Numbness on the Medical Take: An Atypical Presentation of Guillain-Barre Syndrome With Unilateral Paraesthesia and Rapid Progression to Bulbar Palsy: A Case Report.

Guillain-Barré syndrome (GBS) is characterized classically by progressive and symmetrical motor weakness and areflexia. We describe a case of GBS with initially preserved reflexes and power, leading to delayed diagnosis, who latterly required urgent ventilator support and plasmapharesis to highlight the importance of considering atypical presentations of this common condition.

A retrospective database analysis of pediatric parathyroidectomies from the United Kingdom registry of endocrine and Thyroid Surgeons.

Introduction: The United Kingdom Registry of Endocrine and Thyroid Surgery (UKRETS) holds the largest database of pediatric parathyroidectomy cases globally. There are currently no quoted acceptable cure or complication rates in the literature.

Methods: This retrospective database analysis evaluates the efficacy and safety of targeted parathyroidectomy (tPTx) and bilateral neck exploration (BNE) in first-time parathyroidectomy for pediatric primary hyperparathyroidism (PHPT) through analysis of the UKRETS database (1995-2022).

Qualitative study exploring the experiences of sexual dysfunction in premenopausal women with type 1 diabetes.

Aims: To explore the sexual experiences and interactions of women with type 1 diabetes to explicate an understanding of the impact of diabetes on women's sexual function. The study was conducted as part of a wider project to develop a patient-reported outcome measure to assess sexual dysfunction (SD) in premenopausal women with type 1 diabetes.

Methods: A qualitative study using face-to-face and virtual semi-structured interviews was conducted with premenopausal women with type 1 diabetes who have had some difficulties related to sexual functioning.

Outcomes with single-agent gilteritinib for relapsed or refractory FLT3-mutant AML after contemporary induction therapy.

Gilteritinib is the current standard of care for relapsed or refractory fms related receptor tyrosine kinase 3 (FLT3)-mutated acute myeloid leukemia in many countries, however outcomes for patients relapsing after contemporary first-line therapies (intensive chemotherapy with midostaurin, or nonintensive chemotherapy with venetoclax) are uncertain. Moreover, reported data on toxicity and health care resource use is limited. Here, we describe a large real-world cohort of 152 patients receiving single-agent gilteritinib in 38 UK hospitals.

Long term outcome in non-multiple sclerosis paediatric acquired demyelinating syndromes.

Objectives: We aimed to study the risks of relapse and long term disability in children with non-MS acquired demyelinating syndromes (ADS).

Methods: In this prospective, multi-centre study, from the 14 UK pediatric neurology centres, children (<16 years) experiencing a first episode of ADS were recruited from 2010 to 2014. Case report forms were collected prospectively.

Immunotherapy in the Context of Aortic Valve Diseases.

Purpose: Aortic valve disease (AVD) affects millions of people around the world, with no pharmacological intervention available. Widely considered a multi-faceted disease comprising both regurgitative pathogenesis, in which retrograde blood flows back through to the left ventricle, and aortic valve stenosis, which is characterized by the thickening, fibrosis, and subsequent mineralization of the aortic valve leaflets, limiting the anterograde flow through the valve, surgical intervention is still the main treatment, which incurs considerable risk to the patient.

Results: Though originally thought of as a passive degeneration of the valve or a congenital malformation that has occurred before birth, the paradigm of AVD is shifting, and research into the inflammatory drivers of valve disease as a potential mechanism to modulate the pathobiology of this life-limiting pathology is taking center stage.

Altered Inflammatory State and Mitochondrial Function Identified by Transcriptomics in Paediatric Congenital Heart Patients Prior to Surgical Repair.

Congenital heart disease (CHD) remains the most common birth defect, with surgical intervention required in complex cases. Right ventricle (RV) function is known to be a major predictor of sustained cardiac health in these patients; thus, by elucidating the divergent profiles between CHD and the control through tissue analysis, this study aims to identify new avenues of investigation into the mechanisms surrounding reduced RV function. Transcriptomic profiling, in-silico deconvolution and functional network analysis were conducted on RV biopsies, identifying an increase in the mitochondrial dysfunction genes and (padj = 4.

Genetic landscape of atopic dermatitis.

Purpose Of Review: This review summarizes recent advances in identifying genetic risk factors for atopic dermatitis and how these genetic associations are being used to explore the causal relationships between atopic dermatitis and potential risk factors and downstream outcomes.

Recent Findings: A recent large-scale GWAS meta-analysis has identified 91 genetic loci associated with atopic dermatitis. Rare variant studies have also identified new gain-of-function or loss-of-function variants implicated in atopic dermatitis, particularly for FLG and STAT6/JAK1 .

Brexucabtagene autoleucel for relapsed or refractory mantle cell lymphoma in the United Kingdom: A real-world intention-to-treat analysis.

