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 case of junctional epidermolysis bullosa, Herlitz variant, and pyloric atresia in a 33 weeks' gestation male infant is reported. The second trimester amniotic fluid exhibited elevated concentrations of alpha-fetoprotein and presence of acetylcholinesterase; however, the fetus appeared anatomically normal by multiple high-resolution ultrasound examinations. This case, as well as others previously reported, shows that serious fetal skin disease should be considered as part of the differential diagnosis whenever persistent elevation of alpha-fetoprotein and presence of acetylcholinesterase are found in the amniotic fluid of a fetus that appears anatomically normal by ultrasound. Prenatal diagnosis may be established by fetal skin biopsy and extensive prenatal counseling should be offered to families on the basis of the prognosis and severity of this disease.
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PMID:Role of elevated alpha-fetoprotein in prenatal diagnosis of junctional epidermolysis bullosa and pyloric atresia. 752 13

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

We present a catastrophic case of aplasia cutis congenita from a pregnancy complicated by elevated maternal serum and amniotic fluid alpha-fetoprotein levels and a positive acetylcholinesterase. Delivery occurred at 27 weeks 1 day after premature rupture of membranes with chorioamnionitis. The neonate lacked > 90% of its skin and died.
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PMID:Aplasia cutis congenita: a rare cause of elevated alpha-fetoprotein levels. 753 47

Prenatal diagnosis of dystrophic epidermolysis bullosa (DEB) has been achieved in the past by fetal skin sampling. However, this invasive procedure is associated with a relatively high rate of pregnancy loss. We present a consanguineous Arab family ascertained by 2 affected offspring to be at risk for DEB. In a previous gestation, fetoscopic skin sampling for prenatal diagnosis yielded a false-positive result. In the index pregnancy, abnormally elevated amniotic fluid alpha-fetoprotein (13.7 MOM) and positive acetylcholinesterase were highly suggestive of an affected fetus. Fetal skin biopsy was declined. At term, the patient delivered a male infant with DEB that expired on the 3rd day of life. It is apparent from our experience and from review of the literature that in some genodermatoses, markedly elevated alpha-fetoprotein and positive acetylcholinesterase in amniotic fluid are highly suggestive of an affected fetus and may obviate the need for fetal skin sampling in the prenatal diagnosis of these disorders.
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PMID:Markedly elevated alpha-fetoprotein and positive acetylcholinesterase in amniotic fluid from a pregnancy affected with dystrophic epidermolysis bullosa. 753 5

A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid-trimester serum and amniotic fluid alpha-fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha-fetoprotein, positive amniotic fluid acetylcholinesterase, and normal ultrasound findings.
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PMID:Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha-fetoprotein. 768 Apr 72

Amniotic fluid samples received for routine prenatal diagnosis of open neural tube defects were used for a study to compare amniotic fluid acetylcholinesterase (AChE) determination using a monoclonal antibody (4F19) enzyme antigen immunoassay and amniotic fluid alpha-fetoprotein (AFP) measurement as diagnostic tests for open neural tube defects. The study was based on 9964 women with singleton pregnancies and known outcome (including 6 with anencephaly and 18 with open spina bifida) having an amniocentesis at 14-23 weeks of gestation. The AChE immunoassay yielded detection rates for anencephaly of 100 per cent (95 per cent confidence interval (CI) 54.07-100 per cent), for open spina bifida of 100 per cent (95 per cent CI 81.47-100 per cent), for anterior abdominal wall defects of 20 per cent (95 per cent CI 0.51-71.64 per cent), and a false-positive rate of 0.22 per cent (95 per cent CI 0.14-0.34 per cent) excluding anencephaly, open spina bifida, and anterior abdominal wall defects. For similar detection rates the false-positive rate of the AFP test was significantly higher, 0.74 per cent (95 per cent CI 0.58-0.94 per cent). On the basis of these findings, it is recommended that the technically simple AChE immunoassay should be used on all samples; the AFP test should only be used on the 0.5 per cent of the samples with concentrations of AChE activity > or = 8.5 nkat/l for clear samples and blood-stained samples becoming clear after centrifugation, and > or = 25.0 nkat/l for blood-stained samples that are discoloured after centrifugation; an AFP cut-off level of 2.0 MOM is recommended for this policy. Thereby, the detection rates for anencephaly, open spina bifida, and anterior abdominal wall defects would be 100, 100, and 20 per cent, respectively (95 per cent CIs 54.07-100, 81.47-100, and 0.51-71.64 per cent, respectively), and the false-positive rate would be 0.08 per cent (95 per cent CI 0.03-0.16 per cent) (excluding anencephaly, open spina bifida, and anterior abdominal wall defects).
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PMID:A comparison of amniotic fluid alpha-fetoprotein and acetylcholinesterase in the prenatal diagnosis of open neural tube defects and anterior abdominal wall defects. 768 80

