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The identification of genes associated with resistance has the potential to facilitate the development of novel diagnostic tests and treatment methods. The objective of this study was to examine the antibiotic resistance and Fosfomycin resistance genes in uropathogenic Escherichia coli (UPEC) in patients in Baghdad, Iraq. After analyzing 250 urine samples using various identification methods, including the examination of morphological characteristics, biochemical tests, and genetic detection, it was determined that E. coli was the most common bacteria present, accounting for 63.6% of the samples. Antibiotic susceptibility testing showed a significant prevalence of resistance to various antibiotics, with 99.3% of E. coli isolates exhibiting multiple drug resistance (MDR). Fosfomycin showed antibacterial properties against UPEC. The minimum inhibitory concentration (MIC) ranged from 512 to 1024 µg/mL, while the minimum bactericidal concentration (MBC) was 2048 µg/mL. In the time-kill assay, fosfomycin was effective against fosfomycin-resistant isolates within 8-12 h. The genetic determinants associated with fosfomycin resistance were examined through the utilization of polymerase chain reaction (PCR). The findings indicated that the genes murA, glpT, and cyaA were detected in all the isolates when genomic DNA was used as a template. However, all the tests yielded negative results when plasmid was used as a template. The genes fosA3 and fosA4 were detected in 8.6% and 5% of the isolates when genomic DNA was used as a template. When plasmid was used as a template, the genes fosA3 and fosA4 were found in 5.7% and 2.9% of the isolates, respectively. In conclusion, there is an increasing problem with antibiotic resistance in UPEC, with elevated rates of resistance to several antibiotics. The study also offers novel insights into the genetic foundation of fosfomycin resistance in UPEC.
Assuntos
Antibacterianos , Infecções por Escherichia coli , Fosfomicina , Testes de Sensibilidade Microbiana , Infecções Urinárias , Escherichia coli Uropatogênica , Fosfomicina/farmacologia , Escherichia coli Uropatogênica/genética , Escherichia coli Uropatogênica/efeitos dos fármacos , Escherichia coli Uropatogênica/isolamento & purificação , Humanos , Antibacterianos/farmacologia , Infecções por Escherichia coli/microbiologia , Infecções Urinárias/microbiologia , Farmacorresistência Bacteriana/genética , Iraque , Feminino , Masculino , Adulto , Proteínas de Escherichia coli/genética , Proteínas de Escherichia coli/metabolismo , Adulto Jovem , Pessoa de Meia-Idade , Adolescente , Farmacorresistência Bacteriana Múltipla/genéticaRESUMO
Cardiovascular diseases are the leading cause of death worldwide. They are non-transmissible diseases that affect the cardiovascular system and have different etiologies such as smoking, lipid disorders, diabetes, stress, sedentary lifestyle and genetic factors. To date, lncRNAs have been associated with increased susceptibility to the development of cardiovascular diseases such as hypertension, acute myocardial infarction, stroke, angina and heart failure. In this way, lncRNAs are becoming a very promising point for the prevention and diagnosis of cardiovascular diseases. Therefore, this review highlights the most important and recent discoveries about the mechanisms of action of the lncRNAs ANRIL, H19 and TUG1 and their clinical relevance in these pathologies. This may contribute to early detection of cardiovascular diseases in order to prevent the pathological phenotype from becoming established.
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Cardiovascular diseases are the leading cause of death worldwide. They are non-transmissible diseases that affect the cardiovascular system and have different etiologies such as smoking, lipid disorders, diabetes, stress, sedentary lifestyle and genetic factors. To date, lncRNAs have been associated with increased susceptibility to the development of cardiovascular diseases such as hypertension, acute myocardial infarction, stroke, angina and heart failure. In this way, lncRNAs are becoming a very promising point for the prevention and diagnosis of cardiovascular diseases. Therefore, this review highlights the most important and recent discoveries about the mechanisms of action of the lncRNAs ANRIL, H19 and TUG1 and their clinical relevance in these pathologies. This may contribute to early detection of cardiovascular diseases in order to prevent the pathological phenotype from becoming established.
Assuntos
Doenças Cardiovasculares , RNA Longo não Codificante , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/genética , Doenças Cardiovasculares/fisiopatologia , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo , Humanos , Predisposição Genética para DoençaRESUMO
Neural tube defects (NTDs) are serious congenital deformities of the nervous system that occur owing to the failure of normal neural tube closures. Genetic and non-genetic factors contribute to the etiology of neural tube defects in humans, indicating the role of gene-gene and gene-environment interaction in the occurrence and recurrence risk of neural tube defects. Several lines of genetic studies on humans and animals demonstrated the role of aberrant genes in the developmental risk of neural tube defects and also provided an understanding of the cellular and morphological programs that occur during embryonic development. Other studies observed the effects of folate and supplementation of folic acid on neural tube defects. Hence, here we review what is known to date regarding altered genes associated with specific signaling pathways resulting in NTDs, as well as highlight the role of various genetic, and non-genetic factors and their interactions that contribute to NTDs. Additionally, we also shine a light on the role of folate and cell adhesion molecules (CAMs) in neural tube defects.
