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Scaffolds were implanted into a surgically created diaphragm defect in rats and explanted after 12 weeks.
The diaphragm defect was repaired with a Gore-Tex® Soft Tissue Patch (W.L. Gore & Associates Technologies Co., Ltd., Tokyo, Japan).
The former type occurs when a patient is born with a diaphragm defect but presents no symptoms until he or she is an adult.
Five steps are necessary to develop a tension gastrothorax: (1) existence of a diaphragm defect, (2) increased intraabdominal pressure, (3) prolapse of the stomach into thoracic cavity, (4) a functional change in the gastroesophageal junction (by way of an abnormal angulation) to form a one-way valve, and (5) a reduction in cardiac output as a result of mediastinum shift [2, 3].
However, this child did not show a diaphragm defect.
Comparison with other described chromosome 5p and 12p anomalies indicated that half of the features presented in our patient (including the diaphragm defect) could be attributed to both chromosomal areas.
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Whether NIPBL is indeed the causative gene for CdLS associated diaphragm defects needs to be determined.
Unfortunately, the candidate genes responsible for malformation of the diaphragm remain to be determined for both these regions, yet literature suggests that the candidate region for diaphragm defects on 5p most likely overlaps with the CdLS critical region only.
However, structural abnormalities of almost all chromosomes in association with diaphragm defects have been described in literature, including those of the short arms of chromosomes 5 and 12 [London medical Databases version 1.0.19].
It results in muscle degeneration and eventual death, with affected individuals suffering from diaphragm defects and heart failure (English and Gibbs, 2006).
Mutations that disrupt this pathway in humans and mice result in disorganization of the slit diaphragm and defects in the glomerular filter that cause proteinuria (Jones et al., 2006, 2009).
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