Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Purpose: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity.

Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.

Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this.

Indication and Technical Consideration for Nerve Blocks and Neurolysis for Pain Control.

Pain management in interventional radiology (IR) encompasses a variety of advanced image-guided techniques to deliver minimally invasive treatments for various pain conditions. Key procedures include nerve blocks and neurolysis, which target specific nerves to provide substantial pain relief. Effective pain management in IR relies on a thorough understanding of regional anatomy, precise technique, and careful administration of local anesthetics, neurolytic agents, and corticosteroids.

Exploring links between oral health and infective endocarditis.

Infective endocarditis (IE) is a bacterial infection of the heart's inner lining. A low incidence rate combined with a high mortality rate mean that IE can be difficult to treat effectively. There is currently substantial evidence supporting a link between oral health and IE with the oral microbiome impacting various aspects of IE, including pathogenesis, diagnosis, treatment, and mortality rates.

Trends in the Management and Outcomes of Neuroendocrine Liver Metastases: A Three-decade, Multi-centre Observational Cohort Study.

Objective: To describe the evolution of management strategies for neuroendocrine liver metastases (NE LM) and trends in patient outcomes over the preceding 3 decades.

Summary Background Data: Liver metastases are common in neuroendocrine neoplasms and impair prognosis. A broad therapeutic armamentarium has evolved over recent decades but there remains uncertainty regarding optimal treatment selection and sequencing.

Diverse phenotypes, consistent treatment: a study of 30,997 South Asian and White IBD patients using the UK IBD BioResource.

Objective: To evaluate South Asian (SA) and White (WH) inflammatory bowel disease (IBD) phenotypes, and to explore treatment approach variations between these cohorts in the UK using the IBD BioResource database.

Design: Differences between WH and SA IBD patients were analysed using demographic, phenotypic and outcome data. Drug utilisation patterns and surgical outcomes were assessed in propensity score-matched (PSM) cohorts with multivariable logistic regression, Cox regression and Kaplan-Meier analysis.

Locally Delivered Antibiotics in Fracture-Related Infection.

The prevention and treatment of fracture-related infections (FRIs) pose significant challenges in orthopaedic trauma care, with current practices predominantly relying on systemic antibiotic administration. However, locally delivered antibiotics achieve substantially higher tissue concentrations and minimise systemic side effects. Whilst extensively researched in periprosthetic joint infections (PJIs), the use of local delivery methods is increasingly prevalent in FRI prevention and treatment.

The intersection of sickle cell disease, stigma, and pain in Africa.

Sickle cell disease (SCD) is a significant public health concern in sub-Saharan Africa, where it is the most prevalent genetic disorder, presenting numerous health care and sociocultural challenges. A case study of a young girl from Ghana's Ashanti region illustrates the stigma surrounding SCD, driven by traditional beliefs and misconceptions that perceive SCD as a spiritual affliction. This stigma results in social ostracism and discrimination, impacting affected individuals and their families.

The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series.

Dermatosparaxis Ehlers Danlos syndrome (dEDS) is a very rare monogenic EDS that occurs due to biallelic pathogenic variants in ADAMTS2. Fifteen individuals with dEDS have been reported in the literature, with the oldest being 19 years at follow-up. Given the lack of information regarding adults with dEDS, our aim was to describe adults with dEDS to inform management recommendations in adulthood.

Outcomes of Cardio-Cerebral Infarction Patients: A Single-Centre Retrospective Study.

Background Cardio-cerebral infarction (CCI) belongs to an area of growing interest within cerebrovascular medicine as it refers to the concurrence of acute ischaemic stroke (AIS) and acute myocardial infarction (AMI) usually within 72 hours. A scenario where both the heart and brain sustain a catastrophic ischaemic insult can be devastating. We describe the incidence, treatment, and outcomes of CCI patients from a North London Hyper-Acute Stroke Unit (HASU) over two years and propose a potential treatment algorithm for the treatment of CCI.

Bone-independent extramedullary disease is associated with inferior overall survival in multiple myeloma patients: a single center, real-world experience.

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The impact of closed-loop automated insulin delivery systems on hypoglycaemia awareness in people living with type 1 diabetes: A systematic review and meta-analysis.

