Fluorescent spot test for detecting carbohydrate-splitting enzymes in meconium.

1981 ◽  
Vol 27 (3) ◽  
pp. 388-390 ◽  
Author(s):  
M C Hsieh

Abstract I describe a fluorescent spot test for detecting the acidic glycosidases in meconium. Meconium is mixed with various 4-methylumbelliferylglycosides at the appropriate pH. In the presence of carbohydrate-splitting enzymes, 4-methylumbelliferone, a strongly fluorescent compound, is released. The reaction mixture, when spotted on chromatography paper and viewed under ultraviolet light, exhibits a bright fluorescence for specimens containing acidic glycosidases. The technique is applicable to any test that involves production of fluorescent products from non-fluorescent reactants. The procedure was applied to meconium specimens selected because of increased albumin content known to be associated with cystic fibrosis in newborns. The presence of beta-D-fucosidase in meconium was correlated to increased albumin content. Detection of beta-D-fucosidase by the present procedure may be useful as a screening test for cystic fibrosis.

1982 ◽  
Vol 28 (4) ◽  
pp. 615-617 ◽  
Author(s):  
A P Orfanos ◽  
E W Naylor ◽  
R Guthrie

Abstract We describe a fluorescent spot test for detecting alpha 1-antitrypsin activity in dried-blood specimens. The eluate of a blood disc is mixed with carbobenzoxy-L-arginine-7-amino-4-methylcoumarin amide and trypsin at the appropriate pH. In the absence of alpha 1-antitrypsin, aminomethylcoumarin, a strongly fluorescent compound, is released. The reaction mixture, when spotted on chromatography paper and viewed under ultraviolet light, exhibits a bright fluorescence only in the case of specimens with alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin activity so estimated correlated well with quantitative assays of dried-blood spots and serum. The procedure is simple and inexpensive, and has the potential for use as a screening test.


1985 ◽  
Vol 152 (1-2) ◽  
pp. 135-142 ◽  
Author(s):  
E. Solem ◽  
C. Pirzer ◽  
M. Siege ◽  
F. Kollmann ◽  
O. Romero-Saravia ◽  
...  

PEDIATRICS ◽  
1975 ◽  
Vol 55 (1) ◽  
pp. 35-38
Author(s):  
U. Stephan ◽  
E.-W. Busch ◽  
H. Kollberg ◽  
K. Hellsing

The effectiveness of meconium screening for albumin as an indication of cystic fibrosis is examined. BM-Test Meconium was applied to 69,000 investigations. In 60 positive tests, cystic fibrosis was confirmed later. No increased albumin content was observed in four cases of (Received May 24; revision accepted for publication August 21, 1974.)


PEDIATRICS ◽  
1959 ◽  
Vol 23 (4) ◽  
pp. 731-737
Author(s):  
Louis Gluck

A simple patch test, designed as a screening test for cystic fibrosis of the pancreas, is reported in preliminary form. In trials carried out with 207 patients it has proved accurate and reliable. A brief resume of the physiology of sweating, especially as pertinent to diagnostic methods in pediatrics, is also presented. Studies are in progress aiming toward further refinement of this method.


2018 ◽  
Vol 28 (2) ◽  
pp. 29566
Author(s):  
Magali Santos Lumertz ◽  
Ângela De Moura ◽  
Leonardo Araújo Pinto ◽  
Paulo Augusto Moreira Camargos ◽  
Paulo José Cauduro Marostica

AIMS: To compare clinical, laboratory and spirometric parameters of preschoolers (ages from three to six years old) with cystic fibrosis identified by abnormal newborn screening test (NS group), with data of patients whose diagnostic suspicion arose from characteristic clinical signs and symptoms (CS group).METHODS:  Retrospective cohort study, with a sample obtained from the medical charts of patients who received specialized and multidisciplinary outpatient follow-up. All the included children had a confirmed diagnosis of cystic fibrosis by sweat electrolyte testing and/or genetic sequencing. Variables included sex, weight, height, body mass index, number of hospitalizations per year, Pseudomonas aeruginosa colonization, presence of pancreatic insufficiency and Shwachman score, which covers four domains: general activity, nutrition, radiological examination and physical evaluation, each one scored between 5 and 25 points. A total score ≤40 points indicates severe state, and ≥86 points indicates excellent state. For comparison of pulmonary function, data from the last spirometry performed before the age of six years were used. Outcomes were compared by chi-square or Student's t test, with a significance limit of 0.05.RESULTS: Twenty-four patients were included in the study, seven children in the NS group and 17 children in the CS group. The children of the NS group started follow-up with a mean age of 1.51±2.04 months, and those of the CS group started with 3.77±1.80 months (p=0.014). The mean Shwachman score was 94.40±2.19 in the NS vs. 87.67±8.00 in the CS group (p=0.018). The mean Z score for body mass index was 0.95±1.02 in the NS group vs. 0.51±1.05 in the CS group (p=0.051). Spirometric variables had slightly higher values in the NS group, with no statistically significant difference between groups.CONCLUSIONS: The results suggest that those patients diagnosed with cystic fibrosis from the neonatal screening test suspicion benefited from an early intervention, being able to initiate pulmonary function tests and receive treatment and counseling earlier. Evaluation of clinical parameters with the Shwachman score showed that benefits could be already observed at the preschool age.


1994 ◽  
Vol 219 (1) ◽  
pp. 53-60 ◽  
Author(s):  
K.C.S. Chen ◽  
L. Chen ◽  
J.Y. Lin

Sign in / Sign up

Export Citation Format

Share Document