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Cancer-related anorexia-cachexia syndrome (CACS) is a debilitating condition afflicting up to 80% of advanced-stage cancer patients. Characterized by progressive weight loss, muscle wasting, and metabolic abnormalities, CACS significantly compromises patients' quality of life and treatment outcomes. This comprehensive review navigates through its intricate physiopathology, elucidating its stages and diagnostic methodologies. CACS manifests in three distinct stages: pre-cachexia, established cachexia, and refractory cachexia. Early detection is pivotal for effective intervention and is facilitated by screening tools, complemented by nutritional assessments and professional evaluations. The diagnostic process unravels the complex interplay of metabolic dysregulation and tumor-induced factors contributing to CACS. Management strategies, tailored to individual patient profiles, encompass a spectrum of nutritional interventions. These include dietary counseling, oral nutritional supplements, and, when necessary, enteral nutrition and a judicious use of parenteral nutrition. Specific recommendations for caloric intake, protein requirements, and essential nutrients address the unique challenges posed by CACS. While pharmacological agents like megestrol acetate may be considered, their use requires careful evaluation of potential risks. At its core, this review underscores the imperative for a holistic and personalized approach to managing CACS, integrating nutritional interventions and pharmacological strategies based on a nuanced understanding of patient's condition.
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Anorexia , Caquexia , Neoplasias , Humanos , Caquexia/terapia , Caquexia/etiologia , Caquexia/diagnóstico , Anorexia/terapia , Anorexia/etiologia , Neoplasias/complicações , Sociedades Médicas , Qualidade de Vida , Oncologia , Avaliação NutricionalRESUMO
PURPOSE: This study aimed to develop a set of criteria and indicators to evaluate the quality of care of patients with head and neck cancer (HNC). METHODS: A systematic literature review was conducted to identify valuable criteria/indicators for the assessment of the quality of care in HNC. With the aid of a technical group, a scientific committee of oncologists specialised in HNC used selected criteria to propose indicators that were evaluated with a two-round Delphi method. Indicators on which consensus was achieved were then prioritised by the scientific committee to develop a final set of indicators. RESULTS: We proposed a list of 50 indicators used in the literature or developed by us to be evaluated with a Delphi method. There was consensus on the appropriateness of 47 indicators in the first round; the remaining 3 achieved consensus in the second round. The 50 indicators were scored to prioritise them, leading to a final selection of 29 indicators related to structure (3), process (22), or outcome (4) and covering diagnosis, treatment, follow-up, and health outcomes in patients with HNC. Easy-to-use index cards were developed for each indicator, with their criterion, definition, formula for use in real-world clinical practice, rationale, and acceptable level of attainment. CONCLUSIONS: We have developed a set of 29 evidence-based and expert-supported indicators for evaluating the quality of care in HNC, covering diagnosis, treatment, follow-up, and health outcomes.
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OBJECTIVE: To compare the efficacy of rotator interval (RI) vs posterior approach (PA) ultrasound (US) guided corticosteroid injections into the glenohumeral (GH) joint in primary frozen shoulder (PFS). DATA SOURCES: A systematic literature search for all relevant studies on Medline, Scopus, Embase, Web of Science, and Cochrane Central, up to January 2023 was conducted. STUDY SELECTION: Randomized controlled trials that directly compared the US-guided corticosteroid injection into the RI and GH joint using PA in patients clinically and radiographically diagnosed with PFS. DATA EXTRACTION: The primary outcome was pain, and the secondary outcomes were function, and range of motion (ROM). Two authors independently assessed the risk of bias using the Cochrane risk-of-bias tool version 2. A random-effects model and generic inverse variance method were performed. Effect sizes were estimated using mean difference (MD) and standardized mean difference (SMD). DATA SYNTHESIS: A total of 5 clinical trials involving 323 subjects were included for the meta-analysis. US-guided corticosteroid injections into the RI revealed significant pain relief (MD 1.33 [95% confidence interval (CI) 0.20 to 2.46]; P=.02) and significant functional improvement (SMD 1.31 [95% CI 0.11 to 2.51]; P=.03) compared with the PA after 12 weeks. CONCLUSION: The results suggest the injection of corticosteroid into RI space is more effective than PA after 12 weeks in improving both pain and functional scores in patients with PFS.
