Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A series of proteins (albumin, transferrin, alpha 1-antitrypsin, alpha-fetoprotein and pancreatic oncofetal antigen) and enzymes (gamma-glutamyltranspeptidase, aminopeptidase M, alkaline phosphatase, alpha-glucosidase and protease) was measured in fetal meconium extracts. There were 19 fetuses thought to have cystic fibrosis (CF), 13 with neural tube defects, three with chromosome abnormalities and 19 normal controls, all with gestational ages between 18 and 21 weeks. With the exception of alpha-fetoprotein, all the proteins and enzymes were significantly elevated in the CF meconium extracts. The most definitive indicator of a CF fetus was the albumin concentration, where the mean level was five times that found in the control groups. However, five of 19 fetuses assumed to have CF had albumin in the normal range. In these cases the meconium protease levels were grossly elevated. Furthermore, in the same five fetuses meconium concentration of pancreatic oncofetal antigen, a protein synthesized in the fetal pancreas, was also greatly raised. We suggest that post-mortem examination of a fetus thought to have CF should include measurement of meconium albumin, protease and pancreatic oncofetal antigen.
 ...
PMID:Biochemical analysis of meconium in fetuses presumed to have cystic fibrosis. 242 27

The long-term efficacy and safety of aminoglycoside aerosol therapy for Pseudomonas aeruginosa colonization/infection in cystic fibrosis has not been fully investigated. In the present study, 14 patients with cystic fibrosis, ages 8-19 years (mean: 13.3 years), received tobramycin aerosol therapy for a mean duration of 20 months. Eighty milligrams of a tobramycin solution were inhaled twice daily after physiotherapy via a jet nebulizer. After 1 year, weight for height increased significantly by 2.9% of the predicted normal, and the Kraemer clinical score increased by 2.1 points (P less than 0.05). The frequency of hospital admissions decreased from 2.0 to 1.3 per patient, respectively, during the years before and after the study onset. The antibody response to P. aeruginosa elastase, exotoxin A, and alkaline phosphatase showed a reduction in serum titers against one or more enzymes in eight patients. The best long-term results after 12-38 months of treatment were obtained in moderately ill children. No evidence of ototoxicity or renal damage was observed. Although intermittent bacterial resistance occurred in five patients after 10-21 months of tobramycin inhalation, this was not associated with clinical deterioration. The study demonstrates the safety and clinical efficacy of long-term tobramycin aerosol therapy. Double-blind studies with larger patient cohorts are required to determine the value of aminoglycoside inhalation as an adjunct to the established therapeutic regimens.
 ...
PMID:Long-term tobramycin aerosol therapy in cystic fibrosis. 249 40

The activity of gamma-glutamyltranspeptidase and total alkaline phosphatase and its isoenzymes has been determined in 261 amniotic fluid samples taken from pregnant women with known normal outcome and in 30 amniotic fluid samples from pregnant women with a 1:4 risk for cystic fibrosis (CF). Preliminarily, 114 amniotic fluid samples were assayed in parallel in three different laboratories, and a good correlation was found even though different assays were used. From the results obtained in control amniotic fluids, normal range and CF-predictive cutoff values were established. No false-negative results were found in this study. Among the predicted affected pregnancies 7 were terminated, and 3 went to term: 1 resulting in a CF-affected child and the other 2 in healthy children. CF was confirmed in all the aborted fetuses. In 1 case the results were inconclusive. In this study numerical results obtained for samples with a 1:4 risk of CF analyzed in the three laboratories were always virtually identical.
 ...
PMID:Prenatal diagnosis of cystic fibrosis. Analytical evaluation of microvillar enzyme determinations in amniotic fluid. 257 33

