Results 21 to 30 of about 151,172 (245)

Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice. [PDF]

, 2015
Glycine decarboxylase (GLDC) acts in the glycine cleavage system to decarboxylate glycine and transfer a one-carbon unit into folate one-carbon metabolism. GLDC mutations cause a rare recessive disease non-ketotic hyperglycinemia (NKH).
Brosnan, JT, Brosnan, ME, Copp, AJ, Greene, ND, Heales, S, Hutchin, T, Leung, KY, Pai, YJ, Prunty, H, Savery, D   +9 more
core   +1 more source

Syndromic Hydrocephalus

Neurosurgery Clinics of North America, 2022
Hydrocephalus, the abnormal accumulation and impaired circulation/clearance of cerebrospinal fluid, occurs as a common phenotypic feature of a diverse group of genetic syndromes. In this review, we outline the genetic mutations, pathogenesis, and accompanying symptoms underlying syndromic hydrocephalus in the context of: L1 syndrome, syndromic ...
Kaamya, Varagur, Sai Anusha, Sanka, Jennifer M, Strahle   +2 more
openaire   +2 more sources

Causes, classification, diagnostics and treatment of hydrocephalus [PDF]

Biomedicinska istraživanja, 2019
Hydrocephalus is a hydrodynamic disorder of the cerebrospinal cortex causing an enlargement of the ventricular system and increased pressure around the brain. Hydrocephalus can be divided into congenital and acquired, and, based on occurrence mechanism,
Vjeran Saratlić, Vesna Ivanišević
doaj   +1 more source

Outcome of Lumbar Drain in Delayed Communicating Hydrocephalus Secondary to Traumatic and Aneurysmal Subarachnoid Hemorrhage

Nepal Journal of Neuroscience, 2020
Introduction: Delayed hydrocephalus is one of the common complications in traumatic subarachnoid hemorrhage and post aneurysmal subarachnoid hemorrhage. This study aims to study the role of lumbar drain in its management.
Yam Bahadur Roka
doaj   +1 more source

Characterization of lower urinary tract symptoms in patients with idiopathic normal pressure hydrocephalus [PDF]

, 2017
AIMS: The purpose of this study was to evaluate lower urinary tract symptoms (LUTS) in idiopathic normal pressure hydrocephalus (iNPH). METHODS: Patients with new-onset iNPH were prospectively evaluated for LUTS via detailed history and physical, and ...
Ahlberg, Berardelli, Bergsneider, Black, Campos-Juanatey, Carreiro-Martins, Hajian-Tilaki, Hakim, Jaraj, John, Jonas, Kazui, Khan, Lee, Maral, Marmarou, Marmarou, Meier, Mitteness, Pinto, Reddy, Relkin, Sakakibara, Sakakibara, Toma, Tsakanikas   +25 more
core   +2 more sources

Plasma and cerebrospinal fluid concentrations of neurofilament light protein correlate in patients with idiopathic normal pressure hydrocephalus

Fluids and Barriers of the CNS, 2023
Background Neurofilament light chain protein (NFL), a marker of neuronal axonal degeneration, is increased in cerebrospinal fluid (CSF) of patients with idiopathic normal pressure hydrocephalus (iNPH).
A. Jeppsson, Å. Sandelius, A. Zettergren, S. Kern, I. Skoog, K. Blennow, H. Zetterberg, C. Wikkelsø, P. Hellström, M. Tullberg   +9 more
doaj   +1 more source

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

Molecular Mechanisms and Risk Factors for the Pathogenesis of Hydrocephalus

Frontiers in Genetics, 2022
Hydrocephalus is a neurological condition due to the aberrant circulation and/or obstruction of cerebrospinal fluid (CSF) flow with consequent enlargement of cerebral ventricular cavities.
Jingwen Li, Xinjie Zhang, Jian Guo, Chen Yu, Jun Yang   +4 more
doaj   +1 more source

Complex hydrocephalus (combination of communicating and obstructive type): an important cause of failed endoscopic third ventriculostomy

BMC Research Notes, 2009
Background Hydrocephalus can be classified as purely obstructive, purely communicating or due to combinations of pathologies (obstruction in addition to defective absorption).
Parihar Vijay, Mukerji Gaurav, Yadav Yad, Sinha Mallika, Pandey Sanjay   +4 more
doaj   +1 more source

Aquaporin-4 and brain edema. [PDF]

, 2007
Aquaporin-4 (AQP4) is a water-channel protein expressed strongly in the brain, predominantly in astrocyte foot processes at the borders between the brain parenchyma and major fluid compartments, including cerebrospinal fluid (CSF) and blood.
A Lehmenkuhler, Alan S. Verkman, AS Verkman, AS Verkman, D Wenzel, DK Binder, DK Binder, DK Binder, DS Prough, GT Manley, H Wen, HJ Reulen, HK Kimelberg, I Klatzo, I Roberts, J Badaut, J Hu, J Li, J Li, JE Rash, JE Rash, K Oshio, KI Auguste, M Amiry-Moghaddam, M Amiry-Moghaddam, M Elkjaer, Marios C. Papadopoulos, MC Papadopoulos, MC Papadopoulos, MC Papadopoulos, NR Saunders, O Bloch, P Agre, P Padmawar, PM Rodier, S Nielsen, S Saadoun, S Saadoun, T Ma   +38 more
core   +2 more sources