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Corticosteroides , Bursite , Humanos , Injeções Intra-Articulares , Ensaios Clínicos Controlados Aleatórios como Assunto , Corticosteroides/uso terapêutico , Dor/tratamento farmacológico , Bursite/diagnóstico por imagem , Bursite/tratamento farmacológico , Ultrassonografia de Intervenção/métodos , Dor de Ombro/tratamento farmacológicoRESUMO
Background: Overwhelming requirements, a high degree of work, and prolonged exposure to emotionally demanding circumstances in work and life settings can lead to burnout syndrome. The purpose of the study is to assess burnout syndrome and its associated factors among medical students during the COVID-19 pandemic. Methods: A cross-sectional, prospective, descriptive study was conducted in a Mexican medical school during the last week of the spring semester of 2021 using the Maslach Burnout Inventory-Student Survey (MBI-SS) and an associated factors survey. Results: Based on the MBI-SS definition, most students (54.2%, n = 332) had burnout symptoms and high emotional exhaustion (79.6%, n = 448), high cynicism (57.3%, n = 351), and low academic effectiveness (36.4%, n = 223). After adjusting the associated factors, a significant correlation between the school year and the presence of burnout was identified (OR 1.127, 95% CI [1.023-1.241], p<0.05). Regarding the current pandemic, the death of a family member by COVID-19 also put students at risk of developing burnout (OR 1.598*, 95% CI [1.080-2.363, p<0.05]). Limitations: The main limitation of this study was the lack of a control group (before the pandemic); therefore, the high prevalence of burnout can only be hypothesized due to the pandemic but cannot be objectively evidenced. A prospective study after the pandemic is needed to resolve this question. Conclusion: The coronavirus pandemic represents a challenge to the academic and psychological stability of students. It essential to continue assessing burnout levels in medical students and the general population to treat them in time and improve mental health.
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BACKGROUND: Hyaluronic acid (HA) filler application is one of the most frequent minimally invasive aesthetic procedures used worldwide. Its properties and characterization, performance, effects in other tissues, and response to complication treatments have been studied in several animal models. This review aims to categorize animal models considering the advantages and disadvantages regarding the purpose of the study. METHODS: Literature research was made using MEDLINE via PubMed by two reviewers using keywords "hyaluronic acid" "filler" and "animal model". Full-text articles published in English and with an in vivo animal model were included for data extraction. RESULTS: The rat model was the most common animal used to evaluate properties or characteristics and degradation of HA fillers. Rabbits were preferred for evaluating HA embolism treatments; however, anatomical names of the arteries differ in some studies. Mice and rats used as vascular occlusion model are challenging due to the size of the vessels and viscosity of the filler. CONCLUSION: There is a wide variability of options of in vivo animal models to evaluate HA fillers. The animal characteristics, laboratory resources, and HA properties should be considered in accordance with the objective of the study, when choosing the ideal model. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each submission to which Evidence-Based Medicine rankings are applicable. This excludes Review Articles, Book Reviews, and manuscripts that concern Basic Science, Animal Studies, Cadaver Studies, and Experimental Studies. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .
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Preenchedores Dérmicos , Embolia , Coelhos , Animais , Camundongos , Ratos , Ácido Hialurônico/farmacologia , Injeções Subcutâneas , ArtériasRESUMO
Near-peer teaching has been widely implemented in medical schools and the benefits for the near-peer teachers (NPTs), the students, and the institution have been well documented. However, NPT training methods and perceptions of such have been limited. A four-year clinical anatomy and surgical training program was established (est. 2019) as part of the continuous training timeline for NPTs (n > 60 total) formation at the Universidad Autónoma de Nuevo León, in Mexico. The program provides various training courses for the NPTs according to their hierarchy, including teaching skills, professional development, psychosocial aspects, and career objectives. A "Clinical Anatomy and Surgical Training Diploma" was planned with 12 modules to aid in developing these abilities, along with a higher understanding of clinical anatomy shared by expert clinical specialists, and diverse clinical and surgical skills such as suturing, catheterization, and basic surgical procedures. The program has a completion rate of approximately 15 NPTs/year. All, while creating an environment with a sense of belonging, and facilitating mentorship between fellow NPTs and educators. Near-peer teachers develop leadership, communication, and teaching skills. The program has provided a constant source of anatomy educators, avoiding any shortage.