A prenatal diagnosis was performed in 51 pregnancies with a 1-in-4 risk of having a child with cystic fibrosis. The criteria for determining an affected fetus were based on the results of alkaline phosphatase (ALP) residual activity after inhibition by phenylalanine and by homoarginine, of total ALP activity, and of gamma-glutamyltranspeptidase (GGTP) activity in the amniotic fluid taken between 16 and 19 weeks of pregnancy. The chromosomal analysis of amniotic fluid cells showed trisomy 13 in one case which was excluded from the analysis of biochemical assays. The biochemical assays were in the normal ranges in the amniotic fluid of 35 pregnancies: 26 have reached term and a normal infant has been born, 9 are still in progress. A deficiency of the ALP phenylalanine-inhibitable form, depressed values of total ALP and GGTP were observed in the amniotic fluid of 15 pregnancies: one pregnancy went to term and the infant had CF, in 14 cases the pregnancy was terminated, and meconium ileus was observed in ten of these cases. It was observed that the changes towards abnormal values became more significant with advancing gestational age and that 18 weeks appeared to be the optimum time for diagnostic amniocentesis.
 ...
PMID:Prenatal diagnosis of cystic fibrosis. I. Prospective study of 51 pregnancies. 258 Dec 42

The high-Mr isoenzyme of alkaline phosphatase (AP, EC 3.1.3.1), a highly sensitive index to cholestasis, was measured by liquid chromatography in 45 patients with cystic fibrosis. Results of serum tests for liver dysfunction--including gamma-glutamyltransferase, aspartate aminotransferase, alanine aminotransferase, total AP, bilirubin, and bile acids--were compared with those for high-Mr AP. Values for high-Mr AP were increased in 44.4% of our patient population, with activities ranging from 0.4 to 17.3 U/L. The upper limit in the control group was 2.5 U/L. We find increased high-Mr AP to be a more sensitive indicator of liver dysfunction in patients with cystic fibrosis than are other tests.
 ...
PMID:High-molecular-mass ("biliary") isoenzyme of alkaline phosphatase and the diagnosis of liver dysfunction in cystic fibrosis. 277 12

The potential of four enzyme-based analytical systems has been compared in the second-trimester prenatal diagnosis of cystic fibrosis (CF). Direct activity measurements were made of gamma-glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and the intestinal isoenzyme of alkaline phosphatase (ALP). In the fourth system the proportions of total ALP inhibited by phenylalanine and homoarginine, respectively, were assessed. Each system was applied to amniotic fluid samples from 94 pregnancies with a 1 in 4 risk of CF, divided into retrospective (36) and prospective (58) series. No system gave an absolute separation of affected from unaffected cases. Measurement of APM and intestinal ALP (phenylalanine-inhibitable ALP) gave a better detection rate for CF (35 of 41 cases, 85 per cent) than did measurement of GGTP (63 per cent) or assessment of ALP proportions (76 per cent). APM had a lower false positive rate (4 per cent) than intestinal ALP (8 per cent). For both the latter systems the detection rate of CF rose to 96 per cent (25 of 26), if gestations less than 17 weeks were excluded.
 ...
PMID:A comparative study of microvillar enzyme activities in the prenatal diagnosis of cystic fibrosis. 285 85

The activities of two microvillar enzymes, gamma-glutamyltranspeptidase (GGTP) and alkaline phosphatase (ALP) have been determined in amniotic fluid (AF) samples from 39 pregnancies with a 1-in-4 risk of cystic fibrosis. Seventeen of these were investigated prospectively. A reduced proportion of the fetal specific intestinal ALP isoenzyme was found in 7 of a total of 13 pregnancies with cystic fibrosis and in one pregnancy of confirmed normal outcome. Eight of the affected pregnancies were tested for AF GGTP activity and depressed levels were found in 15. None of the 3 liveborn cystic fibrosis cases in the prospective series was identified by the ALP assay although 2 had significantly reduced GGTP activity. There were several amniotic fluid samples from cases of cystic fibrosis, trisomy 18 and normal outcome which had discordant GGTP and ALP results. Four of the 6 cases of cystic fibrosis misclassified by the ALP assay had amniocentesis at 15 or 16 weeks gestation. Evidence is presented which confirms a previous suggestion that amniocentesis after 17 weeks gestation improves the predictability of the ALP isoenzyme assay for the prenatal diagnosis of cystic fibrosis.
 ...
PMID:Microvillar enzyme analysis in amniotic fluid and the prenatal diagnosis of cystic fibrosis. 285 84

