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1.
Prostate ; 81(3): 214-219, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33393689

RESUMO

BACKGROUND: The second gestational trimester is a very important period for male genital development. We analyzed the testicular and prostatic volume growth and compared them to the biometric parameters in human fetuses. METHODS: We studied 64 testes and 32 prostates from 32 fetuses, aged 10-22 weeks postconception. Fetuses were evaluated regarding total length, crown-rump length, and bodyweight. The same observer performed all the measurements. After testicular and prostatic dissection, the prostate and testicular length, width and thickness were recorded with the aid of computer programs (Image Pro and ImageJ software, version 1.46r). Testicular volume (TV) and prostatic volume (PV) were calculated using the ellipsoid formula. Statistical analysis was performed with the GraphPad Prism program (version 6.01). RESULTS: The fetuses presented PV between 6.1 and 297.18 mm2  (mean = 77.98 mm3 ). Linear regression analysis indicated that the PV in these fetuses increased significantly and positively with fetal age (r2 = .3120; p < .0001). We did not observe significant differences between the TV (right testis: 0.39-63.94 mm3 ; mean = 19.84 mm3 ; left testis: ​​​​​​0.52-55.37 mm3 , mean = 17.25 mm3 ). Linear regression analysis also indicated that the right and left TV (right: r2 = .6649; p < .0001 and left: r2 = .6792; p < .001) increased significantly and positively with fetal age. CONCLUSION: The prostatic growth was slower during the second gestational trimester, with significant correlations with fetal biometric parameters. The testicular growth was moderate and showed a significant correlation with fetal parameters during the studied period in human fetuses.

2.
Sci Rep ; 11(1): 27, 2021 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-33420099

RESUMO

Analyze the biometric parameters and the size (area) of abdominal wall defect (AWD) in fetuses with gastroschisis and omphaloceles and correlate them with the herniated internal organs. We studied 22 fetuses (11 with AWDs and 11 without anomalies). In all fetuses we evaluated the xiphopubic distance (XPD) and iliac crest distance (ICD). In fetuses with AWDs we dissected the abdominal wall and measured the width and length of the defect for calculating its area and studying the correlation between the size of the defect with the organs that were herniated. For statistical analysis, the Anova and Tukey post-test were used (p < 0.05). The XPD in the control group had mean of 4.2 mm (2.3-5.9; SD ± 1.11), while in the AWDs it was 4.2 mm (2.9-5.5; SD ± 0.98) (p = 0.4366). The ICD had mean values of 2.5 mm (1.6-3.4; SD ± 0.58) in the control group, and 2.3 mm (1.2-3.0; SD ± 0.56) in AWDs fetuses (p = 0.6963). The number of herniate organs do not have significant correlation with the area of the defect (r2 = 0.2504, p = 0.5068). There is no correlation between the size (area) of abdominal wall defects and the number of the internal organs that herniated. Therefore, the hole size is not a predictor of the severity of the gastroschisis or omphalocele.

3.
PLoS One ; 15(11): e0241282, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33147239

RESUMO

The American continent was the last to be occupied by modern humans, and native populations bear the marks of recent expansions, bottlenecks, natural selection, and population substructure. Here we investigate how this demographic history has shaped genetic variation at the strongly selected HLA loci. In order to disentangle the relative contributions of selection and demography process, we assembled a dataset with genome-wide microsatellites and HLA-A, -B, -C, and -DRB1 typing data for a set of 424 Native American individuals. We find that demographic history explains a sizeable fraction of HLA variation, both within and among populations. A striking feature of HLA variation in the Americas is the existence of alleles which are present in the continent but either absent or very rare elsewhere in the world. We show that this feature is consistent with demographic history (i.e., the combination of changes in population size associated with bottlenecks and subsequent population expansions). However, signatures of selection at HLA loci are still visible, with significant evidence selection at deeper timescales for most loci and populations, as well as population differentiation at HLA loci exceeding that seen at neutral markers.

