Results 41 to 50 of about 257,574 (163)
Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
Non‐Alzheimer Aβ deposits in the human CNS: Implications with hypoxia and related conditions
Brain Pathology, EarlyView.An Aβ deposit in a non‐Alzheimer's brain from an individual who experienced hypoxia/energy failure. Abstract We recently reported the deposition of Aβ in the frontal cortex of individuals who died of acute coronavirus disease 2019 (COVID‐19), or who did not have COVID‐19 but had respiratory distress, or infants with severe cardiac malformations.
Esma Karlovich +5 more
wiley +1 more source
Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border
Clinical Genetics, EarlyView.Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart +17 more
wiley +1 more source
Prevalence of Amblyopia in Congenital PTOSIS Patients [PDF]
Background: Congenital ptosis is a condition in which the upper eyelid droops and can become noticeable at birth or within the first year of life. It can be caused by issues with the muscles that control the eyelid or nerve problems, such as third nerve ...
S.Neela Priyadharshini, K.Namitha Bhuvaneshwari, C.Indhu
core +1 more source
Genetic testing in paediatric neurological disorders
Developmental Medicine &Child Neurology, EarlyView.In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba +15 more
wiley +1 more source
Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis
Frontiers in Neurology, 2017 Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no ...
Michael S. Salman +3 more
doaj +1 more source
Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome. [PDF]
Eur J NeurolClinical variability in CHRND‐related congenital myasthenic syndrome ranges from isolated ocular involvement to severe neonatal‐onset disease with respiratory insufficiency. In a multicenter cohort of nine patients, ocular symptoms represented the core phenotype, while disease severity was influenced by genotype and presumed residual acetylcholine ...
Muhmann D +16 more
europepmc +2 more sources
Elevated Nocturnal CO2 and Autonomic Dysfunction in Children With Down Syndrome
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Sleep‐disordered breathing (SDB) frequently complicates Down syndrome (DS). Beyond upper airway obstruction, emerging evidence suggests an autonomic nervous system (ANS) dysfunction affecting CO2 regulation. The aim of this study was to investigate nocturnal gas exchanges in children with DS and compare them to what has been ...
Jessica Taytard +12 more
wiley +1 more source
Carotid artery dissection linked to intermittent apnoeic swimming: A case–control study
Experimental Physiology, EarlyView.Abstract Internal carotid artery (ICA) dissection is a rare and potentially devastating cause of cerebral ischaemia, initiated by an intimal tear or rupture of the vasa vasorum, that can lead to an intraluminal thrombus, vascular stenosis, occlusion, or dissecting aneurysm formation.
Damian M. Bailey +14 more
wiley +1 more source
Marcus Gunn Jaw Winking Phenomenon - A case of the widening eye
Online Journal of Health & Allied Sciences, 2009 Marcus Gunn jaw winking phenomenon is a congenital synkinetic movement due to synkinesis between the upper eyelid and the pterygoids and it accounts for 8% of patients with congenital ptosis. In rare instances, ptosis may be absent.
Kamalakshi G. Bhat, Anupama Karanth
doaj