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.

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.

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.

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.

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).

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%).

Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA).

Background: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is a rare clinical syndrome of unknown cause usually identified in children. Tonsillectomy is considered a potential treatment option for this syndrome. This is an update of a Cochrane Review first published in 2010 and previously updated in 2014.

Trends in kidney function testing in UK primary care since the introduction of the quality and outcomes framework: a retrospective cohort study using CPRD.

Objectives: To characterise serum creatinine and urinary protein testing in UK general practices from 2005 to 2013 and to examine how the frequency of testing varies across demographic factors, with the presence of chronic conditions and with the prescribing of drugs for which kidney function monitoring is recommended.

Design: Retrospective open cohort study.

Setting: Routinely collected data from 630 UK general practices contributing to the Clinical Practice Research Datalink.

Fifteen-minute consultation: Prevention and treatment of chickenpox in newborns.

There are inconsistencies in how newborns are managed following exposure to varicella, ranging from reassurance and observation to administration of varicella zoster immunoglobulin (VZIG) and admission to hospital for varying length courses of intravenous aciclovir.Hospitalised preterm babies exposed to varicella should receive VZIG. Administration can otherwise be limited to pregnant non-immune women or to newborns if there is development of maternal chickenpox from 5 days prior to delivery up to 48 hours postdelivery.

Among young Sri Lankan patients with diabetes, how do lipid profiles differ between those with and without metabolic syndrome?

Aims: Metabolic syndrome (MetS) is a risk factor for cardiovascular disease (CVD). Apolipoproteins are emerging as powerful predictors of CVD. We aimed to study associations of metabolic syndrome and apoB, apoAI, apoB/AI ratio in young Sri Lankans with type 2 diabetes.

Frequent Monitoring of C-Peptide Levels in Newly Diagnosed Type 1 Subjects Using Dried Blood Spots Collected at Home.

Objective: To evaluate an approach to measure β-cell function by frequent testing of C-peptide concentrations in dried blood spots (DBSs).

Patients: Thirty-two children, aged 7 to 17 years, with a recent diagnosis of type 1 diabetes.

Design: Mixed-meal tolerance test (MMTT) within 6 and again at 12 months after diagnosis, with paired venous and DBS C-peptide sampling at 0 and 90 minutes.

Worse Health-Related Quality of Life at long-term follow-up in patients with Cushing's disease than patients with cortisol producing adenoma. Data from the ERCUSYN.

Objective: Hypercortisolism in Cushing's syndrome (CS) is associated with impaired health-related quality of life (HRQoL), which may persist despite remission. We used the data entered into the European Registry on Cushing's syndrome (ERCUSYN) to evaluate if patients with CS of pituitary origin (PIT-CS) have worse HRQoL, both before and after treatment than patients with adrenal causes (ADR-CS).

Methods: Data from 595 patients (492 women; 83%) who completed the CushingQoL and/or EQ-5D questionnaires at baseline and/or following treatment were analysed.

Modelling human skull growth: a validated computational model.

During the first year of life, the brain grows rapidly and the neurocranium increases to about 65% of its adult size. Our understanding of the relationship between the biomechanical forces, especially from the growing brain, the craniofacial soft tissue structures and the individual bone plates of the skull vault is still limited. This basic knowledge could help in the future planning of craniofacial surgical operations.

Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study.

Background: Precision cancer medicine depends on defining distinct tumour subgroups using biomarkers that may occur at very modest frequencies. One such subgroup comprises patients with exceptionally mutated (ultramutated) cancers caused by mutations that impair DNA polymerase epsilon (POLE) proofreading.

Methods: We examined the association of POLE proofreading domain mutation with clinicopathological variables and immune response in colorectal cancers from clinical trials (VICTOR, QUASAR2, and PETACC-3) and colorectal cancer cohorts (Leiden University Medical Centre 1 and 2, Oslo 1 and 2, Bern, AMC-AJCC-II, and Epicolon-1).

Observational study of the development and evaluation of a fertility preservation patient decision aid for teenage and adult women diagnosed with cancer: the Cancer, Fertility and Me research protocol.

Introduction: Women diagnosed with cancer and facing potentially sterilising cancer treatment have to make time-pressured decisions regarding fertility preservation with specialist fertility services while undergoing treatment of their cancer with oncology services. Oncologists identify a need for resources enabling them to support women's fertility preservation decisions more effectively; women report wanting more specialist information to make these decisions. The overall aim of the 'Cancer, Fertility and Me' study is to develop and evaluate a new evidence-based patient decision aid (PtDA) for women with any cancer considering fertility preservation to address this unmet need.

Chronic pain disrupts the reward circuitry in multiple sclerosis.

Pain commonly affects multiple sclerosis (MS) patients, and has the potential to become chronic and burden an already damaged central nervous system. Imaging studies are providing insights into brain restructuring associated with chronic pain and different chronic pain conditions seem to evoke distinct plasticity patterns. Our objective was to study the structural and functional brain changes of chronic neuropathic pain of MS.

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

Kabuki syndrome is a heterogeneous condition characterized by distinctive facial features, intellectual disability, growth retardation, skeletal abnormalities and a range of organ malformations. Although at least two major causative genes have been identified, these do not explain all cases. Here we describe a patient with a complex Kabuki-like syndrome that included nodular heterotopia, in whom testing for several single-gene disorders had proved negative.