Results 31 to 40 of about 182,556 (397)

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality

Human Mutation, Volume 43, Issue 12, Page 2205-2221, December 2022., 2022
Mutation frequency heat map of spontaneous PTPN11 variants show spatial clustering in the testis due to germline selection explaining the high birth incidence of Noonan syndrome. Some somatic PTPN11 cancer mutations are similarly clustered in testis. Abstract Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal ...
Jordan Eboreime, Soo‐Kyung Choi, Song‐Ro Yoon, Anastasiia Sadybekov, Vsevolod Katritch, Peter Calabrese, Norman Arnheim   +6 more
wiley   +1 more source

Fluid Distribution Pattern in Adult-Onset Congenital, Idiopathic, and Secondary Normal-Pressure Hydrocephalus: Implications for Clinical Care

Frontiers in Neurology, 2017
ObjectiveIn spite of growing evidence of idiopathic normal-pressure hydrocephalus (NPH), a viewpoint about clinical care for idiopathic NPH is still controversial.
Shigeki Yamada, Masatsune Ishikawa, Kazuo Yamamoto   +2 more
doaj   +1 more source

A Poisson Kalman filter for disease surveillance [PDF]

Phys. Rev. Research 2, 043028 (2020), 2020
An optimal filter for Poisson observations is developed as a variant of the traditional Kalman filter. Poisson distributions are characteristic of infectious diseases, which model the number of patients recorded as presenting each day to a health care system. We develop both a linear and nonlinear (extended) filter.
arxiv   +1 more source

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses [PDF]

, 2015
Background: Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population.
Back, Willem, Bastiaansen, John WM, Boegheim, Iris JM, Dibbits, Bert W, Ducro, Bart J, Hellinga, Ids, Leegwater, Peter AJ, Monroe, Glen R, Nijman, Isaac J, Schurink, Anouk, van Steenbeek, Frank G, Vos-Loohuis, Manon   +11 more
core   +3 more sources

Posthemorrhagic hydrocephalus development after germinal matrix hemorrhage: Established mechanisms and proposed pathways

Journal of Neuroscience Research, 2020
In addition to being the leading cause of morbidity and mortality in premature infants, germinal matrix hemorrhage (GMH) is also the leading cause of acquired infantile hydrocephalus. The pathophysiology of posthemorrhagic hydrocephalus (PHH) development
Damon W. Klebe, D. McBride, Paul R. Krafft, Jerry J Flores, Jiping Tang, John H. Zhang   +5 more
semanticscholar   +1 more source

Conceptualizing, defining, and assessing pragmatic language impairment in clinical settings: A scoping review

Infant and Child Development, Volume 31, Issue 6, November/December 2022., 2022
Abstract There has been significant and extensive knowledge production in the last four decades regarding pragmatic language impairment (PLI) in children with neurodevelopmental disorders. The evidence contained in this literature, however, is contradictory. The present scoping review (ScR) seeks to disentangle competing explanations of conceptualizing,
Ahmed Alduais, Marinella Majorano, Clara Andrés‐Roqueta, Patricia Hamaguchi, Valentina Persici, Fawaz Qasem   +5 more
wiley   +1 more source

Investigating the Knowledge Surrounding Folate and Folic Acid in a Cohort of Vegetarians

SURE Journal: (Science Undergraduate Research Experience Journal), 2019
BackgroundThe aim is to identify any gaps in the knowledge of folate and folic acid in vegetarians, which is of interest given the increasing adoption of vegetarian type diets.
Michael Dolan, Katherine Younger, Lucy Brennan, Jessica Roche   +3 more
doaj   +1 more source

Environmental exposure of the general population to cadmium as a risk factor of the damage to the nervous system: A critical review of current data

Journal of Applied Toxicology, Volume 43, Issue 1, Page 66-88, January 2023., 2023
Abstract Nowadays, more and more attention has been focused on the risk of the neurotoxic action of cadmium (Cd) under environmental exposure. Due to the growing incidence of nervous system diseases, including neurodegenerative changes, and suggested involvement of Cd in their aetiopathogenesis, this review aimed to discuss critically this element ...
Agnieszka Ruczaj, Małgorzata M. Brzóska   +1 more
wiley   +1 more source

Glymphatic MRI in idiopathic normal pressure hydrocephalus

Brain : a journal of neurology, 2017
The glymphatic system has been shown in animal studies to support the clearance of waste metabolites from the brain interstitial space. Using MRI, Ringstad et al. visualize the glymphatic system for the first time in humans. Glymphatic clearance is sleep-
G. Ringstad, S. Vatnehol, P. Eide
semanticscholar   +1 more source

New experimental model of acute aqueductal blockage in cats: effects on cerebrospinal fluid pressure and the size of brain ventricles [PDF]

, 2009
It is generally assumed that cerebrospinal fluid (CSF) is secreted in the brain ventricles, and so after an acute blockage of the aqueduct of Sylvius an increase in the ventricular CSF pressure and dilation of isolated ventricles may be expected. We have
Božić, Borka, Bulat, Marin, Butković, Vjera, Klarica, Marijan, Orešković, Darko, Vukić, Miroslav   +5 more
core   +1 more source