The incidence of postoperative periprosthetic femoral fracture following total hip replacement: An analysis of UK National Joint Registry and Hospital Episodes statistics data.

Background: Postoperative periprosthetic femoral fracture (POPFF) after total hip replacement (THR) requires complex surgery and is associated with a high morbidity, mortality, and cost. Although the United Kingdom based National Joint Registry (NJR) captures over 95% of THRs treated with revision, before June 2023 it did not capture POPFF treated with fixation. We aimed to estimate the incidence and epidemiology of POPFF treated with either surgery in England.

The impact of the massive open online course C19_SPACE during the COVID-19 pandemic on clinical knowledge enhancement: a study among medical doctors and nurses.

Purpose: During the initial phase of the pandemic, healthcare professionals faced difficulties due to the limited availability of comprehensive learning resources on managing patients affected with coronavirus disease 2019 (COVID-19). The COVID-19 Skills Preparation Course (C19_SPACE) was tailored to meet the overwhelming demand for specialized training. The primary objective of this study was to assess the efficacy and impact of this program on enhancing clinical knowledge and to identify factors affecting this improvement.

Has the energy poverty crisis fuelled a rise in hot water bottle burn injuries within the United Kingdom?

Introduction: There are an estimated 10 million hot water bottles (HWB) currently in use within the United Kingdom (UK), and HWB related burn injuries represent a significant resource burden to UK Burns Services. These injuries can be caused through a variety of mechanisms including scalds sustained when filling the bottle or scalds from leaking or rupture. The fuel poverty crisis started in February 2022 leading to an estimated six-fold increase in alternative sources of heating, in particular hot water bottles.

Comparison of Reporting Quality in National Cystic Fibrosis Patient Registries: Implications for Identifying Use of Novel CFTR Modulators.

Introduction: Advances in development of cystic fibrosis transmembrane conductance regulator modulator (CFTRm) therapies mean that now people who are heterozygous (instead of having to be homozygous) for the common F508del variant can benefit from these therapies. Recent economic estimates suggest only approximately 15% of the global population have CFTRm access, yet it is unknown how prevalence of F508del and economic factors may affect this availability.

Methods: Data related to prevalence of cystic fibrosis (CF), CFTRm usage, and prevalence of F508del in 10 countries were extracted from publicly accessible registry reports from 2021.

Long-Term Outcomes of Allergic Bronchopulmonary Aspergillosis and Colonization in Children and Adolescents with Cystic Fibrosis.

Observational studies indicate that colonization and allergic bronchopulmonary aspergillosis (ABPA) in people with cystic fibrosis (CF) are associated with poorer lung health and increased disease severity. We performed a longitudinal observational cohort study to analyse long-term outcomes of colonization and ABPA in children with CF. Anonymised UK CF Registry data from 2009 to 2019 for patients aged 8-17 years in 2009-2010 were collected.

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Purpose: Biallelic INPP4A variants have recently been associated with severe neurodevelopmental disease in single case reports. Here, we expand and elucidate the clinical-genetic spectrum and provide a pathomechanistic explanation for genotype-phenotype correlations.

Methods: Clinical and genomic investigations of 30 individuals were undertaken alongside molecular and in silico modelling and translation reinitiation studies.

'I Live With Lynch. Cancer Worry Ebbs Into the Background, Then Something Brings It to the Fore.' A Qualitative Interview Study Exploring How Lynch Syndrome Carriers Make Sense of Their Cancer Risks and Implications to Support Decision Making.

Background: Lynch syndrome carriers ('carriers') are presented with complex, emotionally laden choices regarding management of increased genetic cancer risks. Decision aids encourage active involvement in values-based health decisions. This paper aimed to address the research question: How do Lynch syndrome carriers make sense of their chances of developing cancer, and what are the implications for providing support with decision making about genetic cancer risk management?

Methods: Adult carriers were recruited through a genetics service or involvement with Lynch Syndrome UK.

Evaluating the effectiveness of simvastatin in slowing the progression of disability in secondary progressive multiple sclerosis (MS-STAT2): protocol for a multicentre, randomised controlled, double-blind, phase 3 clinical trial in the UK.

Introduction: There remains a high unmet need for disease-modifying therapies that can impact disability progression in secondary progressive multiple sclerosis (SPMS). Following positive results of the phase 2 MS-STAT study, the MS-STAT2 phase 3 trial will evaluate the efficacy and cost-effectiveness of repurposed high-dose simvastatin in slowing the progression of disability in SPMS.

Methods And Analysis: MS-STAT2 will be a multicentre, randomised, placebo-controlled, double-blind trial of participants aged between 25 and 65 (inclusive) who have SPMS with an Expanded Disability Status Scale (EDSS) score of 4.

Aortic reservoir-excess pressure parameters are associated with worse cognitive function in people with untreated stage II/III hypertension.

Objective: Hypertension is a recognized risk factor for the development of cognitive impairment and dementia in older adults. Aortic stiffness and altered haemodynamics could promote the transmission of detrimental high pressure pulsatility into the cerebral circulation, potentially damaging brain microvasculature and leading to cognitive impairment. We determined whether reservoir-excess pressure parameters were associated with cognitive function in people with hypertension (HT) and normotension (NT).

Development of a core descriptor set for parastomal hernia repair.

Aim: Parastomal hernia repair is a poorly evidenced area, with uncertainty around the optimum management. There is considerable heterogeneity within the patient cohort, and currently there is no standardization of patient descriptors in the reporting of parastomal hernia repair. The aim of this study was to develop a core descriptor set of key patient characteristics for patients undergoing surgical repair of a parastomal hernia for reporting in all parastomal hernia research.

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.