4.
Hepatology ; 2020 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-32893372

RESUMO

BACKGROUND & AIMS: Gallbladder cancer (GBC) is a neglected disease with substantial geographical variability: Chile shows the highest incidence worldwide, while GBC is relatively rare in Europe. Here we investigate the causal effects of risk factors considered in current GBC prevention programmes as well as C-reactive protein (CRP) level as a marker of chronic inflammation. APPROACH & RESULTS: We applied two-sample Mendelian randomization (MR) using publicly available data and our own data from a retrospective Chilean and a prospective European study. Causality was assessed by inverse variance weighted (IVW), MR-Egger regression and weighted median estimates complemented with sensitivity analyses on potential heterogeneity and pleiotropy, two-step MR and mediation analysis. We found evidence for a causal effect of gallstone disease on GBC risk in Chileans (p = 9 × 10-5 ) and Europeans (p = 9 × 10-5 ). A genetically elevated body mass index (BMI) increased GBC risk in Chileans (p = 0.03), while higher CRP concentrations increased GBC risk in Europeans (p = 4.1 × 10-6 ). European results suggest causal effects of BMI on gallstone disease (p = 0.008); public Chilean data were not, however, available to enable assessment of the mediation effects among causal GBC risk factors. CONCLUSIONS: Two risk factors considered in the current Chilean programme for GBC prevention are causally linked to GBC risk: gallstones and BMI. For Europeans, BMI showed a causal effect on gallstone risk, which was itself causally linked to GBC risk.

5.
Sci Rep ; 10(1): 13706, 2020 08 13.
Artigo em Inglês | MEDLINE | ID: mdl-32792643

RESUMO

Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene sequencing data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixed Mexican patients. A total of 164 Mexican NMO patients and 1,208 controls were included. On average, NMO patients had a higher proportion of Native American ancestry than controls (68.1% vs 58.6%; p = 5 × 10-6). GWAS identified a HLA region associated with NMO, led by rs9272219 (OR = 2.48, P = 8 × 10-10). Class II HLA alleles HLA-DQB1*03:01, -DRB1*08:02, -DRB1*16:02, -DRB1*14:06 and -DQB1*04:02 showed the most significant associations with NMO risk. Local ancestry estimates suggest that all the NMO-associated alleles within the HLA region are of Native American origin. No novel or missense variants in the AQP4 gene were found in Mexican patients with NMO or multiple sclerosis. To our knowledge, this is the first study supporting the notion that Native American ancestry significantly contributes to NMO susceptibility in an admixed population, and is consistent with differences in NMO epidemiology in Mexico and Latin America.

6.
J Pediatr Surg ; 55(11): 2492-2496, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32037216

RESUMO

OBJECTIVES: Many studies of neonates have shown that renal pelvis ectasia is more common in boys. The aim of this study was to determine whether there are structural differences in the renal pelvis between male and female fetuses in the second trimester of gestation. MATERIAL AND METHODS: We studied 34 renal pelvises obtained from 34 human fetuses (17 males and 17 females), ranging in age from 13 to 23 weeks postconception. The renal pelvis tissue was stained with Masson's trichrome to quantify connective and smooth muscle cells (SMC). The tissue also was fixed for scanning electron microscopy (SEM) in a modified Karnovsky solution. The images were captured with an Olympus BX51 microscope and Olympus DP70 camera. The stereological analysis was done with the Image-Pro and ImageJ programs, using a grid to determine volumetric densities (Vv). Means were statistically compared using simple linear correlation and the Mann-Whitney test (p<0.05). RESULTS: Quantitative analysis indicated differences (p=0.0275) in Vv of connective tissue in male renal pelvises (mean=55.3%) compared to female ones (mean=51.46%). Quantitative analysis indicated a significant difference (p=0.0002) in SMC in male renal pelvises (mean=12.57%) compared to female ones (mean=16.22%). When we compared the SMC at different ages, we did not find any correlation in male (r2=0.2657, p=0.3027) or female fetuses (r2=0.3798, p=0.1326). When we compared the connective tissue at different ages, we did not find any correlation in female fetuses (r2=0.3798, p=0.2870), but we did observe a positive correlation between the connective tissue and age in male fetuses (r2=0.8308, p<0.0001). SEM showed that the collagen fibers had no differences between male and female. CONCLUSION: The renal pelvis presents significant structural differences between male and female fetuses. The renal pelvis in males had less SMC and presented a positive correlation of connective tissue with age and the renal pelvis in female had less connective tissue without correlation with the age. LEVEL OF EVIDENCE: III.

