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Human activities have impacted many environments on earth, and thus several species are facing an increased risk of extinction. The environmental crisis requires rapid tools to assess the ecosystem health accurately. Studies have been conducted with visual indices that quantify habitat integrity by predicting species richness and diversity. However, whether a diverse clade can predict habitat integrity has not been used. The genus Argia (Rambur, 1842) is one of the most locally diverse groups in southeastern Mexico. In this context, we hypothesized that the occurrence, species richness, and diversity of adults Argia spp. could be a better predictor of the Visual-Based Habitat Assessment Score (VBHAS) than the other taxonomic levels or less diverse clades. We found that the richness and diversity of Argia spp. are positively correlated with VBHA scores, as same as taxonomic ratios. Simultaneously, VBHA scores increase to 23.51 times when Argia spp. diversity increases. We discuss the possible use of a diverse Odonata clade, as Argia spp. could surrogate habitat integrity for local long-term biomonitoring programs. This approach requires testing with other indices and verifying a reliable and consistent relationship between diverse clades and environmental assessment scores. [ABSTRACT FROM AUTHOR]

Breast cancer (BC) has one of the highest incidences and mortality worldwide. Single nucleotide polymorphisms (SNPs) in TOX3 rs3803662 and MMP7 rs1943779 have been associated with susceptibility to BC. In this case-control study, we evaluated the association of rs3803662 (TOX3)/rs1943779 (MMP7) SNPs with clinical features, immunohistochemical reactivity, and risk association with BC in women from northeastern Mexico. We compared 212 BC cases and 212 controls. DNA was isolated from peripheral blood to perform the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. We calculated genotype frequencies, odds ratios, and 95% confidence intervals. We found that CT (Cytocine–Thymine) and TT (Thymine –Thymine) genotypes, and T alleles of TOX3 rs3803662, were associated with BC risk (p = 0.034, p = 0.011, respectively). SNP TOX3 rs3803662 was associated with positive progesterone receptors (PR) and triple-negative BC (TNBC) but not with estrogen receptor (ER) or HER2 reactivity. CT and TT genotypes (p = 0.006) and T alleles (p = 0.002) of SNP MMP7 rs1943779 were associated with risk of BC. We found that T alleles of TOX3 rs3803662 and MMP7 rs1943779 SNPs are associated with BC risk. These findings contribute to personalized medicine in Mexican women. [ABSTRACT FROM AUTHOR]

Current social conditions require more accurate methods to determine the age of people, either living or deceased. The aim of this study was to determine chronological age by measuring the mineralization of third molars. Volunteers (n = 137), aged between 14 and 22 years and of either gender, were recruited from north-eastern Mexico. Sampling was probabilistic and at random. The mineralization stage of third molars was evaluated with the use of multi-slice helical computed tomography and the Mincer-modified Demirjian amended scale. The correlation coefficient, mean difference and linear estimation were determined. There was a linear correlation between age and the mineralization of third molars. Third molars of adults had a degree of mineralization above Demirjian stage F, whereas the third molars of minors had stages between A and F. Hence, a method was obtained to determine the chronological age from the evaluation of dental mineralization of third molars by multi-slice helical tomography. These results are useful as a diagnostic support in forensic dentistry. [ABSTRACT FROM AUTHOR]

Abstract: Background: The aims of this population genetics study were: 1) to ascertain whether Mexicans with type 2 diabetes mellitus (DM) were genetically homogeneous and 2) to compare the genetic structure of this selected population with the previously reported data of four random populations (Nuevo León, Hispanics, Chihuahua, and Central Region of Mexico). Methods: A sample of 103 unrelated individuals with DM and whose 4 grandparents were born in five zones of Mexico was interviewed in 32 Medical Units in the Mexican Institute of Social Security (IMSS). The non-coding STRs D16S539, D7S820, and D13S317 were analyzed. Results: Genotype distribution was in agreement with Hardy–Weinberg expectations for all three markers. Allele frequencies were found to be similar between the selected population and the four random populations. Gene diversity analysis suggested that more than 99.57% of the total gene diversity could be attributed to variation between individuals within the population and 0.43% between the populations. Conclusions: According to the present and previous studies using molecular and non-molecular nuclear DNA markers not associated with any disease, the Mexican Mestizo population is found to be genetically homogeneous and therefore the genetic causes of DM are less heterogeneous, thereby simplifying genetic epidemiological studies as has been found in a previous study with the same design in Mexican women with breast cancer. [Copyright &y& Elsevier]

Background: Persistent infection with high-risk human papillomavirus (HPV) is a major risk factor for malignant lesions and cervical cancer. A widely studied element in the search for genetic factors influencing risk HPV infection diseases is allelic variation of the human leukocyte antigen (HLA) locus. The study was designed to search for HLA susceptibility alleles contributing to the persistence of HPV infection in Mexican women. Methods: A total of 172 subjects were divided into three groups: 1) HPV-persistent patients; 2) HPV-cleared; and 3) HPV-reinfected patients. They were screened for HPV types using a polymerase chain reaction (PCR). PCR-sequence specific oligonucleotide probes (PCR-SSOP) was used for HLA DRB1 and DQB1 typing. Results: We observed that HLA-DQB1*0501 allele might be associated with susceptibility of reinfection with HPV (p = 0.01, OR = 4.9, CI 95% = 1.3 -18.7). Allele frequency of HLA-DRB1*14 was particularly reduced in patients with cancer when compared with the HPV-persistent group (p = 0.04), suggesting that this allele is a possible protective factor for the development of cervical cancer (OR = 2.98). HLA-DRB1*07 might be associated with viral clearance (p = 0.04). Conclusions: Genetic markers for HPV infection susceptibility are different in each population, in Mexicans several HLA-DQB1 alleles might be associated with an enhanced risk for viral persistence. In contrast, DRB1*14, seems to confer protection against cervical cancer. [ABSTRACT FROM AUTHOR]

Copyright of Medicina Interna de Mexico is the property of Colegio de Medicina Interna de Mexico and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

A hospital-based unmatched case-control study was performed in order to determine the relation of DNA single (ssb) and double (dsb) strand breaks in women with and without cervical neoplasia. Cervical epithelial cells of 30 women: 10 with low grade squamous intraepithelial lesions (LG-SIL), 10 with high-grade SIL (HG-SIL), and 10 without cervical lesions were evaluated using alkaline and neutral comet assays. A significant increase in global DNA damage (ssb + dsb) and dsb was observed in patients with HG-SIL (48.90 ± 12.87 and 23.50 ± 13.91), patients with LG-SIL (33.60 ± 14.96 and 11.20 ± 5.71), and controls (21.70 ± 11.87 and 5.30 ± 5.38; resp.). Pearson correlation coefficient reveled a strong relation between the levels ssb and dsb (r2 = 0.99, P = 0.03, and r2 = 0.94, P = 0.16, resp.) and progression of neoplasia. The increase of dsb damage in patients with HG-SIL was confirmed by DNA breakage detection-FISH (DBD-FISH) on neutral comets. Our results argue in favor of a real genomic instability in women with cervical neoplasia, which was strengthened by our finding of a higher proportion of DNA dsb. [ABSTRACT FROM AUTHOR]

