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Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent.
JAMA Ophthalmol
January 2025
Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Importance: Primary open-angle glaucoma (POAG) polygenic risk scores (PRSs) continue to be evaluated in primarily European-ancestry populations despite higher prevalence and worse outcomes in African-ancestry populations.
Objective: To evaluate how established POAG PRSs perform in African-ancestry samples from the Genetics in Glaucoma Patients of African Descent (GIGA), Genetics of Glaucoma in Individuals of African Descent (GGLAD), and Million Veteran Program (MVP) datasets and compare these with European-ancestry samples.
Design, Setting, And Participants: This was a multicenter, cross-sectional study of POAG cases and controls from Tanzania, South Africa, Nigeria, Ghana, and the US.
Multiple enchondromas in Ollier's disease: A case report.
Radiol Case Rep
November 2024
Nulcear Medicine Unit, Department of Diagnostic and Interventional Radiology, Queen Elizabeth Hospital, Hong Kong SAR, China.
Article Synopsis
- Ollier's disease is a rare, nonhereditary condition caused by mutations in IDH1 and IDH2 genes, usually showing symptoms in early life and characterized by multiple enchondromas on one side of the body.
- Diagnosis involves clinical evaluations and imaging techniques like radiology, and it's crucial to monitor the condition due to the risk of enchondromas turning into malignant chondrosarcomas.
- The case report focuses on a 25-year-old male with swellings in specific areas, highlighting the importance of bone scans and plain X-rays in managing his multiple enchondromas.
Clinical and radiological response of Maffucci related enchondromas to mutant IDH1 inhibitor Ivosidenib.
Bone
November 2024
Department of Neurosurgery, Lariboisière Hospital, APHP.Nord, France; Frontlab, CNRS UMR 7225, INSERM U1127, Paris Brain Institute (ICM), Paris, France; Université Paris Cité, Paris, France.
Article Synopsis
- - Ollier Disease (OD) and Maffucci syndrome (MS) are rare bone disorders linked to genetic mutations and affect bone growth, with a prevalence of 1 in 100,000 people.
- - Ivosidenib, a treatment for certain cancers, was used in the first reported case of a patient with MS, resulting in tumor size stabilization and notable improvement in the patient's painful enchondromas.
- - This case suggests potential benefits of IDH inhibitors for OD and MS patients, highlighting the need for further research on their long-term effects in these conditions.
Antibiotic Resistance of Bacteria Isolated from Clinical Samples and Organs of Rescued Loggerhead Sea Turtles () in Southern Italy.
Animals (Basel)
July 2024
Istituto Zooprofilattico Sperimentale del Mezzogiorno, Via Salute 2, 80055 Portici, Italy.
Article Synopsis
- Antimicrobial resistance (AMR) poses a threat to various species, including wildlife, with increasing human activity exacerbating the issue in wild animals like sea turtles.
- A study analyzed antibiotic resistance in bacteria from loggerhead sea turtles at a rescue center in Southern Italy over nine years, revealing high resistance rates to several antibiotics, particularly among Gram-negative bacteria.
- The findings underscore the necessity for better antimicrobial management and monitoring in wildlife populations to protect both endangered species and public health.
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