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)

Up to now 49,116 immunoreactive trypsin (IRT) measurements have been carried out in Austrian newborns in the first week of life. Related to provisionally chosen cut-off points, 301 newborns (0.61%) showed an elevated IRT value; 253 of them were successfully recalled. According to a direct strategy, sweat tests were done without a second IRT measurement in 101 infants; eleven of them were identified as cystic fibrosis (CF) patients. In accordance with a 2-step strategy, 152 infants were reinvestigated by a second IRT determination. Twenty-eight of them again showed an elevated IRT value, as based on provisional, age-dependent reference values; seven were subsequently identified as CF patients by sweat testing. So far two false-negative findings were obtained on IRT screening: one child was later identified as having CF on the basis of typical clinical symptoms and a positive sweat test, the other patient presenting with meconium ileus showed a normal IRT value after surgery, but was subjected to a sweat test in view of the underlying condition. These preliminary results suggest a CF incidence of 1 to 2460 newborns in Austria. Hence, IRT screening appears to be a reliable method for identifying CF patients in the newborn period, thereby facilitating early treatment and genetic counselling.
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PMID:[Mucoviscidosis screening with immunoreactive trypsin]. 147 73

Screening of the newborn for cystic fibrosis by measurement of immunoreactive trypsin has been undertaken on alternate weeks in Wales and the West Midlands for five years since 1985 to evaluate the possible clinical benefits of early diagnosis. Patients detected by screening and those diagnosed by clinical symptoms alone were assessed annually for differences in clinical, anthropometric, and biochemical variables. Fifty eight infants not considered to be at risk of cystic fibrosis (they did not present with meconium ileus and do not have a sibling with cystic fibrosis) have been detected by screening and they have been compared with 44 children who were diagnosed clinically. This latter group includes nine children whose screening was negative but who were recognised subsequently to have cystic fibrosis. The mean age at diagnosis of the screened group was significantly lower than that of the group diagnosed clinically. Excluding admissions for diagnostic tests for cystic fibrosis, the screened group spent a significantly shorter time in hospital during the first year of life. The results of all other comparisons made between the screened group and those diagnosed clinically were similar up to the age of 4 years.
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PMID:Neonatal screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after five years of screening. 199 88

Enteritis necroticans (EN), known as pigbel in Papua New Guinea (PNG), may be the important predisposing lesion to mid-gut volvulus, jejunal and ileal ileus and other forms of small bowel strangulation in communities where protein deprivation, poor food hygiene, epochal meat feasting and staple diets containing trypsin inhibitors co-exist. Such human habitats occur in Africa, Central and South America, western Pacific, Asian and south-east Asian cultures. Isolated outbreaks of necrotizing enteritis have been reported from Uganda, Malaysia and Indonesia but as yet no systematic epidemiological study of the prevalence of small bowel strangulations has been described in the surgical literature of 'third world' countries. Now that enteritis necroticans is preventable by vaccination, such studies should be undertaken. This paper outlines the story of pigbel and its control in PNG.
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PMID:The pigbel story of Papua New Guinea. 206 39

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

A hypothesis suggested in this paper is that pigbel, or enteritis necroticans was a common disease in mediaeval Europe when human habitats, food hygiene, protein deficiency and periodic meat feasting formed the basics of village life as they do in many Third World cultures today. Based on the Papua New Guinea experience with pigbel, it is suggested that health authorities should look closely at the epidemiology of the acute surgical abdomen in such communities. Enteritis necroticans may be the important predisposing lesion to mid-gut volvulus, jejunal and ileal ileus and other forms of small bowel strangulation in communities where protein deprivation, poor food hygiene, epochal meat feasting and staple diets containing trypsin inhibitors co-exist. Such human habitats occur in Central South America, Western Pacific, Asian and South-East Asian cultures. Isolated outbreaks of necrotising enteritis have been reported from Uganda, Malaysia and Indonesia but as yet no systematic epidemiological studies of the prevalence of small bowel strangulations have been described in the surgical literature of Third World countries. Now that enteritis necroticans is preventable by vaccination such studies should be undertaken.
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PMID:Pigbel in Papua New Guinea: an ancient disease rediscovered. 630 98

Immunoreactive trypsin (IRT) was measured radioimmunologically in samples of blood dried on filterpaper of 18 417 newborns. In 221 samples (1.2%) the concentration exceeded 80 ng/ml whole blood. In these cases we asked for a further sample of blood dried on filterpaper and for further clinical tests. Cystic fibrosis (CF) was confirmed in three babies, one of these died from meconium ileus. The IRT-concentrations did not drop significantly in 4 and 6 weeks respectively in the 2 patients, whereas this was the case in 192 babies without CF. Our data suggest that the determination of IRT may be developed into a highly specific screening method for CF provided that optimal reagents are selected and that blood is collected during the 4th or 5th week of life.
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PMID:[Mucoviscidosis screening by determination of immunoreactive trypsin]. 648 7

