GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.

Familial hypocalciuric hypercalcemia type 2 (FHH2) and autosomal dominant hypocalcemia type 2 (ADH2) are due to loss- and gain-of-function mutations, respectively, of the GNA11 gene that encodes the G protein subunit Gα11, a signaling partner of the calcium-sensing receptor (CaSR). To date, four probands with FHH2-associated Gα11 mutations and eight probands with ADH2-associated Gα11 mutations have been reported. In a 10-year period, we identified 37 different germline GNA11 variants in >1200 probands referred for investigation of genetic causes for hypercalcemia or hypocalcemia, comprising 14 synonymous, 12 noncoding, and 11 nonsynonymous variants.

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.

WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of histones. We collected data from 11 unrelated individuals with six different rare germline missense variants in ; one identical variant was found in five individuals and another variant in two individuals.

The British Orthopaedic Surgery Surveillance study: slipped capital femoral epiphysis: the epidemiology and two-year outcomes from a prospective cohort in Great Britain.

Aims: The aim of this study was to inform the epidemiology and treatment of slipped capital femoral epiphysis (SCFE).

Methods: This was an anonymized comprehensive cohort study, with a nested consented cohort, following the the Idea, Development, Exploration, Assessment, Long-term study (IDEAL) framework. A total of 143 of 144 hospitals treating SCFE in Great Britain participated over an 18-month period.

The British Orthopaedic Surgery Surveillance study: Perthes' disease: the epidemiology and two-year outcomes from a prospective cohort in Great Britain.

Aims: The aim of this study was to evaluate the epidemiology and treatment of Perthes' disease of the hip.

Methods: This was an anonymized comprehensive cohort study of Perthes' disease, with a nested consented cohort. A total of 143 of 144 hospitals treating children's hip disease in the UK participated over an 18-month period.

A ruptured ovarian cystadenofibroma presenting with life-threatening sepsis and an incidental synchronous endometrial stromal sarcoma.

A woman in her 60s presented with a rare complication of an ovarian cyst which many clinicians may not consider at first presentation. She was admitted with life-threatening staphylococcus aureus sepsis. She presented shocked with a collapse following a 2-day history of diarrhoea, vomiting and pain in the right iliac fossa.

Evaluating the Usefulness and Acceptability of a Revision-Purposed 'Specialties' Webinar for Educating UK-Based Fifth and Final Year Medical Students During the COVID-19 Pandemic: Is This the Future of Medical Education?

Background: To assess whether an online course is a useful method of learning for medical students revising for specialty examinations in the context of social distancing restrictions during the COVID-19 pandemic.

Methods: A free, one-day webinar was offered to fifth and final year medical students with an examination-based approach. Teaching was delivered by trainees in Psychiatry, Obstetrics and Gynaecology and Paediatrics (the 'specialties').

Economic evaluation of different routes of surgery for the management of endometrial cancer: a retrospective cohort study.

Objectives: The benefits of minimally invasive surgery (MIS) for endometrial carcinoma (EC) are well established although the financial impact of robotic-assisted hysterectomy (RH) compared with laparoscopic hysterectomy (LH) is disputed.

Design: Retrospective cohort study.

Setting: English National Health Service hospitals 2011-2017/2018.

Caring for critically ill adults in paediatric intensive care units in England during the COVID-19 pandemic: planning, implementation and lessons for the future.

Objective: To describe the experience of paediatric intensive care units (PICUs) in England that repurposed their units, equipment and staff to care for critically ill adults during the first wave of the COVID-19 pandemic.

Design: Descriptive study.

Setting: Seven PICUs in England.

Immune reconstitution and clinical recovery following anti-CD28 antibody (TGN1412)-induced cytokine storm.

Cytokine storm can result from cancer immunotherapy or certain infections, including COVID-19. Though short-term immune-related adverse events are routinely described, longer-term immune consequences and sequential immune monitoring are not as well defined. In 2006, six healthy volunteers received TGN1412, a CD28 superagonist antibody, in a first-in-man clinical trial and suffered from cytokine storm.

Surgical trends, outcomes and disparities in minimal invasive surgery for patients with endometrial cancer in England: a retrospective cohort study.

Objective: To examine surgical outcomes and trends in the implementation of minimally invasive surgery (MIS) use for endometrial cancer (EC).

Design: Retrospective cohort study.

Setting: English National Health Service hospitals 2011-2017/2018.

Meta-analysis and trial sequential analysis of robotic versus laparoscopic total mesorectal excision in management of rectal cancer.

Background: We aimed to evaluate comparative outcomes of robotic and laparoscopic total mesorectal excision (TME) in patients with rectal cancer.