Copyright of Salud Pública de México is the property of Instituto Nacional de Salud Publica and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Salud Pública de México is the property of Instituto Nacional de Salud Publica and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Over the last 500 years, admixture among Amerindians, Europeans, and Africans, principally, has come to shape the present-day gene pool of Mexicans, particularly Mestizos, who represent about 93% of the total Mexican population. In this work, we analyze the genetic data of 13 combined DNA index system-short tandem repeats (CODIS-STRs) in 1,984 unrelated Mestizos representing 10 population samples from different regions of Mexico, namely North, West, Central, and Southeast. The analysis of molecular variance (AMOVA) test demonstrated low but significant differentiation among Mestizos from different regions (FST = 0.34%; P = 0.0000). Although the spatial analysis of molecular variance (SAMOVA) predicted clustering Mestizo populations into four well-delimited groups, the main differentiation was observed between Northwest when compared with Central and Southeast regions. In addition, we included analysis of individuals of Amerindian (Purepechas), European (Huelva, Spain), and African (Fang) origin. Thus, STRUCTURE analysis was performed identifying three well-differentiated ancestral populations (k = 3). STRUCTURE results and admixture estimations by means of LEADMIX software in Mestizo populations demonstrated genetic heterogeneity or asymmetric admixture throughout Mexico, displaying an increasing North-to-South gradient of Amerindian ancestry, and vice versa regarding the European component. Interestingly, this distribution of Amerindian ancestry roughly reflects pre-Hispanic Native-population density, particularly toward the Mesoamerican area. The forensic, epidemiological, and evolutionary implications of these findings are discussed herein. [ABSTRACT FROM AUTHOR]

Cytogenetic studies have an important role in the evaluation of couples with repeated miscarriages and poor obstetric history. To estimate the prevalence of chromosomal abnormalities and polymorphic variants in 158 couples with repeated miscarriages, a cross-sectional study was conducted in Monterrey, Mexico from 1995 to 2003. Peripheral blood lymphocytes were cultured for chromosomal studies using standard methods. Twelve couples showed chromosomal abnormalities (7.60%), two Robertsonian translocations (1.27%), two balanced translocations (1.27%), one inversion (0.63%), and one a novel insertion (0.63%). This insertion [46, XX, ins (15;8) (q26;p11p23)] is unique, and is the third reported in association with repeated abortion. Mosaicism was observed in six couples (3.80%, three with structural abnormalities and three with numerical abnormalities). A female to male ratio of 1.4:1 was observed. In addition to these chromosomal abnormalities, polymorphic variants in constitutive heterochromatin of the 1qh+, 9qh+, and 16qh+ chromosomes were observed in 25 couples (15.82%), of the Yqh+ chromosome in 21 couples (13.29%), and of satellite in 35 couples (22.15%). In conclusion, chromosome analysis is necessary for appropriate clinical management of these patients. [ABSTRACT FROM AUTHOR]

The article presents a study that explores the genetic admixture of eight Mexican indigenous populations in Mexico. Evaluated through the five polymorphic DNA loci, the study shows the trihybrid model of the groups with Ameridian, Spanish and African ancestry. It also demonstrates that the genetic admixture of these population, who as present speak the American-Indian language, can be differentiated with less ancestral indigenous contributions that those considered as Mestizo population.

Objective: to evaluate the validity (sensitivity, specificity, and accuracy) of three screening methods used in the early detection of the cervical carcinoma versus the histopathology diagnosis. Methods: a selected sample of 107 women attended in the Opportune Detection of Cervicouterine Cancer Program in the Hospital de Zona 46, Instituto Mexicano del Seguro Social in Durango, during the 2003 was included. The application of Papanicolaou, acetic acid test, and molecular detection of human papillomavirus, and histopatholgy diagnosis were performed in all the patients at the time of the gynecological exam. The detection and tipification of the human papillomavirus was performed by polymerase chain reaction (PCR) and analysis of polymorphisms of length of restriction fragments (RFLP). Histopathology diagnosis was considered the gold standard. The evaluation of the validity was carried out by the Bayesian method for diagnosis test. Results: the positive cases for acetic acid test, Papanicolaou, and PCR were 47, 22, and 19. The accuracy values were 0.70, 0.80 y 0.99, respectively. Conclusion: since the molecular method showed a greater validity in the early detection of the cervical carcinoma we considered of vital importance its implementation in suitable programs of Opportune Detection of Cervicouterino Cancer Program in Mexico. However, in order to validate this conclusion, cross-sectional studies in different region of country must be carried out. [ABSTRACT FROM AUTHOR]

Mexico is a rich source for anthropological and population genetic studies with high diversity in ethnic and linguistic groups. The country witnessed the rise and fall of major civilizations, including the Maya and Aztec, but resulting from European colonization, the population landscape has dramatically changed. Today, the majority of Mexicans do not identify themselves as Indigenous but as admixed, and appear to have very little in common with their pre-Columbian predecessors. However, when the maternally inherited mitochondrial (mt)DNA is investigated in the modern Mexican population, this is not the case. Control region sequences of 2021 samples deriving from all over the country revealed an overwhelming Indigenous American legacy, with almost 90% of mtDNAs belonging to the four major pan-American haplogroups A2, B2, C1, and D1. This finding supports a very low European contribution to the Mexican gene pool by female colonizers and confirms the effectiveness of employing uniparental markers as a tool to reconstruct a country's history. In addition, the distinct frequency and dispersal patterns of Indigenous American and West Eurasian clades highlight the benefit such large and country-wide databases provide for studying the impact of colonialism from a female perspective and population stratification. The importance of geographical database subsets not only for forensic application is clearly demonstrated. [ABSTRACT FROM AUTHOR]

The article presents a report that compares the genetic structure of Mexican women with breast cancer(BrCa). The authors interviewed 115 unrelated women with BrCa and whose grandparents were born within the five zones of Mexico and used them as the sample in the research. They also analyzed noncodifying STRs D7S820, D13S317, and D16S39. The results show that the Mexican Mestizo population is genetically homogenous and the genetic causes of BrCa are less heterogenous.

