Sagittal cranial projections dataset extracted from CBCT volumes corrected to natural head position in a mixed ethnicity population.

This dataset features 200 sagittal projection images derived from Cone Beam Computed Tomography (CBCT) scans, corrected according to the Natural Head Position (NHP) guidelines proposed by Fredrik Lundström and Anders Lundström. The images originate from orthodontic patients in Cali, Valle del Cauca, Colombia, encompassing both initial phases and ongoing treatments. The dataset is divided into two groups: 100 images from female subjects (CoF) and 100 from male subjects (CoM), facilitating gender-specific studies. The dataset is accompanied by an Excel file ``Data info.xlsx'' that details the rotation angles in the axial (Yaw), coronal (Roll), and sagittal (Pitch) planes, along with the pixel size and image dimensions. This detailed documentation supports the replication of studies and aids in the interpretation of cephalometric analyses. Corrections made to align the images with NHP standards involve adjustments in the three main anatomical planes using points from the frontozygomatic suture (Fz) in the axial and coronal planes, and sella (S) and nasion (N) for the sagittal plane.

Pharmacogenetic variability of tuberculosis biomarkers in native and mestizo Peruvian populations.

In Peru, 29 292 people were diagnosed with tuberculosis in 2022. Although tuberculosis treatments are effective, 3.4%-13% are associated with significant adverse drug reactions, with drug-induced liver injury (DILI) considered the most predominant. Among the first-line antituberculosis drugs, isoniazid is the main drug responsible for the appearance of DILI. In liver, isoniazid (INH) is metabolized by N-acetyltransferase-2 (NAT2) and cytochrome P450 2E1 (CYP2E1). Limited information exists on genetic risk factors associated with the presence of DILI to antituberculosis drugs in Latin America, and even less is known about these factors in the native and mestizo Peruvian population. The aim of this study was to determine the prevalence of NAT2 and CYP2E1 genotypes in native and mestizo population. An analytical cross-sectional analysis was performed using genetic data from mestizo population in Lima and native participants from south of Peru. NAT2 metabolizer was determined as fast, intermediate and slow, and CYP2E1 genotypes were classified as c1/c1, c1/c2 and c2/c2, from molecular tests and bioinformatic analyses. Of the 472 participants, 36 and 6 NAT2 haplotypes were identified in the mestizo and native population, respectively. In mestizo population, the most frequent NAT2*5B and NAT2*7B haplotypes were associated with DILI risk; while in natives, NAT2*5G and NAT2*13A haplotypes were associated with decreased risk of DILI. For CYP2E1, c1/c1 and c1/c2 genotypes are the most frequent in natives and mestizos, respectively. The linkage disequilibrium of NAT2 single nucleotide polymorphisms (SNPs) was estimated, detecting a block between all SNPs natives. In addition, a block between rs1801280 and rs1799929 for NAT2 was detected in mestizos. Despite the limitations of a secondary study, it was possible to report associations between NAT2 and CYP2E alleles with Peruvian native and mestizo by prevalence ratios. The results of this study will help the development of new therapeutic strategies for a Tuberculosis efficient control between populations.

Forensic parameters and population structure based on 21 autosomal STRs with the investigator 24plex QS in mestizos from the Mexico City population.

Allele frequencies and forensic parameters for 21 STR autosomal markers (CSF1PO, D10S1248, D12S391, D13S317,D16S539, D18S51, D19S433, D1S1656,D21S11, D22S1045, D2S1338, D2S441, D3S1358, D5S818, D7S820, D8S1179, FGA, SE33, TH01, TPOX and vWA) were reported in 289 unrelated individuals from Mexico City, Mexico. In addition, an interpopulation analysis was performed including other world populations. In brief, the established population database of 21 autosomal STR markers in the present work is adequate for human identification purposes.

RS3480 Polymorphism of FNDC5/Irisin Is Associated with Type 2 Diabetes Mellitus in Maya-Mestizo Women.

