• Experiences of people with Parkinson's disease and their views on physical activity interventions: a qualitative systematic review 

  Lovegrove, Christopher (Wolters Kluwer, 2019-04)

  The objective of the review was to synthesize the best available qualitative evidence on the experiences and preferences of people with Parkinson's disease for physical activity, their perceived motivators and barriers to ...

• Beta cells in type 1 diabetes: mass and function; sleeping or dead? 

  Oram, Richard (Springer, 2019-04)

  Histological analysis of donor pancreases coupled with measurement of serum C-peptide in clinical cohorts has challenged the idea that all beta cells are eventually destroyed in type 1 diabetes. These findings have raised ...

• Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation 

  Ellard, Sian (Bioscientifica, 2019-02-11)

  We report a case of partial diazoxide responsiveness in a child with severe congenital hyperinsulinaemic hypoglycaemia (CHI) due to a homozygous ABCC8 mutation. A term baby, with birth weight 3.8 kg, born to consanguineous ...

• Inflammatory bowel disease in children and adolescents. 

  Chanchlani, Neil; Russell, Richard K, (Canadian Medical Association, 2019-02-11)

• Validation of inertial measurement units with optical tracking system in patients operated with Total hip arthroplasty 

  Timperley, John (BioMed Central, 2019-02-06)

  Patient reported outcome measurement (PROMs) will not capture in detail the functional joint motion before and after total hip arthroplasty (THA). Therefore, methods more specifically aimed to analyse joint movements may ...

• A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8 

  Houghton, Jayne (De Gruyter, 2019-03-26)

  Congenital hyperinsulinism (CHI) occurs due to an unregulated insulin secretion from the pancreatic β-cells resulting in hypoglycaemia. Causative mutations in multiple genes have been reported. Phenotypic variability exists ...

• Phenotypic variability in two siblings with monogenic diabetes due to the same ABCC8 gene mutation 

  Houghton, Jayne (Wiley, 2019-02-07)

  ABCC8 gene mutations with different inheritance patterns have been well described to cause transient and permanent forms of neonatal diabetes with onset of hyperglycaemia commonly before the age of 6 months, and rare cases ...

• De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability 

  Rankin, Julia (Wiley, 2019-04)

  DDX3X (Xp11.4) encodes a DEAD-box RNA helicase that escapes X chromosome inactivation. Pathogenic variants in DDX3X have been shown to cause X-linked intellectual disability (ID) (MRX102, MIM: 300958). The phenotypes ...

• Percutaneous consolidation of bone metastases: strategies and techniques 

  Shaygi, Benham (Springer, 2019-02-06)

  Patients with cancer can present with bone metastases (BM), which are frequently complicated by different types of fractures necessitating prompt management to avoid serious impairment in terms of quality of life and ...

• Clinical Events After Deferral of LAD Revascularization Following Physiological Coronary Assessment 

  Sharp, Andrew (Elsevier, 2019-02-05)

  Physicians are not always comfortable deferring treatment of a stenosis in the left anterior descending (LAD) artery because of the perception that there is a high risk of major adverse cardiac events (MACE). The authors ...

• Systemic agents for psoriasis and their relevance to primary care 

  Hunt, William; Frow, Helen (Royal College of General Practitioners, 2019-02)

  Psoriasis is a common chronic autoimmune inflammatory disease. There is an increasing range of systemic agents prescribed by specialists in the management of psoriasis. Thus, it is important for clinicians to become familiar ...

• What's in a smile? A review of the benefits of the clinician's smile 

  Edwards, Harry (BMJ, 2019-01-30)

  For millennia, the smile has been recognised as a powerful communication device, offering benefits to both giver and receiver with few drawbacks. A sign of compassion, empathy and friendliness, smiling can benefit healthcare ...

• Genetic risk variants for brain disorders are enriched in cortical H3K27ac domains 

  Mill, Jonathan (BioMed Central, 2019-01)

  Most variants associated with complex phenotypes in genome-wide association studies (GWAS) do not directly index coding changes affecting protein structure. Instead they are hypothesized to influence gene regulation, with ...

• Peri-operative and oncological outcomes of radical prostatectomy for high-risk prostate cancer in the UK: an analysis of surgeon reported data 

  McGrath, John S. (Wiley, 2019-01-25)

  To analyse the peri-operative and oncological outcomes of all RPs performed for high risk prostate cancer(PCa) in the British Association of Urological Surgeons (BAUS) national registry from 2014-2015.

• Short-term results after laparoscopic repair of giant hiatal hernias with pledgeted sutures: a retrospective analysis 

  Antoniou, Stavros A. (Springer, 2019-01-25)

  Forty-one patients who underwent laparoscopic 270° Toupet fundoplication with pledgeted sutured crura between September 2014 and April 2017 were evaluated with regard to recurrence of hiatal hernia at 3 months and 1 year ...

• Chaplaincy: a rich profession with genuine value 

  Harrison, Simon (BMJ, 2019-01-23)

• Rationale for enteroviral vaccination and antiviral therapies in human type 1 diabetes 

  Morgan, Noel G. (Springer, 2019-01-23)

  In type 1 diabetes, pancreatic beta cells are destroyed by chronic autoimmune responses. The disease develops in genetically susceptible individuals, but a role for environmental factors has been postulated. Viral infections ...

• Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype 

  Rankin, Julia (Wiley, 2019-01-21)

  Whole exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, ...

• Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis. 

  Oram, Richard (American Diabetes Association, 2019-02)

  Previously generated genetic risk scores (GRSs) for type 1 diabetes (T1D) have not captured all known information at non-HLA loci or, particularly, at HLA risk loci. We aimed to more completely incorporate HLA alleles, ...

• Urolink supporting the development of urological services in Hawassa, Ethiopia 

  Campain, NIck (Wiley, 2019-01-18)

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