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The European Certificate in Medical Genetics and Genomics (ECMGG) is the official knowledge-based, end-of-specialist training examination designed and delivered by the Union Européenne des Médecins Spécialistes - Section of Medical Genetics (UEMS-SMG). The examination is a joint venture of the SMG, the European Society of Human Genetics (ESHG), and the European Board of Medical Genetics (EBMG). Sittings have taken place in 2019 and 2021-24, and it is gaining in reputation as a high-quality, high-standard assessment. In 2024 the ECMGG underwent satisfactory appraisal by the UEMS-Council of European Specialist Medical Assessment (CESMA). This paper describes the development of the ECMGG, its structure, outcomes, and its meaning for the standards and harmonisation of the specialty of Medical Genetics throughout Europe.
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http://dx.doi.org/10.1038/s41431-025-01889-8 | DOI Listing |
Genet Med
September 2025
Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.
Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.
Methods: We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing.
Muscle Nerve
September 2025
Department of Neurology, Seoul Hospital, Ewha Womans University College of Medicine, Seoul, South Korea.
Introduction/aims: There is a lack of up-to-date information on the burden of motor neuron diseases (MNDs) in the United States (US). This study aimed to estimate trends in the prevalence, incidence, mortality, and disability-adjusted life years (DALYs) for MNDs in the US from 1990 to 2021.
Methods: We performed a secondary analysis of MNDs in the US using estimates of prevalence, incidence, and mortality obtained from analyses of the Global Burden of Disease 2021 dataset.
Retin Cases Brief Rep
September 2025
Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, University of California of Los Angeles, David Geffen School of Medicine at UCLA, Los Angeles, California, United States.
Purpose: To describe a case of recalcitrant bilateral peripapillary pachychoroid syndrome (PPS) treated with high-dose (HD) intravitreal aflibercept injections.
Methods: Medical and imaging records were retrospectively evaluated. Multimodal imaging included ultra-widefield indocyanine green and fluorescein angiography and fundus autofluorescence.
Front Immunol
September 2025
Guangxi Key Laboratory of AIDS Prevention and Treatment & School of Public Health, Guangxi Medical University, Nanning, Guangxi, China.
Background: People living with HIV(PLWH) are a high-risk population for cancer. We conducted a pioneering study on the gut microbiota of PLWH with various types of cancer, revealing key microbiota.
Methods: We collected stool samples from 54 PLWH who have cancer (PLWH-C), including Kaposi's sarcoma (KS, n=7), lymphoma (L, n=22), lung cancer (LC, n=12), and colorectal cancer (CRC, n=13), 55 PLWH who do not have cancer (PLWH-NC), and 49 people living without HIV (Ctrl).
Front Immunol
September 2025
Department of Pathological Sciences, School of Veterinary Medicine, Louisiana State University, Baton Rouge, LA, United States.
Oncolytic virotherapy (OVT) has emerged as a promising and innovative cancer treatment strategy that harnesses engineered viruses to selectively infect, replicate within, and destroys malignant cells while sparing healthy tissues. Beyond direct oncolysis, oncolytic viruses (OVs) exploit tumor-specific metabolic, antiviral, and immunological vulnerabilities to reshape the tumor microenvironment (TME) and initiate systemic antitumor immunity. Despite promising results from preclinical and clinical studies, several barriers, including inefficient intratumoral virus delivery, immune clearance, and tumor heterogeneity, continue to limit the therapeutic advantages of OVT as a standalone modality and hindered its clinical success.
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