Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.21.4 (trypsin)
 42,187 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

First-trimester prenatal diagnosis of cystic fibrosis (CF) using linked DNA markers is usually only possible if there is an index affected child to establish the haplotype of the parental chromosomes. We describe a prenatal diagnosis where fibroblasts, cultured from the skin of a deceased affected child and then held in frozen storage for 3 years, were used as the starting point for tracking the CF gene. The fetus was diagnosed as a homozygous normal and the diagnosis confirmed by immunoreactive trypsin testing after birth. It was also possible to establish heterozygosity in the aunt of the affected child.
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PMID:First-trimester prenatal diagnosis of cystic fibrosis using fibroblasts from a deceased index child to establish haplotypes. 320 66

Two groups of patients with cystic fibrosis were compared. The screened group, detected with an improved neonatal screening assay for immunoreactive trypsin, developed fewer chest infections requiring treatment and gained more weight than the unscreened group. Early diagnosis by screening seems to affect early morbidity.
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PMID:Neonatal screening for cystic fibrosis. 334 68

The distribution of bile acids in the stool of seven cystic fibrosis (CF) patients with severe or mild steatorrhea was examined and compared with that of three controls. Results indicated significantly lower endogenous bile acid concentrations in the stool water phase, obtained by centrifugation, in the CF patients (12.0 +/- 3.5%), compared with the controls (25.5 +/- 8.1%). In vitro incorporation of labeled cholic acid (CA) and deoxycholic acid (DCA) demonstrated a stronger binding of both to the particulate matter of stools in the CF group. Using equilibrium dialysis, the calculated concentrations of unbound CA and DCA in the CF group measured 0.78 and 0.3 mumol/g homogenate, respectively, and in the control patients 1.76 and 1.39 mumol/g homogenate, respectively. Partial release of bile acids from CF stool pellets was achieved by the addition of trypsin and elastase, as well as by alkalinization. It is suggested that in patients with CF, stool bile acids are bound to the undigested protein fraction, which makes them unavailable for colonic resorption.
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PMID:Bile acid sequestration by the solid phase of stools in cystic fibrosis patients. Role of pancreatic enzymes. 337 Nov 42

Pancreatic fluid and electrolyte secretion was assessed in 56 patients with cystic fibrosis (CF) and 56 non-CF control subjects undergoing pancreatic function testing while stimulated with cholecystokinin and secretin. Both CF patients and control subjects exhibited a wide range of pancreatic function. Fluid and trypsin outputs were positively correlated in both groups. Fluid output in CF subjects was significantly lower, however, than that of control subjects at any given level of trypsin output. Sodium, bicarbonate, and chloride secretions were all significantly decreased in CF subjects. Bicarbonate and chloride were important determinants of fluid secretion, but at any given bicarbonate or chloride output CF subjects secreted significantly less fluid than control subjects. When bicarbonate and chloride were analyzed as simultaneous predictor variables, adjusted fluid secretion was not significantly different in CF and control subjects. Diminished fluid secretion in CF subjects is therefore caused by impaired chloride, as well as bicarbonate, secretion.
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PMID:Impaired chloride secretion, as well as bicarbonate secretion, underlies the fluid secretory defect in the cystic fibrosis pancreas. 339 65

A study programme was set up in Wales and the West Midlands to evaluate serum immunoreactive trypsin screening for cystic fibrosis in neonates using blood spots collected for metabolic screening. By screening half the blood spots from each area, it was hoped to generate two comparable groups of fibrocystic children; those detected by screening and those not screened who would be diagnosed clinically. Over almost three years, more than 120,000 specimens were screened and 37 infants detected with cystic fibrosis. Four additional fibrocystic patients were missed on screening: two had negative immunoreactive trypsin values, of which one had meconium ileus, and two, although giving initial positive tests, were negative on follow up. Excluding infants known to be at risk, comparison of the numbers of children detected in the screened and unscreened groups showed more than a two-fold difference in favour of the screened group. There may be a large number of undiagnosed fibrocystic patients in the general population.
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PMID:Neonatal screening for cystic fibrosis in Wales and the West Midlands: 1. Evaluation of immunoreactive trypsin test. 341 Sep 67

