Assessing models for genetic prediction of complex traits:a comparison of visualization and quantitative methods

BACKGROUND: In silico models have recently been created in order to predict which genetic variants are more likely to contribute to the risk of a complex trait given their functional characteristics. However, there has been no comprehensive review as to which type of predictive accuracy measures and data visualization techniques are most useful for assessing these models. METHODS: We assessed the performance of the models for predicting risk using various methodologies, some of which include: receiver operating characteristic (ROC) curves, histograms of classification probability, and the novel use of the quantile-quantile plot. These measures have variable interpretability depending on factors such as whether the dataset is balanced in terms of numbers of genetic variants classified as risk variants versus those that are not. RESULTS: We conclude that the area under the curve (AUC) is a suitable starting place, and for models with similar AUCs, violin plots are particularly useful for examining the distribution of the risk scores

Spectrum of injuries resulting from gunshot wounds in car hijacking: a South African experience.

BACKGROUND: Car hijacking, known as “carjacking”, is a form of aggravated robbery of a vehicle from the driver frequently involving firearm and is common in South Africa. There is, however, little literature on the spectrum of injuries sustained by victims of car hijacking. The study aimed to describe the spectrum of gunshot wound-related (GSW) injuries and review our experience of management of victims of car hijacking in our trauma center based in South Africa. METHODS: A retrospective review was conducted during an 8-year period from January 2010 to January 2018 on all patients who presented with any form of GSW after a car hijacking incident. RESULTS: During the 8-year study period, a total of 101 patients were identified. Seventy-four percent were male (75 of 101) and the mean age was 34 years. The mean time from injury to arrival at our trauma center was 7 hours (rural district: 10 hours, urban district: 4 hours; p<0.001). Seventy-five percent (76 of 101) of all patients sustained GSWs to multiple body regions, whereas the remaining 25% (25 of 101) were confined to a single body region. The most common region involved was the chest (48 cases), followed by the abdomen (46 cases) and neck (34 cases). Sixty-three of the 101 (62%) patients required one or more operative interventions. The most common procedure was laparotomy (28 cases), followed by vascular (20 cases) and neck (14) exploration. Eighteen percent (18 of 101) of all patients required intensive care unit admission. The mean length of hospital stay was 7 days. The overall morbidity was 13% (16 of 101) and the overall mortality was 18% (18 of 101). DISCUSSION: The spectrum of injuries from GSW related to car hijacking commonly involves close range GSWs to multiple body regions. Torso trauma is common and a substantial proportion of victims require major operative interventions. The mortality from these injuries is significant. LEVELS OF EVIDENCE: Level III

Radiocephalic and brachiocephalic arteriovenous fistula outcomes in the elderly

BackgroundA recent meta-analysis has suggested that patients aged >65 have worse outcomes with radiocephalic arteriovenous fistulas (RCAVFs) compared with brachiocephalic arteriovenous fistulas (BCAVFs). We hypothesized that outcomes in patients aged ≥80—a rapidly expanding cohort within this elderly group—might be skewing the results, and that age >65 may not be a contraindication to RCAVF formation. This study examined the effect of age group (<65, 65 to 79, ≥80) on functional outcomes (use; primary and secondary functional patency) in RCVAFs and BCAVFs.MethodsWe identified the outcomes of all patients undergoing a first surgical access procedure for a RCAVF or BCVAF between January 1, 2000, and December 31, 2005. We examined the effect of age and other factors including sex, diabetes mellitus, hypertension, late referral (<3 months before dialysis), dialysis before surgical access, preoperative duplex ultrasound imaging, and ethnicity on non-AVF use and primary and secondary functional AVF patency. Logistic regression and Cox proportional hazards regression models were used.ResultsFrom a total of 658 patients, 361 had a RCAVF, and 297 had a BCAVF. Their median age was 68.5 years (interquartile range [IQR], 54.4 to 76.5 years), and 288 (43.8%) were aged <65 years, 274 (41.6%) were 65 to 79, and 96 (14.6%) were ≥80. Age did not influence the site of the first surgical access (P = .874). Only 85.7% of patients actually progressed to hemodialysis, and the RCAVF or BCAVF in 45.7% of those was never used for dialysis. Female sex (hazard ratio [HR], 2.24; 95% confidence interval [CI] 1.387 to 3.643; P = .001) was the only factor associated with an increase risk of RCAVF nonuse, whereas diabetes (HR, 2.095; 95% CI, 1.261 to 3.482; P = .004) was the only factor associated with an increase risk of BCAVF nonuse. The respective primary patency rates at 1 and 2 years for RCAVFs were 46.0% and 27.1% for patients <65, 47.0% and 36.0% for those 65 to 79, and 45.7% and 38.1% for those ≥80. Only female sex (HR, 1.679; 95% CI, 1.261 to 2.236; P = .001) and prior hemodialysis (HR, 1.363; 95% CI, 1.0.29 to 1.804; P = .031) were associated with loss of patency of RCAVFs. The primary functional patency rates for BCAVFs at 1 and 2 years were 39.3% and 31.0% for those <65 years; 53.30% and 37.5% for those 65 to 79, and 46.3% and 42.6% for those ≥80. No factors analyzed were associated with loss of primary functional patency of BCAVFs.ConclusionsAge did not affect usability, primary or secondary patency of either RCAVFs or BCAVFs. Although patient selection is important, even patients ≥80 years who are considered suitable for surgical placement of access should not be denied a RCAVF solely because of age