7.
Cancer Epidemiol ; 65: 101643, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32058310

RESUMO

BACKGROUND: The first large-scale genome-wide association study of gallbladder cancer (GBC) recently identified and validated three susceptibility variants in the ABCB1 and ABCB4 genes for individuals of Indian descent. We investigated whether these variants were also associated with GBC risk in Chileans, who show the highest incidence of GBC worldwide, and in Europeans with a low GBC incidence. METHODS: This population-based study analysed genotype data from retrospective Chilean case-control (255 cases, 2042 controls) and prospective European cohort (108 cases, 181 controls) samples consistently with the original publication. RESULTS: Our results confirmed the reported associations for Chileans with similar risk effects. Particularly strong associations (per-allele odds ratios close to 2) were observed for Chileans with high Native American (=Mapuche) ancestry. No associations were noticed for Europeans, but the statistical power was low. CONCLUSION: Taking full advantage of genetic and ethnic differences in GBC risk may improve the efficiency of current prevention programs.


Assuntos
Subfamília B de Transportador de Cassetes de Ligação de ATP/genética , Neoplasias da Vesícula Biliar/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Chile/epidemiologia , Europa (Continente)/epidemiologia , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Neoplasias da Vesícula Biliar/epidemiologia , Estudos de Associação Genética , Humanos , Índios Sul-Americanos/genética , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos Retrospectivos
8.
Urology ; 137: 183-189, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31926195

RESUMO

OBJECTIVE: To characterize the bulbospongiosus muscle (BSM) in patients with bulbar urethral strictures. MATERIALS AND METHODS: We studied 21 patients divided into 2 groups: Stricture Group (n = 14; mean age = 62.00 years) with bulbar stricture submitted to open urethroplasty; and Control Group (n = 7; mean age = 60.14 years) with penile strictures (hypospadias cripples, penile cancer and/or penile infection) who were submitted to perineal urethrostomy. Samples of the BSM were dissected and histologic sections were stained by histochemical and immunohistochemical techniques. Histomorphometric analyzes were performed on photomicrographs. Means were statistically compared using the unpaired Student t test and the Mann-Whitney test (P <.05). RESULTS: The etiology of bulbar urethral stricture was idiopathic in 2 cases (14.29%), post-TURP in 6 (42.86%), post open radical prostatectomy in 5 (35.71%) and post open prostatectomy in 1 case (7.14%). The average length of the stricture was 2.08 cm. The only parameter analyzed with significant difference between the groups was the vessels (significant difference between the control group: 5.11 ± 1.98% and stricture group: 3.57 ± 1.32%, P = .0460). The quantitative analysis of collagen (Control Group: 10.63 ± 5.37% and Stricture Group: 10.83 ± 4.55%, P = .9296); diameter of BSM muscle fibers (Control Group: 41.71 ± 14.63 µm and Stricture Group: 40.11 ± 8.59 µm, P = .76 and elastic system fibers (Control Group; 3.83 ± 1.54% and Stricture Group: 5.43 ± 2.90%, P = .2601) showed no significant difference. CONCLUSIONS: Histologic analysis showed a significant decrease of the BSM vessels in urethral stricture, without changes in elastic fibers, collagen, nerves, and muscle fiber diameter. These findings show that the bulbar urethral stricture causes minimal alterations in the structure of the BSM.


