Building national patient registries in Mexico: insights from the MexOMICS Consortium.

Objective: To introduce MexOMICS, a Mexican Consortium focused on establishing electronic databases to collect, cross-reference, and share health-related and omics data on the Mexican population. Methods: Since 2019, the MexOMICS Consortium has established three electronic-based registries: the Mexican Twin Registry (TwinsMX), Mexican Lupus Registry (LupusRGMX), and the Mexican Parkinson's Research Network (MEX-PD), designed and implemented using the Research Electronic Data Capture web-based application. Participants were enrolled through voluntary participation and on-site engagement with medical specialists. We also acquired DNA samples and Magnetic Resonance Imaging scans in subsets of participants. Results: The registries have successfully enrolled a large number of participants from a variety of regions within Mexico: TwinsMX (n = 2,915), LupusRGMX (n = 1,761) and MEX-PD (n = 750). In addition to sociodemographic, psychosocial, and clinical data, MexOMICS has collected DNA samples to study the genetic biomarkers across the three registries. Cognitive function has been assessed with the Montreal Cognitive Assessment in a subset of 376 MEX-PD participants. Furthermore, a subset of 267 twins have participated in cognitive evaluations with the Creyos platform and in MRI sessions acquiring structural, functional, and spectroscopy brain imaging; comparable evaluations are planned for LupusRGMX and MEX-PD. Conclusions: The MexOMICS registries offer a valuable repository of information concerning the potential interplay of genetic and environmental factors in health conditions among the Mexican population.

Vitamin D status, proinflammatory cytokines and bone mineral density in Mexican people with multiple sclerosis.

BACKGROUND: Vitamin D (VD) has been classically associated with calcium homeostasis and bone mineral density since it has a key role on mineralization and resorption. Immunomodulatory effects have been attributable to VD; low concentrations of VD have been associated with elevation of inflammatory markers. Inflammatory autoimmune diseases, such as multiple sclerosis (MS), a chronic neurodegenerative suffering, whose etiology is still unknown, is directly related to an increase in pro-inflammatory cytokines such as interleukin 17 and interleukin 1ß who play an important role in this physiopathology. Nowadays, even though additional studies have linked MS's clinical signs with low VD concentration, there is scarce information of this association in people from regions with sufficient sun exposure. The aim of this study was to evaluate serum VD and cytokine concentrations, and bone density, in Mexican people with MS. METHODS: Vitamin D (25OHD), interleukin 1ß, interleukin 6 and interleukin 17 concentrations of twenty-five volunteers with MS were determined by enzyme-linked immunosorbent assay. Bone mineral density and body composition assessment was performed by dual energy X-Ray absorptiometry. RESULTS: A mean concentration of 17.3 ± 4.6 ng/ml of 25OHD was obtained, in a range of 5.15 to 25.71 ng/ml; when international advisory bodies thresholds were applied 76% of the participants exhibited some degree of VD inadequacy. Pro-inflammatory markers were detectable among the participants: interleukin 1ß in 100%, interleukin 6 in 64%, whereas interleukin 17 was found in 24% of the volunteers. Bone mineral density below the expected for the age was found in 8% of the participants, with lumbar spine as the most affected anatomic region. Non-significant correlations were found between VD and bone mineral density (Z-score) or pro-inflammatory markers. CONCLUSION: Although non-significant correlations were found between VD and bone mineral density or cytokines, it is important to highlight that an important percentage of our participants exhibited some degree of VD inadequacy, an unknown fact for them, since these are not included in routine clinical evaluations. The low concentrations of VD among this sample regardless of annual UVB sun exposure may suggest the involvement of endogenous and not environmental factors. Further works are needed in order to deepen the physiological causes and effects of VD deficiency in people with MS.

Lipid profile: causal relationship on cognitive performance in multiple sclerosis?

Although cognitive impairment (CI) is classically associated with aging, it has been proposed that neurological pathologies may increase the risk to suffer CI. Despite the evidence of an elevated prevalence of CI in patients with multiple sclerosis (MS), it is not considered among standard clinical evaluations, due the lack of specialists and time required. The aim of this study was to evaluate if lipid profile is associated with cognitive performance in persons with MS. Twenty patients with MS were evaluated. Montreal Cognitive Assessment (MoCA) was employed to determine cognitive performance. CI was observed in 85% of patients, with memory recall and language as the most affected domains. Despite biomarkers were mostly found within reference values, several correlations were observed. MoCA total score was correlated with cholesterol (r = - 0.468, p = 0.037) and LDL (r = - 0.453, p = 0.045). Visuospatial domain was correlated with LDL (r = - 0.493, p = 0.027). Attention domain correlated with triglycerides (r = - 0.455, p = 0.044) and cholesterol (r = - 0.549, p = 0.012). When the person reaches borderline levels of triglycerides, LDL and cholesterol a decrease in cognitive performance can be observed. The mechanism underlying this association has not been established still, it has been proposed that it could be linked with neuroinflammation, alterations in synapses and in the metabolism of amyloid-ß protein. This study settles the potential importance that lipid profile could have on cognitive performance in MS. Further studies are needed to establish optimal levels and implication of lipid profile in the diagnosis and monitoring of cognitive performance in Mexican people with MS.

Coping strategies and quality of life in Mexican multiple sclerosis patients: Physical, psychological and social factors relationship.

BACKGROUND: Multiple sclerosis (MS) is one of the principal causes of non-traumatic neurological disability among young adults. The unpredictable and progressive evolution of multiple sclerosis is associated with a decline in physical and psychological health, affecting quality of life, which may be influenced by additional physical and psycho-social factors. OBJECTIVE: The present investigation aims to evaluate the quality of life (QoL), use of coping strategies and their relationship with other physical and psycho-social factors among 26 Mexican persons with MS. METHODS: Eight questionnaires were administrated for evaluation of the additional psycho-social and physical factors, including quality of life, coping strategies, social support system, family functionality, depression and anxiety prevalence. RESULTS: Results showed that the use of positive coping strategies (84.6% of our population) improve QoL perception (r = 0.396, p = 0.045) and the following domains: physical health (r = 0.514, p = 0.009), psychological health (r = 0.516, p = 0.008), social relationships (r = 0.654, p = 0.000) and environment (r = 0.600, p = 0.002). Negative correlations were observed between QoL and the presence of symptoms of both depression (r = -0.557, p = 0.003) and anxiety (r = -0.517, p = 0.007). A multiple linear regression model showed that QoL can be explained by physical and psycho-social factor in 54.6% of the cases that were evaluated. CONCLUSION: The use of positive coping strategies in conjunction with a suitable psycho-social environment and good physical health result in a better perception of QoL in Mexican patients living with MS. Still, the negative factors are ineffectively diagnosed and hence generally under treated in medical MS monitoring. An interdisciplinary evaluation will provide the adequate tools to confront the diagnosis and the uncertainty of multiple sclerosis evolution, benefiting the QoL of Mexican patients with MS.