2019 RD&E publications
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A summary list of all RD&E research outputs published or issued in 2019
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"They've walked the walk": a systematic review of quantitative and qualitative evidence for parent-to-parent support for parents of babies in neonatal care
(Elsevier, 2019-04-18)The aim of this systematic review was to explore the effects and experiences of parent-to-parent support in neonatal intensive care from the perspectives of those giving, receiving, or implementing support. Electronic ... -
The use of adenosine stress perfusion cardiac magnetic resonance in determining incomplete revascularization post-coronary artery bypass grafting and the importance of anterior septal vessels
(European Society of Cardiology, 2019-04-10)Incomplete revascularization post-coronary artery bypass grafting (CABG) may occur in up to one quarter of patients,1 and meta-analyses suggest this is associated with poor outcomes.1,2 ESC guidelines now prioritize complete ... -
Renal nurses' lived experiences of discussions about sexuality
(Mark Allen Group, 2019-03)Renal teams focus predominantly on renal replacement therapy and physical symptom management, rather than psychological issues, such as mental health, body image or self-esteem. This study aims to increase understanding ... -
Disease progression and treatment response in data-driven subgroups of type 2 diabetes compared with models based on simple clinical features: an analysis using clinical trial data
(Elsevier, 2019-06)Research using data-driven cluster analysis has proposed five subgroups of diabetes with differences in diabetes progression and risk of complications. We aimed to compare the clinical utility of this subgroup-based approach ... -
Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd
(Elsevier, 2019-04-23)Heterotaxy and congenital heart defects associated with pathogenic variants in the PKD1L1 gene (autosomal visceral heterotaxy type 8, MIM 617205) has been reported in only four individuals from three unrelated families. ... -
Periorbital necrotising fasciitis with underlying undiagnosed hepatitis C infection
(BMJ, 2019-04)We report the case of a 56-year-old man, previously well, who presented with a spontaneous right-sided periorbital necrotising soft tissue infection and subsequently found to have undiagnosed hepatitis C and liver cirrhosis. ... -
Single centre experience of bilateral gracilis flap perineal reconstruction following extra-levator abdominoperineal excision
(Wiley, 2019-04)A variety of tissue flaps have been described for the closure of perineal wounds following abdominoperineal excision of the rectum (APE) or exenteration for locally advanced/recurrent rectal cancer and salvage surgery for ... -
A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development
(Cell Press, 2019-05)We report a recurrent CNOT1 de novo missense mutation, GenBank: NM_016284.4; c.1603C>T (p.Arg535Cys), resulting in a syndrome of pancreatic agenesis and abnormal forebrain development in three individuals and a similar ... -
Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms
(Nature, 2019-01)Being a morning person is a behavioural indicator of a person's underlying circadian rhythm. Using genome-wide data from 697,828 UK Biobank and 23andMe participants we increase the number of genetic loci associated with ... -
Pathogenic variants in GPC4 cause Kelpert Syndrome
(Cell Press, 2019-05)Glypicans are a family of cell-surface heparan sulfate proteoglycans that regulate growth-factor signaling during development and are thought to play a role in the regulation of morphogenesis. Whole-exome sequencing of the ... -
Modelling the pathological long-range regulatory effects of human structural variation with patient-specific hiPSCs
(Cell Press, 2019-05)The pathological consequences of structural variants disrupting 3D genome organization can be difficult to elucidate in vivo due to differences in gene dosage sensitivity between mice and humans. This is illustrated by ... -
Type 1 diabetes defined by severe insulin deficiency occurs after 30 years of age and is commonly treated as type 2 diabetes
(Springer, 2019-07)Late-onset type 1 diabetes can be difficult to identify. Measurement of endogenous insulin secretion using C-peptide provides a gold standard classification of diabetes type in longstanding diabetes that closely relates ... -
Cystic fibrosis and insulin therapy: a reality check
(Wiley, 2019-04) -
Trisomy 21 is a cause of permanent neonatal diabetes that is autoimmune but not HLA associated
(American Diabetes Association, 2019-04)Identifying new causes of permanent neonatal diabetes (diagnosis <6 months; PNDM) provides important insights into β-cell biology. Patients with Down syndrome (DS) resulting from trisomy 21 are 4 times more likely to have ... -
Persistent C-peptide is associated with reduced hypoglycaemia but not HbA1c in adults with longstanding Type 1 diabetes: evidence for lack of intensive treatment in UK clinical practice?
(Wiley, 2019-04)Most people with Type 1 diabetes have low levels of persistent endogenous insulin production. The Diabetes Control and Complications Trial showed that close to diagnosis preserved endogenous insulin was associated with ... -
Availability of specific tools to assess patient reported outcomes in hip arthroplasty in Spain. Identifying the best candidates to incorporate in an arthroplasty register. A systematic review and standardized assessment
(PLoS, 2019-04)1) To systematically review the available scientific literature regarding specific instruments developed and/or tested in a Spanish population, to assess these PROMs in hip arthroplasty; 2) to carry out a standardized ... -
Introduction to clinical practice guidelines
(Springer, 2019-03)Clinical practice guidelines (CPGs) consist of recommendations developed to support specific clinical encounters. Their actionable messages intend to guide best practice. CPGs are distinct from clinical pathways. Beyond ... -
A systematic review of the complications of contemporary total elbow arthroplasty
(Sage, 2019-03)Total elbow arthroplasty is a low-volume procedure. The indications and implants have evolved in recent times. This study evaluates the complication rates associated with each of the most frequently used contemporary ... -
Intersphincteric resection: indications and outcome.
(Springer, 2019-03)Despite advances in the management of rectal cancer, surgery remains the mainstay of treatment with curative intent. The major advance in rectal cancer care was the standardization of surgical technique, total mesorectal ...
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