Results 51 to 60 of about 37,135 (264)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Assessing the Effectiveness of Eslicarbazepine Acetate in Reducing Audiogenic Reflex Seizures in the GASH/Sal Model of Epilepsy

Biomedicines
Eslicarbazepine acetate (ESL) is a third-generation antiepileptic drug indicated as monotherapy for adults with newly diagnosed epilepsy and as adjunctive therapy for the treatment of partial seizures.
Jaime Gonçalves-Sánchez, Thomas Ramírez-Santos, Dolores E. López, Jesús M. Gonçalves-Estella, Consuelo Sancho   +4 more
doaj   +1 more source

Hyperostosis frontalis interna: Observed patterns, prevalence, and dementia associations in older adults

The Anatomical Record, EarlyView.
Abstract Hyperostosis frontalis interna (HFI) is a frequently underrecognized condition characterized by overgrowth of the frontal endocranium, most commonly observed in post‐menopausal women. Although its etiology remains unclear, hormonal influences and a possible relationship with neurocognitive changes have been proposed.
Danielle Felsberg, Kira Morgan, Rickey‐Levon Burch, Madelyn Furr, Zachary Tyson, Steven Lesh   +5 more
wiley   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Visual Responsivity in Autism: Measuring Visual Responses in Autistic and Non‐Autistic Adults Using Psychophysics, fMRI, and EEG

Autism Research, EarlyView.
ABSTRACT Autistic individuals frequently report heightened sensitivity to visual stimuli, often described as discomfort in environments with bright or flickering lights. These experiences are hypothesized to reflect underlying differences in sensory gain or neural hyperexcitability; however, findings across studies have yielded mixed results, likely ...
Daniela L. Seczon, Kristin M. Woodard, Tamar Kolodny, Hannah M. Rea, Mark Pettet, Sara Jane Webb, Scott O. Murray   +6 more
wiley   +1 more source

Status epilepticus: modern views on classification, typology, methods of diagnosis and treatment with third-generation anticonvulsants (review)

Медицина неотложных состояний
Status epilepticus (SE) is a medical emergency associated with high morbidity and mortality. The guidelines of the International League Against Epilepsy use a stepwise approach to the treatment of SE depending on the response to treatment ...
L.B. Maryenko, A.Ye. Dubenko, T.А. Litovchenko   +2 more
doaj   +1 more source

From anthelmintic to neuro‐oncology: A systematic review of mebendazole repurposing for brain tumour therapy

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Mebendazole (MBZ), a benzimidazole anthelmintic with established clinical use, has emerged as a repurposing candidate for primary brain tumours due to its multimodal anticancer actions and central nervous system penetrance. This systematic review synthesizes preclinical and clinical evidence evaluating MBZ's efficacy, mechanisms of action ...
Ciara B. Blum, Milli McMenamin, Tessa Khoo, John M. Edwin, Prathibha Jose, Liam A. O’Callaghan   +5 more
wiley   +1 more source

Challenges in the Treatment of Epilepsy [PDF]

Journal of Kerman University of Medical Sciences, 2012
Epilepsy is one of the most important diseases of nervous system that involves 0.5-1% of the population. In spite of new developments in antiepileptic drugs, between 20-30% of epileptic patients can not be controlled and even those who are controlled ...
H.A Ebrahimi
doaj