Results 61 to 70 of about 148,938 (327)

Co-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study

Journal of Neurodevelopmental Disorders, 2021
Background The association between autism spectrum disorder and hydrocephalus is not well understood, despite demonstrated links between autism spectrum disorder and cerebrospinal fluid abnormalities. Based on the hypothesis that autism spectrum disorder
Tina Nørgaard Munch, Paula Louise Hedley, Christian Munch Hagen, Marie Bækvad-Hansen, Jonas Bybjerg-Grauholm, Jakob Grove, Merete Nordentoft, Anders Dupont Børglum, Preben Bo Mortensen, Thomas Mears Werge, Mads Melbye, David Michael Hougaard, Michael Christiansen   +12 more
doaj   +1 more source

Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localisation of polycystin-2 in vivo and in vitro [PDF]

, 2006
PKD2 is mutated in 15% of patients with autosomal dominant polycystic kidney disease (ADPKD). Polycystin-2 (PC2), the PKD2 protein, is a nonselective Ca2 + -permeable cation channel which may function at the cell surface and ER. Nevertheless, the factors
Kane, M.E., Moon, D.J., Obara, T., Ong, A.C.M., Streets, A.J.   +4 more
core   +2 more sources

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

The application of ultrasound in neuroendoscopic procedures: first results with the new tool »NECUP-2« [Upotreba ultrazvuka u neuroendoskopskim procedurama: prvi rezultati s novim uređajem »NECUP-2«] [PDF]

, 2011
In this paper, our experience with originally constructed Neurosurgical Endoscopic Contact Ultrasound Probe »NECUP-2« in neuroendoscopy is reported. Between June 1997 and June 2007, 132 neuroendoscopic procedures have been performed: 102 endoscopic thrid
Jednačak, Hrvoje, Klarica, Marijan, Miklić, Pavle, Mrak, Goran, Paladino, Josip, Vukić, Miroslav, Štimac, Tihomir   +6 more
core  

Intracranial tuberculous mass lesions treated with thalidomide in an immunocompetent child from a low tuberculosis endemic country: A case report [PDF]

, 2018
Rationale: Tuberculous meningitis is a highly morbid, often fatal disease. Patient concern: We describe a case of an Italian child. Diagnoses: we diagnosed early a Tuberculous meningitis complicated by the occurrence of hydrocephalus, stroke, and ...
Ajassa, Camilla, Caraffa, Emanuela, Ciardi, Maria Rosa, Lichtner, Miriam, Massetti, Anna Paola, Mastroianni, Claudio Maria, Russo, Gianluca, Vita, Serena, Vullo, Vincenzo   +8 more
core   +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

Total iron and Fe2+ concentration in cerebrospinal fluid are strongly correlated with the incidence of hydrocephalus in intracerebral hemorrhage patients with intraventricular extension

World Neurosurgery: X
Background: Hydrocephalus is a known complication of spontaneous intracerebral hemorrhage (ICH) extending into the cerebral ventricles (Intraventricular Hemorrhage, IVH) and is associated with poorer patient outcomes.
Petra Octavian Perdana Wahjoepramono, Aloysius Bagus Sasongko, Danny Halim, Kurnia Wahyudi, Achmad Adam, Yeo Tseng Tsai, Eka Julianta Wahjoepramono, Julius July, Tri Hanggono Achmad   +8 more
doaj   +1 more source

Communicating hydrocephalus due to cerebral venous sinus thrombosis treated with ventriculoperitoneal shunt

Annals of Indian Academy of Neurology, 2012
Cerebral venous sinus thrombosis (CVT) is a rare cerebrovascular disease with variable presentation. CVT rarely causes hydrocephalus. Communicating hydrocephalus due to CVT is extremely rare.
Rahul T Chakor, Sandeep Jakhere, Bhakti Yeragi Gavai, N S Santhosh   +3 more
doaj   +1 more source

Noradrenergic and cholinergic innervation of the normal human heart and changes associated with cardiomyopathy

The Anatomical Record, EarlyView.
Abstract Autonomic nerves are crucial in cardiac function and pathology. However, data on the distribution of cholinergic and noradrenergic nerves in normal and pathologic human hearts is lacking. Nonfailing donor hearts were pressure‐perfusion fixed, imaged, and dissected. Left ventricular cardiomyopathy samples were also obtained.
Peter Hanna, Donald B. Hoover, Logan G. Kirkland, Elizabeth H. Smith, Megan D. Poston, Stanley G. Peirce, Chloe G. Garbe, Tasha K. Phillips, Steven Cha, Shumpei Mori, Jaclyn A. Brennan, John Andrew Armour, Eric Rytkin, Igor R. Efimov, Olujimi A. Ajijola, Jeffrey L. Ardell, Kalyanam Shivkumar   +16 more
wiley   +1 more source