Objective: To investigate the possible association between rs3480 and rs16835198 of the fibronectin type III domain containing 5 (FNDC5)/Irisin and their haplotypes with the presence of type 2 diabetes mellitus (T2DM) in Maya-Mestizo women. Methods: We studied 547 postmenopausal women of Maya-Mestizo origin. The diagnosis of T2DM was based on the criteria of the American Diabetes Association. DNA was obtained from blood leukocytes. rs3480 and rs16835198 of FNDC5/Irisin were studied using real-time polymerase chain reaction allelic discrimination. Deviations from Hardy-Weinberg equilibrium and alleles differences, as well as genotype frequencies between groups, were assessed by χ2 tests. Using logistic regression analysis, the odds ratio and 95% confidence intervals were calculated to estimate the association between both polymorphisms of FNDC5/Irisin and the presence of T2DM. Pairwise linkage disequilibrium between polymorphisms was calculated by direct correlation r2, and haplotype analysis was conducted. Results: We found that the G-allele of rs3480, as well as under a dominant model, this polymorphism was significantly associated with T2DM (P = 0.028 and P = 0.003, respectively). Besides, one haplotype was associated with T2DM (P = 0.035). Conclusions: Our results suggest that the FNDC5/Irisin rs3480, and one haplotype formed by rs3480 and rs16835198 were associated with the risk of presenting T2DM in Maya-Mestizo women.

Early-Life Metabolic Traits and Physical Fitness in Tarahumara, Mennonite, and Mestizo Adolescents from Northern Mexico.

The WHO identifies high BMI, high blood pressure, and high fasting plasma glucose as chronic disease risk factors, whereas physical fitness is identified as a protective behavioral factor. This study responds to the rising interest in assessing metabolic factors and physical activity within young populations of Mestizo, Tarahumara, and Mennonite from Chihuahua Mexico, due to its strong relationship with disease development and low well-being. A cross-sectional study was conducted with 201 teenagers from rural towns in Northern Mexico, and relationships between physical fitness and cardio-metabolic risk related to anthropometric, glycolipid, and vascular function factors were assessed. ANOVA-tested differences among ethnic groups using physical fitness as a grouping variable and measures of cardio-metabolic risks were used as dependent variables. A stepwise regression analysis allowed us to identify the best predictors for physical fitness. Clinical risk factors were analyzed by ethnic group and sex. No differences were found among ethnic groups in physical fitness and cardio-metabolic health risks; sex differentiated higher health risks related to behavioral factors, since young women showed lower physical fitness across ethnicities. Clinically, the Mestizo sample showed higher numbers of individuals with one risk factor. Mennonites showed a high frequency of anthropometric and fitness health risks with low glycolipid and vascular risks. Tarahumara had fewer risk factors as compared with both Mestizo and Mennonite. Rural populations are harder to reach, both for health assessment and intervention; health professionals must work close to local community organizations to gain access.

Comparación del estado nutricional de estudiantesuniversitarios wixaritári y mestizos: indicadoresantropométricos y vulnerabilidad social / Comparison of the nutritional status of university students from wixaritáriand mestizos: anthropometric indicators and social vulnerability

Objetivo: Describir y comparar el estado nutricional de estudiantes universitarios wixaritári y mestizos a través de indicadores antropométricos. Métodos: Estudio descriptivo transversal. A cada estudiante se le tomaron las mediciones antropométricas de peso, talla, circunferencia media de brazo, de cadera, cintura, diámetro humeral, pliegue cutáneo bicipital, tricipital, subescapular y suprailíaco, se obtuvieron los índices antropométricos: índice de masa corporal, índice cintura cadera, riesgo cardiovascular por ICC, porcentaje de grasa corporal y complexión. Resultados: Existió una muestra de 388 estudiantes universitarios, de los cuales 46 son alumnos que pertenecen a la etnia wixárika y 342 son mestizos. Se presentó una diferencia estadísticamente significativa (p ≤0,05) en talla, circunferencia de cadera, PCT, PCB, PCSI y PCSE, el IMC y la distribución de grasa. Un porcentaje del 45%(154) de los estudiantes mestizos presento malnutrición y comparado con solo un 17.7%(8) de los estudiantes wixaritári, siendo el sobrepeso el problema con mayor prevalencia en ambos grupos. En cuanto a la complexión, un 76.8%(298) es la media de complexión pequeña, un 21.6% (84) la media de complexión mediana y un 1.8% (6) la media de complexión grande de toda la muestra. En cuanto a la distribución de grasa, un porcentaje más alto de alumnos wixaritári presentan distribución androide. Conclusiones: Es necesaria la creación de políticas públicas institucionales que consideren las necesidades de sus grupos específicos, de manera que se pueda construir un ambiente que fortalezca la dimensión identitaria de sus grupos, garantizando la preservación de sus valores y tradiciones de la cultura, asegurando espacios y alimentos que sean apropiados.(AU)

