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Biomedical subjects

E M Petersen

Publications and source records attributed to E M Petersen.

At least 19 recordsLinked to original sources
PubMed1992

Piroxicam spares buprenorphine after total joint replacement. Controlled study of pain treatment in 81 patients.

In a blinded, placebo-controlled study, the nonsteroidal antiinflammatory drug piroxicam, in combination with the partial morphine agonist/antagonist buprenorphine, was compared with buprenorphine alone for analgesic effect and side-effects in a 10-day period following total replacement of the hip or knee. 117 patients entered and 81 completed the study. The patients receiving piroxicam consumed less buprenorphine. There were no differences concerning side-effects between the two treatment groups, apart from a tendency towards less nausea after the third postoperative day in the group receiving piroxicam.

Buprenorphine↗
PubMed1992

First reported case of alpha-mannosidosis in the RSA.

The first known case of alpha-mannosidosis in the RSA is reported. Presentation was classic, viz. delayed speech, kyphoscoliosis and hearing loss at the age of 4 years. Among the generally rare inherited lysosomal storage diseases, alpha-mannosidosis is regarded in Europe and the USA as one of the more common disorders. It is suggested that the apparent underdiagnosis in South Africa may stem from lack of clinical recognition of a condition, which is relatively simple to diagnose biochemically. The clinical and radiological features of the child are described in the hope that clinicians will develop an awareness of the disorder, and include it in the differential diagnosis of deaf children who may also have mild skeletal abnormalities. Antenatal diagnosis of this untreatable condition is possible, so the birth of further affected children in a family could be prevented.

Child, Preschool↗
PubMed1991

Preventing cystic fibrosis in the RSA.

Prenatal diagnostic testing for cystic fibrosis (CF) in South Africa has been available by microvillar enzyme (MVE) assay since 1984 and by DNA investigation since 1987. The advantages and practical uses of these two procedures are reviewed. Over the period 1984-1989, 59 MVE assays and 13 DNA investigations (1 woman had both done; total number of pregnancies tested 71) were performed for the prenatal diagnosis of CF in high-risk families. Of the 71 pregnancies tested (65 white woman, 4 mixed race and 2 Indian), 18 fetuses were found to be affected: of these, 15 couples chose to have the pregnancies terminated. In 2 fetuses tested the MVE assays were 'equivocal' and the babies were born affected. By using population genetic and demographic data it is estimated that the present rate of prenatal diagnosis and prevention satisfies about one-quarter of the projected and practically achievable annual need. It is also tentatively shown that only about 60% of the projected number of high-risk families are at present on record. It is concluded that more systematic efforts should be directed at carefully guided information and awareness campaigns, in order to draw more CF families into the mainstream of voluntary genetic services. The identification and cloning of the CF gene (in 1989) has made it possible to extend considerably the present strategy of prevention and to include lower-risk and extended CF families in due time.

Amniotic Fluid↗
PubMed1991

Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts.

We have investigated several parameters of glucocerebrosidase in cultured skin fibroblasts from patients with various clinical phenotypes of Gaucher disease. In this study no strict correlation was found between the clinical manifestations of Gaucher disease and the parameters investigated in fibroblasts. These parameters included the specific activity of the enzyme in extracts towards natural lipid and artificial substrate in the presence of different activators; the enzymic activity per unit of glucocerebrosidase protein; the rate of synthesis of the enzyme and its stability; and the post-translational processing of the enzyme. In addition, the activity in situ of glucocerebrosidase in fibroblasts was investigated using a novel method by analysis of the catabolism of NBD-glucosylceramide in cells that were loaded with bovine serum albumin-lipid complexes. Again, no complete correlation with the clinical phenotype of patients was detectable. Glucocerebrosidase in fibroblasts from most non-neuronopathic (type 1) Gaucher disease patients differs in some aspects from enzyme in cells from patients with neurological forms (types 2 and 3). The stimulation by activator protein and phospholipid is clearly more pronounced in type 1 than in types 2 and 3; the enzymic activity per unit of glucocerebrosidase protein in type 1 is severely reduced in the presence of taurocholate and the amount of glucocerebrosidase appears (near) normal in contrast to the situation in types 2 and 3 Gaucher fibroblasts. However, this distinction was not always consistent; glucocerebrosidase in fibroblasts from some type 1 Gaucher patients, particularly some South African cases, was comparable in properties to enzyme in type 2 and 3 patients.

Cathepsin D↗
PubMed1989

Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins.

The molecular nature of lysosomal alpha-glucosidase deficiency was studied in five South African families with glycogenosis type II. Distinct ethnic origins were represented. Two new mutant acid alpha-glucosidase alleles were discovered. In two infantile patients from a consanguineous Indian family we found for the first time an acid alpha-glucosidase precursor of reduced size. The mutant precursor appeared normally glycosylated and phosphorylated but was not processed to mature enzyme. Abnormalities of the mRNA were not obvious, but digestion of genomic DNA with HindIII, BglII, and StuI revealed for each enzyme a fragment of increased length. Heterozygosity was demonstrated in the parents. Complete lack of acid alpha-glucosidase mRNA, as well as deficiency of precursor synthesis, was observed in two black baby girls from unrelated families. In these cases the length of all restriction-enzyme fragments was normal. Reduced enzyme synthesis but normal processing was registered in juvenile and young adult Cape colored patients. The extensive heterogeneity of glycogenosis type II is emphasized in these studies on various ethnic groups. The newly discovered mutants are valuable for the understanding of clinical diversity as a result of allelic variation.

Adolescent↗
PubMed1987

Morquio's disease type B (beta-galactosidase deficiency) in three siblings.

