Results 161 to 170 of about 142,677 (240)
Abstract Objective In children with tuberous sclerosis complex (TSC) and drug‐resistant epilepsy (DRE), magnetic resonance imaging–guided stereotactic laser ablation (SLA) therapy offers less‐invasive treatment compared to craniotomy and resection. Our study seeks to further expand on the long‐term outcomes in patients with TSC‐related DRE who have ...
Chelsey Ortman +23 more
wiley +1 more source
Abstract Consensus‐based recommendations (CBRs) are essential for health care decision‐making when evidence is limited or conflicting. They can be developed using established methodologies such as the Delphi technique, the nominal group technique (NGT), and the RAND Corporation/University of California Los Angeles (UCLA) Appropriateness Method (RAM ...
Rowan Haffner +14 more
wiley +1 more source
ABSTRACT Tim Burton's Christmas trilogy, Batman Returns, The Nightmare Before Christmas and Edward Scissorhands are all characterized by his trademark features. These include characters with ambiguous identities, apparently “normal” worlds adjacent to spaces associated with difference and exclusion, and the inevitable intrusion of the latter into the ...
Fran Pheasant‐Kelly
wiley +1 more source
Research in all areas of sciences and humanities has led to the creation of a highly competitive environment which necessitates reporting of ideas, and discoveries at rapid pace.
Siddiqui, Anwar, Wasay, Mohammad
core +1 more source
The meta‐analysis, involving with 96 patients, shows high overall response rate with favorable safety to use topical beta‐blockers for epidermal growth factor receptor inhibitors‐induced periungual side effects. Subgroups of lung cancer or solution formation had lower complete response rate, while tyrosine kinase inhibitor and female patients had ...
Po‐Kai Chan +2 more
wiley +1 more source
NEAT1 Promotes Epileptogenesis in Tuberous Sclerosis Complex
The primary neurological manifestations of tuberous sclerosis complex (TSC) are intractable epilepsy and intellectual disability. NEAT1 is differentially expressed in TSC‐related epilepsy and influences neuronal excitability by regulating the PI3K/AKT/mTOR signaling pathway.
Suhui Kuang +8 more
wiley +1 more source
In this Chinese family with hereditary deafness, we identified a novel DIAPH3 point variant (NM_001042517.2:c.1472A>G). This variant manifests as late‐onset progressive sensorineural hearing loss, with congruent pure‐tone audiometry (PTA) and auditory brainstem response (ABR) thresholds.
Lingling Zeng +8 more
wiley +1 more source
We report a novel IBA57 variant in a pediatric case, with pathogenicity confirmed through familial segregation analysis, Sanger sequencing, 3D protein modeling, and evolutionary conservation studies. Mitochondrial complex activity assays demonstrated functional impairment. A comprehensive review of literature further elucidates the genotypic‐phenotypic
Jia Xu +5 more
wiley +1 more source
Globally, in 2021, there were 18.15 million prevalent cases of epilepsy in children and adolescents (8.24 and 9.91 million of idiopathic and secondary epilepsy, respectively). Between 1990 and 2021, the prevalence rate of secondary epilepsy increased by 16.14%, with especially high increases attributable to neonatal encephalopathy, neonatal jaundice ...
Yun Seo Kim +10 more
wiley +1 more source
Clinical exome sequencing (CES) was performed on 108 Spanish patients with suspected hereditary spastic paraparesis (HSP), using a virtual 129‐gene panel and HPO‐based variant filtering. A molecular diagnosis was achieved in 53% of cases, with 21 causative genes identified (8 novel variants), SPAST (AD) and SPG7 (AR) being the most frequent genetic ...
Lidón Carretero‐Vilarroig +8 more
wiley +1 more source

