RD&E Research Repository: Recent submissions
Now showing items 21-40 of 3408
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Chronic groin pain following inguinal hernia repair in the laparoscopic era: Systematic review and meta-analysis
(Elsevier, 2022-05-21)BACKGROUND: The impact of laparoscopic inguinal hernia repair (IHR) on chronic groin pain (CGP) prevalence, risk and daily activities compared to open IHR is still unclear. METHODS: A meta-analysis of randomised controlled ... -
The effect of lockdown on melanoma stage in Devon, UK
(Wiley, 2022-08-01)We performed a prospective analysis of Breslow thickness in melanoma before the COVID-19 pandemic and after. It shows that there is a statistically significant increase in melanoma thickness, and ultimately melanoma staging, ... -
Recent advances in clinical practice: management of inflammatory bowel disease during the COVID-19 pandemic
(BMJ, 2022-07-01)The COVID-19 pandemic has raised considerable concerns that patients with inflammatory bowel disease (IBD), particularly those treated with immunosuppressive therapies, may have an increased risk of SARS-CoV-2 acquisition, ... -
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
(Nature, 2022-09-01)PURPOSE: ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response ... -
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
(Nature, 2022-08-01)PURPOSE: Several groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the ... -
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
(Nature, 2022-09-07)PURPOSE: The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. ... -
Palliative long-term abdominal drains for the management of refractory ascites due to cirrhosis: a consensus document
(BMJ, 2022-07-12)Palliative care remains suboptimal in advanced cirrhosis, in part relating to a lack of evidence-based interventions. Ascites remains the most common cirrhosis complication resulting in hospitalisation. Many patients with ... -
Vaccine escape, increased breakthrough and reinfection in infliximab-treated patients with IBD during the Omicron wave of the SARS-CoV-2 pandemic
(BMJ, 2022-07-28)OBJECTIVE: Antitumour necrosis factor (TNF) drugs impair serological responses following SARS-CoV-2 vaccination. We sought to assess if a third dose of a messenger RNA (mRNA)-based vaccine substantially boosted anti-SARS-CoV-2 ... -
Detection and characterization of male sex chromosome abnormalities in the UK Biobank study
(Nature, 2022-09-01)PURPOSE: The study aimed to systematically ascertain male sex chromosome abnormalities, 47,XXY (Klinefelter syndrome [KS]) and 47,XYY, and characterize their risks of adverse health outcomes. METHODS: We analyzed genotyping ... -
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)
(Nature, 2022-09-01)PURPOSE: Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items. For variant classifications above the actionability ... -
Symptom control in advanced chronic liver disease: integrating anticipatory palliative and supportive care
(BMJ, 2022-07-12)The number of patients coming to hospital with liver disease is increasing. There was a worrying trend before the pandemic, and this has intensified. Despite improvements in the management of patients with advanced cirrhosis ... -
Pregnancy and neonatal outcomes of COVID-19: The PAN-COVID study
(Elsevier, 2022-09-01)OBJECTIVE: To assess perinatal outcomes for pregnancies affected by suspected or confirmed SARS-CoV-2 infection. METHODS: Prospective, web-based registry. Pregnant women were invited to participate if they had suspected ... -
Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation
(Elsevier, 2022-09-01)INTRODUCTION: Genetic disorders are a significant cause of paediatric morbidity and mortality. Rapid exome sequencing was introduced by the National Health Service (NHS) in England on 1(st) October 2019 for acutely unwell ... -
CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago
(Frontiers Media, 2022-04-09)Background: A CLCC1 c. 75C > A (p.D25E) mutation has been associated with autosomal recessive pigmentosa in patients in and from Pakistan. CLCC1 is ubiquitously expressed, and knockout models of this gene in zebrafish and ... -
Gene expression analysis reveals a 5-gene signature for progression-free survival in prostate cancer
(Frontiers Media, 2022-08-30)Prostate cancer (PCa) is the second most common male cancer worldwide, but effective biomarkers for the presence or progression risk of disease are currently elusive. In a series of nine matched histologically confirmed ... -
Sedaghatian spondylometaphyseal dysplasia in two siblings
(Elsevier, 2022-08-01)Sedaghatian type spondylometaphyseal dysplasia (SSMD) is a rare skeletal dysplasia with only 24 reported cases to date. Despite the limited literature available, evidence suggests this is a multi-system disorder, with ... -
Developing a Diagnostic Multivariable Prediction Model for Urinary Tract Cancer in Patients Referred with Haematuria: Results from the IDENTIFY Collaborative Study
(Elsevier, 2022-06-24)BACKGROUND: Patient factors associated with urinary tract cancer can be used to risk stratify patients referred with haematuria, prioritising those with a higher risk of cancer for prompt investigation. OBJECTIVE: To develop ... -
The use of a modified posterior approach (SPAIRE) may be associated with an increase in return to pre-injury level of mobility compared to a standard lateral approach in hemiarthroplasty for displaced intracapsular hip fractures: a single-centre study of the first 285 cases over a period of 3.5 years
(Springer, 2022-07-25)BACKGROUND AND PURPOSE: A tendon-sparing modification of the posterior approach to the hip joint was introduced in the specialist hip unit at our institution in 2016. The SPAIRE technique-acronym for Saving Piriformis And ... -
The Effect of Dysglycaemia on Changes in Pulmonary and Aerobic Function in Cystic Fibrosis
(Frontiers Media, 2022-04-19)Cross-sectional studies have reported lower pulmonary and aerobic function during exercise in people with cystic fibrosis-related diabetes (CFRD) compared to non-CFRD counterparts. However, this association has yet to be ... -
Frailty in the ICU: what are we doing with all this information?
(Springer, 2022-09-01)