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Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.
PLoS One
January 2025
Henan Key Laboratory of Fertility Protection and Aristogenesis, Luohe Central Hospital, Luohe, Henan Province, People's Republic of China.
Purpose: To evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) and compare its effectiveness in screening for chromosomal aneuploidies with that of NIPT.
Methods: Screening results, confirmatory invasive testing results, and follow-up data from pregnant women who underwent either NIPT (6792 cases) or NIPT-Plus (5237 cases) testing at Luohe Central Hospital, China, from January 2019 to June 2023 were collected. The positive predictive value (PPV), sensitivity, specificity, and other indicators for different types of chromosomal abnormalities in NIPT/NIPT-plus screening were calculated.
A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region.
Front Genet
January 2025
The Affiliated Women's and Children's Hospital of Chengdu Medical College, Sichuan Provincial Woman's and Children's Hospital, Chengdu, China.
Introduction: Usually, patients with sY84 or sY86 deficiency present with azoospermia, but recent studies have shown that some males with partial AZFa deletions, including sY84 or sY86, exhibit normal fertility. Here, we reported a rare case of AZF deletion in a family, where both father and son exhibited a deletion at the sY86 site in the AZFa region and a partial deletion in the AZFc region.
Methods And Results: Detection was performed using classical multiplex polymerase chain reaction and the "Male AZF Full-region Detection" Panel, revealing specific deletions in AZFa: Yq11.
Rapid change in red cell blood group systems after the main Out of Africa of Homo sapiens.
Sci Rep
January 2025
Aix Marseille Univ, CNRS, EFS, ADES, Marseille, France.
Despite the advances in paleogenomics, red cell blood group systems in ancient human populations remain scarcely known. Pioneer attempts showed that Neandertal and Denisova, two archaic hominid populations inhabiting Eurasia, expressed blood groups currently found in sub-Saharans and a rare "rhesus", part of which is found in Oceanians. Herein we fully pictured the blood group genetic diversity of 22 Homo sapiens and 14 Neandertals from Eurasia living between 120,000 and 20,000 years before present (yBP).
View Article and Find Full Text PDFKDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary.
Kidney Int
February 2025
Institute of Physiology, University of Zurich, Zurich, Switzerland; Division of Nephrology, Cliniques universitaires Saint-Luc, UCLouvain Medical School, Brussels, Belgium. Electronic address:
The Kidney Disease: Improving Global Outcomes (KDIGO) 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the first KDIGO guideline on this subject. Its scope includes nomenclature, diagnosis, prognosis, and prevalence; kidney manifestations; chronic kidney disease (CKD) management and progression, kidney failure, and kidney replacement therapy; therapies to delay progression of kidney disease; polycystic liver disease; intracranial aneurysms and other extrarenal manifestations; lifestyle and psychosocial aspects; pregnancy and reproductive issues; pediatric issues; and approaches to the management of people with ADPKD. The guideline has been developed with patient partners, clinicians, and researchers around the world, with the goal to generate a useful resource for healthcare providers and patients by providing actionable recommendations.
View Article and Find Full Text PDFMRSA septic arthritis of the pubic symphysis post vaginal delivery: A case report and literature review.
Int J Surg Case Rep
January 2025
Department of Surgery, Orthopaedic Division, Sultan Qaboos University Hospital, Muscat, Oman.
Introduction And Importance: Septic arthritis of the pubic symphysis is a rare postpartum infection characterized by severe pelvic pain, fever, and elevated inflammatory markers. It is often underdiagnosed due to its rarity and nonspecific symptoms. It is commonly caused by Staphylococcus aureus, with methicillin-resistant Staphylococcus aureus (MRSA) septic being a rare but concerning pathogen.
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