Objective: Describe and compare the nutritional status ofwixaritari and mestizo university students through anthropometric indicators. Methods: Descriptive cross-sectional study. Anthropometricmeasurements of weight, height, average arm circumference,hip, waist, humeral diameter, bicipital, tricipital, subscapular andsuprailiac skin fold were taken for each student, anthropometricindices were obtained: body mass index, waist index hip, cardiovascular risk due to CHF, body fat percentage and complexion. Results: There was a sample of 388 university students, ofwhich 46 are students belonging to the Wixárika ethnic groupand 342 are mestizos. There was a statistically significant difference (p ≤ 0.05) in size, hip circumference, PCT, PCB, PCSIand PCSE, BMI and fat distribution. A percentage of 45%(154) of the mestizo students presented malnutrition andcompared with only 17.7% (8) of the wixaritári students, being the overweight the most prevalent problem in bothgroups. As for the complexion, 76.8% (298) is the average ofsmall complexion, 21.6% (84) the average of medium complexion and 1.8% (6) the average of large complexion of theentire sample. Regarding fat distribution, a higher percentageof wixaritári students have an android distribution. Conclusions: The creation of institutional public policiesthat consider the needs of their specific groups is necessary,so that an environment that strengthens the identity dimension of their groups can be built, guaranteeing the preservation of their values and traditions of culture, ensuring spacesand food That are appropriate.(AU)

Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population.

Introduction: Metastatic breast cancer causes the most breast cancer-related deaths around the world, especially in countries where breast cancer is detected late into its development. Genetic testing for cancer susceptibility started with the BRCA 1 and 2 genes. Still, recent research has shown that variations in other members of the DNA damage response (DDR) are also associated with elevated cancer risk, opening new opportunities for enhanced genetic testing strategies. Methods: We sequenced BRCA1/2 and twelve other DDR genes from a Mexican-mestizo population of 40 metastatic breast cancer patients through semiconductor sequencing. Results: Overall, we found 22 variants -9 of them reported for the first time- and a strikingly high proportion of variations in ARID1A. The presence of at least one variant in the ARID1A, BRCA1, BRCA2, or FANCA genes was associated with worse progression-free survival and overall survival in our patient cohort. Discussion: Our results reflected the unique characteristics of the Mexican-mestizo population as the proportion of variants we found differed from that of other global populations. Based on these findings, we suggest routine screening for variants in ARID1A along with BRCA1/2 in breast cancer patients from the Mexican-mestizo population.

Variants in the Control Region of Mitochondrial Genome Associated with type 2 Diabetes in a Cohort of Mexican Mestizos.

