Results 101 to 110 of about 152,622 (261)
Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert +4 more
wiley +1 more source
Ayurvedic management of acquired ptosis (~Vatahata vartma)
International Journal of Ayurveda ResearchPtosis is an abnormal drooping of the upper eyelid. In this case, a 74-year-old female patient presented with a history of drooping of the right eye lid, diplopia, right frontotemporal headache, pain in right eye, and tinnitus in the right ear ...
Narayanan Nelliakattu +3 more
doaj +1 more source
Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source
Early detection of cerebral palsy among a high-risk cohort in Bangladesh
BMJ Paediatrics OpenObjective To evaluate the predictive validity of best practice early detection tools for cerebral palsy (CP) in a high-risk cohort.Study design Prospective longitudinal cohort study.Setting Neonatal intensive care unit of a regional tertiary hospital in ...
Catherine Morgan +11 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan +13 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi +20 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Most adults with neurological disability rely on general practitioners for managing and preventing health complications. This study analysed patterns of general practice service utilisation among National Disability Insurance Scheme (NDIS) participants with neurological disability and compared these with people who are not NDIS participants ...
Stacey Oliver +8 more
wiley +1 more source
North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva +18 more
wiley +1 more source
Blood SOD1 Activity in ALS Patients Receiving Tofersen Treatment
Annals of Neurology, EarlyView.Objective The antisense oligonucleotide tofersen is the first disease‐modifying drug for SOD1‐related amyotrophic lateral sclerosis (ALS) and was approved because of its ability to reduce SOD1 protein and neurofilament levels. The effect of tofersen on SOD1 activity is unclear but of clinical relevance because homozygous SOD1 mutations, linked to ...
Katharina Goehring +18 more
wiley +1 more source