Genome-wide DNA methylation profiling in anorexia nervosa discordant identical twins.

Up until now, no study has looked specifically at epigenomic landscapes throughout twin samples, discordant for Anorexia nervosa (AN). Our goal was to find evidence to confirm the hypothesis that epigenetic variations play a key role in the aetiology of AN. In this study, we quantified genome-wide patterns of DNA methylation using the Infinium Human DNA Methylation EPIC BeadChip array ("850 K") in DNA samples isolated from whole blood collected from a group of 7 monozygotic twin pairs discordant for AN. Results were then validated performing a genome-wide DNA methylation profiling using DNA extracted from whole blood of a group of non-family-related AN patients and a group of healthy controls. Our first analysis using the twin sample revealed 9 CpGs associated to a gene. The validation analysis showed two statistically significant CpGs with the rank regression method related to two genes associated to metabolic traits, PPP2R2C and CHST1. When doing beta regression, 6 of them showed statistically significant differences, including 3 CpGs associated to genes JAM3, UBAP2L and SYNJ2. Finally, the overall pattern of results shows genetic links to phenotypes which the literature has constantly related to AN, including metabolic and psychological traits. The genes PPP2R2C and CHST1 have both been linked to the metabolic traits type 2 diabetes through GWAS studies. The genes UBAP2L and SYNJ2 have been related to other psychiatric comorbidity.

Intensified blood glucose treatment in diabetic patients undergoing a liver transplant: impact on graft evolution at 3 months and at 5 years.

PURPOSE: The debate about the impact of intensified hyperglycemia treatment is still ranging. The main objective was to assess whether intensive glycemic control in hospitalized diabetic patients undergoing a liver transplant is associated with a lower rate of graft rejection at 3 months and at 5 years post-transplant. METHODS: Cross-sectional study comparing a cohort of patients undergoing liver transplant in 2010 and 2011, in whom an intensive insulin protocol was applied, with a retrospective group of patients undergoing a liver transplant in 2005 and 2006, in whom a conventional insulin protocol was applied. Both diabetics and non-diabetics were compared. As intensive insulin therapy is applied mainly in diabetic patients, it is expected that, when comparing both periods, the treatment would only benefit those patients. RESULTS: The logistic regression model showed a statistically significant interaction between the treatment group and the presence of diabetes for the rejection rate 3 months and 5 years post-transplant. At both time points, the intensive insulin treatment group had lower rejection rates in the case of diabetic patients, which did not occur in non-diabetic patients. CONCLUSIONS: Our study shows a decrease in the rate of liver graft rejection in diabetic patients undergoing intensive insulin treatment.

Adaptation and validation of the Spanish self-report version of the Spinal Cord Independence Measure (SCIM III).

STUDY DESIGN: This is a cross-sectional validation study. OBJECTIVE: The objective of this study was to adapt and validate a self-report version of the Spinal Cord Independence Measure (SCIM III) for the Spanish population. METHODS: A cross-cultural adaptation of the self-report version of the SCIM III for the Spanish population was performed on the basis of international guidelines. A total of 100 patients with spinal cord injury (SCI) were recruited. A team of healthcare professionals administered the SCIM III by observation. In addition, the patients completed the Spanish self-report version (eSCIM-SR). Data from both questionnaires were analysed jointly. RESULTS: A high correlation was observed between SCIM III and eSCIM-SR. Lin's concordance correlation coefficient for the global score was 0.998 (95% confidence interval: 0.997, 0.998), and the subscale scores were 0.988 (0.982, 0.992) for self-care, 0.992 (0.988, 0.995) for respiration and sphincter management and 0.997 (0.995, 0.998) for Mobility. Bland-Altman plots showed a small bias of -0.32 (95% limits of agreement: -3.01, 2.37). The estimated bias was low in all three domains, with values of -0.22 (-2.12, 1.68), -0.1 (-2.02, 1.82) and -0.03 (-1.69, 1.63) for the self-care, respiration and sphincter management and mobility subscales, respectively. CONCLUSION: Our study validates the eSCIM-SR as a tool for the functional assessment of patients with SCI, principally in the outpatient setting.