Royal Devon Research Repository: Recent submissions
Now showing items 41-60 of 3493
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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
(Nature, #VALUE!)PURPOSE: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit ... -
Importance of adopting standardized MANE transcripts in clinical reporting
(Nature, 2022-11-28) -
Operative management of acetabular fractures in the elderly: a case series
(Springer, 2022-10-19)BACKGROUND: Our objective was to identify acetabular fractures in the elderly population (over 60 years of age), treated with open reduction and internal fixation (ORIF), and to examine their outcomes, primarily the risk ... -
Comparison of Long-term Outcomes for Young and Healthy Patients with cT1a and cT3a Renal Cell Carcinoma Treated with Partial Nephrectomy
(Elsevier, 2022-10-11)Partial nephrectomy (PN) is recommended for renal cell carcinoma (RCC) of <4 cm. We hypothesized that there is no difference in all-cause mortality (ACM) between cT1a, cT1b, and cT3a <4 cm RCC following PN. The National ... -
The relationship between islet autoantibody status and the genetic risk of type 1 diabetes in adult-onset type 1 diabetes
(Springer, 2022-11-10)AIMS/HYPOTHESIS: The reason for the observed lower rate of islet autoantibody positivity in clinician-diagnosed adult-onset vs childhood-onset type 1 diabetes is not known. We aimed to explore this by assessing the genetic ... -
The impact of population-level HbA(1c) screening on reducing diabetes diagnostic delay in middle-aged adults: a UK Biobank analysis
(Springer, 2022-11-22)AIMS/HYPOTHESIS: Screening programmes can detect cases of undiagnosed diabetes earlier than symptomatic or incidental diagnosis. However, the improvement in time to diagnosis achieved by screening programmes compared with ... -
Routine Islet Autoantibody Testing in Clinically Diagnosed Adult-Onset Type 1 Diabetes Can Help Identify Misclassification and the Possibility of Successful Insulin Cessation
(American Diabetes Association, 2022-10-07)OBJECTIVE: Recent joint American Diabetes Association and European Association for the Study of Diabetes guidelines recommend routine islet autoantibody testing in all adults newly diagnosed with type 1 diabetes. We aimed ... -
Ending healthcare's over-reliance on containment products and catheters
(Mark Allen Group, 2022-10-13) -
HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress
(Springer, 2022-10-14)HERC2 gene encodes an E3 ubiquitin ligase involved in several cellular processes by regulating the ubiquitylation of different protein substrates. Biallelic pathogenic sequence variants in the HERC2 gene are associated ... -
Mechanical Alignment in Total Knee Arthroplasty for Varus Knee Osteoarthritis Leads to Significant Tibial Bone Loss
(PubMed Central, 2022-10-01)Background Obtaining a neutral postoperative alignment is said to be a guiding principle for performing a successful total knee arthroplasty (TKA). There are many different alignment philosophies and surgical techniques ... -
Syndrome inflammatoire multisystémique chez les enfants
(Canadian Medical Association, 2022-10-17) -
Z59.5 - The most important colorectal diagnosis of all?
(Wiley, 2022-10-01)Colorectal surgeons and public health doctors do not seem like an obvious match, but we live in unique times and consequently, now more than ever, there is a necessity for the colorectal community to remember the breadth ... -
Safety and Efficacy of the NVX-CoV2373 COVID-19 Vaccine at Completion of the Placebo-Controlled Phase of a Randomized Controlled Trial
(Oxford University Press, 2022-10-10)BACKGROUND: The recombinant protein-based vaccine, NVX-CoV2373, demonstrated 89.7% efficacy against COVID-19 in a phase 3, randomized, observer-blinded, placebo-controlled trial in the United Kingdom. The protocol was ... -
Concept: A randomised multicentre trial of first line chemotherapy comparing three weekly cabazitaxel versus weekly paclitaxel in HER2 negative metastatic breast cancer
(Elsevier, 2022-09-24)BACKGROUND: Paclitaxel is commonly used as first-line chemotherapy for HER2-negative metastatic breast cancer (MBC) patients. However, with response rates of 21.5-53.7% and significant risk of peripheral neuropathy, there ... -
Patient and public involvement and engagement with cardiac arrest survivors
(The College of Paramedics, 2022-06-01)BACKGROUND: Patient and public involvement and engagement (PPIE) with cardiac arrest survivors is an essential component of research to strengthen development, design, delivery and dissemination to ensure research priorities ... -
Tuberous xanthoma secondary to homozygous familial hypercholesterolaemia: a life-threatening diagnosis
(Wiley, 2022-12-01)We report the case of a 9-year-old girl who presented with asymptomatic lesions on the extensor surfaces of the elbows and knees, in keeping with tuberous xanthoma. She was investigated and diagnosed with homozygous familial ... -
Ten areas for ICU clinicians to be aware of to help retain nurses in the ICU
(BioMed Central, 2022-10-13)Shortage of nurses on the ICU is not a new phenomenon, but has been exacerbated by the COVID-19 pandemic. The underlying reasons are relatively well-recognized, and include excessive workload, moral distress, and perception ... -
Surgical Methods of Fistula Closure in fistulating perianal Crohn's Disease
(Wiley, 2022-11-25)