Objectives: Impaired awareness of hyperglycaemia (IAH) affects approximately 20-40% of people living with type 1 diabetes (T1D), predisposing them to severe hypoglycaemia. This systematic review evaluated the efficacy of closed-loop automated insulin delivery systems (CL-AID) in restoring IAH compared with standard diabetes care, including other diabetes technologies.

Methods: Six electronic databases were searched for published and unpublished observational and randomised-control studies (RCTs) from inception to 29th of May 2024.

Pleomorphic Giant Cell Carcinoma and Periurethral Abscess: A Case Report.

Prostate cancer (PCa) is the most common solid malignancy in men in the UK. Pleomorphic giant cell carcinoma (PGCC) is a rare, aggressive variant of prostate adenocarcinoma. PGCC is associated with a poor prognosis and high Gleason-grade characteristics, often occurring in patients with a history of PCa treatment.

Longitudinal Goal Attainment With Repeat Injections of AbobotulinumtoxinA in Adults With Lower Limb Spasticity: Results From a Prospective Observational Study.

Objective: To assess longitudinal goal attainment with repeat abobotulinumtoxinA (AboBoNT-A) injections for lower limb spasticity (LLS) over 16 months.

Design: Prospective, longitudinal, international, multicenter, observational study (NCT04050527).

Setting: Specialist neurorehabilitation centers.

Discrepancy Rates in Acute Abdominal CT: An Audit of In-House and Remote Reporting Compared to Intraoperative Laparoscopic and Laparotomy Findings.

Introduction: Non-traumatic abdominal pain is a common emergency presentation frequently managed by general surgeons. Abdominopelvic computed tomography (CT) scans are the most popular imaging modality in this context. In many hospitals, the rising demand for urgent and emergent scans out-of-hours has necessitated the outsourcing of this service to teleradiology companies, whereby reports are generated at sites remote from the image acquisition.

Long-Term outcomes after stress echocardiography in real world practice: five-year follow-up of the UK Evarest study.

Aims: Stress echocardiography is widely used to assess patients with chest pain. The clinical value of a positive or negative test result to inform on likely longer-term outcomes when applied in real world practice across a healthcare system has not been previously reported.

Methods And Results: 5503 patients recruited across 32 UK NHS hospitals between 2018 and 2022, participating in the EVAREST/BSE-NSTEP prospective cohort study, with data on medical outcomes up to 2023 available from NHS England were included in analysis.

Employing innovation to enhance the safety and reliability of restorative surgical techniques for patients with familial adenomatous polyposis at a national referral centre.

Introduction: Restorative proctocolectomy (RPC) and total colectomy with ileorectal anastomosis (TC-IRA) are traditional surgical options for individuals with familial adenomatous polyposis (FAP). Re-appraisal and modification to these techniques, such as near-total colectomy with ileo-distal sigmoid anastomosis (NT-IDSA) and RPC with robotic intracorporeal single-stapled anastomosis (RPC-RiSSA), have been implemented in recent years. This study aimed to evaluate the early postoperative outcomes associated with novel techniques employed in a single centre for restorative surgery in patients with FAP.

Proposing a curriculum framework for refugee and migrant health for UK medical students.

Introduction: Migration to the UK continues to rise. Refugee and migrant health needs are complex and multifaceted, and UK medical schools do not equip trainees to care confidently for this population.

Methods: A systematic literature review was performed to design a curriculum, which includes core themes, learning objectives, and proposed teaching methods.

Redeployment experiences of healthcare workers in the UK during COVID-19: a cross-sectional analysis from the nationwide UK-REACH study.

Objectives: To assess how ethnicity, migration status and occupation are associated with healthcare workers (HCW) redeployment experiences during COVID-19 in a nationwide ethnically diverse sample.

Design: A cross-sectional analysis using data from the nationwide United Kingdom Research Study into Ethnicity And COVID-19 outcomes in Healthcare workers (UK-REACH) cohort study.

Setting: Healthcare settings.

Evaluating the Effectiveness of an Online Targeted Education Programme on Vascular Surgery Aimed at Early Postgraduate Doctors.

Introduction Mind The Bleep (MTB) is a junior doctor-led online education organisation that produces free open-access medical education (FOAMed) resources. This paper describes MTB vascular surgery online education programme. The target audience was early postgraduate doctors completing a rotation in vascular surgery.