The aims of the studies reviewed were 1) to identify the molecular forms of acetylcholinesterase encountered in amniotic fluid from pregnancies with a normal fetus and those with a fetal open neural tube defect or other fetal malformation and, 2) to raise and characterize antibodies against human acetylcholinesterase and to identify those useful for immunochemical determination of amniotic fluid acetylcholinesterase where there is a fetal open neural tube defect. Eleven monoclonal antibodies and one polyclonal rabbit antibody were evaluated with regard to their clinical usefulness in the antenatal diagnosis of open neural tube defects. One of these, the monoclonal antibody 4F19, preferentially bound acetylcholinesterase from human brain and identified better than the others amniotic fluid samples from pregnancies with a fetal open neural tube defect (I, II). The monoclonal antibody 4F19 was used in an enzyme antigen immunoassay whose performance was found to be similar to that of the polyacrylamide electrophoretic gel test for acetylcholinesterase determination (III). However, the 4F19 enzyme antigen immunoassay is simpler, more rapid and less technically demanding than the gel test, and furthermore, it gives a quantitative result. The 4F19 enzyme antigen immunoassay was also compared with the alpha-fetoprotein test, normally used as the primary test for the antenatal diagnosis of open neural tube defects. The 4F19 enzyme antigen immunoassay performed better than the alpha-fetoprotein test, but the best performance was found for a combination of the two tests (VI). A positive result can be found using the combined tests for conditions other than open neural tube defects, e.g. abdominal wall defects, intrauterine fetal death and other fetal malformations. These conditions can often be discerned by ultrasound examination. However, combining the result of the 4F19 enzyme antigen immunoassay with the result of an enzyme antigen immunoassay for butyrylcholinesterase makes a discrimination between these conditions possible (V). The diagnostic implications of the above procedures are evaluated and specific recommendations concerning their use are given.
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PMID:Immunochemical determination of amniotic fluid acetylcholinesterase in the antenatal diagnosis of open neural tube defects. 772 70

Serum cholinesterase (ChE) (E.C. 3.1.1.8) is a glycoprotein which has 36 potential sites of asparagine-N-linked sugar chains. The structures of oligosaccharides released from ChE on hydrazinolysis were studied by serial lectin affinity column chromatography, exoglycosidase digestion, and methylation analysis. Seventy-three % of the sugar chains occurred as biantennary oligosaccharides and the remainder as C-2 and C-2,4/C-2,6 branched tri- and tetraantennary oligosaccharides. Several percentages of the Lewis X antigenic determinant and fucosylated mannose core were linked to them, and their sialic acid residues were linked to nonreducing terminal galactose residues at the C-3 and C-6 positions. Aleuria aurantia lectin-reactive ChE with the Lewis X antigenic determinant increased in hepatocellular carcinomas and liver cirrhosis compared with chronic hepatitis; on the other hand, Aleuria aurantia lectin-reactive ChE did not change significantly after transcatheter arterial embolization and was not related to the serum levels of alpha-fetoprotein and carcinoembryonic antigen in patients with hepatocellular carcinomas. Accordingly, the analysis of Aleuria aurantia lectin-reactive ChE is clinically useful for differentiating liver cirrhosis from chronic hepatitis and to identify high risk groups for hepatocellular carcinomas, i.e., cirrhotic patients in Child's A grade.
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PMID:Increase of fucosylated serum cholinesterase in relation to high risk groups for hepatocellular carcinomas. 826 62

Amniocentesis performed at 16 to 18 weeks' gestation has been the gold standard approach for prenatal cytogenetic diagnosis. Over the past few years, large collaborative studies on chorionic villus sampling have confirmed the safety and efficacy of chorionic villus sampling as a viable alternative for women seeking prenatal diagnosis. While the expanding experience with chorionic villus sampling has answered questions regarding the safety of the transabdominal approach, it has also raised questions concerning possible associations with limb abnormalities, its usefulness in multiple gestations, and the clinical significance of confined placental mosaicism. These issues, as well as the technical and gestational age limitations of chorionic villus sampling, have led many investigators to study the technical feasibility, safety, and accuracy of amniocentesis performed in the first trimester or early second trimester. While this approach appears both safe and efficacious, there are concerns regarding orthopedic abnormalities and the reliability of first-trimester amniotic fluid acetylcholinesterase and alpha-fetoprotein levels in the diagnosis of neural tube defects.
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PMID:Amniocentesis and chorionic villus sampling. 849 91

Normal ranges of amniotic fluid alpha-fetoprotein (AFP) and acetylcholinesterase activity (AChE) are described for gestational weeks 11-14 using rocket gel immunoelectrophoresis for AFP quantitation and a monoclonal antibody (4F19) enzyme antigen immunoassay for AChE activity measurement. The normal ranges were established by the examination of 281 amniotic fluid samples from 281 normal pregnancies. AFP was found to increase from a median level of 14.0 MIU/l at 11 weeks to a maximum at 13 weeks (median = 18.0 MIU/l) (P < 0.05), thereafter falling (not significant). No AChE test result exceeded 4.8 nkat/l. In addition, AFP and AChE values for three cases of fetal malformation, identified by the biochemical analyses of amniotic fluid, are given. These cases included two fetuses with a neural tube defect and one fetus with an abdominal wall defect. Amniocentesis was performed at 10, 11, and 14 weeks, respectively. The AFP and AChE values were all high.
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PMID:Alpha-fetoprotein and acetylcholinesterase activity in first- and early second-trimester amniotic fluid. 853 21


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