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Technology and Dementia Preconference.
Alzheimers Dement
December 2024
Deutsches Zentrum für Neurodegenerative Erkrankungen e. V. (DZNE), site Rostock / Greifswald, Rostock, Germany.
Background: Familial Alzheimer's disease research necessitates innovative methodologies to disentangle the intricate relationships between genetic factors and neuroimaging measures. Traditional frequentist approaches, often hampered by small sample sizes in this population and challenges in incorporating prior knowledge transparently, may limit the robustness of findings.
Methods: We analyzed neuroimaging data of preclinical PSNE1 single mutation carriers, utilizing the software JASP to test effects of carrier status on measures of basal forebrain functional connectivity using both frequentist and Bayesian approach.
Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.
Exp Eye Res
January 2025
Genetic Diagnosis Unit, Institute for Rare Diseases Research (IIER), Carlos III Institute of Health (ISCIII), Madrid, Spain; Center for Biomedical Research on Rare Diseases Network, Carlos III Institute of Health (ISCIII), Madrid, Spain (U758; CB06/07/1009; CIBERER-ISCIII).
Constitutional variants in the RB1 gene predispose individuals to the development of Retinoblastoma (RB) and the occurrence of second tumors in adulthood. Detection of causal RB1 gene variants is essential to establish the genetic diagnosis and to performing familial studies and counseling. In our cohort of 579 Spanish RB patients, 15% of cases suspected to have a genetic origin remained negative after traditional Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) of RB1 gene, likely due to the possibility of mosaicism or non-coding variants.
View Article and Find Full Text PDFElective Thoracic Surgical Resections for Pulmonary Arteriovenous Malformations - A 16 Year Single-Center Experience.
Pulm Circ
January 2025
National Heart and Lung Institute, Imperial College London UK.
Pulmonary arteriovenous malformations (PAVMs) cause cerebral abscess and ischemic stroke due to paradoxical emboli, risks that are increasingly recognized. We report the evolving placement of thoracic surgery in multi-disciplinary team management of PAVMs that were sporadic or associated with hereditary hemorrhagic telangiectasia. From 1983 to 2006, all patients receiving elective treatment had embolization.
View Article and Find Full Text PDFClinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis.
Exp Ther Med
February 2025
Molecular Pathology, Azienda USL-IRCCS di Reggio Emilia, I-42123 Reggio Emilia, Italy.
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with an annual incidence of ~2 cases per million worldwide. The hereditary form is more likely to present in younger patients. To date, PPGL is considered a complex pathology that is difficult to diagnose.
View Article and Find Full Text PDFDiverse phenotype of Ménière's disease associated with family history, thyroid disorder, migraine and associated disorders.
J Otol
October 2024
Department of Otolaryngology-Head and Neck Surgery, University of Colorado School of Medicine, Aurora, CO, USA.
Objective: To better understand the clinical phenotype of Ménière's disease (MD), we examined family history, thyroid disorder, migraine, and associated disorders in complaints of people living with MD.
Method: We designed the study as a retrospective and examined data gathered from 912 participants with MD. Their data were originally collected by the Finnish Ménière Federation (FMF).
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