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Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

Cowan JR1,2, Tariq M2,3, Shaw C4, Rao M4, Belmont JW4, Lalani SR4, Smolarek TA5, Ware SM6.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences.Philos Trans R Soc Lond B Biol Sci.2016 Dec 19;371(1710). pii: 20150406.
Genomic disorders and rare copy number abnormalities are identified in 15-25% of patients with syndromic conditions, but their prevalence in individuals with isolated birth defects is less clear. A spectrum of congenital heart defects (CHDs) is seen in heterotaxy, a highly heritable and genetically
PMID 27821535

Fetal Situs, Isomerism, Heterotaxy Syndrome: Diagnostic Evaluation and Implication for Postnatal Management.

Degenhardt K1,2, Rychik J3,4.
Current treatment options in cardiovascular medicine.Curr Treat Options Cardiovasc Med.2016 Dec;18(12):77.
OPINION STATEMENT: A hallmark of vertebrate anatomy is asymmetry of structures, especially internal organs, on the left and right side of the body. Heterotaxy syndrome is the combination of correct-sided, and incorrect-sided organs. The establishment of the left-right axis is an early event in verte
PMID 27844411

Heterotaxy Syndrome with and without spleen: different infection risk and management.

Piano Mortari E1, Baban A2, Cantarutti N2, Bocci C3, Adorisio R2, Carsetti R3.
The Journal of allergy and clinical immunology.J Allergy Clin Immunol.2016 Nov 15. pii: S0091-6749(16)31289-1. doi: 10.1016/j.jaci.2016.10.014. [Epub ahead of print]
We compared the clinical disease and immunological conditions of Heterotaxy syndrome patients with or without spleen and found that asplenia is associated to significant increased frequency of infection and reduction of IgM memory B cells.Copyright © 2016. Published by Elsevier Inc.
PMID 27864025