Balkan J Med Genet
December 2024
The association between small for gestational age birth and chromosomal abnormalities identified through karyotyping is well-established. Notably, advancements in cytogenetic techniques have shifted from routine karyotyping to the recommended use of microarray technology. This transition allows higher resolution and the detection of sub-microscopic copy number variants (CNVs).
View Article and Find Full Text PDFThe hypoxia-inducible factor-1 alpha (HIF-1 alpha) is a major regulator of adaptive response to hypoxia, common in patients with severe coronavirus disease 2019 (COVID-19). In addition, HIF-1 alpha regulates the expression of the most important proteins necessary for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection of cells. The study included 129 hospitalized COVID-19 patients.
View Article and Find Full Text PDFDespite advances in cancer treatment, pancreatic cancer (PC) remains a disease with high mortality rates and poor survival outcomes. The B7 homolog 3 (B7-H3) checkpoint molecule is overexpressed among many malignant tumors, including PC, with low or absent expression in healthy tissues. By modulating various immunological and nonimmunological molecular mechanisms, B7-H3 may influence the progression of PC.
View Article and Find Full Text PDFObjective: Fetuses with abnormal karyotypes often exhibit distinctive ultrasonographic markers, including major anomalies and "soft" markers, indicating potential chromosomal issues. A crucial consideration arises when a single fetal anomaly is detected, raising the question of whether karyotyping is warranted, given the associated procedural risks. Our objective was to establish correlations between single fetal anomalies identified through ultrasound and chromosomal abnormalities.
View Article and Find Full Text PDFIntroduction: The relationship between Systemic lupus erythematosus (SLE) and Epstein-Barr virus (EBV) infection has been suggested for decades, but the underlying mechanism of the EBV influence on SLE development remains to be elucidated.
Methods: The goals of this research, which included 103 SLE patients and 99 controls, were to investigate the association of the parameters of EBV infection and SLE, to explore whether pooled demographic, clinical and EBV markers achieve a more significant effect on SLE development than each of them individually, and to evaluate EBV nuclear antigen 1 (EBNA1) and latent membrane protein 1 (LMP1) gene polymorphisms in isolates from SLE patients.
Results: Comprehensive results related to serological, molecular and sequence markers of EBV infection in SLE patients demonstrated even 24 times higher possibility of having SLE if there is the presence of anti-EBV-EA(D) (early antigen) IgG antibodies (OR=24.