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.

Interés del uso clínico del tensor de difusión en la planificación del tratamiento rehabilitador en pacientes tras el primer ictus / Importance of the clinical use of the diffusion tensor in planning rehabilitation treatment in patients after the first stroke

Objetivo. Contrastar la utilidad predictiva de la RM en la modalidad del tensor de difusión (TD) en una muestra de pacientes que han presentado un ictus. Material y método. Estudio prospectivo sobre 7 pacientes de ambos sexos, ingresados para tratamiento rehabilitador intensivo tras primer episodio de ictus isquémico. Protocolo: 1) Valoración habilidades motoras: índice motor, prueba de control de tronco; 2) Capacidad de la marcha: functional assessment categories y capacidad funcional: índice de Barthel y Functional Independence Measure (FIM); 3) Estudio tractográfico: media y desviación estándar de fracción de anisotropía (FA) y coeficiente de difusión (CDA) aparente en cápsula interna, corona radiata y tracto protuberancial derecho e izquierdo; y 4) Estudio estadístico: representación de las relaciones 2 a 2 entre todas las variables en estudio, y comprobación de cada posible relación con modelo de regresión simple (lineal o logístico). Se han incluido resultados con un valor de p menor de 0,2. Resultados. Las relaciones con significatividad 2 a 2 son: 1) índice motor de la extremidad superior y FA en el tracto protuberancial; 2) índice motor de la extremidad inferior y la FA a nivel de la corona radiata; 3) FIM motor y cognitivo con el CDA aparente a nivel de la corona radiata; 4) FIM motor y cognitivo con la FA en el tracto protuberancial; 5) FIM cognitivo y la FA a nivel de la corona radiata; 6) FIM total con la FA en la cápsula interna; y 7) tracto protuberancial, así como con el CDA en el tracto protuberancial. Los resultados representan las conclusiones preliminares del empleo del TD en una muestra reducida de pacientes atendidos en una unidad de neurorrehabilitación en los que consideramos de utilidad el uso del TD en la predicción evolutiva del ictus (AU)

Objective. To compare the predictive value of the MR diffusion tensor (DT) imaging modality in a sample of stroke patients. Material and method. A prospective study was conducted on 7 inpatient subjects of both genders who were undergoing intensive rehabilitation after a first ischemic stroke. The protocol included: 1) motor skills evaluation by Motor Index, Trunk Control Test; 2) Walking capacity: functional assessment categories and functional capacity: Barthel Index and Functional Independence Measure (FIM); 3) Tractography study: mean and standard deviation for fractional anisotropy (FA) and apparent diffusion coefficient (ADC) in internal capsule, corona radiata and right and left pontine tract; 4) Statistical analysis: projection of the data into a two-dimensional scatterplot matrix; verification of every possible link with a simple regression model (linear or logistic). Results with P-value <0.2 are included. Results. The relations with two pairs of variables that are significant are: 1) upper extremity motor skill and FA values in the pontine tract; 2) lower extremity motor skill and FA values at the corona radiate; 3) motor and cognitive FIM with ADC at the corona radiate; 4) motor and cognitive FIM with FA in the pontine tract; 5) Cognitive FIM and FA at the corona radiate; 6) FIM total and FA at the internal capsule and pontine tract and, 7) total FIM and ADC in the pontine tract. The results represent the preliminary findings of the use of DT in a small sample of stroke patients in a neurorehabilitation unit. We consider DT to be useful in the evolutive prediction of stroke (AU)