Assessing the Impact of SARS-CoV-2 Lineages and Mutations on Patient Survival.

OBJECTIVES: More than two years into the COVID-19 pandemic, SARS-CoV-2 still remains a global public health problem. Successive waves of infection have produced new SARS-CoV-2 variants with new mutations for which the impact on COVID-19 severity and patient survival is uncertain. METHODS: A total of 764 SARS-CoV-2 genomes, sequenced from COVID-19 patients, hospitalized from 19th February 2020 to 30 April 2021, along with their clinical data, were used for survival analysis. RESULTS: A significant association of B.1.1.7, the alpha lineage, with patient mortality (log hazard ratio (LHR) = 0.51, C.I. = [0.14,0.88]) was found upon adjustment by all the covariates known to affect COVID-19 prognosis. Moreover, survival analysis of mutations in the SARS-CoV-2 genome revealed 27 of them were significantly associated with higher mortality of patients. Most of these mutations were located in the genes coding for the S, ORF8, and N proteins. CONCLUSIONS: This study illustrates how a combination of genomic and clinical data can provide solid evidence for the impact of viral lineage on patient survival.

Genetic variants of antioxidant enzymes and environmental exposures as molecular biomarkers associated with the risk and aggressiveness of bladder cancer.

Bladder cancer (BC) is one of the top 10 most common tumours worldwide; however, no molecular markers are currently available for tumour management and follow-up. BC could benefit from molecular biomarkers in environmental disease, which provide mechanistic understanding of individual susceptibility to exposure-related cancers and allow characterizing genetic alterations in the molecular pathway for malignancy. This case-control study performed a molecular analysis in 99 BC and 125 controls. Buccal swabs were collected to assess SNPs in eleven genes coding for xenobiotic detoxification enzymes, cellular antioxidant defences, and hormone synthesis and signalling (NAT2 (rs1801280), GPX1 (rs1050450 and rs17650792), TXNRD1 (rs7310505), PRDX3 (rs3740562), PON1 (rs662), SOD1 (rs10432782), SOD2 (rs4880), CAT (rs1001179), CYP17A1 (rs743572) and ESR1 (rs746432)). A structured questionnaire was administered to study participants to assess environmental and dietary chemical exposures. Several miRNAs associated with BC and detoxification/antioxidant pathways were analysed in a subsample of the study population, including miR-93-5p, miR-221-3p, miR-126, miR-27a-3p, miR-193b, and miR-193a-5p. Levels of selected environmental pollutants (polycyclic aromatic hydrocarbons and endocrine disrupting chemicals) were determined in urine from a subsample of BC cases and controls. We found that CYP17A1, CAT, SOD1, ESR1, PON1, and GPX1 (rs17650792) were associated with BC risk. Furthermore, exposure to smoke and/or dust, and alcohol intake were identified as risk factors for BC. Increased urinary levels of benzo[a]pyrene and bisphenol A were observed in BC patients relative to controls, along with an increased expression of miR-193b, miR-27a and miR-93-5p in BC. Nevertheless, further studies with a larger sample size are warranted to confirm these exploratory results. This study also shows that the combination of genetic markers (PON1 and CYP17A1) and miRNA (miR-221-3p and miR-93-5p) open a new scenario in the use of non-invasive biomarkers in the stratification of BC to guide personalized medicine, which is extremely urged in the current clinical setting.

Role of IGF2 in the Study of Development and Evolution of Prostate Cancer.

Prostate Cancer (PC) is commonly known as one of the most frequent tumors among males. A significant problem of this tumor is that in early stages most of the cases course as indolent forms, so an active surveillance will anticipate the appearance of aggressive stages. One of the main strategies in medical and biomedical research is to find non-invasive biomarkers for improving monitoring and performing a more precise follow-up of diseases like PC. Here we report the relevant role of IGF2 and miR-93-5p as non-invasive biomarker for PC. This event could improve current medical strategies in PC.

