EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.

Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition associated with increased risk of cancers. The past decade has brought about significant changes to hereditary breast and ovarian cancer (HBOC) diagnostic testing with new treatments, testing methods and strategies, and evolving information on genetic associations. These best practice guidelines have been produced to assist clinical laboratories in effectively addressing the complexities of HBOC testing, while taking into account advancements since the last guidelines were published in 2007. These guidelines summarise cancer risk data from recent studies for the most commonly tested high and moderate risk HBOC genes for laboratories to refer to as a guide. Furthermore, recommendations are provided for somatic and germline testing services with regards to clinical referral, laboratory analyses, variant interpretation, and reporting. The guidelines present recommendations where 'must' is assigned to advocate that the recommendation is essential; and 'should' is assigned to advocate that the recommendation is highly advised but may not be universally applicable. Recommendations are presented in the form of shaded italicised statements throughout the document, and in the form of a table in supplementary materials (Table S4). Finally, for the purposes of encouraging standardisation and aiding implementation of recommendations, example report wording covering the essential points to be included is provided for the most common HBOC referral and reporting scenarios. These guidelines are aimed primarily at genomic scientists working in diagnostic testing laboratories.

Covid-19: Exploring medico-legal perceptions amongst orthopaedic surgeons and lawyers.

INTRODUCTION: British national guidelines and laws published by the British Orthopaedic Association and the new Coronovirus Act 2020 favoured treatment of trauma and orthopaedic conditions with non-operative alternatives.A survey was developed for both lawyers and trauma and orthopaedic clinicians to gauge their perceptions on guidelines related to protection of trauma and orthopaedic staff, and on prosecution with respect to future claims. MATERIAL AND METHODS: Sixteen questions were designed for surgeons and 11 questions for lawyers. The level of experience and career stages were explored in other questions. A Likert scale (0-5) was used to capture these perceptions. RESULTS: Clinicians envisaged themselves being less protected (mean = 2.6), forecasted a rise in negligence claims (mean = 3.4) and perceived little additional beneficial indemnity influence from the NHS (mean = 1.8). Lawyers felt that public perception would have more influence in negligence claim rates (mean = 2.6) and disapproved of complete immunity for clinicians (mean = 0.5). Disparities between different trauma and orthopaedic grades demonstrated sentiments of comfort with redeployment, preparedness in non-orthopaedic training and protection from litigation. DISCUSSION: The results reflected the overall anxiety over litigation reprisal shared amongst trauma and orthopaedic staff. Issues with providing sub-optimal care can worsen this overall fear. Feeling unprotected from litigation reprisal can leave clinicians with an additional sense of emotional and professional burden. Redeployment into unfamiliar environments can leave senior clinicians in limbo in contrast to their juniors. CONCLUSION: Non-surgical options to treat orthopaedic conditions affect both patients and trauma and orthopaedic staff. Feedback from lawyers reassures trauma and orthopaedic clinicians that negligence claims should not rise due to the updated national guidelines.

The perceived global impact of the COVID-19 pandemic on doctors' medical and surgical training: An international survey.

INTRODUCTION: The COVID-19 pandemic has resulted in a significant burden on healthcare systems causing disruption to the medical and surgical training of doctors globally. AIMS AND OBJECTIVES: This is the first international survey assessing the perceived impact of the COVID-19 pandemic on the training of doctors of all grades and specialties. METHODS: An online global survey was disseminated using Survey Monkey® between 4th August 2020 and 17th November 2020. A global network of collaborators facilitated participant recruitment. Data were collated anonymously with informed consent and analysed using univariate and adjusted multivariable analyses. RESULTS: Seven hundred and forty-three doctors of median age 27 (IQR: 25-30) were included with the majority (56.8%, n = 422) being male. Two-thirds of doctors were in a training post (66.5%, n = 494), 52.9% (n = 393) in a surgical specialty and 53.0% (n = 394) in low- and middle-income countries. Sixty-nine point two percent (n = 514) reported an overall perceived negative impact of the COVID-19 pandemic on their training. A significant decline was noted amongst non-virtual teaching methods such as face-to-face lectures, tutorials, ward-based teaching, theatre sessions, conferences, simulation sessions and morbidity and mortality meetings (P ≤ .05). Low or middle-income country doctors' training was associated with perceived inadequate supervision while performing invasive procedures under general, local or regional anaesthetic. (P ≤ .05). CONCLUSION: In addition to the detrimental impact of the COVID-19 pandemic on healthcare infrastructure, this international survey reports a widespread perceived overall negative impact on medical and surgical doctors' training globally. Ongoing adaptation and innovation will be required to enhance the approach to doctors' training and learning in order to ultimately improve patient care.