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Anatomistas , Anatomia , Educação de Graduação em Medicina , Estudantes de Medicina , Humanos , Anatomia/educação , Estudantes de Medicina/psicologia , Educação de Graduação em Medicina/métodos , Grupo Associado , Currículo , EnsinoRESUMO
Background: Plasma lipid levels are a major risk factor for cardiovascular diseases. Although international efforts have identified a group of loci associated with the risk of dyslipidemia, Latin American populations have been underrepresented in these studies. Objective: To know the genetic variation occurring in lipid-related loci in the Mexican population and its association with dyslipidemia. Methods: We searched for single-nucleotide variants in 177 lipid candidate genes using previously published exome sequencing data from 2838 Mexican individuals belonging to three different cohorts. With the extracted variants, we performed a case-control study. Logistic regression and quantitative trait analyses were implemented in PLINK software. We used an LD pruning using a 50-kb sliding window size, a 5-kb window step size and a r2 threshold of 0.1. Results: Among the 34251 biallelic variants identified in our sample population, 33% showed low frequency. For case-control study, we selected 2521 variants based on a minor allele frequency ≥1% in all datasets. We found 19 variants in 9 genes significantly associated with at least one lipid trait, with the most significant associations found in the APOA1/C3/A4/A5-ZPR1-BUD13 gene cluster on chromosome 11. Notably, all 11 variants associated with hypertriglyceridemia were within this cluster; whereas variants associated with hypercholesterolemia were located at chromosome 2 and 19, and for low high density lipoprotein cholesterol were in chromosomes 9, 11, and 19. No significant associated variants were found for low density lipoprotein. We found several novel variants associated with different lipemic traits: rs3825041 in BUD13 with hypertriglyceridemia, rs7252453 in CILP2 with decreased risk to hypercholesterolemia and rs11076176 in CETP with increased risk to low high density lipoprotein cholesterol. Conclusions: We identified novel variants in lipid-regulation candidate genes in the Mexican population, an underrepresented population in genomic studies, demonstrating the necessity of more genomic studies on multi-ethnic populations to gain a deeper understanding of the genetic structure of the lipemic traits.
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Most guidelines fail to specify patient positioning during central venous catheterization. The objective was to determine the effects of head-down tilt (Trendelenburg position) and head rotation on the internal jugular vein (IJV). A prospective, observational, longitudinal, and descriptive study using healthy adult volunteers, of both sexes, was performed. The change in position and cross-sectional areas (CSA) of the right IJV and common carotid artery (CA) were measured by ultrasonography during Trendelenburg position (TP) (0°, 5°, 10°, and 15°) and contralateral head-rotation (HR) (0°, 45°, and 90°) for a total of 12 positions. The neutral supine position was first, randomizing the other 11 positions, with 5-min rest intervals in between. Vital signs and symptoms were recorded. A total of 54 volunteers were recruited between the ages of 21 and 32, of which 30 were men. Any degree of TP or HR significantly increased the CSA. The largest area obtained was 1.78 cm2 with a TP15HR90 which did not have a statistical difference with TP10HR45 1.59 cm2 . A HR90 tended to displace the IJV medially, overlaying the CA. Any degree of TP or HR will significantly increase CSA or the right IJV. A 5° to 10° TP is recommended when the patient's condition allows it, with a 45° HR, without significantly displacing the IJV anterior to the CCA.
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Cateterismo Venoso Central , Veias Jugulares , Adulto , Cateterismo Venoso Central/efeitos adversos , Feminino , Decúbito Inclinado com Rebaixamento da Cabeça , Humanos , Veias Jugulares/diagnóstico por imagem , Masculino , Estudos Prospectivos , Decúbito Dorsal , Ultrassonografia , Adulto JovemRESUMO
The genetic makeup of Indigenous populations inhabiting Mexico has been strongly influenced by geography and demographic history. Here, we perform a genome-wide analysis of 716 newly genotyped individuals from 60 of the 68 recognized ethnic groups in Mexico. We show that the genetic structure of these populations is strongly influenced by geography, and our demographic reconstructions suggest a decline in the population size of all tested populations in the last 15-30 generations. We find evidence that Aridoamerican and Mesoamerican populations diverged roughly 4-9.9 ka, around the time when sedentary farming started in Mesoamerica. Comparisons with ancient genomes indicate that the Upward Sun River 1 (USR1) individual is an outgroup to Mexican/South American Indigenous populations, whereas Anzick-1 was more closely related to Mesoamerican/South American populations than to those from Aridoamerica, showing an even more complex history of divergence than recognized so far.