Background: The 2015 American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) variant classification framework specifies that case-control observations can be scored as 'strong' evidence (PS4) towards pathogenicity.

Methods: We developed the PS4-likelihood ratio calculator (PS4-LRCalc) for quantitative evidence assignment based on the observed variant frequencies in cases and controls. Binomial likelihoods are computed for two models, each defined by prespecified OR thresholds.

British Gynaecological Cancer Society/British Association of Gynaecological Pathology consensus for genetic testing in epithelial ovarian cancer in the United Kingdom.

Standard of care genetic testing has undergone significant changes in recent years. The British Gynecological Cancer Society and the British Association of Gynecological Pathologists (BGCS/BAGP) has re-assembled a multidisciplinary expert consensus group to update the previous guidance with the latest standard of care for germline and tumor testing in patients with ovarian cancer. For the first time, the BGCS/BAGP guideline group has incorporated a patient advisor at the initial consensus group meeting.

Zibotentan in Microvascular Angina: A Randomized, Placebo-Controlled, Crossover Trial.

Background: Microvascular angina is associated with dysregulation of the endothelin system and impairments in myocardial blood flow, exercise capacity, and health-related quality of life. The G allele of the noncoding single nucleotide polymorphism enhances expression of the endothelin-1 gene () in human vascular cells, potentially increasing circulating concentrations of Endothelin-1 (ET-1). Whether zibotentan, an oral receptor selective antagonist, is efficacious and safe for the treatment of microvascular angina is unknown.

A scoping review of stroke services within the Philippines.

Background: Stroke is a leading cause of mortality and disability. In higher-income countries, mortality and disability have been reduced with advances in stroke care and early access to rehabilitation services. However, access to such services and the subsequent impact on stroke outcomes in the Philippines, which is a lower- and middle-income countries (LMIC), is unclear.

Ethnic differences in the manifestation of early-onset type 2 diabetes.

Introduction: We undertook phenotypic characterization of early-onset and late-onset type 2 diabetes (T2D) in adult black African and white European populations with recently diagnosed T2D to explore ethnic differences in the manifestation of early-onset T2D.

Research Design And Methods: Using the Uganda Diabetes Phenotype study cohort of 500 adult Ugandans and the UK StartRight study cohort of 714 white Europeans with recently diagnosed islet autoantibody-negative T2D, we compared the phenotypic characteristics of participants with early-onset T2D (diagnosed at <40 years) and late-onset T2D (diagnosed at ≥40 years).

Results: One hundred and thirty-four adult Ugandans and 113 white Europeans had early-onset T2D.

Outcomes of definite vs probable/presumed cardiac sarcoidosis: a systematic review and meta-analysis.

Background: Diagnosing cardiac sarcoidosis (CS), which can be associated with arrhythmias and heart failure, remains challenging despite multiple advances over time. The 2014 Heart Rhythm Society (HRS) consensus statement recommends an endomyocardial biopsy (EMB) to establish a definite diagnosis of CS. In the absence of a positive EMB, a diagnosis of probable or presumed CS is made on the basis of clinical and imaging criteria.

Virtual reality current use, facilitators and barriers to implementation in paediatric physiotherapy: cross-sectional online survey of UK paediatric physiotherapists.

Background: The literature is scarce about virtual reality (VR) use and its integration into clinical practice. Given the growing interest toward using VR in healthcare in the UK, the aims of this survey were to explore its current use by paediatric physiotherapists in clinical practice in the UK, identify the facilitators and barriers to VR implementation in clinical practice and investigate the factors that will enhance intentions to use it in the future.

Methods: An online survey using Assessing Determinants of Prospective Take-Up of Virtual Reality (ADOPT-VR2) was distributed to UK paediatric physiotherapists through the Association of Paediatric Chartered Physiotherapists.

The Effect of Postoperative Analgesia on the Day-Case Rate of Laparoscopic Cholecystectomy: A Randomised Pilot Study of the Laparoscopic-Assisted Right Subcostal Transversus Abdominis Plane Block plus Local Anaesthetic Wound Infiltration versus Local Anaesthetic Wound Infiltration only.

Objective: The transversus abdominis plane (TAP) block and local anaesthetic infiltration (LAI) of port sites provide adequate analgesia after laparoscopic cholecystectomy (LC). Little is known if the two techniques affect the day-case (DC) rate of LC. We tested the appropriateness of the research design in view of a larger randomised controlled trial (RCT) - laparoscopic-assisted right subcostal TAP block plus local anaesthetic wound infiltration (STALA) versus LAI.

variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways.

Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers and therapeutic targets. Here, we identify as a new gene implicated in PD and childhood neurodegeneration.

Protocol for the Australian Type 1 Diabetes National Screening Pilot: Assessing the feasibility and acceptability of three general population screening models in children.

Aim: One third of Australian children diagnosed with type 1 diabetes present with life-threatening diabetic ketoacidosis (DKA) at diagnosis. Screening for early-stage, presymptomatic type 1 diabetes, with ongoing follow-up, can substantially reduce this risk (<5% risk). Several screening models are being trialled internationally, without consensus on the optimal approach.

Optimizing Oxford Shoulder Scores with computerized adaptive testing reduces redundancy while maintaining precision.

Aims: The Oxford Shoulder Score (OSS) is a 12-item measure commonly used for the assessment of shoulder surgeries. This study explores whether computerized adaptive testing (CAT) provides a shortened, individually tailored questionnaire while maintaining test accuracy.

Methods: A total of 16,238 preoperative OSS were available in the National Joint Registry (NJR) for England, Wales, Northern Ireland, the Isle of Man, and the States of Guernsey dataset (April 2012 to April 2022).