Assuntos
Doenças do Pênis , Pênis , Complicações Pós-Operatórias , Uretra , Estreitamento Uretral , Procedimentos Cirúrgicos Urológicos , Pesos e Medidas Corporais/métodos , Brasil , Constrição Patológica , Correlação de Dados , Técnicas de Imagem por Elasticidade/métodos , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Doenças do Pênis/diagnóstico , Doenças do Pênis/etiologia , Pênis/patologia , Pênis/cirurgia , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/patologia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Uretra/irrigação sanguínea , Uretra/inervação , Uretra/patologia , Uretra/cirurgia , Estreitamento Uretral/diagnóstico , Estreitamento Uretral/epidemiologia , Estreitamento Uretral/etiologia , Estreitamento Uretral/patologia , Procedimentos Cirúrgicos Urológicos/efeitos adversos , Procedimentos Cirúrgicos Urológicos/métodos
9.
J Pediatr Surg ; 55(10): 2221-2225, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31708209

RESUMO

BACKGROUND: To compare the growth of the prostate in anencephalic, prune belly syndrome (PBS) and control fetuses. METHODS: We studied 35 prostates from normal human fetuses aged 11-22 weeks postconception (WPC); 15 from anencephalic fetuses aged 13-19 WPC; and 6 from PBS fetuses aged 13-31WPC. After prostate dissection, we evaluated the prostate length, width and thickness with the aid of a computer program (Image Pro and Image J). The fetal prostate volume (PV) was calculated using the ellipsoid formula: PV = [length × thickness × width] × 0.523. The prostates were dissected and the PV was measured with the aid of the same computer program. Means were statistically compared using the unpaired t-test and linear regression was performed. RESULTS: In 2 PBS fetuses we observed prostatic atresia. We did not observe significant differences in PV when comparing the control group (PV: 6.1 to 313.81 mm, mean = 70.85 mm: SD = 71.43 mm) with anencephalic fetuses: p = 0.3575 (PV: 5.1 to 159.11 mm, mean = 42.94 mm; SD = 40.11 mm) and PBS fetuses: p > 0.999 (PV: 10.89 to 148.71 mm, mean = 55.4 mm; SD = 63.64 mm). The linear regression analysis indicated that the PV in the control group (r2 = 0.3096; p = 0.0004), anencephalic group (r2 = 0.3778; p = 0.0148) and PBS group (r2 = 0.9821; p < 0.009) increased significantly and positively with fetal age (p < 0.0001). CONCLUSIONS: We did not observe significant differences in development of the prostate in fetuses with anencephaly and in 2/3 of fetuses with PBS during the fetal period studied. In 1/3 of the PBS fetuses, the prostate had important atresia. LEVEL OF EVIDENCE: Level III.

10.
Acta Cir Bras ; 34(10): e201901005, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31851213

RESUMO

PURPOSE: To quantify and compare the expression of stromal elements in prostate adenocarcinoma of different Gleason scores with non-tumor area (control). METHODS: We obtained 132 specimens from samples of prostate peripheral and transition zone. We analyzed the following elements of the extracellular matrix: collagen fibers, elastic system, smooth muscle fibers and blood vessels. The tumor area and non-tumor area (control) of the TMA (tissue microarray) were photographed and analyzed using the ImageJ software. RESULTS: The comparison between the tumor area and the non-tumor area showed significant differences between stromal prostate elements. There was an increase of collagen fibers in the tumor area, mainly in Gleason 7. Elastic system fibers showed similar result, also from the Gleason 7. Blood vessels showed a significant increase occurred in all analyzed groups. The muscle fibers exhibited a different behavior, with a decrease in relation to the tumor area. CONCLUSIONS: There is a significant difference between the extracellular matrix in prostate cancer compared to the non-tumor area (control) especially in Gleason 7. Important modifications of the prostatic stromal elements strongly correlate with different Gleason scores and can contribute to predict the pathological staging of prostate cancer.


