Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.

Investigating the genetic factors influencing human birth weight may lead to biological insights into fetal growth and long-term health. We report analyses of rare variants that impact birth weight when carried by either fetus or mother, using whole exome sequencing data in up to 234,675 participants. Rare protein-truncating and deleterious missense variants are collapsed to perform gene burden tests.

British Society of Gastroenterology National Evaluation of Colonoscopy Quality: Findings from the National Endoscopy Database.

Background And Aims: Analysis of national colonoscopy quality using automatically uploaded data from a national database, including exploring performance variation.

Methods: Data on all colonoscopies performed in the UK 01/03/2019-29/02/2020 and recorded in the National Endoscopy Database were analysed. Unadjusted key performance indicators were calculated and proportions of endoscopists achieving national standards were determined.

Optimizing diabetes management interventions for Black and Hispanic adults using the multiphase optimization strategy: Protocol for a randomized mixed methods factorial trial.

Background: Black and Hispanic adults with diabetes are more likely to experience diabetes complications and die from diabetes compared to non-Hispanic whites. This disparity may be due to medication adherence being negatively affected by social determinants of health (SDOH) and negative beliefs about diabetes and diabetes medicines. Pharmacist delivered medication therapy management (MTM) improves clinical outcomes.

Breast cancer patients with a pre-existing mental illness are less likely to receive guideline-recommended cancer treatment: A systematic review and meta-analysis.

Breast cancer is the most commonly diagnosed cancer worldwide, with early detection and advanced treatments contributing to declining mortality rates. However, managing comorbid conditions, particularly mental illness, presents significant challenges for cancer treatment. This study systematically reviews and meta-analyses the impact of having a pre-existing mental illness on breast cancer treatment utilisation, focusing on specific treatments and comparing different mental illnesses.

Irish Prostate Cancer Outcomes Research (IPCOR) registry: cohort profile.

Purpose: To describe the Irish Prostate Cancer Outcomes Research (IPCOR) registry. The cohort was collected to inform and improve the prostate cancer journey of men in Ireland.

Participants: Established in 2015, IPCOR was a unique large-scale prospective cohort study registering men with prostate cancer in Ireland.

Are we there yet? Closing the gap of prostate cancer presentation disparities in Ireland.

Introduction: The Irish Prostate Cancer Outcomes Research (IPCOR) Study collected longitudinal data on men newly diagnosed with Prostate Cancer (PC). Understanding the nuances of disease presentation is essential, considering the high incidence of PC in Ireland. This study aims to characterise disease presentation features, identify factors related to socio demographic disparities in presentation following opportunistic screening, and shed light on potential inequality challenges within Ireland's healthcare structure.

"Oh when's your treatment ending?" "Never!" The unmet needs of cancer patients treated with immunological, biological and precision therapies: A qualitative interview study.

Purpose: To explore the unmet supportive care needs of patients with advanced cancer receiving immuno-, biological and precision (IBP) therapies.

Methods: We conducted semi-structured interviews with: (1) adults diagnosed with advanced cancer (lung, colorectal, ovary, breast, renal, melanoma) treated with an IBP therapy (e.g.

Delineating Care Recipient Burden Constructs: Development and Validation of the CARE-2B Scale for Care Recipient Self-Perceived Burden and Proxy Assessment of Caregiver Burden.

Background And Objectives: Care Recipient Self-Perceived Burden (CR-SPB) to Caregivers is an important but overlooked aspect within the caregiver-care recipient relationship. This study aimed to 1) develop and validate the CARE-2B (Care Recipient's Two Burden) Scale, assessing both CR-SPB and their proxy assessment of caregiver burden (Proxy-CB); 2) examine whether the CR-SPB and Proxy-CB differ from caregiver burden's own assessment and other health and social care constructs.

Research Design And Methods: Data were collected from 504 caregiver-care recipient dyads in the US using an online panel between August 2022 and February 2023.

Service Access and Supportive Care Experiences among Urban and Rural Cancer Survivors: Informing Social Work Practice.

Access to medical and supportive care services is important for the health and quality of life of cancer survivors; however, services are not always available or accessible to all survivors equally. This study aims to explore the experiences of cancer services among cancer survivors in urban and rural settings to inform social work practice. Authors conducted interviews with 25 cancer survivors (colorectal, n = 13; hematological, n = 12) in the West of Ireland, using a narrative inquiry approach.

A Phase II Study of Atezolizumab, Pertuzumab, and High-Dose Trastuzumab for Central Nervous System Metastases in Patients with HER2-Positive Breast Cancer.

Purpose: Patients with HER2-positive breast cancer brain metastases have few effective systemic therapy options. In a prior study, pertuzumab with high-dose trastuzumab demonstrated a high clinical benefit rate (CBR) in the central nervous system (CNS) in patients with brain metastases. The current trial evaluated whether the addition of atezolizumab to this regimen would produce further improvements in CNS response.

People, places, systems and society:A qualitative exploration of socio-cultural factors in head and neck cancer survivorship.