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Introduction: The aim of the present study was to investigate the association between the single nucleotide polymorphism (SNP) rs1927914 A/G in TLR4 gene and the immunological profile of household contacts (HHC) of leprosy patients. Leprosy classification is usually complex and requires the assessment of several clinical and laboratorial features. Methods: Herein, we have applied distinct models of descriptive analysis to explore qualitative/quantitative changes in chemokine and cytokine production in HHC further categorized according to operational classification [HHC(PB) and HHC(MB)] and according to TLR4SNP. Results and discussion: Our results showed that M. leprae stimuli induced an outstanding production of chemokines (CXCL8;CCL2; CXCL9; CXCL10) by HHC(PB), while increase levels of pro-inflammatory cytokines (IL-6; TNF; IFN-γ; IL-17) were observed for HHC(MB). Moreover, the analysis of chemokine and cytokine signatures demonstrated that A allele was associated with a prominent soluble mediator secretion (CXCL8; CXCL9; IL-6; TNF; IFN-γ). Data analysis according to TLR4 SNP genotypes further demonstrated that AA and AG were associated with a more prominent secretion of soluble mediators as compared to GG, supporting the clustering of AA and AG genotypes into dominant genetic model. CXCL8, IL-6, TNF and IL-17 displayed distinct profiles in HHC(PB) vs HHC(MB) or AA+AG vs GG genotype. In general, chemokine/cytokine networks analysis showed an overall profile of AA+GA-selective (CXCL9-CXCL10) and GG-selective (CXCL10-IL-6) axis regardless of the operational classification. However, mirrored inverted CCL2-IL-10 axis and a (IFN-γ-IL-2)-selective axis were identified in HHC(MB). CXCL8 presented outstanding performance to classify AA+AG from GG genotypes and HHC(PB) from HHC(MB). TNF and IL-17 presented elevated accuracy to classify AA+AG from GG genotypes and HHC(PB) (low levels) from HHC(MB) (high levels), respectively. Our results highlighted that both factors: i) differential exposure to M. leprae and ii) TLR4 rs1927914 genetic background impact the immune response of HHC. Our main results reinforce the relevance of integrated studies of immunological and genetic biomarkers that may have implications to improve the classification and monitoring of HHC in future studies.
Assuntos
Hanseníase , Mycobacterium leprae , Humanos , Interleucina-17 , Receptor 4 Toll-Like/genética , Interleucina-6 , Citocinas , Hanseníase/genética , Imunidade , QuimiocinasRESUMO
Several factors may increase the risk of development of ovarian cancer. In this study, we investigated the relationship between social, genetic, and histopathologic factors in women with ovarian serous cystadenocarcinoma and titin (TTN) mutations, whether the TTN gene mutation may be a predictor, and its impact on mortality and survival in these patients. A total of 585 samples from patients with ovarian serous cystadenocarcinoma were collected from The Cancer Genome Atlas and PanCancer Atlas through the cBioPortal for analysis of social, genetic, and histopathological factors. Logistic regression was used to investigate whether TTN mutation could be a predictor, and the Kaplan-Meier method was applied to analyze survival time. TTN mutation frequency did not differ between age at diagnosis, tumor stage, and race, and was related to increased Buffa hypoxia score (p = 0.004), mutation count (p < 0.0001), Winter hypoxia Score (p = 0.030), nonsynonymous tumor mutation burden (TMB) (p < 0.0001), and reduced microsatellite instability sensor score (p = 0.010). The number of mutations (p < 0.0001) and winter hypoxia score (p = 0.008) were positively associated with TTN mutations, and nonsynonymous TMB (p < 0.0001) proved to be a predictor. Mutated TTN affects the score of genetic variables involved in cancer cell metabolism in ovarian cystadenocarcinoma.
Assuntos
Cistadenocarcinoma Seroso , Neoplasias Ovarianas , Humanos , Feminino , Conectina/genética , Cistadenocarcinoma Seroso/genética , Cistadenocarcinoma Seroso/patologia , Mutação , Carcinoma Epitelial do Ovário , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologiaRESUMO
Allergy is the result of genetic and environmental interactions, including time, route, and dose of food exposure in susceptible patients. Risk factors can be: 1) genetic and 2) environmental, and these, in turn, are divided into prenatal, perinatal and postnatal. Food allergy appears frequently and depends on multiple risk factors (genetic and environmental), which in turn are divided into: prenatal, natal and postnatal factors; They participate in the expression of the disease and clinical intervention is not possible in all cases.