BACKGROUND: According to the International Diabetes Federation, Mexico is seventh place in the prevalence of type 2 diabetes (T2D) worldwide. Mitochondrial DNA variant association studies in multifactorial diseases like T2D are scarce in Mexican populations. AIM OF THE STUDY: The objective of this study was to analyze the association between 18 variants in the mtDNA control region and T2D and related metabolic traits in a Mexican mestizo population from Mexico City. METHODS: This study included 1001 participants divided into 477 cases with T2D and 524 healthy controls aged between 42 and 62 years and 18 mtDNA variants with frequencies >15%. RESULTS: Association analyses matched by age and sex showed differences in the distribution between cases and controls for variants m.315_316insC (p = 1.18 × 10-6), m.489T>C (p = 0.009), m.16362T>C (p = 0.001), and m.16519T>C (p = 0.004). The associations between T2D and variants m.315_316ins (OR = 6.13, CI = 3.42-10.97, p = 1.97 × 10-6), m.489T>C (OR = 1.45, CI = 1.00-2.11, p = 0.006), m.16362T>C (OR = 2.17, CI = 1.57-3.00, p = 0.001), and m.16519T>C (OR = 1.69, CI = 1.23-2.33, p = 0.006) were significant after performing logistic regression models adjusted for age, sex, and diastolic blood pressure. Metabolic traits in the control group through linear regressions, adjusted for age, sex and BMI, and corrected for multiple comparisons showed nominal association between glucose and variants m.263A>G (p <0.050), m.16183A>C (p <0.010), m.16189T>C (p <0.020), and m.16223C>T (p <0.024); triglycerides, and cholesterol and variant m.309_310insC (p <0.010 and p <0.050 respectively); urea, and creatinine, and variant m.315_316insC (p <0.007, and p <0.004 respectively); diastolic blood pressure and variants m.235A>G (p <0.016), m.263A>G (p <0.013), m.315_316insC (p <0.043), and m.16111C>T (p <0.022). CONCLUSION: These results demonstrate a strong association between variant m.315_316insC and T2D and a nominal association with T2D traits.

Sociocultural drivers of body image and eating disorder risk in rural Nicaraguan women.

OBJECTIVE: Technological and economic globalisation has been suggested as a cause of increasing rates of body dissatisfaction and eating disorders globally, especially as regards the impact of mass media on internalised body ideals. This process is rarely observed in action, however. The current work investigates multiple aspects of body ideals, body image, sociocultural attitudes and eating attitudes in 62 Creole and Mestizo women living in communities at differing stages of technological development on the Caribbean coast of Nicaragua METHOD/RESULTS: In Study 1, women used 3D avatar software to create their own 'ideal' body without the constraints of ready-made stimuli. Analyses of resulting avatars showed that components of the ideal body shape (upper and lower body curvaceousness) but not body size (body mass) were associated with levels of film and television consumption. In Study 2, women completed measures of variables in the sociocultural model of eating disorder risk. As expected, body dissatisfaction mediated the relationship between internalisation of sociocultural body ideals and pathological eating attitudes. In contrast, body appreciation reduced pathological eating attitudes, via reduced body dissatisfaction. Finally, Study 3 measured sociocultural influences, body image and eating attitudes at 2 or 3 timepoints per woman; body dissatisfaction covaried with pathological eating attitudes across time. Ethnicity varied in its effects across studies. DISCUSSION: Together these data show that even at early stages of media acculturation, women may show similar patterns of association between sociocultural internalisation, body dissatisfaction and eating disorder risk as in high income nations. However, they also demonstrate unique aspects of this population's body shape ideals, and the independent protective effect of body appreciation.

Body dissatisfaction and eating disorders are increasing on a global scale. It has been suggested that increasing access to globalised media maybe one factor in rising risk of eating disorders in low- and middle-income countries. We examined 3-dimensional body ideals, body satisfaction, and eating disorder risk in a population with relatively recent access to mass media. We find that although women in these communities maintain higher body weight ideals, and greater body appreciation, than Western women, those women who are internalising globalised cultural messaging about appearance are at greater risk of body dissatisfaction and, in turn, increased risk of eating disorders. This was true both when comparing between women and looking at how individual women's attitudes varied over time. These data show that cultural messaging about appearance has implications for body image and eating disorder risk even in populations which do not have a long history of promoting thin ideals.

FNDC5/Irisin polymorphisms are associated with osteopenia in postmenopausal Mayan-Mestizo women.

OBJECTIVE: This study aimed to analyze the association between rs3480 and rs16835198 of FNDC5/Irisin and their haplotypes with variations in bone mineral density (BMD) and osteopenia/osteoporosis in postmenopausal Mayan-Mestizo women. METHODS: We studied 547 postmenopausal women of Maya-Mestizo origin. BMD was measured in the lumbar spine and total hip by dual-energy X-ray absorptiometry. DNA was obtained from blood leukocytes. rs3480 and rs16835198 of FNDC5/Irisin were studied using real-time PCR allelic discrimination. Differences between the means of BMD according to genotype were analyzed with covariance. Allele frequency differences were assessed by χ2 and logistic regression was used to test for associations. Pairwise linkage disequilibrium between polymorphisms was calculated by direct correlation r2, and haplotype analysis was conducted. RESULTS: Under a recessive model, we observed a significant association of rs3480 with the presence of osteopenia at the total hip and femoral neck (p = 0.008 and p = 0.003, respectively). For rs16835198, we found an association with osteopenia at the total hip and femoral neck in a dominant model (p = 0.043 and p = 0.009, respectively). CONCLUSIONS: We found an association of rs3480 with risk to present osteopenia at the total hip and femoral neck, while rs16835198 was associated as a protector for presence of osteopenia only at the femoral neck.

