RD&E Research Repository: Recent submissions
Now showing items 21-40 of 1903
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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 ... -
How can ways of working with others be developed to improve perinatal mental health care?
(Mark Allen Group, 2019-03)There is a national drive to improve perinatal mental healthcare, as a significant proportion of maternal deaths are attributed to mental health problems. This report will evaluate how ways of working with others could be ... -
Up to date on phosphate management and phosphate binders
(Mark Allen Group, 2019-02)Although the cause of hyperphosphatemia remains the same, its management through dietary advice and medication is changing to keep up with the latest evidence. This article discusses some of the recent updates to the KDIGO ... -
Association between level of fecal calprotectin and progression of Crohn's Disease
(Elsevier, 2019-02-14)Mucosal healing is associated with improved outcomes in patients with Crohn’s disease (CD), but assessment typically requires ileocolonoscopy. Calprotectin can be measured in fecal samples to determine luminal disease ... -
Evidence of a causal relationship between body mass index and psoriasis: a mendelian randomization
(PLoS, 2019-01)Psoriasis is a common inflammatory skin disease that has been reported to be associated with obesity. We aimed to investigate a possible causal relationship between body mass index (BMI) and psoriasis. -
The outcome of cemented acetabular componenets in total hip arthroplasty for osteoarthritis defines a proficiency threshold: results of 22,956 cases from the Australian Orthopaedic Association National Joint Replacement Registry
(Elsevier, 2019-03)The declining popularity of cemented acetabular components is incongruous, given the published results of prostheses implanted using contemporary techniques. The outcome of arthroplasty has previously been demonstrated to ...