Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.

Pathogenic variants in the Glycyl-tRNA synthetase gene cause the allelic disorders Charcot-Marie-Tooth disease type 2D and distal hereditary motor neuropathy type V. We describe clinical features in 8 unrelated patients found to have Glycyl-tRNA synthetase variants by Next Generation Sequencing. In addition to upper limb predominant symptoms, other presentations included failure to thrive, feeding difficulties and lower limb dominant symptoms.

Real-World Outcomes of Selective Laser Trabeculoplasty in the United Kingdom.

Purpose: Selective laser trabeculoplasty (SLT) is a common treatment option for managing glaucoma and ocular hypertension. We assessed the real-world effectiveness of SLT and baseline factors associated with treatment success in the United Kingdom.

Design: Retrospective observational study of de-identified electronic medical records (Medisoft Glaucoma module [Medisoft Ltd, Leeds, UK]) from 5 UK ophthalmology teaching centers.

Causes of Post-Colonoscopy Colorectal Cancers Based on World Endoscopy Organization System of Analysis.

Background & Aims: Postcolonoscopy colorectal cancer (PCCRC) is CRC diagnosed after a colonoscopy in which no cancer was found. A consensus article from the World Endoscopy Organization (WEO) proposed an approach for investigating and categorizing PCCRCs detected within 4 years of a colonoscopy. We aimed to identify cases of PCCRC and the factors that cause them, test the WEO system of categorization, quantify the proportion of avoidable PCCRCs, and propose a target rate for PCCRCs detected within 3 years of a colonoscopy that did not detect CRC.

Mycotic Aneurysm of Brachial Artery Secondary to Infective Endocarditis.

Introduction: This case describes a brachial artery mycotic aneurysm (BAMA) secondary to infective endocarditis caused by . BAMAs are rare and potentially limb or life threatening. A literature review revealed 61 cases since 1950, primarily caused by intravenous drug use, with being the most common causative bacteria.

The Royal College of Ophthalmologists' National Ophthalmology Database study of cataract surgery: Report 7, immediate sequential bilateral cataract surgery in the UK: Current practice and patient selection.

Background: Cataract extraction is the most frequently performed surgical intervention in the world and demand is rising due to an ageing demography. One option to address this challenge is to offer selected patients immediate sequential bilateral cataract surgery (ISBCS). This study aims to investigate patient and operative characteristics for ISBCS and delayed bilateral cataract surgery (DSCS) in the UK.

A cross sectional study to determine the prevalence of cough and its impact in patients with lung cancer: a patient unmet need.

Background: There is absence of literature related to cough prevalence and its characteristics in lung cancer patients, with information deriving only from broader symptoms occurrence studies. The aims of this study were to provide a snapshot of the prevalence of all-cause-cough in lung cancer patients and to characterise cough in terms of its impact and severity.

Methods: A cross-sectional study recruiting consecutive lung cancer patients over a pre-defined period of time and using cough-specific validated tools in a tertiary referral centre in the UK, including a cough severity VAS and the Manchester Cough in Lung Cancer scale (MCLCS).

Global and mitosis-specific interobserver variation in mitotic count scoring and implications for malignant melanoma staging.

Aims: Staging is the gold standard for predicting malignant melanoma outcome but changes in its criteria over time indicate ongoing evolution. One notable recent change from the 8th edition of the American Joint Committee on Cancer (AJCC) staging manual was removal of mitotic count. We explore the extent to which this feature is limited by interobserver error in order to find ways to improve its fitness for use should it be revisited in future staging versions.

A Systematic Review of Interventions for Balance Dysfunction in Patients With Vestibular Schwannoma.

Objective: Dizziness is a major contributing factor to poor quality of life for patients with vestibular schwannoma (acoustic neuroma). We wished to review the literature on interventions for balance dysfunction in these patients.

Data Sources: A systematic literature review was performed identifying studies that measured balance function before and after treatment for vestibular schwannoma.

Management of acute and chronic iliofemoral venous outflow obstruction: a multidisciplinary team consensus.

The aim of this manuscript was to establish a consensus for the management of acute and chronic venous obstruction among specialists in the UK. Specialist physicians representing vascular surgery, interventional radiology and hematology were invited to 3 meetings to discuss management of acute and chronic iliofemoral obstruction. The meetings outlined controversial areas, included a topic-by-topic review; and on completion reached a consensus when greater than 80% agreement was reached on each topic.

Calcification Microstructure Reflects Breast Tissue Microenvironment.

