The impact of neoadjuvant therapy in patients with left-sided resectable pancreatic cancer: an international multicenter study.

Purpose: To assess the association between neoadjuvant therapy and overall survival (OS) in patients with left-sided resectable pancreatic cancer (RPC) compared to upfront surgery.

Background: Left-sided pancreatic cancer is associated with worse OS compared to right-sided pancreatic cancer. Although neoadjuvant therapy is currently seen as not effective in patients with RPC, current randomized trials included mostly patients with right-sided RPC.

Sex hormone-binding globulin, testosterone and type 2 diabetes risk in middle-aged African women: exploring the impact of HIV and menopause.

Objectives: Sex hormone-binding globulin (SHBG) and testosterone are differentially associated with type 2 diabetes (T2D) risk. We investigated whether these associations differ by HIV and menopausal status in Black South African women living with (WLWH) and without HIV (WLWOH).

Design: Cross-sectional observational.

State of the art: A roadmap for the national echocardiography team 2023.

Over the past 30 years, echocardiography has carved a vital professional role within the care of millions of patients per year. Here, I examine the provision of this vital service through the lens of the people who provide it, focussing on the challenges and opportunities facing this unique workforce over the next 10 years.

Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre.

Respiratory problems are a major cause of morbidity and mortality in patients with congenital myasthenic syndromes, a rare heterogeneous group of neuromuscular disorders caused by genetic defects impacting the structure and function of the neuromuscular junction. Recurrent, life-threatening episodic apnoea in early infancy and childhood and progressive respiratory failure requiring ventilation are features of certain genotypes of congenital myasthenic syndromes. Robb published empirical guidance on respiratory management of the congenital myasthenic syndromes, but other than this workshop report, there are little published longitudinal natural history data on respiratory outcomes of these disorders.

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic Pathogenic Variants.

Background And Objectives: Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with -related disease.

Cardiac abnormalities in Long COVID 1-year post-SARS-CoV-2 infection.

Background: Long COVID is associated with multiple symptoms and impairment in multiple organs. Cross-sectional studies have reported cardiac impairment to varying degrees by varying methodologies. Using cardiac MR (CMR), we investigated a 12-month trajectory of abnormalities in Long COVID.

Current issues and future considerations for the wider implementation of robotic-assisted surgery: a qualitative study.

Objectives: The effective implementation of a fast-changing healthcare delivery innovation, such as robotic-assisted surgery (RAS), into a healthcare system, can be affected (both positively and negatively) by external contextual factors. As part of a wider project investigating ways to optimise the implementation of RAS, this qualitative study aimed to uncover current issues of RAS and predictions about the future of robotic surgery. We refer to 'current issues' as the topical and salient challenges and opportunities related to the introduction of RAS in the UK healthcare system, from the perspectives of key stakeholders involved in the delivery and implementation of RAS.

Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.

Background: Breast cancer has a significant heritable basis, of which ∼60% remains unexplained. Testing for BRCA1/BRCA2 offers useful discrimination of breast cancer risk within families, and identification of additional breast cancer susceptibility genes could offer clinical utility.

Patients And Methods: We included 2135 invasive breast cancer cases recruited via the Breast and Ovarian Cancer Susceptibility study, a retrospective UK study of familial breast cancer.

CLinical Assessment of WEB device in Ruptured aneurYSms (CLARYS): 12-month angiographic results of a multicenter study.

Background: The CLinical Assessment of WEB device in Ruptured aneurYSms (CLARYS) study has shown that the endovascular treatment of ruptured bifurcation aneurysms with the Woven EndoBridge (WEB) is safe and effective and provides protection against rebleeding at 1 month and 1 year. The 12-month angiographic follow-up is an important endpoint of the study.

Methods: The CLARYS study is a prospective multicenter study conducted in 13 European centers.

Increased risk for type 2 diabetes in relation to adiposity in middle-aged Black South African men compared to women.

Aims: Despite a higher prevalence of overweight/obesity in Black South African women compared to men, the prevalence of type 2 diabetes (T2D) does not differ. We explored if this could be due to sex differences in insulin sensitivity, clearance and/or beta-cell function and also sex-specific associations with total and regional adiposity.

Methods: This cross-sectional study included 804 Black South African men (n = 388) and women (n = 416).

Eleven Cases of Hb J-Paris-I [: c.38C>A (or )]: A Stable α Chain Variant Elutes in the P3 Window on High-Performance Liquid Chromatography.

Hb J-Paris-I [: c.38C>A (or )] is a stable fast-moving hemoglobin (Hb) that elutes in the P3 window on high performance liquid chromatography (HPLC). The mutation can happen on either the α1- or α2-globin gene.

