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Methylmalonic acidaemia masquerading as a neurodegenerative disorder.
BMJ Case Rep
January 2025
Paediatrics, King George's Medical College, Lucknow, Uttar Pradesh, India.
We present the case of a toddler displaying neuroregression post-acute gastroenteritis, initially suggesting neurodegenerative disorders. Further investigations showed atypical results-neuroimaging was inconsistent with suspected disorders, while fundus evaluation, evoked potentials and nerve conduction velocity were normal. Specialised tests using gas chromatography mass spectrometry and tandem mass spectrometry identified methylmalonic acidaemia (MMA), implicating abnormal neurometabolism.
View Article and Find Full Text PDFUltrasound-guided release of carpal tunnel syndrome - anterograde technique.
Hand Surg Rehabil
January 2025
Unidade do Punho e Mão, Hospital Cuf Tejo, Lisboa, Portugal; Centre Hospitalier Régional Universitaire de Nîmes, Department of Orthopaedic Surgery, Nîmes, France; Orthopaedic Group Ormeau Pyrénées, Polyclinique de L'Ormeau - ELSAN, Tarbes, France.
Compression of the median nerve in the carpal tunnel is a frequent pathology with severe functional impact. An ultrasound-guided technique was developed to preserve structures, diminish scar fibrosis and enable fast return to full activity. Its advantages are safety and low additional cost.
View Article and Find Full Text PDFDuration of infectious virus shedding of SARS-CoV-2 Omicron variant among immunocompromised patients.
J Infect Chemother
January 2025
Disease Control and Prevention Center, National Center for Global Health and Medicine, 1-21-1 Toyama, Shinjuku-ku, Tokyo 162-8655, Japan.
Objective: The duration of viral shedding and criteria for de-isolation in the hospital among immunocompromised patients with coronavirus disease 2019 (COVID-19) remain unclear. This study aimed to evaluate viral shedding duration in immunocompromised patients infected with the Omicron variant of severe acute respiratory syndrome coronavirus 2.
Methods: A prospective cohort study was performed at 2 tertiary medical centers in Japan during the Omicron epidemic waves from July 2022 to January 2023.
Targeting CD84 protein on myeloid-derived suppressor cells as a novel immunotherapy in solid tumors.
Comput Methods Programs Biomed
January 2025
Department of Regenerative Medicine, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran; Experimental Cancer Medicine, Institution for Laboratory Medicine, Karolinska Institute, 141-83 Stockholm, Sweden. Electronic address:
Background And Objective: Myeloid-derived suppressor cells (MDSCs) are a crucial and diverse group of cells found in the tumor microenvironment (TME) that facilitate progression, invasion, and metastasis within solid tumors. CD84, a homophilic adhesion molecule expressed on MDSCs, plays a critical role in their accumulation and function within the TME. This study aims to investigate the protein-protein interactions of CD84 using molecular dynamics simulations and to explore potential therapeutic strategies targeting these interactions.
View Article and Find Full Text PDFBRCA functional domains associated with high risk of multiple primary tumors and domain-related sensitivity to olaparib: the Prometheus Study.
ESMO Open
January 2025
Department of Biomedicine, Neuroscience and Advanced Diagnostics (Bind.), Section of Medical Oncology, University of Palermo, Palermo, Italy.
Background: Germline pathogenic variants (gPVs) in the breast cancer susceptibility gene 1/2 (BRCA1/2) genes confer high-penetrance susceptibility to breast cancer (BC) and ovarian cancer (OC). Although most female BRCA carriers develop only a single BRCA-associated tumor in their lifetime, a smaller subpopulation is diagnosed with multiple primary tumors (MPTs). The genetic factors influencing this risk remain unclear.
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