Persistent high-risk human papillomavirus (HR-HPV) infections play a major role in the development of invasive cervical cancer (CC), and screening for such infections is in many countries the primary method of detecting and preventing CC. HPV typing can be used for triage and risk stratification of women with atypical squamous cells of undetermined significance (ASC-US)/low-grade cervical lesions (LSIL), though the current clinical practice in Mexico is to diagnose CC or its preceding conditions mainly via histology and HR-HPV detection. Additional information regarding these HPV infections, such as viral load and co-infecting agents, might also be useful for diagnosing, predicting, and evaluating the possible consequences of the infection and of its prevention by vaccination. The goal of this follow-up hospital case study was to determine if HPV types, multiple HPV infections, and viral loads were associated with infection persistence and the cervical lesion grade. A total of 294 cervical cytology samples drawn from patients with gynecological alterations were used in this study. HPV types were identified by real-time PCR DNA analysis. A subset of HPV-positive patients was reevaluated to identify persistent infections. We identified HPV types 16, 18, and 39 as the most prevalent. One hundred five of the patients (59%) were infected with more than one type of HPV. The types of HPV associated with multiple HPV infections were 16, 18, and 39. In the follow-up samples, 38% of patients had not cleared the initially detected HPV infection, and these were considered persistent. We found here an association between multiple HPV infections and high viral loads with and infection persistence. Our findings suggest there are benefits in ascertaining viral load and multiple HPV infections status of HR-HPV infections for predicting the risk of persistence, a requirement for developing CC. These findings contribute to our understanding of HPV epidemiology and may allow screening programs to better assess the cancer-developing risks associated with individual HR-HPV infections. [ABSTRACT FROM AUTHOR]

In this descriptive study we investigated the genetic structure of 513 Mexican indigenous subjects grouped in 14 populations (Mixteca-Alta, Mixteca-Baja, Otomi, Purépecha, Tzeltal, Tarahumara, Huichol, Nahua-Atocpan, Nahua-Xochimilco, Nahua-Zitlala, Nahua-Chilacachapa, Nahua-Ixhuatlancillo, Nahua-Necoxtla, and Nahua-Coyolillo) based on mtDNA haplogroups. These communities are geographically and culturally isolated; parents and grandparents were born in the community. Our data show that 98.6% of the mtDNA was distributed in haplogroups A1, A2, B1, B2, C1, C2, D1, and D2. Haplotype X6 was present in the Tarahumara (1/53) and Huichol (3/15), and haplotype L was present in the Nahua-Coyolillo (3/38). The first two principal components accounted for 95.9% of the total variation in the sample. The mtDNA haplogroup frequencies in the Purépecha and Zitlala were intermediate to cluster 1 (Otomi, Nahua-Ixhuatlancillo, Nahua-Xochimilco, Mixteca-Baja, and Tzeltal) and cluster 2 (Nahua-Necoxtla, Nahua-Atocpan, and Nahua-Chilacachapa). The Huichol, Tarahumara, Mixteca-Alta, and Nahua-Coyolillo were separated from the rest of the populations. According to these findings, the distribution of mtDNA haplogroups found in Mexican indigenous groups is similar to other Amerindian haplogroups, except for the African haplogroup found in one population. [ABSTRACT FROM AUTHOR]

The (CGG)n repeat size distribution in the FMR1 gene was studied in healthy individuals: 80 X chromosomes of Mexican Mestizos from Mexico City and 33 X chromosomes of Mexican Amerindians from three indigenous communities (Purepechas, Nahuas, and Tzeltales), along with alleles and haplotypes defined by two microsatellite polymorphic markers (DXS548 and FRAXAC1) and two single nucleotide polymorphisms (FMRA and FMRB). Genetic frequencies of Mestizo and Amerindian subpopulations were statistically similar in almost all cases and thus were considered one population for comparisons with other populations. Sixteen (CGG)n alleles in the 17-38 size range were observed, and the most common were the 25 (38.0%), 26 (28.3%), and 24 (12.3%) repeat alleles. This pattern differs from most other populations reported, but a closer relation to Amerindian, European, and African populations was found, as expected from the historical admixture that gave rise to Mexican Mestizos. The results of the CA repeats analysis at DXS548-FRAXAC1 were restricted to nine haplotypes, of which haplotypes 7-4 (52.2%), 8-4 (23.8%), and 7-3 (11.5%) were predominant. The modal haplotype 7-4, instead of the nearly universal haplotype 7-3, had been reported exclusively in Eastern Asian populations. Likewise, only seven different FRAXAC1-FMRA-FMRB haplotypes were observed, including five novel haplotypes (3TA, 4TA, 3-A, 4-A, and 5-A), compared with Caucasians. Of these, haplotypes - A (78.7%) and 3-A (13.2%) were the most common in the Mexican population. These data suggest a singular but relatively low genetic diversity at FMR1 in the studied Mexican populations that may be related to the recent origin of Mestizos and the low admixture rate of Amerindians. [ABSTRACT FROM AUTHOR]

Breast density (BD) is a risk factor for breast cancer. Aims: To describe BD patterns in asymptomatic Mexican women and the pathological mammographic findings. Methods and Material: Prospective, descriptive, and comparative study. Women answered a questionnaire and their mammograms were analyzed according to BI-RADS. Univariate (X²) and conditional logistic regression analyses were performed. Results: In 300 women studied the BD patterns were fat 56.7% (170), fibroglandular 29% (87), heterogeneously dense 5.7% (17), and dense pattern 8.6% (26). Prevalence of fat pattern was significantly different in women under 50 years (37.6%, 44/117) and older than 50 (68.8%, 126/183). Patterns of high breast density (BD) (dense + heterogeneously dense) were observed in 25.6% (30/117) of women ≤50 years and 7.1% (13/183) of women >50. Asymmetry in BD was observed in 22% (66/300). Compression cone ruled out underlying disease in 56 cases. In the remaining 10, biopsy revealed one fibroadenoma, one complex cyst, and 6 invasive and 2 intraductal carcinomas. 2.6% (8/300) of patients had non-palpable carcinomas. Benign lesions were observed in 63.3% (190/300) of cases, vascular calcification in 150 cases (78.9%), and fat necrosis in 38 cases (20%). Conclusions: Mexican women have a low percentage of high-density patterns. [ABSTRACT FROM AUTHOR]

Primary amenorrhoea refers to the absence of menarche by the age of 16-18 years in the presence of secondary sexual characteristics, and occurs in 1-3% of women of reproductive age. To study the prevalence of chromosomal abnormalities and the different options available for clinical management of women in Mexico with primary amenorrhoea, a cross-sectional study was conducted in 187 women with primary amenorrhoea referred from Department of Reproductive Medicine of Morones Prieto Hospital, IMSS in Monterrey, Mexico during 1995-2003. Peripheral blood lymphocytes were cultured for chromosomal studies by the standard methods. Numerical or structural abnormalities of the sex chromosome were found in 78 women (41.71%). These women were classified into four categories: X-chromosome aneuploidies (22.99%: 12.83% pure line and 10.16% mosaicism association with a 45,X cell line); presence of chromosome Y (10.70%); structural anomalies of the X chromosome (4.28%); and marker chromosomes (3.74%). In conclusion, the prevalence of chromosomal abnormalities in Mexican women with primary amenorrhoea is within the range (24-46%) reported in world literature. Chromosomal analysis is absolutely necessary for appropriate clinical management of these patients. [ABSTRACT FROM AUTHOR]

