Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.1.1.7 (acetylcholinesterase)
28,390 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A study is presented on the activity of cholinesterase (substrate acetylcholine) and of arylesterase (substrate phenylactate) in proteinuria, classified according to the results of electrophoresis of glomerular and tubular proteinuria. Comparison is made with the corresponding serum. The urine is concentrated by dialysis on polyethylene-glycol to 60 g protein per 1000 before determination of the activities. In the presence of equal quantities of protein, cholinesterase is slightly more active in glomerular than in tubular proteinuria. In selective glomerular proteinuria, cholinesterase and arylesterase are less active than in cases with little or no selectivity. Comparison with serum, in each individual case, indicates that the ratio of activity in concentrated urine to that in serum, is higher for cholinesterase and arylesterase in tubular than in glomerular cases, whereas the reverse is true in urine at its natural concentration, on account of the lower degree of proteinuria in tubular cases. The ratio of cholinesterase to arylesterase activity in concentrated urine and serum is determined. Since cholinesterase activity is greatly increased in glomerular cases (nephrosis) this ratio is on average markedly higher in glomerular proteinuria than in serum, whereas it is similar in urine and serum of tubular cases. These results, seen in the light of the molecular weights of the enzymes, are difficult to interpret with certainty, especially as regards tubular proteinuria.
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PMID:[Cholinesterase, arylesterase and proteinuria. A clinical trial in glomerular and tubular proteinuria (author's transl)]. 71 86

Congenital nephrosis is an autosomal recessive disorder with an incidence of 1 in 8000 in Finland, but it is quite rare in non-Finnish populations. In families known to be at risk, prenatal detection is possible by means of maternal serum and/or amniotic fluid alpha-fetoprotein levels. We report the antenatal diagnosis of four cases of congenital nephrosis, three of which were index cases, through maternal serum alpha-fetoprotein screening. The diagnosis was confirmed at birth in two infants. Two patients elected to terminate their pregnancies, and the diagnoses were confirmed pathologically (obliteration of foot processes on electron microscopy of fetal glomeruli) in both. In cases of elevated maternal serum alpha-fetoprotein, with unexplained and marked elevations of amniotic fluid alpha-fetoprotein and normal acetylcholinesterase levels, the diagnosis of congenital nephrosis must be considered regardless of ethnic origin.
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PMID:Congenital nephrosis: detection of index cases through maternal serum alpha-fetoprotein screening. 127 76

Two cases of congenital nephrosis were detected through routine maternal serum alpha-fetoprotein (MSAFP) screening of 95,135 patients. No other cases of congenital nephrosis from this group were reported, resulting in an incidence of approximately one in 47,500 in this low-risk population. In both of these cases, similar to other reported cases of congenital nephrosis having MSAFP screening, the protein concentrations were greater than or equal to 10 multiples of the median (MOM). Therefore, in the case of an MSAFP over 10 MOM and a normal ultrasound examination, congenital nephrosis should be included in counseling regarding the possibility of undetected malformations. Furthermore, in the case of a pregnancy with elevated amniotic fluid AFP with negative acetylcholinesterase and normal ultrasound, the possibility of congenital nephrosis should be mentioned, regardless of family history or ancestry. When a pregnancy is terminated because of these biochemical findings, special and immediate attention to the fetal kidneys using electron microscopy is necessary to evaluate properly the possibility of congenital nephrosis.
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PMID:Congenital nephrosis as a cause of elevated alpha-fetoprotein. 169 88

