Variants of the ABCG2 gene in Mexican mestizo patients with prostate cancer.

ABCG2 transporter protein is one of several markers of prostate cancer stem cells (PCSCs). Gene variants of ABCG2 could affect protein expression, function, or both. The aim of this study was to identify the genetic variability of the ABCG2 gene in Mexican patients with prostate cancer.

Association Between the rs13306703 and rs8192288 Variants of the Gene and Breast Cancer and an In Silico Analysis of the Variants' Impact.

This study investigated the association between the rs13306703 and rs8192288 variants of the superoxide dismutase 3 () gene and breast cancer (BC) in the Mexican population, conducting both genetic and in silico analyses. 357 healthy women and 386 BC patients were studied using TaqMan assays, qPCR, and RFLP-PCR. The genotype and a recessive pattern of these variants were risk factors for BC ( < 0.

Sex Differences in Biochemical Analyses, Cardiometabolic Risk Factors and Their Correlation with CRP in Healthy Mexican Individuals.

Background: Few studies have been undertaken to detect the presence of cardiovascular risk factors (CRFs) in healthy populations (individuals auto-reported as healthy). These risk factors include high body mass index (BMI), high waist-to-hip ratio (WHR), high systolic and diastolic blood pressure (SBP, DBP), high uric acid and high Castelli's risk index (CRI); this last is the ratio of total cholesterol to HDL cholesterol (TC/HDL-c). In addition, the correlations between CRFs and the biomarker C-reactive protein (CRP) has not been explored in each sex.

Onco-Ontogeny of Squamous Cell Cancer of the First Pharyngeal Arch Derivatives.

Head and neck squamous cell carcinoma (H&NSCC) is an anatomic, biological, and genetic complex disease. It involves more than 1000 genes implied in its oncogenesis; for this review, we limit our search and description to the genes implied in the onco-ontogeny of the derivates from the first pharyngeal arch during embryo development. They can be grouped as transcription factors and signaling molecules (that act as growth factors that bind to receptors).

Association of CYP3A4-392A/G, CYP3A5-6986A/G, and ABCB1-3435C/T Polymorphisms with Tacrolimus Dose, Serum Concentration, and Biochemical Parameters in Mexican Patients with Kidney Transplant.

Unlabelled: Tacrolimus (TAC) is an immunosuppressant drug that prevents organ rejection after transplantation. This drug is transported from cells via P-glycoprotein (ABCB1) and is a metabolic substrate for cytochrome P450 (CYP) 3A enzymes, particularly CYP3A4 and CYP3A5. Several single-nucleotide polymorphisms (SNPs) have been identified in the genes encoding , , and , including CYP3A4-392A/G (rs2740574), CYP3A5 6986A/G (rs776746), and ABCB1 3435C/T (rs1045642).

Association of the rs1126616 and rs9138 Variants in the Gene among Mexican Patients with Systemic Lupus Erythematosus and Lupus Nephritis.

Systemic lupus erythematosus (SLE) is a multisystem disease considered a prototype of the main autoimmune disease and presents serious complications, such as lupus nephritis (LN), which generates a significant impact on morbidity and mortality. The gene encodes the osteopontin (OPN) protein, which plays a crucial role in the regulation of inflammation and immunity. The variants rs1126616 and rs9138 of this gene have been associated with the inflammatory response.

Sex Differences in the Atherogenic Risk Index in Healthy Mexican Population and Its Relationship with Anthropometric and Psychological Factors.

Dyslipidemia is a risk factor for cardiovascular disease and mortality; however, the association of this variable with a wide range of personal and psychological variables has not been researched. Therefore, the aim of this study was to compare lipid levels and anthropometric measures between sexes and to determine the association between personal and psychological variables with the atherogenic risk index (ARI). An adult population which auto-reported as healthy was invited to participate via social media and in person.

Association of Depression, Anxiety, Stress and Stress-Coping Strategies with Somatization and Number of Diseases According to Sex in the Mexican General Population.

Somatization and number of diseases are interrelated variables, whose association with stress-coping strategies, according to sex, has not been investigated. Therefore, the aim of this study was to investigate such association in a sample of the Mexican general population. The general population was invited to answer an electronic questionnaire via the social networks-e-mail, WhatsApp and Facebook-by the research team.

A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short-lived infant.

Background: Non-acrocentric satellited chromosomes mostly result from familial balanced insertions or translocations with p12 or p13 of any acrocentric. Although all non-acrocentrics have been involved, only 12 instances of chromosome 6 involvement are known.

Case Presentation: A female infant exhibited clinical features typical of 6qter deletions and also generalized hypertrichosis and synophrys, traits seldom reported in patients with similar imbalances or haploinsufficiency of ARID1B located in 6q25.

Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.

Williams-Beuren syndrome (WBS) has a prevalence of 1/7500-20000 live births and results principally from a deletion in 7q11.23 with a length of 1.5 Mb or 1.

New subtype of familial achondrogenesis type IA (Houston-Harris).

Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino).

Clinical Case: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A.

miRNA-24 Gene Sequence, DHFR -829C-T Genotypes, and Methotrexate Response in Mexican Patients with Rheumatoid Arthritis.

Aim: The present study looked for variation in the miRNA-24 sequence, and evaluated the associations between the dihydrofolate reductase (DHFR) gene-829 C-T polymorphism and plasma DHFR concentrations with response to methotrexate (MTX) treatment in Mexican patients with rheumatoid arthritis (RA).

Methods: A total of 135 women with RA were classified as responders (disease activity score [DAS28] <3.2) or nonresponders to MTX (DAS28 > 3.

[New subtype of familial achondrogenesis type IA (Houston-Harris)].

Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino).

Clinical Case: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A.