Microcalcifications are important diagnostic indicators of disease in breast tissue. Tissue microenvironments differ in many aspects between normal and cancerous cells, notably extracellular pH and glycolytic respiration. Hydroxyapatite microcalcification microstructure is also found to differ between tissue pathologies, including differential ion substitutions and the presence of additional crystallographic phases.

Systematic review of the introduction and evaluation of magnetic augmentation of the lower oesophageal sphincter for gastro-oesophageal reflux disease.

Background: Magnetic sphincter augmentation (MSA) is reported to be an innovative alternative to antireflux surgery for patients with gastro-oesophageal reflux disease. Although used in practice, little is known about how it has been evaluated. This study aimed to systematically summarize and appraise the reporting of MSA and its introduction into clinical practice, in the context of guidelines (such as IDEAL) for evaluating innovative surgical devices.

Colonoscopy Direct Observation of Procedural Skills Assessment Tool for Evaluating Competency Development During Training.

Introduction: Formative colonoscopy direct observation of procedural skills (DOPS) assessments were updated in 2016 and incorporated into UK training but lack validity evidence. We aimed to appraise the validity of DOPS assessments, benchmark performance, and evaluate competency development during training in diagnostic colonoscopy.

Methods: This prospective national study identified colonoscopy DOPS submitted over an 18-month period to the UK training e-portfolio.

Variation in post-colonoscopy colorectal cancer across colonoscopy providers in English National Health Service: population based cohort study.

Objectives: To quantify post-colonoscopy colorectal cancer (PCCRC) rates in England by using recent World Endoscopy Organisation guidelines, compare incidence among colonoscopy providers, and explore associated factors that could benefit from quality improvement initiatives.

Design: Population based cohort study.

Setting: National Health Service in England between 2005 and 2013.

Evidence-Based Guideline on Laparoscopy in Pregnancy: Commissioned by the British Society for Gynaecological Endoscopy (BSGE) Endorsed by the Royal College of Obstetricians & Gynaecologists (RCOG).

Laparoscopy is widely utilised to diagnose and treat acute and chronic, gynaecological and general surgical conditions. It has only been in recent years that laparoscopy has become an acceptable surgical alternative to open surgery in pregnancy. To date there is little clinical guidance pertaining to laparoscopic surgery in pregnancy.

Translating evidence into practice: recommendations by a UK expert panel on the use of aflibercept in diabetic macular oedema.

Objectives: This paper describes recommendations from a panel of UK retina experts on aflibercept in diabetic macular oedema (DMO).

Methods: A roundtable meeting was held in London, UK in March 2018. The meeting was sponsored by Bayer.

A feasibility trial of Acetic acid-targeted Biopsies versus nontargeted quadrantic biopsies during BArrett's surveillance: the ABBA trial.

Background: The aims of this study were to compare neoplasia detection rates for nontargeted biopsies (Seattle protocol) versus acetic acid-targeted biopsies (Portsmouth protocol) during Barrett's surveillance and to explore feasibility, patient/clinician experience, acceptance, and barriers/enablers to study participation and implementation of the acetic acid technique.

Methods: This was a mixed-methods feasibility study including a pilot multicenter, randomized, crossover trial with qualitative interviews. Patients under Barrett's surveillance with no history of neoplasia were included.

Perioperative fasting: A review.

Preprocedural/preoperative fasting is a key part of preparing a patient for undergoing sedation or anaesthesia to minimise the risk of pulmonary aspiration of gastric contents. As part of caring for elective surgical patients it is important that healthcare staff in the perioperative environment have a good understanding of both the current guidelines and underpinning evidence so that they can effectively manage preoperative patients. This article looks to summarise the latest guidelines regarding perioperative fasting for adult and paediatric patients, the underlying evidence behind these guidelines and finally review current literature which will inform future practice.

Ophthalmic simulated surgical competency assessment rubric (Sim-OSSCAR) for trabeculectomy.

Background/aims: To develop, test and determine whether a surgical-competency assessment tool for simulated glaucoma surgery is valid.

Methods: The trabeculectomy ophthalmic simulated surgical competency assessment rubric (Sim-OSSCAR) was assessed for face and content validity with a large international group of expert eye surgeons. Cohorts of novice and competent surgeons were invited to perform anonymised simulation trabeculectomy surgery, which was marked using the Sim-OSSCAR in a masked fashion by a panel of four expert surgeons.

Dynamic Banding (DYBAND) Technique for Symptomatic High-Flow Fistulae.

Introduction: High flow rates may develop in arteriovenous fistula (AVF), resulting in clinical syndromes of steal, aneurysmal fistula, or high-output cardiac failure. Various techniques with varying success have been advocated to treat this difficult problem. We present a hemodynamically validated novel banding technique.