Assuntos
Adenocarcinoma/patologia , Neoplasias da Próstata/patologia , Células Estromais/patologia , Idoso , Idoso de 80 Anos ou mais , Vasos Sanguíneos/patologia , Colágeno/análise , Tecido Elástico/anatomia & histologia , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Liso/patologia , Gradação de Tumores , Valores de Referência , Estudos Retrospectivos , Análise Serial de Tecidos
11.
Elife ; 82019 11 26.
Artigo em Inglês | MEDLINE | ID: mdl-31763980

RESUMO

The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p < 5 × 10-8), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 individuals confirmed 10 loci including six unreported ones (padjusted < 2.1 × 10-3). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies.


Assuntos
Face/anatomia & histologia , Loci Gênicos/genética , Desenvolvimento Maxilofacial/genética , Fenótipo , Adolescente , Adulto , Pontos de Referência Anatômicos , Padronização Corporal/genética , Criança , Pré-Escolar , Feminino , Regulação da Expressão Gênica no Desenvolvimento/genética , Ontologia Genética , Variação Genética , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Imageamento Tridimensional , Masculino , Pessoa de Meia-Idade , Herança Multifatorial , Polimorfismo de Nucleotídeo Único , Adulto Jovem
12.
Acta cir. bras ; 34(10): e201901005, Oct. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1054671

RESUMO

Abstract Purpose: To quantify and compare the expression of stromal elements in prostate adenocarcinoma of different Gleason scores with non-tumor area (control). Methods: We obtained 132 specimens from samples of prostate peripheral and transition zone. We analyzed the following elements of the extracellular matrix: collagen fibers, elastic system, smooth muscle fibers and blood vessels. The tumor area and non-tumor area (control) of the TMA (tissue microarray) were photographed and analyzed using the ImageJ software. Results: The comparison between the tumor area and the non-tumor area showed significant differences between stromal prostate elements. There was an increase of collagen fibers in the tumor area, mainly in Gleason 7. Elastic system fibers showed similar result, also from the Gleason 7. Blood vessels showed a significant increase occurred in all analyzed groups. The muscle fibers exhibited a different behavior, with a decrease in relation to the tumor area. Conclusions: There is a significant difference between the extracellular matrix in prostate cancer compared to the non-tumor area (control) especially in Gleason 7. Important modifications of the prostatic stromal elements strongly correlate with different Gleason scores and can contribute to predict the pathological staging of prostate cancer.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Próstata/patologia , Adenocarcinoma/patologia , Células Estromais/patologia , Valores de Referência , Vasos Sanguíneos/patologia , Estudos Retrospectivos , Colágeno/análise , Análise Serial de Tecidos , Tecido Elástico/anatomia & histologia , Gradação de Tumores , Músculo Liso/patologia
13.
Am J Hum Biol ; 31(5): e23278, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31237064

RESUMO

OBJECTIVES: This article aims to assess the contribution of genomic ancestry and socioeconomic status to obesity in a sample of admixed Latin Americans. METHODS: The study comprised 6776 adult volunteers from Brazil, Chile, Colombia, Mexico, and Peru. Each volunteer completed a questionnaire about socioeconomic variables. Anthropometric variables such as weight, height, waist, and hip circumference were measured to calculate body indices: body mass index, waist-to-hip ratio and waist-to-height ratio (WHtR). Genetic data were extracted from blood samples, and ancestry was estimated using chip genotypes. Multiple linear regression was used to evaluate the relationship between the indices and ancestry, educational level, and economic well-being. The body indices were dichotomized to obesity indices by using appropriate thresholds. Odds ratios were calculated for each obesity index. RESULTS: The sample showed high percentages of obesity by all measurements. However, indices did not overlap consistently when classifying obesity. WHtR resulted in the highest prevalence of obesity. Overall, women with low education level and men with high economic wellness were more likely to be obese. American ancestry was statistically associated with obesity indices, although to a lesser extent than socioeconomic variables. CONCLUSIONS: The proportion of obesity was heavily dependent on the index and the population. Genomic ancestry has a significant influence on the anthropometric measurements, especially on central adiposity. As a whole, we detected a large interpopulation variation that suggests that better approaches to overweight and obesity phenotypes are needed in order to obtain more precise reference values.


