Results 111 to 120 of about 7,066 (221)
Phenytoin-induced cerebellar atrophy: A case for reversibility of neurological decline
This case serves as a reminder of the infrequent, yet consequential occurrence of cerebellar degeneration linked to phenytoin usage. Whilst emphasizes the importance of monitoring patients on long-term phenytoin therapy, and it further suggests ...
Edwin Mogere+2 more
doaj
ABSTRACT Objective Distress following treatment is common in children and adolescents treated for a brain tumour, reflecting underlying difficulties with emotion regulation. However, the medical factors that evoke distress remain poorly understood. Cranial radiation therapy (CRT), administered for malignant tumours, is associated with a high treatment ...
Elizaveta Igoshina+3 more
wiley +1 more source
ABSTRACT Joubert Syndrome's rarity and diagnostic complexity, especially in Sudan, pose significant challenges in low‐resource settings. Sibling cases with neurodevelopmental delays and MRI‐confirmed molar tooth sign highlight the urgent need for heightened clinical suspicion, accessible neuroimaging, and genetic counseling to address underdiagnosis in
Ahmed Alshafei Elmahi Ahmed+10 more
wiley +1 more source
Editorial: Improving visual deficits with perceptual learning
Gianluca eCampana+3 more
doaj +1 more source
ABSTRACT Retinoblastoma (Rb) is a rare intraocular malignancy that affects one in 23,000 children born in the UK each year. This cancer can impact survivors across their lifetime, with the specific psychosocial challenges affecting this group becoming increasingly understood.
Nicola O'Donnell+3 more
wiley +1 more source
Although it has been speculated that benign paroxysmal positional vertigo (BPPV) derives from the utricle or posterior semicircular canal, the origin of BPPV is still controversial. In this study, we investigated the role of the utricle and semicircular canals (especially the vertical semicircular canal) relative to BPPV by three-dimensional analysis ...
openaire +3 more sources
Genetic mutations disrupt the coordinated mode of tyrosinase's intra‐melanosomal domain
Abstract Oculocutaneous albinism type 1 is a genetic disorder caused by the disruption of tyrosinase activity in the melanogenesis pathway. The tyrosinase's intramelanosomal domain can be subdivided into the catalytic and Cys‐rich subdomains, integral for protein stability and catalytic activity.
Sarah Toay, Yuri V. Sergeev
wiley +1 more source
Variants in the DNM1 gene cause a progressive cone‐rod synaptic dysfunction, evidenced by the electroretinogram. This is due to retinal synaptic abnormality due to poor endocytic scission of synaptic buds at the synapse consequent on Dynamin‐1 abnormalities.
Oliver R. Marmoy+3 more
wiley +1 more source
USSR Space Life Sciences Digest, volume 1, no. 4 [PDF]
An overview of the developments and direction of the USSR Space Life Sciences Program is given. Highlights of launches, program development, and mission planning are given. Results of ground-based research and space flight studies are summarized.
Paulson, L. D.
core +1 more source
The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome
Here, we present data on genetic variants and phenotype development of 47 individuals with Bosch‐Boonstra‐Schaaf optic atrophy syndrome, a rare neurodevelopmental disorder, highlighting the fact that the disease does not appear to be fundamentally progressive.
Ilia Valentin+4 more
wiley +1 more source