[Endovascular treatment of intracranial venous sinus stenosis in intracranial hypertension: three case reports and a discussion of the literature]. / Tratamiento endovascular de la estenosis de los senos venosos intracraneales en la hipertensión intracraneal: descripción de tres casos y discusión de la bibliografía.

INTRODUCTION: Idiopathic intracranial hypertension is an entity with an incidence of approximately 1.2: 100,000 inhabitants/year. It affects in a greater proportion obese women and women of childbearing age. Headache is the most characteristic symptom, followed by visual disturbances. In recent years, the diagnosis of dural sinus stenosis has increased in cases of intracranial hypertension resistant to conventional treatment. For this reason, the development of endovascular therapy as a therapeutic option in selected patients is booming. CASE REPORTS: We present three cases of intracranial hypertension secondary to dural sinus stenosis, diagnosed and treated in our hospital. Despite the establishment of adequate diuretic treatment and the performance of invasive procedures to bypass the cerebrospinal fluid, they persisted with neurological symptoms and visual deficits. After verifying that they fulfilled the requirements described in the literature, they underwent intracranial stenting, with satisfactory results in all of them, achieving the disappearance of the headache and recovery of visual acuity. CONCLUSION: Stenting of dural sinus stenosis as a cause of intracranial hypertension is an increasingly used technique, which has presented favorable results. Studies are necessary to know its long-term impact.

TITLE: Tratamiento endovascular de la estenosis de los senos venosos intracraneales en la hipertensión intracraneal: descripción de tres casos y discusión de la bibliografía.Introducción. La hipertensión intracraneal idiopática es una entidad con una incidencia anual aproximada de 1,2 por cada 100.000 habitantes. Afecta en mayor proporción a mujeres obesas y en edad fértil. La cefalea es el síntoma más característico, seguido de las alteraciones visuales. En los últimos años, se ha incrementado el diagnóstico de la estenosis de los senos durales en los casos de hipertensión intracraneal resistentes al tratamiento convencional. Por ello, se encuentra en auge el desarrollo de la terapia endovascular como opción terapéutica en pacientes seleccionados. Casos clínicos. Se presentan tres casos de hipertensión intracraneal secundaria a estenosis de los senos durales, diagnosticados y tratados en nuestro hospital. A pesar de la instauración del adecuado tratamiento diurético y de la realización de procedimientos invasivos de derivación del líquido cefalorraquídeo, persistían la clínica neurológica y el déficit visual. Tras comprobar que cumplían los requisitos descritos en la bibliografía, se sometieron a la implantación de stent intracraneal (stenting), con resultado satisfactorio en todos ellos, logrando la desaparición de la cefalea y la recuperación de la agudeza visual. Conclusión. El stenting de la estenosis de los senos durales como causa de hipertensión intracraneal es una técnica cada vez más utilizada que ha presentado resultados favorables. Es necesaria la realización de estudios para conocer su impacto a largo plazo.

Genetic variants in xenobiotic detoxification enzymes, antioxidant defenses and hormonal pathways as biomarkers of susceptibility to prostate cancer.

Cancer is considered a complex disease that in many cases results from the interaction between chemical exposures, either from environmental or dietary sources, and genetic polymorphisms of xenobiotic-metabolizing enzymes (XME) or antioxidant enzymatic defenses. This study explored associations and interactions between genetic and environmental risk factors on the risk of prostate cancer (PCa) in 323 subjects that underwent prostate biopsy due to prostate specific antigen (PSA) levels above 4 ng/ml (161 PCa and 162 non-PCa). Eleven genes involved directly or indirectly in xenobiotic detoxification, oxidative stress and estrogen signaling were studied (GSTM1, GPX1 (rs1050450 and rs17650792), NAT2 (rs1801280), TXNRD1 (rs7310505), PRDX3 (rs3740562), CYP17A1 (rs743572), PON1 (rs662), SOD1 (rs10432782), SOD2 (rs4880), CAT (rs1001179), and ESR1 (rs746432)). A structured questionnaire was administered to all individuals to assess environmental and dietary chemical exposures. Medical data was collected by urologists. GPX1 rs17650792 polymorphism was the only one showing a significant inverse association with PCa risk. PRDX3 and GPX1 (rs17650792) genetic polymorphisms were significantly associated with Gleason score and PSA levels, respectively. The intake of nuts and soya products was associated with a reduced risk of PCa, as well as the performance of physical activity. Moreover, a number of gene-environmental interactions were found to increase the risk of PCa, particularly exposure to pesticides and rs1801280 (NAT2) and tobacco smoking and rs1050450 (GPX1). These findings suggest that the association of genetic and environmental risk factors with PCa risk should be assessed jointly for a better understanding of this complex disease.

