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Biomedical subjects

N Dennis

Publications and source records attributed to N Dennis.

11 recordsLinked to original sources
PubMed1995

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.

In a fragile X family referred for prenatal diagnosis, the female fetus did not inherit the full fragile X mutation from her mother, but an unexpected expansion within the normal range of CGG repeats from 29 to 39 was observed in the paternal X chromosome. Also, a rare recombination between DXS548 and FRAXAC1 was recorded in the maternal meiosis. Follow up of the neonate confirmed the same DNA genotype as in the CVS, but the child died of DiGeorge syndrome after four days and was subsequently found to carry a microdeletion of chromosome 22 using probe cEO. It is suggested that in this family the deletion of chromosome 22 is likely to be a chance event but the rare recombinant and the fragile X mutation might be causally related.

Adult↗
PubMed1994

The impact of genetic counselling on females in fragile X families.

We report a retrospective study over the period 1981-1992 of the reproductive histories of 27 women, from 21 families, who were known or possible fragile X carriers. Eighteen women had cytogenetic and DNA linkage studies to establish their carrier risk. They subsequently received definitive carrier status information following the cloning of the gene in 1991. The remaining nine women had cytogenetic and mutation studies only. For 11 of the women their carrier risk was modified over the 11 year period. The results suggest that these women at risk of having a son with fragile X have carefully considered their reproductive choices. Three of the six women who were initially sterilised have had, or are awaiting, a reversal of sterilisation following clarification of their carrier status. There were 10 pregnancies to 10 women. Seven of the pregnancies were to women at "high" (40-100%) risk of being a carrier, and in this group only one woman chose to continue the pregnancy without prenatal diagnosis. Three pregnancies were to women at "medium" or "low" (< 39%) risk of being a carrier. None of the three chose prenatal diagnosis and one affected male was born to this group.

Female↗
PubMed1990

Relationship between academic placement and perception of abuse of the voice.

Informal polling of public school speech-language pathologists indicated that special education teachers referred more children for disorders of voice than did regular classroom educators. This study evaluated the effect of academic placement (regular or special education settings) upon children's and their teachers' ratings of abuse of the voice. Analysis showed the two groups of teachers' criteria for judging abusive vocal behaviors differed while the children's ratings from each setting did not differ. The special educators appeared to perceive their students' vocal behavior as more abusive possibly due to environmental constraints, training or the social affective interactions of their students.

Affective Symptoms↗
PubMed1988

General practitioners' plans for developments in the inner city: a review by a primary care project.

This paper describes part of the work of a development project, working in Tower Hamlets in east London in 1983-87, with the wider remit for facilitating primary care development in the inner city. Thirty-nine of the 43 practices in the district were visited and general practitioners discussed their plans for development and the problems they encountered. The paper presents the results of the discussions and the follow-up work, which explored how further developments could be brought about. It concludes that many general practitioners are considering and introducing a wide range of new developments in their inner city practices. Planning for development of primary care in the inner city should focus more closely at local levels on what practices are already planning and provide more encouragement and practical help than at present.

Adult↗
PubMedDate not supplied

Consumer audit in the NHS.

Recent Department of Health publications and initiatives have emphasised the need to make services more responsive to the needs of patients. This article describes the consumer audit process, developed by the College of Health, involving a range of sensitive yet rigorous qualitative research processes to provide feedback from patients and their carers, in a form which is of practical and educational use to clinicians and managers and results in change and development.

Aged↗