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Biomedical subjects

J Poulton

Publications and source records attributed to J Poulton.

At least 91 records · Page 5Linked to original sources

Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution.

Two patients with direct tandem duplications of mitochondrial DNA (mtDNA) and mitochondrial myopathy are described. The breakpoint regions between duplicated segments were amplified using the polymerase chain reaction (PCR), cloned and sequenced. The distribution of normal and abnormal genomes in different tissues was investigated using Southern hybridisation, and in different cells within the same tissue using PCR. In each case the gene for cytochrome oxidase subunit I (MTCOX1) was interrupted, creating reading frames which if transcribed and translated would result in truncated versions of this peptide. Heteroplasmy and mosaicism for the abnormal mtDNA population was apparent.

Amino Acid Sequence↗

Duplications of mitochondrial DNA in mitochondrial myopathy.

Restriction enzyme analysis was done on total cellular DNA extracted from whole blood in two patients with mitochondrial myopathy and multisystem involvement and their families. The two patients had an abnormal mitochondrial genome with a large (about 8 kb) duplication present in several tissues. Normal mitochondrial DNA (mtDNA) was also present, but within each maternal lineage the abnormal mitochondrial genome was confined to clinically affected individuals. This observation, together with the failure of extensive population surveys to identify such abnormalities of mtDNA, suggests that these mutations cause the disease.

Child↗

Restriction enzyme analysis of the mitochondrial genome in mitochondrial myopathy.

The mitochondrial myopathies are a heterogeneous group of disorders some of which may be caused by mutations in the mitochondrial genome. Mitochondrial DNA from 10 patients with mitochondrial myopathy and their mothers was analysed using five restriction enzymes and 11 mitochondrial probes in bacteriophage M13. No abnormalities were found in seven out of the 10 patients. Polymorphisms which have not previously been reported were detected in three patients and two of their mothers. These results exclude the presence of deletions or insertions of greater than 60 bp in the region of the mitochondrial genome examined. Any causative mitochondrial DNA mutations in these disorders are therefore likely to be point mutations or small structural rearrangements.

DNA, Mitochondrial↗

Diagnosis of rotavirus gastroenteritis by smell.

Clinical features cannot differentiate rotavirus gastroenteritis from other types of diarrhoea. Sixty eight stool specimens were examined by nurses on an infant gastroenteritis ward. Of these, 69% were correctly classified by smell alone. The results are significant (p = 0.009) and support the suggestion that rotavirus stools have a characteristic smell.

Feces↗

Dilated cardiomyopathy associated with haemolytic uraemic syndrome.

In two children with the haemolytic uraemic syndrome dilated cardiomyopathy occurred in the absence of hypertension, or fluid or electrolyte disturbance. These cases presented with acute left ventricular failure. Echocardiography showed left ventricular dilatation and reduced contractility. There was also ventricular wall thickening, which persisted. Twelve other children with haemolytic uraemic syndrome had prospective echocardiography. Eleven of them showed no evidence of cardiomyopathy and in one transient dilatation and reduced contractility developed without clinical signs. Dilated cardiomyopathy is a rare but important extrarenal manifestation of the haemolytic uraemic syndrome and is best demonstrated by echocardiography.

Cardiomyopathy, Dilated↗

Medical teaching of the cultural aspects of ethnic minorities: does it exist?

The development of published material relating to the practice of medicine in multiracial and multicultural Britain is briefly reviewed. The utilization of such information in English medical schools is found to be absent or at a low level of priority. A more detailed study of one region demonstrates that junior hospital doctors believe from experience that they have a need for training in 'multicultural' medicine to serve their current patient load. Objective tests demonstrate the poor levels of knowledge and the role of practical experience. Responses from a survey of administrators and clinical tutors suggest interest or willingness to develop training in this field but a lack of coordination or resources. The paper demonstrates clearly that medical education has failed to keep pace with developments in the social and ethnic composition of the potential client population. Doctors who are practising in multiracial areas support this argument for changes in the undergraduate curriculum and extension of provision in postgraduate education. These improvements should not be confined to specific medical schools because of the career mobility of doctors, and by analogy could be extended to other medical professionals. Recommendations are made as a basis for a long-term strategy to ensure that medical education plays its part in combating racism in society.

Asia↗

Plasma concentrations of clonazepam after single rectal administration.

Clonazepam was administered rectally to six children aged 1.4 to 4.7 years in a dose of 0.05 mg/kg and to five children aged 1.4 to 4.1 years in a dose of 0.1 mg/kg. Plasma concentrations indicate that it is rapidly absorbed, and it may therefore be an alternative to rectal administration of diazepam in continuing convulsions.

Benzodiazepinones↗

Steroid responsive nephrotic syndrome is more common in Asians.

A retrospective study was undertaken to determine the incidence and compare the natural history of steroid responsive nephrotic syndrome in Asian, European, and Afro-Caribbean children born in the United Kingdom and living in Birmingham. Patients were identified from hospital admission records during the years 1979-83. Baseline population data were obtained from the same area using city birth statistics. There were 27 Asian, 13 European, and 2 Afro-Caribbean patients, giving annual incidences of 16, 2.6, and 3.1 per 100 000 children. The sixfold higher incidence in Asian children remains unexplained; further epidemiological studies may throw new light on the aetiology.

Adolescent↗

Corynebacterial infection of cattle in Kenya.

Skin infections in cattle caused by Corynebacterium ovis, either as the main pathogen or in association with other organisms, was investigated on a Kenya ranch. The morbidity rate was approximately 25% involving more than 3,000 cattle and the condition appeared to be highly infectious. Three treatment regimes were instituted and the most effective proved to be lancing and irrigating the large abscesses with iodine solution.

Abscess↗