Assuntos
Obesidade/epidemiologia , Obesidade/genética , Fatores Socioeconômicos , Adulto , Brasil/epidemiologia , Chile/epidemiologia , Colômbia/epidemiologia , Feminino , Humanos , América Latina/epidemiologia , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Obesidade/etnologia , Peru/epidemiologia , Prevalência , Classe Social , Adulto Jovem
14.
BMJ Open ; 9(4): e025530, 2019 04 20.
Artigo em Inglês | MEDLINE | ID: mdl-31005922

RESUMO

INTRODUCTION: Pain constitutes a major component of the global burden of diseases. Recent studies suggest a strong genetic contribution to pain susceptibility and severity. Whereas most of the available evidence relies on candidate gene association or linkage studies, research on the genetic basis of pain sensitivity using genome-wide association studies (GWAS) is still in its infancy. This protocol describes a proposed GWAS on genetic contributions to baseline pain sensitivity and nociceptive sensitisation in a sample of unrelated healthy individuals of mixed Latin American ancestry. METHODS AND ANALYSIS: A GWAS on genetic contributions to pain sensitivity in the naïve state and following nociceptive sensitisation will be conducted in unrelated healthy individuals of mixed ancestry. Mechanical and thermal pain sensitivity will be evaluated with a battery of quantitative sensory tests evaluating pain thresholds. In addition, variation in mechanical and thermal sensitisation following topical application of mustard oil to the skin will be evaluated. ETHICS AND DISSEMINATION: This study received ethical approval from the University College London research ethics committee (3352/001) and from the bioethics committee of the Odontology Faculty at the University of Antioquia (CONCEPTO 01-2013). Findings will be disseminated to commissioners, clinicians and service users via papers and presentations at international conferences.


Assuntos
Estudo de Associação Genômica Ampla/métodos , Limiar da Dor , Dor/genética , Colômbia , Voluntários Saudáveis , Humanos , Nociceptores/fisiologia
15.
World J Biol Psychiatry ; 20(5): 340-351, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30907211

RESUMO

Recently, there has been a major shift in the field of psychiatry towards the exploration of complex relationships between blood-based biomarkers and the pathophysiology of psychiatric and neuropsychiatric disorders. However, issues with study reproducibility, validity and reliability have hindered progress towards the identification of clinically relevant biomarkers for psychiatry. The achievement of laboratory validity is a crucial first step for the posterior development of clinical validity. There is evidence that the variability observed in blood-based research studies may be minimised with the implementation of standardised pre-analytical methods and uniform clinical protocols (i.e., pre-venipuncture). It has been documented that errors made in the pre-analytical phase account for 46-68.2% of laboratory testing errors. Thus, standardising clinical assessment, ethical procedures and pre-analytical phase of clinical research is essential for the reproducibility, validity and reliability of blood marker assessment, and reducing the risk of invalid test results. Various other areas of research have already moved towards guidelines for the standardised collection of blood-based biomarkers. Here we aim to provide a set of guidelines that we believe would improve biomarker research: (1) pre-venipuncture information and documentation, (2) ethics of participant consent and (3) pre-analytical methods. Ultimately, we hope this will assist study planning and will improve data comparison across studies allowing for the discovery of biomarkers in psychiatry with both laboratorial and clinical validity.


Assuntos
Biomarcadores/sangue , Coleta de Amostras Sanguíneas/normas , Transtornos Mentais/diagnóstico , Doenças Neurodegenerativas/diagnóstico , Comitês Consultivos , Psiquiatria Biológica/métodos , Consenso , Humanos , Transtornos Mentais/sangue , Doenças Neurodegenerativas/sangue , Reprodutibilidade dos Testes , Sociedades Médicas/normas
16.
Nat Commun ; 10(1): 358, 2019 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-30664655

RESUMO

We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.


