Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

We report on a familial three way translocation involving chromosomes 3, 6, and 15 identified by prometaphase banding and fluorescence in situ hybridisation (FISH). Two mentally retarded sibs with different phenotypic abnormalities, their phenotypically normal sister and mother, and two fetuses of the phenotypically normal sister were analysed. The terminal regions of chromosomes 3q, 6q, and 15q were involved in a reciprocal translocation, in addition to a paracentric inversion of the derivative chromosome 15. Conventional cytogenetic studies with high resolution GTG banding did not resolve this rearrangement. FISH using whole chromosome paints (WCPs) identified the chromosomal regions involved, except the aberrant region of 3q, which was undetectable with these probes. Investigation of this region with the subtelomeric FISH probe D3S1445/D3S1446 showed a balanced karyotype, 46,XX,t(3;15;6) (q29;q26.1;q26), inv der(15) (q15.1q26.1) in two adult females and one fetus. It was unbalanced in two sibs, showing two different types of unbalanced translocation resulting in partial trisomy 3q in combination with partial monosomy 6q in one patient and partial trisomy 15q with partial monosomy 6q in the other patient and one fetus. These represent apparently new chromosomal phenotypes.     

The management of ultrasound equipment at Sheffield Teaching Hospitals NHS Foundation Trust

Management of ultrasound equipment at Sheffield Teaching Hospitals NHS Foundation Trust is described. The organisation and input of various stakeholders and their involvement with ultrasound equipment management and scientific ultrasound is discussed. Two important stakeholders are the Medical Equipment Management Group and the Radiation Safety Steering Committee. The Medical Equipment Management Group has a specific sub-group, the Ultrasound sub-group, and its role is to coordinate the purchase, replacement and quality assurance of ultrasound equipment in the Trust. The Radiation Safety Steering Committee has a non-ionising radiation representative and the role of this committee is to provide corporate assurance that any health and safety issues arising from the use of radiation to either patients, members of the public or staff within the Trust are being effectively managed. The Ultrasound sub-group of the Medical Equipment Management Group has successfully brought together management of all ultrasound equipment within the Trust and is in the process of fulfilling the quality assurance and training milestones set out by the Medical Equipment Management Group. Advice from the Radiation Safety Steering Committee has helped to increase awareness of ultrasound safety and good scanning practice, especially in the case of neonatal ultrasound imaging, within the Trust. In addition, the RSSC has given advice on clinical pathways for patients undergoing ionising radiation imaging while being treated by extra-corporeal shockwave lithotripsy.     

Relevance of basic laboratory and clinical research activities as part of the vascular surgery fellowship: an assessment by program directors and postfellowship surgeons

INTRODUCTION: Decreased federal monies for graduate medical education, increased clinical training demands, and a decreased pool of general surgery trainees applying to vascular surgery fellowships have brought into question the relevance of the fellowship research experience. This study sought to describe the recent laboratory experience of the fellows, the value of this experience to program directors (PDs) and the trainees, and what factors related to this experience contributed to the trainee entering an academic career versus a private practice career. METHODS: A survey regarding the relevance of research experience during fellowship training was mailed in 2001 to all Accreditation Council for Graduate Medical Education-approved vascular surgery fellowship PDs and vascular surgery fellows (VSFs) from 1988 to 2000 applying for the American Board of Surgery Certificate of Added Qualification in General Vascular Surgery. RESULTS: Survey responses were received from 89% of the PDs (74/83) and 69% of the VSFs (259/378). Among the PDs, 70% had completed an approved fellowship, and current bench research was performed by 46%. The PDs afforded protected research time to 69% of the VSFs (with a mean duration of 12 months). This research was in the basic science laboratory 34% of the time. Only 42% of the PDs considered basic laboratory research to be an important part of the fellowship, whereas 99% believed that clinical research was important. Among the PDs, 42% believed that more practice-oriented fellowships with no basic research were needed, whereas 35% believed that basic research should remain an integral component of the fellowship. VSF basic science productivity was significantly greater from those programs that offered protected research time as compared with those that did not (mean basic science paper published, 1.7 +/- 0.1 versus 0.3 +/- 0.6 per VSF; P <.001). At the time of the survey, 99 VSFs had entered academic careers and 136 were in private practice. Basic science research had been undertaken by 56% of the VSFs during medical school and by 53% during general surgery residency. Research during the fellowship was performed by 65% of the VSFs. This experience was considered helpful in choosing an academic or private practice career by 44% of the VSFs. A greater proportion of academic surgeons had research experience as VSFs when compared with VSFs who became private practitioners (71% versus 57%; P <.05). VSFs who entered academic careers had a more productive publication record in fellowship than did those who chose private practice (mean paper, 2.4 versus 1.5; P <.05). Overall, 78% of the VSFs believed that their research experience was maturing beyond the technical skills learned. CONCLUSION: This report provides a benchmark of the vascular surgery fellowship research experience. Most VSFs considered the research experience as it now exists to be worthwhile, and less than half of the PDs believed that it should remain as it is. Research experience in fellowship seemed more influential than that in medical school or general surgical residency in promoting an academic career.     