Abstract: Early- and late-onset Parkinson''s disease (EOPD and LOPD) have been associated with mutations in the PARKIN gene. Several studies have reported association of Parkinson''s disease (PD) with different polymorphisms in different ethnic populations. To study the role of PARKIN polymorphisms as risk factors for PD in a genetically homogeneous northeastern Mexican population, four previously described coding polymorphisms (Ser167Asn, Val380Leu, Arg366Trp, and Asp394Asn) were analyzed by using the PCR-RFLP technique. This case–control study comprised 117 unrelated patients (mean age 59±12 years, range 25–83 years) and 122 healthy unrelated control subjects (mean age 50±15 years, range 25–85 years). The homozygous Trp366 and Asn394 genotypes were not present in our study. The Ser167Asn and Val380Leu polymorphisms were not associated with this disease. For the control group, Ser167Asn and Val380Leu were in Hardy–Weinberg disequilibrium. Given that the main causes of Hardy–Weinberg disequilibrium in controls are selection bias or genotyping error, a competing risk of death associated with the mutant gene could be an explanation of this disequilibrium and lack of association. [Copyright &y& Elsevier]

Opuntia ficus-indica (OFI) seeds are a rich source of functional lipids, yet research on Mexican cultivars remains limited. This study evaluated the antioxidant and anti-inflammatory properties of lipids extracted through subcritical fluid and supercritical fluid extraction with carbon dioxide (SCE-CO₂ and SFE-CO₂) from Mexican OFI Villanueva and Rojo Vigor seeds with and without enzymatic pretreatment. SCE OFI Villanueva oil showed higher extraction efficiency of linoleic (45.86 mg/g), and oleic (9.86 mg/g) acids purified more than 5.47 and 1.18 times, respectively. Additionally, SCE oils exhibited the highest antioxidant potential (68 %) and anti-inflammatory activity (45 %) at the evaluated doses. In conclusion, SCE-CO₂ enhanced the extraction efficiency of unsaturated fatty acids, improving their potential biological effects, while enzymatic pretreatment did not positively impact on results, suggesting reduced extraction efficiency and bioactivity. These findings suggest that OFI seeds can serve as a valuable source of functional ingredients for the development of value-added food products., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier Ltd.)

Background: Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if they show an association with it., Methods: DNA samples from 397 patients and 355 controls were tested for the ADIPOQ gene SNPs: rs2241766 (GT) and rs1501299 (GT) by TaqMan allelic discrimination assay. Hardy-Weinberg equilibrium (HWE) was tested. Multiple SNP inheritance models adjusted by age and body mass index (BMI) were examined for the SNP rs1501299., Results: We found that in the frequency analysis of rs1501299 without adjusting the BMI and age, the genotype distribution had a statistically significant difference (P = 0.003). The T allele was associated with a BC risk (OR, 1.99; 95% CI 1.13-3.51, TT vs. GG; OR, 1.53; 95% CI 1.12-2.09, GT vs. GG). The SNP rs2241766 was in HW disequilibrium in controls. In conclusion, the rs1501299 polymorphism is associated with a BC risk., Conclusions: Identification of the genotype of these polymorphisms in patients with BC can contribute to integrate the risk profile in both patients and their relatives as part of a comprehensive approach and increasingly more personalized medicine.

Background: Congenital heart defects (CHDs) are the most common type of birth defects and a major cause of infant mortality. Although knowledge of genetic risk variants for CHDs is scarce, most cases of CHDs are considered to be due to multifactorial inheritance. Objective: To analyze the association of 14 single nucleotide polymorphic variants previously associated with a risk of CHDs in a Mexican population with isolated CHDs. Materials and Methods: DNA samples obtained from healthy subjects and from subjects with isolated atrial, ventricular, or atrioventricular septal defects living in Northeastern Mexico were analyzed by real time-polymerase chain reaction for allelic discrimination of genetic variants of the genes TBX1 , TBX20 , ASTX-18-AS1 , AXIN1 , MTHFR , NKX2.5 , BMP4 , and NFATc1 . The odds ratios (ORs) for allele and genotype frequencies and inheritance models were obtained. Results: Forty-two patients and 138 controls were included. Two variants were found to confer a risk of CHDs: variant rs4720169 of TBX20 in which the OR for the heterozygous state was 1.88 (95% confidence interval [CI]: 1.12-3.14, p  = 0.010), whereas the OR for the homozygous state was 3.82 (95% CI: 1.18-12.3, p  = 0.010); and variant rs12921862 of AXIN1 in which the OR for the heterozygous state was 4.15 (95% CI: 2.42-7.10; p  ≤ 0.001), whereas the OR for the homozygous state was 9.2 (95% CI: 1.31-64.7, p  = 0.008) for allele A. Conclusion: Genetic variants of the TBX20 and AXIN1 genes confer a significantly increased risk of congenital septal heart defects in a population from Northeastern Mexico.

Purpose: To review incidence, treatment and outcome of pediatric pituitary adenomas (PAs)., Methods: A follow-up study patients with the age of ≤19 years old who were treated from 1995 to 2015 in Mexico., Results: Out of 1244 diagnosed PA, 43 patients were children (35 females, 8 males) with a mean age of 17.2 years. The majority were macroadenomas (70%) with prolactinomas (PRL) dominating (63%) followed by non-functioning adenomas (21%). In total, 40% were diagnosed as invasive. Growth hormone (GH) secreting adenomas, adrenocorticotropic hormone secreting and mixed GH-PRL secreting were rare. The treatment modalities were dopamine agonists and surgery. The average treatment time was 44 months with an average follow-up period of 104 months. Sixty-eight percent (27/40) of the patients had complete response after long time follow-up. Thirty-one percent did not respond to treatment whereof three patients died due to advanced disease and late intervention. The principal causes for treatment failure were treatment resistance, late intervention and poor patient compliance., Conclusions: Sixty eight percent had complete treatment response without any sign of disease, while ~31% did not respond to treatment or did not comply to follow up/treatment. Optimized early diagnose, treatment methods with early intervention, long time follow-up and with better measures for patient compliance should improve outcomes.

Recessive dystrophic epidermolysis bullosa (R-DEB) is caused by mutations in the COL7A1 gene. The most common mutation reported in Mexican families is the c.2470insG mutation, normally detected by DNA sequencing. We report a faster and more economical high-throughput genotyping method to detect the c.2470insG mutation using specific TaqMan probes in a real-time polymerase chain reaction (RT-PCR) that facilitates genotype analysis with allelic discrimination plots. Our new method correctly genotyped 45 samples that had previously been sequenced as 41 wild-type homozygous (-/-), 1 heterozygous (-/G) and three mutant homozygous (G/G) (100% specificity). This new method allows high-throughput screening and furthermore is economical ($3 US/sample), fast (2 h), and sensitive as it requires only 20 ng input DNA. We used the new test to genotype 89 individuals from 32 unrelated Mexican families with R-DEB. The observed genotypic frequencies were 93.3% for the homozygous wild-type and 6.7% for the heterozygous genotype. The homozygous mutant genotype was not found. In conclusion, the allelic discrimination assay by RT-PCR is a sensitive, specific and effective high-throughput test for detecting the c.2470insG mutation., (Copyright © 2014 IMSS. Published by Elsevier Inc. All rights reserved.)

Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a severe genetic skin blistering disorder caused by mutations in the gene COL7A1 encoding type VII collagen. Most of the patients' clinical severity depends in part on the nature and location of the mutations, ranging from the mild form described as RDEBother-generalized (RDEB-O) to the more aggressive phenotype described as RDEBsevere-generalized (RDEB-sev gen). However, interfamilial and interindividual differences in subjects with identical COL7A1 mutations suggest the presence of modifier elements, which may influence severity. There is a single nucleotide polymorphism (SNP) at the promoter of the MMP1 gene-encoding matrix metalloproteinase type 1, which has been studied as a genetic disease modifier in different patient cohorts with different findings., Methods: We tested the SNP in 30 patients with RDEB and 130 controls whose four grandparents were born in northeastern Mexico. Patients were clinically classified as RDEB-sev gen and RDEB-O by three dermatologists. The SNPStats, RXC, and SPSS software were used to perform statistical testing., Results: The allele frequencies for 2G were 0.607, 0.562, and 0.642 for RDEB-O, RDEB-sev gen, and the control group, respectively. When the genotype frequencies were compared, there was no significant difference between RDEB-sev gen (OR = 0.38, CI 95% 0.12-1.21), RDEB-O (OR = 1.03, CI 95% 0.21-4.96), and the control group., Conclusion: We found no significant association in relation to the severity of the study subjects and the SNP at the promoter of the MMP1 gene., (© 2014 The International Society of Dermatology.)

Unlabelled: Environmental and genetic factors may modify or contribute to the phenotypic differences observed in multigenic and monogenic diseases, such as cystic fibrosis (CF). An analysis of modifier genes can be helpful for estimating patient prognosis and directing preventive care. The aim of this study is to determine the association between seven genetic variants of four modifier genes and CF by comparing their corresponding allelic and genotypic frequencies in CF patients (n = 81) and control subjects (n = 104). Genetic variants of MBL2 exon 1 (A, B, C and D), the IL-8 promoter (-251 A/T), the TNFα promoter (TNF1/TNF2), and SERPINA1 (PI*Z and PI*S) were tested in CF patients and control subjects from northeastern Mexico by PCR-RFLP., Results: The TNF2 allele (P = 0.012, OR 3.43, 95% CI 1.25-9.38) was significantly associated with CF under the dominant and additive models but was not associated with CF under the recessive model. This association remained statistically significant after adjusting for multiple tests using the Bonferroni correction (P = 0.0482). The other tested variants and genotypes did not show any association with the disease., Conclusion: An analysis of seven genetic variants of four modifier genes showed that one variant, the TNF2 allele, appears to be significantly associated with CF in Mexican patients.

Osteoporosis is a common health problem in Mexico, so it is essential to investigate the status of different gene polymorphisms that could serve as genetic susceptibility markers in the Mexican population. Genes with a role in bone metabolism are excellent candidates for association studies. In this study were determined the allelic and genotypic frequencies of four polymorphic markers (C/T rs3736228, G/A rs4988321, T/C rs627174 and T/C rs901824) in the low-density lipoprotein receptor-related protein 5 gene (LRP5) and their association with osteoporosis in 100 pos-menopausal osteoporotic Mexican women and their controls, using real time-PCR and TaqMan probes. Only the G/A polymorphism (rs4988321, Val667Met) showed significant differences (p = 0.039) when genotype frequencies were compared. However, when the haplotypes of these four polymorphisms were analyzed, interesting associations became evident. The CGTT haplotype showed significant association with low risk of osteoporosis (OR 0.629; p = 0.007; [95 % CI, 0.448-0.884]), whereas the TACT haplotype was significantly associated with a higher risk of osteoporosis (OR 7.965; p = 0.006; [95 % CI, 1.557-54.775]). Our results supported the association of LRP5 with osteoporosis and showed the potential value of LRP5 haplotypes to identify risk of osteoporosis in Mexican population.

Descriptive correlational study. The objectives were the following: 1) evaluate maternal perception of her child's weight through two test, Word-perception (WVP) test and the Body mass index (BMI) of the child as perceived by the mother (Body weight index perception [BWIP]); 2)evaluate the sensitivity and specificity of the tests, and 3) quantify BMI heritability (h2) in 173 mother-child dyads. WP was assessed by asking the question, How do you think your child is? For assessing BWIP, the mother referred the child's eight and height, and we calculated the child's BMI as perceived by the mother. The weight and height of the mothers and their children were measured. We found that 10.3% of mothers of children with Overweight (OW) and 1.8% of mothers of children with Obesity (OB) perceived their children adequately by means of WP; by means of the BWIP test, 38.5 and 67.3% of mothers of children with OW and OB, respectively, exhibited adequate perception. BWIP sensitivity was 55.3% and specificity was 54.4%. BWI h2 was 15%. We was concluded that mothers did not perceive the OW-OB of their children, and that asking the mother for the weight and height of the child (BMIP) will aids her to perceive the OW-OB of her child. The BWI h2 indicate that the lifestyle factors of this population contribute to OW-OB. Given the broad socioeconomic and cultural diversity, these results of the southeastern Mexican state of Campeche should be evaluated with similar study designs.

Cervical cancer (CC) is the second most common cancer in Mexican women. Human papillomavirus (HPV) infection is necessary but not sufficient for CC development. Furthermore, genetic factors as polymorphisms could be important susceptibility factors. Controversial results regarding TP53 polymorphisms specifically in codon 72 of CC have been reported. In the present work, the exon 4 sequence of TP53 gene in CC and healthy Mexican-mestizo women were analyzed. A group of 111 women with CC and 126 healthy women (control) were included. Peripheral blood cells for polymorphism analysis and cervical scrape for HPV detection were used. PCR of exon 4 of TP53 were subjected to denaturing high-performance liquid chromatography (DHPLC) analysis and sequencing. HPV detection was subjected to PCR and sequencing. The statistical analysis was carried out using the Arlequin software. Codon 72 Arg/Arg was the most common SNP detected, and Hardy-Weinberg analysis showed equilibrium in control and CC samples (P>0.05). Wild type sequence of TP53 exon 4 was detected in 66 and 57% in control and CC samples, respectively. For codon 72 Arg/Arg, differences between control and CC women were found (P=0.043). An association between HPV 16/18 infection and 72 Arg/Arg in woman with CC was found (P=0.026). Haplotype GC (codon 36 and 72) was statistically significantly associated with CC (P=0.011). HPV 16 was the most common viral type. Codon 72 Arg/Arg is the most common polymorphism in the Mexican population and could be associated to HPV 16 and/or HPV 18 infection in CC.

Objective: The goals of this population genetics study were to describe mtDNA haplogroups and ABO and Rh blood group systems of 3 Native Mexican populations, to determine their genetic variability, and to compare their haplogroups with those of 13 Native Mexican populations previously reported., Material and Methods: The three communities under analysis were a Tepehua-speaking community from Huehuetla (Hidalgo state), an Otomi-speaking community from San Antonio el Grande (Hidalgo state), and a Zapotec-speaking community from Juchitán (Oaxaca state). Every subject studied in each community had four grandparents who were born in the same community and spoke the same language. The four Amerindian mtDNA haplogroups (A, B, C and D) were studied by restriction analysis and gel electrophoresis., Results: Regarding the blood groups, the O group was the most frequent in the three populations (97.2, 94.7, and 86.2%, respectively), as well as the Rh+ group (100, 100, 84%). The three populations analyzed were in Hardy-Weinberg equilibrium. In respect to the mtDNA haplogroups, A, B, C and D, their percentage was 33.3, 36.1, 13.9 and 5.6 % in Huehuetla; 39.5, 13.2, 39.5 and 2.6 % in San Antonio el Grande, and 55.3, 21.0, 7.9 and 5.2 % in Juchitán. Between 5 and 11% of the haplogroups were of non-Amerindian origin, probably due to admixture with Caucasian and African populations, as has been reported in the past. No statistically-significant differences were found among the three populations studied or between them and 13 previously reported Native Mexican populations.

