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Biomedical subjects

M W PARTINGTON

Publications and source records attributed to M W PARTINGTON.

At least 19 recordsLinked to original sources
PubMed1964

CASE FINDING IN PHENYLKETONURIA. II. THE GUTHRIE TEST.

Experience with over 6000 Guthrie tests is presented. This test is a screening procedure for phenylketonuria using small amounts of blood spotted on a filter paper which are tested by a bacterial "inhibition assay". Certain technical aspects of the test (e.g. relation between the concentration of phenylalanine in the blood and extent of the bacterial growth zones produced, type of filter paper, size of the blood spot on the paper) were investigated. It was shown that the Guthrie test clearly distinguishes between subjects with normal plasma phenylalanine levels and patients with untreated phenylketonuria.Applications of the Guthrie test in screening a mental hospital population, admissions to a penitentiary and newborn babies are described.

Bacteriological Techniques↗
PubMed1964

CASE-FINDING IN PHENYLKETONURIA. I. REPORT OF A SURVEY BY THE COLLEGE OF GENERAL PRACTICE OF CANADA.

In the years 1961 and 1962 the College of General Practice of Canada undertook a survey to detect infants with phenylketonuria. Routine urine tests for phenylketonuria were performed on all babies in a number of practices and records were kept. On a total of 4334 babies 6247 tests were carried out. Physicians' comments and the ages at which first, second and third urine tests were performed are reported. In an 18-month period, three confirmed and two probable cases of phenylketonuria were discovered.Although it is not necessarily the most efficient method of case-finding, it is recommended that testing the urine for phenylketonuria should be a part of routine baby care.

Canada↗
PubMed1964

WAARDENBURG'S SYNDROME AND HETEROCHROMIA IRIDUM IN A DEAF SCHOOL POPULATION.

Waardenburg's syndrome consists of lateral displacement of the inner canthi of the eyes (dystopia canthorum), a broad nasal root and confluent eyebrows, heterochromia iridum, a white forelock and congenital deafness. The syndrome is inherited as a dominant, but affected individuals do not necessarily have all of the characteristics cited.Five hundred and fourteen pupils at a school for the deaf were screened for features of this syndrome. Three cases were discovered. Eleven other deaf children were found to have heterochromia iridum and two more had white forelocks. The interocular dimensions of the remaining children were recorded as standards by which to judge the presence of dystopia canthorum. The results of chromosomal analysis in two cases with Waardenburg's syndrome were normal.The findings provide further evidence that Waardenburg's syndrome is a distinct entity and call in question Mackenzie's concept of a comprehensive "first arch syndrome".

Adolescent↗