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Etnicidade/genética , Genoma Humano , Migração Humana/história , Indígenas Norte-Americanos/genética , Filogenia , Dinâmica Populacional/estatística & dados numéricos , Etnicidade/classificação , Variação Genética , Genômica/métodos , História Antiga , Humanos , Indígenas Norte-Americanos/classificação , México , FilogeografiaRESUMO
Adipogenesis regulation is crucial for mature adipocyte function. In obesity, a major driver of type 2 diabetes (T2D), this process is disrupted and remains poorly characterized. Here we identified altered DNA methylation profiles in diabetic obese patients, during three adipocytes differentiation stages. We isolated mesenchymal cells from visceral adipose tissue of obese patients with and without T2D to analyse DNA methylation profiles at 0, 3, and 18 days of ex vivo differentiation and documented their impact on gene expression. Methylation and gene expression were analysed with EPIC and Clarion S arrays, respectively. Patients with T2D had epigenetic alterations in all the analysed stages, and these were mainly observed in genes important in adipogenesis, insulin resistance, cell death programming, and immune effector processes. Importantly, at 3 days, we found six-fold more methylated CpG alterations than in the other stages. This is the first study to document epigenetic markers that persist through all three adipogenesis stages and their impact on gene expression, which could be a cellular metabolic memory involved in T2D. Our data provided evidence that, throughout the adipogenesis process, alterations occur in methylation that might impact mature adipocyte function, cause tissue malfunction, and potentially, lead to the development of T2D.
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Diabetes Mellitus Tipo 2 , Células-Tronco Mesenquimais , Adipogenia/genética , Tecido Adiposo/metabolismo , Diferenciação Celular , Metilação de DNA , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/metabolismo , Epigênese Genética , Humanos , Obesidade/genética , Obesidade/metabolismoRESUMO
BACKGROUND: The optimal management of localized gallbladder perforation (Neimeier type II) has yet to be defined. The aim of this systematic review was to identify factors associated with improved patient outcomes. METHODS: Systematic review of studies that described the management of Neimeier type II perforation, reported complications of the first intervention, necessity of added interventions, resolution of the pathology, and days of hospital stay were included. The search strategy was conducted in EMBASE, Mayo Journals, MEDLINE, SCOPUS, and Web of Science (December 2020) RESULTS: A total of 122 patients (53% male) from case reports, series, and cohorts were included for analysis. In total 56 (46%) and 44 (36%)patients were treated with open and laparoscopic cholecystectomy respectively. Overall risk of bias was moderate. The need for another intervention was higher in the laparoscopic group (5 vs 17, p=<0.001) as well as prevalence of complications (4 vs 16, p=<0.001), but lower for days of hospital stay (median days 5. vs 15, p = 0.008) against open cholecystectomy. Preoperative percutaneous catheter drainage did not influence outcome. CONCLUSION: Open cholecystectomy has a lower need for further surgical procedures and postoperative complications, but a longer hospital stay. These outcomes did not vary with preoperative percutaneous drainage. The effect of timing of cholecystectomy did not influence the outcomes.
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Colecistectomia Laparoscópica , Colecistite Aguda , Doenças da Vesícula Biliar , Colecistectomia/efeitos adversos , Colecistectomia Laparoscópica/efeitos adversos , Colecistite Aguda/cirurgia , Drenagem , Feminino , Vesícula Biliar , Doenças da Vesícula Biliar/diagnóstico por imagem , Doenças da Vesícula Biliar/cirurgia , Humanos , Masculino , Prognóstico , Resultado do TratamentoRESUMO
BACKGROUND: Acquisition of Basic Surgical Skills (BSS) are essential for medical students. The objective was to determine it's fidelity impact. METHODS: Using four suturing models (SM) (pigskin, sponge, commercial pad, and orange), SM-quality and student-SM interaction were evaluated. After a 1-h class, participants were divided into groups and randomly assigned exercises in SM in 15-min intervals. The experiment included completing three individual simple stitches and a 3-stitch continuous suture in each SM. RESULTS: Eighty-two medical students participated. Suturing quality was better in pigskin and sponge, which were also the preferred models (p < 0.001). Significant differences in quality between the insertion and exit point, and firmness of knots (p < 0.05) in both simple and continuous sutures, as well as between length and distance in continuous ones (p < 0.001) were identified. CONCLUSIONS: Acquisition and quality of BSS are influenced by the intrinsic characteristics of SM. An adequate degree of resistance, consistency, and elasticity are necessary.
