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eNSMBL-PASD: Spearheading early autism spectrum disorder detection through advanced genomic computational frameworks utilizing ensemble learning models.
Digit Health
January 2025
Department of Computer Science, School of Systems and Technology, University of Management and Technology, Lahore, Pakistan.
Objective: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition influenced by various genetic and environmental factors. Currently, there is no definitive clinical test, such as a blood analysis or brain scan, for early diagnosis. The objective of this study is to develop a computational model that predicts ASD driver genes in the early stages using genomic data, aiming to enhance early diagnosis and intervention.
View Article and Find Full Text PDFRab10-associated tubulation as an early marker for biogenesis of the assembly compartment in cytomegalovirus-infected cells.
Front Cell Dev Biol
January 2025
Department of Physiology, Immunology and Pathophysiology, Faculty of Medicine, University of Rijeka, Rijeka, Croatia.
Introduction: Cytomegalovirus (CMV) infection reorganizes early endosomes (EE), recycling endosome (RE), and trans-Golgi network (TGN) and expands their intermediates into a large perinuclear structure that forms the inner part of the cytoplasmic assembly complex (AC). The reorganization begins and results with the basic configuration (known as pre-AC) in the early (E) phase of infection, but the sequence of developmental steps is not yet well understood. One of the first signs of the establishment of the inner pre-AC, which can be observed by immunofluorescence, is the accumulation of Rab10.
View Article and Find Full Text PDFCharacterization of the radiological markers in relation to the time elapsed between the appearance and the ventriculoperitoneal shunt placement.
World Neurosurg
January 2025
Radiology Department, Galilee Medical Center, Nahariya, 221001, Israel; The Azrieli Faculty of Medicine, Bar-Ilan University, Safed, 1311502, Israel.
Objective: This study was conducted to evaluate the time gap between earliest head CT with a significant Radscale score and ventriculo-peritoneal (VP) shunt placement.
Material And Methods: The study is a retrospective observational analytic study. The study population includes idiopathic normal pressure hydrocephalus (iNPH) patients treated with a VP shunt in a single center between the years 2016 and 2022 and have at least 2 CTs, one in proximity to diagnosis and another obtained at an earlier time point.
Diagnostic Accuracy of Hyperdense Artery Sign in Early Detection of Middle Cerebral Artery Infarction: A Cross-Sectional Validation Study.
Ann Neurosci
October 2024
Department of Radiology, Aga Khan University Hospital, Stadium Road, Karachi, Pakistan.
Background: Hyperdense middle cerebral artery sign (HMCAS) on a non-enhanced multidetector computed tomography (MDCT) scan is considered an important radiological marker in detecting acute arterial thrombotic occlusion, and it is one of the earliest signs of ischemic cerebrovascular accident (CVA). This finding has been observed within 90 min of symptom onset. Modern approaches to patients with cerebral infarction emphasize early diagnosis and management.
View Article and Find Full Text PDFSomatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis.
Nat Med
January 2025
Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.
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