Publications by authors named "D A Plaseska-Karanfilska"
Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed.
Methods: We explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer diagnosis, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 223,316 females without breast cancer diagnosis from the UK Biobank.
Male Infertility associated with a Novel Mutation in Carney Complex.
Clin Med Insights Endocrinol Diabetes
October 2024
Article Synopsis
- - Carney Complex (CNC) is a rare genetic syndrome causing spotty skin pigmentation and multiple tumors, including heart tumors (myxomas) and specific testicular tumors, and is usually inherited in an autosomal dominant manner.
- - A 30-year-old male patient with CNC experienced severe infertility issues connected to both oligoasthenozoospermia and a rare testicular tumor (LCCSCT), along with recurring cardiac myxomas.
- - Molecular testing revealed a novel gene mutation that may lead to male infertility in CNC patients; highlighting the need for early diagnosis and management of infertility in affected males.
Article Synopsis
- * This review evaluates existing comparative proteomics studies on samples from women with RPL, focusing on analyzed materials, biomarker candidates, and pathways linked to the condition.
- * It highlights the most identified biomarkers, discusses bioinformatics data, and explores future therapeutic strategies to address RPL more effectively.
Objectives: To highlight the worldwide presence of -related disorder (-RD), discuss its penetrance, and provide the first haplotype analysis.
Methods: Data on patients worldwide were collected, including demographics, genotype, family history, and clinical status. For haplotype analysis, polymorphisms of short tandem repeats in 3 distinct families with p.
Article Synopsis
- Early pregnancy loss (EPL) occurs in about 15% of recognized pregnancies, and around 50% of the cases don't have a clearly defined cause, termed idiopathic.
- The study investigated the association of genetic variants in particular genes among women in North Macedonia with EPL, compared to a control group of women without pregnancy loss.
- Findings indicated a significant prevalence of heterozygotes for certain genetic haplotypes in women with EPL, supporting previous research on the connection between these haplotypes and pregnancy loss and demonstrating a cost-effective genotyping method.