bims-tyki2d 2026-01-04 papers

Issue of 2026–01–04
three papers selected by
Zoya Panahloo, UCB

Orphanet J Rare Dis. 2025 Dec 31.

Online education for rare genetic diseases: a systematic review.

Pinar Ozmizrak, Luigi Boccuto, Tracy Brock Lowe, Stephanie Trammel, Jane DeLuca.

INTRODUCTION: Rare genetic diseases are, collectively, not in fact rare. However, educational opportunities focused on rare genetic disease can be limited. The Internet has increased the availability of education related to rare genetic disease and is accessible to a diverse range of people who seek out such information, including healthcare professionals, researchers, students, patients, and the public.
PURPOSE: To assess the potential educational outreach of the Internet, this systematic literature review will appraise the landscape of what education for rare genetic disease is available online, describing its form, subject, and intended audience.
METHODS: This systematic review encompassed all results across 20 science, healthcare, and education databases published up to September 1, 2023. The search criteria were specific to online education for rare genetic diseases.
RESULTS: From 1663 total results, after applying exclusion criteria, 58 publications remained, ranging from 2002 to 2023. Although the amount of research presenting rare genetic disease education online was limited, the forms of education and its target learners were varied. Studies could have multiple target learners and healthcare professionals (68.97% of papers) and healthcare consumers (62.07% of papers) represented the most common of 5 different learners. 22 different specific conditions or categories of disease were the focus of 56.90% papers, with the remainder being general subjects like 'genetic testing' or 'rare diseases' overall. Modes of delivery were mutually exclusive per paper, with websites (29.31% of papers) and web applications/modules (24.14% of papers) being the most common of 7 different forms. The highest representation for author institutions was the USA (58.62% of papers) out of 33 countries total. The broad spread of learners, subjects, and delivery forms demonstrates the potential for online education as a vehicle for advancing the reach of rare disease education.
CONCLUSIONS: The greater accessibility afforded through online information creates an avenue for further availability of high-quality education on rare genetic diseases.

Keywords: Genetics; Healthcare; Online education; Open educational resources; Rare disease

DOI: https://doi.org/10.1186/s13023-025-03809-x

Diagnostics (Basel). 2025 Dec 06. pii: 3102. [Epub ahead of print]15(24):

Diagnostic Value of Muscle Biopsy for the Evaluation of Adult Myopathy in Daily Clinical Practice.

Vera E A Kleinveld, Julia Wanschitz, Anna Hotter, Johannes A Mayr, Romana Höftberger, Wolfgang N Löscher, Corinne G C Horlings.

Background/Objectives: Muscle biopsy is traditionally considered a cornerstone in the diagnosis of myopathies. Advances in the clinical and laboratory evaluation of myopathies warrant re-evaluation of the diagnostic yield. Methods: Results of muscle biopsies performed between 1 January 2009 and 31 January 2023 in patients with symptoms indicative of myopathy were evaluated and set in relation to clinical diagnosis, based on phenotype, electromyography, laboratory results, and available antibody testing. Biopsies were classified as diagnostic (changed or specified clinical diagnosis), confirmative (same as clinical diagnosis), or non-informative (normal/unspecific findings). Genetic testing followed muscle biopsy at later follow-up, upon availability of genetic testing. Results: One-hundred sixty-two patients were included and divided into five groups based on clinical phenotype: inflammatory myopathy, n = 54; mitochondrial myopathy, n = 33; muscular dystrophy, n = 23; metabolic myopathy, n = 3; and non-specific phenotype (isolated hyperCKemia/myalgia), n = 49. Muscle biopsy was diagnostic in 21.0%, confirmative in 38.3% and non-informative in 40.7% of patients. The percentage of diagnostic biopsies was 66.7% in metabolic myopathy, 54.5% in mitochondrial myopathy, 17.4% in muscular dystrophy, 14.8% in inflammatory myopathy, and 4.1% in the non-specific phenotype. Conclusions: Overall, in our cohort, muscle biopsy yielded a new diagnosis or additional information in 21.0% of patients. In the majority, a diagnosis was established based on clinical and laboratory evaluation, and muscle biopsy was either confirmative or non-informative. We propose muscle biopsy in cases where serological and genetic tests are inconclusive, in the presence of specific signs indicative of myopathy, or when in-tissue genetic testing is necessary to obtain a comprehensive diagnosis.

Keywords: diagnosis; histopathology; muscle biopsy; myopathy; myositis

DOI: https://doi.org/10.3390/diagnostics15243102