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Background: Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms have been associated with overweight people and obesity. The goal of this study was to investigate the relationship of the MTHFR 677C>T polymorphism with obesity and biochemical variables in young individuals of Mexico. Methods: A total of 316 young individuals were included in the study, 172 with normal weight (NW) and 144 with overweight/obesity. Body mass index (BMI) was classified as NW, overweight, and obesity. Also, waist circumference was measured. Moreover, glucose, total cholesterol, and triglycerides were determined. Genotyping for MTHFR 677C>T polymorphism was performed by the PCR-RFLP method. Results: There was no difference in the distribution of the MTHFR 677C>T polymorphism between individuals with NW and overweight/obesity; neither when they were divided by overweight vs NW, nor when we contrasted obese vs NW. However, an analysis stratified by gender showed a significant protector effect of the T T genotype against obesity in males and elevated waist circumference in females. Also, overweight/obese individuals with TT genotype had less risk of high cholesterol or triglycerides than overweight/obese subjects with the other genotypes. Conclusions: These results suggest that the MTHFR 677T polymorphism might not be a risk factor for being overweight/obesity. Rather, on the basis of our results, this variant could be a protector effect. However, further largescale population-based studies are still necessary to clarify the role of the MTHFR 677C>T polymorphism in overweight, obesity, and lipid profile level.

This article is a letter written by Verónica Judith Picos-Cárdenas, Evelia Leal-Ugarte, and Juan Pablo Meza-Espinoza in response to a case report titled "An extremely rare case report of aphallia with horseshoe kidney and ureterohydronephrosis." The authors express their interest in the case and provide some comments on the discussion section of the report. They point out some inaccuracies and inconsistencies in the information presented, such as the classification of urethral openings and the association of aphallia with horseshoe kidney. The authors believe that these observations are important to ensure accurate information for students reading such articles. [Extracted from the article]

Colorectal cancer (CRC) is the third most common cancer and one of the main causes of death around the world. Multiple lines of evidence have suggested the role of the corticotropin-releasing hormone (CRH) family in CRC induction, including the low expression of corticotropin-releasing hormone receptor 2 (CRHR2), which is an angiogenesis inhibitor and inflammatory modulator. Previous research suggests that CRHR2 expression in colonic intestinal cells can regulate migration, proliferation and apoptosis through the modulation of several pathways. The aim of this study was to analyze the association of the rs10250835, rs2267716 and rs2267717 variants of CRHR2 gene with CRC in the Mexican population in order to consider its predictive value in CRC. This cross-sectional study included a group of 187 unrelated patients with sporadic CRC and a control group of 191 healthy blood donors. DNA extraction from peripheral blood was carried out using the Miller method. Identification of the rs10250835 variant was performed using PCR-restriction fragment length polymorphism (RFLP) and the rs2267716 and rs2267717 variants using TaqMan allelic discrimination assay. The minor allele homozygous CC of the rs2267716 variant of CRHR2 showed significant difference between CRC and control group (p=0.025), as well as the GCA haplotype (p=0.007), corresponding to the rs10250835, rs2267716 and rs2267717 variants, respectively. Our results suggest that the rs2267716 variant and GCA haplotype of CRHR2 represent a risk factor for CRC development in Mexican patients. [ABSTRACT FROM AUTHOR]

Abstract Introduction Beckwith–Wiedemann syndrome is an overgrowth syndrome that is characterized by hypoglycemia at birth, coarse face, hemihypertrophy and an increased risk to develop embryonal tumors. In approximately 15% of patients, the inheritance is autosomal dominant with variable expressivity and incomplete penetrance, whereas the remainder of Beckwith–Wiedemann syndrome cases are sporadic. Beckwith–Wiedemann syndrome molecular etiologies are complex and involve the two imprinting centers 1 (IC1) and 2 (IC2) of 11p15 region. This case report describes, for the first time, the unusual association of ovotesticular disorder in a patient from Morelia, Mexico with Wiedemann-Beckwith syndrome. Case presentation We report the case of a Mexican six-year-old girl with Beckwith–Wiedemann Syndrome, ambiguous genitalia, and bilateral ovotestes. She has a 46,XX karyotype without evidence of Y-chromosome sequences detected by fluorescence in situ hybridization with both SRY and wcp-Y probes. Conclusion Although a random association between these two conditions cannot be excluded, future analysis of this patient with Beckwith–Wiedemann syndrome and 46,XX ovotesticular disorder may lead to new insights into these complex pathologies. We speculate that a possible misregulation in the imprinted genes network has a fundamental role in the coexistence of these two disorders.