ASSOCIATION BETWEEN APOE-ε4 CARRIER STATUS AND QUALITATIVE NEUROIMAGING CHARACTERISTICS IN OLDER ADULTS WITH MILD COGNITIVE IMPAIRMENT.

BACKGROUND: The pathogenesis of mild cognitive impairment (MCI) is multifactorial and includes the presence of genetic variants such as the ε4 allele of the apolipoprotein E gene (APOE-ε4). Association between the APOE-ε4 carrier status and deleterious structural and functional changes on magnetic resonance imaging (MRI) has been previously described in individuals with Alzheimer's disease. However, the central nervous system changes may possibly develop in earlier stages of cognitive impairment, as reflected in MCI. OBJECTIVE: The objective of the study was to determine the association between APOE-ε4 carrier status and qualitative changes on MRI (medial temporal and parietal atrophy), as well as the detection of white matter hyperintensities (WMH) in older adults with MCI, in the memory clinic of a tertiary care hospital in Mexico City. METHODS: A cross-sectional study of 72 adults aged 60 years or above who underwent an exhaustive clinical, neuroimaging, and neuropsychological evaluation. Multivariate logistic regression models were constructed to determine the association between APOE-ε4 carrier status and qualitative/quantitative changes on MRI. RESULTS: Mean age was 75.2 years (± 7.2) and 64% were female. Twenty-one participants were cognitively normal and 51 had MCI. Almost 56% were APOE-ε4 carriers and were associated with medial-temporal atrophy according to the Scheltens scale (odds ratio [OR]: 20.0, 95% confidence intervals [CI]: 3.03-131.7), parietal atrophy according to the Koedam's score (OR: 6.3; 95% CI 1.03-39.53), and WMH according to the Fazekas scale (OR: 11.7, 95% CI: 1.26-108.2), even after adjusting for age, educational level, and cardiovascular risk factors. CONCLUSION: The APOE-ε4 carrier status was associated with medial temporal and parietal atrophy, as well as WMH. Our findings support the hypothesis suggesting the contribution of this genotype to neurodegeneration and cerebral vascular pathology.

Identification of KIT and BRAF mutations in thyroid tissue using next-generation sequencing in an Ecuadorian patient: A case report.

Background: The incidence of thyroid cancer has increased worldwide. Ecuador presents the highest incidence among Latin American countries and the second around the world. Genetic alteration is the driving force for thyroid tumorigenesis and progression. The change from valine (V) to glutamic acid (E) at codon 600 of the BRAF gene (BRAFVal600Glu) is the most commonly reported mutation in thyroid cancer. Moreover, the BRAF mutation is not the only mutation that has been correlated with TC. For instance, mutations and overexpression of the KIT gene has been associated with different types of cancer, including lung and colon cancer, and neuroblastoma. Case presentation: A woman in her early fifties, self-identified as mestizo, from Otavalo, Imbabura-Ecuador had no systemic diseases and denied allergies, but she had a family history of a benign thyroid nodule. Physical examination revealed a thyroid gland enlargement. The fine-needle aspiration biopsy indicated papillary thyroid cancer. The patient underwent a successful total thyroidectomy with an excellent recovery and no additional treatments after surgery. Using Next-Generation sequencing a heterozygous mutation in the BRAF gene, causing an amino acid change Val600Glu was identified. Similarly, in the KIT gene, a heterozygous mutation resulting in an amino acid change Leu678Phe was detected. Moreover, an ancestry analysis was performed, and the results showed 3.1% African, 20.9% European, and 76% Native American ancestry. Conclusions: This report represents the genetic characteristics of papillary thyroid cancer in an Ecuadorian woman with a mainly Native American ethnic component. Further studies of pathological variants are needed to determine if the combined demographic and molecular profiles are useful to develop targeted treatments focused on the Ecuadorian population.

