Results 51 to 60 of about 23,044 (252)
Annals of Gastroenterological Surgery, EarlyView.Although neoadjuvant chemotherapy with fluorouracil, cisplatin, and docetaxel (NAC‐DCF) is the current standard neoadjuvant regimen for esophageal squamous cell carcinoma, its substantial toxicity underscores the need to identify patients who derive the greatest benefit.
Eiji Higaki +9 more
wiley +1 more source
Journal of Experimental Neuroscience, 2017 Febrile seizures are childhood convulsions resulting from an infection that leads to an inflammatory response and subsequent convulsions. Prenatal stress has been shown to heighten the progression and intensity of febrile seizures.
Nombuso Valencia Pearl Mkhize +2 more
doaj +1 more source
Relevance of hypocapnia to febrile seizures in children
Egyptian Pediatric Association Gazette, 2015 Background: Febrile seizure is the most common type of convulsion in children. However, there are scanty data on the mechanism of its development. The aim of this study was to evaluate the venous blood gas status in children with febrile seizures and to ...
Huda Marzouk
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Respiratory syncytial virus-associated seizures in Korean children, 2011–2016 [PDF]
Korean Journal of Pediatrics, 2019 Purpose Respiratory syncytial virus (RSV) infection can cause various neurological complications. This study aimed to investigate the RSV-associated neurologic manifestations that present with seizures.
Teahyen Cha +6 more
doaj +1 more source
The Genetics of Febrile Seizures
Pediatric Neurology Briefs, 2015 Investigators from Virginia Commonwealth University, Norwegian Center for Epilepsy and University of Southern Denmark carried out twin studies to analyse the genetic influence of developing epilepsy after febrile seizures.
Ram, Dipak, Newton, Richard
openaire +5 more sources
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Neurology, 2012 The investigators wanted to learn more about whether a common condition called “febrile seizures” was harmful to the brain.1 They also looked at whether they could increase the risk of developing epilepsy later. Febrile seizures are defined as seizures that occur in children with a high fever (over 101°F).
openaire +3 more sources
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 +23 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain +6 more
wiley +1 more source