Costo efectividad de insulina lispro protamina (NPL) vs. combinación de insulina NPH + insulina rápida / Cost effectiveness of lispro protamine insulin (NPL) vs combination of NPH insulin + rapid insulin

OBJETIVO: La estrategia farmacológica en el manejo de la diabetes tipo 2 incluye la insulina lispro protamina (NPL) vs. combinación de insulina NPH + insulina rápida. El análisis costo efectividad aborda el aspecto económico y el epidemiológico en el proceso de elección entre dos o más alternativas. El objetivo fue determinar el costo efectividad de la insulina lispro protamina (NPL) vs. combinación de insulina NPH + insulina rápida. MÉTODOS: Estudio de costo efectividad en pacientes con diabetes tipo 2. Alternativa 1, usuarios de insulina lispro protamina (NPL), y 2, usuarios de insulina NPH + insulina rápida. Tamaño de muestra de 62 por grupo, técnica muestral aleatoria simple. El costo incluyó, costo unitario, intensidad de uso del servicio, costo promedio por insumo, costo promedio por servicio, y costo por tipo de alternativa (incluyó medicina familiar, laboratorio y medicamentos). La efectividad se determinó con el promedio de los resultados de glucosa realizados durante todo el año. El plan de análisis incluyó análisis costo efectividad y análisis costo efectividad incremental. RESULTADOS: Costo promedio (estimado en pesos mexicanos) de la alternativa lispro protamina (NPL) $6,146.30 y NPH + insulina rápida $2,671.02. La NPH + insulina rápida tiene menor costo y mayor efectividad. El costo efectividad incremental identifica que con la alternativa NPH + insulina rápida existe ahorro de $158.98 por cada miligramo de glucosa por decilitro en relación a la alternativa  lispro protamina (NPL). CONCLUSION: El resultado, bajo nuestras limitantes, sugiere mejor relación costo efectividad en insulina NPH + insulina rápida

OBJECTIVE: Pharmacological strategies for the management of patients with type 2 diabetes include lispro protamine insulin (NPL) and NPH insulin + rapid insulin. The cost-effectiveness study addresses the economic and epidemiological aspects in the process of choosing between two or more alternatives. The objective is to determine the cost effectiveness of lispro protamine insulin (NPL) vs combination of NPH insulin + rapid insulin. METHODS: Cost effectiveness study in patients with type 2 diabetes. Alternative 1: lispro protamine insulin (NPL) and alternative 2: NPH insulin + rapid insulin. Sample size 62 per group, simple random sampling technique. Cost (estimated in Mexican pesos) included, unit cost, intensity of use of the service, average cost per input, average cost per service, and cost per type of alternative (including family medicine, laboratory and medication.) Effectiveness was determined with the average glucose results carried out throughout the year. Analysis plan included cost effectiveness analysis and incremental cost effectiveness analysis. RESULTS: The total average cost of lispro protamine insulin (NPL) and NPH insulin + rapid insulin mixture was $6,146.30 and $2,671.02, respectively. The NPH insulin + rapid insulin mixture alternative has lower cost and greater effectiveness. According to the cost effectiveness analysis, with the NPH insulin + rapid insulin mixture alternative, there was a saving of $159.98 for each milligram of glucose per deciliter comparing to the lispro protamine insulin (NPL) alternative. CONCLUSION: According with our results, a better cost-effectiveness ratio was obtained in NPH insulin + rapid insulin

The role of miRNAs as biomarkers in prostate cancer.