La alergia es el resultado de interacciones genéticas y ambientales, incluso de tiempo, ruta y dosis de exposición a alimentos en pacientes susceptibles. Los factores de riesgo pueden ser: 1) genéticos y 2) ambientales, y estos, a su vez, se dividen en prenatales, perinatales y posnatales. La alergia alimentaria aparece frecuentemente y depende de múltiples factores de riesgo (genéticos y ambientales), que a su vez se dividen en: factores prenatales, natales y posnatales; participan en la expresión de la enfermedad y no en todos los casos es posible la intervención clínica.
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Hipersensibilidade Alimentar , Feminino , Gravidez , Humanos , Hipersensibilidade Alimentar/etiologia , Fatores de Risco , VitaminasRESUMO
BACKGROUND: A family history of arterial hypertension is an important risk factor for arterial hypertension. This study aimed to verify the mediating role of high central adiposity in the relationship between family history of arterial hypertension and blood pressure in schoolchildren. METHODS: Cross-sectional study with 118 schoolchildren of both sexes aged between 11 and 17 years. Weight, height, waist circumference and body mass index z score were verified. Somatic maturation was predicted by age for peak growth velocity. The family history of arterial hypertension was verified and defined as hypertensive schoolchildren with systolic blood pressure or diastolic blood pressure. Mediation analysis was used with linear regression models applied by PROCESS macro for SPSS (version 22.0), with significance p < 0.05. RESULTS: It was observed that 34.7% of the students have family history of arterial hypertension, 36% of the girls and 44.2% of the boys have arterial hypertension. In girls, the relationship between waist circumference and systolic blood pressure was direct (ß = 0.535 p = 0.005), and those with a family history of arterial hypertension and who had a waist circumference greater than those without a family history of arterial hypertension was significant (ß = -5,437 p = 0.009). Likewise, the relationship between family history of arterial hypertension and systolic blood pressure was attenuated when waist circumference was included in the model (ß = -5.544; p = 0.103), indicating waist circumference as a mediator with an influence percentage of 19%. For boys, waist circumference is not a mediator of the relationship between family history of arterial hypertension and blood pressure. CONCLUSIONS: Elevated central adiposity was a mediator of the relationship between family history of arterial hypertension and high blood pressure in girls, indicating the importance of family health strategies in the prevention and management of arterial hypertension in children and adolescents.
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Adiposidade , Hipertensão , Adiposidade/fisiologia , Adolescente , Pressão Sanguínea/fisiologia , Índice de Massa Corporal , Criança , Estudos Transversais , Feminino , Humanos , Hipertensão/epidemiologia , Hipertensão/etiologia , Masculino , Obesidade , Obesidade Abdominal/complicações , Obesidade Abdominal/epidemiologia , Fatores de Risco , Circunferência da Cintura/fisiologiaRESUMO
BACKGROUND: Legg-Calvé-Perthes Disease (LCPD) is a necrosis of the femoral head which affects the range of motion of the hips. Its incidence is variable, ranging from 0.4/100,000 to 29.0/ 100,000 children. Although LCPD was first described in the beginning of the past century, limited is known about its etiology. Our objective is to describe the main areas of interest in Legg-Calve-Perthes disease. METHODS: A review of the literature regarding LCPD etiology was performed, considering the following inclusion criteria: Studies reporting clinical or preclinical results. The research group carried out a filtered search on the PubMed and Science Direct databases. To maximize the suitability of the search results, we combined the terms ''Perthes disease" OR "LCPD" OR "children avascular femoral head necrosis" with "diagnostic" OR "treatment" OR "etiology" as either key words or MeSH terms. RESULTS: In this article been described some areas of interest in LCPD, we include topics such as: history, incidence, pathogenesis, diagnosis, treatment and possible etiology, since LCPD has an unknown etiology. CONCLUSIONS: This review suggests that LCPD has a multifactorial etiology where environmental, metabolic and genetic agents could be involved.
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Doença de Legg-Calve-Perthes , Criança , Bases de Dados Factuais , Cabeça do Fêmur/patologia , Humanos , Incidência , Doença de Legg-Calve-Perthes/epidemiologia , Doença de Legg-Calve-Perthes/genética , Doença de Legg-Calve-Perthes/patologia , Amplitude de Movimento ArticularRESUMO
Over the last few years, fluoxetine has been one of the most prescribed medications for the treatment of diverse psychiatric conditions in Mexico. Fluoxetine therapeutic effect is consequence of the joint action of the parent drug and its active metabolite, norfluoxetine. However, the clinical efficacy of fluoxetine, can be affected due to diverse factors, such as drug-drug interactions and the large interindividual variability in the pharmacokinetics of this drug. The aim of this study was to determine the factors associated with variability in plasma concentrations of fluoxetine and norfluoxetine and its association with the therapeutic response. Fluoxetine and norfluoxetine plasma concentrations were quantified by liquid chromatography in 81 Mexican patients with mental disorders; 25% of the patients had no medication adherence and 40% were below the reference range of fluoxetine plus norfluoxetine plasma concentrations. The results showed that concentrations can be affected by fluoxetine metabolism caused by CYP2D6 phenotype and the concomitant administration of olanzapine. Furthermore, CYP3A5 and CYP2C19 phenotype were associated with lower anxiety and depression control during treatment with fluoxetine. This study can be a starting point to elucidate the causes of fluoxetine variable response in Mexican patients with mental disorders, as well as to detect and support medication adherence.
