RD&E Research Repository: Recent submissions
Now showing items 21-40 of 2139
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Systematic underestimation of the epigenetic clock and age acceleration in older subjects.
(Biomed Central, 2019-12)The Horvath epigenetic clock is widely used. It predicts age quite well from 353 CpG sites in the DNA methylation profile in unknown samples and has been used to calculate "age acceleration" in various tissues and environments. -
Cutaneous Leishmaniasis in a globetrotting explorer
(BMJ, 2019-12) -
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration
(Nature, 2019-09)The duration of pregnancy is influenced by fetal and maternal genetic and non-genetic factors. Here we report a fetal genome-wide association meta-analysis of gestational duration, and early preterm, preterm, and postterm ... -
Long-term survival of the Cemented Exeter Universal Stem in patients 50 years and younger: an update on 130 hips
(Elsevier, 2020-04)There is variable evidence regarding survivorship beyond 20 years of total hip arthroplasties in young patients. We report the long-term results of the Exeter cemented hip system in patients ≤50 years at minimum of 20 years. -
International classification of abdominal wall planes (ICAP) to describe mesh insertion for ventral hernia repair
(Wiley, 2020-02)Nomenclature for mesh insertion during ventral hernia repair is inconsistent and confusing. Several terms, including 'inlay', 'sublay' and 'underlay', can refer to the same anatomical planes in the indexed literature. This ... -
A longitudinal study of epileptic seizures in Alzheimer's Disease
(Frontiers in Neurology, 2019-12)The prevalence of epileptic seizures is increased in patients in the clinical stages of Alzheimer's disease (AD) when compared to age-matched cognitively normal populations. In previously reported work from the Presentation ... -
Multicomponent hospital-led interventions to reduce hospital stay for older adults following elective surgery: a systematic review
(National Institute of Health Research, 2019-12)Background: Elective older adult inpatient admissions are increasingly common. Older adults are at an elevated risk of adverse events in hospital, potentially increasing with lengthier hospital stay. Hospital-led ... -
Residual adrenal function in Autoimmune Addison’s Disease—effect of dual therapy with rituximab and depot tetracosactide
(Endocrine Society, 2020-04)In autoimmune Addison's disease (AAD), exogenous glucocorticoid (GC) therapy is an imperfect substitute for physiological GC secretion. Patients on long-term steroid replacement have increased morbidity, reduced life ... -
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families
(Biomed Central, 2019-12)Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden. -
Lipid metabolic pathways converge in motor neuron degenerative diseases
(Oxford Academic, 2020-04)Motor neuron diseases (MNDs) encompass an extensive and heterogeneous group of upper and/or lower motor neuron degenerative disorders, in which the particular clinical outcomes stem from the specific neuronal component ... -
Definitions for loss of domain: an International Delphi Consensus of Expert Surgeons
(Springer, 2020-04)No standardized written or volumetric definition exists for 'loss of domain' (LOD). This limits the utility of LOD as a morphological descriptor and as a predictor of peri- and postoperative outcomes. Consequently, our aim ... -
Patient-reported Quality of Life outcomes in patients treated for muscle-invasive bladder cancer with radiotherapy ± chemotherapy in the BC2001 Phase III Randomised Controlled Trial
(Elsevier, 2020-02)BC2001, the largest randomised trial of bladder-sparing treatment for muscle-invasive bladder cancer, demonstrated improvement of local control and bladder cancer-specific survival from the addition of concomitant ... -
GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI
(American Association for the Advancement of Science, 2019-09)Early childhood growth patterns are associated with adult health, yet the genetic factors and the developmental stages involved are not fully understood. Here, we combine genome-wide association studies with modeling of ... -
Hereditary Leiomyomatosis and renal cell cancer: clinical, molecular, and screening features in a cohort of 185 affected individuals
(Elsevier, 2019-12)Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumour predisposition syndrome characterised by predisposition to cutaneous and uterine leiomyomata and renal cell carcinoma (RCC). -
Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos Syndrome
(Wiley, 2020-03)Familial amniotic band sequence (ABS) is rare but has been reported in the offspring of mothers with connective tissue disorders. We present a family of two half-siblings with ABS who share the same biological father. ... -
Barriers to undertaking technical skills
(Wiley, 2020-04) -
Calcification microstructure reflects breast tissue microenvironment
(Springer, 2019-12)Microcalcifications are important diagnostic indicators of disease in breast tissue. Tissue microenvironments differ in many aspects between normal and cancerous cells, notably extracellular pH and glycolytic respiration. ... -
Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes
(American Society for Clinical Investigation, 2020-01) -
Treatment of hemorrhoids: A survey of surgical practice in Australia and New Zealand
(IS Publishing, 2019-11)Hemorrhoidal disease is the most common anorectal disorder. Hemorrhoids can be classified as external or internal, according to their relation to the dentate line. External hemorrhoids originate below the dentate line and ... -
Effects of body mass index on relationship status, social contact and socio-economic position: Mendelian randomization and within-sibling study in UK Biobank
(Oxford Academic, 2019-12)Background: We assessed whether body mass index (BMI) affects social and socio-economic outcomes. Methods: We used Mendelian randomization (MR), non-linear MR and non-genetic and MR within-sibling analyses, to estimate ...