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http://dx.doi.org/10.3343/alm.2023.43.2.214 | DOI Listing |
Acta Neuropathol Commun
January 2025
Institute of Cancer Research, London, UK.
Histone mutations (H3 K27M, H3 G34R/V) are molecular features defining subtypes of paediatric-type diffuse high-grade gliomas (HGG) (diffuse midline glioma (DMG), H3 K27-altered, diffuse hemispheric glioma (DHG), H3 G34-mutant). The WHO classification recognises in exceptional cases, these mutations co-occur. We report one such case of a 2-year-old female presenting with neurological symptoms; MRI imaging identified a brainstem lesion which was biopsied.
View Article and Find Full Text PDFJ Genet Couns
February 2025
Interventional Endoscopy and Pancreatic Diseases, Section of Digestive Diseases, Yale University School of Medicine, New Haven, Connecticut, USA.
Surveillance of individuals at high-risk of pancreatic cancer using CAPS criteria and other expert consensus guidelines may result in earlier pancreatic cancer detection in some cases; therefore, clinicians are responsible for appropriately identifying and referring these individuals to appropriate high-risk pancreas cancer screening programs. This study aimed at assessing the perspective, knowledge, and clinical practices of cancer genetic counselors surveyed nationwide towards identification of individuals at high-risk of pancreatic cancer and utilization of high-risk pancreatic cancer screening programs. One hundred and eighty-nine genetic counselors who listed "Cancer" as their specialty on the NSGC website responded to the survey, which consisted of multiple practice-based, knowledge-based, and clinical vignette-based questions.
View Article and Find Full Text PDFJMIR Res Protoc
January 2025
Brain Injury Research Center, Department of Rehabilitation and Human Performance, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Background: Alzheimer disease and related dementias (ADRDs) are increasingly common progressive conditions that have a substantial impact on individuals and their primary care partners-together described as a dyad. The stressors experienced by dyad members at around the time of ADRD diagnosis commonly produce clinically elevated emotional distress (ie, depression and anxiety symptoms), which can become chronic and negatively impact health, relationships, and the overall quality of life. Dyads commonly report unmet needs for early support to address these challenges early after diagnosis.
View Article and Find Full Text PDFBMC Nutr
January 2025
Telethon Kids Institute, North Entrance Perth Children's Hospital, 15 Hospital Ave, Nedlands, WA, 6009, Australia.
Background: Urine is an attractive biospecimen for nutritional status and population health surveys. It is an excellent non-invasive alternative to blood for appropriate biomarkers in young children and is suitable for home-based collection, enabling representative collections across a population. However, the bulk of literature in this population is restricted to collection in primary care settings.
View Article and Find Full Text PDFBMC Med Inform Decis Mak
January 2025
Department of Psychiatry, University of Ottawa, Ottawa, Canada.
Background: The 'Ottawa Depression Algorithm' is an evidence-based online tool developed to support primary care professionals care for adults with depression. Uptake of such tools require provider behaviour change. Identifying issues which may impact use of an innovation in routine practice (i.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!