BMI), and maternal age on the fetal fraction (FF) of the sample.
View Article and Find Full Text PDFBackground: Common variable immunodeficiency (CVID) is a heterogeneous group of immune disorders. The patients are classified according to the clinical manifestation with the infection-only phenotype (CVID) and CVID with immune dysregulation (CVID).
Methods: We performed a retrospective clinical analysis of 64 CVID patients (34 males, 53.