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Estudantes de Medicina , Técnicas de Sutura , Competência Clínica , Humanos , Percepção , SuturasRESUMO
Anatomical sciences curricula have been under constant reform over the years, with many countries having to reduce course hours while trying to preserve laboratory time. In Mexico, schools have historically been autonomous and unregulated, and data regarding structure and methods are still lacking. A national survey was sent by the Mexican Society of Anatomy to 110 anatomical sciences educators. The questionnaire consisted of 50 items (open and multiple choice) for gross anatomy, microscopic anatomy, neuroanatomy, and embryology courses in medical schools across Mexico. A clinical approach was the most common course approach in all disciplines. Contact course hours and laboratory hours were higher in Mexican anatomy education compared to other countries, with the highest reported contact hours for embryology (133.4 ± 44.1) and histology (125 ± 33.2). There were similar contact hours to other countries for gross anatomy (228.5 ± 60.5). Neuroanatomy course hours (43.9 ± 13.1) were less than reported by the United States and similar to Saudi Arabia and higher than the United Kingdom. Dissection and microscopy with histological slides predominate as the most common laboratory activities. Traditional methods prevail in most of the courses in Mexico and only a few educators have implemented innovative and technological tools. Implementation of new methods, approaches, and curricular changes are needed to enhance anatomical sciences education in Mexico.
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Anatomia , Anatomia/educação , Currículo , México , Faculdades de Medicina , Inquéritos e Questionários , Estados UnidosRESUMO
BACKGROUND: An Amerindian genetic background could play an important role in susceptibility to metabolic diseases, which have alarmingly increased in recent decades. Mexico has one of the highest prevalences of metabolic disease worldwide. The purpose of this study was to determine the prevalence of metabolic syndrome and its components in a population with high Amerindian ancestry. METHODS: We performed a descriptive, quantitative, and analytical cross-sectional study of 2596 adult indigenous volunteers from 60 different ethnic groups. Metabolic syndrome and its components were evaluated using the American Heart Association/National Heart, Lung, and Blood Institute Scientific Statement criteria. RESULTS: The overall prevalence of metabolic syndrome in the indigenous Mexican population was 50.3%. Although females had a higher prevalence than males (55.6% vs. 38.2%), the males presented with combinations of metabolic syndrome components that confer a higher risk of cardiovascular disease. The most frequent metabolic syndrome component in both genders was low HDL-cholesterol levels (75.8%). Central obesity was the second most frequent component in females (61%), though it had a low prevalence in males (16.5%). The overall prevalence of elevated blood pressure was 42.7% and was higher in males than females (48.8 vs. 40%). We found no gender differences in the overall prevalence of elevated triglycerides (56.7%) or fasting glucose (27.9%). CONCLUSIONS: We documented that individuals with Amerindian ancestry have a high prevalence of metabolic syndrome. Health policies are needed to control the development of metabolic disorders in a population with high genetic risk.
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Indígenas Norte-Americanos/estatística & dados numéricos , Síndrome Metabólica/epidemiologia , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Síndrome Metabólica/etnologia , México/epidemiologia , Pessoa de Meia-Idade , Obesidade Abdominal/epidemiologia , Obesidade Abdominal/etnologia , Prevalência , Fatores de RiscoRESUMO
The Mexican population is characterized by high and particular admixture, and the picture of variants associated with disease remains unclear. Here we investigated the distribution of single nucleotide polymorphisms (SNPs) in the Mexican population. We focused on two non-synonymous and three synonymous SNPs in the beta-2 adrenergic receptor gene (ADRB2), which plays key roles in energy balance regulation. These SNPs were genotyped in 2,011 Mexican Amerindians (MAs) belonging to 62 ethnic groups and in 1,980 geographically matched Mexican Mestizos (MEZs). The frequency distribution of all five ADRB2 variants significantly differed between MAs, MEZs, and other continental populations (CPs) from the 1000 Genomes database. Allele frequencies of the three synonymous SNPs rs1042717A, rs1042718A, and rs1042719C were significantly higher in Mexican individuals, particularly among MAs, compared to in the other analyzed populations (P<0.05). The non-synonymous ADRB2 Glu27 allele (rs1042714G), which is associated with several common conditions, showed the lowest frequency in MAs (0.03) compared to other populations worldwide. Among MEZs, this allele showed a frequency of 0.15, intermediate between that in MAs and in Iberians (0.43). Moreover, Glu27 was the only SNP exhibiting a geographic gradient within the MEZ population (from 0.22 to 0.11), reflecting admixed mestizo ancestry across the country. Population differentiation analysis demonstrated that Glu27 had the highest FST value in MAs compared with Europeans (CEU) (0.71), and the lowest between MAs and Japanese (JPT) (0.01), even lower than that observed between MAs and MEZs (0.08). This analysis demonstrated the genetic diversity among Amerindian ethnicities, with the most extreme FST value (0.34) found between the Nahuatls from Morelos and the Seris. This is the first study of ADRB2 genetic variants among MA ethnicities. Our findings add to our understanding of the genetic contribution to variability in disease susceptibility in admixed populations.
