Publications by authors named "Gjorgji Bozhinovski"
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.
Introduction: Factors contributing to recurrent pregnancy loss (RPL) in more than half of the cases are still unknown. The incidence and societal impact of this condition requires urgent elucidation of the mechanisms behind it, which could aid in significant improvement of clinical management.
Materials And Methods: Using a highly efficient in-solution digestion method and label-free data-independent LC-MS/MS acquisition with ion mobility, we performed comparative proteomics analysis of the decidua tissues from 19 RPL patients and 10 controls.
Background: The fetal monogenic causes of early pregnancy losses (EPLs) are mainly unknown, with only a few articles on the subject published. In our previous study of EPLs using whole-exome sequencing analysis, we confirmed a genetic diagnosis of -related Joubert syndrome (JS) in three EPLs from two couples and identified a relatively common allele among our population (NM_001384732.1:c.
View Article and Find Full Text PDFCirculating Variants of SARS-CoV-2 Among Macedonian COVID - 19 Patients in the First Year of Pandemic.
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
July 2023
Genomic epidemiology has proven to be a useful tool for investigating pandemic outbreaks and tracking pathogen spread and evolution. This study describes the circulation of SARS-CoV-2 strains in N. Macedonia during a period of one year, encompassing three waves of the COVID-19 pandemic.
View Article and Find Full Text PDFArticle Synopsis
- - Neurofibromatosis type 1 (NF1) is a genetic disorder that causes skin changes, tumors, and issues with the nervous system, linked to over 3,100 reported mutations in the NF1 gene.
- - A study in North Macedonia analyzed 30 patients suspected of having NF1, identifying 28 unique mutations, 10 of which were new to science, and found connections between gene variants and cognitive impairment.
- - This research highlights the importance of genetic testing for accurate diagnosis in NF1, especially for younger individuals, and adds valuable data to the understanding of NF1 mutations globally.