Results 111 to 120 of about 97,306 (377)

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia

Movement Disorders, EarlyView.
Abstract Background ANK3 encodes ankyrin‐G, a key scaffolding protein essential for neuronal function. While both monoallelic and biallelic ANK3 variants have been linked to neurodevelopmental disorders (NDDs), existing evidence for their pathogenicity and clinical correlation remains limited and heterogeneous.
Reza Maroofian, Giulia Spoto, Dalila Moualek, Maha S. Zaki, Asthik Biswas, Felice D'Arco, Sajjad Biglari, Pooneh Nikuei, Joseph G. Gleeson, Meriem Tazir, Lamia Ali Pacha, Henry Houlden   +11 more
wiley   +1 more source

The consequences of strabismus and the benefits of adult strabismus surgery [PDF]

, 2016
Strabismus has a negative impact on patients’ lives regardless of their age. Factors such as self-esteem, relationships with others, education and the ability to find employment may all be negatively affected by strabismus.
Astle, Andrew T., Foulsham, Thomas, McGraw, Paul V.   +2 more
core  

Ocular manifestations in Gorlin-Goltz syndrome [PDF]

, 2019
Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity.
Franzone, F., Giustini, S., Himmelblau, E., Iacovino, C., Lambiase, A., Mallone, F., Miraglia, E., Moramarco, A., Roberti, V.   +8 more
core   +1 more source

Acute hemichorea‐hemiballism as the initial sign of cortical cerebral infarction: A case report

Neuroprotection, EarlyView.
Abstract Hemichorea‐hemiballism is classically associated with the contralateral basal ganglia, particularly involving the putamen and subthalamic nucleus, whereas cortical involvement remains a rare etiology. In this case, we present a patient with acute hemichorea‐hemiballism secondary to multiple cortical infarcts demonstrated by neuroimaging.
Jin Xiong, Qian Yang, Yong Liu, Jianping Yu, Yili Wang, Lan Wen   +5 more
wiley   +1 more source

Uniplanar nystagmus associated with perceptual and cognitive visual dysfunction due to presumed focal ischemic occipital cortical atrophy: a missed diagnosis and new observation [PDF]

, 2012
Uniplanar nystagmus has been described in relation to pathology of the brain stem, retina, optic nerve, sensory visual deprivation, periventricular leucomalacia, and drug toxicity.
Dorris, Liam, Dutton, Gordon N., Philip, Swetha Sara   +2 more
core   +3 more sources

Neural Plasticity Following Surgical Correction of Strabismus in Monkeys

bioRxiv, 2018
The preferred treatment for correcting strabismus in humans involves the surgical manipulation of extraocular muscles (EOM). Although widely practiced, this treatment has varying levels of success and permanence, possibly due to adaptive responses within
Mythri Pullela, Mehmet N. Ağaoğlu, Anand C. Joshi, Sevda Agaoglu, D. Coats, V. Das   +5 more
semanticscholar   +1 more source

Retinoblastoma Research in Africa: A Scoping Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Achieving equity in childhood cancer represents a global challenge. In Africa, where retinoblastoma has high mortality and morbidity, strengthening research capacity is crucial in developing clinical guidelines from local evidence. This review identified the scope of retinoblastoma research conducted in Africa.
Sung Park, Yaw A. Essuman, Sadik T. Sherief, Sameh E. Soliman, Vera A. Essuman, Helen Dimaras   +5 more
wiley   +1 more source

To assess knowledge and attitude of parents toward children suffering from strabismus in Indian subcontinent

Indian Journal of Ophthalmology, 2017
Purpose: Strabismus and anisometropia are the most common causes of amblyopia. It can be easily prevented or treated if detected early. With the changing socio-cultural-economic milieu of the society, the perspectives of strabismus in society are ...
Anirudh Singh, Vipin Rana, Sagarika Patyal, Santosh Kumar, Sanjay K Mishra, Vijay K Sharma   +5 more
doaj   +1 more source

Anesthesia in the surgery of strabismus: role of anesthetic agents in the ocular deviation and surgical outcome [PDF]

, 2015
Purpose: To determine whether the changes in the ocular alignment following general anesthesia, maintained with two different inhalational anesthetic agents, sevoflurane and desflurane, can be used as a predictor for surgical outcomes in children with ...
Arrico, Loredana, Cannata, Riccardo, Collini, Saul, Malagola, Romualdo, Migliorini, Raffaele, Servidio, Annalisa   +5 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source