Objectives: To evaluate 1) maternal perception (MP) of their child's weight, 2) MP of overweight-obesity (OW-OB) of unrelated children (URC),3) MP of image with health risk, and 4) recognition of OW-OB health risks., Material and Methods: A total of 325 mother-child dyads participated. A panel with 7 images was used.The child's body mass index was the gold standard., Results: A total of 84 of 100 mothers of OW-OB children did not accurately perceive their children's weight. Of the total sample, 97.5% perceived the OW-OB of URC and 83.1% the OW-OB image with health risk. Most of the mothers recognized the health risks., Conclusion: It is necessary to design multidisciplinary intervention programs to help mothers of OW-OB children accurately recognize their children's weight and, thus, reduce the high prevalence of OW-OB in our population.

We conducted a case-control study to assess whether general DNA damage levels evaluated by comet assay (length of tail comet, tail extent moment, and olive tail moment) differ in Mexican patients with type 2 diabetes mellitus (DM2). The sample included 71 Mexican patients with DM2 who had developed the disease >5 years previously and had been treated with oral hypoglycemic drugs (sulfonylurea and/or metformin), with no microvascular or macrovascular complications. These patients were classified into three groups according to age: (I) 40-50 years, (II) 51-60 years, and (III) 61-70 years. A control group of 14 individuals (40-50 years) without DM2 was included. Our results showed there was a slight but not significant increase in DNA damage in the two groups of patients with DM2 aged between 40 and 60 years compared with the 61-70-year-old patient group and controls. In conclusion, given that general DNA damage was similar in the three groups of patients with DM2 and the control group, it is possible that these cells showed similar oxidative damage, as has been proposed previously.

Objective: To investigate the association between the progressive stage of cervical dysplasia and DNA damage by comet assay., Study Design: A hospital-based, unmatched, case-control study was performed. DNA damage levels (none, low, medium and high) in the cervical epithelial cells of 31 women (10 with low grade squamous intraepithelial lesions [LSIL], 10 with high grade [HSIL] and 11 with no cervical lesion) were evaluated using the comet assay., Results: A significant increase in medium DNA damage was observed in women with HSIL (17 +/- 8.9) relative to that in the control women (9 +/- 6.1). A significant increase in high DNA damage was also observed in women with LSIL (23 +/- 15.4) or HSIL (32 +/- 13.1) relative to that in the control women (12 +/- 7.9)., Conclusion: These findings confirm that the grade of a cervical lesion correlates with the degree of genomic instability.

Objective: To study the pre- and transoperative factors that influence patients' survival with GM., Methods: Clinical and pathological records of all confirmed cases of GM diagnosed between 2000 and 2006 were included. Postoperative survival was divided in less or more than 8 months. χ2 test was used., Results: One hundred and twenty patients (45 women and 75 men) were studied. Age range was from 7 to 85 years, 3.3% were 16 years old or younger and 12.5% were 70 years old or older. Headache was the most frequent complain, 40 patients developed hemiparesia and 6 had parestesias. Predominance of white matter hemispheric lesions was observed: right hemispheric tumors 65 (54%), left lesions 30 (25%) and bilateral tumors 7%. Histologically, 1.6% of GM had a sarcomatous component; 35% of patients survived less than 8 months. A difference between patients survival was the preoperative Karnofsky Performance Scale Score and the degree of cerebral edema during the surgical procedure., Conclusions: Pre-operative Karnofsky evaluation and edema during the surgical procedure were significant prognostic factors for survival.

Infection with human papillomavirus (HPV), mainly HPV type 16, is the major etiologic factor associated with cervical cancer (CC), but HPV infection alone is not sufficient for progression of precursor lesions. Host genetic susceptibility may lead to abnormal immune response resulting from virus persistence. Several studies have suggested a possible association with specific human leukocyte antigen (HLA) class I and II alleles and CC, but results are not consistent. The association of genetic HLA class I (A and B) and HLA class II (DR*B1 and DQ*B1) haplotypes with HPV16-positive CC (n = 104) and base population controls (n = 104) was evaluated in this Mexican population study. Sequence-specific primer HLA genes were determined by polymerase chain reaction (PCR)-based methods in peripheral blood cell counts (PCR sequence-specific oligonucleotides). The cervical swabs of 208 women were tested for HPV16 by Hybrid Capture II. Allele and haplotype HLA frequencies, Hardy-Weinberg tests, and a haplotype homogeneity test were estimated using the Arlequin software v. 3.01. Odds ratio (OR) was calculated to compare cases and control women. Consistent associations across other studies in women with CC and infected by HPV16 were observed for HLA-DRB1*15 (OR, 3.9; 95% CI, 1.6-10.2) and the haplotype DRB1*15 DQB1*0602 (OR, 4.1; 95% CI, 1.4-12.7) compared with control women. The HLA-A2-B44-DR4-DQ*0302, HLA-A24-B35-DR16-DQ*0301, and HLA-A2-B40-DR4-DQ*0302 haplotypes showed a positive association with CC (OR, >1), whereas HLA-A2-B39-DR4-DQ*0302, HLA-A24-B35-DR4-DQ*0302, and HLA-A68-B40-DR4-DQ*0302 showed a negative association (OR, <1). These results support the hypothesis that some HLA class I and II haplotypes could be involved with susceptibility for developing CC.

The objectives of this descriptive study were to establish the benefits and barriers perceived by adolescents for consuming fruit and vegetables, and to determine gender differences. A random sample of 829 adolescents attending public secondary schools in Matamoros, Tamaulipas was recruited (398 were males, and 431) with a mean age of 13.11 +/- 0.93 years. A scale of benefits and barriers for consuming fruit and vegetables was used. The most important perceived benefits for males were: "I'd take care of my health eating more fruit and vegetables" (4.24 +/- 0.99), "I like the taste of fruit" (4.21 +/- 1.06), and "eating fruit and vegetables would give me more vitamins and minerals (4.20 +/- 1.07). For females the perceived benefits were: "I like the taste of fruits" (4.48 +/- 0.81), and "I'd take care of my health eating more fruit and vegetables" (4.41 +/- 0.91). Adolescents of both genders, pointed out as barrier pesticides in fruit and vegetables (3.14 +/- 1.31 for males and 2.97+1.22 for females). Findings showed that perceived benefits and barriers have differences by gender. Females perceive higher benefits 24.25+9.15 (p = 0.001). Males perceived higher barriers 24.94 +/- 7.28 (p = 0.001). In conclusion, benefits and barriers are different by gender. Given the great cultural diversity in Mexico, these findings in students residing in this border city must be validated with similarly designed studies.

