Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project.

Congenital heart disease (CHD) describes a structural cardiac defect present from birth. A cohort of participants recruited to the 100,000 Genomes Project (100 kGP) with syndromic CHD (286 probands) and familial CHD (262 probands) were identified. "Tiering" following genome sequencing data analysis prioritised variants in gene panels linked to participant phenotype.

Computational fluid dynamics and shape analysis enhance aneurysm rupture risk stratification.

Purpose: Accurately quantifying the rupture risk of unruptured intracranial aneurysms (UIAs) is crucial for guiding treatment decisions and remains an unmet clinical challenge. Computational Flow Dynamics and morphological measurements have been shown to differ between ruptured and unruptured aneurysms. It is not clear if these provide any additional information above routinely available clinical observations or not.

Research biopsies in kidney transplantation: an evaluation of surgical techniques and optimal tissue mass allowing molecular and histological analyses.

Background: Research biopsies have great potential to advance scientific knowledge by helping to establish predictors of favourable or unfavourable outcomes in kidney transplantation. We evaluated punch and core biopsies of different sizes to determine the optimal size for clinical use.

Methods: A total of 54 punch biopsies and 18 core needle biopsies were retrieved by three transplant surgeons.

Longitudinal assessment of female carriers of choroideremia using multimodal retinal imaging.

Background/aims: Female choroideremia carriers present with a spectrum of disease severity. Unlike in men, the rate of disease progression has not been well characterised in carriers. This longitudinal study aimed to determine the rate of retinal degeneration in choroideremia carriers, using multimodal imaging and microperimetry.

Role of neck dissection in management of patients with clinically apparent parotid metastatic melanoma - systematic review.

Patients with cutaneous melanoma with metastatic deposits in the parotid gland have poor prognosis due to the high risk of developing distant metastasis. In the era of effective immunotherapy, there is no consensus amongst head and neck surgeons about the extent of neck dissection required for patients presenting with clinically apparent parotid metastasis. This review aims to determine the incidence and pattern of occult neck disease for patients with parotid metastasis reported in the literature to help guide clinicians on the extent of neck dissection required.

Successfully initiating an escalation of care in acute ward settings-A qualitative observational study.

Aims: To address knowledge gaps by (i) developing a theoretical understanding of escalation and (ii) identifying escalation success factors.

Design: Non-participant observations were used to examine deteriorating patient escalation events.

Methods: Escalation event data were collected by a researcher who shadowed clinical staff, between February 16th 2021 and March 17th 2022 from two National Health Service Trusts.

Isolation of the left innominate artery: When to operate?

A right aortic arch with an isolated left innominate artery from the pulmonary artery is an exceedingly rare congenital cardiac malformation. We describe the management and complex surgical timing considerations in two such cases, successfully operated on day 4 and 7 months of age, including the use of cranial ultrasound as a helpful tool to guide decision-making. We also describe the first reported association of this defect with a 4q25 deletion encompassing the gene.

Changes in the investigation and management of suspected myocardial infarction and injury during COVID-19: a multi-centre study using routinely collected healthcare data.

Objective: The COVID-19 pandemic was associated with a reduction in the incidence of myocardial infarction (MI) diagnosis, in part because patients were less likely to present to hospital. Whether changes in clinical decision making with respect to the investigation and management of patients with suspected MI also contributed to this phenomenon is unknown.

Methods: Multicentre retrospective cohort study in three UK centres contributing data to the National Institute for Health Research Health Informatics Collaborative.

LGI1-antibody encephalitis: how to approach this highly treatable dementia mimic in memory and mental health services.

Leucine-rich glioma-inactivated 1-antibody-encephalitis is a treatable and potentially reversible cause of cognitive and psychiatric presentations, and may mimic cognitive decline, rapidly progressive dementia and complex psychosis in older patients. This aetiology is of immediate relevance given the alternative treatment pathway required, compared with other conditions presenting with cognitive deficits.

