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1

The International Tethered Cord Partnership: Beginnings, process, and status  

UK PubMed Central (United Kingdom)

Background:Spina bifida presents a significant cause of childhood morbidity in lower- and middle-income nations. Unfortunately, there is a paucity of literature examining...Full Text Available

2

Nonverbal Learning Disability explained: the link to shunted hydrocephalus  

British Library Electronic Table of Contents (United Kingdom)

Accessible summary - -Children with a Nonverbal Learning Disability (NLD) resulting from shunted hydrocephalus and spina bifida face many difficulties not experienced by those with a language learning disability. - -As they grow older and more autonomy is expected, friendships became harder to sustain and daily life can be full of fear if the nonverbal learning disability is not identified and managed. - -This paper explains the theorised cause of nonverbal learning disability - damage to right hemisphere white matter or myelin. - -Damage is believed to cause problems with planning, organisation, time management, problem-solving, decision-making and friendships, and the mismatch with articulate speech and a good vocabulary causes a functional profile that is difficult for educationists or ...

2011-01-01

3

Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis.  

Science.gov (United States)

N-ethyl-N-nitrosourea (ENU) mutagenesis has led to the elucidation of several regulator genes for melanocyte and skin development. Here we characterized a mutant from ENU mutagenesis with similar phenotype as that of Splotch mutant, including exencephaly, spina bifida and abnormal limbs in homozygotes as well as white belly spotting and occasionally loop-tail in heterozygotes. This novel mutant was named as Sp(xG). Through genome-wide linkage analysis in backcross progenies with microsatellite markers, the Sp(xG) was confined to a region between D1MIT415 and D1MIT7 on chromosome 1, where notable Pax3 gene was located. Direct sequencing revealed that Sp(xG) carried a nucleotide A894G missense transition in exon 6 of Pax3 gene that resulted in Asn to Asp substitution at amino acid 269 within the highly-conserved homeodomain (HD) DNA recognition module, which was the first point mutation found in this domain in mice. This N269D mutation impaired the transactivation ...

2011-07-19

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5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects  

Science.gov (United States)

Persons with a thermolabile form of the enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) have reduced enzyme activity and increased plasma homocysteine which can be lowered by supplemental folic acid. Thermolability of the enzyme has recently been shown to be caused by a common mutation (677C{sup {r_arrow}}T) in the MTHFR gene. We studied 41 fibroblast cultures from NTD-affected fetuses and compared their genotypes with those of 109 blood specimens from individuals in the general population. 677C{sup {r_arrow}}T homozygosity was associated with a 7.2 fold increased risk for NTDs (95% confidence interval: 1.8-30.3; p value: 0.001). These preliminary data suggest that the 677C{sup {r_arrow}}T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD. 13 refs., 1 fig., 1 tab.

1996-06-28