Results 141 to 150 of about 4,351,134 (406)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa +3 more
wiley +1 more source
Linfield Graduate Joins NASA Research Team [PDF]
, 2015 Humanitarian, explorer and Wall Street businessman Scott Hamilton ’77 has ventured to the tops of the world’s tallest mountains. His most recent endeavor looks even farther to the skies.
Gerke, Morgan, \u2716
core +1 more source
Pneumoventricle of Unknown Origin. A Personal Experience and Literature Review of a Clinical Enigma [PDF]
, 2019 Pneumocephalus (PC) is an uncommon and life-threatening neurological condition. Air within the ventricular system of the brain is also known as Pneumoventricle (PV). It requires emergency treatments to prevent catastrophic neurological outcomes.
Armocida, Daniele +5 more
core +1 more source
Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli +13 more
wiley +1 more source
Life's Essential 8 and midlife trajectories in cognition and brain health: The CARDIA study
Alzheimer's &Dementia, EarlyView.Abstract INTRODUCTION Poor cardiovascular health (CVH) is linked to Alzheimer's disease and dementia; however, its association with neurocognitive trajectories earlier in life remains underexplored. METHODS We included 3224 participants with information on CVH at early midlife (mean age 45.0 ± standard deviation 3.4) an cognitive assessments, and ...
Christina Silvia Dintica +4 more
wiley +1 more source
arXiv, 2016 Brain swelling is a serious condition associated with an accumulation of fluid inside the brain that can be caused by trauma, stroke, infection, or tumors. It increases the pressure inside the skull and reduces blood and oxygen supply. To relieve the intracranial pressure, neurosurgeons remove part of the skull and allow the swollen brain to bulge ...
arxiv
The cerebrovascular effects of adrenaline, noradrenaline and dopamine infusions under propofol and isoflurane anaesthesia in sheep [PDF]
, 2002 Publisher's copy made available with the permission of the publisher © Australian Society of AnaesthetistsInfusions of catecholamines are frequently administered to patients receiving propofol or isoflurane anaesthesia.
Fortin D. +5 more
core +2 more sources
Annals of Neurology, EarlyView.Objectives Intravenous thrombolysis (IVT) is contraindicated for acute ischemic stroke (AIS) patients taking direct oral anticoagulants (DOACs) within 48 hours before index stroke. Limited data exist on off‐label use of IVT for these patients. We compared the safety and outcomes of IVT in AIS patients with DOAC treatment and patients with no OAC before
Marius Matusevicius +11 more
wiley +1 more source
Worsening of cerebral hyperemia by the administration of terlipressin in acute liver failure with severe hepatic encephalopathy [PDF]
, 2004 There is increasing evidence that terlipressin is useful in patients with cirrhosis and hepatorenal syndrome, but there are no data of its use in patients with acute liver failure (ALF) in whom hepatorenal syndrome is common.
Davies, N.A. +6 more
core
Annals of Neurology, EarlyView.At low levels of B12, specifically when bound to transcobalamin for cellular uptake, evidence of slower conductivity in the brain could point toward impaired myelin. At high levels of B12, specifically when bound to the biologically inert transport protein haptocorrin, biomarkers of neurodegeneration appear in the serum, indicating neuroaxonal injury ...
Alexandra Beaudry‐Richard +22 more
wiley +1 more source