Results 101 to 110 of about 517,077 (303)
A unifying device–cardiovascular interface framework is presented to classify implantable cardiovascular technologies as intracardiovascular blood‐contacting systems or extracardiovascular tissue‐only and blood‐handling architectures. Cross‐class comparison across shared semiquantitative criteria, including blood‐contact burden, biomimicry ...
Bergo Nicolò +7 more
wiley +1 more source
Introduction: Ventriculoperitoneal (VP) shunts divert cerebrospinal fluid (CSF) out of cerebral ventricles in patients with hydrocephalus or elevated intracranial pressure (ICP). Despite high failure rates, there exist limited clinically viable solutions
David A. Zarrin +3 more
doaj +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
Unilateral congenital hydrocephalus due to obstruction of the foramen of Monro
Unilateral hydrocephalus is an infrequent malformation that is produced by occlusion of one of the foramens of Monro. The symptomatology is not very florid and the neuroendoscopic treatment is the gold standard to be used. This study presents the case of
Yanmara Betharte-Sotomayor +2 more
doaj
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
TTC21B: From Modifier to Causative Gene in Joubert Syndrome
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri +5 more
wiley +1 more source
Intracranial pressure (ICP) monitoring serves as a critical component in the management of neurocritical care patients. Hydraulic-coupled intracranial pressure monitoring via external ventricular drainage (EVD-ICP) monitoring offers a clinically ...
Chinese Neurosurgical Intensive Care Management Collaborative Group +3 more
doaj +1 more source
Hydrocephalus is a cerebral disease where brain ventricles enlarge and compress the brain parenchyma towards the skull leading to symptoms like dementia, walking disorder and incontinence. The origin of normal pressure hydrocephalus is still obscure.
K. Shahim +4 more
doaj +1 more source
Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer +4 more
wiley +1 more source
This paper aims to evaluate the effect of minimally invasive puncture external ventricular drainage (EVD) combined with early lumbar drainage (LD) for clearance of hematoma in the third and fourh ventricles in patients with intraventricular hemorrhage
Jian YU +4 more
doaj

