scholarly journals Addressing a Folate Imbalance in Fetal Cerebrospinal Fluid Can Decrease the Incidence of Congenital Hydrocephalus

2009 ◽  
Vol 68 (4) ◽  
pp. 404-416 ◽  
Author(s):  
Sarah Cains ◽  
Andrew Shepherd ◽  
Mohammad Nabiuni ◽  
Penelope Jane Owen-Lynch ◽  
Jaleel Miyan
1980 ◽  
Vol 52 (1) ◽  
pp. 126-128 ◽  
Author(s):  
Gerald R. Greene ◽  
Catherine Mc Ninch ◽  
Eldon L. Foltz

✓ A 7-year-old boy with congenital hydrocephalus and a left septate cerebral cyst presented with a shunt infection due to Micrococcus sedentarius, resistant to all penicillins. The shunt infection was persistent despite several courses of parenteral, intraventricular, and intracyst antibiotics. Evaluation of the ventricular fluid revealed adequate “killing power” against the patient's microorganism. No extracranial focus of infection could be found. Computerized tomographic scanning, along with air ventriculography, identified a noncommunicating area of the cerebral cyst. Only when communication between this location and the rest of the cyst was established were the antibiotics efficacious. Undercirculated areas of cerebrospinal fluid should be sought when shunt infections and ventriculitis persist in spite of adequate parenteral and local therapy in patients with brain cysts.


2014 ◽  
Vol 34 (8) ◽  
pp. 640-641
Author(s):  
C V Lal ◽  
I N Mir ◽  
E Kelley ◽  
B E Weprin ◽  
A L Sengupta ◽  
...  

2007 ◽  
Vol 19 (1) ◽  
pp. 226
Author(s):  
Y. Shioya ◽  
T. Suzuki ◽  
Y. Sato ◽  
Y. Yoshikawa ◽  
Y. Hosokawa ◽  
...  

Hydrocephalus is a congenital defect of cattle. Births of Japanese Black calves with forehead doming were reported in Tohoku District from 1988 to 1989. The common finding on autopsy was the presence of excessive amounts of cerebrospinal fluid with expanding lateral ventricles without evidence of microbiologic infection. Breeding records for pedigree registration have been maintained by the Wagyu Registry Association in this area since 1960. A survey of the pedigrees suggested that an autosomal recessive gene might be responsible for the defect. The incidence of doming calves ceased by an advised mating system which excluded the suspected sires after 1990. Molecular genetics is useful for disclosing DNA sequences of a recessive gene and for detecting the carriers of the gene. This trial was conducted to produce congenital hydrocephalus calves for gene analysis using embryo transfer on a small number of the remaining cows that gave birth to affected calves over 10 years ago. One donor cow, 11 years old, was superovulated with 24 to 25 AU of FSH (Antrin; Kawasaki Mitaka K.K., Kawasaki, Japan) and inseminated with frozen semen of a suspected bull. Collected embryos were transferred on the day of the collection and the rest of them were frozen and transferred later. Superstimulation was repeated 4 times in this cow at an interval of 76-105 days during and 8-month period. A total of 4, 13, 17, and 18 embryos of good quality were collected. Eighteen fresh embryos were transferred into 7 (2 embryos each) and 4 (single embryo) recipients. Frozen embryos were transferred into 6 recipients (single embryo). Seven of 17 recipients became pregnant and gave birth to 8 calves. Three of 6 male calves born and one of 2 females showed symptoms of hydrocephalus. Clinically, 3 of the affected calves had a domed forehead and squint-eyes and were unable to stand. One calf underwent a fatal convulsion and ataxia 29 days after birth. Pathological findings of affected calves showed dilated bilateral ventricles with increased cerebrospinal fluid as typical lesions of hydrocephalus. Embryo transfer was demonstrated to be a useful tool for investigation of a potentially heritable disease. Gene scanning with microsatellite markers using the tissues from the calves and the related cattle was done. The suspected gene was found near the centromere of chromosome 3 (BTA3). It was possible to diagnose the mutant-carrier cattle using two DNA markers, INRA006 (17.0 cm) and BL41 (43.2 cm).