Early predictors of disability of paediatric-onset AQP4-IgG-seropositive neuromyelitis optica spectrum disorders.

Objective: To describe onset clinical features predicting time to first relapse and time to long-term visual, motor and cognitive disabilities in paediatric-onset aquaporin-4 antibody (AQP4-IgG) neuromyelitis optica spectrum disorders (NMOSDs).

Methods: In this retrospective UK multicentre cohort study, we recorded clinical data of paediatric-onset AQP4-IgG NMOSD. Univariate and exploratory multivariable Cox proportional hazard models were used to identify long-term predictors of permanent visual disability, Expanded Disability Status Scale (EDSS) score of 4 and cognitive impairment.

Eight Cases of Hb Winnipeg [: c.226G>T (or )]: A Detailed Study.

Hb Winnipeg [α75(EF4)Asp→Tyr (α2); : c.226G>T (or )] is a stable α-globin chain variant described in a few articles. The majority of reported cases in older articles were clustered in Canada.

CLinical Assessment of WEB device in Ruptured aneurYSms (CLARYS): results of 1-month and 1-year assessment of rebleeding protection and clinical safety in a multicenter study.

Background: The primary goal of the CLARYS study is to assess the protection against rebleeding when treating ruptured bifurcation aneurysms with the Woven EndoBridge (WEB) device.

Methods: The CLARYS study is a prospective, multicenter study conducted in 13 European centers. Patients with ruptured bifurcation aneurysms were consecutively included between February 2016 and September 2017.

The Unforeseen Diagnosis: Hyperparathyroidism-Jaw Tumour Syndrome Case Report and Review of the Literature.

Hypercalcaemia and its systemic sequelae are a relatively common finding amongst patients in the field of endocrinology. Primary hyperparathyroidism, a frequent cause of hypercalcaemia, is often seen among middle-aged female patients, typically resulting from an underlying single-gland adenoma. Although patients may present with symptoms (nephrolithiasis, musculoskeletal discomfort, dehydration, or mood disturbance, to name a few), hypercalcaemia is rather frequently identified incidentally.

Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.

KCNT2 variants resulting in substitutions affecting the Arg190 residue have been shown to cause epileptic encephalopathy and a recognizable facial gestalt. We report two additional individuals with intellectual disability, dysmorphic features, hypertrichosis, macrocephaly and the same de novo KCNT2 missense variants affecting the Arg190 residue as previously described. Notably, neither patient has epilepsy.

Hydration and glycogen affect T relaxation times of liver tissue.

T mapping is a useful tool for the assessment of patients with nonalcoholic fatty liver disease but still suffers from a large unexplained variance in healthy subjects. This study aims to characterize the potential effects of liver glycogen concentration and body hydration status on liver shortened modified Look-Locker inversion recovery (shMOLLI) T measurements. Eleven glycogen phantoms and 12 healthy volunteers (mean age: 31 years, three females) were scanned at 3 T using inversion recovery spin echo, multiple contrast spin echo (in phantoms), shMOLLI T mapping, multiple-echo spoiled gradient recalled echo and C spectroscopy (in healthy volunteers).

Twelve Cases of Hb Manitoba [α102(G9)Ser→Arg]: the Fluctuation in the Variant Expression.

Hb Manitoba [α102(G9)Ser→Arg] is a rare α chain variant with diverse ethnic origins. It is mildly unstable with an expression of around 10.0-14.

Fifteen Cases of Hb J-Meerut: The Rare Association with Hb E and/or : c.-24C>G (or ) Variants.

Hb J-Meerut [: c.362C>A (or )] is a rare, stable, nonpathogenic α-globin gene variant that peaks in the area between the P3 and A windows on high performance liquid chromatography (HPLC). Few cases from different ethnic origins have been published but the majority were Asian Indians.

A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.

Over many years, cases of suspected α-globin chain variants were collected from different parts of the UK. The suspicion was based on the clinical picture, high performance liquid chromatography (HPLC) variant percentage, retention time (RT) and isoelectric focusing (IEF). DNA sequencing and the restriction enzyme EI were used for definitive diagnosis.

Paediatric myasthenia gravis: Prognostic factors for drug free remission.

Our aim was to identify clinical outcomes, serological features and possible prognostic indicators of paediatric myasthenia gravis (MG). We collected 74 MG patients with disease onset before the age of 16 years (73% pre-pubertal onset defined as ≤10 years), seen regularly at two UK specialist centres, over a period of 11 years. The cohort was multi-ethnic, with a high number of non-Caucasians (52%).