There is an urged need of non-invasive biomarkers for the implementation of precision medicine. These biomarkers are required to these days for improving prostate cancer (PCa) screening, treatment or stratification in current clinical strategies. There are several commercial kits (Oncotype DX genomic prostate score®, Prolaris®, among others) that use genomic changes, rearrangement or even non-coding RNA events. However, none of them are currently used in the routine clinical practice. Many recent studies indicate that miRNAs are relevant molecules (small single-stranded non-coding RNAs that regulate gene expression of more than 30% of human genes) to be implement non-invasive biomarkers. However, contrasting to others tumors, such as breast cancer where miR-21 seems to be consistently upregulated; PCa data are controversial. Here we reported an extended revision about the role of miRNAs in PCa including data of AR signaling, cell cycle, EMT process, CSCs regulation and even the role of miRNAs as PCa diagnostic, prognostic and predictive tool. It is known that current biomedical research uses big-data analysis like Next Generation Sequencing (NGS) analysis. We also conducted an extensive online search, including the main platforms and kits for miRNAs massive analysis (like MiSeq, Nextseq 550, or Ion S5™ systems) indicating their pros, cons and including pre-analytical and analytical issues of miRNA studies.

Methodology for Y Chromosome Capture: A complete genome sequence of Y chromosome using flow cytometry, laser microdissection and magnetic streptavidin-beads.

This study is a comparison of the efficiency of three technologies used for Y chromosome capture and the next-generation sequencing (NGS) technologies applied for determining its whole sequence. Our main findings disclose that streptavidin-biotin magnetic particle-based capture methodology offers better and a deeper sequence coverage for Y chromosome capture, compared to chromosome sorting and microdissection procedures. Moreover, this methodology is less time consuming and the most selective for capturing only Y chromosomal material, in contrast with other methodologies that result in considerable background material from other, non-targeted chromosomes. NGS results compared between two platforms, NextSeq 500 and SOLID 5500xl, produce the same coverage results. This is the first study to explore a methodological comparison of Y chromosome capture and genetic analysis. Our results indicate an improved strategy for Y chromosome research with applications in several scientific fields where this chromosome plays an important role, such as forensics, medical sciences, molecular anthropology and cancer sciences.

Asociación de absceso cerebral y malformación arteriovenosa pulmonar / Brain abscess and pulmonary arteriovenous malformation

No disponible

Genetic markers a landscape in prostate cancer.

Prostate cancer (PC) is one of the most common cancers worldwide. The observed variability in progression and responses to the same treatment between patients underlie the genetic heterogeneity of the disease. Nowadays, screening and follow-up biomarkers in PC are still having a deep lack of information, which makes difficult the cancer diagnosis, prognosis and the selection of the most suitable therapies. This is making that currently unnecessary biopsies, over-treatments and hormonoresistances have high rates of prevalence among patients. New biomarkers are urgently needed and in this sense genomic biomarkers could be the most suitable tools. These genetic markers will be helpful for improving the precision of prognostic and the predictive current tools which are employed in the clinical practice. A recent literature search up was conducted, including clinical trials and pre-clinical basic research studies. Keywords included germline variants, prostate cancer, biomarkers, androgen deprivation therapy, screening and liquid biopsy; among others. We have reviewed how germline variants, CNVs and repetitive regions are relevant to prostate carcinogenesis, treatment and progression. Moreover, we have also considered novel biomarkers for PC prognosis based on differentially expressed genes. Finally, we have included new strategies in recent markers of liquid biopsy or updated technologies for minimal samples analysis. The improvement of genetic markers use and their application to the clinical practice, will enhance the variability of simple, non-invasive, tools such as liquid biopsy and germline variants, these will reduce the number of PC needle biopsies and current over-treatments that are usual in the management of this cancer.