2015 ◽  
Vol 12 (Suppl 1) ◽  
pp. P15
Author(s):  
Gakwaya Habiyaremye ◽  
Diego M Morales ◽  
Clint D Morgan ◽  
James P McAllister ◽  
David D Limbrick

2020 ◽  
Author(s):  
Huixin Xu ◽  
Ryann M Fame ◽  
Cameron Sadegh ◽  
Jason Sutin ◽  
Christopher Naranjo ◽  
...  

ABSTRACTCerebrospinal fluid (CSF) provides vital support for the brain. Abnormal CSF accumulation is deleterious for perinatal neurodevelopment, but how CSF leaves the brain during this critical period is unknown. We found in mice a postnatal neurodevelopmental transition phase featuring precipitous CSF K+ clearance, accompanied by water, through the choroid plexus (ChP). The period corresponds to a human fetal stage when canonical CSF clearance pathways have yet to form and congenital hydrocephalus begins to manifest. Unbiased ChP metabolic and ribosomal profiling highlighted this transition phase with increased ATP yield and activated energy-dependent K+ transporters, in particular the Na+-K+-Cl− and water cotransporter NKCC1. ChP-targeted NKCC1 overexpression enhanced K+-driven CSF clearance and enabled more permissive cerebral hydrodynamics. Moreover, ventriculomegaly in an obstructive hydrocephalus model was improved by ChP-targeted NKCC1 overexpression. Collectively, we identified K+-driven CSF clearance through ChP during a transient but critical neurodevelopmental phase, with translational value for pathologic conditions.


2021 ◽  
pp. 0271678X2110396
Author(s):  
Alicia Requena-Jimenez ◽  
Mohammad Nabiuni ◽  
Jaleel A Miyan

The aetiology of congenital hydrocephalus (cHC) has yet to be resolved. cHC manifests late in rodent gestation, and by 18–22 weeks in human fetuses, coinciding with the start of the major phase of cerebral cortex development. Previously we found that cerebrospinal fluid (CSF) accumulation is associated with compositional changes, folate metabolic impairment and consequential arrest in cortical development. Here, we report a proteomics study on hydrocephalic and normal rat CSF using LC-MSMS and a metabolic pathway analysis to determine the major changes in metabolic and signalling pathways. Non-targeted analysis revealed a proteome transformation across embryonic days 17–20, with the largest changes between day 19 and 20. This provides evidence for a physiological shift in CSF composition and identifies some of the molecular mechanisms unleashed during the onset of cHC. Top molecular regulators that may control the shift in the CSF metabolic signature are also predicted, with potential key biomarkers proposed for early detection of these changes that might be used to develop targeted early therapies for this condition. This study confirms previous findings of a folate metabolic imbalance as well as providing more in depth metabolic analysis and understanding of cHC CSF.


Development ◽  
1974 ◽  
Vol 31 (1) ◽  
pp. 207-222
Author(s):  
H. Grüneberg ◽  
G. A. De S. Wickramaratne

The development of two skeletal mutants in the mouse has been re-investigated. In vestigial-tail (vt), a simple syndrome is traceable to an anomaly of the primitive streak. In congenital hydrocephalus (ch), the complicated events have been followed to a level at which the most fundamental gene action detected (or, more accurately, postulated) is no longer demonstrable by conventional histological methods. It involves the mesenchyme and some of its direct derivatives (meninges, skeletal blastemata, mesonephros), but also organs of different origin (nasal glands, ureteric bud, certain ganglia) for which the mesenchyme is the environment. Failure of the meningeal mesenchyme to form the subarachnoid drainage system for the cerebrospinal fluid leads to hydrocephalus which, by essentially mechanical means, is responsible for a multitude of subordinated effects.


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