Non-Caucasian Rhinoplasty.

Today non-Caucasian patients comprise an important group of patients seeking rhinoplasty. The term non-Caucasian is used interchangeably to speak about patients of ethnic origin. It becomes important to understand the interplay of culture, race, and ethnicity when evaluating patients and defining what their aesthetic ideals are and what will be needed for surgery. An integrated approach and management of the non-Caucasian patient is presented in which medical and surgical options are explored. The final goal when treating non-Caucasian patients should be trying to help patients achieve their aesthetic ideal in the best possible fashion.

Investigating genetic diversity in admixed populations from Ecuador.

OBJECTIVES: According to demographic history, Ecuador has experienced shifts in its Native American populations caused by European colonization and the African slave trade. The continuous admixture events among Europeans, Native Americans, and Africans occurred differently in each region of the country, producing a stratified population. Thus, the aim of this study was to investigate the level of genetic substructure in the Ecuadorian Mestizo population. MATERIALS AND METHODS: A total of 377 male and 209 female samples were genotyped for two sets of X-chromosomal markers (32 X-Indels and 12 X-STRs). Population analyses performed included Hardy-Weinberg equilibrium tests, LD analysis, PCA, pairwise FST s, and AMOVA. RESULTS: Significant levels of LD were observed between markers separated by distances of less than 1 cM, as well as between markers separated by distances varying from 10.891 to 163.53 cM. Among Ecuadorian regions, Amazonia showed the highest average R2 value. DISCUSSION: When X-chromosomal and autosomal differentiation values were compared, a sex-biased admixture between European men and Native American and African women was revealed, as well as between African men and Native American women. Moreover, a distinct Native American ancestry was discernible in the Amazonian population, in addition to sex-biased gene flow between Amazonia and the Andes and Pacific coast regions. Overall, these results underline the importance of integrating X chromosome information to achieve a more comprehensive view of the genetic and demographic histories of South American admixed populations.

Genetic Factors Associated with COPD Depend on the Ancestral Caucasian/Amerindian Component in the Mexican Population.

Genetic variability influences the susceptibility to and severity of complex diseases; there is a lower risk of COPD in Hispanics than in non-Hispanic Caucasians. In this study, we included 830 Mexican-Mestizo subjects; 299 were patients with COPD secondary to tobacco smoking, and 531 were smokers without COPD. We employed a customized genotyping array of single nucleotide polymorphisms (SNPs). The population structure was evaluated by principal component analysis and allele association through a logistic regression model and haplotype identification. In this study, 118 individuals were identified with a high Caucasian component and 712 with a high Amerindian component. Independent of the ancestral contribution, two SNPs were associated with a reduced risk (p ≤ 0.01) of developing COPD in the CYP2A6 (rs4105144) and CYP2B6 (rs10426235) genes; however, a haplotype was associated with an increased risk of COPD (p = 0.007, OR = 2.47) in the CHRNA5-CHRNA3 loci among smokers with a high Caucasian component. In Mexican-Mestizo smokers, there are SNPs in genes that encode proteins responsible for the metabolism of nicotine associated with a lower risk of COPD; individuals with a high Caucasian component harboring a haplotype in the CHRNA5-CHRNA3 loci have a higher risk of suffering from COPD.

Frontoplasty Technique for the Mestizo Patient.

Ethnic groups can be differentiated through certain anatomical characteristics, including the morphological features of their skulls. Little information is available on the craniofacial measures of the Mestizo face. Over time, the upper third of the Mestizo face can develop a greater frontal concavity of the forehead, making the eyebrows drop and giving the face a more masculine appearance. Understanding the skeletal and vascular anatomy of this population group is the foundation for proper aesthetic rejuvenation of the upper third of the face. The purpose of this article is to present an advanced injection technique utilizing a low-viscosity and low-G prime filler to correct exaggerated frontal concavity. Using just 1 to 2mL of product, patients can be safely treated with a high satisfaction rate and a cosmetic result capable of lasting up to three years.