The clinical and biochemical findings in 3 siblings with Morquio's disease type B (mucopolysaccharidosis (MPS) IV B) are presented. Their phenotype is characterised by short trunk dwarfism with kyphoscoliosis and thoracic deformity. Radiographic findings include general platyspondyly, dysplasia of the pelvis and epiphyseal abnormalities. The patients are of normal intelligence. In the urine of all 3 affected children abnormal oligosaccharide excretion was found by thin-layer chromatography and in 1 of them keratosulphaturia was detected. The clinical diagnosis was confirmed biochemically by demonstration of a profound deficiency of beta-galactosidase activity in cultured fibroblasts. The clinical picture is compared with that of other cases in the literature and the possible molecular basis of the different phenotypes of beta-galactosidase deficiency (variants of monosialo-ganglioside-1 (GM1)-gangliosidosis, Morquio's disease type B) is discussed.

Adolescent↗
PubMed1986

Sanfilippo's syndrome type C--the first known case in South Africa.

The clinical, radiological and biochemical findings in a black girl with a rare, inherited mucopolysaccharide storage disease, Sanfilippo's syndrome (mucopolysaccharidosis (MPS) III) type C, are described. Practical points concerning the biochemical diagnosis of this condition, arising from unusual characteristics of the deficient enzyme acetyl CoA: alpha-glucosaminide N-acetyltransferase, are discussed. Because phenotypic manifestations of mucopolysaccharidosis are mild in all four types of Sanfilippo's syndrome and screening tests for mucopolysacchariduria in these patients may be negative, many cases may be passed unrecognized or simply labelled as cases of nonspecific mental retardation. It is suggested that Sanfilippo's syndrome is grossly underdiagnosed in the RSA and clinicians are urged to develop a greater awareness of the existence, and often subtle presentation, of the condition.

Acetyltransferases↗
PubMed1984

Prenatal diagnosis of cystic fibrosis in South Africa.

Prenatal diagnosis of cystic fibrosis (CF) has been made possible by the finding that the activity of various enzymes derived from the microvillar membranes of the fetus is decreased in 2nd trimester amniotic fluid. Gamma-glutamyl transpeptidase, aminopeptidase M and the phenylalanine-inhibitable form of alkaline phosphatase (AP) have been found to be of most diagnostic use in this respect, the odds of the fetus being affected with CF being 28:1 if the AP test is positive. When couples have already had a child with CF, pregnancies are being monitored by these methods at the University of Cape Town.

Alkaline Phosphatase↗
PubMed1983

Gaucher's disease in the black population of South Africa. A case report.

The diagnosis of the non-neuropathic form of Gaucher's disease was confirmed by haematological and enzymatic investigations in a Black girl. The aetiological relationship of this condition with Gaucher's disease in other populations is uncertain, but lack of expression of the enzyme defect in the white blood cells in our patient might be significant in this context. This case serves to emphasize that Gaucher's disease enters into the differential diagnosis of unexplained splenomegaly, irrespective of the ethnic background of the affected person.

Adolescent↗
PubMed1982

Genetic heterogeneity in type I Gaucher disease.

Electrophoresis of the beta-glucosidase isozymes from various normal human sources revealed that cultured fibroblasts expressed only the acid beta-glucosidase isozyme. Therefore, selected physical and kinetic properties of the residual acid beta-glucosidase activities in fibroblasts from Gaucher Type 1 homozygotes of various ethnic backgrounds were compared. The findings of different specific activities, thermostabilities, apparent Km values, and electrophoretic migrations of the residual activities from the ethnic variants provided the first biochemical evidence of genetic heterogeneity in Type 1 Gaucher disease.

Cells, Cultured↗
PubMed1980

Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report.

An infant with hypotonia, gross cardiomegaly and heart failure is described. Angiocardiography revealed a hypertrophic restrictive cardiomyopathy. The diagnosis of type II glycogenosis was confirmed by the total absence of alpha-1,4-glucosidase in cultured skin fibroblasts. It is now possible to offer prenatal diagnosis by amniocentesis to women at risk of having affected children.

Clinical Enzyme Tests↗
PubMed1978

Antenatal diagnosis in practice.

Over a period of 5 years, 434 women at risk of having abnormal babies have had antenatal daignostic tests carried out during the first half of their pregnancy by the laboratories of the Department of Human Genetics, University of Cape Town. From these investigations, it was predicted that 13 fetuses had chromosomal abnormalities, 6 had severe central nervous system defects and 4 had autosomal recessive metabolic disorders. In addition, 4 cases with X-linked recessive traits were monitored and 3 male fetuses were recognized. Affected pregnancies were terminated except for 1 with a fetal sex-linked disorder where the parents revoked their original decision. The diagnosis was confirmed by fetal autopsies in all cases except 4 (2 spontaneous abortions and 2 out-of-town terminations). There was only 1 case where culture failed and the pregnancy went to term with the birth of a baby with Down syndrome. Antenatal diagnosis is now an important part of normal clinical practice. The fact that the fetal abnormalities were recognized in 6% of pregnancies is justification for the use of this procedure.

Amniocentesis↗
PubMed1978

Krabbe's disease in an infant and her fetal sibling. A case report.

Degenerative diseases of the cerebral white matter are rare, but have severe consequences. The diagnosis of one such disorder, Krabbe's disease, may be made by biochemical analysis of cultured fibroblasts. As the disease is inherited as an autosomal recessive trait, there is a high risk of affected children being born to a heterozygote couple. A description is given of an infant with Krabbe's disease and of the monitoring of the mother's second pregnancy in which an affected fetus was found.

Amniotic Fluid↗