Mental health symptoms in a cohort of hospital healthcare workers following the first peak of the COVID-19 pandemic in the UK.

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic is likely to lead to a significant increase in mental health disorders among healthcare workers (HCW). AIMS: We evaluated the rates of anxiety, depressive and post-traumatic stress disorder (PTSD) symptoms in a population of HCW in the UK. METHOD: An electronic survey was conducted between the 5 June 2020 and 31 July 2020 of all hospital HCW in the West Midlands, UK using clinically validated questionnaires: the 4-item Patient Health Questionnaire(PHQ-4) and the Impact of Event Scale-Revised (IES-R). Univariate analyses and adjusted logistic regression analyses were performed to estimate the strengths in associations between 24 independent variables and anxiety, depressive or PTSD symptoms. RESULTS: There were 2638 eligible participants who completed the survey (female: 79.5%, median age: 42 years, interquartile range: 32-51). The rates of clinically significant symptoms of anxiety, depression and PTSD were 34.3%, 31.2% and 24.5%, respectively. In adjusted analysis a history of mental health conditions was associated with clinically significant symptoms of anxiety (odds ratio (OR) = 2.3, 95% CI 1.9-2.7, P < 0.001), depression (OR = 2.5, 95% CI 2.1-3.0, P < 0.001) and PTSD (OR = 2.1, 95% CI 1.7-2.5, P < 0.001). The availability of adequate personal protective equipment (PPE), well-being support and lower exposure to moral dilemmas at work demonstrated significant negative associations with these symptoms (P ≤ 0.001). CONCLUSIONS: We report higher rates of clinically significant mental health symptoms among hospital HCW following the initial COVID-19 pandemic peak in the UK. Those with a history of mental health conditions were most at risk. Adequate PPE availability, access to well-being support and reduced exposure to moral dilemmas may protect hospital HCW from mental health symptoms.

The Assessment and Management of the Arthritic Knee: An Update.

Musculoskeletal disorders represent a significant primary care burden. Presentations pertaining to the painful knee are associated with a wide array of differentials; however, among these, osteoarthritis (OA) is the most common one in patients older than 45 years. We have found that a significant number of onward secondary care referrals are misdirected. Therefore, there is a need for a comprehensive assessment and workup to ensure holistic patient care and timely input from specialist services. In this article, we highlight an approach to the management of the arthritic knee.

The incidence of venous thromboembolism in total joint replacement during COVID-19 pandemic: has lockdown had an influence?

AIMS: As the first wave of the COVID-19 pandemic began to dip, restarting elective orthopaedics became a challenge. Protocols including surgery at 'green' sites, self-isolation for 14 days, and COVID-19 testing were developed to minimize the risk of transmission. In this study, we look at risk effects of 14-day self-isolation on the incidence of venous thromboembolism (VTE) in our green site hospital among patients undergoing total joint replacement (TJR). METHODS: This retrospective cohort study included 50 patients who underwent TJR. Basic demographic data was collected including, age, sex, American Society of Anesthesiologists (ASA) grade, body mass index (BMI), type of surgery, and complications at two and four weeks. Univariate and multivariate analysis were used to identify risk factors associated with an increased risk of VTE. RESULTS: A total of 50 patients were included in our study, with 24 males and 26 females. The mean age was 67.86 (SD 11.803). Overall, 8% of patients suffered a VTE complication; symptomatic non-fatal pulmoary embolism was confirmed in 6% of patients (n = 3) as an inpatient, and symptomatic deep vein thrombosis was diagnosed in 2% of patients (n = 1) within two weeks of their operation. All patients were found to be female (p < 0.001), had a BMI > 30 (p = 0.317), and were immobile prior to their operation using walking aids (p = 0.016). CONCLUSION: The incidence we report is much higher than the reported incidence in the literature, which we believe is related to the 14-day self-isolation period and immobility prior to their operation. We recommend that all patients undergoing TJR that require a period of self-isolation, are pre-assessed prior to self-isolation for their risk of VTE, potentially using mechanical and chemical prophylaxis to reduce the likelihood of developing VTE.Cite this article: Bone Jt Open 2020;1-12:751-756.

