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Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
School of Medical & Allied Sciences, K.R. Mangalam University, Gurugram, Haryana, India.
Background: Parkinson's disease is a hypokinetic disorder characterized by selective loss of dopaminergic in substantia nigra pars compacta (SNPc) region of mid-brain. Dopaminergic degeneration of neurons is considered to be due to oxidative stress, neuroinflammation, neurons mitochondrial dysfunction and glutamate excitotoxicity etc. Inosine a purine nucleoside has been reported to produce anti-oxidant, anti-inflammatory and neuromodulatory actions in previous studies.
View Article and Find Full Text PDFClinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
View Article and Find Full Text PDFNONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.
Eur J Med Genet
December 2024
CHU Lille, Institut de Génétique Médicale, F-59000 Lille, France; Univ. Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, F-59000 Lille, France. Electronic address:
The X-linked NONO gene encodes Non-Pou Domain-Containing Octamer-Binding Protein, a multifunctional member of the DBHS family involved in transcriptional regulation, RNA splicing and DNA repair. Pathogenic variants in NONO cause Intellectual Developmental Disorder, X-linked Syndromic (MIM #300967), characterised by intellectual disability, neurodevelopmental delay, cardiomyopathy, such as left ventricular non-compaction (LVNC), and congenital heart defects such as including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), and patent foramen ovale (PFO). This study reports three new patients with pathogenic hemizygous frameshift variants in NONO identified with exome sequencing, broadening the clinical presentation.
View Article and Find Full Text PDFPreserved motion perception and the density of cortical projections to V5 in homonymous hemianopia.
Brain Commun
December 2024
Division of Neurology, Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
Following a unilateral post-chiasmal lesion of the geniculo-striate pathway, patients develop homonymous visual field defects. Using classical perimetry, patients with 'complete' homonymous hemianopia are unaware of stimuli in the affected hemifield. However, some show preserved vision in the affected hemifield in which the conscious perception of moving stimuli is preserved (Riddoch phenomenon).
View Article and Find Full Text PDFThe radiohumeral synovial plica: anatomy, histology, and implications in chronic lateral epicondylitis.
Eur Radiol
December 2024
Department of Radiology, Beijing Jishuitan Hospital, Capital Medical University, Beijing, China.
Objectives: Our study aimed to elucidate synovial plica (SP) of the elbow histological characteristics and the anatomical relationship with adjacent structures. Subsequently, we sought to assess the relationship between SP and clinical symptoms as well as magnetic resonance imaging (MRI) features in patients with chronic lateral epicondylitis.
Methods: MRI was performed on eight cadaveric elbows specimens.
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