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População Negra/genética , Etnicidade/genética , Genética Populacional/métodos , Indígenas Norte-Americanos/genética , Polimorfismo de Nucleotídeo Único/genética , Receptores Adrenérgicos beta 2/genética , População Branca/genética , Adulto , África/etnologia , Alelos , Europa (Continente)/etnologia , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Haplótipos/genética , Humanos , Masculino , México/etnologiaRESUMO
This study evaluates the progressive participation of enzymes involved in lipolysis and lipogenesis, leading to adipocyte hypertrophy in a metabolic syndrome (MS) rat model caused by chronic consumption of 30% sucrose in drinking water. A total of 70 male Wistar rats were divided into two groups: C and MS. Each of these groups were then subdivided into five groups which were sacrificed as paired groups every month from the beginning of the treatment until 5 months. The intra-abdominal fat was dissected, and the adipocytes were extracted. Lipoprotein lipase (LPL), hormone-sensitive lipase (HSL), protein kinases A (PKA), and perilipin A expressions were determined. The LPL and HSL activities were evaluated by spectrophotometry. Histological staining was performed in adipose tissue. Significant increases were observed in blood pressure, HOMA-IR, leptin, triglycerides, insulin, intra-abdominal fat, and number of fat cells per field (p = 0.001) and in advanced glycosylation products, adipocyte area, LPL, HSL activities and/or expression (p ≤ 0.01) in the MS groups progressively from the third month onward. Lipogenesis and lipolysis were increased by LPL activity and HSL activity and/or expression. This was associated with hyperinsulinemia and release of non-esterified fatty acids causing a positive feedback loop that contributes to the development of adipocyte hypertrophy.
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Gordura Abdominal/metabolismo , Lipogênese , Lipólise , Síndrome Metabólica/metabolismo , Gordura Abdominal/patologia , Animais , Proteínas Quinases Dependentes de AMP Cíclico/metabolismo , Sacarose Alimentar , Modelos Animais de Doenças , Progressão da Doença , Ácidos Graxos não Esterificados/metabolismo , Retroalimentação Fisiológica , Hiperinsulinismo/etiologia , Hiperinsulinismo/metabolismo , Hipertrofia , Lipase Lipoproteica/metabolismo , Masculino , Síndrome Metabólica/etiologia , Síndrome Metabólica/patologia , Perilipina-1/metabolismo , Ratos Wistar , Transdução de Sinais , Esterol Esterase/metabolismo , Fatores de TempoRESUMO
Amerindian ancestry appears to be a risk factor for metabolic diseases (MetD), making Mexicans an ideal population to better understand the genetic architecture of metabolic health. In this study, we determine the association of genetic variants previously reported with metabolic entities, in two Mexican populations, including the largest sample of Amerindians reported to date. We investigated the association of eigth single-nucleotide polymorphisms (SNPs) in AKT1, GCKR, and SOCS3 genes with different metabolic traits in 1923 Mexican Amerindians (MAs) belonging to 57 ethnic groups, and 855 Mestizos (MEZs). The allele frequency of 7/8 SNPs showed significant differences between MAs and MEZs. Interestingly, some alleles were monomorphic in particular ethnic groups, and highly frequent in other ones. With the exception of GCKR rs1260326T, as expected, all SNP frequencies in the MEZ population had intermediate values between its two main ancestral populations (MAs and Iberian populations in Spain [IBS]). We detected ethnic differences in linkage disequilibrium patterns and haplotype structure between MAs and MEZs, possibly due to the high genetic heterogeneity in these populations. Remarkably, AKT1 was associated with hypertension in MEZs, but not in MAs. GCKR was associated with protection against type 2 diabetes (T2D) in MAs, and with hypertriglyceridemia and protection against low HDL Cholesterol (HDL-C) levels in MEZs. The CAT haplotype in SOCS3 was associated with metabolic syndrome (MetS) in MEZs, and correlated with protection against high blood pressure (HBP) and risk for high waist circumference and T2D in MAs. Our results show differential genetic associations with metabolic traits between MAs and MEZs, possibly due to the differences in genetic structure between these Mexican populations.