Impact of COVID-19 Pandemic on Trauma Theatre Efficiency.

Introduction A large transformation in the management of trauma has ensued following the COVID-19 (coronavirus disease 2019) pandemic. There has been an increase in reliance on guidance for decision-making and alterations in the working of the trauma theatre. This has largely been due to the safety measures implemented. Theatre efficiency has gained increasing importance over the years, and with the added pressure of the pandemic, it is essential that trauma theatres operate efficiently. There has been no data analysing the efficiency of trauma theatre during this pandemic. Methods and Results We retrospectively analyzed the data at our hospital and looked into the parameters to assess trauma theatre efficiency. It was noted that the operative time and anaesthetic time went up significantly in 2020 in comparison to 2019. Also, the change over time and the late start time was significantly high in 2020. A large proportion of cases did not start on time in 2020. This resulted in a decrease in the efficiency of theatre usage. Discussion Reduced productivity of the trauma theatre has been due to several reasons, many of which include implementation of safety measures, such as personal protective equipment (PPE), theatre cleaning, recovery of patients, using designated routes for transfer, and many others. The challenge lies in applying these new measures into our daily practice at the same time while providing efficient care. Conclusion Our study highlights the key areas of concern and improvement which need to be addressed in order to render effective trauma care.

How useful are virtual fracture clinics?: a systematic review.

BACKGROUND: Due to the overwhelming demand for trauma services, resulting from increasing emergency department attendances over the past decade, virtual fracture clinics (VFCs) have become the fashion to keep up with the demand and help comply with the BOA Standards for Trauma and Orthopaedics (BOAST) guidelines. In this article, we perform a systematic review asking, "How useful are VFCs?", and what injuries and conditions can be treated safely and effectively, to help decrease patient face to face consultations. Our primary outcomes were patient satisfaction, clinical efficiency and cost analysis, and clinical outcomes. METHODS: We performed a systematic literature search of all papers pertaining to VFCs, using the search engines PubMed, MEDLINE, and the Cochrane Database, according to the Preferred Reporting Items for Systematic review and Meta-Analysis (PRISMA) checklist. Searches were carried out and screened by two authors, with final study eligibility confirmed by the senior author. RESULTS: In total, 21 records were relevant to our research question. Six orthopaedic injuries were identified as suitable for VFC review, with a further four discussed in detail. A reduction of face to face appointments of up to 50% was reported with greater compliance to BOAST guidelines (46.4%) and cost saving (up to £212,000). CONCLUSIONS: This systematic review demonstrates that the VFC model can help deliver a safe, more cost-effective, and more efficient arm of the trauma service to patients.Cite this article: Bone Joint Open 2020;1-11:683-690.

Musculoskeletal screening as a predictor of seasonal injury in elite Olympic class sailors.

OBJECTIVES: To investigate seasonal injury incidence and musculoskeletal screening as a predictor of injury in elite Olympic class sailors. DESIGN: Prospective cohort study. METHODS: A 12-month analysis of injury surveillance data was performed for elite Australian sailors (age=16-30 years, N=22). Pre-season musculoskeletal screening (incorporating mobility, stability and neural tests) and seasonal injury data were analysed for predictive relationships, and associations between potential predictor variables and injury status. RESULTS: Injuries requiring medical attention occurred at a rate of 3.6 injuries/athlete, while injuries resulting in disability occurred at a rate of 0.6 injuries/athlete, with the lumbar spine the main site of injury (23% and 33%, respectively). Wrist and hand injury resulted in the highest number of days of disability (110 days), followed by injury to the lumbar spine (87 days). Across the season 75% of injuries to the lumbar spine occurred in the latter half of the season. The only screening measure predictive of injured/uninjured status was better left-sided single-leg decline-squat performance (OR=0.29; 95% CI=0.09-0.88; p=0.03), while increasing age was significantly (p=0.03) associated with thoracic (OR=1.48; 95% CI=1.03-2.12) and lumbar spine (OR=1.46; 95% CI=1.04-2.04) injury. CONCLUSIONS: Though clinically useful, current screening protocols do not adequately assess the risk of seasonal injury in elite Olympic class sailors, and should be revised. Due to the increased risk of spinal injury and potential lost/modified participation in older Olympic class sailors, injury prevention activities should be individualised and age appropriate.

