Results 151 to 160 of about 546,706 (238)

Acute Neurological Events in Children With Hemoglobin SC Disease: A Multicenter Retrospective Study

Pediatric Blood &Cancer, Volume 73, Issue 11, November 2026.
ABSTRACT Introduction Neurological manifestations in children with hemoglobin SC (HbSC) disease remain insufficiently characterized, particularly regarding acute events. The aim of this study was to describe the spectrum and frequency of acute neurological events in a multicenter cohort of children with HbSC disease.
Célia Paulmin, Bérengère Koehl, Audrey Maudoux, Hanine Mansour, Marie‐Hélène Odievre, Nathalie Garrec, Emilie Georget, Cécile Arnaud, Slimane Allali, Lydia Doumdo, Marie Belloy, Corinne Guitton   +11 more
wiley   +1 more source

Familial SCN1A-Related Epilepsy in Palestinian Siblings: Challenges of Genetic Testing in Resource-Limited Settings: A Case Report. [PDF]

Clin Case Rep
Abu Hetta A, Razem RS, Shahateet S, Pujee BK, Shawabka AM, AbuIrayyeh BM.   +5 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
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

Genetic landscape of pediatric seizures in Southeast China: identification of a novel GLI3 frameshift variant through whole-exome sequencing. [PDF]

Ann Med Surg (Lond)
Hong S, Han D, Qi M, Huang S, Ren M, Ding L, Huang X, Qiu W, Song J, Huang Y, Li X, Chen H, Wang X, Zou L, Wei Y.   +14 more
europepmc   +1 more source

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, Volume 200, Issue 10, Page 2289-2308, October 2026.
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

Super-refractory Status Epilepticus in Febrile Infection-Related Epilepsy Syndrome Triggered by Influenza A: A Pediatric Case Report. [PDF]

Cureus
Ocakdan M.
europepmc   +1 more source

Culture‐Negative Infective Endocarditis Presumed due to Brucella Causing Rapid Native Aortic Valve Destruction in a Young Adult: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Culture‐negative endocarditis with features consistent with Brucella can rapidly destroy a normal aortic valve in young adults. 2023 Duke‐ISCVID criteria (clinical/imaging findings plus histopathology), supported by serology and occupational exposure enabled urgent combined antimicrobial‐surgical management without culture confirmation ...
Baraa Nassar, Kristen I. Gharo, Olga Ramahi, Hussein Ghannam, Ahmed Romana, Kinda Abu Hashhash   +5 more
wiley   +1 more source

Mothers' home management practices during febrile seizures in children under six years of age in Jordan. [PDF]

PLoS One
Atout M, Alhsenat NM, Gharaibeh H, Tarawneh FS, Qashou A.   +4 more
europepmc   +1 more source

Adult‐Onset Central Nervous System Erdheim–Chester Disease Successfully Treated With Cladribine and Cytarabine: Case Report and Literature Review

eJHaem, Volume 7, Issue 5, October 2026.
ABSTRACT Erdheim–Chester disease (ECD) is a rare histiocytic disorder with heterogeneous clinical manifestations. Central nervous system (CNS) involvement is associated with poor prognosis. Although targeted therapies have improved outcomes in patients with mitogen‐activated protein kinase (MAPK) pathway alterations, optimal treatment strategies for ...
Naoki Watanabe, Hajime Yasuda, Midori Ishii, Norihide Izumi, Ayaka Goto, Tadaaki Inano, Yuji Tomizawa, Taku Hatano, Miki Ando   +8 more
wiley   +1 more source

Knowledge and attitude of mother towards home management of febrile seizure in children: A cross-sectional study. [PDF]

SAGE Open Med
Alhsenat NM, Gharaibeh H, Atout M, Tarawneh FS.   +3 more
europepmc   +1 more source