The PARTNER trial of neoadjuvant olaparib with chemotherapy in triple-negative breast cancer.

PARTNER is a prospective, phase II-III, randomized controlled clinical trial that recruited patients with triple-negative breast cancer, who were germline BRCA1 and BRCA2 wild type. Here we report the results of the trial. Patients (n = 559) were randomized on a 1:1 basis to receive neoadjuvant carboplatin-paclitaxel with or without 150 mg olaparib twice daily, on days 3 to 14, of each of four cycles (gap schedule olaparib, research arm) followed by three cycles of anthracycline-based chemotherapy before surgery.

Oncological outcomes of patients with oligometastatic oesophagogastric cancer.

Oligometastatic oesophagogastric cancer was recently defined by consensus as the presence of no more than two metastases and an 18-week period of oncological stability during chemotherapy. The number of patients who fit this criterion and whether their oncological outcome differs from those with multi-metastatic disease is unknown. We analysed a database of 497 patients from 2017 to 2021 with metastatic oesophageal cancer.

Pan-Asian adapted ESMO Clinical Practice Guidelines for the diagnosis, treatment and follow-up of patients with gastric cancer.

The European Society for Medical Oncology (ESMO) Clinical Practice Guidelines for the diagnosis, treatment and follow-up of patients with gastric cancer (GC), published in late 2022 and the updated ESMO Gastric Cancer Living Guideline published in July 2023, were adapted in August 2023, according to previously established standard methodology, to produce the Pan-Asian adapted (PAGA) ESMO consensus guidelines for the management of Asian patients with GC. The adapted guidelines presented in this manuscript represent the consensus opinions reached by a panel of Asian experts in the treatment of patients with GC representing the oncological societies of China (CSCO), Indonesia (ISHMO), India (ISMPO), Japan (JSMO), Korea (KSMO), Malaysia (MOS), the Philippines (PSMO), Singapore (SSO), Taiwan (TOS) and Thailand (TSCO), coordinated by ESMO and the Japanese Society of Medical Oncology (JSMO). The voting was based on scientific evidence and was independent of the current treatment practices, drug access restrictions and reimbursement decisions in the different Asian regions represented by the 10 oncological societies.

How clinicians make decisions for patient management plans in telehealth.

Aim: This systematic integrative literature review explores how clinicians make decisions for patient management plans in telehealth.

Background: Telehealth is a modality of care that has gained popularity due to the development of digital technology and the COVID-19 pandemic. It is recognized that telehealth, compared to traditional clinical settings, carries a higher risk to patients due to its virtual characteristics.

Improving escalation of deteriorating patients through cognitive task analysis: Understanding differences between work-as-prescribed and work-as-done.

Background: Appropriate care escalation requires the detection and communication of in-hospital patient deterioration. Although deterioration in the ward environment is common, there continue to be patient deaths where problems escalating care have occurred. Learning from the everyday work of health care professionals (work-as-done) and identifying performance variability may provide a greater understanding of the escalation challenges and how they overcome these.

An update on a persisting challenge: A systematic review and meta-analysis of the risk factors for surgical site infection post craniotomy.

Background: Surgical site infections (SSIs) postcraniotomy continue to impose a significant burden on health care systems and patient outcomes. It is, therefore, important to understand their risk factors in order to promote effective preventative measures. This meta-analysis aims to provide a comprehensive, up-to-date analysis of the risk factors associated with SSIs in neurosurgical procedures.

Comparison of in-gel and in-solution proteolysis in the proteome profiling of organ perfusion solutions.

Purpose: The organ perfusion solution (perfusate), collected at clinically and temporally significant stages of the organ preservation and transplantation process, provides a valuable insight into the biological status of an organ over time and prior to reperfusion (transplantation) in the recipient. The objective of this study was to assess two bottom-up proteomics workflows for the extraction of tryptic peptides from the perfusate.

Experimental Design: Two different kinds of perfusate samples from kidney and liver trials were profiled using liquid chromatography-mass spectrometry (LC-MS/MS).