Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020440 (hypercapnia)
 7,939 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A review of 52 consecutive cases of congenital diaphragmatic hernia composed of 36 cases of Bochdalek hernia (B.H.) 13 of diaphragmatic eventration (D.E.), and 3 of diaphragmatic agenesis (D.A.) is reviewed critically. The operative mortality rate in Bochdalek hernia was 8.3% but became 20% with reference to the 15 infants with B.H. operated in the first 24 hrs. of life and 31.5% with reference to all 19 infants requiring repair of the diaphragmatic defect during the first day after birth. The operative mortality in D.A. was 100% and was nil in D.E. The mortality appeared related directly to prematurity, early age at operation, preoperative hypoxemia (PaO2 less than or equal to 60), hypercarbia, (PaCO2 greater than or equal to 60), and acidosis (pH less than or equal to 7.0), association with life-threatening anomalies affecting the lungs and its vessels, the heart, the size of the diaphragmatic defect and of the celomic cavity, the postoperative development of NEC and of obstructing intestinal adhesions. Eight of the 33 survivors (24%) with B.H. developed intestinal obstruction secondary to adhesions 2 months to 14 years after operation, of whom 7 required surgical intervention, and 3 bowel resections. The total mortality rate in B.H. was 14% and the rate in this series of combined defects was 15%.
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PMID:Congenital diaphragmatic hernia and eventration. 361 33

Hirschsprung's disease (HSCR) is characterized by the absence of intramural ganglion cells in the distal gut, resulting in bowel obstruction shortly after birth. Congenital central hypoventilation syndrome (CCHS) results in hypoventilation, most pronounced during sleep, with relative insensitivity to hypercarbia and reduced insensitivity to hypoxia. Congenital central hypoventilation syndrome with HSCR is a rare condition with variable severity. Both CCHS and HSCR are uncommon and their co-occurrence may suggest a common etiology, probably involving a fault of neural crest development. Recent reports have identified the paired-like homeobox 2B (PHOX2B) gene as the major gene for CCHS and HSCR. We report here an identified PHOX2B gene in a newborn baby who had concurrence of CCHS and total colonic aganglionosis with proximal small bowel involvement. Management of this rare disorder is challenging not only because it presents in newborn stage but also because it has extensive HSCR. Considering the issue of medical futility, the therapeutic and ethical dilemma of this infant was discussed.
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PMID:Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. 1727 May 34