A study of isoelectric focusing in polyacrylamide gels of serum proteins as a cystic fibrosis screening test

1981 ◽  
Vol 117 (1) ◽  
pp. 103-110 ◽  
Author(s):  
F.M. Hallinan ◽  
D. Kenny ◽  
E. Tempany
Keyword(s):  
Cystic Fibrosis ◽  
Isoelectric Focusing ◽  
Screening Test ◽  
Serum Proteins ◽  
Polyacrylamide Gels ◽  
Cystic Fibrosis Screening

Neonatal cystic fibrosis screening program in the state of Paraná: evaluation 30 months after implementation

10.2223/1345 ◽  
2005 ◽  
Vol 81 (3) ◽  
pp. 240-244
Author(s):  
Grégor P. Chermikoski Santos ◽  
Mouseline T. Domingos ◽  
Ehrenfried O. Wittig ◽  
Carlos A. Riedi ◽  
Nelson A. Rosário
Keyword(s):  
Cystic Fibrosis ◽  
Screening Program ◽  
The State ◽  
Cystic Fibrosis Screening

ISOELECTRIC FOCUSING OF MYOSIN AND OTHER MUSCLE PROTEINS IN POLYACRYLAMIDE GELS

1973 ◽  
Vol 209 (1 Isoelectric F) ◽  
pp. 299-310 ◽  
Author(s):  
James R. Florini ◽  
Rosaria P. Brivio ◽  
Barbara-Anne M. Battelle
Keyword(s):  
Isoelectric Focusing ◽  
Polyacrylamide Gels ◽  
Muscle Proteins

scholarly journals PP-15 CYSTIC FIBROSIS SCREENING TO OPTIMISE EGG AND SPERM DONOR SELECTION

2012 ◽  
Vol 24 ◽  
pp. S10-S11
Author(s):  
Silvia Modamio-Høybjør ◽  
Silvia Fernández ◽  
Raquel Garcia ◽  
Moisés De La Casa ◽  
Ferran Garcia ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Donor Selection ◽  
Sperm Donor ◽  
Cystic Fibrosis Screening

Albumin in the Meconium of Infants with Cystic Fibrosis: A Preliminary Report

PEDIATRICS ◽  
1964 ◽  
Vol 33 (1) ◽  
pp. 115-119
Author(s):  
WILMER C. WISER ◽  
FRANCES R. BEIER
Keyword(s):  
Cystic Fibrosis ◽  
Family History ◽  
Protein Content ◽  
Preliminary Report ◽  
Diagnostic Procedure ◽  
Serum Proteins ◽  
Newborn Infants ◽  
Control Group ◽  
Abnormal Protein ◽  
History Of

Meconium samples were collected from 5 newborn infants, who had a known family history of cystic fibrosis of the pancreas but who did not present with meconium ileus, and 11 normal newborn infants. Extracts of the meconium samples were examined for the presence of serum proteins by paper and immunoelectrophoresis. Three of the infants who had a family history of cystic fibrosis of the pancreas showed protein in their meconium, and this was identified by immunoelectrophoresis as consisting mainly of albumin; each of these babies subsequently developed classic symptoms of cystic fibrosis of the pancreas. The two remaining infants had no albumin in the meconium and did not develop signs of cystic fibrosis. None of the meconium samples of the control group of infants contained detectable amounts of albumin. Possible sources of the abnormal protein content of meconium are discussed, and the suggestion that the finding of albumin in meconium of newborn infants may prove to constitute a valuable diagnostic procedure for screening newborn infants for cystic fibrosis of the pancreas is advanced.

Optimal Genetic Screening for Cystic Fibrosis

2021 ◽  
Author(s):  
Hussein El Hajj ◽  
Douglas R. Bish ◽  
Ebru K. Bish
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Variants ◽  
Genetic Screening ◽  
Genetic Diseases ◽  
The United States ◽  
Published Data ◽  
Decision Support Model ◽  
Screening Process ◽  
Public Health Initiative ◽  
Cystic Fibrosis Screening

Improving Newborn Screening for Genetic Diseases Screening newborns for life-threatening genetic diseases is an important public health initiative. Cystic fibrosis is one of the most prevalent diseases in this context. As part of the cystic fibrosis screening process, all states in the United States use multiple tests, including genetic tests that detect a subset of the more than 300 genetic variants (specific mutations) that cause cystic fibrosis. In “Optimal Genetic Screening for Cystic Fibrosis,” El-Hajj, D.R. Bish, and E.K. Bish develop a decision support model to select which genetic variants to screen for, considering the trade-off between classification accuracy and testing cost, and the technological constraints that limit the number of variants selected. Because variant prevalence rates are highly uncertain, a robust optimization framework is developed. Further, two commonly used cystic fibrosis screening processes are analytically compared, and conditions under which each process dominates are established. A case study based on published data are provided.

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