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Sistema Enzimático do Citocromo P-450/genética , Fluoxetina/farmacocinética , Transtornos Mentais/tratamento farmacológico , Inibidores Seletivos de Recaptação de Serotonina/farmacocinética , Adulto , Antipsicóticos/efeitos adversos , Ansiedade/tratamento farmacológico , Ansiedade/psicologia , Citocromo P-450 CYP2C19/genética , Citocromo P-450 CYP2C19/metabolismo , Citocromo P-450 CYP2D6/genética , Citocromo P-450 CYP2D6/metabolismo , Citocromo P-450 CYP3A/genética , Citocromo P-450 CYP3A/metabolismo , Sistema Enzimático do Citocromo P-450/metabolismo , Depressão/tratamento farmacológico , Depressão/psicologia , Interações Medicamentosas , Feminino , Fluoxetina/análogos & derivados , Fluoxetina/sangue , Fluoxetina/metabolismo , Genótipo , Humanos , Masculino , Adesão à Medicação , Transtornos Mentais/psicologia , México , Pessoa de Meia-Idade , Olanzapina/efeitos adversos , Variantes Farmacogenômicos , Farmacocinética , Inibidores Seletivos de Recaptação de Serotonina/metabolismo , Resultado do TratamentoRESUMO
INTRODUCTION: Periodontitis is a multifactorial host-mediated oral disease caused by microbes. Previous studies suggested that interleukin-6 (IL-6) gene promoter polymorphism (-174G > C) are associated with the risk of periodontitis, although the results were inconclusive. This study investigated the association between IL-6 -174G > C polymorphism and susceptibility to periodontitis. METHOD: A comprehensive search was conducted in PubMed, EMBASE, Web of Science, and Google Scholar databases to retrieve relevant studies. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the strength of the association between 174G > C polymorphism and the risk of periodontitis. Cochrane Q and I2 statistics were used to measure heterogeneity between studies. Publication bias was estimated using Begg's funnel plots and Egger's test. RESULTS: Our results showed significant differences in the allelic (C vs. G: OR = 0.82, CI = 0.65-1.03), recessive (CC vs. GC + GG: OR = 0.69, CI = 0.42-1.13), and dominant (GC + CC vs. GG: OR = 0.85, CI = 0.63-1.13) genetic models of the IL6 -174G > C polymorphism and risk of periodontitis. Further, subgroup analysis showed decreased susceptibility to periodontitis associated with IL6 -174 G > C in a Brazilian population (C vs. G: OR = 0.60, CI = 0.41-0.88; GC + CC vs. GG: OR = 0.57, CI = 0.42-0.78) but not in Asian or Caucasian populations. CONCLUSION: The findings of this study revealed that the IL6 -174 "C" allele is protective against periodontitis in the Brazilian population.
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Interleucina-6 , Periodontite/genética , Alelos , Predisposição Genética para Doença , Humanos , Interleucina-6/genética , Periodontite/epidemiologia , Polimorfismo GenéticoRESUMO
INTRODUCCIÓN: Los defectos congénitos son un grupo de alteraciones con gran heterogeneidad clínica y etiológica. Su prevalencia en los países en vías de desarrollo alcanza aproximadamente un 7%. En Colombia, un 17% de los niños menores de 1 año mueren a causa de anomalías congénitas. OBJETIVO: Determinar los factores de riesgo asociados a anomalías congénitas en neonatos del Departamento del Cauca atendidos en un hospital de alta complejidad. MÉTODO: Estudio de casos y controles en el Hospital Universitario San José, de Popayán, Colombia. Se incluyeron 174 recién nacidos, con una distribución 1:1 para 87 casos y 87 controles, entre julio de 2018 y julio de 2019. Las variables de interés fueron registradas en un instrumento semiestructurado diseñado por los investigadores. Los datos obtenidos fueron analizados usando métodos de estadística descriptiva, prueba exacta de Fisher y modelos de regresión logística binomial (odds ratio [OR] con intervalo de confianza del 95% [IC95%]). RESULTADOS: Las anomalías congénitas más frecuentes fueron del sistema cardiovascular (40,23%), renales (24,14%) y del sistema nervioso central (13,79%). Las variables que se asociaron a anomalías congénitas fueron la educación de la madre (OR: 2,40; IC95%: 1,23-4,68), la educación del padre (OR: 2,93; IC95%: 1,44-5,93), el antecedente de cesárea (OR: 3,3; IC95%: 1,76-6,42), la hemorragia en el primer trimestre (OR: 6,15; IC95%: 1,32-28,63) y el antecedente de malformación en un embarazo previo (OR: 4,05; IC95%: 1,08-15,07). CONCLUSIONES: De acuerdo con los resultados del presente estudio, para tratar de reducir la incidencia de las anomalías congénitas se deben intervenir los factores de riesgo modificables, como la educación de los padres, tratar oportunamente las patologías maternas asociadas al sangrado del primer trimestre y realizar consejería genética a los padres con antecedente de anomalías congénitas en embarazos previos. Lo anterior podría lograrse al mejorar la calidad y la adherencia al control prenatal.
