Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.

Occludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O'Driscoll et al reported mutations in OCLN to cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG). BLC-PMG is a rare autosomal recessive syndrome, characterized by early onset seizures, progressive microcephaly, severe developmental delay and deep cortical gray matter and basal ganglia calcification with symmetrical, predominantly fronto-parietal, polymicrogyria. Here we report 4 additional cases of BLC-PMG with novel OCLN mutations, and provide a summary of the published mutational spectrum. More generally, we describe a comprehensive molecular screening strategy taking into account the technical challenges associated with the genetic architecture of OCLN, which include the presence of a pseudo-gene and copy number variants.

Can medical students contribute to quality assurance programmes in day surgery?

CONTEXT AND OBJECTIVES: Health care delivery has undertaken a major shift from inpatient management to ambulatory surgical care with increasing emphasis on quality assurance (QA) processes. Educational opportunities for medical undergraduate programmes are being sought in the day surgery environment. Our study was undertaken to explore ways in which senior medical students can actively contribute to QA processes as part of an undergraduate day surgery educational programme. SUBJECTS AND METHODS: Health care delivery has undertaken a major shift from inpatient management to ambulatory surgical care with increasing emphasis on quality assurance (QA) processes. Educational opportunities for medical undergraduate programmes are being sought in the day surgery environment. Our study was undertaken to explore ways in which senior medical students can actively contribute to the QA processes as part of an undergraduate day surgery educational programme. SUBJECTS AND METHODS: Fifty-nine final year medical students followed allocated patients with common surgical conditions through all phases of the day surgery process. Students kept records about each case in a log book and also presented their cases at weekly Problem Based Learning tutorials. An audit of student log books and review of tutorial records was conducted for the 1996 and 1997 academic years, in order to evaluate student contribution to QA. RESULTS: Students followed 621 cases, representing a sampling of 14. 1% day surgery cases. Categories of problems highlighted by students included inappropriate patient and procedure selection, inadequate pain management, discharge, communication and resource issues. Students made a number of recommendations including the development of multilingual videotapes and patient information sheets for non-English speaking patients, avoidance of bilateral surgical procedures and improved links with local medical officers. They also developed new guidelines and protocols. CONCLUSIONS: Our study confirms that students are able to identify QA issues and propose solutions. We recommend that students have a formally recognized place in day surgery QA programmes, to close the QA loop and to adequately prepare them for medical practice in the 21st century.

Radiation-induced micronuclei in human fibroblasts in relation to clonogenic radiosensitivity.

As part of our programme for developing predictive tests for normal tissue response to radiotherapy, we have investigated the efficacy of the cytokinesis-block micronucleus (MN) assay as a means of detecting interindividual differences in cellular radiosensitivity. A study was made of nine fibroblast strains established from vaginal biopsies of pretreatment cervical cancer patients and an ataxia telangiectasia (A-T) cell strain. Cells were irradiated in plateau phase, replated and treated with cytochalasin B 24 h later. MN formation was examined 72 h after irradiation as the number of MN in 100 binucleate cells. The method yielded low spontaneous MN yields (<7 per 100 cells), and mean induced MN frequencies after 3.5 Gy varied between cell strains from 18 to 144 per 100 cells. However, in repeat experiments, considerable intrastrain variability was observed (CV = 32%), with up to twofold differences in MN yields, although this was less than interstrain variability (CV = 62%). An analysis was made of the relationship between MN results and previously obtained clonogenic survival data. There was a significant correlation between MN yields and clonogenic survival. However, when the A-T strain was excluded from the analysis, the correlation lost significance, mainly because of one slow-growing strain which was the most sensitive to cell killing but had almost the lowest MN frequency. With current methodology, the MN assay on human fibroblasts does not appear to have a role in predictive testing of normal tissue radiosensitivity.

Day surgery: teaching the next generation.

The advent of day surgery presents new opportunities and challenges for medical education. The opportunity to see patients pre-operatively and follow them through surgery to discharge on the same day is unique to day surgery. However, with rare exceptions, the development of educational programmes in ambulatory surgical settings is still largely at a rudimentary level. An undergraduate pilot programme was conducted at the University of Adelaide to explore the practicalities, acceptance and educational value of a day surgery programme for final-year medical students. The programme had three components: day surgery patient follow through, practical procedure tutorials and problem-based learning tutorials. It incorporated assessment of practical skills and theoretical knowledge with the use of log books and clinical and practical simulations as important elements in the assessment process. The pilot programme was accepted by all stakeholders and students' perceived significant gains in knowledge and skills. This programme may provide a teaching model that could be adapted for use in other medical schools.

Does a teaching programme in day surgery impact on efficiency and quality of care?

BACKGROUND: Recent medical advances have led to an explosion in the use of day surgery, making traditional teaching untenable and necessitating a transfer of undergraduate teaching programmes into the day surgery setting. concerns have been raised about the impact of teaching on efficiency and quality of care in this environment. METHODS: Thirty-one final year medical students participated in a new teaching programme conducted in a dedicated day surgery unit in a major Australian public teaching hospital, Five commonly performed procedures were audited and analysed by a mixed model analysis of variance to determine whether students impacted significantly on operation time. Student performance was monitored using a logbook. Surgeons and nursing staff completed questionnaires about their perceptions of the impact of the programme on the overall efficiency of the day surgery unit. RESULTS: Students had no significant effect on operation time for the procedures examined. Staff did not perceive that students had significantly detracted from the overall efficiency of the unit. An unexpected finding was the substantial contribution that students made to quality of patient care.

A case of neonatal herpes simplex with pneumonia.

A case of neonatal herpes simplex infection is discussed that presented as pneumonia, with subsequent development of skin lesions. The virus was isolated from skin scrapings. In spite of treatment with vidarabine, skin lesions continued to develop, and central nervous system involvement occurred. Acyclovir therapy led to prompt resolution of symptoms.