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)

Twelve parents of children with genetic diseases (Klinefelter syndrome, trisomy 21, lactase deficiency, phenylketonemia, Noonan syndrome, ichthyosis, Prader-Willi syndrome, and trisomy 13) were tested with the Tennessee Self-Concept Scale prior to and immediately after genetic counseling. Total Positive Score, indicative of self-esteem level, changed significantly. The score increased due to positive changes in the subjects' family, social, moral, physical and psychologic identity, and affect and behavior. This change is interpreted as an improvement in self-concept. Two other changes were only marginally insignificant, however. The Total Conflict decreased and that is a sign of improvement; but the NDS increased. Of the two scores, the NDS is the more powerful indicator and an increase in it is a signal for caution. Self-concept improvement with genetic counseling of parents whose progeny had one of the described diseases has, therefore, been documented. Carefully designed investigations of the future will verify factors which induce psychologic change and effect the management of disease.
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PMID:Genetic counseling and parental self-concept change. 52 11

Intestinal disaccharidases in amniotic fluid were studied in 41 pregnancies with a recurrence risk for cystic fibrosis (CF). In 11 out of 13 pregnancies with CF fetuses the maltase and sucrase activities were either below the control range (8 cases) or below the 10th percentile of control values (3 cases). Trehalase and lactase were slightly less informative indicators of CF. Of the other 28 pregnancies 3 had low amniotic fluid activities of several intestinal enzymes and were terminated, 12 resulted in the birth of a healthy child and 13 are continuing. The findings in fetal CF suggest an impairment of the defaecation of intestinal contents into the amniotic fluid. Reduced or low amniotic fluid disaccharidase activities were also found in other fetal disorders with demonstrated or presumed intestinal anomalies: e.g. anal atresia (2 cases), anencephaly (3 our of the 7 cases), trisomy 13 (5 cases), trisomy 18 (3 of the 5 cases) and trisomy 21 (19 of the 22 cases). Reduced amniotic fluid disaccharidase activities, although not specific for CF, are highly informative in pregnancies at high risk for CF. Using the 10th percentile of the normal range for amniotic fluid disaccharidase activities as an action line, the sensitivity of CF detection is estimated at 80 to 90 per cent, which could in high risk pregnancies reduce the risk of having another affected child from 1 in 4 to 1 in 20.
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PMID:Amniotic fluid disaccharidases in the prenatal detection of cystic fibrosis. 399 66