Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.
BMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
Clinical outcomes of COVID-19 in patients with liver cirrhosis - a propensity-matched analysis from a multicentric Brazilian cohort.
BMC Infect Dis
January 2025
Universidade Federal de Minas Gerais, Av. Presidente Antônio Carlos, 6627, Belo Horizonte, Minas Gerais, Brazil.
Background: Cirrhosis has been pointed out as a clinical entity that leads to worse clinical prognosis in COVID-19 patients. However, this concept is controversial in the literature. We aimed to evaluate clinical outcomes by comparing patients with cirrhosis to those without cirrhosis in a Brazilian cohort.
View Article and Find Full Text PDFPreterm preeclampsia screening and prevention: a comprehensive approach to implementation in a real-world setting.
BMC Pregnancy Childbirth
January 2025
Genetic Program, North York General Hospital, Toronto, ON, Canada.
Background: Preeclampsia significantly impacts maternal and perinatal health. Early screening using advanced models and primary prevention with low-dose acetylsalicylic acid for high-risk populations is crucial to reduce the disease's incidence. This study assesses the feasibility of implementing preterm preeclampsia screening and prevention by leveraging information from our current aneuploidy screening program in a real-world setting with geographic separation clinical site and laboratory analysis site.
View Article and Find Full Text PDFExploring Brain Imaging and Genetic Risk Factors in Different Progression States of Alzheimer's Disease Through OSnetNMF-Based Methods.
J Mol Neurosci
January 2025
Bio-Med Big Data Center, CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Alzheimer's disease (AD) is a neurodegenerative disease with no effective treatment, often preceded by mild cognitive impairment (MCI). Multimodal imaging genetics integrates imaging and genetic data to gain a deeper understanding of disease progression and individual variations. This study focuses on exploring the mechanisms that drive the transition from normal cognition to MCI and ultimately to AD.
View Article and Find Full Text PDFAssociation between postoperative thromboembolic and hemorrhagic complications and clinical outcomes after surgery for chronic subdural hematoma in patients with anticoagulation therapy for atrial fibrillation.
Acta Neurochir (Wien)
January 2025
Department of Neurosurgery, Helsinki University Hospital and University of Helsinki, Haartmaninkatu 4, Po Box 320, 00029 HUS, Helsinki, Finland.
Purpose: A substantial proportion of patients undergoing surgery for chronic subdural hematoma (CSDH) use anticoagulation medication due to atrial fibrillation (AF). We assessed the risk of postoperative thromboembolic and hemorrhagic complications in CSDH surgery patients with a history of anticoagulation for AF and their association with outcome.
Methods: This posthoc analysis of a nationwide multicenter randomized controlled trial conducted during 2020-2022 included CSDH patients undergoing surgery with a history of preoperative anticoagulation use for AF.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!