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Introduction: Colorectal cancer (CRC) is a complex disease due to the large number of factors that influence its development, including variants in tumor suppressor genes., Objective: To estimate allelic and genotypic frequencies of c.3915G>A and c.5371G>A variants of the TSC2 gene in a Mexican population with CRC, as well as to analyze their association with the development of CRC., Methods: 126 peripheral blood samples from patients diagnosed with sporadic CRC and 134 from healthy individuals, regarded as the control group, were included. Identification of genotypes was carried out using traditional PCR and enzymatic digestion. All individuals signed an informed consent letter., Results: The A allele of the c.3915G>A variant (OR = 0.31, 95% CI = 0.15-0.69, p = 0.004), as well as A/G haplotype of the c.3915G>A and c.5371G>A variants (OR = 0.28, 95% CI = 0.12-0.68, p = 0.005) showed a possible protective effect against sporadic CRC. In silico analysis indicated that both variants generate modifications in the splicing process., Conclusion: The presence of TSC2 gene c.3915G>A variant suggests a possible protective effect against sporadic CRC in the Mexican population; however, no association was observed with the c.5371G>A variant., (Copyright: © 2022 Permanyer.)

Background: As a result of their high prevalence, mayor depressive disorder single episode (MDDSE); major depressive disorder recurrent episodes (MDDREC); and dysthymia are considered an important public health problem. The objective of this paper was to identify and correlate environmental factors in patients with MDDSE, MDDREC and dysthymia., Methods: 121 patients from the Instituto Mexicano del Seguro Social's Subzone General Hospital of San Andres Tuxtla, at Veracruz, were questioned by history with the risk variables., Results: 16 of them were diagnosed with MDDREC, 72 with MDD and 33 with dysthymia; in all of those cases, females prevailed. Depressive disorders were observed more frequently in people over 40 years, married, with medium or low educational level, with dysfunctional family environment, victims of family violence and who were the middle siblings. The main comorbidities that arose were gastrointestinal disorders, obesity and hypertension., Results: 16 of them were diagnosed with MDDREC, 72 with MDD and 33 with dysthymia; in all of those cases, females prevailed. Depressive disorders were observed more frequently in people over 40 years, married, with medium or low educational level, with dysfunctional family environment, victims of family violence and who were the middle siblings. The main comorbidities that arose were gastrointestinal disorders, obesity and hypertension., Conclusions: The main risk factors identified for developing depressive disorders were: being female, over 40 years old and being married. The differences obtained in this study, if it is compared with others, are probably due to sample size, selection criteria and ethnic origin.

Leptin and adiponectin are cytokines produced by adipose tissue with opposite effects on tumor growth: the former stimulate whereas the latter inhibit it. The objective was to analyze the association of LEP A19G and ADIPOQ+45 T/G and +276 G/T polymorphisms in Mexican patients with colorectal cancer (CRC). 68 unrelated patients with CRC (study group) and 102 blood donors (control group); all subjects were Mestizos from western Mexico. The polymorphisms were established by PCR-RFLP on DNA samples obtained from peripheral blood. The LEP A19G polymorphism showed significant differences between CRC patients and control group (p= 0.01 for G/A genotype and p= 0.02 for the recessive model G/G +G/A); yet, in the analysis stratified by gender, this difference remained significant only in males. The ADIPOQ polymorphisms did not shown any significant differences. Our results suggest that the A19G LEP polymorphism is associated with CRC in Mexican patients.

Neurogenic diabetes insipidus (NDI) is a rare condition characterized by polyuria and polydipsia caused by deficient arginine vasopressin hormone production. More than a 50 mutations have been identified for familial autosomic dominant neurogenic diabetes insipidus (FadNDI). These mutations can cause citotoxicity and lead to the degeneration of magnocellular neurons of the hipofisis by aberrant protein accumulation. The NDI diagnosis is based on the water deprivation test, quantification of AVP hormone and Magnetic Resonance Image (MRI), and in families with history of FadNDI has been suggested the molecular analysis of mutation in the arginine vasopressin neurophisin II gene before the signs and symptoms development, with the purpose of offering a suitable diagnosis, clinical follow up and treatment. The treatment with a synthetic analogue of AVP hormone allows the remission of the signs and symptoms in NDI patients and the advances in gene therapy in animal models has been promising, as much for NDI as for other diseases in which the mutant protein production has been involved.