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Biomedical subjects

D Mowat

Publications and source records attributed to D Mowat.

12 recordsLinked to original sources
PubMed2001

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

Hirschsprung disease (HD) has been described in association with microcephaly, mental retardation and characteristic facial features, delineating a syndrome possibly caused by mutations localized at chromosome 2q22--q23. We have analyzed a de novo translocation breakpoint at 2q22 in one patient presenting with this syndrome, and identified a gene, SIP1, which is disrupted by this chromosomal rearrangement. SIP1 encodes Smad interacting protein 1, a new member of the delta EF1/Zfh-1 family of two-handed zinc finger/homeodomain transcription factors. We determined the genomic structure and expression of the human SIP1 gene. Further analysis of four independent patients showed that SIP1 is altered by heterozygous frameshift mutations causing early truncation of the protein. SIP1, among other functions, seems to play crucial roles in normal embryonic development of neural structures and neural crest. Its deficiency, in altering function of the TGF beta/BMP/Smad-mediated signalling cascade, is consistent with some of the dysmorphic features observed in this syndrome, in particular the enteric nervous system defect that underlies HD.

Abnormalities, Multiple↗
PubMed2001

The value of marginality in a medical school: general practice and curriculum change.

OBJECTIVE: To report the process of introduction, development and sustenance of a curriculum for a department of general practice in the context of changing curricula required by the General Medical Council. SETTING AND CONTEXT: Tayside Centre for General Practice, the Department of General Practice within Dundee University Medical School. METHODS: Use of action research methodology common in educational and sociological research. Action research utilizes a range of data collection techniques which allow the participants in the research full opportunities to reflect on the data as it emerges and make developments accordingly. ANALYSIS: This took place as part of the process of the 5-year project. The analysis used as its starting point the sociological theory of the social construction of power within institutions. It offers the thesis that marginality seems to be a prerequisite in confronting institutional conservatism. CONCLUSIONS: Use of an action research model facilitated more effective change by providing a supportive atmosphere in which to tackle changes. The marginal status of the general practice group in relation to the medical school allowed creative negotiation of alliances within the medical school. Other groups within the medical school who are introducing new curricula can learn from this report.

Curriculum↗
PubMed2000

Genes on the X chromosome are important in undiagnosed mental retardation.

The clinical genetic diagnosis was reviewed in 429 subjects with intellectual disability in the Australian Child and Adolescent Development (ACAD) study of behavioural problems. With minor differences, the overall "general distribution by causation" was similar to that to that found by the Consensus Conference of the American College of Medical Genetics in 1995. There was a significant male excess in the whole series which was shown to reside in those with "autism," those with undiagnosed nonsyndromic mental retardation (NSMR) and those with X-linked monogenic disorders. It is argued that a substantial proportion of undiagnosed NSMR is caused by genes on the X chromosome. Some of the practical problems of assigning individuals to diagnostic groups are discussed.

Adolescent↗
PubMed1999

Duplication within chromosome 5q characterized by fluorescence in situ hybridization.

We present a 16-month-old boy with developmental delay, minor anomalies, small penis, and lymphedema of the upper limbs. Routine cytogenetic analysis suspected a duplication of 5q. Fluorescent in situ hybridization (FISH) with a cosmid probe (MCC at the 5q22 APC region) showed tandemly duplicated fluorescent signals on one of chromosomes 5, whereas FISH with three YAC probes (TYAC12 at 5q35, HTY3182 at 5q34, and TYAC139 at 5q31) did not give duplicated signals. These findings indicate a duplication of 5q22 band in one chromosome 5. The boy we describe here is the first case of a pure partial duplication of 5q to be proven by FISH techniques. A review of previously reported cases of putative partial 5q duplication showed no consistent phenotype.

Abnormalities, Multiple↗
PubMed1999

Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.

We report a child with an isolated complex III respiratory chain deficiency and global developmental delay who had severe pruritus with elevated plasma bile acid levels. A liver biopsy showed micronodular cirrhosis, and enzymologic evaluation demonstrated an isolated complex III deficiency in both liver and muscle. His pruritus improved and serum bile acid levels decreased after treatment with menadione and vitamin C.

Anemia, Iron-Deficiency↗
PubMed1996

Delisting of drugs in Ontario. How attitudes and prescribing strategies of family physicians in the Kingston area changed.

OBJECTIVE: To assess how attitudes and prescribing strategies of family physicians changed when drugs were delisted from the Ontario Drug Benefit formulary. DESIGN: Mailed, self-administered survey. SETTING: Family physicians' offices in Ontario. PARTICIPANTS: All family physicians practising in the Kingston, Frontenac, Lennox, and Addington Health District. MAIN OUTCOME MEASURES: Physicians were presented with six vignettes involving patients receiving a delisted drug. The choices were to recommend the patient pay for the medication, to substitute a drug still listed on the formulary, to make a special request that the medication be covered for this patient, or to offer another option. As well, the physicians were asked to indicate, on a 5-point Likert scale, their opinions regarding the effect of delisting on themselves and their patients. RESULTS: Physicians were most likely to change to a medication that was still on the formulary. Patient sex and ability to pay were factors in physicians' decisions. Physicians believe that the delistings are not likely to have adversely affected patients' health, that noncompliance is a problem because many once-daily formulations have been removed, that suitable alternatives are not always available, and that physicians should have been consulted more before the changes were made. CONCLUSIONS: Physicians usually substitute listed medications for medications that have been delisted. This is especially true for female patients and patients who are unable to pay.

Adult↗