Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome

Approximately 25 % of mismatch repair (MMR) variants are exonic nucleotide substitutions. Some result in the substitution of one amino acid for another in the protein sequence, so-called missense variants, while others are silent. The interpretation of the effect of missense and silent variants as deleterious or neutral is challenging. Pre-symptomatic testing for clinical use is not recommended for relatives of individuals with variants classified as ‘of uncertain significance’. These relatives, including non-carriers, are considered at high-risk as long as the contribution of the variant to disease causation cannot be determined. This results in continuing anxiety, and the application of potentially unnecessary screening and prophylactic interventions. We encountered a large Irish Lynch syndrome kindred that carries the c.544A>G (p.Arg182Gly) alteration in the MLH1 gene and we undertook to study the variant. The clinical significance of the variant remains unresolved in the literature. Data are presented on cancer incidence within five kindreds with the same germline missense variant in the MLH1 MMR gene. Extensive testing of relevant family members in one kindred, a review of the literature, review of online MMR mutation databases and use of in silico phenotype prediction tools were undertaken to study the significance of this variant. Clinical, histological, immunohistochemical and molecular evidence from these families and other independent clinical and scientific evidence indicates that the MLH1 p.Arg182Gly (c.544A>G) change causes Lynch syndrome and supports reclassification of the variant as pathogenic.     

Diagnostic radiography: A study in distancing

AimsThis article aims to explore the ways in which diagnostic radiographers use distancing as a tool for emotional management in radiography practice.MethodsThis review utilises data from oral history interviews undertaken as part of a larger study documenting the oral history of the diagnostic radiography profession in the United Kingdom as recounted by 24 participants.ResultsThe results are presented as illustrative of various aspects of the role of the diagnostic radiographer including the initial choice of diagnostic radiography as a profession, the endemic use of particular terminology, the nature of the encounter in diagnostic radiography (including that of sectional imaging) and whether the role is really patient-centred.ConclusionsThe article concludes by suggesting that distancing from the patient is mediated by the need for physical touch in order to position the patient for radiography and also makes the suggestion that those opting for diagnostic radiography as a career may do so because they want a profession which is more distanced from the patient and that, even where this is not the case initially, individuals are socialised into adopting the ‘feeling rules’ of the profession. The article concludes by outlining potential areas for further research.     

Pre-Operative Modification of Dietary Glycemic Index Improves Pre but Not Post-Operative Indices of Insulin Resistance in Patients Undergoing Coronary Artery Bypass Graft Surgery

Background: Improving insulin sensitivity in coronary artery bypass grafting (CABG) patients may translate into improved glycemic control and postoperative outcomes. The implementation of a low glycemic index (LGI) diet in the pre-operative period may improve insulin sensitivity and subsequently impact on the development of post-operative insulin resistance. The aim of this study was to determine whether a short term LGI diet would reduce postoperative insulin resistance.

Methods: Eleven non-diabetic patients referred for elective CABG surgery were randomized to consume either a high glycemic index (HGI)(5) or LGI (6) diet for three weeks prior to their surgery. Outcomes, including insulin sensitivity (SITT, HOMA), were measured at baseline, preoperatively and postoperatively.

Results: Substitution of HGI or LGI foods resulted in an average 8.6 unit increase, or 11.0 unit decrease, respectively, in glycemic index. Insulin sensitivity (HOMA) improved significantly in the LGI group preoperatively compared to the HGI group (p = 0.018). Insulin sensitivity (SITT) was significantly reduced postoperatively in both groups, but no significant difference was found between groups. There was a trend in the LGI group towards improved glycemic control which warrants further investigation.

Conclusion: A preoperative LGI diet presents a non-invasive cardio-protective opportunity warranting clinical trial.     

Black hypertension: A transcultural case study using the Betty Neuman model of nursing care

A case study approach was used to study a 36‐year‐old Southern black female for several weeks following a hypertensive crisis episode. The purpose of the study was to establish trust and understanding between the culturally different black client and white nurse. The Betty Neuman model of nursing care was used in developing an ethnocare plan for the subject. Cultural Stressors identified were: (1) obesity and dietary habits, evidence of the “soul food”; diet and salt, saturated fats, and cholesterol; (2) smoking, used as a coping mechanism when under self‐perceived stress; (3) noncom‐pliance in taking hypertensive drugs, which reflects cultural beliefs and feelings; (4) lack of understanding about the disease process, an example of cultural difference in language and beliefs; (5) inability to be a biological mother (the ability to produce children is perceived by the black culture as necessary to the fulfillment of the woman's role); and (6) living in a hostile environment. The ethnocare plan addressed each of these Stressors and was designed to fit this client's individual perception of nursing care and its value to her.     

Transmission of Brucellosis from Elk to Cattle and Bison,Greater Yellowstone Area,USA, 2002–2012

Bovine brucellosis has been nearly eliminated from livestock in the United States. Bison and elk in the Greater Yellowstone Area remain reservoirs for the disease. During 1990–2002, no known cases occurred in Greater Yellowstone Area livestock. Since then, 17 transmission events from wildlife to livestock have been investigated.     

Medical career choice: Current status of research literature

This article examines the research evidence supporting relationships between both personal and social factors and the career choices of physicians in training. Although the research literature in this area is limited by a lack of longitudinal studies, a dependence on cross‐sectional designs, and a lack of multivariate investigations, data support relationships in each of the following areas: sociodemographic characteristics of student, student personality and attitudinal variables, institutional characteristics of the medical school, characteristics of the specialty training programs, and information available to students about the various careers. Additionally, this review investigates the stability of career preferences and career choices over time.