The hepcidin gene promoter nc.-1010C > T; −582A > G haplotype modulates serum ferritin in individuals carrying the common H63D mutation in HFE gene

Hereditary hemochromatosis is an autosomal recessive disorder characterized by severe iron overload. It is usually associated with homozygosity for the HFE gene mutation c.845G > A; p.C282Y. However, in some cases, another HFE mutation (c.187C > G; p.H63D) seems to be associated with the disease. Its penetrance is very low, suggesting the possibility of other iron genetic modulators being involved. In this work, we have screened for HAMP promoter polymorphisms in 409 individuals presenting normal or increased serum ferritin levels together with normal or H63D-mutated HFE genotypes. Our results show that the hepcidin gene promoter TG haplotype, originated by linkage of the nc.-1010C > T and nc.-582A > G polymorphisms, is more frequent in the HFE_H63D individuals presenting serum ferritin levels higher than 300 μg/L than in those presenting the HFE_H63D mutation but with normal serum ferritin levels or in the normal control group. Moreover, it was observed that the TG haplotype was associated to increased serum ferritin levels in the overall pool of HFE_H63D individuals. Thus, our data suggest that screening for these polymorphisms could be of interest in order to explain the phenotype. However, this genetic condition seems to have no clinical significance.     

The role of socioeconomic status in the susceptibility to develop systemic lupus erythematosus in Mexican patients

Clinical Rheumatology - Systemic lupus erythematosus (SLE) is an autoimmune inflammatory disorder for which Major Histocompatibility Complex (MHC) genes are well-identified as risk factors. SLE...     

Syndemic and syndemogenesis of low back pain in Latin-American population: a network and cluster analysis

Clinical Rheumatology - Although low back pain (LBP) is a high-impact health condition, its burden has not been examined from the syndemic perspective. To compare and assess clinical,...     

Epicardial delivery of collagen patches with adipose-derived stem cells in rat and minipig models of chronic myocardial infarction

Although transplantation of adipose-derived stem cells (ADSC) in chronic myocardial infarction (MI) models is associated with functional improvement, its therapeutic value is limited due to poor long-term cell engraftment and survival. Thus, the objective of this study was to examine whether transplantation of collagen patches seeded with ADSC could enhance cell engraftment and improve cardiac function in models of chronic MI. With that purpose, chronically infarcted Sprague–Dawley rats (n = 58) were divided into four groups and transplanted with media, collagen scaffold (CS), rat ADSC, or CS seeded with rat ADSC (CS-rADSC). Cell engraftment, histological changes, and cardiac function were assessed 4 months after transplantation. In addition, Göttingen minipigs (n = 18) were subjected to MI and then transplanted 2 months later with CS or CS seeded with autologous minipig ADSC (CS-pADSC). Functional and histological assessments were performed 3 months post-transplantation. Transplantation of CS-rADSC was associated with increased cell engraftment, significant improvement in cardiac function, myocardial remodeling, and revascularization. Moreover, transplantation of CS-pADSC in the pre-clinical swine model improved cardiac function and was associated with decreased fibrosis and increased vasculogenesis. In summary, transplantation of CS-ADSC resulted in enhanced cell engraftment and was associated with a significant improvement in cardiac function and myocardial remodeling.     

Physiological and Brain Activity After a Combined Cognitive Behavioral Treatment Plus Video Game Therapy for Emotional Regulation in Bulimia Nervosa: A Case Report

Background

PlayMancer is a video game designed to increase emotional regulation and reduce general impulsive behaviors, by training to decrease arousal and improve decision-making and planning. We have previously demonstrated the usefulness of PlayMancer in reducing impulsivity and improving emotional regulation in bulimia nervosa (BN) patients. However, whether these improvements are actually translated into brain changes remains unclear.

Objective

The aim of this case study was to report on a 28-year-old Spanish woman with BN, and to examine changes in physiological variables and brain activity after a combined treatment of video game therapy (VGT) and cognitive behavioral therapy (CBT).

Methods

Ten VGT sessions were carried out on a weekly basis. Anxiety, physiological, and impulsivity measurements were recorded. The patient was scanned in a 1.5-T magnetic resonance scanner, prior to and after the 10-week VGT/CBT combined treatment, using two paradigms: (1) an emotional face-matching task, and (2) a multi-source interference task (MSIT).

Results

Upon completing the treatment, a decrease in average heart rate was observed. The functional magnetic resonance imaging (fMRI) results indicated a post-treatment reduction in reaction time along with high accuracy. The patient engaged areas typically active in healthy controls, although the cluster extension of the active areas decreased after the combined treatment.

Conclusions

These results suggest a global improvement in emotional regulation and impulsivity control after the VGT therapy in BN, demonstrated by both physiological and neural changes. These promising results suggest that a combined treatment of CBT and VGT might lead to functional cerebral changes that ultimately translate into better cognitive and emotional performances.     

Organic–inorganic hybrid sol–gel materials doped with a fluorescent triarylimidazole derivative

The development of sensors for pH monitoring is of extreme importance in the monitoring of concrete and reinforced concrete structures. Imidazole derivatives are promising probes for pH sensing due to the amphoteric nature of their heterocyclic ring, which can be protonated/deprotonated upon pH changes. In this work, a triarylimidazole was synthesised and used as a dopant in an organic–inorganic hybrid (OIH) sol–gel matrix to obtain a pH-sensitive membrane for further application in optical fibre sensors (OFS). The triarylimidazole probe shows fluorimetric response in pH between 9 and 13, which is the desired range for monitoring carbonation of concrete. This degradation process lowers the highly alkaline pH of concrete (12.5–13) to values below 9, which creates favourable conditions for corrosion of concrete reinforcement. The OIH membranes used were based on Jeffamine THF170 and 3-glycidoxypropytrimethoxysilane precursors, which had already been shown to be suitable and resistant in contact with cement-based materials. The OIHs were doped with three different contents of the triarylimidazole and the structural, dielectric, thermal and optical properties of the pure and doped OIH materials were evaluated. The structural analysis showed that the presence of the triarylimidazole did not change the structural properties of the OIH material. Electrochemical impedance spectroscopy showed that in the doped samples the conductivity increased with the imidazole concentration. The ε_r obtained for the doped samples ranged approximately from 11 to 19 and for the pure matrices was 8. Thermal analysis showed that these materials are stable up to 350 °C and that the presence of the probe did not change that feature. The optical properties showed that the prepared OIH materials have promising properties to be used as pH sensitive fluorimetric probes.

OIH sol–gel materials based on Jeffamine THF-170 and GPTMS, doped with triarylimidazole, were synthesized. The ε_r obtained for the OIH doped samples ranged between 11 and 19. The OIHs are thermally stable for fresh concrete purposes.