Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.2.1.108 (lactase)
 2,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Screening for cystic fibrosis (CF) in newborns is desirable, and efforts should continue in establishing a system of easily available, reliable, simple, and inexpensive tests. In addition to the Boehringer-Mannheim (BM) test for the detection of albumin, we propose the assay for lactase and beta-D-fucosidase in meconium. These latter two enzymes are present in the meconium of babies with CF and absent in meconium of most healthy babies. In a mass screening program for CF involving 20,182 specimens of meconium using only the BM strip, we found 46 positive results. Twenty-nine specimens came from infants with CF, six of whom had meconium ileus. Seventeen specimens yielded false-positive results by the BM test. Eleven of these would have been excluded by the addition of the lactase and beta-D-fucoside assay, thus reducing the false-positive test results by nearly 61%. In a comparative study of the three methods, the lactase and beta-D-fucosidase yielded 1.2% false-positives when examined independently. Performance of these two assays may allow greater specificity in diagnosis when used in addition to the BM test.
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PMID:Studies in meconium. An approach to screening tests to detect cystic fibrosis. 10 86

To verify to what extent mutation analysis on blood spot could improve cystic fibrosis neonatal screening in an area with high allelic heterogeneity, we designed a special protocol. Spot trypsin estimation at birth, trypsin re-testing after 1 month, meconium lactase testing and mutation analysis of delta F508, R1162X and N1303K, were retrospectively clustered according to different patterns (trypsin/lactase/mutation; trypsin/lactase/re-testing; trypsin/mutation) and compared. The programme, which lasted 2 years (1993-94) and covered most of North-eastern Italy, included 95,553 screened newborns. Thirty-four affected babies were detected by screening and one by meconium ileus (incidence 1/2730). The combined use of trypsin, lactase and mutation analysis in cystic fibrosis neonatal screening permits a better sensitivity compared to the two other combinations (34 diagnoses vs 32 in both cases). Moreover, the higher specificity of the former method (false positives 42 vs 148) allows a reduction of recalls, which cause considerable anxiety. We confirm in trypsin-positive newborns an increased frequency of cystic fibrosis heterozygotes (1/17).
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PMID:Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity. 918 89

A 50-year-old man was admitted to our hospital for an adhesive ileus 14 years after total abdominal colectomy for ulcerative colitis (UC). The ileus decreased with conservative treatment, however, autoimmune hemolytic anemia (AIHA) was diagnosed due to worsening anemia, a positive direct Coombs test, low haptoglobin, high lactase dehydrogenase, reticulocytosis, and an increase in the erythroblastic series in a bone-marrow examination. Human parvovirus B19 (PV-B19) IgM and PV-B19 DNA were present, indicating the development of AIHA triggered by an infection with PV-B19. The patient is currently being monitored after spontaneous remission. This is the first report of UC after total abdominal colectomy complicated by AIHA triggered by PV-B19 infection.
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PMID:Autoimmune Hemolytic Anemia Triggered by Infection with Human Parvovirus B19 after Total Abdominal Colectomy for Ulcerative Colitis. 2698 90