Results 161 to 170 of about 199,619 (340)

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

Clinical Genetics, EarlyView.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis, Afrodite Kampouraki, Danai Veltra, Faidon‐Nikolaos Tilemis, Maria Vasilopoulou, Aikaterini Dokou, Elissavet Georgiadou, Euthalia Karavergou, Maria Christolouka, Alexis Alexopoulos, Dimitra Kirillidi, Maria Goudesidou, Konstantina Kosma, Christalena Sofocleous, Periklis Makrythanasis   +14 more
wiley   +1 more source

The Boy Who Grew a New Brain: Understanding this Miracle from a Neuro-Quantum Perspective [PDF]

, 2018
In this paper, we present a case of a boy – Noah Wall, who till today surprises the world of neuroscience with his will to grow his brain and survive.
Pereira, Contzen, Reddy, Jumpal Shashi Kiran   +1 more
core  

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Evaluation of Knowledge, Attitudes, and Practices towards Vaccination among Patients with Spina Bifida in Ukraine

Сучасна педіатрія: Україна
Patients with spina bifida (SB) face an increased risk of infection due to frequent exposure to medical procedures and visits to healthcare centers, including rehabilitation centers.
O.R. Boyarchuk, M.V. Koshmaniuk, R.O. Kovalenko   +2 more
doaj   +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

The clinical application and nursing experience of adjustable shunt valve in treatment for patients with normal pressure hydrocephalus

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Objective To introduce the application of adjustable shunt valve in treatment for patients with normal pressure hydrocephalus. Methods Twenty ⁃ four patients with normal pressure hydrocephalus implanted adjustable shunt valve underwent ventriculo ...
Li⁃rong YANG, Peng SUO, Jing WANG, Yuan YAO, De⁃zhen LI   +4 more
doaj  

Genetic and molecular mechanisms of hydrocephalus

Frontiers in Molecular Neuroscience
Hydrocephalus is a neurological condition caused by aberrant circulation and/or obstructed cerebrospinal fluid (CSF) flow after cerebral ventricle abnormal dilatation.
Xuehai Deng, Xuehai Deng, Yiqian Chen, Yiqian Chen, Qiyue Duan, Qiyue Duan, Jianlin Ding, Jianlin Ding, Zhong Wang, Zhong Wang, Junchi Wang, Xinlong Chen, Liangxue Zhou, Long Zhao   +13 more
doaj   +1 more source

Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis [PDF]

, 2011
We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia.
Lopes, P, Silva, R, Vieira, JP
core  

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

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