Results 51 to 60 of about 2,114 (168)

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services

Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 64, Issue 5, Page 467-474, October 2024.
Background Trio exome sequencing can be used to investigate congenital abnormalities identified on pregnancy ultrasound, but its use in an Australian context has not been assessed. Aims Assess clinical outcomes and changes in management after expedited genomic testing in the prenatal period to guide the development of a model for widespread ...
Alice Rogers, Lucas De Jong, Wendy Waters, Lesley H. Rawlings, Keryn Simons, Song Gao, Julien Soubrier, Rosalie Kenyon, Ming Lin, Rob King, David M. Lawrence, Peter Muller, Shannon Leblanc, Lesley McGregor, Suzanne C. E. H. Sallevelt, Jan Liebelt, Tristan S. E. Hardy, Janice M. Fletcher, Hamish S. Scott, Abhi Kulkarni, Christopher P. Barnett, Karin S. Kassahn   +21 more
wiley   +1 more source

Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype–phenotype relationship in RASopathies

Clinical Genetics, Volume 106, Issue 2, Page 199-203, August 2024.
RASopathies, caused by variants in Ras/MAPK pathways, include newly associated MAP4K4 gene disorders. This study details a Korean boy with a de novo MAP4K4 variant, presenting craniofacial dysmorphism, developmental delays, and syndromic craniosynostosis, expanding the known phenotypic spectrum and underscoring MAP4K4's impact on cranial suture ...
Jihoon G. Yoon, Jung Woo Yu, Kyu Won Shim, Yong Oock Kim, Min Goo Lee   +4 more
wiley   +1 more source

Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review

American Journal of Medical Genetics Part A, Volume 194, Issue 6, June 2024.
Abstract UPF3B encodes the Regulator of nonsense transcripts 3B protein, a core‐member of the nonsense‐mediated mRNA decay pathway, protecting the cells from the potentially deleterious actions of transcripts with premature termination codons. Hemizygous variants in the UPF3B gene cause a spectrum of neuropsychiatric issues including intellectual ...
Ferruccio Romano, Maria K. Haanpää, Pawel Pomianowski, Amanda Rose Peraino, John R. Pollard, Maria Francesca Di Feo, Monica Traverso, Mariasavina Severino, Maria Derchi, Edoardo Henzen, Federico Zara, Francesca Faravelli, Valeria Capra, Marcello Scala   +13 more
wiley   +1 more source

Endoscopic Treatment of Symptomatic Septum Pellucidum Cyst in an Adult Patient—Case Report and Technical Notes

Surgical Techniques Development
Background: Midline cysts of the brain are comprised of the following entities, septum pellucidum cysts, cavum vergae cysts and velum interpositum cysts.
Daniel Ilie Rotariu, Bogdan Florin Iliescu, Razvan Buga, Bogdan Costachescu   +3 more
doaj   +1 more source

Normal appearances and dimensions of the foetal cavum septi pellucidi and vergae on in utero MR imaging [PDF]

, 2020
Purpose The aim of this study is to provide normative data about the appearances and dimensions of the cavum septi pellucidi and vergae (CSPV) on in utero MR (iuMR) imaging in second and third trimester foetuses.
Jarvis, D., Griffiths, P.D.
core   +1 more source

Diagnóstico de cavum vergae durante el tercer trimestre de gestación

, 2016
Anterior midline intracranial cysts may be found in three forms: cavum septum pellucidum, cavum vergae, and cavum veli interpositi. Cavum vergae is an extension of the cavum septum pellucidum heading in a posterior direction, past the anterior pillars of
Navarro Briceño, Yolimar, Reyna Villasmil, Eduardo, Santos Bolívar, Joel   +2 more
core  

Cerebrospinal fluid dynamics of the cava septi pellucidi and vergae - Case report

, 2001
This case involved a 26-month-old boy who had recurrent hemorrhagic venous infarction caused by venous sinus occlusion. Distension and enlargement of the cavum septi pellucidi (CSP) and cavum vergae (CV), along with hydrocephalus, was detected during the
Sencer, S, Devecioglu, O, Turantan, I, Sencer, A, Altay Sencer, Ömer Devecioğlu, İnan Turantan, Serra Sencer   +7 more
core   +1 more source

Cavum Septum Pellucidum and Cavum Vergae With Late-Onset Catatonia

, 2015
Associations between large cavum septum pellucidum and functional psychosis disorders, especially schizophrenia, have been reported. We report a case of late-onset catatonia associated with enlarged CSP and cavum vergae. A 66-year-old woman was presented
Hanihara, Tokiji, Washizuka, Shinsuke, Yasaki, Takehiko, Takahashi, Tohru, Takahashi, Yuka, Amano, Naoji   +5 more
core  

Conventional MRI Brain Imaging Findings in Children with Attention-deficit/Hyperactivity Disorder (ADHD): A Retrospective Analysis

Apollo Medicine
Background and Objectives: Attention-deficit/hyperactivity disorder (ADHD) is coupled with subtle variations in fronto-striato-cerebellar brain circuits.
Tamilselvan T, Aishwarya B
doaj   +1 more source

Treatment-resistant childhood-onset schizophrenia and abnormally enlarged cavum septum pellucidum combined with cavum vergae: case report and literature review

, 2011
The treatment of refractory schizophrenia has been a clinical challenge for most psychiatrists. The possible mechanism of the refractory schizophrenia included diagnostic errors, medical conditions and brain dysgensis.
Z.-L. Liao, S.-H. Hu, Y. Xu, M.-M. Zhang
core   +1 more source