Somatic Mutations in Prostate Cancer: Closer to Personalized Medicine.

The molecular cause of prostate cancer (PCa) is still unclear; however, its progression involves androgen, PI3K/Akt, and PTEN signaling, as cycle and apoptotic pathways. Alterations in oncogenes and tumor suppressor genes as PIK3CA, BRAF, KRAS and TP53 are not very common. Recently, somatic mutations have been discovered in relation to cancer progression mainly in genes such as PIK3CA; however, little data has been described in PCa. Nowadays genetic tools allow us to investigate multiple details about the biological heterogeneity of PCa, to better understand the mechanisms of disease progression and treatment resistance. Therefore, if the most relevant somatic mutations were included during screening, we could identify the best treatment for the right patient, bringing us closer to personalized medicine. The main objective of this article is to provide a review of the principal somatic mutations that appear to have a relevant role in hormonal cancers, like prostate cancer.

Frontoethmoidal osteoma with orbital extension. A case report. / Osteoma frontoetmoidal con extensión intraorbitaria. A propósito de un caso.

CASE REPORT: A case is presented of a right frontoethmoidal osteoma with intraorbital invasion in a 43-year-old male, who was seen in the clinic with a proptosis, retro-orbital pain, peri-palpebral inflammation, and binocular diplopia due to muscular route limitation. Open surgery was performed using a subcranial approach, with removal of several fragments of osteoma. Histological analysis confirmed the diagnosis. DISCUSSION: Osteomas are benign bone-forming tumours with slow growth. They are usually asymptomatic until mass effect complications occur in the brain or in the orbit, or locally, generating mucoceles due to sinus drainage obstruction.

[Cost of family planning care in 10-19 years old teenagers]. / Costo de atención por servicios de planificación familiar a adolescentes de 10-19 años.

Objetives: To identify the costs of family planning care in adolescents. Material and methods: Longitudinal study of the cost of care for family planning carried out in 2015 in a group of individuals with age limits of 10 and 19 years in a unit first level of health care in the state of Queretaro, Mexico. The profile of use of family planning (FP) was created for the teen was performed services through counseling, provision of contraception and review of intrauterine device (IUD) in a year; cost projections for the population of adolescents and different coverage scenarios between 5 and 100% were made. Results: The average annual cost was 228.84 Mexican pesos. Ideally the identified cost was 2,708.94 pesos. The projection with 20 % coverage was 207,251,330 pesos. The average annual family planning consultations was 0.9. The most commonly used method was with medroxyprogesterone-estradiol at doses of 25 and 5 mg. Conclusion: The cost of planning in adolescents is low, taking into account the costs that the care of high-risk pregnancies and associated comorbidities.

Characterisation of genetic structure of the Mayan population in Guatemala by autosomal STR analysis.

BACKGROUND: Currently, the Guatemalan population comprises genetically isolated groups due to geographic, linguistic and cultural factors. For example, Mayan groups within the Guatemala population have preserved their own language, culture and religion. These practices have limited genetic admixture and have maintained the genetic identity of Mayan populations. AIM: This study is designed to define the genetic structure of the Mayan-Guatemalan groups Kaqchiquel, K'iche', Mam and Q'eqchi' through autosomal short tandem repeat (STR) polymorphisms and to analyse the genetic relationships between them and with other Mayan groups. SUBJECTS AND METHODS: Fifteen STR polymorphisms were analysed in 200 unrelated donors belonging to the Kaqchiquel (n = 50), K'iche' (n = 50), Mam (n = 50) and Q'eqchi' (n = 50) groups living in Guatemala. Genetic distance, non-metric MDS and AMOVA were used to analyse the genetic relationships between population groups. RESULTS: Within the Mayan population, the STRs D18S51 and FGA were the most informative markers and TH01 was the least informative. AMOVA and genetic distance analyses showed that the Guatemalan-Native American populations are highly similar to Mayan populations living in Mexico. CONCLUSIONS: The Mayan populations from Guatemala and other Native American groups display high genetic homogeneity. Genetic relationships between these groups are more affected by cultural and linguistic factors than geographical and local flow. This study represents one of the first steps in understanding Mayan-Guatemalan populations, the associations between their sub-populations and differences in gene diversity with other populations. This article also demonstrates that the Mestizo population shares most of its ancestral genetic components with the Guatemala Mayan populations.