Assuntos
Epistasia Genética , Cor de Olho/genética , Genoma Humano , Locos de Características Quantitativas , Pigmentação da Pele/genética , Alelos , Grupo com Ancestrais do Continente Asiático , Evolução Biológica , Grupos Étnicos , Grupo com Ancestrais do Continente Europeu , Feminino , Expressão Gênica , Frequência do Gene , Genética Populacional , Estudo de Associação Genômica Ampla , Fatores de Troca do Nucleotídeo Guanina/genética , Humanos , América Latina , Masculino , Proteínas de Membrana/genética , Proteínas de Membrana Transportadoras/genética , Polimorfismo de Nucleotídeo Único , Receptor de Glutamato Metabotrópico 5/genética , Ubiquitina-Proteína Ligases
17.
Int. braz. j. urol ; 45(1): 161-168, Jan.-Feb. 2019. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-989967

RESUMO

ABSTRACT High-fat diet-induced obesity is associated with metabolic disorders. The Brazil nut has bioactive substances and has been used to control the damage caused by obesity in several organs. The work intended to show the damage caused by high-fat diet in the bladder wall and if the Brazil nut oil added to the diet could ameliorate or reverse this effect. Sixty-day-old rats were divided into two groups: C (control, n = 30) and HF (high-fat, n = 30) diets. At 90 days, 10 animals of each group were sacrificed. The others were divided into 4 groups: C and HF (animals that maintained their previous diet, n = 10 for each group) and C / Bno and HF / Bno (animals whose control or high-fat diet was supplemented by Brazil nut oil, n = 10 for each group). Sacrifice occurred at 120 days, and the bladders were removed and analyzed. Epithelial height was increased in the HF compared to the C group. In contrast, the C / Bno had a lower epithelial height compared to the others. The percentage of collagen between the detrusor muscle fibers was significantly greater in C / Bno, HF and HF / Bno than in control group. The HF had a larger muscle fiber diameter than the C group, while the C / Bno presented lower values than the HF and HF / Bno groups. HF diets induced bladder wall damage. These changes in the rat's bladder wall were partially reversed by the Bno.

18.
Int J Cardiol ; 279: 168-173, 2019 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-30305239

RESUMO

BACKGROUND: Serum uric acid (SUA) is a heritable trait associated with cardiovascular risk factors and coronary artery disease (CAD). Genome wide association studies (GWAS) have identified several genes associated with SUA, mainly in European populations. However, to date there are few GWAS in Latino populations, and the role of SUA-associated single nucleotide polymorphisms (SNPs) in cardiovascular disease has not been studied in the Mexican population. METHODS: We performed genome-wide SUA association study in 2153 Mexican children and adults, evaluated whether genetic effects were modified by sex and obesity, and used a Mendelian randomization approach in an independent cohort to study the role of SUA modifying genetic variants in premature CAD. RESULTS: Only two loci were associated with SUA levels: SLC2A9 (ß = -0.47 mg/dl, P = 1.57 × 10-42 for lead SNP rs7678287) and ABCG2 (ß = 0.23 mg/dl, P = 2.42 × 10-10 for lead SNP rs2231142). No significant interaction between SLC2A9 rs7678287 and ABCG2 rs2231142 genotypes and obesity was observed. However, a significant ABCG2 rs2231142 genotype*sex interaction (P = 0.001) was observed in adults but not in children. Although SUA levels were associated with premature CAD, metabolic syndrome and decreased glomerular filtration rate (eGFR), only ABCG2 rs2231142 was associated with decreased eGFR in the premature CAD group. CONCLUSIONS: SUA elevation was independently associated with premature CAD, metabolic syndrome and decreased eGFR in the Mexican population. However, a Mendelian randomization approach using the lead SUA-associated SNPs (SLC2A9 and ABCG2) did not support a causal role of elevated SUA levels for premature CAD.


