A 19-SNP coronary heart disease gene score profile in subjects with type 2 diabetes: the coronary heart disease risk in type 2 diabetes (CoRDia study) study baseline characteristics

Background: The coronary risk in diabetes (CoRDia) trial (n = 211) compares the effectiveness of usual diabetes care with a self-management intervention (SMI), with and without personalised risk information (including genetics), on clinical and behavioural outcomes. Here we present an assessment of randomisation, the cardiac risk genotyping assay, and the genetic characteristics of the recruits. / Methods: Ten-year coronary heart disease (CHD) risk was calculated using the UKPDS score. Genetic CHD risk was determined by genotyping 19 single nucleotide polymorphisms (SNPs) using Randox’s Cardiac Risk Prediction Array and calculating a gene score (GS). Accuracy of the array was assessed by genotyping a subset of pre-genotyped samples (n = 185). / Results: Overall, 10-year CHD risk ranged from 2–72 % but did not differ between the randomisation groups (p = 0.13). The array results were 99.8 % concordant with the pre-determined genotypes. The GS did not differ between the Caucasian participants in the CoRDia SMI plus risk group (n = 66) (p = 0.80) and a sample of UK healthy men (n = 1360). The GS was also associated with LDL-cholesterol (p = 0.05) and family history (p = 0.03) in a sample of UK healthy men (n = 1360). / Conclusions: CHD risk is high in this group of T2D subjects. The risk array is an accurate genotyping assay, and is suitable for estimating an individual’s genetic CHD risk. / Trial registration: This study has been registered at ClinicalTrials.gov; registration identifier NCT0189178

Clinical utility of a coronary heart disease risk prediction gene score in UK healthy middle aged men and in the Pakistani population

8 Sep 2015: Beaney KE, Cooper JA, Ullah Shahid S, Ahmed W, Qamar R, et al. (2015) Correction: Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population. PLOS ONE 10(9): e0139651. https://doi.org/10.1371/journal.pone.0139651© 2015 Beaney et al. Background: Numerous risk prediction algorithms based on conventional risk factors for Coronary Heart Disease (CHD) are available but provide only modest discrimination. The inclusion of genetic information may improve clinical utility. Methods: We tested the use of two gene scores (GS) in the prospective second Northwick Park Heart Study (NPHSII) of 2775 healthy UK men (284 cases), and Pakistani case-control studies from Islamabad/Rawalpindi (321 cases/228 controls) and Lahore (414 cases/219 controls). The 19-SNP GS included SNPs in loci identified by GWAS and candidate gene studies, while the 13-SNP GS only included SNPs in loci identified by the CARDIoGRAMplusC4D consortium. Results: In NPHSII, the mean of both gene scores was higher in those who went on to develop CHD over 13.5 years of follow-up (19-SNP p=0.01, 13-SNP p=7x10-3). In combination with the Framingham algorithm the GSs appeared to show improvement in discrimination (increase in area under the ROC curve, 19-SNP p=0.48, 13-SNP p=0.82) and risk classification (net reclassification improvement (NRI), 19-SNP p=0.28, 13-SNP p=0.42) compared to the Framingham algorithm alone, but these were not statistically significant. When considering only individuals who moved up a risk category with inclusion of the GS, the improvement in risk classification was statistically significant (19-SNP p=0.01, 13-SNP p=0.04). In the Pakistani samples, risk allele frequencies were significantly lower compared to NPHSII for 13/19 SNPs. In the Islamabad study, the mean gene score was higher in cases than controls only for the 13-SNP GS (2.24 v 2.34, p=0.04). There was no association with CHD and either score in the Lahore study. Conclusion: The performance of both GSs showed potential clinical utility in European men but much less utility in subjects from Pakistan, suggesting that a different set of risk loci or SNPs may be required for risk prediction in the South Asian population.KEB is supported by a Medical Research Council CASE award (1270920) with Randox Laboratories. SUS is supported by Higher Education Commisson Pakistan (IRSIP 24 BMS 41). SEH is a British Heart Foundation Professor and he and JAC are supported by the British Heart Foundation (RG008/08) and by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. NPHSII was supported by the British Medical Research Council, the US National Institutes of Health [grant number NHLBI 33014] and Du Pont Pharma, Wilmington Delaware

Decompressive cervical laminectomy and lateral mass screw-rod arthrodesis. Surgical analysis and outcome

<p>Abstract</p> <p>Background</p> <p>This study evaluates the outcome and complications of decompressive cervical Laminectomy and lateral mass screw fixation in 110 cases treated for variable cervical spine pathologies that included; degenerative disease, trauma, neoplasms, metabolic-inflammatory disorders and congenital anomalies.</p> <p>Methods</p> <p>A retrospective review of total 785 lateral mass screws were placed in patients ages 16-68 years (40 females and 70 males). All cases were performed with a polyaxial screw-rod construct and screws were placed by using Anderson-Sekhon trajectory. Most patients had 12-14-mm length and 3.5 mm diameter screws placed for subaxial and 28-30 for C1 lateral mass. Screw location was assessed by post operative plain x-ray and computed tomography can (CT), besides that; the facet joint, nerve root foramen and foramen transversarium violation were also appraised.</p> <p>Results</p> <p>No patients experienced neural or vascular injury as a result of screw position. Only one patient needed screw repositioning. Six patients experienced superficial wound infection. Fifteen patients had pain around the shoulder of C5 distribution that subsided over the time. No patients developed screw pullouts or symptomatic adjacent segment disease within the period of follow up.</p> <p>Conclusion</p> <p>decompressive cervical spine laminectomy and Lateral mass screw stabilization is a technique that can be used for a variety of cervical spine pathologies with safety and efficiency.</p

ICAR: endoscopic skull‐base surgery

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Methods for quick, accurate and cost-effective determination of the type 1 diabetes genetic risk score (T1D-GRS) - dataset

Genotypes of 10 SNPs used to calculate the T1D-GRS in 300 samples and by use of three different techniques; Sanger sequencing, KASP chemistry and Randox BiochipThis is the dataset used for the Locke et al. (2019) article "Methods for quick, accurate and cost-effective determination of the type 1 diabetes genetic risk score (T1D-GRS)" published in Clinical Chemistry and Laboratory Medicine. Wellcome TrustDiabetes U

Correction: Clinical utility of a coronary heart disease risk prediction gene score in UK healthy middle aged men and in the Pakistani population PLoS ONE 10 (7). doi: 10.1371/journal.pone.0130754

The image for Fig 2 is incorrect