Twins: Black and White
Prenatal DiagnosisPublished 1 June 1980
R. T. Osborne
Citations72
SJR quartileQ1
SJR score0.93
SNIP1.18
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TL;DR
Microvillus inclusion disease (MVID) characterizes as intractable life‐threatening watery diarrhea malnutrition after birth.
Abstract
Here we describe two cases with MVID caused by MYO5B deficiency, which was the most common caused with prenatal ultrasound findings of bowel dilation and increased amniotic fluid volume. Due to the lack of effective curative therapies, early diagnosis even in prenatal of MVID can provide parents with better genetic counseling on the fetal prognosis.
Keywords
Social Sciences
Molecular Biology of the CellMyosin Vb Is Associated with Plasma Membrane Recycling Systems
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The results indicate myosin Vb is associated with the plasma membrane recycling system in nonpolarized cells and the apical recyclingSystem in polarized cells, and the dominant negative effects of the myosIn Vb tail chimera indicate that this unconventional myos in is required for transit out of plasma membranes recycling systems.
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74 Citations2018Amy C. Engevik, Izumi Kaji +13 more
Although trafficking of many apical transporters is regulated by MYO5B, trafficking of CFTR is largely independent of MYO4B, and may exacerbate water loss by active secretion of chloride into the intestinal lumen.
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52 Citations2020Izumi Kaji, Joseph T. Roland +5 more
LPA may regulate a MYO5B-independent trafficking mechanism and brush border maturation, and therefore be developed for treatment of MVID.
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An analysis of a large population suggests the necessity of better strategies for the management of CLD, a rare autosomal recessive disorder characterized by watery diarrhea with a high level of fecal Cl−, metabolic alkalosis, and electrolyte alterations.
The American Journal of Surgical PathologyVillin Immunohistochemistry Is a Reliable Method for Diagnosing Microvillus Inclusion Disease
20 Citations2014Nick Shillingford, Monica L. Calicchio +7 more
In MVID, villin IHC showed attenuation or loss of the surface brush border and also highlighted the cytoplasmic microvillus inclusions with clarity, and study of additional cases will determine whether vill in IHC would obviate the need for electron microscopic confirmation.
Molecular Biology of the CellGlucocorticoids and myosin5b loss of function induce heightened PKA signaling in addition to membrane traffic defects
14 Citations2019Radia Forteza, Md. Kaimul Ahsan +4 more
It is concluded that Myo5b defects result in PKA stimulation that activates residual channels on the surface when intestinal epithelia are exposed to glucocorticoids at birth.
The Journal of Maternal-Fetal & Neonatal MedicineAnalysis of the clinical outcomes of fetal bowel dilatation combined with other abnormal ultrasonographic features
8 Citations2017Suting Xu, Wei Zhong +6 more
Prenatal bowel dil atation in combination with other abnormal ultrasound features, especially small bowel dilatation inCombined in the second and third trimesters, tended to indicate intestinal malformation, which contributes to enhance the accuracy of prenatal diagnosis of gastrointestinal malformation.