Objectives Genetic variation of the fat mass and obesity associated gene (FTO) has been identified as a risk factor for obesity and obesity traits. Distribution of FTO single nutleotide polymorphisms (SNPs) rs1421085T>C, rs9939609T>A, rs8057044G>A and copy number variation (CNV) was evaluated in association with childhood obesity or overweight status in children with Mayan ethnicity. Methods We included 318 school‐aged children with obesity or overweight status (body mass index [BMI]: >85th percentile) and 303 children with normal weight (BMI: 15th‐85th percentile). Genotyping was performed using real‐time polymerase chain reaction (RT‐PCR) with TaqMan probes. The cross‐sectional study was carried out using univariate and multivariate logistic regression models adjusted for gender. Results FTO‐SNP rs1421085 showed significant differences between children with obesity and children with normal weight for the heterozygous genotype (P = 0.003) and for allele frequencies (P = 0.023). Adjusting by gender, significant differences were found in frequencies of the hetezygous genotype of SNPs rs9939609 (P = 0.023) and rs1421085 (P = 0.003) as well as in allele frequencies (P = 0.042 and P = 0.013, respectively) between girls with obesity and girls without obesity. In contrast, SNP rs8057044 was significantly different only between heterozygous overweight versus normal weight boys (P = 0.035) and for the allele frequency of rs8057044 (P = 0.021). The mean relative CNV was significantly higher in male overweight children than in boys with normal weight (P = 0.000). Conclusions The FTO SNP rs1421085 is a genetic factor associated with obesity in Mayan school‐aged children. FTO SNPs rs1421085 and rs9939609 affect genetic susceptibility for obesity only in girls, whereas, SNP rs8057044 and CNV are associated with overweight status only in boys.

Part of the work agenda of international health authorities is to define the clinical spectrum of the congenital Zika syndrome (CZS) in different territories. We describe the clinical variability that gave rise to the suspicion of CZS in 3 newborn patients in the south of Mexico with active transmission of Zika. All of them presented Zika RNA by reverse transcription-polymerase chain reaction and positive antibodies for IgM by enzyme-linked immunosorbent assay. None of the mothers tested positive for active viremia, only one mother had Zika-symptoms and titers of Zika-positive IgM. Intrauterine growth restriction, brain disruption sequence, and intracranial calcifications are the clinical characteristics common in all. One patient had neural tube defect and other, arthrogryposis. Because the majority of pregnant women will be asymptomatic to Zika, we must be alert to the clinical variability of the birth defects associated to pregnancy Zika infection. Reports of clinical cases encourage the medical community to make diagnostic decisions.

Infection was associated with a high incidence of symptomatic disease but no congenital syndrome.

Biallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the degradation of l-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic deficiency leads to the accumulation of neurotoxins causing macrocephaly at birth, hypotonia and dystonia due to bilateral striatal injury, that evolves with aging, if untreated, to fixed dystonia and akinetic-rigid parkinsonism. In this article, we describe the results of molecular studies of 5 unrelated patients with GA1 in Southern Mexico. Mutational analysis identified 2 novel likely pathogenic GCDH variants (p.Leu130Pro and p.Gly391Val), 1 pathogenic variant that is predicted to cause a premature stop codon (p.Leu370*), and 2 previously reported pathogenic variants (p.Arg294Trp and p.Arg294Gln). The recurrence of the p.Leu130Pro variant (60% of mutant alleles) suggested a possible founder mutation effect. Our results expand the mutational spectrum in GA1 patients and support the importance of early diagnosis through newborn screening that promotes early nutritional treatment and prevents metabolic crisis.Take home messageGlutaric Aciduria type 1 has a wide mutational spectrum; the p.Leu130Pro variant may be a founder mutation in Southeast Mexico.

We describe and discuss the rationale, design and current implementation of a model for an integrated intervention for the primary and secondary prevention of Zika and other Aedes-borne diseases and sexually transmitted infections that impact reproductive health, pregnancy and perinatal life stages in women and their families in Merida, Mexico. The intervention includes enhanced surveillance of pregnant women, implementation of communication strategies to promote good practices to prevent disease transmission, determination of the frequency of structural anomalies detected prenatally in the foetus, umbilical cord and placenta of pregnancies diagnosed with ZIK infection, detection of ZIKV and other arboviruses/viruses in products of abortion, in-utero and early newborn, provision of Aedes aegypti-proof houses" (protecting homes with door/ window screens with insecticide to prevent the access of mosquitoes), mosquito repellents, larvicides and education/promotion of best practices for the prevention of infection with dengue (DENV), chikungunya (CHIKV) and Zika (ZIKV) and an anthropological studies on sociocultural factors of pregnant women associated with ZIKV. This intervention is being developed in a population of 10,000 people of the city of Merida and with the participation of a multidisciplinary group of public health professionals in collaboration with the Ministry of Health and the Government of Yucatan.

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Abstract. Individuals who suffer from spinal muscular atrophy (SMA) exhibit progressive muscle weakness that frequently results in mortality in the most severe forms of the disease. In 98% of cases, there is a homozygous deletion of the survival of motor neuron 1 (SMN1) gene, and both parents carry the same heterozygous genetic abnormality in the majority of cases. Various population studies have been conducted to estimate the frequency of carriers and thereby identify the communities or countries in which children are at a high risk of being affected by SMA. However, the prevalence of SMA in Mexican populations has not yet been established. In the present pilot study, the frequency of the heterozygous deletion of the SMN1 gene was determined in two groups from northeastern (n=287) and central (n=133) Mexican Mestizo populations and compared with other ethnic populations. Amplification refractory mutation system polymerase chain reaction analysis yielded a disease carrier frequency of 11/420 (2.62%) healthy individuals, comprising 9/287 (3.14%) northeastern and 2/133 (1.5%) central Mexican individuals. In summary, no significant differences were identified between the northeastern and central populations of Mexico and other ethnic populations, with the exception of the general worldwide Hispanic population, which exhibited the lowest carrier frequency of 8/1,030.The results of the present study may be used to improve the evaluation procedure, and appear to justify further studies involving larger sample populations.

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