Assuntos
Doença da Artéria Coronariana/sangue , Doença da Artéria Coronariana/genética , Estudo de Associação Genômica Ampla/métodos , Polimorfismo de Nucleotídeo Único/genética , Ácido Úrico/sangue , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Criança , Doença da Artéria Coronariana/epidemiologia , Feminino , Humanos , Masculino , Análise da Randomização Mendeliana/métodos , México/epidemiologia , Pessoa de Meia-Idade , Adulto Jovem
19.
Int Braz J Urol ; 45(1): 161-168, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30556993

RESUMO

High-fat diet-induced obesity is associated with metabolic disorders. The Brazil nut has bioactive substances and has been used to control the damage caused by obesity in several organs. The work intended to show the damage caused by high-fat diet in the bladder wall and if the Brazil nut oil added to the diet could ameliorate or reverse this effect. Sixty-day-old rats were divided into two groups: C (control, n = 30) and HF (high-fat, n = 30) diets. At 90 days, 10 animals of each group were sacrificed. The others were divided into 4 groups: C and HF (animals that maintained their previous diet, n = 10 for each group) and C / Bno and HF / Bno (animals whose control or high-fat diet was supplemented by Brazil nut oil, n = 10 for each group). Sacrifice occurred at 120 days, and the bladders were removed and analyzed. Epithelial height was increased in the HF compared to the C group. In contrast, the C / Bno had a lower epithelial height compared to the others. The percentage of collagen between the detrusor muscle fibers was significantly greater in C / Bno, HF and HF / Bno than in control group. The HF had a larger muscle fiber diameter than the C group, while the C / Bno presented lower values than the HF and HF / Bno groups. HF diets induced bladder wall damage. These changes in the rat's bladder wall were partially reversed by the Bno.


Assuntos
Bertholletia/química , Dieta Hiperlipídica , Suplementos Nutricionais , Óleos Vegetais/farmacologia , Bexiga Urinária/efeitos dos fármacos , Animais , Masculino , Ratos , Fatores de Tempo
20.
Am J Phys Anthropol ; 168(3): 438-447, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30582632

RESUMO

OBJECTIVES: To investigate the variation in dental nonmetric traits and to evaluate the utility of this variation for inferring genetic ancestry proportions in a sample of admixed Latin Americans. MATERIALS AND METHODS: We characterized a sample from Colombia (N = 477) for 34 dental traits and obtained estimates of individual Native American, European, and African ancestry using genome-wide SNP data. We tested for correlation between dental traits, genetic ancestry, age, and sex. We carried out a biodistance analysis between the Colombian sample and reference continental population samples using the mean measure of divergence statistic calculated from dental trait frequencies. We evaluated the inference of genetic ancestry from dental traits using a regression approach (with 10-fold cross-validation) as well as by testing the correlation between estimates of ancestry obtained from genetic and dental data. RESULTS: Latin Americans show intermediate dental trait frequencies when compared to Native Americans, Europeans, and Africans. Significant correlations were observed for several dental traits, genetic ancestry, age, and sex. The biodistance analysis displayed a closer relationship of Colombians to Europeans than to Native Americans and Africans. Mean ancestry estimates obtained from the dental data are similar to the genetic estimates (Native American: 32% vs. 28%, European: 59% vs. 63%, and African: 9% vs. 9%, respectively). However, dental features provided low predictive power for genetic ancestry of individuals in both approaches tested (R2 < 5% for all genetic ancestries across methods). DISCUSSION: The frequency of dental traits in Latin Americans reflects their admixed Native American, European and African ancestry and can provide reasonable average estimates of genetic ancestry. However, the accuracy of individual genetic ancestry estimates is relatively low, probably influenced by the continental differentiation of dental traits, their genetic architecture, and the distribution of genetic ancestry in the individuals examined.


Assuntos
Grupos de Populações Continentais , Hispano-Americanos/genética , Dente/anatomia & histologia , Adolescente , Adulto , Antropologia Física , Grupos de Populações Continentais/genética , Grupos de Populações Continentais/estatística & dados numéricos , Feminino , Genética Populacional , Hispano-Americanos/estatística & dados numéricos , Humanos , Masculino , Fotografia Dentária , Adulto Jovem
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