Search PubMed⌕ Search

Biomedical subjects

M W Partington

Publications and source records attributed to M W Partington.

At least 55 records · Page 3Linked to original sources
PubMed1981

Multiple endocrine neoplasia, type II: a combined surgical and genetic approach to treatment.

A family with multiple endocrine neoplasia, type II living in southeastern Ontario is described. Twenty individuals are known to have had medullary carcinoma of the thyroid, pheochromocytoma or both, the diagnosis of multiple endocrine neoplasia. type II is strongly suspected in five other individuals in the earlier generations. In this family the diseases seems to be transmitted by an autosomal dominant gene. A screening program set up for the family in 1977 has in 2 years identified four asymptomatic individuals (three with medullary carcinoma of the thyroid and one with this carcinoma and a pheochromocytoma). The family background, clinical picture, treatment and some of the problems of the screening program are described.

Adolescent↗
PubMed1981

Familial cutaneous amyloidosis with systemic manifestations in males.

We describe a family in which two males and seven females have brown pigmentation of the skin. In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was reticulate. The histological appearance was the same in both sexes with amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis. The females were otherwise normal. Both males had thrived poorly as infants but had survived. One had severe gastroenteritis with blood in the stools starting at the age of three weeks followed by seizures, hemiplegia, and developmental delay; the other had recurrent pneumonia throughout life, a urethral stricture, inguinal herniae, and near-blindness from amyloid deposition in the cornea. Five other males in the family had had severe illnesses. Two died of pneumonia by three months. One died at three months from colitis. Both remaining boys had colitis as infants, failed to thrive, and developed recurrent pneumonia from which one died at three years. We think all of these relatives had the same disease carried by a single gene with pleiotropic effects. The most likely form of inheritance is X-linked.

Adolescent↗
PubMed1978

Long term studies of untreated phenylketonuria I: intelligence or mental ability.

A group of 90 patients over the age of 2 years with untreated phenylketonuria was studied by 3 independent observers in 3 different ways for evidence of mental deterioration. In a small subset (N = 10), psychometric tests showed a fall in Intelligence or Developmental Quotients between the ages of 4 and 18 years; the same was found in a matched group of nonphenylketonuric patients from the same institution. In a second subset (N = 83), a Habit Score derived from the observations of the patients' caretakers showed a small overall improvement in adaptive behaviour over an average span of 19 years. In a third subset (N = 81), clinical assessment by one observer detected no significant change in mental ability over an average span of 11 years. No evidence of progressive mental deterioration was found in untreated phenylketonuria from middle childhood to middle age.

Activities of Daily Living↗
PubMed1978

Long term studies of untreated phenylketonuria II: the plasma phenylalanine level.

The plasma phenylalanine level was measured on at least two occasions, usually more, in 81 patients with phenylketonuria on unrestricted diets. The distribution of the individual levels was gaussian and the mean (31 mg/100 ml) did not change significantly over an average span of 12.7 years. Persistent individual differences were found but so were unexpected and inexplicable high or low plasma phenylalanine levels in particular patients. Variations in dietary phenylalanine intake did not explain the differences in plasma phenylalanine levels between individuals. There was no clear relationship between the degree of mental disability and the average plasma phenylalanine except that those with the least brain damage had slightly lower average levels (24.2 mg/100 ml). The difficulties of demonstrating genetic heterogeneity in phenylketonuria are illustrated even though this is likely present. It is argued that the assumption of a direct quantitative relationship between the degree of brain damage and the height of the plasma phenylalanine level is an oversimplification.

Adolescent↗
PubMed1977

Typhoid outbreak in Kingston, Ont: experience with high-dose oral ampicillin.

Twenty-four children contracted typhoid fever at a summer camp near Kingston, Ont. Six were treated with chloramphenicol alone and 15 with high doses of ampicillin (300 mg/kg-d) by mouth. Ampicillin in this dosage was well tolerated except in three children in whom severe urticarial rashes developed and two who had significant diarrhea. However, high-dose oral ampicillin therapy had no advantage over that with lower doses or over chloramphenicol as judged by the rate of defervescence after the start of treatment, the rate of clinical relapse and the frequency of excretion of Salmonella typhi during convalescence.

Adolescent↗
PubMed1977

Serotonin metabolism in cystic fibrosis.

The average blood serotonin level of 67 children with cystic fibrosis was found to be about twice that of age-matched normal children. There was no corresponding increase in the urinary excretion of 5-hydroxyindoleacetic acid (5-HIAA). Children with cystic fibrosis were well able to metabolize serotonin taken by mouth. No significant correlations were found between the blood serotonin level and the platelet count, height, weight, skinfold thickness, and pulmonary function test, 5 out of 44 patients had raised serum IgE levels, and their mean blood serotonin was higher than in those with normal IgE levels. No explanation for this emerged. Comparable findings (raised blood serotonin normal platelet count, normal urinary 5-HIAA) have been reported only in severe mental retardation. Further study of this phenomenon is warranted because (a) a raised blood serotonin level is sufficiently characteristic of cystic fibrosis to explore its use in diagnosis, and (b) it may help to explain the pathogenesis of cystic fibrosis and (c) the metabolism and function of serotonin.

Adolescent↗
PubMed1971

Surdo-cardiac syndrome: incidence among children in schools for the deaf.

This is a report on a survey of 1126 deaf children in three schools for the deaf in the Province of Ontario. One case of the surdo-cardiac syndrome previously reported is included. There were four other children who had a history of syncope but no prolongation of the Q-T interval on the ECG. It is possible that these may represent a variant of the syndrome. Five more children had a prolonged Q-T interval but no fainting spells.

Adams-Stokes Syndrome↗
PubMed1971

Glutamine in pku.

Explore the source record for details and available documents.

Autoanalysis↗