Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany

Br J Haematol. 1998 Dec;103(3):842-5. Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany. Nielsen P, Carpinteiro S, Fischer R, Cabeda JM, Porto G, Gabbe EE. Abteilung für Medizinische Biochemie, Universitätskrankenhaus Eppendorf, Hamburg, Germany. Abstract Mutation analysis was performed for two HFE mutations (C282Y, H63D) in unrelated patients with hereditary haemochromatosis (n = 92), family members of patients (n = 34), and unrelated controls (n = 157) from Northern Germany, 87/92 patients (94.6%) revealed the C282Y mutation in homozygous form, five were heterozygous. No H63D mutation was found in 174 chromosomes of patients homozygous for C282Y, whereas four of the heterozygote patients also carried the H63D mutation. Among the control group, 9.6% were heterozygotes for C282Y. 2/157 subjects were homozygous, 37/157 were heterozygous for the H63D mutation, but showed no signs of iron overload. PMID: 9858243 [PubMed - indexed for MEDLINE

Long-term health status and trajectories of seriously injured patients: A population-based longitudinal study

Improved understanding of the quality of survival of patients is crucial in evaluating trauma care, understanding recovery patterns and timeframes, and informing healthcare, social, and disability service provision. We aimed to describe the longer-term health status of seriously injured patients, identify predictors of outcome, and establish recovery trajectories by population characteristics.A population-based, prospective cohort study using the Victorian State Trauma Registry (VSTR) was undertaken. We followed up 2,757 adult patients, injured between July 2011 and June 2012, through deaths registry linkage and telephone interview at 6-, 12-, 24-, and 36-months postinjury. The 3-level EuroQol 5 dimensions questionnaire (EQ-5D-3L) was collected, and mixed-effects regression modelling was used to identify predictors of outcome, and recovery trajectories, for the EQ-5D-3L items and summary score. Mean (SD) age of participants was 50.8 (21.6) years, and 72% were male. Twelve percent (n = 333) died during their hospital stay, 8.1% (n = 222) of patients died postdischarge, and 155 (7.0%) were known to have survived to 36-months postinjury but were lost to follow-up at all time points. The prevalence of reporting problems at 36-months postinjury was 37% for mobility, 21% for self-care, 47% for usual activities, 50% for pain/discomfort, and 41% for anxiety/depression. Continued improvement to 36-months postinjury was only present for the usual activities item; the adjusted relative risk (ARR) of reporting problems decreased from 6 to 12 (ARR 0.87, 95% CI: 0.83-0.90), 12 to 24 (ARR 0.94, 95% CI: 0.90-0.98), and 24 to 36 months (ARR 0.95, 95% CI: 0.95-0.99). The risk of reporting problems with pain or discomfort increased from 24- to 36-months postinjury (ARR 1.06, 95% CI: 1.01, 1.12). While loss to follow-up was low, there was responder bias with patients injured in intentional events, younger, and less seriously injured patients less likely to participate; therefore, these patient subgroups were underrepresented in the study findings.The prevalence of ongoing problems at 3-years postinjury is high, confirming that serious injury is frequently a chronic disorder. These findings have implications for trauma system design. Investment in interventions to reduce the longer-term impact of injuries is needed, and greater investment in primary prevention is needed

Traumatic injury survivors’ perceptions of their future: a longitudinal qualitative study

AIM: Persistent disability following traumatic injuries can disrupt future plans and create uncertainty about how to mitigate future impacts. It is unknown how or whether perceptions of the future change in the years after injury. Therefore, the aim of this study was to explore trauma survivors’ perceptions of their future over time. METHODS: A longitudinal qualitative study, nested within a population-based longitudinal cohort study, was undertaken in Victoria, Australia with survivors of serious injury. Sixty-six seriously injured adults (≥16 years) without severe neurotrauma were interviewed at 3 years post-injury (n = 66), and re-interviewed at 4 (n = 63) and 5 years (n = 57) post-injury. A longitudinal thematic analysis was performed. RESULTS: Many traumatically injured people had persistent physical and mental impacts. Participants reported being anxious about pain, mobility, work, housing and accommodation, social activities, and finances in their future. Others were hopeful and optimistic regarding their future and developed coping strategies and adopted new viewpoints. CONCLUSION: ver time, most seriously injured people’s perceptions of the future remained consistent. Some had enduring anxiety and others sustained hopeful approaches. Personalised and targeted interventions that address specific concerns could reduce anxiety and support positive adjustment following traumatic injury

The role of social networks in supporting the travel needs of people after serious traumatic injury: a nested qualitative study