Methods: We systematically searched electronic data sources with application of combination of free text and controlled vocabulary search adapted to thesaurus headings, search operators, and limits. Perioperative clinical and short-term oncological outcomes were evaluated.

Intussusception of a large circumferential caecal adenoma with ileocaecal valve consumption.

We present a case of an unusually large, circumferential tubulovillous adenoma involving the terminal ileum and the caecum with ileocaecal valve consumption, presenting as intussusception in an otherwise healthy 90-year-old woman. The patient presented with several months of chronic symptoms of weight loss and diarrhoea. Clinical examination revealed a right-sided mass.

Association of Genomic Domains in and with Prostate Cancer Risk and Aggressiveness.

Pathogenic sequence variants (PSV) in or () are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 and 171 male PSV carriers with prostate cancer, and 3,388 and 2,880 male PSV carriers without prostate cancer. PSVs in the 3' region of (c.

Placing education at the centre of the outpatient clinic improves learning and experiences for everyone using the multilevel attainment of learning, teaching and support (MALTS) approach.

A large proportion of consultant time is spent in outpatient practice. This setting provides an excellent learning environment for different levels of a trainee if well organised. This article describes an evidence-based teaching approach and its evaluation by trainees, patients and carers in a typical district general hospital setting which it is hoped others might find helpful.

Early versus deferred endovenous ablation of superficial venous reflux in patients with venous ulceration: the EVRA RCT.

Background: Venous ulceration is a common and costly health-care issue worldwide, with poor healing rates greatly affecting patient quality of life. Compression bandaging has been shown to improve healing rates and reduce recurrence, but does not address the underlying cause, which is often superficial venous reflux. Surgical correction of the reflux reduces ulcer recurrence; however, the effect of early endovenous ablation of superficial venous reflux on ulcer healing is unclear.

Patient reported outcomes for preschool children with recurrent wheeze.

Children with preschool wheeze regularly attend UK emergency departments. There is no international consensus on any specific personalised management approach. This paper describes the first attempt to co-design patient-centred outcomes with families.

Cost-effectiveness analysis of a randomized clinical trial of early versus deferred endovenous ablation of superficial venous reflux in patients with venous ulceration.

Background: Treatment of superficial venous reflux in addition to compression therapy accelerates venous leg ulcer healing and reduces ulcer recurrence. The aim of this study was to evaluate the costs and cost-effectiveness of early versus delayed endovenous treatment of patients with venous leg ulcers.

Methods: This was a within-trial cost-utility analysis with a 1-year time horizon using data from the EVRA (Early Venous Reflux Ablation) trial.

Performance Improvement (Pi) score: an algorithm to score Pi objectively during E-BLUS hands-on training sessions. A European Association of Urology, Section of Uro-Technology (ESUT) project.

Objective: To evaluate the variability of subjective tutor performance improvement (Pi) assessment and to compare it with a novel measurement algorithm: the Pi score.

Materials And Methods: The Pi-score algorithm considers time measurement and number of errors from two different repetitions (first and fifth) of the same training task and compares them to the relative task goals, to produce an objective score. We collected data during eight courses on the four European Association of Urology training in Basic Laparoscopic Urological Skills (E-BLUS) tasks.

A Randomized Trial of Early Endovenous Ablation in Venous Ulceration.

Background: Venous disease is the most common cause of leg ulceration. Although compression therapy improves venous ulcer healing, it does not treat the underlying causes of venous hypertension. Treatment of superficial venous reflux has been shown to reduce the rate of ulcer recurrence, but the effect of early endovenous ablation of superficial venous reflux on ulcer healing remains unclear.

The European Urology Residents Education Programme Hands-on Training Format: 4 Years of Hands-on Training Improvements from the European School of Urology.

Background: The European School of Urology (ESU) started the European Urology Residents Education Programme (EUREP) in 2003 for final year urology residents, with hands-on training (HOT) added later in 2007.

Objective: To assess the geographical reach of EUREP, trainee demographics, and individual quality feedback in relation to annual methodology improvements in HOT.

Design, Setting, And Participants: From September 2014 to October 2017 (four EUREP courses) several new features have been applied to the HOT format of the EUREP course: 1:1 training sessions (2015), fixed 60-min time slots (2016), and standardised teaching methodology (2017).

Quality of leadership in multidisciplinary cancer tumor boards: development and evaluation of a leadership assessment instrument (ATLAS).

Background: High-quality leadership and chairing skills are vital for good performance in multidisciplinary tumor boards (MTBs), but no instruments currently exist for assessing and improving these skills.

Objective: To construct and validate a robust instrument for assessment of MTB leading and chairing skills.

Design And Setting: We developed an observational MTB leadership assessment instrument (ATLAS).