An immunoassay based on monoclonal antibodies with specificity for the three major isoenzymes of alkaline phosphatase (ALP) has been used in second-trimester prenatal diagnosis of cystic fibrosis (CF). 140 pregnancies with a 1-in-4 risk of CF were assessed prospectively, and outcomes are reported for 100 of these. In 9 cases the diagnosis could not be confirmed or excluded, in 65 cases the infant was normal, and in 15 the infant had CF. In the remaining 11 cases, in which the pregnancy was terminated, the diagnosis of CF was confirmed in the abortus by measurement of albumin and protease levels in meconium scraped from the fetal ileum. Of the 26 cases of CF in the prospective series, 23 (88%) had values of intestinal ALP below half the median value for the corresponding week of gestation. Among those with normal outcomes 3 of 65 (4.6%) were below half-median. When prospective and retrospective data are summed the sensitivity of the test was 91% (39 of 43) and the false-positive rate 6% (5 of 81). This is probably an acceptable form of prenatal diagnosis of CF for the high-risk mother.
 ...
PMID:Prospective prenatal diagnosis of cystic fibrosis. 286 Mar 84

Microvillar enzymes (disaccharidases, alkaline phosphatase, and gamma-glutamyltransferase) were assayed in amniotic fluid from pregnancies with normal and abnormal fetuses to determine their specificity and reliability for the prenatal detection of intestinal obstructions and cystic fibrosis. All fetuses with imperforate anus, duodenal atresia, jejuno-ileal atresia, multiple intestinal atresia, or other forms of intestinal obstructions, with or without associated ventral wall defect or aneuploidy syndrome, showed diminished microvillar enzyme activities below the normal range of control amniotic fluid samples. The exclusively intestinal hydrolases maltase, sucrase, palatinase, and alkaline phosphatase were the most reliable and sensitive markers to detect intestinal obstructions whereas more widely distributed trehalase and gamma-glutamyltransferase activities were less sensitive. The combination of intestinal disaccharidase maltase, sucrase or palatinase and ALP assays is more accurate for prenatal diagnosis of CF than a combination of intestinal ALP and GGTF assays.
 ...
PMID:Prenatal detection of intestinal obstructions, aneuploidy syndromes, and cystic fibrosis by microvillar enzyme assays (disaccharidases, alkaline phosphatase, and glutamyltransferase) in amniotic fluid. 288 May 7

The prenatal diagnosis of cystic fibrosis is based on microvillar enzymes values in amniotic fluid taken by amniocentesis at precisely the 17-18 weeks gestation age (15-16 weeks developmental age). In pregnancies with a cystic fibrosis affected fetus the values of the enzymes are depressed. Since microvillar enzymes are normal constituents of amniotic fluid, it is important 1. to have highly reproducible techniques and 2. to determine the range of the normal values and their variations in relation to the development of the fetus. Prenatal diagnosis was performed in more than 200 pregnancies with a 1 in 4 risk of cystic fibrosis and was based on significant modifications of 6 amniotic fluid enzymes values: gamma-glutamyl-transpeptidase, aminopeptidase and alkaline phosphatase (total and isoenzymes). Normal outcome was predicted in 135 pregnancies reaching term, 133 babies were normal and 2 were affected. On the basis of significantly abnormal enzymatic values an affected fetus was predicted in 57 pregnancies, 3 went to term, the infants were affected, 54 were terminated and the diagnosis of cystic fibrosis was confirmed in the examined fetuses. The decrease in amniotic fluid microvillar enzymes values is the result of an obstruction of the terminal ileum. Fetuses affected with cystic fibrosis developed an intestinal obstruction around the 15th week of developmental age which can be seen by ultrasound scanning in about fifty per cent of the cases. This obstruction persists in some fetuses and leads to a meconium ileus at birth.
 ...
PMID:[Prenatal diagnosis of mucoviscidosis: biochemical technics and studies of affected fetuses]. 288 Jun 76


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>