Biomedical subjects

Elaine Hughes

Publications and source records attributed to Elaine Hughes.

6 recordsLinked to original sources

PubMed2005

The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits.

Mutations in nAChRs are found in a rare form of nocturnal frontal lobe epilepsy (ADNFLE). Previously, some nAChR mutations have been described that are associated with additional neurological features such as psychiatric disorders or cognitive defects. Here, we report a new CHRNB2 mutation located in transmembrane region 3 (M3), outside the known ADNFLE mutation cluster. The CHRNB2 mutation I312M, which occurred de novo in twins, markedly increases the receptor's sensitivity to acetylcholine. Phenotypically, the mutation is associated not only with typical ADNFLE, but also with distinct deficits in memory. The cognitive problems are most obvious in tasks requiring the organization and storage of verbal information.

Acetylcholine↗

PubMed2003

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.

DCX mutations cause mental retardation in male subjects with lissencephalypachygyria and in female subjects with subcortical band heterotopia (SBH). We observed four families in which carrier women had normal brain magnetic resonance imaging (MRI) and mild mental retardation, with or without epilepsy. Affected male subjects had SBH or pachygyria-SBH. In two families, the phenotype was mild in both genders. In the first family, we found a tyr138his mutation that is predicted to result in abnormal folding in the small hinge region. In the second family, we found an arg178cys mutation at the initial portion of R2, in the putative beta-sheet structure. Carrier female subjects with normal MRI showed no somatic mosaicism or altered X-inactivation in lymphocytes, suggesting a correlation between mild mutations and phenotypes. In the two other families, with severely affected boys, we found arg76ser and arg56gly mutations within the R1 region that are predicted to affect DCX folding, severely modifying its activity. Both carrier mothers showed skewed X-inactivation, possibly explaining their mild phenotypes. Missense DCX mutations may manifest as non-syndromic mental retardation with cryptogenic epilepsy in female subjects and SBH in boys. Mutation analysis in mothers of affected children is mandatory, even when brain MRI is normal.

Adolescent↗

PubMedDate not supplied

Understanding the care of patients with acute pancreatitis.

Although acute pancreatitis can be potentially life-threatening, patients with this condition can be monitored in the ward area. For this reason, it is essential that nurses have a good understanding of the physiology surrounding the illness and the significance of close and careful monitoring of patients with this condition.

Acute Disease↗

PubMedDate not supplied

Principles of post-operative patient care.

Surgery causes physiological stress on the body and carries inherent risks such as shock and haemorrhage. This article discusses cardiogenic and hypovolaemic shock and outlines the principles of safe and effective post-operative care, including recognising hypovolaemia, maintaining fluid balance and administering pain control.

Analgesia↗

PubMedDate not supplied

Nurses' perceptions of continuing professional development.

AIM: To investigate NHS and private sector nurses' perceptions of the value of continuing professional development (CPD), and to analyse the factors that influence these perceptions and any potential barriers to successful CPD. METHOD: Questionnaires were sent to 200 staff working in two NHS trusts and 13 nursing homes. Following analysis of the questionnaires, interviews took place with eight self-selecting respondents to explore certain issues further. Each interview was taped and lasted 30-45 minutes. The venue for the interview was arranged to suit the respondent, either in a private office in the work environment or at home. Written consent was sought before taping the interview. RESULTS: From the results of the postal questionnaires a largely positive perception of CPD was determined. However, it was shown that there were some barriers to professional development that have not previously been reported in the literature. Managers' leadership styles were found to influence nurses' perceptions of the value of CPD, as well as their ability to reflect, which affected the application of learning to practice. CONCLUSION: Influencing factors included managers' leadership styles and their responsiveness to change, as well as a reduced ability for nurses to reflect. A disassociation between post-registration education and practice (PREP) and CPD in terms of understanding the purpose of PREP was also discovered among nurses.

Attitude of Health Personnel↗

PubMedDate not supplied

Caring for the patient with an intestinal obstruction.

This article aims to increase your understanding of issues associated with intestinal obstruction, including the different causes of small bowel and large bowel obstruction, the treatments available and the best nursing management of patients with this condition.

Body Image↗