Immunoreactive trypsin (IRT) has been studied in amniotic fluid as a possible complementary test substance for the prenatal diagnosis of cystic fibrosis (CF). 219 normal amniotic fluids have been tested in order to establish the normal ranges from 14 to 40 gestational weeks (g.w.). The IRT level increases from g.w. 14 to 19, remains stable from g.w. 19 to 25 and then decreases rapidly to low levels. A retrospective study of 4 presumed CF fluids, as determined by abnormal alkaline phosphatase levels, showed decreased IRT values in 3 out of 4 fluids. The difference between the mean value and the normal mean was not significant. The prospective study allowed us to test 2 fluids from pregnancies affected by meconium ileus. IRT level was highly elevated, 530 times the normal mean value at g.w. 34 for a non-CF fetus and 18 times the normal mean value for a CF fetus at g.w. 31. In 4 out of 5 cases of fetal severe intra-uterine growth retardation, IRT levels appeared mildly elevated. Other abnormalities are reviewed.
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PMID:Amniotic immunoreactive trypsin in pregnancies with normal and pathological outcomes. 343 39

The protease activities in saliva from individuals with cystic fibrosis (CF) were studied using four different chromogenic substrates. In the CF-group a significantly decreased protease activity in the range 50-70% was found, compared to an age- and sex-matched control group, but with considerable overlap between the CF-patients and the control patients. The trypsin-like activity found in CF-patients without chronic colonisation with Pseudomonas aeruginosa was significantly decreased and without overlap compared to the control patients. The results indicate that determination of salivary protease activity using chromogenic substrates may give additional information in patients with suspected cystic fibrosis, and indicate the possibility of an additional diagnostic test.
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PMID:Cystic fibrosis: protease activity in saliva evaluated with chromogenic substrates. 352 6

There are now several DNA probes which localize the cystic fibrosis mutation (CF) to chromosome 7q2.2-q3.1. The most tightly linked probes, pJ3.11 and met, are useful for first trimester prenatal diagnosis for many families provided that there is at least one living child affected by CF (Farrall et al., 1986). We describe here two families seeking prenatal diagnosis for CF which present unusual counselling problems. The first is an extended family in which there is no living affected member with CF; the second, a consanguinous marriage at risk both for cystic fibrosis and beta-thalassaemia. In both cases first trimester chorionic villus sampling and DNA haplotype analysis predicted that the fetus is a carrier for CF, and in the doubly affected family a carrier for beta-thalassaemia as well. Both pregnancies resulted in live births and subsequent immunoreactive trypsin estimations were both in the normal range.
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PMID:Two unusual cases of first trimester prenatal diagnosis of cystic fibrosis using DNA probes. 358 40

A new case of cystic fibrosis complicated with secondary amyloidosis is reported. We reviewed ten cases described up to now in the literature, emphasizing the rarity of this association. The usefulness of serum trypsin concentration as an index of exocrine pancreatic function and the accuracy and simplicity of the abdominal fat biopsy in the histologic diagnosis of amyloidosis were evaluated.
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PMID:Generalized amyloidosis: a rare complication of cystic fibrosis. 362 26

Using a simple and sensitive radioassay, we have determined the frequency of trypsin-binding (TB) immunoglobulin G (IgG) as a function of age in cystic fibrosis (CF) patients, in allergic patients, and in control subjects. These IgGs appear during the 1st years of life. Their frequency is maximum between 3 and 20 years of age and decreases during adulthood. In allergic children TBIgG appears later than in CF children and the maximum frequency (32%) is intermediate between those observed in CF and in control children (66 and 19.6%, respectively). We suggest that an endogenous form of trypsin is involved in the phenomenon.
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PMID:Trypsin-binding immunoglobulin G in cystic fibrosis, allergic, and normal children. 372 59


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