INTRODUCTION: Congenital defects are a group of alterations with great clinical and etiological heterogeneity. The prevalence in developing countries is approximately 7%. In Colombia, 17% of children under 1 year of age die from congenital anomalies. OBJECTIVE: To determine the risk factors associated with congenital anomalies in neonates from the Department of Cauca treated in a highly complex hospital. METHOD: Case-control study at the San José de Popayan University Hospital, Colombia. 174 newborns entered the study, with a 1: 1 distribution for 87 cases and 87 controls, between July 2018 and July 2019. The variables of interest were recorded in a semi-structured instrument designed by the researchers. The data obtained were analyzed using descriptive statistical methods, Fishers exact test and binomial logistic regression models (OR with 95% CI). RESULTS: The most frequent congenital anomalies were those of the cardiovascular system (40.23%), renal (24.14%) and central nervous system (13.79%). The variables associated with congenital anomalies were mothers education (OR 2.40; 95% CI: 1.23-4.68), fathers education (OR 2.93 95% CI: 1.44-5.93), history of cesarean section (OR 3.3 CI 95%: 1.76-6.42), first trimester bleeding (OR 6.15 95% CI: 1.32-28.63); history of malformation (OR: 4,05; 95% CI: 1.08-15.07). CONCLUSIONS: Based on the results of the present study and to try to reduce the incidence of congenital anomalies, modifiable risk factors should be intervened, such as parental education, timely treatment of maternal pathologies associated with 1-trimester bleeding and perform genetic counseling to parents with a history of congenital anomalies in previous pregnancies. This could be achieved by improving quality and adherence to prenatal care.
Assuntos
Humanos , Masculino , Feminino , Gravidez , Recém-Nascido , Adulto , Anormalidades Congênitas/epidemiologia , Estudos de Casos e Controles , Análise de Regressão , Fatores de Risco , Colômbia/epidemiologia , Meio Ambiente , Hospitais UniversitáriosRESUMO
INTRODUCCIÓN: Los defectos congénitos son un grupo de alteraciones con gran heterogeneidad clínica y etiológica. Su prevalencia en los países en vías de desarrollo alcanza aproximadamente un 7%. En Colombia, un 17% de los niños menores de 1 año mueren a causa de anomalías congénitas. OBJETIVO: Determinar los factores de riesgo asociados a anomalías congénitas en neonatos del Departamento del Cauca atendidos en un hospital de alta complejidad. MÉTODO: Estudio de casos y controles en el Hospital Universitario San José, de Popayán, Colombia. Se incluyeron 174 recién nacidos, con una distribución 1:1 para 87 casos y 87 controles, entre julio de 2018 y julio de 2019. Las variables de interés fueron registradas en un instrumento semiestructurado diseñado por los investigadores. Los datos obtenidos fueron analizados usando métodos de estadística descriptiva, prueba exacta de Fisher y modelos de regresión logística binomial (odds ratio [OR] con intervalo de confianza del 95% [IC95%]). RESULTADOS: Las anomalías congénitas más frecuentes fueron del sistema cardiovascular (40,23%), renales (24,14%) y del sistema nervioso central (13,79%). Las variables que se asociaron a anomalías congénitas fueron la educación de la madre (OR: 2,40; IC95%: 1,23-4,68), la educación del padre (OR: 2,93; IC95%: 1,44-5,93), el antecedente de cesárea (OR: 3,3; IC95%: 1,76-6,42), la hemorragia en el primer trimestre (OR: 6,15; IC95%: 1,32-28,63) y el antecedente de malformación en un embarazo previo (OR: 4,05; IC95%: 1,08-15,07). CONCLUSIONES: De acuerdo con los resultados del presente estudio, para tratar de reducir la incidencia de las anomalías congénitas se deben intervenir los factores de riesgo modificables, como la educación de los padres, tratar oportunamente las patologías maternas asociadas al sangrado del primer trimestre y realizar consejería genética a los padres con antecedente de anomalías congénitas en embarazos previos. Lo anterior podría lograrse al mejorar la calidad y la adherencia al control prenatal.
