Results 71 to 80 of about 19,786 (264)
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Acute obstructive hydrocephalus in posterior reversible encephalopathy syndrome
South African Medical Journal, 2022 Posterior reversible encephalopathy syndrome (PRES) is an uncommon, subacute neurological disorder that presents radiologically with a pattern of bilateral parieto-occipital areas of vasogenic oedema.
J Hiesgen, T N Annor
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Adherent junctions: Physiology, role in hydrocephalus and potential therapeutic targets
IBRO Neuroscience ReportsIn all epithelial cells, the adherent junctions (AJs) with cadherin as the core play an important role in the maintenance of the connection and the formation of apical-basal polarity. The ependymal cells close to the ventricular system rely on AJs with N-
Zhiye Chen +13 more
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Clinical Medicine Insights: Case Reports, 2012 Introduction Pituitary tumors from lactotrope cells account for about 40% of all functioning pituitary cancers. Men tend to present with a larger, more invasive and rapid growth prolactinomas than women, possibly because hypogonadism features are less ...
Shadin Alkatari, Naji Aljohani
doaj +1 more source
Hidden aqueductal stenosis associated to bilateral idiopathic foramina of Monro stenosis mimicking a Chiari I malformation? Case report [PDF]
, 2018 A 39-year old man came to our outpatient clinic with long history of unspecific symptoms and signs. Cerebral MRI showed herniation of the cerebellar tonsils of more than 1cm below the foramen magnum and a triventricular hydrocephalus.
Bartoli, Andrea +3 more
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Ultrasound in Obstetrics &Gynecology, EarlyView.ABSTRACT Objective Myelomeningocele (MMC) is associated with significant alterations of the brain microstructure, which can impair long‐term neurodevelopmental outcomes. By measuring the random displacement of water molecules within the brain, magnetic resonance imaging (MRI)‐based diffusion‐weighted imaging (DWI) can provide objective metrics, such as
R. Corroenne +10 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2023 Background Primary ciliary dyskinesia (PCD) is a type of ciliary dyskinesia that is usually caused by autosomal recessive inheritance and can manifest as recurrent respiratory infections, bronchiectasis, infertility, laterality defects, and chronic ...
Shiyang Gao +9 more
doaj +1 more source
A CFD and FEM Approach to a Multicompartmental Poroelastic Model for CSF Production and Circulation with Applicationsin Hydrocephalus Treatment and Cerebral Oedema [PDF]
, 2014 This paper was presented at the 4th Micro and Nano Flows Conference (MNF2014), which was held at University College, London, UK. The conference was organised by Brunel University and supported by the Italian Union of Thermofluiddynamics, IPEM, the ...
4th Micro and Nano Flows Conference (MNF2014) +4 more
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Clinical, Pathological, and Surgical Outcomes for Adult Pineoblastomas [PDF]
, 2015 Introduction Pineoblastomas are uncommon primitive neuroectodermal tumors that occur mostly in children; they are exceedingly rare in adults.
Ariai, Mohammad S. +8 more
core +2 more sources