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Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.
Mol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Incidence and Risk Factors for Varicella-Zoster Virus-Associated Central Nervous System Infections: A Nationwide Swedish Retrospective Case-Control Study.
J Med Virol
February 2025
Department of Infectious Diseases, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
The determinants of varicella-zoster virus (VZV)-associated central nervous system (CNS) infection have not been fully elucidated. This study aimed to investigate the incidence and risk factors, including immunosuppression, for different manifestations of VZV-associated CNS infection. Patient registers were used to include adults diagnosed with VZV-associated CNS infections between 2010 and 2019 in Sweden.
View Article and Find Full Text PDFEvaluating solar power plant sites using integrated GIS and MCDM methods: a case study in Kermanshah Province.
Sci Rep
January 2025
Department of Pathology, Microbiology, and Immunology, School of Veterinary Medicine, University of California, Davis, CA, 95616, USA.
This study utilizes an integrated Geographic Information System (GIS)-based Multi-Criteria Decision-Making (MCDM) approach to perform Solar Power Plant Site Selection (SPPSS) in Kermanshah Province, Iran. It introduces a novel group weighting method, the Dempster-based Best-Worst Method (DBWM), which combines weights vectors derived from experts' opinions. The study also conducts a comprehensive sensitivity analysis comparing four GIS-based models for SPPSS.
View Article and Find Full Text PDFAxillary Lymph Node Metastasis in Papillary Thyroid Carcinoma at Early Perioperative Period: Report of a Case and Review of the Literature.
Acta Med Indones
October 2024
Akdeniz University, Faculty of Medicine, Department of General Surgery, 07070, Antalya, Turkey.
A 36-year-old woman with a history of neck swelling was diagnosed with papillary thyroid carcinoma, a common but typically slow-growing thyroid cancer with a good prognosis. Despite frequent lymph node metastasis, mortality rates are low. This cancer can rarely spread to unusual areas like the axillary region.
View Article and Find Full Text PDFSubendocardial ischemia: does CMD really exist?
Cardiovasc Revasc Med
January 2025
Weatherhead PET Imaging Center, Division of Cardiology, Department of Medicine, McGovern Medical School at UTHealth and Memorial Hermann Hospital, Houston, TX, United States of America.
Patients with angina but without obstructive epicardial coronary disease still require a specific mechanistic diagnosis to enable targeted treatment. The overarching term "coronary microvascular dysfunction" (CMD) has been applied broadly - but is it correct? We present a series of case examples culminating a systematic exploration of our large clinical database to distinguish among four categories of coronary pathophysiology. First, by far the largest group of "no stenosis angina" patients exhibits subendocardial ischemia during intact flow through diffuse epicardial disease during dipyridamole vasodilator stress.
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