Polymorphisms of leptin receptor (LEPR) may contribute to a common form of obesity and, as a consequence, obesity-related diseases. We evaluated the potential role of genetic variation at the LEPR gene in heart sympathetic activity and other traits related to obesity in Mexican adolescents. Adolescents aged between 12 and 17 years, with steady body weight for the last 3 months were included. We evaluated anthropometric measurements, blood pressure, seric glucose, insulin, leptin levels, heart sympathetic activity (by electrocardiograph monitoring at rest), and the Gln223Arg and Pro1019Pro LEPR polymorphisms in each subject. In total, 103 adolescents (55 obese and 48 nonobese) were included. The group of obese adolescents showed higher sympathetic activity, blood pressure, glucose, insulin, and leptin levels. The genotype frequencies for the two polymorphisms were found to be in Hardy-Weinberg equilibrium. There was no difference in the genotype frequencies for Gln223Arg or Pro1019-Pro polymorphisms between obese and nonobese adolescents. However, there was a higher prevalence of Gln223 allele among subjects with higher insulin levels (0.72 vs 0.57; P ¼ 0.04 for adolescents with insulin levels higher and lower than 100 pmol/l, respectively). According to Gln223Arg polymorphism, those with Gln allele (Gln/Gln and Gln/Arg) had higher heart sympathetic activity, body fat percentage, and leptin levels. To conclude, our results support the hypothesis that Gln223Arg polymorphism of LEPR in Mexican adolescents is associated with haemodynamic and metabolic disturbances related to obesity.

Background Human papillomavirus infection is an important factor associated with cervical cancer (CC) development. The prevalence and genotype distribution vary greatly worldwide. Examining local epidemiological data constitutes an important step towards the development of vaccines to prevent CC. In this work, we studied the prevalence of HPV genotypes in women from Western Mexico with the COBAS 4800 and/or Linear Array Genotyping Test (LA). Methods The samples analysed in this study represent a population from Western Mexico, which includes six different states. Our approach was first to test for HPV in cervical samples from women who attended their health clinic for routine gynaecological studies (open-population, n = 3000) by utilizing COBAS 4800. Afterwards, 300 of the HPV-positive samples were randomly selected to be genotyped with LA; finally, we genotyped samples from women with cervical intraepithelial neoplasia grade 1 (CIN 1, n = 71) and CC (n = 96) with LA. Sociodemographic data of the diverse groups were also compared. Results The overall HPV prevalence among the open-population of women as determined by COBAS 4800 was 12.1% (n = 364/3000). Among the HPV-positive samples, single infections (SI) with HPV16 were detected in 12.4% (n = 45/364), SI with HPV18 were detected in 1.4%, and infection with at least one of the genotypes included in the high-risk HPV pool was detected in 74.5% of the cases. LA analysis of the samples showed that in addition to HPV genotypes 16 and 18, there was a high prevalence of HPV genotypes 59, 66, 52, 51, 39 and 56 in women from Western Mexico. With respect to the sociodemographic data, we found statistically significant differences in the number of pregnancies, the use of hormonal contraceptives and tobacco intake. Conclusions Our data indicate that there is a high prevalence of HPV genotypes which are not covered by the vaccines currently available in Mexico; therefore, it is necessary to include HPVs 59, 66, 51, 39 and 56 in the design of future vaccines to reduce the risk of CC development. It is also essential to emphasize that the use of hormonal contraceptives and tobacco smoking are risk factors for CC development in addition to the presence of HPV.

3p deletion syndrome is a rare disorder involving developmental delay, dysmorphic physical features, and growth retardation. Molecular mapping of several cases in the literature have identified a critical region on chromosome 3p26. We present a child patient with characteristic features of 3p deletion syndrome and a de novo unbalanced translocation involving chromosomes 3 and 13. Fine mapping of this rearrangement using fluorescence in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH) revealed an unbalanced abnormality including a 4.5 Mb terminal deletion of chromosome 3p, telomeric to ITPR1 on 3p26.2, which was not previously identified with routine cytogenetic analysis. In addition, these investigations confirmed and refined the boundaries of a 26.5 Mb deletion of chromosome 13. This study confirms the minimal candidate region for 3p deletion syndrome, provides further evidence implicating haploinsufficiency of CNTN4 in the disorder, and demonstrates the utility of high-resolution investigations of rare chromosomal rearrangements.

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In order to determine the frequency of respiratory symptoms among residents from surgical specialties dures exposed to the electrocautery smoke, a cross-sectional study was conducted in February 2012. 50 third-year residents from different surgical specialties coming from a third-level hospital belonging to the Institute of Security and Social Services of the State Workers in Jalisco, Mexico, were included. The subject selection was non-probabilistic. A questionnaire on respiratory symptoms developed in Cuba was used for data collection. The most common symptoms were sensation of a lump in the throat (58%), and a sore throat (22%). The specialty with the highest rate of exposure was neurosurgery (24.1 min/surgical procedure). All, the physicians from this specialty had respiratory symptoms. We conclude that the cauterization smoke may be considered a risk for developing respiratory symptoms among physicians with surgical specialties.

Con el objetivo de determinar la frecuencia de síntomas respiratorios entre los residentes de especialidades quirúrgicas expuestos al humo del electrocauterio, se realizó un estudio transversal durante el mes de febrero de 2012. Se incluyeron 50 médicos residentes del tercer año, de diferentes especialidades quirúrgicas, de un hospital de tercer nivel perteneciente al Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado ubicado en Jalisco, México. La selección de sujetos fue no probabilística. Para la recolección de datos, se empleó el cuestionario de síntomas respiratorios desarrollado en Cuba. Los síntomas más comunes fueron sensación de cuerpo extraño (58%) y ardor faríngeo (22%). La especialidad con mayor índice de exposición fue la de neurocirugía (24,1 min/acto quirúrgico). La totalidad de los médicos de esta especialidad tuvieron algún síntoma respiratorio. Se concluye que la inhalación del humo del cauterio puede constituir un riesgo para desarrollar síntomas respiratorios entre los médicos de especialidades quirúrgicas.

The RETN and CAP1 polymorphisms and gene expression may be potential biomarkers for breast cancer risk.

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