Objective: We describe the methodology used to analyze multiple transcripts using microarray techniques in simultaneous biopsies of muscle, adipose tissue and lymphocytes obtained from the same individual as part of the standard protocol of the Genetics of Metabolic Diseases in Mexico: GEMM Family Study., Methods: We recruited 4 healthy male subjects with BM1 20-41, who signed an informed consent letter. Subjects participated in a clinical examination that included anthropometric and body composition measurements, muscle biopsies (vastus lateralis) subcutaneous fat biopsies anda blood draw. All samples provided sufficient amplified RNA for microarray analysis. Total RNA was extracted from the biopsy samples and amplified for analysis., Results: Of the 48,687 transcript targets queried, 39.4% were detectable in a least one of the studied tissues. Leptin was not detectable in lymphocytes, weakly expressed in muscle, but overexpressed and highly correlated with BMI in subcutaneous fat. Another example was GLUT4, which was detectable only in muscle and not correlated with BMI. Expression level concordance was 0.7 (p< 0.001) for the three tissues studied., Conclusions: We demonstrated the feasibility of carrying out simultaneous analysis of gene expression in multiple tissues, concordance of genetic expression in different tissues, and obtained confidence that this method corroborates the expected biological relationships among LEPand GLUT4. TheGEMM study will provide a broad and valuable overview on metabolic diseases, including obesity and type 2 diabetes.

Background: Genetic susceptibility to pulmonary tuberculosis (PTb) has been associated with the HLA (Antigens of the Human Leukocytes) system of the MHC (Major Histocompatibility Complex), mainly with HLA-DR and-DQ antigens. Based on this assumption we carried out a case control study to determine the association of PTb with the HLA-DR and-DQ antigens among a sample of patients attending a medical unit belonging to the Mexican Social Security System (IMSS)., Methods: HLA system phenotypes from cases (n=50) and controls (n=417), were defined serologically using a complement dependent microlymphocytotoxic assay. B lymphocytes were obtained using immunobeads. The allele and haplotype frequencies were determined using the Arlequin version 3.01 computer software. Relative risk (RR) was calculated with the Epimax Table Calculator., Results: The alelles HLA-DR11(5), -DR16(2) and -DQ7(3) and haplotypes /DR11(5)-DQ7(3), /DR14(6)-DQS(1) and /DR16(2)-DQ7(3) had a higher frequency in cases than in controls (RR>1, p<0.05). The HLA-DR17(3) and DQ8(3) alelles and /DR17(3)-DQ2 and /DR4-DQ8(3) haplotypes had a higher frequency among controls than among cases (RR<1, p<.05)., Conclusions: These results indicate an association between PTb with the HLA-DR and -DQ antigens in a Mexican sample. Our results are similar to those found in the international literature.

Unlabelled: Coccidioidomycosis (CM) is primarily a lung disease. Systemic spread occurs in 1% of cases and one of its manifestation is osteoarthritis., Aim: To describe the clinical and pathological characteristics of 36 patients with osteoarthritis by Coccidioides immitis (COA)., Material and Methods: The surgical pathology records of two medical institutions were reviewed; patients with clinical diagnosis of osteoarthritis and definitive histopathological diagnosis of COA were included in the study. Results were analyzed by contingence tables (RXC) and chi2 test., Results: Twenty six adults (19 men, seven women) and 10 children (seven males, three females) were studied. The chi2 analysis demonstrated a predominance of disease in men (72.2%, p = 0.008). There was no difference between males and females in relation to history of mycotic disease or diagnosis of lung disease after the diagnosis of COA. Bone involvement (76% of cases) was more frequent that pure joint lesions and the predominant radiological lesion was of lytic type. 30.5% of patients (11 cases) had multiple bone lesions and eight of them were men with multiple vertebral bone lesions., Discussion: The COA was the only manifestation of disease in 83% of the patients. Therefore is important to consider this etiology in patients of endemic area. The clinical and radiological spectrum of COA is wide and may include a dentigerous and synovial cyst or simulates metastatic disease. The recognition of the clinical manifestations of COA may contribute to an opportune diagnosis and treatment.

The aims of this descriptive study in nuclear families were: 1) assess the distribution of nutritional stage of parents with respect to the nutritional stage of their children and 2) analyze those parents with the highest frequency of children at risk of being overweight (RS) and overweight (S). Body mass index (BMI) was determined in a sample of 126 nuclear families. Kappa values for parents and children were 0.95 and 0.97, respectively. For parents, birthplace of four grandparents was known. A wide variability in the nutritional stage (assessed by BMI) of the 252 parents (Normal-Normal, Normal-Obese, etc.) and their 300 children (Undernourished, Normal, RS and S) was found. A minimum number of children with RS and S (7.7%) was found among parents with Normal-Normal nutritional stage (reference group) in comparison with children whose parents were Overweight-Overweight (22%) and Overweight-Obese (35%). Since we found in parents Overweight-Overweight and Overweight-Obese a greater proportion of children with RS and S, this finding will facilitate the search for susceptibility genes for obesity in Mexican nuclear families with these characteristics.

Objective: This study describes the presence of mutations in BRCA1 and BRCA2 genes in a group of Mexican women and the clinical evolution of early onset breast cancer (EOBC)., Material and Methods: A prospective hospital-based study was performed in a sample of 22 women with EOBC (7 in clinical stage IIA, 8 in IIB, and 7 in IIIA). The patients attended a tertiary care hospital in northeastern Mexico in 1997 and were followed up over a 5-year period. Molecular analysis included: 1) a mutation screening by heteroduplex analysis (HA) of BRCA1 and BRCA2 genes and 2) a sequence analysis., Results: Of 22 patients, 14 (63.6%) showed a variant band detected by heteroduplex analysis of the BRCA1 and BRCA2 genes: 8 polymorphisms, 4 mutations of uncertain significance, and 2 novel truncated protein mutations, one in BRCAI (exon 11, 3587delT) and the other in the BRCA2 gene (exon 11, 2664InsA)., Conclusions: These findings support future studies to determine the significance and impact of the genetic factor in this Mexican women population.

Introduction: Our aim was to characterize the cytogenetic profile that displays a certain phase of chronic myelogenous leukemia (CML), offering new directions for investigation of the etiology to the molecular level. In Mexico, data does not exist in this regard; thus, the objective of the present study was to determine cytogenetic alterations in 56 Mestizo Mexican patients with LMC., Design: Cross-sectional study (diagnosis and stage) was carried out., Materials and Methods: samples of bone marrow of 56 patients with CML in different phases were analyzed using G banding and fluorescence in situ hybridization (FISH) with DNA probes for Philadelphia chromosome (Ph)., Results: 19% of patients in chronic stage showed secondary chromosomal alterations in contrast with an observed 60% in patients in accelerated stage. Most frequent alterations included trisomy 8 and 19, extra Ph chromosome, and isochromosome of the 17., Conclusions: We believe this to be the first work that determines secondary chromosomal alterations in Mexican racially mixed patients with LMC. These are in agreement with those reported for other populations at the worldwide level.

