The most severe form of male infertility is idiopathic non-obstructive azoospermia (NOA), a complete sperm absence in the ejaculate. We performed exome sequencing in the Croatian infertile brothers with NOA and found a variant in DMRT1 (Doublesex and mab-3 related transcription factor 1) gene that was further assessed by the EMSA assay and molecular dynamic simulations. We additionally screened for DMRT1 mutations in 1940 infertile men diagnosed with spermatogenic failure, 644 normozoospermic controls, and 105 females with primary ovarian insufficiency (POI) recruited to the GEnetics of Male INfertility Initiative (GEMINI) or Estonian Andrology (ESTAND) cohorts.
View Article and Find Full Text PDFAppl Immunohistochem Mol Morphol
October 2024
Cervical cancer remains one of the leading causes of death from malignant diseases in women worldwide. Primary and secondary prevention have led to better outcomes in developed countries, whereas in developing countries, cervical cancer continues to be responsible for an unjustifiably high number of fatalities. The discovery of new tumor biomarkers can lead to earlier diagnosis, better therapeutic decisions, and improved treatment methods.
View Article and Find Full Text PDFThis narrative review describes the state of the art in the management of anastomotic leakage in ovarian cancer. Multiple surgical procedures, including bowel resection, are often required to achieve "optimal" cytoreduction in locally advanced ovarian cancer. Intestinal anastomosis is currently the most common way to restore bowel continuity.
View Article and Find Full Text PDFThe operating room is the environment where harm to the patient is most likely. Robotic surgery was listed as one of the top 10 health hazards as late as 2020. Taking inspiration from other fields of application, such as aeronautics, checklists have been increasingly implemented in medical practice over the years, becoming essential components of the operating theatre.
View Article and Find Full Text PDFWe studied 115 cases of EEC diagnosed on hysterectomy specimens. Double immunohistochemical staining (D2-40/CD31) was performed in all 115 cases to show LVI and BVI on the same slide. MELF pattern invasion was present in 24/115 (21%) cases.
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