Results 141 to 150 of about 129,132 (295)

L1CAM Promotes the Infiltrative Properties of Patient‐Derived Glioblastoma Cells

Cancer Science, EarlyView.
In vivo validation of L1CAM‐mediated GBM infiltration. Orthotopic transplantation of L1CAM‐expressing GBM cells into mouse brains demonstrated that L1CAM significantly promotes tumor cell infiltration and expansion in the brain parenchyma, confirming its critical role in the aggressive progression of GBM.
Asako Katsuma, Daisuke Kanematsu, Yukako Handa, Tomoko Shofuda, Atsuyo Yamamoto, Kayo Nishitani, Zhize Xiao, Daisuke Kawauchi, Kentarou Baba, Naoyuki Inagaki, Yonehiro Kanemura   +10 more
wiley   +1 more source

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar

Clinical Genetics, EarlyView.
CT scan image of a 17‐year‐old female with primary ciliary dyskinesia (PCD) showing dextrocardia and bilateral bronchiectasis. The study describes genetic mutations affecting patients with PCD in Qatar and the corresponding clinical phenotype of affected patients.
Atqah AbdulWahab, Reem Mohamed, Amani Hamid, Hadeel Alzoubi, Donald R. Love, Kelly Robinson, Ibrahim Janahi, Mutasim Abu‐Hasan   +7 more
wiley   +1 more source

X-linked Hydrocephalus (Bickers-Adams Syndrome) in a Nigerian Family.

Nigerian Journal of Paediatrics
Summary: A male infant with isolated prenatal hydrocephalus whose clinical features and family history were consistent with the diagnosis of X-linked hydrocephalus (Bickers-Adams syndrome) is described.
Iroha EO , Egri-Okwaji MTC
doaj  

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source

Preverbal visual assessment for screening cerebral visual impairment: Diagnostic accuracy and clinical utility

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To evaluate the relationship between Preverbal Visual Assessment (PreViAs) results and cerebral visual impairment (CVI) diagnosis. Method This single‐center retrospective chart review included children who completed a CVI interdisciplinary clinic or occupational therapy vision evaluation between May 2018 and May 2023 and had a completed ...
Karen L. Harpster, Terry L. Schwartz, Alaina Johnson, Reena Donofe, Li Lin, Melissa L. Rice   +5 more
wiley   +1 more source

Asymptomatic hydrocephalus [PDF]

Canadian Medical Association Journal, 2021
Persad, Amit R., Bass, Victoria, Meguro, Kotoo   +2 more
openaire   +2 more sources

Hammersmith Infant Neurological Examination for early detection of cerebral palsy in Ethiopia: A feasibility and knowledge translation study

Developmental Medicine &Child Neurology, EarlyView.
The Hammersmith Infant Neurological Examination (HINE) can be successfully implemented in low‐resource tertiary care settings. Paediatric residents facilitated the implementation of HINE. Early detection of cerebral palsy and referral at an average age of 10.6 months in Ethiopia were achieved.
Selamenesh Tsige Legas, Atsede Teklehaimanot, Behaylu Yibe, Amber Makino, Rudaina Banihani, Amha Mekasha, Ayalew Moges, Asrat Demtse, Darcy Fehlings   +8 more
wiley   +1 more source

Exploring Theory of Mind abilities in patients with probable idiopathic normal pressure hydrocephalus

Journal of Neuropsychology, EarlyView.
Abstract This study investigated Theory of Mind (ToM) deficits in patients with suspected idiopathic normal pressure hydrocephalus (iNPH), a condition affecting motor, cognitive and autonomic functions. Given the overlap between ToM‐related neural networks and those affected in iNPH, we examined whether ToM impairments are a feature of the disease ...
Akrivi Vatsi, George Stranjalis, Stylianos Gkatzonis, Christos Koutsarnakis, Eleftherios Neromyliotis, Aristotelis Kalyvas, Ion N. Beratis, Evangelos Drosos, Spyridon Komaitis, Evangelia Liouta   +9 more
wiley   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Decrease of excessive daytime sleepiness after shunt treatment for normal pressure hydrocephalus

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Sleepiness and apathy are often reported in patients with normal pressure hydrocephalus. However, research on outcomes after shunt surgery has mainly focused on the classical triad symptoms, that is, gait, cognition, and bladder dysfunction. This study aimed to describe the effects of shunt treatment on excessive daytime sleepiness and whether ...
Simon Lidén, Anna Lindam, Dan Farahmand, Anne‐Marie Landtblom, Katarina Laurell   +4 more
wiley   +1 more source