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Biomedical subjects

F Booth

Publications and source records attributed to F Booth.

At least 19 recordsLinked to original sources
PubMed1993

Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy.

In a pilot neonatal screening programme for Duchenne muscular dystrophy (DMD) conducted in the Canadian province of Manitoba, a cohort of eight affected males was identified between 1 January 1986 and 31 December 1989. Demographic information, knowledge of DMD, reproductive outcome, and attitudes to prenatal diagnosis and neonatal screening for DMD were obtained through questionnaires distributed in May 1992 to the eight sets of parents of index cases, two high probability carrier aunts, and one high probability carrier sister. Personal interviews were subsequently conducted in the summer of 1992. Although there is overall consensus among the families in favour of routine neonatal screening for DMD, five of seven subsequent pregnancies reported in six women were not monitored by prenatal diagnosis and have resulted in the birth of two affected boys. In a comparable time interval, prenatal diagnosis was acceptable to carrier females whose affected male relatives were traditionally diagnosed at four or five years. We conclude that, although molecular genetic analysis now allows for precise diagnosis of DMD, highly accurate carrier testing and prenatal diagnosis, very early DMD carrier identification, and genetic counselling after the identification of DMD males in a population based neonatal screening programme may not be an effective way of decreasing the number of repeat cases of DMD within families or the overall population frequency of DMD.

Adolescent↗
PubMed1990

Enhanced conditions for DNA fingerprinting with biotinylated M13 bacteriophage.

Deoxyribonucleic acid (DNA) fingerprints are Southern blots which have a pattern resembling bar codes. The pattern is created by DNA probes that bind to variable-length repeated sequences of human genomic DNA digested with restriction endonucleases. To improve DNA fingerprints obtained with biotin-labeled M13mp8 replicative form (RF) bacteriophage as the gene probe, the conditions for hybridization and the subsequent washing steps of the filter were refined. Experiments were conducted varying the electrophoresis time, blotting membranes, hybridization solution, and posthybridization washes. The simplicity, sensitivity, and reliability of this nonistopic technique make possible its application for identification of individuals within a species, for parentage testing, and for monitoring bone marrow transplantation.

Bacteriophages↗
PubMed1988

Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba.

We report 14 cases of a severe familial leukoencephalopathy among native North American Indian infants in northern Quebec and Manitoba. Affected infants have hypotonia and mild motor delay, followed by seizures, hypotonia or spasticity, eye deviation, and abnormal posture during a febrile illness around 6 months of age. Death follows a rigid, vegetative state that manifests days to months after disease onset and is marked in some cases by prominent autonomic disturbances, blindness, and cessation of head growth. Symmetrical hemispheric white matter lucencies and diffuse hypomyelination of the cerebral hemispheres and brainstem are the radiological and pathological hallmarks. This disease differs from the known diseases of cerebral myelin. An autosomal recessive pattern of inheritance awaits statistical confirmation. The proposed cause is a delay in development or abnormal turnover of central nervous system myelin.

Brain↗
PubMed1988

Intraarticular and intraperitoneal administration of etoposide in haematological malignancy.

Etoposide is frequently used in the treatment of a wide variety of malignant disorders. Administration is usually by intravenous infusion, but etoposide can also be given by mouth, by intraarterial infusion and by direct instillation into the pleural cavity. Two patients are described who were treated with injections of etoposide into the peritoneal cavity and knee joint, respectively.

Aged↗
PubMed1987

An in vitro model for the study of acute release of von Willebrand factor from human endothelial cells.

An in vitro model is described which utilizes human umbilical vein endothelial cells cultured on plastic microcarrier spheres and perfused with serum-free medium. This model was used to study the acute release of von Willebrand factor following stimulation of the cells with putative agonists. Thrombin, plasmin and interleukin-1 were found to release von Willebrand factor. Adrenaline and bradykinin also stimulated release but only at high dosage. 1-desamino-8-D-arginine vasopressin (DDAVP) was inactive.

Bradykinin↗
PubMed1986

L-carnitine treatment in glutaric aciduria type I.

Patients with organic aciduria may have a higher than normal requirement for L-carnitine. In a patient with type I glutaric aciduria, serum total L-carnitine levels were 8.5 microM (normal, 54.4 +/- 14.2 [2 SD] microM). After treatment with L-carnitine for 1 month, serum levels of both free and total L-carnitine were normal with an acyl-to-total ratio of 0.18. The fractional clearance rates of free and acylcarnitine were increased fourfold by treatment. Acetylcarnitine accounted for a lower than normal percentage of acylcarnitine recovered in serum and urine. Data suggest that this patient may have been carnitine-deficient.

Carnitine↗
PubMed1985

Heredity in one hundred patients admitted for excision of pterygia.

One hundred consecutive patients admitted to hospital for excision of pterygia were compared with 100 control patients without pterygia. Of the pterygia group 38% had one or more relatives with pterygia, compared with 8% (? 12%) of the control group. Exposure to solar radiation was considered to be similar in both groups.

Adolescent↗
PubMed1984

Threonine dehydratase deficiency: a probable cause of non-ketotic hyperglycinaemia.

A patient with classical symptoms of non-ketotic hyperglycinaemia (NKH) is presented. Threonine dehydratase was undetectable in a liver autopsy specimen, which was obtained within 1 h of death and immediately frozen at -70 degrees C. Activities of four marker enzymes were normal. This represents the first documentation of an inborn error of threonine metabolism and a new explanation of NKH.

Glutamate Dehydrogenase↗