A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases.

The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Infantile onset is a rare presentation that only has been reported in four instances in the literature. In the present work a boy aged 5 years 7 months was studied due to horizontal gaze-evoked nystagmus, without saccades, ataxic gait, dysarthria, dysphagia, dysmetria, generalized spasticity mainly pelvic, bilateral Babinsky. The mother aged 27 years-old presented progressive cerebellar ataxia, dysarthria, dysmetria, dysdiadochokinesis, limb ataxia and olivopontocerebellar atrophy. The molecular analysis was made by identifying the expansion repeats in tandem by long PCR to analyze the repeats in the ATXN2 gene. We found an extreme CAG expansion repeats of ~884 repeats in the child. We describe a Mexican child affected by SCA2 with an infantile onset, associated with a high number of CAG repeats previously no reported and anticipation phenomenon.

Molecular Detection and Typing of Human Papillomavirus in Men from Northwestern Mexico.

BACKGROUND: A few studies of Human Papillomavirus (HPV) distribution and frequency have shown a real context of infection in men. The study aimed to know the HPV types distribution in men from Northwestern Mexico, in general, per age and year. METHODS: A total of 1,769 males were recruited from 5 years (2011-2015), from an HPV PCR testing laboratory service. Penile scraps from urethral meatus and coronal sulcus were taken for DNA isolation. There were detected 32 high and low-risk HPV types by HPV Type 3.5 LCD-Array system. RESULTS: A high frequency of HPV-6 and HPV-66 and a reduced frequency of HPV-18 and HPV-11 was detected. Young men had a high risk of HPV infection regarding men aged 40 years and older. The theoretical coverage for the HPV vaccine in men was calculated, where the bivalent vaccine showed coverage of 21.66% in high-risk HPV positive cases. CONCLUSION: The men from Northwestern Mexico have a different distribution of high and low-risk HPV types and high risk of HPV infection in younger men, with a theoretical coverage for HPV bivalent vaccine of 1 of 10 positive men for any HPV type.

The rs822396 Polymorphism of the ADIPOQ Gene Is Associated with Anthropometric, Clinical, and Biochemical Alterations Related to the Metabolic Syndrome in the Mexican Population.

Background: Adiponectin, encoded by the ADIPOQ gene, is produced mainly by adipose tissue, and meaning as a metabolic and immunological regulator. The polymorphism rs822396 in ADIPOQ gene was previously associated with diabetes mellitus type 2, hypertension, and metabolic syndrome components in Caucasian and Asiatic populations. The aim was to evaluate the association of the rs822396 polymorphism of the ADIPOQ gene with anthropometric, clinical, and biochemical alterations related to the metabolic syndrome in the Mexican population. Materials and Methods: Measurements, as well as peripheral blood for DNA extraction, were obtained from 434 participants from Mexico. The rs822396 polymorphism genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism. Statistical analysis was made with IBM-SPSSv20. Results: The rs822396G allele frequency was 22.1% in the Mexican population analyzed. In this study were detected differences according to G allele or GG genotype with the highest means, including body mass index (BMI), waist circumference (WC), body fat percentage, visceral fat, systolic arterial tension, glucose levels, triglyceride levels, total cholesterol (TC) levels, very low-density lipoprotein, alanine aminotransferase, and aspartate aminotransferase and with triglycerides/glucose index. Significant differences were found with increased risk in the dominant model (AG/GG) of anthropometric, clinical, and biochemical alterations with regard to metabolic syndrome as the BMI [odds ratio (OR) = 2.19], WC (OR = 2.00), waist/hip index (OR = 1.65), body fat percentage (OR = 2.76), visceral fat (OR = 1.84), glucose levels (OR = 1.95), triglyceride levels (OR = 2.75), TC levels (OR = 1.63), high-density lipoprotein (OR = 1.86), and insulin resistance surrogated by the Triglyceride/glucose index (OR = 2.64). Conclusion: The rs822396 polymorphism of the ADIPOQ gene seems to be a risk factor for obesity and metabolic alterations with regard to the metabolic syndrome in the Mexican population.

