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Niemann-Pick Type C Disease: From Variant of Uncertain Significance to Pathogenic Variant.
Mov Disord Clin Pract
January 2025
Movement Disorders Clinic, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Differences and contributors to global cognitive performance in the underrepresented Latinx Parkinson's disease population.
Clin Neuropsychol
January 2025
Center for Neurological Restoration, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.
Despite significant progress in understanding the factors influencing cognitive function in Parkinson's disease (PD), there is a notable gap in data representation for the Latinx population. This study aims to evaluate the contributors to and disparities in cognitive performance among Latinx patients with PD. A retrospective analysis was conducted based on cross-sectional data encompassing demographic, environmental, motor, and non-motor disease characteristics from the Latin American Research Consortium on the Genetics of PD (LARGE-PD) and the Parkinson's Progression Markers Initiative (PPMI) cohorts.
View Article and Find Full Text PDFRationale and Design of the HERZCHECK trial: Detection of Early Heart Failure Using Telemedicine and CMR in Structurally Weak Regions (NCT05122793).
J Cardiovasc Magn Reson
January 2025
Department of Cardiology, Angiology and Intensive Care Medicine, Deutsches Herzzentrum der Charité, Augustenburger Platz 1, 13353 Berlin, Germany; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Background And Aims: Heart failure (HF) is an imminent global health problem. Yet established screening algorithms for asymptomatic pre-HF, allowing for early and effective preventive interventions, are largely lacking. The HERZCHECK trial, conducted in structurally underserved rural regions of North-Eastern Germany, aims to close this gap by evaluating the feasibility, diagnostic efficacy, and cost-effectiveness of a fully mobile, telemedically-supervised screening approach, combining cardiac magnetic resonance imaging (CMR) and laboratory testing as central elements.
View Article and Find Full Text PDFImproving and decentralising neuropaediatric healthcare in Nicaragua by implementing an education programme. A pre-experimental study.
Enferm Clin (Engl Ed)
January 2025
Departamento de Enfermería, Facultad de Enfermería, Fisioterapia y Podología, Universidad de Sevilla, Grupo de Investigación PAIDI CTS1050: «Cuidados Complejos, Cronicidad y Resultados en Salud», Sevilla, Spain. Electronic address:
Objective: To improve and decentralize neuropediatric healthcare in Nicaragua by implementing an education program.
Method: This study is carried out as an international cooperation proyecto between September 2018 and June 2019. It has a pre-experimental and before-after design (on a single group) of the implementation of an education program.
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Am J Hum Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address:
Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.
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