During a 6-year period 19,647 consecutively received amniotic fluid samples were analyzed for the alpha-fetoprotein (AFP) concentration. In samples with an AFP concentration above the 95% upper normal limit the fraction of AFP non-reactive with concanavalin A (con A) was determined by crossed affinity immunoelectrophoresis. Of 436 samples from normal pregnancies with a moderate elevation of AFP (between the 95% limit and 2.5 times the median) the con A fraction was normal in 92 to 98% of the cases, depending on the gestational age. At significantly elevated AFP concentrations (above 2.5 times the median), the fractions were normal in 78% of the 50 cases with a normal outcome. In 80 of 89 cases of fetal malformations, abnormally low fractions were found, and in all 19 cases of abdominal wall defects and congenital nephrosis the fractions were low. No significant difference was found in the sensitivity for detection of fetal malformations by con A analysis compared to quantitative analysis for acetylcholinesterase (AChE). However, significantly more false positive results were found in normal pregnancies for the con A analysis compared to the AChE analysis. Both analyses performed significantly better than ultrasound scanning in terms of sensitivity. It is concluded that AChE is the test of choice in prenatal diagnosis of fetal neural tube defects. However, a sensitivity of 1.00 and a predictive value of a negative test of 1.00 were found for the con A analysis for fetal abdominal wall defects. The AchE analysis performed less well in this context.
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PMID:Con A non-reactive fractions of human amniotic fluid alpha-fetoprotein in prenatal diagnosis of fetal neural tube defects and fetal abdominal wall defects. Predictive values, sensitivity, and specificity, and comparison to acetylcholinesterase and ultrasound scanning. 245 43

To assess the relative efficacy of amniocentesis versus targeted (detailed) ultrasonography, 225 patients referred because of an elevated maternal serum alpha-fetoprotein level (79.6%) or a family history of neural tube defect (20.4%) were evaluated. Ultrasonographic examination alone detected all 26 fetal abnormalities (11 cases of anencephaly, 10 cases of open spina bifida, and five other anomalies). Twenty-eight patients declined amniocentesis; all had normal pregnancy outcomes. Of the 167 patients with apparently normal fetal anatomy by sonography, seven had elevated alpha-fetoprotein levels but no acetylcholinesterase in the amniotic fluid. Six of these pregnancies resulted in normal infants; one infant had congenital nephrosis. The remaining 160 patients had normal sonograms with normal amniotic fluid alpha-fetoprotein levels and no fetal malformations at delivery. Although these results suggest that targeted ultrasonography by experienced personnel is a reasonable alternative to amniocentesis in evaluations for neural tube defects, the availability, cost-effectiveness, and diagnostic accuracy of this approach must be well documented in large prospective studies.
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PMID:The role of ultrasonography and amniocentesis in the evaluation of pregnancies at risk for neural tube defects. 169 82

Fifteen centres collaborated in a study to determine the value of amniotic fluid acetyl cholinesterase (AChE) electrophoresis in the diagnosis of fetal open neural-tube defects (NTDs) between 13 and 24 weeks of gestation among women with positive amniotic fluid alpha-fetoprotein (AFP) results. Pregnancies with positive amniotic fluid AFP results were identified from about 34 000 tested; on average they had values greater than the 99.6th percentile for non-NTD pregnancies. Amniotic fluid samples were available from 1099 pregnancies with positive AFP results, and the percentages which yielded positive AChE results were as follows: anencephaly 99.6% (476/478); open spina bifida 99.4% (333/335); non-NTD pregnancies (i) without serious malformation and not ending in miscarriage 6% (8/125), (ii) without serious malformation but ending in miscarriage 47% (34/73), (iii) exomphalos 75% (47/63), (iv) congenital nephrosis 0% (0/11), (v) other serious malformations 50% (7/14). The gel-AChE test was thus found to be very effective when applied to amniotic fluid samples with positive AFP results, substantially reducing the number of false positives with only a very small loss in the detection of open neural-tube defects. Among women with positive amniotic fluid AFP results, the risk of having a fetus with an open NTD compared to having one without a serious malformation or a miscarriage is raised about 16-fold if the AchE test is also positive. The actual risk will depend on the birth prevalence and the reason for amniocentesis. For example, in the U.K. the risk of open spina bifida (expressed as an odds ratio) when both the amniotic fluid AFP result and the gel AChE results are positive would be as follows for women referred for amniocentesis in different categories; approximately 288:1 for those referred because of single raised serum AFP level (greater than or equal to 2.5 time the normal median at 16-18 weeks of gestation, 80:1 for women referred because of having previously had an infant with an NTD, and 8:1 for women referred for other reasons. It the amniotic fluid sample is stained with blood which is mainly fetal in origin, the corresponding odds are much lower (36:1, 10:1, and 1:1 respectively): if it is not blood-stained or is stained mainly with maternal blood, they are higher (954:1, 265:1, and 26:1 respectively).
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PMID:Amniotic fluid acetylcholinesterase electrophoresis as a secondary test in the diagnosis of anencephaly and open spina bifida in early pregnancy. Report of the Collaborative acetylcholinesterase Study. 611 8