Nonconscious formation and reactivation of semantic associations by way of the medial temporal lobe

A successful strategy to memorize unrelated items is to associate them semantically. This learning method is typical for declarative memory and depends on the medial temporal lobe (MTL). Yet, only a small fraction of perceived items emerge into conscious awareness and receive the status of representations in declarative memory. This functional magnetic resonance imaging (fMRI) study tackled the mnemonic fate of unrelated item pairs processed without conscious awareness. Stimuli consisted of a face and a written profession (experimental condition) or of a face (control condition) exposed very briefly between pattern masks. Although the participants were unaware of the stimuli, activity in the hippocampus and perirhinal cortex was changed in the experimental versus the control condition; perirhinal activity changes correlated with the reaction time measure of the later nonconscious retrieval. For retrieval, the previously presented faces were shown again, this time for conscious inspection. The task was to guess the professional category of each face. This task was to induce a nonconscious retrieval of previously formed face-profession associations. Remarkably, activity in the hippocampus and perirhinal cortex was enhanced when subjects were confronted with faces from the experimental versus the control condition. The degree of hippocampal and perirhinal activation changes correlated with the reaction time measure of nonconscious retrieval. Together, our findings suggest that new semantic associations can be formed and retrieved by way of the medial temporal lobe without awareness of the associations or its components at encoding or any awareness that one is remembering at retrieval.     

Protective effect of amifostine on dental health after radiotherapy of the head and neck

Purpose: The cytoprotective agent amifostine has been shown to reduce the radiation-induced acute and chronic xerostomia in head and neck cancer patients. The purpose of this study was to evaluate whether or not amifostine also reduces the incidence of dental caries associated with the radiation-induced xerostomia.

Methods and Materials: The dental status before and 1 year after radiotherapy was retrospectively compared in 35 unselected patients treated as part of the prospective randomized and multicenter open-label Phase III study (WR-38) at the University Hospitals of Heidelberg, Freiburg, and Erlangen. The WR-38 study compared radiotherapy in head and neck cancer with and without concomitant administration of amifostine.

Results: Patient and treatment characteristics (particularly the radiation dose and percentage of parotids included in the treatment volume) were equally distributed between the patients who received (n = 17) or did not receive (n = 18) amifostine. Fifteen patients of the amifostine group showed no deterioration of the dental status 1 year after radiotherapy as compared to 7 patients who did not receive the cytoprotector (p = 0.015, two-tailed Fisher exact test).

Conclusion: Our data suggest a protective effect of amifostine on the dental health after radiotherapy of the head and neck. The dental status should be used as a primary endpoint in future studies on amifostine.     

Blood hemoglobin level may affect radiosensitivity-preliminary results on acutely reacting normal tissues

PURPOSE: To evaluate the influence of blood hemoglobin concentration on the radiosensitivity of acutely reacting normal tissues. METHODS AND MATERIALS: Weekly scores (EORTC/RTOG criteria) for acute reactions of skin and mucosa are available for 60 patients with cancer of the head and neck undergoing a standard conventional radiotherapy. The prognostic significance of blood hemoglobin levels on the development of acute reactions is studied by multivariate analysis (Cox Proportional Hazards Model). Further, the incidence and the time to development of these reactions is looked at in cohorts of patients with different mean blood hemoglobin concentrations during radiotherapy. Patients are therefore classified into a "severely anemic group" (hemoglobin < 11.0 g/100 mL), and into a cohort with a blood hemoglobin value equal or above 11.0 g/100 mL. RESULTS: Normal tissue scoring and monitoring of blood hemoglobin levels allows for a detailed analysis of possible correlations. A decrease in the mean blood hemoglobin value of 1 g/100 mL predicts a reduced risk to develop a skin reaction of Grade 2 or 3 (RR = 0.9; p = 0.08; RR = 0.8; p = 0.26, respectively) or a mucosa reaction of Grade 3 (RR = 0.8; p = 0.16), independent from the radiation dose, the treatment time and from previous surgery within the radiation volume (multivariate analysis). Likewise, patients with severe anemia develop grade 3 mucositis or dermatitis less often (0%; 13%) as compared to those with blood hemoglobin concentrations equal or above 11.0 g/100 mL (21%; 19%). Skin and mucosa reactions further tend to occur later in the course of radiation. The observations are not statistically significant and possible reasons will be discussed. CONCLUSIONS: A decreased blood hemoglobin concentration may-perhaps by an impaired tissue oxygenation-reduce the radiosensitivity of normal tissue such as skin and mucosa. However, the data is preliminary and needs further confirmation.     

Innovative solutions: development and implementation of a tight blood glucose management protocol: one community hospital's experience.

Blood glucose monitoring and control are an important component of nursing care for the critically ill patient. This article discusses the efforts of one community hospital in the development of a tight blood glucose management protocol for cardiopulmonary bypass patients.