Sonographic diagnosis of toddler's fracture in the emergency department.

We describe 3 cases of toddler's fracture of the tibia that were diagnosed via sonographic examination. In cases, initial radiographs did not show the fracture, whereas sonographic examination revealed a layer of low reflectivity superficial to the tibial cortex and an elevated periosteum, suggesting a fracture hematoma. The diagnosis was confirmed at 2-3 weeks with radiographs demonstrating periosteal reaction. Both fractures were treated with cast immobilization for 4 weeks and made a full recovery. The third case was diagnosed via sonography and was confirmed by the initial radiographs. These results strongly suggest that sonography can detect the presence of a fracture hematoma and thus may help diagnose this injury earlier.

R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.

Clinical picture of neuronal ceroid lipofuscinosis with late infantile onset (LINCL) is characterized by myoclonic seizures and psychomotor regression. We present a case of classic LINCL and reduced cerebrospinal fluid (CSF) pterins in a girl of normal psychomotor development and born to non-consanguineous parents. She first presented with febrile seizures at the age of four. At that time, brain computed tomography finding was normal, but electroencephalogram showed hypsarrhythmia. At the age of five, tremor, generalized ataxia, and motor and mental regression appeared. Brain magnetic resonance imaging showed cerebellar atrophy. Electron microscopy examination showed storage of intracytoplasmic curvilinear inclusions in neurons, fibroblasts, and secretory cells of the skin and rectal mucosa. Tripeptidyl peptidase I (TPP-I) activity in leukocytes was very low (5.4 nmol/h/mg protein; range in homozygote cases of LINCL, 0.4-26.0). Molecular genetic studies showed a homozygous mutation, R208X, in exon 6 of CLN2 gene. CSF analysis revealed very low neopterin (7.3 nmol/L; normal range, 9-30) and biopterin (4.1 nmol/L; normal range, 10-30), reduced homovanillic acid (266 nmol/L; normal range, 211-871), and low homovanillic acid/5-hydroxyindoleacetic acid ratio (1.21; normal ratio, 1.5-3.5). Treatment with L-Dopa/Carbidopa (4 mg/kg) and antiepileptics was introduced, but without significant effect. It seems that low CSF pterins and impaired dopamine turnover are secondary manifestations of classical LINCL caused by homozygous inheritance of the R208X mutation in CLN2 gene.

Concurrent strength and endurance training: the influence of dependent variable selection.

Twenty-six active university students were randomly allocated to resistance (R, n = 9), endurance (E, n = 8), and concurrent resistance and endurance (C, n = 9) training conditions. Training was completed 3 times per week in all conditions, with endurance training preceding resistance training in the C group. Resistance training involved 4 sets of upper- and lower-body exercises with loads of 4-8 repetition maximum (RM). Each endurance training session consisted of five 5-minute bouts of incremental cycle exercise at between 40 and 100% of peak oxygen uptake (.VO2peak). Parameters measured prior to and following training included strength (1RM and isometric and isokinetic [1.04, 3.12, 5.20, and 8.67 rad.s(-1)] strength), .VO2peak and Wingate test performance (peak power output [PPO], average power, and relative power decline). Significant improvements in 1RM strength were observed in the R and C groups following training. .VO2peak significantly increased in E and C but was significantly reduced in R after training. Effect size (ES) transformations on the other dependent variables suggested that performance changes in the C group were not always similar to changes in the R or E groups. These ES data suggest that statistical power and dependent variable selection are significant issues in enhancing our insights into concurrent training. It may be necessary to assess a range of performance parameters to monitor the relative effectiveness of a particular concurrent training regimen.