The presence of absence of a specific acetylcholinesterase (AChE) band was determined by polyacrylamide gel electrophoresis on 272 second trimester amniotic fluid samples. The AChE band was absent from 176 normal samples, including seven which had been scored as false positives by alphafetoprotein (AFP) assay. It was present in all 30 samples from open neural tube defects, of which four had been scored as false negatives by AFP assay. In remaining 66 pregnancies with abnormal outcome, an AChE band was in general present when AFP was raised and absent when it was normal. However, all six cases of congenital nephrosis had raised AFP and no AChE band, while two of 30 pregnancies ending in spontaneous abortion had an AChE band and normal AFP. These results suggest that AChE electrophoresis is a valuable confirmatory technique for the early prenatal diagnosis of fetal abnormalities.
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PMID:Gel electrophoresis of amniotic fluid acetylcholinesterase as an aid to the prenatal diagnosis of fetal defects. 616 Sep 28

Elevated Alpha-Fetoprotein (AFP) values in the amniotic fluid are most frequently associated with neural occlusive disturbances or, in rare cases, with other external malformations of the foetus. In this article, the authors report on two cases where the elevated AFP had not been due to fetal malformations. In the first case, the cause was identified as foetal proteinuria, probably in the sense of an autosomal-recessive hereditary congenital nephrosis, whereas in the second case the phenomenon was possibly due to a "foetal distress" syndrome. Attention is drawn to the importance of elevated AFP levels. The possibilities of further prenatal differential diagnosis are discussed, such as ultrasound, determination of acetyl cholinesterase AChE) activity and assessment of the amniotic fluid cells.
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PMID:[Prenatal differential diagnosis in elevated alpha-fetoprotein concentration in the amniotic fluid (author's transl)]. 617 38

The qualitative acetylcholinesterase (AChE) test has been used in conjunction with alpha-fetoprotein (AFP) assay on 255 amniotic fluid samples: 191 from normal pregnancies, 44 from abnormal pregnancies (foetal anomalies or intrauterine death). In all cases of normal amniotic fluid obtained before 25 weeks, gel revealed a single major band of non specific cholinesterase, even in fluids contaminated by maternal of foetal blood, whereas 5 fluids contaminated by foetal blood were false positive on AFP. In 8 normal specimens with clear aspect, obtained after 25 weeks, gel revealed a second (AChE) faint band, inhibited by BW 284 C 51. That result shows the risk of false-positive for samples obtained in late pregnancy. All 20 cases of neural tube defect gave a characteristic AChE band: large and intense band. In 9 cases of abdominal wall defect, 3 presented an AChE faint band, just as 2 cases of atresia and 2 cases of hydronephrosis. Negative AChE results were found un 1 case of congenital nephrosis, 3 cases of hydrocephaly and 1 case of teratoma. The main value of qualitative AChE test seems today in diagnosing neural tube defects with a greater sensibility and in classifying bloody fluids in which the AFP is at or above the cut-off level.
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PMID:[Amniotic fluid acetylcholinesterase and prenatal diagnosis of neural tube defects. II. Qualitative test]. 713 Sep 61

Congenital nephrosis is an autosomal recessive disorder requiring neonatal renal transplant for survival. The postnatal diagnosis rests upon the electron microscopic evaluation of the epithelial foot processes and basal membrane of the glomeruli. The prenatal diagnosis can be suspected in the presence of a positive family history with an amniotic fluid (AF) alpha-fetoprotein level greater than 5 standard deviations (SD) above the population mean accompanied by a negative AF acetylcholinesterase, absent haemoglobin F, and an unremarkable fetal sonographic examination. We reviewed our series of seven cases of congenital nephrosis fulfilling the above criteria; four cases had negative family histories, and in two cases the diagnosis of congenital nephrosis was further supported by the presence of elevated AF albumin concentrations. We conclude that (1) the prenatal diagnosis of congenital nephrosis is feasible in a low-risk population, and (2) an elevated AF albumin concentration may represent an additional marker for the diagnosis of congenital nephrosis, even though false-negative results have been reported.
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PMID:Congenital nephrosis in low-risk pregnancies. 752 65


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