Purpose: People living with head and neck cancer (HNC) often endure permanent and life changing adverse effects of treatment and reduced health-related quality of life. Study of post-traumatic growth (PTG), is gaining traction to understand why some people living with cancer have better psychosocial outcomes than others. Current theoretical models on PTG point to the importance of 'socio-cultural influences' but do not provide insight into how such socio-cultural factors influence survivorship outcomes.

Polyp detection with colonoscopy assisted by the GI Genius artificial intelligence endoscopy module compared with standard colonoscopy in routine colonoscopy practice (COLO-DETECT): a multicentre, open-label, parallel-arm, pragmatic randomised controlled trial.

Background: Increased polyp detection during colonoscopy is associated with decreased post-colonoscopy colorectal cancer incidence and mortality. The COLO-DETECT trial aimed to assess the clinical effectiveness of the GI Genius intelligent endoscopy module for polyp detection, comparing colonoscopy assisted by GI Genius (computer-aided detection [CADe]-assisted colonoscopy) with standard colonoscopy in routine practice.

Methods: We did a multicentre, open-label, parallel-arm, pragmatic randomised controlled trial in 12 National Health Service (NHS) hospitals (ten NHS Trusts) in England, among adults (aged ≥18 years) undergoing planned colonoscopy for gastrointestinal symptoms or for surveillance due to personal or family history (ie, symptomatic indications), or colorectal cancer screening.

Attitudes and Knowledge of Electroconvulsive Therapy: An Exploration of Medical Students' Perspectives.

Aims: To explore knowledge and attitudes of medical students before and after exposure to a technology-enhanced learning and teaching (TELT) session about electroconvulsive therapy (ECT).

Background: Adequate knowledge of and attitudes toward ECT is essential for medical students. However, the impact of teaching on knowledge and attitudes is infrequently studied.

Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.

Penetrance is the probability that an individual with a pathogenic genetic variant develops a specific disease. Knowing the penetrance of variants for monogenic disorders is important for counseling of individuals. Until recently, estimates of penetrance have largely relied on affected individuals and their at-risk family members being clinically referred for genetic testing, a 'phenotype-first' approach.

Measuring patient-reported experience of solid organ transplantation healthcare: A scoping review of condition- and transplant-specific measures.

Background: Measures of patient experience are increasingly valued as key to healthcare quality assessment. We aimed to identify and describe publicly available measures assessing patient-reported experience of solid organ transplantation healthcare, and identify patient groups, healthcare settings, or aspects of patient experience underserved by existing measures.

Methods: We systematically searched MEDLINE, Embase, CINAHL, PsycINFO, Cochrane CENTRAL, Scopus and Web of Science from inception to 6th July 2023; supplemented with grey literature searches.

Sociodemographic Disparities in HER2+ Breast Cancer Trastuzumab Receipt: An English Population-Based Study.

Background: Sociodemographic disparities in traditional breast cancer treatment receipt in nonpublicly funded healthcare systems are well documented. This study investigated trastuzumab receipt by sociodemographic factors within a female, HER2+ breast cancer population in England's publicly funded National Health Service.

Methods: The English national population-based cancer registry and linked Systemic Anti-Cancer Therapy database identified 36,985 women with HER2+ invasive breast cancer diagnosed between January 1, 2012 and December 31, 2017.

Lee Silverman voice treatment versus NHS speech and language therapy versus control for dysarthria in people with Parkinson's disease (PD COMM): pragmatic, UK based, multicentre, three arm, parallel group, unblinded, randomised controlled trial.

Objectives: To assess the clinical effectiveness of two speech and language therapy approaches versus no speech and language therapy for dysarthria in people with Parkinson's disease.

Design: Pragmatic, UK based, multicentre, three arm, parallel group, unblinded, randomised controlled trial.

Setting: The speech and language therapy interventions were delivered in outpatient or home settings between 26 September 2016 and 16 March 2020.

Mistletoe Extract in Patients With Advanced Pancreatic Cancer: a Double-Blind, Randomized, Placebo-Controlled Tial (MISTRAL).

Background: Patients with advanced pancreatic cancer have limited survival and few treatment options. We studied whether mistletoe extract (ME), in addition to comprehensive oncological treatment and palliative care, prolongs overall survival (OS) and improves health-related quality of life (HRQoL).

Methods: The double-blind, placebo-controlled MISTRAL trial was conducted in Swedish oncology centers.

'I Do It All Alone': The Burdens and Benefits of Being Diagnosed With, and Treated for, Colorectal Cancer During the Covid-19 Pandemic.

Introduction: The Covid-19 pandemic dramatically altered the way cancer care services were accessed and delivered, including for colorectal cancer (CRC). In the United Kingdom, patients were discouraged from presenting in primary care, many consultations took place remotely, investigative procedures and screening programmes were temporarily suspended, and fewer operations and treatments were delivered. People had to face the practical consequences of having cancer during a pandemic and navigate never before seen pathways, often alone.