Genetic identification of missing persons: DNA analysis of human remains and compromised samples.

Human identification has made great strides over the past 2 decades due to the advent of DNA typing. Forensic DNA typing provides genetic data from a variety of materials and individuals, and is applied to many important issues that confront society. Part of the success of DNA typing is the generation of DNA databases to help identify missing persons and to develop investigative leads to assist law enforcement. DNA databases house DNA profiles from convicted felons (and in some jurisdictions arrestees), forensic evidence, human remains, and direct and family reference samples of missing persons. These databases are essential tools, which are becoming quite large (for example the US Database contains 10 million profiles). The scientific, governmental and private communities continue to work together to standardize genetic markers for more effective worldwide data sharing, to develop and validate robust DNA typing kits that contain the reagents necessary to type core identity genetic markers, to develop technologies that facilitate a number of analytical processes and to develop policies to make human identity testing more effective. Indeed, DNA typing is integral to resolving a number of serious criminal and civil concerns, such as solving missing person cases and identifying victims of mass disasters and children who may have been victims of human trafficking, and provides information for historical studies. As more refined capabilities are still required, novel approaches are being sought, such as genetic testing by next-generation sequencing, mass spectrometry, chip arrays and pyrosequencing. Single nucleotide polymorphisms offer the potential to analyze severely compromised biological samples, to determine the facial phenotype of decomposed human remains and to predict the bioancestry of individuals, a new focus in analyzing this type of markers.

Estudio genético de RNASEL en cáncer de próstata y su relación con la estadificación clínica / RNASEL Study of Genetics of Prostate Cancer and its Relation to Clinical Staging

Objetivos: Mediante este estudio se pretende buscar una posible relación genética en el cáncer de próstata esporádico, para intentar establecer subgrupos poblacionales en los pacientes en función del genotipo encontrado y la agresividad del cáncer. Material y métodos: Doscientos treinta y un pacientes con cáncer prostático esporádico y 68 individuos control, todos seleccionados según criterios de parámetros clínicos (grado de PSA, escala de Gleason...) por el urólogo especialista. Ambos grupos (pacientes y controles) han sido genotipados mediante técnicas de secuenciación en los exones 1 y 3 del gen RNASEL. Resultados: Se han encontrado diferencias significativas entre controles y pacientes en algunas de las regiones genotipadas del gen RNASEL (I97L,D541E y R462Q). Conclusiones: Gracias a la caracterización del perfil genético en determinadas regiones del genoma, como el gen RNASEL, junto con la combinación de los parámetros clínicos y ambientales podemos generar una medicina y seguimiento más personalizado de cada individuo (AU)

Objectives: This study has aimed to find a possible genetic relationship between sporadic prostate cancers. An attempt is made to establish population subgroups in patients based on the genotype found and the aggressiveness of the cancer. Material and methods: A total of 231 patients with sporadic prostate cancer and 68 controls were selected. The subjects were selected by an urologist using clinical parameters such as PSA level and Gleason score. Both groups (patients and controls) were genotyped in RNASEL gene by sequencing the exons 1 and 3. Results: Statistically significant differences were found between controls and patients in some of the genotyped regions of the RNASEL gene (I97L, D541E and R462Q).Conclusions: Thanks to the genetic profile in some regions of the genoma, such as the RNASEL gene, together with the combination of the clinical and environmental parameters, we can suggest a care and more personalized follow-up of each patient (AU)

[RNASEL study of genetics of prostate cancer and its relation to clinical staging]. / Estudio genético de RNASEL en cáncer de próstata y su relación con la estadificación clínica.