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Proteínas Adaptadoras de Transdução de Sinal/genética , Diabetes Mellitus Tipo 2/genética , Síndrome Metabólica/genética , Polimorfismo de Nucleotídeo Único , Proteínas Proto-Oncogênicas c-akt/genética , Proteína 3 Supressora da Sinalização de Citocinas/genética , Adulto , Idoso , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Hipertensão/genética , Hipertrigliceridemia/genética , Desequilíbrio de Ligação , Masculino , México/etnologia , Pessoa de Meia-IdadeRESUMO
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Folate deficiency has been related to several conditions, including neural tube defects (NTDs) and cardiovascular diseases. Hence, MTHFR genetic variants have been studied worldwide, particularly the C677T and A1298C. We genotyped the C677T and A1298C MTHFR polymorphisms in Mexican Amerindians (MAs), from the largest sample included in a genetic study (n = 2026, from 62 ethnic groups), and in a geographically-matched Mexican Mestizo population (MEZ, n = 638). The 677T allele was most frequent in Mexican individuals, particularly in MAs. The frequency of this allele in both MAs and MEZs was clearly enriched in the South region of the country, followed by the Central East and South East regions. In contrast, the frequency of the 1298C risk allele in Mexicans was one of the lowest in the world. Both in MAs and MEZs the variants 677T and 1298C displayed opposite allele frequency gradients from southern to northern Mexico. Our findings suggest that in Mestizos the 677T allele was derived from Amerindians while the 1298C allele was a European contribution. Some subgroups showed an allele frequency distribution that highlighted their genetic diversity. Notably, the distribution of the frequency of the 677T allele was consistent with that of the high incidence of NTDs reported in MEZ.
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Predisposição Genética para Doença , Indígenas Norte-Americanos/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Defeitos do Tubo Neural/genética , Polimorfismo Genético , Alelos , Etnicidade , Frequência do Gene , Genótipo , Humanos , Masculino , MéxicoRESUMO
Introducción. La infección por el virus de la inmunodeficiencia humana (VIH) fue la segunda causa de mortalidad en adultos jóvenes residentes en Bucaramanga en 2013, después de las lesiones de causa externa. Objetivo. Establecer el grado de conocimiento sobre mecanismos de transmisión y estrategias de prevención del VIH en estudiantes de 13 a 20 años de colegios de las comunas pobres de Bucaramanga. Metodología. Estudio transversal con estudiantes, escogidos al azar, con encuesta anónima autodiligenciada. En el análisis, se describieron cada variable y modelos binomiales de asociación de las respuestas según edad, sexo, nivel académico y experiencia sexual previa. Resultados. Se encuestaron 729 estudiantes (57% mujeres); el 50,6% de los varones afirmaron haber tenido relaciones sexuales, así como el 31,1% de las mujeres. El 58,6% aseguraron que una persona que se veía saludable podía estar infectada. El 69,1% respondieron que podía transmitirse durante el embarazo; el 39,2%, durante el parto; el 37,7%, con la lactancia; el 79,7%, por medio de jeringas usadas por otros; el 29,5%, por compartir alimentos con personas infectadas; y el 31,7%, por mosquitos. El 70,6% consideraron que podía prevenir el VIH evitando relaciones sexuales; el 67,5%, si eran monógamos; y el 80,0%, usando correctamente condón. La proporción de respuestas adecuadas no estuvo relacionada con mayor nivel académico, edad, género o experiencia sexual. Conclusiones. La calidad del conocimiento sobre mecanismos de transmisión y prevención de la infección por VIH es muy deficiente, a pesar del currículo de educación sexual. El conocimiento no fue mejor en los grados académicos más altos.