Background: In northeastern Mexican population prevalence of positive cutaneous reaction to coccidioidin varies from 30 to 49%. Pregnancy is a risk factor for disseminated coccidioidomycosis., Objectives: 1) To describe the clinical spectrum of coccidioidomycosis in four women who acquired the disease during pregnancy or puerperium. 2) To discuss the autopsy findings. 3) To review the medical literature., Material and Methods: From 1983 to 2000, files of the Pathology Department of a reference tertiary hospital in northeastern Mexico were reviewed. Four cases of 4,598 autopsies corresponded to pregnant women with coccidioidomycosis. Clinical and autopsy charts, and the histological material were studied., Results: Clinical spectrum included a septicemia case with fetal lost, an atypical pneumonia, a chronic meningitis with neuropsychiatric alterations and a patient with hypertensive pregnancy disease with secondary renal insufficiency and repeated episodes of pneumonia. All patients at autopsy showed multiple granulomas with abundant mycotic spherules. Lung involvement included bilateral 2-10 mm nodules., Conclusion: In pregnant women of endemic areas or who had traveled to these zones during pregnancy, coccidioidomycosis should be considered in the differential diagnosis of febrile syndrome with pneumonia, specially if it is accompanied of bilateral nodular infiltrates in lung, with or without erythema nodosum or meningitis.

Aims: 1. To describe clinical and pathologic characteristics of patients with coccidioidomycosis (CM) who died from 1983-2000 at a hospital in northeastern Mexico, and 2, to know distribution of number of deaths due to CM per year and month., Methods: From 4598 autopsies, 31 cases of CM were selected. Clinical chart and autopsy protocols were examined. Distribution of cases was analyzed by contingence table and Kolmogorov-Smirnov tests., Results: There were 10 women and 21 men (aged 4 months to 60 years). In women, pregnancy was present in 40% of cases. In men, chronic renal failure (CRF) (38%) and AIDS (19%) were the pathologic conditions most frequently observed. Variation in distribution of cases throughout 18 years was not observed (p > 0.05)., Conclusions: Mortality due to CM was 0.67% and variation in number of deaths was not found. In this endemic area, CM must be included in differential diagnosis of patients with risk factors such as pregnancy, CRF, and AIDS, especially if associated with pneumonia with miliary pattern or septicemia with splenomegaly.

Background: Pediatric surgical site infection (SSI) rates in the United States range from 2.5% to 4.4%. There is little data regarding their risk factors among children. We quantified SSI rates and identified risk factors of SSI in a tertiary care pediatric teaching hospital in Mexico City., Methods: All neurosurgical, cardiovascular, and general surgical patients who underwent operation between Aug 1, 1998, and Jan 31, 1999, were followed-up daily during hospitalization. On postoperative day 30, a full review of microbiology reports and medical records was performed. Univariate and multivariate analyses were done to identify risk factors., Results: Four hundred twenty-eight of 530 children completed follow-up. The overall SSI rate was 18.7%. Forty percent of SSI were superficial incisional, 21% were deep incisional, and 39% were organ/space infections. For clean, clean-contaminated, contaminated, and dirty procedures, SSI infection rates were 12.4%, 24.4%, 14.3%, and 32.4%, respectively. Open drains (OR = 2.3; 95% CI = 1.3-4.2; P <.005) and surgery that lasted 90 or more minutes (OR = 2.9; 95% CI = 1.6-5.1; P <.001) were associated with infection., Conclusions: Our rates are greater than comparable reported data among children. Duration of surgery and use of open drains were associated with SSI.

This descriptive study investigates the genetic structure of seven Mexican indigenous populations (Mixteca Alta, Mixteca Baja, Otomies, Purepecha, Nahuas-Guerrero, Nahuas-Xochimilco, and Tzeltales) on the basis of five PCR-based polymorphic DNA loci: LDLR, GYPA, HBGG, D7S8, and GC. Genetic distance and diversity analyses indicate that these Mexican indigenous are similar and that more than 96% of the total gene diversity (H(T)) can be attributed to individual variation within populations. Mixteca-Alta, Mixteca-Baja, and Nahuas-Xochimilco show indications of higher admixture with European-derived persons. The demonstration of a relative genetic homogeneity of Mexican Indians for the markers studied suggests that this population is suitable for studying disease-marker associations in the search for candidate genes of complex diseases., (Copyright 2002 Wiley-Liss, Inc.)

Objective: In Mexico, the congenital defects (CD) in newborns represent the third cause of infant morbi-mortality. Incidence rates/1000 reported for our country vary from 8.15 (Puebla) to 32.90 (Distrito Federal). The aim of this study was to estimate the incidence of some CD in Monterrey, Mexico., Method: A transversal, prospective, descriptive, and observational study was carried out at the Hospital de Ginecologia y Obstetricia No. 23, IMSS during January 1995 to December 1999. The external CD were analyzed according to World Health Organization (WHO) and classified according to their topography distribution., Results: A total incidence of 9.89 [(1309/132,369)* 1000)] was detected. The more frequent CD were: the nervous system (2.33), the chromosomal (1.67), osteomuscular (1.67) of face and neck (1.18), and reproductive system (0.81). The less frequent CD were: the digestive system (0.43), diverse syndromes (0.38), and skin (0.29)., Conclusion: Even though the global incidence of DC observed in this study is into the rank informed in the national and international literature. Because of this incidence has a great variability, we considered important to homogenize diagnosis criteria for each DC. With this results it will be possible to carry out comparative cross-sectional studies to determine if they are similar or different and then, by association studies to establish its possible etiological factors.

Tetrameric short tandem repeat (STR) polymorphisms are widely used in population genetics, molecular evolution, gene mapping and linkage analysis, paternity tests, forensic analysis, and medical applications. This article provides allelic distributions of the STR loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, CSF1PO, TPOX, TH01, and D16S539 in 143 Mestizos from Northeastern Mexico, estimates of contributions of genes of European (Spanish), American Indian and African origin in the gene pool of this admixed Mestizo population (using 10 of these loci); and a comparison of the genetic admixture of this population with the previously reported two polymorphic molecular markers, D1S80 and HLA-DQA1 (n = 103). Genotype distributions were in agreement with Hardy-Weinberg expectations (HWE) for almost all 13 STR markers. Maximum likelihood estimates of admixture components yield a trihybrid model with Spanish, Amerindian, and African ancestry with the admixture proportions: 54.99% +/- 3.44, 39.99% +/- 2.57, and 5.02% +/- 2.82, respectively. These estimates were not significantly different from those obtained using D1S80 and HLA-DQA1 loci (59.99% +/- 5.94, 36.99% +/- 5.04, and 3.02% +/- 2.76). In conclusion, Mestizos of Northeastern Mexico showed a similar ancestral contribution independent of the markers used for evolutionary purposes. Further validation of this database supports the use of the 13 STR loci along with D1S80 and HLA-DQA1 as a battery of efficient DNA forensic markers in Northeastern Mestizo populations of Mexico., (Copyright 2002 Wiley-Liss, Inc.)