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.

Characterizing long-term outcomes following AMA discharges after assault-related penetrating trauma.

Background: Patients discharged against medical advice do not receive adequate treatment and have a greater risk of readmission. This study assessed the rate of discharges against medical advice following assault-related penetrating trauma, with secondary aims to evaluate long term pre/post-injury hospitalizations and mortality.

Methods: Adult assault-related penetrating injuries admitted to a Level 1 Trauma Center were identified in the prospectively maintained database.

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.

Antibody production in mice requires neither vitamin D, nor the vitamin D receptor.

The vitamin D receptor as well as its ligand have been localized to various immune tissues and cells. These observations have led researchers to hypothesize a role for vitamin D in the immune system. However, a specific role for vitamin D in immunity has yet to be clearly delineated.

Outcomes of Patients Undergoing Interfacility Extracorporeal Membrane Oxygenation Transfer Based on Cannulation Location and Mode of Transport.

Unlabelled: As the use of extracorporeal membrane oxygenation (ECMO) expands, so has the need for interfacility transfer to ECMO centers. However, the impact of these transfers has not been fully studied. This study evaluates complications and inhospital mortality in adult patients treated with venovenous (V-V) ECMO based on institutional location of cannulation and mode of transport.

Operationalizing Ethical Guidance for Ventilator Allocation in Minnesota: Saving the Most Lives or Exacerbating Health Disparities?

Unlabelled: A statewide working group in Minnesota created a ventilator allocation scoring system in anticipation of functioning under a Crisis Standards of Care declaration. The scoring system was intended for patients with and without coronavirus disease 2019. There was disagreement about whether the scoring system might exacerbate health disparities and about whether the score should include age.

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.

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.

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).

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).

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.

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.

Non-operative management of medial meniscus posterior horn root tears is associated with worsening arthritis and poor clinical outcome at 5-year follow-up.

Purpose: Medial meniscus posterior root tears (MMPRTs) are a significant source of pain and dysfunction, but little is known about the natural history and outcome and for non-operative management of these lesions. The purpose of this study was to evaluate (1) the mid-term clinical and radiographic outcomes of non-operative treatment of MMPRTs and (2) risk factors for worse outcomes.

Methods: A retrospective review was performed for patients with symptomatic, unrepaired MMPRTs and a minimum 2-year follow-up for IKDC and Tegner outcome scores.

Family-specific Kinesin Structures Reveal Neck-linker Length Based on Initiation of the Coiled-coil.

Kinesin-1, -2, -5, and -7 generate processive hand-over-hand 8-nm steps to transport intracellular cargoes toward the microtubule plus end. This processive motility requires gating mechanisms to coordinate the mechanochemical cycles of the two motor heads to sustain the processive run. A key structural element believed to regulate the degree of processivity is the neck-linker, a short peptide of 12-18 residues, which connects the motor domain to its coiled-coil stalk.

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).

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.

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.

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).

Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi.

We report the exclusion of late infantile neuronal ceroid lipofuscinosis in a fetus by assay of tripeptidyl peptidase I activity and by mutational analysis in chorionic villi. This is the first pregnancy at risk for LINCL to be monitored by enzyme assay. No morphological abnormalities were detected.