Introduction. Human immunodeficiency virus (HIV) infection was the second most common cause of death, after injuries of external causes, among young adults from Bucaramanga in 2013. Objective. To establish the extent of knowledge on HIV mechanisms of transmission prevention strategies among schoolchildren in the age range of 13 to 20 years old from poor districts of Bucaramanga. Methodology. Cross-sectional study among randomly selected schoolchildren using a self-administered anonymous survey. For analysis, each outcome measure and binomial models for the association of answers by age, gender, education level and past sexual experience were described. Results. A survey was administered to 729 students (57% were girls); 50.6% of boys and 31.1% of girls reported having had sexual intercourse. Also, 58.6% stated that a healthy-looking person can have HIV. Besides, 69.1% indicated that HIV can be transmitted during pregnancy; 39.2%, during delivery; 37.7%, through breastfeeding; 79.7%, through needle sharing; 29.5%, by sharing food with someone who has HIV; and 31.7%, by mosquito bites. In addition, 70.6% considered that they could prevent HIV by abstaining from having sexual relationships; 67.5%, by having a single partner; and 80.0%, by wearing condoms correctly. The proportion of adequate answers was not related to a higher education level, age, gender or sexual experience. Conclusions. The quality of knowledge regarding HIV mechanisms of transmission and prevention is very poor, in spite of curricular contents providing sex education. It was observed that knowledge was not greater among those with higher education levels.
Assuntos
Humanos , Adolescente , Pobreza , Infecções por HIV/prevenção & controle , Infecções por HIV/transmissão , Conhecimentos, Atitudes e Prática em Saúde , Colômbia , Estudos TransversaisRESUMO
INTRODUCTION: Human immunodeficiency virus (HIV) infection was the second most common cause of death, after injuries of external causes, among young adults from Bucaramanga in 2013. OBJETIVE: To establish the extent of knowledge on HIV mechanisms of transmission prevention strategies among schoolchildren in the age range of 13 to 20 years old from poor districts of Bucaramanga. METHODOLOGY: Cross-sectional study among randomly selected schoolchildren using a self-administered anonymous survey. For analysis, each outcome measure and binomial models for the association of answers by age, gender, education level and past sexual experience were described. RESULTS: A survey was administered to 729 students (57% were girls); 50.6% of boys and 31.1% of girls reported having had sexual intercourse. Also, 58.6% stated that a healthy-looking person can have HIV. Besides, 69.1% indicated that HIV can be transmitted during pregnancy; 39.2%, during delivery; 37.7%, through breastfeeding; 79.7%, through needle sharing; 29.5%, by sharing food with someone who has HIV; and 31.7%, by mosquito bites. In addition, 70.6% considered that they could prevent HIV by abstaining from having sexual relationships; 67.5%, by having a single partner; and 80.0%, by wearing condoms correctly. The proportion of adequate answers was not related to a higher education level, age, gender or sexual experience. CONCLUSIONS: The quality of knowledge regarding HIV mechanisms of transmission and prevention is very poor, in spite of curricular contents providing sex education. It was observed that knowledge was not greater among those with higher education levels.
INTRODUCCIÓN: La infección por el virus de la inmunodeficiencia humana (VIH) fue la segunda causa de mortalidad en adultos jóvenes residentes en Bucaramanga en 2013, después de las lesiones de causa externa. OBJECTIVO: Establecer el grado de conocimiento sobre mecanismos de transmisión y estrategias de prevención del VIH en estudiantes de 13 a 20 anos de colegios de las comunas pobres de Bucaramanga. METODOLOGÍA: Establecer el grado de conocimiento sobre mecanismos de transmisión y estrategias de prevención del VIH en estudiantes de 13 a 20 anos de colegios de las comunas pobres de Bucaramanga. RESULTADOS: Se encuestaron 729 estudiantes (57% mujeres); el 50,6% de los varones afirmaron haber tenido relaciones sexuales, así como el 31,1% de las mujeres. El 58,6% aseguraron que una persona que se veía saludable podía estar infectada. El 69,1% respondieron que podía transmitirse durante el embarazo; el 39,2%, durante el parto; el 37,7%, con la lactancia; el 79,7%, por medio de jeringas usadas por otros; el 29,5%, por compartir alimentos con personas infectadas; y el 31,7%, por mosquitos. El 70,6% consideraron que podía prevenir el VIH evitando relaciones sexuales; el 67,5%, si eran monógamos; y el 80,0%, usando correctamente condón. La proporción de respuestas adecuadas no estuvo relacionada con mayor nivel académico, edad, género o experiencia sexual. CONCLUSIONES: La calidad del conocimiento sobre mecanismos de transmisión y prevención de la infección por VIH es muy deficiente, a pesar del currículo de educación sexual. El conocimiento no fue mejor en los grados académicos más altos.