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Background: When haemolytic anaemia, thrombocytopenia and renal failure are present, a thrombotic microangiopathic (TMA) condition should be suspected. We describe the various differential diagnoses of primary TMA syndromes, their clinical findings, clinical workup and treatment.
Case Presentation: A previously healthy man in his fifties was hospitalised with anaemia, thrombocytopenia, bilirubinaemia and acute renal failure.
Improving estimation efficiency for survival data analysis by integrating a coarsened time-to-event outcome from an external study.
Biometrics
January 2025
Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, United States.
In the era of big data, increasing availability of data makes combining different data sources to obtain more accurate estimations a popular topic. However, the development of data integration is often hindered by the heterogeneity in data forms across studies. In this paper, we focus on a case in survival analysis where we have primary study data with a continuous time-to-event outcome and complete covariate measurements, while the data from an external study contain an outcome observed at regular intervals, and only a subset of covariates is measured.
View Article and Find Full Text PDFA Large Thoracolumbosacral Meningomyelocele From Northern Tanzania: A Case Report.
Case Rep Surg
January 2025
Department of General Surgery, Kilimanjaro Christian Medical Centre, Moshi PO Box 3010, Tanzania.
Meningomyelocele and meningocele are types of neural tube defects, which are congenital abnormalities of the spine and spinal cord. These conditions are frequently encountered by pediatric neurosurgeons worldwide and represent a significant public health concern due to their association with a range of collateral conditions, other malformations, and increased morbidity. While many cases can be identified during prenatal ultrasound screenings, this is often challenging in resource-limited settings with poor health-seeking behaviors.
View Article and Find Full Text PDFPavement policies: unraveling the Norwegian ban on skateboarding.
Front Sports Act Living
January 2025
Department of Sports, Physical Education and Outdoor Studies, Faculty of Humanities, Sports and Educational Sciences, University College of South-Eastern Norway, Bø, Norway.
This paper investigates the historical prohibition of skateboarding in Norway from 1977 to 1989, a unique instance of such a comprehensive ban globally. The study aims to understand the circumstances leading to this ban and the rationale behind it. Two primary explanations emerged around the ban: one from a bureaucratic perspective citing risk management, and the other from skateboarders seeing it as a regulation of their counterculture.
View Article and Find Full Text PDFEfficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.
Mol Genet Metab Rep
March 2025
Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
Background: The efficacy and safety of avalglucosidase alfa for Pompe disease (PD) have been demonstrated in a global Phase 3 trial (COMET) in patients with late-onset PD (LOPD) and a global Phase 2 trial (Mini-COMET) in patients with infantile-onset PD (IOPD). This case series examines the individual results of three Japanese patients enrolled in these trials.
Methods: Case reports were assembled from data collected in the COMET and Mini-COMET trials.
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