This study explores the importance of social networks and transport for people who had experienced a traumatic injury three years earlier. Many participants found travelling difficult because of pain, discomfort, fatigue and mobility impairments caused by their injuries which led them to be highly dependent on being a passenger in cars driven by others, or on public transport and taxis, to meet their travels needs. After injury, participants’ needs to travel were often high because they had to attend regular medical and physiotherapy appointments. They also needed to be able to travel to reengage with social activities. For those who used public transport or taxis, new challenges were faced in terms of the preplanning, lack of accessibility and availability of these modes. Participants that lived in rural areas with infrequent public transport keenly felt their dependence on others for transport as did those who were wheelchair dependent where car based travel was the only option. Participants described their dependence on others for travel as feeling they were a burden. For some participants their social network could not help with travel. This meant that they either did not travel or had to absorb the costs of taxis. Practical support from the Transport Accident Commission compensation scheme in terms of taxi vouchers were useful and appreciated. However, the service provided by taxis was perceived as costly and, at times, described as unreliable and unsafe. There were many hidden costs related to supporting the travel needs of injured people. Participants who could not travel and reengage with social activities felt emotionally low, isolated and vulnerable. Service providers need to consider injured people’s ability to access support for travel, the availability of accessible transport and help with travel costs in order to support their physical and psychological recovery

Patient-identified information and communication needs in the context of major trauma

Background: Navigating complex health care systems during the multiple phases of recovery following major trauma entails many challenges for injured patients. Patients’ experiences communicating with health professionals are of particular importance in this context. The aim of this study was to explore seriously injured patients’ perceptions of communication with and information provided by health professionals in their first 3-years following injury. Methods: A qualitative study designed was used, nested within a population-based longitudinal cohort study. Semi-structured telephone interviews were undertaken with 65 major trauma patients, aged 17 years and older at the time of injury, identified through purposive sampling from the Victorian State Trauma Registry. A detailed thematic analysis was undertaken using a framework approach. Results: Many seriously injured patients faced barriers to communication with health professionals in the hospital, rehabilitation and in the community settings. Key themes related to limited contact with health professionals, insufficient information provision, and challenges with information coordination. Communication difficulties were particularly apparent when many health professionals were involved in patient care, or when patients transitioned from hospital to rehabilitation or to the community. Difficulties in patient-health professional engagement compromised communication and exchange of information particularly at transitions of care, e.g., discharge from hospital. Conversely, positive attributes displayed by health professionals such as active discussion, clear language, listening and an empathetic manner, all facilitated effective communication. Most patients preferred communication consistent with patient-centred approaches, and the use of multiple modes to communicate information. Conclusions: The communication and information needs of seriously injured patients were inconsistently met over the course of their recovery continuum. To assist patients along their recovery trajectories, patient-centred communication approaches and considerations for environmental and patients’ health literacy are recommended. Additionally, assistance with information coordination and comprehensive multimodal information provision should be available for injured patients.Sandra Braaf, Shanthi Ameratunga, Andrew Nunn, Nicola Christie, Warwick Teague, Rodney Judson and Belinda J. Gabb

Moving beyond physical education subject knowledge to develop knowledgeable teachers of the subject

All knowledge is socially constructed, including physical education teachers’ knowledge of their subject. It is acquired from other people either formally and deliberately (e.g. by being taught) or informally and casually (e.g. by interacting with physical education teachers or playing in a sports team). The social aspects of learning appear to be particularly strong in physical education. This has implications for the development of knowledge for teaching, with trainee teachers focusing on the development of subject, and particularly content, knowledge. Focusing on subject knowledge reinforces a traditional view of physical education as it is, not as it might be to meet the needs of young people today. It is argued that attention needs to be given not only to the knowledge, skills and competencies that trainee teachers ought to develop but also to the social aspects of their learning and development and the context in which they learn. Attention also needs to be given to how the ability to think critically can be developed so that trainee teachers can become reflective practitioners able to challenge and, where appropriate, change the teaching of the subject. Only by doing this can the particularly strong socialisation which shapes the values and beliefs of physical education teachers begin to be challenged. However, as the process of developing knowledgeable teachers is ongoing it is also necessary to look beyond teacher training to continuing professional development

Moving beyond physical education subject knowledge to develop knowledgeable teachers of the subject

All knowledge is socially constructed, including physical education teachers’ knowledge of their subject. It is acquired from other people either formally and deliberately (e.g. by being taught) or informally and casually (e.g. by interacting with physical education teachers or playing in a sports team). The social aspects of learning appear to be particularly strong in physical education. This has implications for the development of knowledge for teaching, with trainee teachers focusing on the development of subject, and particularly content, knowledge. Focusing on subject knowledge reinforces a traditional view of physical education as it is, not as it might be to meet the needs of young people today. It is argued that attention needs to be given not only to the knowledge, skills and competencies that trainee teachers ought to develop but also to the social aspects of their learning and development and the context in which they learn. Attention also needs to be given to how the ability to think critically can be developed so that trainee teachers can become reflective practitioners able to challenge and, where appropriate, change the teaching of the subject. Only by doing this can the particularly strong socialisation which shapes the values and beliefs of physical education teachers begin to be challenged. However, as the process of developing knowledgeable teachers is ongoing it is also necessary to look beyond teacher training to continuing professional development

Decision-to-incision times and maternal and infant outcomes.

