Nory Omayra Dávalos-Rodríguez

Cantu syndrome and lymphoedema

Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as observed in two of the patients described here, has been observed in 11.5% of patients with Cantu syndrome and that heterochromia iridis, observed in one patient, is probably a new feature of this condition.

Molecular Heterogeneity of Type 2 Diabetes Mellitus in Mexican Populationand its Impact of the Public Health on Policies in Primary Care

Type 2 diabetes mellitus is a complex disease and a global health problem; hence the first level of health care should handle the approaches of medical genetics to reduce its incidence. In this manuscript we present perspectives of the study of genomic medicine carried out in Mexican population, which show a molecular heterogeneity according to the studied population. Genes currently associated to diabetes are fifty, including ABCA1, APOE, BGLAP, LRP2, CYP19A1, hIAPP, SCARB1, TCF7L2, TNFA. Up to date there are no variants related to diabetes mellitus in the HNF1β, INS, and NEUROD1 among other genes. In relation to chronic complications of DM2, the genes ACE, ADRB3, APOE, CUBN, hANP, LRP2 and HPSE are analyzed.

Alta frecuencia del alelo ancestral del polimorfismo rs2291166 de TJP1 en población mexicana, efecto conformacional así como las aplicaciones en cirugía y medicina

BACKGROUND TJP1 gene encodes a ZO-1 protein that is required for the recruitment of occludins and claudins in tight junction, and is involved in cell polarisation. It has different variations, the frequency of which has been studied in different populations. In Mexico there are no studies of this gene. These are required because their polymorphisms can be used in studies associated with medicine and surgery. Therefore, the aim of this study was to estimate the frequency of alleles and genotypes of rs2291166 gene polymorphism TJP1 in Mexico Mestizos population, and to estimate the conformational effect of an amino acid change. MATERIAL AND METHODS A total of 473 individuals were included. The rs2291166 polymorphism was identified PASA PCR-7% PAGE, and stained with silver nitrate. The conformational effect of amino acid change was performed in silico, and was carried out with servers ProtPraram Tool and Search Database with Fasta. RESULTS The most frequent allele in the two populations is the ancestral allele (T). A genotype distribution similar to other populations was found. The polymorphism is in Hardy-Weinberg, p>0.05. Changing aspartate to alanine produced a conformational change. CONCLUSIONS The study reveals a high frequency of the ancestral allele at rs2291166 polymorphism in the Mexican population.