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Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
Clin Genet
December 2024
Imagine Institute, Paris, France.
Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS.
View Article and Find Full Text PDFOccupational-related risk of testing SARS-CoV-2 positive for publicly employed medical doctors in Sweden: A nationwide cohort study.
Scand J Public Health
December 2024
Department of Clinical Microbiology, Umeå University, Sweden.
Aims: Doctors have an increased risk of SARS-CoV-2 infection caused by exposure to contagious patients. We aimed to identify which clinical specialities among medical doctors had the highest occupation-related risk of testing positive for SARS-CoV-2, utilizing data for all publicly employed medical doctors in Sweden.
Methods: Data regarding positive SARS-CoV-2 test results and employment for publicly employed doctors in Sweden were divided into three observation periods: 1) 1 February to 31 December 2020, 2) 1 January to 30 June 2021 and 3) 1 July 2021 to 31 March 2022.
Association of triglyceride glucose-body mass index and left ventricular hypertrophy in patients with IgA nephropathy: a retrospective study.
Eur J Med Res
December 2024
Department of Nephrology, The Fifth Affiliated Hospital of Sun Yat-Sen University, Zhuhai, China.
Introduction: IgA nephropathy (IgAN) is one of the most prevalent forms of glomerulonephritis worldwide, particularly affecting 40-50% of the East Asian population. Cardiovascular mortality represents a leading cause of death in patients with IgAN. Left ventricular hypertrophy (LVH) serves as a predictor of heart failure and cardiovascular mortality.
View Article and Find Full Text PDFChanges in heart rate variability at rest and during exercise in patients after a stroke: a feasibility study.
Biomed Eng Online
December 2024
The Laboratory for Rehabilitation Engineering, Institute for Human Centred Engineering, Bern University of Applied Sciences, Biel, Switzerland.
The aim of this study was to evaluate the feasibility of using a biofeedback-enhanced robotics-assisted tilt table (RATT) to investigate time- and intensity-dependent changes in heart rate variability (HRV) at rest and during heart rate-controlled exercise in patients recovering from a stroke. Twelve patients (age 55.3 years ± 15.
View Article and Find Full Text PDFObjectives: Arboviruses pose a significant global health challenge. This study investigated the seroprevalence of major human arboviral infections, including yellow fever (YFV), dengue (DENV), Crimean-Congo hemorrhagic fever (CCHF), Rift Valley fever (RVF), West Nile virus (WNV), and chikungunya (CHIK), in Darfur region from September to December 2018. ELISA-IgM was used to detect antibodies.
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