Hanging-related injury in Pietermaritzburg, South Africa

Background. Hanging is a common form of self-harm, and emergency care physicians will not infrequently be called upon to manage a survivor.Despite the relative frequency of the injury, there is a paucity of literature on the topic and the spectrum and incidence of associated injuries are poorly described.Objectives. To review experience with management of victims of hanging at a major trauma centre in South Africa.Methods. All patients treated by the Pietermaritzburg Metropolitan Trauma Service following a hanging incident between December 2012 and December 2018 were identified from the Hybrid Electronic Medical Registry. Basic demographics were recorded, and the management and outcome of each patient were noted.Results. During the 6-year period under review, a total of 154 patients were seen following a hanging incident. The mean age was 29.4 years. There were 24 females (15.6%) and 130 males (84.4%). The vast majority (n=150; 97.5%) had attempted suicide, and only 4 hangings (2.5%) were accidental. A total of 92 patients (60.9%) had consumed alcohol prior to the incident. There were 23 patients with a Glasgow Coma Score (GCS) &lt;9 (severe traumatic brain injury (TBI)), 14 with a GCS of 9 - 12 (moderate TBI) and 117 with a GCS &gt;12 (mild TBI). A total of 7 patients (4.5%) required intensive care unit admission, and 25 (16.2%) required intubation. The following extracranial injuries were documented on computed tomography scans: hyoid bone fractures (n=2), cervical spine fracture (n=10), mandible fracture (n=4) and oesophageal injury (n=1). Intracranial pathology was evident on 27.0% of scans, with the most common finding being global cerebral ischaemia. The mortality rate was 2.5% (4/154).Conclusions. Hanging is a common mechanism of self-harm. It is associated with significant injuries and mortality. The acute management of hanging should focus on airway protection followed by detailed imaging of the head and neck. Further work must attempt to include mortuary data on hanging.

Changing social contracts in climate-change adaptation

Risks from extreme weather events are mediated through state, civil society and individual action 1 , 2 . We propose evolving social contracts as a primary mechanism by which adaptation to climate change proceeds. We use a natural experiment of policy and social contexts of the UK and Ireland affected by the same meteorological event and resultant flooding in November 2009. We analyse data from policy documents and from household surveys of 356 residents in western Ireland and northwest England. We find significant differences between perceptions of individual responsibility for protection across the jurisdictions and between perceptions of future risk from populations directly affected by flooding events. These explain differences in stated willingness to take individual adaptive actions when state support retrenches. We therefore show that expectations for state protection are critical in mediating impacts and promoting longer-term adaptation. We argue that making social contracts explicit may smooth pathways to effective and legitimate adaptation

Patterns of public participation: opportunity structures and mobilization from a cross-national perspective

Purpose: The paper summarizes data from twelve countries, chosen to exhibit wide variation, on the role and place of public participation in the setting of priorities. It seeks to exhibit cross-national patterns in respect of public participation, linking those differences to institutional features of the countries concerned. Design/methodology/approach: The approach is an example of case-orientated qualitative assessment of participation practices. It derives its data from the presentation of country case studies by experts on each system. The country cases are located within the historical development of democracy in each country. Findings: Patterns of participation are widely variable. Participation that is effective through routinized institutional processes appears to be inversely related to contestatory participation that uses political mobilization to challenge the legitimacy of the priority setting process. No system has resolved the conceptual ambiguities that are implicit in the idea of public participation. Originality/value: The paper draws on a unique collection of country case studies in participatory practice in prioritization, supplementing existing published sources. In showing that contestatory participation plays an important role in a sub-set of these countries it makes an important contribution to the field because it broadens the debate about public participation in priority setting beyond the use of minipublics and the observation of public representatives on decision-making bodies

A survey of medical students to assess their exposure to and knowledge of renal transplantation

BACKGROUND: Within the field of renal transplantation there is a lack of qualified and trainee surgeons and a shortage of donated organs. Any steps to tackle these issues should, in part, be aimed at future doctors. METHODS: A questionnaire was distributed to final year students at a single medical school in the UK to assess their exposure to and knowledge of renal transplantation. RESULTS: Although 46% of responding students had examined a transplant recipient, only 14% had ever witnessed the surgery. Worryingly, 9% of students believed that xenotransplantation commonly occurs in the UK and 35% were unable to name a single drug that a recipient may need to take. CONCLUSIONS: This survey demonstrates a lack of exposure to, and knowledge of, the field of renal transplantation. Recommendations to address the problems with the recruitment of surgeons and donation of organs, by targeting medical students are made