INTRODUCTION: Congenital defects are a group of alterations with great clinical and etiological heterogeneity. The prevalence in developing countries is approximately 7%. In Colombia, 17% of children under 1 year of age die from congenital anomalies. OBJECTIVE: To determine the risk factors associated with congenital anomalies in neonates from the Department of Cauca treated in a highly complex hospital. METHOD: Case-control study at the San José de Popayan University Hospital, Colombia. 174 newborns entered the study, with a 1: 1 distribution for 87 cases and 87 controls, between July 2018 and July 2019. The variables of interest were recorded in a semi-structured instrument designed by the researchers. The data obtained were analyzed using descriptive statistical methods, Fishers exact test and binomial logistic regression models (OR with 95% CI). RESULTS: The most frequent congenital anomalies were those of the cardiovascular system (40.23%), renal (24.14%) and central nervous system (13.79%). The variables associated with congenital anomalies were mothers education (OR 2.40; 95% CI: 1.23-4.68), fathers education (OR 2.93 95% CI: 1.44-5.93), history of cesarean section (OR 3.3 CI 95%: 1.76-6.42), first trimester bleeding (OR 6.15 95% CI: 1.32-28.63); history of malformation (OR: 4,05; 95% CI: 1.08-15.07). CONCLUSIONS: Based on the results of the present study and to try to reduce the incidence of congenital anomalies, modifiable risk factors should be intervened, such as parental education, timely treatment of maternal pathologies associated with 1-trimester bleeding and perform genetic counseling to parents with a history of congenital anomalies in previous pregnancies. This could be achieved by improving quality and adherence to prenatal care.
Assuntos
Humanos , Feminino , Recém-Nascido , Adulto , Adulto Jovem , Anormalidades Congênitas/epidemiologia , Recém-Nascido Prematuro , Modelos Logísticos , Análise Multivariada , Fatores de Risco , Colômbia , Fatores Sociodemográficos , Hospitais UniversitáriosRESUMO
BACKGROUND: Arterial hypertension in children is considered a common alteration nowadays, mainly because obesity is a growing worldwide problem closely related to increased blood pressure. Childhood hypertension can be classified as primary or secondary, depending on the etiology. Primary or essential hypertension still has its pathophysiology not fully elucidated, and there is no consensus in the literature on most underlying mechanisms. In this review, genetic and environmental factors, including sodium and potassium intake, socioeconomic status, ethnicity, family structure, obesity, sedentary lifestyle, prematurity and low birth weight, prenatal and postnatal exposures are highlighted. OBJECTIVE: The present study aimed to perform an update on primary hypertension in childhood, providing clinicians and researchers an overview of the current state of the literature regarding the influence of genetic and environmental factors. METHODS: This integrative review searched for articles on genetic and environmental factors related to primary hypertension in pediatric patients. The databases evaluated were PubMed and Scopus. RESULTS: The studies have provided insights regarding many genetic and environmental factors, in addition to their association with the pathophysiology of primary hypertension in childhood. Findings corroborated the idea that primary hypertension is a multifactorial disease. Further studies in the pediatric population are needed to elucidate the underlying mechanisms. CONCLUSION: The study of primary hypertension in pediatrics has utmost importance for the adoption of preventive measures and the development of more efficient treatments, therefore reducing childhood morbidity and the incidence of cardiovascular diseases and other health consequences later in life.