Association of RETN and CAP1 SNPs, Expression and Serum Resistin Levels with Breast Cancer in Mexican Women.

BACKGROUND: Breast cancer is the most common cancer in women worldwide. Approximately 70% of female breast cancer patients have a body mass index (BMI) >25. In obesity, adipose tissue secretes additional resistin, which prompts a proinflammatory effect through its action on adenylate cyclase-associated protein 1 (CAP1). Several studies have associated the RETN gene single nucleotide polymorphism (SNP) rs1862513 (-420C

PADI4 haplotypes in association with RA Mexican patients, a new prospect for antigen modulation.

Peptidyl arginine deiminase IV (PAD 4) is the responsible enzyme for a posttranslational modification called citrullination, originating the antigenic determinant recognized by anti-cyclic citrullinated peptide antibodies (ACPA). Four SNPs (single nucleotide polymorphisms) have been described in PADI4 gene to form a susceptibility haplotype for rheumatoid arthritis (RA); nevertheless, results in association studies appear contradictory in different populations. The aim of the study was to analyze if the presence of three SNPs in PADI4 gene susceptibility haplotype (GTG) is associated with ACPA positivity in patients with RA. This was a cross-sectional study that included 86 RA patients and 98 healthy controls. Polymorphisms PADI4_89, PADI4_90, and PADI4_92 in the PADI4 gene were genotyped. The susceptibility haplotype (GTG) was more frequent in RA patients; interestingly, we found a new haplotype associated with RA with a higher frequency (GTC). There were no associations between polymorphisms and high scores in Spanish HAQ-DI and DAS-28, but we did find an association between RARBIS index and PADI4_89, PADI4_90 polymorphisms. We could not confirm an association between susceptibility haplotype presence and ACPA positivity. Further evidence about proteomic expression of this gene will determine its participation in antigenic generation and autoimmunity.

Angiotensin-converting enzyme insertion/deletion and angiotensin type 1 receptor A1166C polymorphisms as genetic risk factors in benign prostatic hyperplasia and prostate cancer.

INTRODUCTION: Prostate cancer is one of the most common malignant neoplasias in developed countries. In 2003, 6,536 new cases and 4,602 related deaths were reported in Mexico. The renin-angiotensin system has been shown to play a role in prostate cancer pathology. Two previous studies investigated the association of prostate cancer with the insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene; both studies reported an association between prostate cancer and the DD genotype. The present study was aimed at searching for an association of prostate cancer and benign prostatic hyperplasia with the I/D polymorphism in the ACE gene and the A1166C polymorphism in the angiotensin type 1 receptor (AGT1R) gene and at comparing allele frequencies between both groups and the general population. MATERIALS AND METHODS: DNA was extracted from 20 samples from individuals with a prostate cancer diagnosis and from 20 samples from individuals with a benign prostatic hyperplasia diagnosis. Genotyping was performed by PCR-RFLP analysis. Polymorphism frequency results obtained for the test groups were compared with the frequencies in 66 individuals from the general population, which were previously obtained at the same molecular medicine laboratory in the context of other studies. RESULTS: The comparative analysis of the three groups revealed significant differences for allele frequencies in the two genes in patients groups (prostate cancer and benign prostatic hyperplasia) versus the general population. The D allele in the ACE gene was closely associated with a significant higher risk of developing both benign prostatic hyperplasia (odds ratio [OR]=21.87; 95% confidence interval [CI]=2.314-206.479) or prostate cancer (OR=31.66; 95% CI=0.091-1.272), and the AGT1R A1166 allele in the homozygote state was identified as a risk genotype for benign prostatic hyperplasia (OR=56.07). CONCLUSIONS: Genotypes in ACE and AGT1R polymorphisms could be considered as genetic risk markers for benign prostatic hyperplasia or prostate cancer.