Study of 17 X-STRs in Native American and Mestizo populations of Central America for forensic and population purposes.

In the present work, an extensive analysis of the X-chromosomal pool of Native American and Mestizo groups of Central America (Guatemala, El Salvador, Nicaragua, and Panama) has been carried out. Allele and haplotype frequency databases, as well as other forensic parameters for these populations, are presented. The admixture analysis supports the tri-hybrid composition in terms of ancestry in the Mestizo populations, with a predominant Native American contribution (54-69%), followed by European (19-28%) and African contributions (12-19%). Pairwise FST genetic distances highlight the genetic proximity between the northernmost Central American populations, especially among admixed populations. The unique and complex nature of this area, where populations from different origins intercrossed, as well as the informativity of X-STR data, highpoint the great interest of this genetic study. Furthermore, the X-chromosome databases for Central American populations here provided will be not only useful for forensic and population purposes not only in the target countries but also in the host countries.

Prevalence and clinical characteristics of alpha-1 antitrypsin deficiency in liver explants in a Mexican cohort.

INTRODUCTION: Alpha-1 antitrypsin deficiency (AATD) is a risk factor for liver disease. PASD-positive inclusions have been found unexpectedly in approximately 10% of liver explants in patients with no previous diagnosis of AATD, particularly, in patients with non-alcoholic steatohepatitis (NASH), supporting a synergistic mechanism of liver injury between AATD and environmental factors. We aimed to determine the clinical characteristics of mestizo patients in which AATD was diagnosed before or after liver transplantation. METHODS: Liver explants of patients with cryptogenic, alcoholic, and NAFLD/NASH cirrhosis undergoing orthotopic liver transplantation (OLT) were included. Liver histopathology was assessed by two expert pathologists. Hematoxylin and eosin staining, PASD staining, and confirmatory AAT immunohistochemistry were performed. In explants with positive histopathology, genotyping for SERPINA1 was performed. RESULTS: A total of 180 liver transplants were performed during the study period. Of these, 44 patients with cryptogenic cirrhosis, NASH, and alcoholic cirrhosis were included. Of these patients, two liver explants (4.5%) had PASD-positive inclusions stain and confirmatory immunochemistry. During the period evaluated, another two patients with a diagnosis of AATD before the OLT were also included. The four patients had overweight or obesity, three had type 2 diabetes mellitus, and two developed liver steatosis after the OLT. CONCLUSION: AATD was found to be an infrequent finding in patients with cryptogenic, NASH/NAFLD, and alcoholic cirrhosis in our population. However, it is important to consider this entity as it may represent an additional factor in the appearance and progression of liver fibrosis in patients with metabolic syndrome.

Association between ApoE ε4 Carrier Status and Cardiovascular Risk Factors on Mild Cognitive Impairment among Mexican Older Adults.

Mild cognitive impairment (MCI) (amnestic or non-amnestic) has different clinical and neuropsychological characteristics, and its evolution is heterogeneous. Cardiovascular risk factors (CVRF), such as hypertension, diabetes, or dyslipidemia, and the presence of the Apolipoprotein E ε4 (ApoE ε4) polymorphism have been associated with an increased risk of developing Alzheimer's disease (AD) and other dementias but the relationship is inconsistent worldwide. We aimed to establish the association between the ApoE ε4 carrier status and CVRF on MCI subtypes (amnestic and non-amnestic) in Mexican older adults. Cross-sectional study including 137 older adults (n = 63 with normal cognition (NC), n = 24 with amnesic, and n = 50 with non-amnesic MCI). Multinomial logistic regression models were performed in order to determine the association between ApoE ε4 polymorphism carrier and CVRF on amnestic and non-amnestic-MCI. ApoE ε4 carrier status was present in 28.8% participants. The models showed that ApoE ε4 carrier status was not associated neither aMCI nor naMCI condition. The interaction term ApoE ε4 × CVRF was not statistically significant for both types of MCI. However, CVRF were associated with both types of MCI and the association remained statistically significant after adjustment by sex, age, and education level. The carrier status of the ApoE genotype does not contribute to this risk.