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Hipertensão Essencial/etiologia , Adolescente , Criança , Exposição Ambiental/efeitos adversos , Hipertensão Essencial/diagnóstico , Hipertensão Essencial/fisiopatologia , Família , Feminino , Interação Gene-Ambiente , Predisposição Genética para Doença , Humanos , Obesidade Infantil/complicações , Obesidade Infantil/fisiopatologia , Gravidez , Efeitos Tardios da Exposição Pré-Natal/diagnóstico , Efeitos Tardios da Exposição Pré-Natal/genética , Efeitos Tardios da Exposição Pré-Natal/fisiopatologia , Fatores de Risco , Comportamento Sedentário , Determinantes Sociais da Saúde , Fatores SocioeconômicosRESUMO
Congenital hepatic fibrosis (CHF) is an autosomal recessive malformation characterized by a variable degree of fibrosis and bile duct proliferation, mainly described in people and rarely reported in bovine European breeds. In addition to liver fibrosis, this syndrome has been associated with ascites and subcutaneous edema in calves. This paper described the pathological findings of the first report of CHF in a Nelore bovine fetus. A stillborn calf was removed by cesarean section because of dystocia. At necropsy, characteristic changes of CHF were observed, such as a large increase in abdominal volume associated with hepatic fibrosis and marked subcutaneous edema. Histological examination of liver revealed periportal and port-portal islands of fibrosis separating the parenchyma into nodules of variable sizes and containing numerous abnormally shaped bile ducts. The CHF should be considered in the differential diagnosis in young calves that present with ascites.(AU)
A fibrose hepática congênita (FHC) é uma malformação autossômica recessiva, caracterizada por um variável grau de fibrose e proliferação de ductos biliares, descrita principalmente em pessoas, e raramente relatada em bovinos de raças europeias. Além da fibrose hepática em bezerros, esta síndrome tem sido associada à ascite e edema subcutâneo. O presente trabalho apresenta os achados anatomopatológicos do primeiro relato de FHC em um feto bovino da raça nelore. O bezerro natimorto foi retirado por meio de cesariana devido à distocia. Na necropsia foram verificadas alterações características da FHC, como grande aumento de volume abdominal associado à fibrose hepática e marcado edema subcutâneo. O exame histológico do fígado revelou ilhas de fibrose periportal e porto-portal, separando o parênquima em nódulos de tamanhos variáveis e contendo numerosos ductos biliares irregulares de tamanhos anormais.(AU)
Assuntos
Animais , Bovinos , Cirrose Hepática/veterinária , Ascite/veterinária , Anormalidades Congênitas/veterinária , Morte Perinatal , Natimorto/veterináriaRESUMO
ABSTRACT: Congenital hepatic fibrosis (CHF) is an autosomal recessive malformation characterized by a variable degree of fibrosis and bile duct proliferation, mainly described in people and rarely reported in bovine European breeds. In addition to liver fibrosis, this syndrome has been associated with ascites and subcutaneous edema in calves. This paper described the pathological findings of the first report of CHF in a Nelore bovine fetus. A stillborn calf was removed by cesarean section because of dystocia. At necropsy, characteristic changes of CHF were observed, such as a large increase in abdominal volume associated with hepatic fibrosis and marked subcutaneous edema. Histological examination of liver revealed periportal and port-portal islands of fibrosis separating the parenchyma into nodules of variable sizes and containing numerous abnormally shaped bile ducts. The CHF should be considered in the differential diagnosis in young calves that present with ascites.
RESUMO: A fibrose hepática congênita (FHC) é uma malformação autossômica recessiva, caracterizada por um variável grau de fibrose e proliferação de ductos biliares, descrita principalmente em pessoas, e raramente relatada em bovinos de raças europeias. Além da fibrose hepática em bezerros, esta síndrome tem sido associada à ascite e edema subcutâneo. O presente trabalho apresenta os achados anatomopatológicos do primeiro relato de FHC em um feto bovino da raça nelore. O bezerro natimorto foi retirado por meio de cesariana devido à distocia. Na necropsia foram verificadas alterações características da FHC, como grande aumento de volume abdominal associado à fibrose hepática e marcado edema subcutâneo. O exame histológico do fígado revelou ilhas de fibrose periportal e porto-portal, separando o parênquima em nódulos de tamanhos variáveis e contendo numerosos ductos biliares irregulares de tamanhos anormais.
RESUMO
We reviewed information on dairy cattle production systems in the tropics, the factors involved, and their influence on milk composition. Genetic factors had greater influence on milk production; specialized breeds produced more milk, and there was an inverse relation between the content of fat, protein, total solids, and the amount of milk produced. Season was related to the availability of forage, and the type of grazing system. Greater pasture area increased individual production, while a greater supply of feed concentrate did not increase milk production. The number of calvings positively affected milk production through the fifth calving, with subsequent declines in production. Milk production increased to a maximum and then declined as lactation progressed. Specialized systems had higher production and better hygienic milk quality; milking and container equipment are critical for maintaining milk sanitary quality. Factor interaction is highly complex, preventing the generation of specific recommendations and general principles applicable to the specific conditions for each system.