Brexucabtagene autoleucel (brexu-cel) is an autologous CD19 CAR T-cell product, approved for relapsed/refractory (r/r) mantle cell lymphoma (MCL). In ZUMA-2, brexu-cel demonstrated impressive responses in patients failing ≥2 lines, including a bruton's tyrosine kinase inhibitor, with an overall and complete response rate of 93% and 67%, respectively. Here, we report our real-world intention-to-treat (ITT) outcomes for brexu-cel in consecutive, prospectively approved patients, from 12 institutions in the United Kingdom between February 2021 and June 2023, with a focus on feasibility, efficacy, and tolerability.

Acute hepatitis B in a hepatitis B vaccine non-responder.

Developing acute hepatitis B in immunocompetent non-responders to hepatitis B vaccination has been rarely reported. We report such a case in a 79 year old heterosexual male. There is evidence that tenofovir disoproxil/emtricitabine as primary prophylaxis can prevent acquisition of hepatitis B.

Adjuvant Radiotherapy for Groin Node Metastases Following Surgery for Vulvar Cancer: A Systematic Review.

Lymph node metastasis in vulvar cancer is a critical prognostic factor associated with higher recurrence and decreased survival. A survival benefit is reported with adjuvant radiotherapy but with potential significant morbidity. We aim to clarify whether there is high-quality evidence to support the use of adjuvant radiotherapy in this setting.

The effect of different alignment strategies on trochlear orientation after total knee arthroplasty.

Purpose: When planning and delivering total knee arthroplasty (TKA), there are multiple coronal alignment strategies such as functional alignment (FA), kinematic alignment (KA), mechanical and adjusted mechanical alignment (MA, aMA). Recent three-dimensional and robotic-assisted surgery (RAS) studies have demonstrated that KA potentially better restores the trochlear anatomy than MA. The purpose of this study was to compare the restoration of the native trochlear orientation in patients undergoing RAS TKA using four different alignment strategies.

Sertoli-Leydig tumor and DICER1 gene mutation: A case series and literature review.

Objective: Sertoli-Leydig cell tumors (SLCTs) are rare neoplasms occurring in young women with 60% associated with DICER1 mutations. This is only the second published case series of patients with SLCTs with associated DICER1 gene alterations. DICER1 syndrome is a rare inherited tumor-susceptibility syndrome affecting organs such as the ovaries.

The European Respiratory Society led training programme improves self-reported competency and increases the use of thoracic ultrasound.

Thoracic ultrasound has become a well-implemented diagnostic tool for assessment and monitoring of patients with respiratory symptoms or disease. However, ultrasound examinations are user dependent and sufficient competencies are needed. The European Respiratory Society (ERS) hosts a structured and evidence-based training programme in thoracic ultrasound.

Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.

Background: Real-world data on the efficacy and safety of onasemnogene abeparvovec (OA) in spinal muscular atrophy (SMA) are needed, especially to overcome uncertainties around its use in older and heavier children. This study evaluated the efficacy and safety of OA in patients with SMA type 1 in the UK, including patients ≥2 years old and weighing ≥13.5 kg.

The Impact of UK Medical Students' Demographics and Socioeconomic Factors on Their Self-Reported Familiarity With the Postgraduate Training Pathways and Application Process: Cross-Sectional Study.

Background: UK medical graduates can apply for specialty training after completing a 2-year internship (foundation training). Postfoundation training application requirements vary depending on specialty but fundamentally require key skills such as teaching, research, and leadership.

Objective: This study investigated whether medical student demographics impact their self-reported familiarity with the Post-Foundation Training Pathways (PFTPs) and Post-Foundation Application Process (PFAP).

A quantitative evaluation of aerosol generation during cardiopulmonary resuscitation.

It is unclear if cardiopulmonary resuscitation is an aerosol-generating procedure and whether this poses a risk of airborne disease transmission to healthcare workers and bystanders. Use of airborne transmission precautions during cardiopulmonary resuscitation may confer rescuer protection but risks patient harm due to delays in commencing treatment. To quantify the risk of respiratory aerosol generation during cardiopulmonary resuscitation in humans, we conducted an aerosol monitoring study during out-of-hospital cardiac arrests.

Ultradian hydrocortisone replacement alters neuronal processing, emotional ambiguity, affect and fatigue in adrenal insufficiency: The PULSES trial.

Background: Primary adrenal insufficiency (PAI) mortality and morbidity remain unacceptably high, possibly arising as glucocorticoid replacement does not replicate natural physiology. A pulsatile subcutaneous pump can closely replicate cortisol's circadian and ultradian rhythm.

Objectives: To assess the effect of pump therapy on quality of life, mood, functional neuroimaging, behavioural/cognitive responses, sleep and metabolism.