Results 81 to 90 of about 31,323 (242)

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

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

EEG⁃fMRI study of resting⁃state networks in childhood absence epilepsy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Objective To observe the alterations of resting ⁃ state brain functional networks in childhood absence epilepsy (CAE) using resting ⁃ state functional magnetic resonance imaging (fMRI) analysis, and to explore the cognitive disorders of children in ...
Ling ZHENG, Zhi⁃qiang ZHANG, Zheng⁃ge WANG, Mao⁃xue WANG, Cui⁃ping YUAN, Lian⁃fang SHEN, Guang⁃hui CHEN, Fang YANG, Qi⁃fu TAN, Qing JIAO, Guang⁃ming LU   +10 more
doaj  

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Animal models of absence epilepsies: What do they model and do sex and sex hormones matter?

Neurobiology of Disease, 2014
While epidemiological data suggest a female prevalence in human childhood- and adolescence-onset typical absence epilepsy syndromes, the sex difference is less clear in adult-onset syndromes.
Gilles van Luijtelaar, Filiz Yilmaz Onat, Martin J. Gallagher   +2 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Scoping literature review: Comparing MRI tractography methods for optic radiation analysis

The Anatomical Record, EarlyView.
Abstract Accurate tractography mapping of the optic radiations is essential to avoiding post‐operative visual field deficits in patients undergoing temporal lobe surgery. This literature review highlights the current landscape of MRI tractography methods that are used to delineate the optic radiations (ORs), with a particular focus on the anterior ...
Hriday Sahni, Cristina Schaurich, Lara Boyd, Claudia Krebs   +3 more
wiley   +1 more source

Exploring the core network of the structural covariance network in childhood absence epilepsy. [PDF]

Heliyon, 2023
Eussen MJA, Jansen JFA, Voncken TPC, Debeij-Van Hall MHJA, Hendriksen JGM, Vermeulen RJ, Klinkenberg S, Backes WH, Drenthen GS.   +8 more
europepmc   +1 more source

‘They Even Have the Capacity, but the Places Aren't Prepared to Receive Them’: Community Environment and Participation of Autistic Children in a Family‐Engaged Research Analysis

Autism Research, EarlyView.
ABSTRACT To examine the associations between community environmental barriers and support and the participation of autistic children, and to interpret these findings from the perspective of caregivers engaged as research partners. This cross‐sectional observational study employed a mixed‐methods design.
Léia Cordeiro de Oliveira, Cid André Fidelis de Paula Gomes, Gustavo Pietracatelli Janizello, Wallace Pereira Silva, Alice Soper, Monika Novak‐Pavlic, Olaf Kraus de Camargo, Soraia Micaela Silva   +7 more
wiley   +1 more source

Sleep in Young Children With Autism, ADHD and Combined Presentations

Autism Research, EarlyView.
ABSTRACT Autism and attention deficit hyperactivity disorder (ADHD) are often accompanied by sleep problems. Longitudinal studies hint towards a greater proportion of persisting sleep problems across early development in neurodivergent compared to neurotypical individuals. Within the context of a prospective infant sibling study of autism and ADHD (n = 
Eva‐Maria Kurz, Sven Bölte, Terje Falck‐Ytter   +2 more
wiley   +1 more source