The 4 diagnostic stages of Cystic Fibrosis (C.F.) will be dealt with: prenatal diagnosis, singling out of the heterozygotes, clinical diagnosis and finally, the instrumental confirmation with the sweat test. The techniques for the intra-uterine diagnosis and for singling out of the heterozygotes are still in the experimental stage and cannot yet be put to practical use. The BM test on meconium is, among the numerous neonatal screening, no doubt the most widely used because of its simplicity and low cost. However, our personal experience has confirmed the high incidence of false negative (60%) and of false positive responses (0.8 - 0.9%). This has brought about a reconsideration upon the usefulness of neonatal screenings and this goes for the most recent method based on the dosage of blood trypsin levels. Because of the many difficulties imposed by the neonatal screening, there is a trend towards alternative diagnostic route: the clinical diagnosis. One of the most important objective symptoms even if it may seem trivial, is the reduced ponderal growth: in our personal experience, 51% of patients when diagnosed presented with weight below 10th percentile. One of the most frequent clinical pictures in that of a severe obstructive pulmonary disease of the infant. The high incidence of CF (1 in 1,250 live births) and the high mortality rate in the first year of life (50% of patients die during their first year) indicate that CF weighs heavily on the infantile mortality due to lung disease considered globally. This holds true above all for the Emilia-Romagna region, where the infantile mortality due to lung disease has been drastically reduced. One of the most recently discovered clinical manifestations, more frequent in hot climates, is the metabolic alkalosis. There is then a long series of minor clinical signs which should make one suspect a CF: a few of these are prolapse of the rectum, nasal polyposis, the equivalent of meconium ileus, haemorrhagic symptoms due to hypoprothrombinemia etc. An instrumental confirmation, a sweat test carried out with the quantitative method according to Gibson and Cooke, must always follow each clinical suspect. Unfortunately, alternative methods (such as the Orion C1 electrode or the Medtherm conductivity method) which have very high margins of error are still too widely used, in Italy as well, and should be completely abandoned.
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PMID:[Diagnosis of cystic fibrosis]. 664 74

Newborn screening for cystic fibrosis (CF) by dried blood spot immunoreactive trypsin (IRT) assay is now feasible, but the benefits are disputed. We have studied the symptoms and signs at diagnosis in 48 babies detected during a newborn screening programme, and also the delay between presentation with symptoms and diagnosis in all 33 babies diagnosed at our CF clinic in the two years before screening began. Eleven of the 48 screened babies had meconium ileus, 16 had gastrointestinal symptoms only, and 14 had both respiratory and gastrointestinal symptoms at the time of diagnosis. Five of the remaining 7 babies developed clear cut symptoms or signs soon after diagnosis. Thus, 96% (46 of 48) of the babies had symptoms by 3 months of age. Of the 33 infants diagnosed clinically in the two years immediately before screening, 13 (39%) were over 12 months of age at diagnosis. Moreover, the mean delay between presentation with symptoms and diagnosis of CF in these infants was 2.6 years. Our data show that the delay between onset of symptoms and diagnosis is far greater than previously supposed and that most babies detected by our screening programme already had symptoms that warranted treatment at the time of their diagnosis.
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PMID:Diagnostic delay in cystic fibrosis: lessons from newborn screening. 665 21

Seventy-five thousand 5-day-old babies were screened for cystic fibrosis by blood spot immunoreactive trypsin (IRT) assay as part of a statewide screening program. IRT was elevated in 433 babies; retesting revealed persistent elevation in 38. Sweat testing confirmed cystic fibrosis in 35 babies and was normal in two babies, whose IRT remained elevated at the time of the test. Sweat testing was refused by one mother. Of the 35 babies with cystic fibrosis, 13 had meconium ileus or an already diagnosed affected sibling, but the diagnosis was unsuspected in 22, although all but four had some symptoms suggestive of cystic fibrosis. Stool trypsin activity at the time of the diagnostic screen was normal in nine and reduced in seven of the babies with cystic fibrosis. One baby did not have elevated IRT, and the cystic fibrosis was missed by the screening test. In a retrospective study of blood spot samples from 36 newborn infants, who were later diagnosed as having cystic fibrosis, all had IRT levels greater than in matched controls. Our study confirms that elevated IRT is characteristic of newborn babies with cystic fibrosis, and shows that this test is very specific and sensitive when used as a newborn screening test.
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PMID:Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants. 682 10


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