Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A heterogeneous group of 45 neonates with severe pulmonary disease and inadequate gas exchange on conventional intermittent mandatory ventilation (IMV) was treated with a high-frequency oscillator combined with an IMV (HFO-IMV) system (Emerson Airway Vibrator connected to a BABYBird 1 ventilator). The mean gestational age was 33 weeks (25.5-43) and mean birth weight 2.02 kg (0.66-4.24). Primary diagnoses included respiratory distress syndrome (RDS; 23), pneumonia (12), persistent fetal circulation (PFC; 6), diaphragmatic hernia/hypoplastic lungs (4). The IMV rate was reduced from 78 to 29 BPM (P less than or equal to 0.0005), while maintaining lower partial pressure of carbon dioxide (PaCO2) (P less than 0.005) and higher partial pressure of oxygen (PaO2) (P less than or equal to 0.0025). Active air leaks were present in 20 infants and these infants responded most favourably to HFO-IMV. HFO-IMV failed to improve ventilation in neonates with diaphragmatic hernia/hypoplastic lungs. Complications during HFO-IMV were increased pulmonary secretions (11), worsening or recurrence of pre-existing air leaks (11), or occurrence of new air leaks (10). In 4 patients death was related to major air leak complications. Twenty-four infants died, 18 of them of a respiratory cause. Twenty-one infants finally survived. We assembled a well-tolerated system to provide HFO-IMV and to successfully ventilate neonates with severe respiratory disease, who failed to respond to conventional IMV. Initiation of HFO-IMV earlier in the course of the disease in this type of infant may improve survival.
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PMID:High-frequency oscillatory ventilation combined with intermittent mandatory ventilation in critically ill neonates: 3 years of experience. 329 14

Ehlers-Danlos syndrome (EDS) type VIIC is a recessively inherited connective-tissue disorder, characterized by extreme skin fragility, characteristic facies, joint laxity, droopy skin, umbilical hernia, and blue sclera. Like the animal model dermatosparaxis, EDS type VIIC results from the absence of activity of procollagen I N-proteinase (pNPI), the enzyme that excises the N-propeptide of type I and type II procollagens. The pNPI enzyme is a metalloproteinase containing properdin repeats and a cysteine-rich domain with similarities to the disintegrin domain of reprolysins. We used bovine cDNA to isolate human pNPI. The human enzyme exists in two forms: a long version similar to the bovine enzyme and a short version that contains the Zn++-binding catalytic site but lacks the entire C-terminal domain in which the properdin repeats are located. We have identified the mutations that cause EDS type VIIC in the six known affected human individuals and also in one strain of dermatosparactic calf. Five of the individuals with EDS type VIIC were homozygous for a C-->T transition that results in a premature termination codon, Q225X. Four of these five patients were homozygous at three downstream polymorphic sites. The sixth patient was homozygous for a different transition that results in a premature termination codon, W795X. In the dermatosparactic calf, the mutation is a 17-bp deletion that changes the reading frame of the message. These data provide direct evidence that EDS type VIIC and dermatosparaxis result from mutations in the pNPI gene.
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PMID:Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. 1041 73