Assuntos
Bovinos/fisiologia , Indústria de Laticínios , Leite/normas , Animais , Bovinos/classificação , Bovinos/genética , Indústria de Laticínios/métodos , Feminino , Estações do Ano , Clima TropicalRESUMO
Introducción: Existen pocas investigaciones sobre factores de riesgo de tumores renales pediátricos. Objetivo: Caracterizar en detalle regiones geográficas de alta incidencia de tumores renales pediátricos en el centro de Argentina y su posible vinculación con factores de riesgo genéticos. Métodos: El área de estudio comprendió la provincia de Córdoba (Argentina). Se generó una base de datos de incidencia del cáncer renal infantil con información del Registro Provincial de Tumores. Se realizaron análisis de conglomerados espaciotemporales. En localidades dentro de los conglomerados, se llevaron a cabo entrevistas en profundidad a informantes claves. Resultados: Se registraron 56 casos de tumores renales pediátricos en el Registro en el periodo 2004-2013. Se detectó un conglomerado espacial significativo que abarca siete departamentos de la provincia. En esa región se concretaron seis entrevistas en profundidad a informantes claves. Los entrevistados resaltaron la mayor frecuencia de enfermedad genética de Sandhoff y las prácticas de endogamia (corroboradas en numerosos resultados científicos). A partir de estos datos se determinaron zonas de superposición de tumores renales y de la enfermedad de Sandhoff. Conclusiones: Se detectó una región particular de la provincia con alta frecuencia de tumores renales pediátricos y de la enfermedad de Sandhoff. Numerosos estudios científicos determinan que la endogamia es el factor de riesgo que aumenta la frecuencia de esta enfermedad en esta región. En futuras investigaciones se deberá corroborar si la endogamia también actúa aumentando la incidencia de tumores renales infantiles(AU)
Introduction: There is little research on risk factors of pediatric renal tumors. Objective: To characterize in detail the geographic regions of greatest incidence of pediatric renal tumors in central Argentina and exploring their possible link to genetic risk factors. Methods: The study area comprised the province of Córdoba (Argentina), and a database of pediatric renal tumors incidence was generated with information from the Provincial Tumor Registry. Analyses of spatio-temporal clusters were performed. In-depth interviews with key informants were carried out at localities within the conglomerates. Results: 56 cases of pediatric renal tumors were registered in the Provincial Registry of Tumors between 2004 and 2013. A significant spatial conglomerate was detected, covering seven districts of the province. In that region, six in-depth interviews were conducted with key informants. Interviewees highlighted the increased frequency of Sandhoff genetic disease and endogamous practices (corroborated in numerous scientific results). From these data, zones of overlap of renal tumors and of Sandhoff disease were determined. Conclusions: A particular region of the province was detected with high frequency of pediatric renal tumors and Sandhoff disease. Numerous scientific studies have determined that endogamy is the risk factor that increases the frequency of Sandhoff disease in this region. In future research, it should be confirmed whether it also acts by increasing the incidence of renal tumors in children(AU)
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Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Consanguinidade , Predisposição Genética para Doença/etiologia , Neoplasias Renais/complicações , Neoplasias Renais/epidemiologia , Argentina , Conglomerados Espaço-Temporais , Neoplasias Renais/genéticaRESUMO
Chagas disease is a complex tropical pathology caused by the kinetoplastid Trypanosoma cruzi. This parasite displays massive genetic diversity and has been classified by international consensus in at least six Discrete Typing Units (DTUs) that are broadly distributed in the American continent. The main clinical manifestation of the disease is the chronic chagasic cardiomyopathy (CCC) that is lethal in the infected individuals. However, one intriguing feature is that only 30-40% of the infected individuals will develop CCC. Some authors have suggested that the immune response, host genetic factors, virulence factors and even the massive genetic heterogeneity of T. cruzi are responsible of this clinical pattern. To date, no conclusive data support the reason why a few percentages of the infected individuals will develop CCC. Therefore, we decided to conduct a systematic review analysing the host genetic factors, immune response, cytokine production, virulence factors and the plausible association of the parasite DTUs and CCC. The epidemiological and clinical implications are herein discussed.
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Cardiomiopatias/parasitologia , Doença de Chagas/imunologia , Citocinas/imunologia , Heterogeneidade Genética , Imunidade Inata , Trypanosoma cruzi/genética , Fatores de Virulência/imunologia , Cardiomiopatias/imunologia , Doença de Chagas/parasitologia , Interações Hospedeiro-Parasita , HumanosRESUMO
Dental implants provide a predictable treatment option for partial and complete edentulism via the placement of a fixed permanent artificial root to support prosthetic dental crowns. Despite the high survival rates, long-term dental implant failures are still reported, leading to implant removals and additional financial and health burdens. While extrinsic factors that improve the success rate of implants have been well explored, the impact of genetic factors on this matter is poorly understood. A systematic review and meta-analysis study was conducted to determine whether genetic factors contribute to an increased risk of dental implant failures. A comprehensive search for peer-reviewed articles on dental implants and genetic factors was performed using various literature database libraries. The study design was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines, and the obtained records were registered in the International Prospective Register of Systematic Reviews (PROSPERO) database. According to the exclusion/inclusion criteria, 13 studies were eligible for this study out of 809 articles. The meta-analysis of the combined association studies of DNA variations and dental implants did not indicate an increased risk for implant failure due to DNA variations in IL-1B, IL-10 and TNF-α. This study emphasizes the need for larger randomized controlled clinical trials to inform clinicians and patients about the role of genetic factors on dental implant survival and the success rate in healthy and compromised patients.