Determination of plasma lactate in the emergency department for the early detection of tissue hypoperfusion in septic patients.

Objective: To determine the validity of plasma lactate in the emergency department for the early detection of tissue hypoperfusion in septic patients.

Materials And Methods: Longitudinal descriptive study. Non probabilistic sampling for convenience.

Identification of beta-Lactamases and beta-Lactam-Related Proteins in Human Pathogenic Bacteria using a Computational Search Approach.

A systematic analysis of beta-lactamases based on comparative proteomics has not been performed thus far. In this report, we searched for the presence of beta-lactam-related proteins in 591 bacterial proteomes belonging to 52 species that are pathogenic to humans. The amino acid sequences for 19 different types of beta-lactamases (ACT, CARB, CifA, CMY, CTX, FOX, GES, GOB, IMP, IND, KPC, LEN, OKP, OXA, OXY, SHV, TEM, NDM, and VIM) were obtained from the ARG-ANNOT database and were used to construct 19 HMM profiles, which were used to identify potential beta-lactamases in the completely sequenced bacterial proteomes.

Influence of Anti-TNF and Disease Modifying Antirheumatic Drugs Therapy on Pulmonary Forced Vital Capacity Associated to Ankylosing Spondylitis: A 2-Year Follow-Up Observational Study.

Objective: To evaluate the effect of anti-TNF agents plus synthetic disease modifying antirheumatic drugs (DMARDs) versus DMARDs alone for ankylosing spondylitis (AS) with reduced pulmonary function vital capacity (FVC%).

Methods: In an observational study, we included AS who had FVC% <80% at baseline. Twenty patients were taking DMARDs and 16 received anti-TNF + DMARDs.

Polymorphisms rs12998 and rs5780218 in KiSS1 suppressor metastasis gene in Mexican patients with breast cancer.

Aims: KiSS1 is a metastasis suppressor gene associated with inhibition of cellular chemotaxis and invasion attenuating the metastasis in melanoma and breast cancer cell lines. Along the KiSS-1 gene at least 294 SNPs have been described; however the association of these polymorphisms as genetic markers for metastasis in breast cancer studies has not been investigated. Here we describe two simple PCR-RFLPs protocols to identify the rs5780218 (9DelT) and the rs12998 (E20K) KiSS1 polymorphisms and the allelic, genotypic, and haplotypic frequencies in Mexican general population (GP) and patients with benign breast disease (BBD) or breast cancer (BC).

The association between the 844ins68 polymorphism in the CBS gene and breast cancer.

Introduction: The cystathionine beta synthase (CBS) gene plays an important role in homocysteine metabolism because it catalyzes the first step of the transsulfuration pathway, during which homocysteine is converted to cystathionine. Polymorphisms of CBS have been associated with cancer.

Material And Methods: We examined the role of the 844ins68 polymorphism by comparing the genotypes of 371 healthy Mexican women with the genotypes of 323 Mexican women with breast cancer (BC).

PADI4 haplotypes in association with RA Mexican patients, a new prospect for antigen modulation.

Peptidyl arginine deiminase IV (PAD 4) is the responsible enzyme for a posttranslational modification called citrullination, originating the antigenic determinant recognized by anti-cyclic citrullinated peptide antibodies (ACPA). Four SNPs (single nucleotide polymorphisms) have been described in PADI4 gene to form a susceptibility haplotype for rheumatoid arthritis (RA); nevertheless, results in association studies appear contradictory in different populations. The aim of the study was to analyze if the presence of three SNPs in PADI4 gene susceptibility haplotype (GTG) is associated with ACPA positivity in patients with RA.

Effect of endovenous morphine vs. ketorolac on proinflammatory cytokines during postoperative analgesia in laparoscopic cholecystectomy.

Background: Postoperative pain is the main symptom following a surgical event and is related to an inflammatory process involving cytokine secretion. This type of pain is usually treated with opioids such as morphine, whose analgesic efficacy is well known. However, it is unknown when compared with ketorolac in measuring proinflammatory cytokine levels.

[Deficiency of adenosine desaminase (ADA): clinical, biochemical, molecular and treatment aspects].

Adenosine Desaminase (ADA) deficiency, is a purine metabolic disorder that cause severe combined immunodeficiency (SCID) due to the accumulation of toxic metabolites that primarily affects development, differentiation and function of T and B lymphocytes. In addition, some patients show neurological, renal and liver abnormalities, delayed in development, deafness and seizures. If the immune response is not restored, children with this disorder rarely survive; therefore, ADA deficiency must be suspected when difficulty gaining weight, recurrent infections and skeletal abnormalities are present.

[Non-syndromic cleft lip/cleft palate and C677T methylene-tetrahydrofolate reductase variant in Mexican children].

Background: Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common malformation. The aetiology is multifactorial. An incidence of 1.

47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development.

Objective: To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype.

Design: Case report.

Setting: División de Genética, Centro de Investigación Biomédica de Occidente and Hospital de Ginecología y Obstetricia, CMNO, Instituto Mexicano del Seguro Social.

[Fcgamma receptor polymorphisms and systemic lupus erythematosus].

The G Immunoglobulin Fc Receptors (FcgammaR) belong to the TNFR5 receptors family, of the immunoglobulin superfamily and are widely expressed in the immune system; their function follows in importance after the complement receptors for immunocomplexes clearance. On the other hand, the systemic lupus erythematosus (SLE) is the prototype of the autoimmune diseases mediated by immunocomplexes and several studies have shown an impaired handle of these ones in part due to dysfunction of the FcgammaR. Among all types of Fcgamma receptors, the FcgammaRIIA, FcgammaRIIB, FcgammaRIIIA and FcgammaRIIIB have well characterized polymorphisms that produce an alteration in the receptor function.