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Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Alzheimers Res Ther
January 2025
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Via Cherasco 15, Turin, 10126, Italy.
Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. While early-onset AD has well-established genetic determinants, the genetic basis for late-onset AD remains less clear. This study investigates a large Italian family with late-onset autosomal dominant AD, identifying a novel rare missense variant in GRIN2C gene associated with the disease, and evaluates the functional impact of this variant.
View Article and Find Full Text PDFPsychological impact and coping mechanisms among sudanese medical students: a study on anxiety, depression, behavioral, and cognitive changes post COVID-19 lockdown and ongoing conflict.
BMC Psychol
January 2025
Doud Research Group, Khartoum, Sudan.
Introduction: Mental health is crucial for overcoming obstacles, completing tasks, and contributing to society. Mental, social, and cognitive healths are included. In demanding fields like medicine, academic pressure can cause exhaustion, poor performance, and behavioral changes.
View Article and Find Full Text PDFBlood from septic patients with necrotising soft tissue infection treated with hyperbaric oxygen reveal different gene expression patterns compared to standard treatment.
BMC Med Genomics
January 2025
Department of Anaesthesiology, Centre of Head and Orthopedics, Copenhagen University Hospital, Rigshospitalet, Inge Lehmanns Vej 6, Copenhagen, 2100, Denmark.
Background: Sepsis and shock are common complications of necrotising soft tissue infections (NSTI). Sepsis encompasses different endotypes that are associated with specific immune responses. Hyperbaric oxygen (HBO) treatment activates the cells oxygen sensing mechanisms that are interlinked with inflammatory pathways.
View Article and Find Full Text PDF95-95-95 HIV indicators among children younger than 15 years in South Africa: results from the 2017 national HIV prevalence, incidence, behaviour, and communication survey.
AIDS Res Ther
January 2025
Human Sciences Research Council, Pretoria, South Africa.
Background: Early detection and initiation of care is crucial to the survival and long-term well-being of children living with HIV (CLHIV). However, there remain challenges regarding early testing and linking of CLHIV for early treatment. This study examines the progress made towards achieving the 95-95-95 HIV indicators and associated factors among CLHIV < 15 years in South Africa.
View Article and Find Full Text PDFService delivery and the role of clinical pharmacists in UK primary care for older people, including people with dementia: a scoping review.
BMC Prim Care
January 2025
Centre for Psychiatry and Mental Health, Wolfson Institute of Population Health, QMUL, London, UK.
Objective: As populations age globally, there is increasing prevalence of multiple long-term conditions, such as dementia, leading to many challenges. The burden on health and care services, economic pressures, and the necessity for innovative policies to better support older people and people with dementia becomes paramount. This review explores how clinical pharmacists working in UK primary care support older people and people with dementia.
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