1,721,005 research outputs found
An Interpretative Phenomenological Analysis (IPA) of how individuals who may have concerns about a family history of breast cancer make sense of genetic information
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Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaniaemia
No full textAn adult male with intellectual disabilities demonstrated deterioration in many skills over a number of years and an increase in his temper outbursts was also reported. At 18 years of age, he had been diagnosed as having dihydropteridine reductase (DHPR) deficiency, but treatment had proved unsuccessful in the short term and was discontinued. Dihydropteridine reductase deficiency is a recessively inherited disorder of the amino acid metabolism resulting in a deficiency of tetrahydrobiopterin, an essential cofactor for phenylalanine, tyrosine and tryptophan metabolism. This causes a severe deficiency of neurotransmitters in the brain. Following further neurological examinations, treatment for the subject was recommenced at the age of 30 years. Few reports of late-diagnosis DHPR have been documented. This paper outlines one case report of DHPR, highlighting the importance of diagnosis, medical treatment and nursing care
Genetics knowledge within an ethical framework
No full textThe purpose of this chapter is to enhance your understanding of 'genetics' and to consider the development of genetic knowledge within an ethical framework in relation to the health-care agenda
Client attachment in learning disabilities nurse education
No full textThe training programme for nurses specialising in caring for people with learning disabilities is seen to have several drawbacks, particularly the traditional system of client attachment, which allows the student too little time with the client. Southampton University School of Nursing and Midwifery has devised a new client attachment system that aims to allow the student long-term contact with clients, to introduce the subject of caseload management and to give the student transferable skills. A description of the programme is presented
The utilisation of the SEQ (Student Experience Questionnaire) data within a SEF (Student Entitlement Framework)
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