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G Scheuerbrandt

Publications and source records attributed to G Scheuerbrandt.

15 recordsLinked to original sources
PubMed1990

A model for molecular screening of newborns: simultaneous detection of Duchenne/Becker muscular dystrophies and cystic fibrosis.

Gene mutations responsible for the majority of Duchenne/Becker muscular dystrophy (DMD/BMD) and cystic fibrosis (CF) chromosomes have been identified. We describe a DNA-based strategy, rather than the traditional biochemical assays, for screening newborns. DNA sequences spanning the CF mutation and several DMD/BMD deletion-prone exons are amplified simultaneously via a multiplex polymerase chain reaction. The gel is visually inspected for DMD/BMD deletions and then blotted and hybridized with allele-specific oligonucleotides to determine the presence or absence of the CF mutation. We determined that blood spots provide sufficient DNA for the molecular analysis, so the procedure can be used in screening programs of newborns.

Base Sequence↗
PubMed1986

Screening for Duchenne muscular dystrophy: an improved screening test for creatine kinase and its application in an infant screening program.

A kinetic bioluminescence assay with optimized reagent conditions has been developed for application as a screening test for increased creatine kinase (CK) activities in dried blood spots. This test is used for the early detection of Duchenne muscular dystrophy (DMD) in a voluntary CK screening program in West Germany. Of the 176,600 boys tested up to December 31, 1984, 48 who were less than 6 months old had certain or probable DMD (frequency 1: 3679). In 1983 and 1984, the rate of false positive results was 0.016% for a cut-off activity 300 U/liter and 0.061% for a cut-off activity 180 U/liter. Long-term counseling is offered to families of newly detected DMD patients in order to facilitate the aims of the screening program, namely, avoidance of secondary cases in affected families, early professional care for the sick child, and the early opportunity to make the appropriate decisions for a life with an handicapped child. Two types of a benign hereditary blood anomaly were also detected by CK screening (CK-BB inside erythrocytes or thrombocytes).

Age Factors↗
PubMed1982

Feasibility of neonatal screening for Duchenne muscular dystrophy.

During the period November 1976 to September 1980, 2703 babies born in one Edinburgh hospital were screened in the neonatal period by estimation of their serum creatine kinase levels for Duchenne muscular dystrophy. Among the 2336 male babies tested, none proved to be affected and only 16 required second specimens to be obtained. Overall the false positive rate in the study was 0.78%. This study confirms that neonatal screening for Duchenne muscular dystrophy is feasible in a British hospital setting and is here most conveniently carried out on the 5th day of life along with routine testing for phenylketonuria.

Creatine Kinase↗
PubMed1979

[Screening for elevated creatine kinase activities for the early diagnosis of Duchenne muscular dystrophy].

A screening test for the determination of creatine kinase in a dry spot of the whole blood is used for the early identification of boys with Duchenne muscular dystrophy and girls with carrier properties of this hereditary disease. In the absence of an effective medical therapy, such screening leads to genetic counselling of the affected families with the purpose of avoiding the birth of further cases of Duchenne muscular dystrophy in the same families. The first results of a voluntary screening program in Germany are discussed.

Creatine Kinase↗
PubMed1978

Creatine kinase in human erythrocytes: a newly detected genetic anomaly.

In a family of Italian origin, we found four members with a considerable activity of creatine kinase inside their erythrocytes. All other clinical and hematological findings were normal. The enzyme anomaly seems to be inherited in the autosomal mode. The creatine kinase CK) activity in freshly drawn blood was about 12 U/g Hb. The activity was higher in young red cells than in older ones. Studies with specific antibodies against human CK isoenzymes revealed the CK activity in the probands' red cells to be due to about 90% to the BB-isoenzyme normally found in brain and nerve tissue. The presence of CK in the erythrocytes does not seem to have any consequences for the energy metabolism of the cells. Creatine concentration was slightly elevated, but creatine phosphate could not be detected.

Adult↗