OBJECTIVES: This study has aimed to find a possible genetic relationship between sporadic prostate cancers. An attempt is made to establish population subgroups in patients based on the genotype found and the aggressiveness of the cancer. MATERIAL AND METHODS: A total of 231 patients with sporadic prostate cancer and 68 controls were selected. The subjects were selected by an urologist using clinical parameters such as PSA level and Gleason score. Both groups (patients and controls) were genotyped in RNASEL gene by sequencing the exons 1 and 3. RESULTS: Statistically significant differences were found between controls and patients in some of the genotyped regions of the RNASEL gene (I97L, D541E and R462Q). CONCLUSIONS: Thanks to the genetic profile in some regions of the genoma, such as the RNASEL gene, together with the combination of the clinical and environmental parameters, we can suggest a care and more personalized follow-up of each patient.

Predictive value in the analysis of RNASEL genotypes in relation to prostate cancer.

BACKGROUND: We would like to compare the different RNASEL genotypes with the stage of the cancer using parameters such as PSA levels, Gleason score and T-stage, and to develop a clinical protocol for the monitoring of the disease for trying a better evolution of the patient. METHODS: A total of 231 patients with sporadic prostate cancer and 100 of controls were genotyped in RNASEL gene by sequencing the exons 1 and 3. A survey of clinical information was collected by a specialist following the Helsinki protocol. All patients and controls were interviewed by a researcher and signed their informed consent to participation in the study, which was approved by Ethics Committee of the hospital. The genetic information was processed and collected with an ABI PRISM Genetic Analyser 3130 using SeqScape software v.2.6. All the patients were analysed by comparing the genetic and clinical data. χ(2)-tests, Monte Carlo, Fisher tests and contigency tables were performed using SPSS v.15.0 and ARLEQUIN v.3.5 software on patient population. RESULTS: Significant differences were found only between patients and controls in D541E, R461Q and I97L genotypes, the remainder of the variants did not seem relevant to our population in contrast to other populations, such as north-Caucasians, Afro Americans and Ashkenazi Jews. The genotypes associated with the worst prognoses are G/G in D541E, A/A in R462Q and A/G in I97L. The controls were included in our study to determine an approximation of the genotype in our population compared with the patients, but they did not account for the statistical process. CONCLUSIONS: The genetic profile of patients with this cancer combined with other parameters could be used as a prognosis factor in deciding to give more radical and frequent treatments, depending on personal genotype.

Genetic variation of 15 autosomal microsatellite loci in a Nayarit population (Mexico).

Fifteen STRs are studied to determine the allele frequencies' distribution and to evaluate the homogeneity of Nayarit populations. This study allows the identification of forensic efficiency parameters to be used in forensic genetics and to explore the genetic similarities between Nayarit and the neighboring countries such as Mexico, Brazil, Puerto Rico, Guatemala, Honduras, Bolivia and Costa Rica. The Hardy-Weinberg equilibrium, expected heterozygosity, matching probability, and power of discrimination, were calculated in the Nayarit population. We found that with respect to the studied markers, Nayarit genetic structure is homogeneous. In this study, it is established that Nayarit is genetically similar to the South American Mestizo population. The distribution of a set of these 15 STRs was analyzed with other South American populations as well as in the extensive set of neighboring populations from the literature (USA, Europe and Africa). We found significant differences exist between the isolated populations (Huastecos, Otomi from Sierra Madre and from Ixmiquilpan Valley) and Mestizo populations. Statistical analysis supports that Americans actual inhabitants and Europeans are genetically similar, while Africans and isolated populations from South America have more genetic differences.