Analysis of early neonatal case fatality rate among newborns with congenital hydrocephalus, a 2000–2014 multi‐country registry‐based study
Sign Up to like & getrecommendations! Published in 2022 at "Birth Defects Research"
DOI: 10.1002/bdr2.2045
Abstract: Congenital hydrocephalus (CH) comprises a heterogeneous group of birth anomalies with a wide‐ranging prevalence across geographic regions and registry type. The aim of the present study was to analyze the early neonatal case fatality rate… read more here.
Keywords: fatality rate; neonatal case; early neonatal; case fatality ... See more keywords
Fetal therapy for congenital hydrocephalus—where we came from and where we are going
Sign Up to like & getrecommendations! Published in 2020 at "Child's Nervous System"
DOI: 10.1007/s00381-020-04738-9
Abstract: Despite unfavorable outcomes during the early experience with in utero intervention for congenital hydrocephalus, improvements in prenatal diagnosis, patient selection, and fetal surgery techniques have led to a renewed interest in fetal intervention for congenital… read more here.
Keywords: congenital hydrocephalus; therapy congenital; fetal therapy; hydrocephalus came ... See more keywords
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
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DOI: 10.1016/j.neuron.2018.06.019
Abstract: Congenital hydrocephalus (CH), featuring markedly enlarged brain ventricles, is thought to arise from failed cerebrospinal fluid (CSF) homeostasis and is treated with lifelong surgical CSF shunting with substantial morbidity. CH pathogenesis is poorly understood. Exome sequencing… read more here.
Keywords: congenital hydrocephalus; stem cell; cell fate; neural stem ... See more keywords
Expression Profiles of Exosomal MicroRNAs Derived from Cerebrospinal Fluid in Patients with Congenital Hydrocephalus Determined by MicroRNA Sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Disease Markers"
DOI: 10.1155/2022/5344508
Abstract: Purpose Congenital hydrocephalus is one of the most common birth defects worldwide. Exosomal microRNAs (miRNAs) in body fluids have been implicated in many diseases. However, their involvement in cerebrospinal fluid from congenital hydrocephalus is not… read more here.
Keywords: exosomal micrornas; cerebrospinal fluid; hydrocephalus; congenital hydrocephalus ... See more keywords
Gain-of-function mutations in Trim71 linked to congenital hydrocephalus
Sign Up to like & getrecommendations! Published in 2023 at "PLOS Biology"
DOI: 10.1371/journal.pbio.3001993
Abstract: The genetic basis of congenital hydrocephalus is only partially understood. A new study in PLOS Biology reports a potential gain-of-function pathological mechanism of congenital hydrocephalus in mouse embryonic stem cells that involves Wnt–β-catenin signaling pathway… read more here.
Keywords: gain function; function mutations; biology; congenital hydrocephalus ... See more keywords
A congenital hydrocephalus‐causing mutation in Trim71 induces stem cell defects via inhibiting Lsd1 mRNA translation
Sign Up to like & getrecommendations! Published in 2022 at "EMBO reports"
DOI: 10.15252/embr.202255843
Abstract: Congenital hydrocephalus (CH) is a major cause of childhood morbidity. Mono‐allelic mutations in Trim71, a conserved stem‐cell‐specific RNA‐binding protein, cause CH; however, the molecular basis for pathogenesis mediated by these mutations remains unknown. Here, using… read more here.
Keywords: cell; stem cell; trim71; congenital hydrocephalus ... See more keywords
Dental Care for a Child with Congenital Hydrocephalus: A Case Report with 12-Month Follow-Up
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Environmental Research and Public Health"
DOI: 10.3390/ijerph18031209
Abstract: Hydrocephalus affects the central nervous system as a result of progressive ventricular dilatation from the accumulation of cerebrospinal fluid in the brain’s lateral ventricles. This paper reports on the oral characteristics of a child with… read more here.
Keywords: congenital hydrocephalus; dental care; care child; case ... See more keywords
Congenital Hydrocephalus: Gómez-López-Hernández syndrome. An underdiagnosed Syndrome. A clinical case.
Sign Up to like & getrecommendations! Published in 2018 at "Revista chilena de pediatria"
DOI: 10.4067/s0370-41062018000100092
Abstract: INTRODUCTION Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic)… read more here.
Keywords: congenital hydrocephalus; clinical case; pez hern; mez pez ... See more keywords