Journal ArticleOBJECTIVE: To measure decision-to-incision intervals and related maternal and neonatal outcomes in a cohort of women undergoing emergency cesarean deliveries at multiple university-based hospitals comprising the National Institute of Child Health and Human Development Maternal-Fetal Medicine Units Network. METHODS: All women undergoing a primary cesarean delivery at a Network center during a 2-year time span were prospectively ascertained. Emergency procedures were defined as those performed for umbilical cord prolapse, placental abruption, placenta previa with hemorrhage, nonreassuring fetal heart rate pattern, or uterine rupture. Detailed information regarding maternal and neonatal outcomes, including the interval from the decision time to perform cesarean delivery to the actual skin incision, was collected. RESULTS: Of the 11,481 primary cesarean deliveries, 2,808 were performed for an emergency indication. Of these, 1,814 (65%) began within 30 minutes of the decision to operate. Maternal complication rates, including endometritis, wound infection, and operative injury, were not related to the decision-to-incision interval. Measures of newborn compromise including umbilical artery pH less than 7 and intubation in the delivery room were significantly greater when the cesarean delivery was commenced within 30 minutes, likely attesting to the need for expedited delivery. Of the infants with indications for an emergency cesarean delivery who were delivered more than 30 minutes after the decision to operate, 95% did not experience a measure of newborn compromise. CONCLUSION: Approximately one third of primary cesarean deliveries performed for emergency indications are commenced more than 30 minutes after the decision to operate, and the majority were for nonreassuring heart rate tracings. In these cases, adverse neonatal outcomes were not increased. LEVEL OF EVIDENCE: II-2

The epidemiology of injuries across the weight-training sports

Background: Weight-training sports, including weightlifting, powerlifting, bodybuilding, strongman, Highland Games, and CrossFit, are weight-training sports that have separate divisions for males and females of a variety of ages, competitive standards, and bodyweight classes. These sports may be considered dangerous because of the heavy loads commonly used in training and competition. Objectives: Our objective was to systematically review the injury epidemiology of these weight-training sports, and, where possible, gain some insight into whether this may be affected by age, sex, competitive standard, and bodyweight class. Methods: We performed an electronic search using PubMed, SPORTDiscus, CINAHL, and Embase for injury epidemiology studies involving competitive athletes in these weight-training sports. Eligible studies included peer-reviewed journal articles only, with no limit placed on date or language of publication. We assessed the risk of bias in all studies using an adaption of the musculoskeletal injury review method. Results: Only five of the 20 eligible studies had a risk of bias score ≥75 %, meaning the risk of bias in these five studies was considered low. While 14 of the studies had sample sizes >100 participants, only four studies utilized a prospective design. Bodybuilding had the lowest injury rates (0.12–0.7 injuries per lifter per year; 0.24–1 injury per 1000 h), with strongman (4.5–6.1 injuries per 1000 h) and Highland Games (7.5 injuries per 1000 h) reporting the highest rates. The shoulder, lower back, knee, elbow, and wrist/hand were generally the most commonly injured anatomical locations; strains, tendinitis, and sprains were the most common injury type. Very few significant differences in any of the injury outcomes were observed as a function of age, sex, competitive standard, or bodyweight class. Conclusion: While the majority of the research we reviewed utilized retrospective designs, the weight-training sports appear to have relatively low rates of injury compared with common team sports. Future weight-training sport injury epidemiology research needs to be improved, particularly in terms of the use of prospective designs, diagnosis of injury, and changes in risk exposure

Differences in the epidemiology of out-of-hospital and in-hospital trauma deaths

BACKGROUND: Trauma is a leading cause of mortality. Holistic views of trauma systems consider injury as a public health problem that requires efforts in primary, secondary and tertiary prevention. However, the performance of trauma systems is commonly judged on the in-hospital mortality rate. Such a focus misses opportunities to consider all deaths within a population, to understand differences in in-hospital and out-of-hospital trauma deaths and to inform population-level injury prevention efforts. The aim of this study was to provide an epidemiological overview of out-of-hospital and in-hospital trauma deaths in a geographically-defined area over a 10-year period. METHODS: We performed a population-based review of out-of-hospital and in-hospital trauma deaths over the period of 01 July 2006 to 30 June 2016 in Victoria, Australia, using data from the National Coronial Information System and the Victorian State Trauma Registry. Temporal trends in population-based incidence rates were evaluated. RESULTS: Over the study period, there were 11,246 trauma deaths, of which 71% were out-of-hospital deaths. Out-of-hospital trauma deaths commonly resulted from intentional self-harm events (50%) and transport events (35%), while in-hospital trauma deaths commonly resulted from low falls (≤1 metre) (50%). The incidence of overall trauma deaths did not change over the study period (incidence rate ratio 0.998; 95%CI: 0.991, 1.004; P = 0.56). CONCLUSIONS: Out-of-hospital deaths accounted for most trauma deaths. Given the notable differences between out-of-hospital and in-hospital trauma deaths, monitoring of all trauma deaths is necessary to inform injury prevention activities and to reduce trauma mortality. The absence of a change in the incidence of both out-of-hospital and in-hospital trauma deaths demonstrates the need for enhanced activities across all aspects of injury prevention