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INTRODUCTION: Pharmacogenetics evaluates how genetic variations influence drug responses. Nowadays, genetic tests have advanced, becoming more affordable, and its integration is supported by stronger clinical evidence. Guidelines such as those from CPIC (Clinical Pharmacogenetics Implementation Consortium) and resources like PharmGKB facilitate genotype-based prescribing; and organizations like the FDA promote genetic testing before initiating certain medications. Preventive pharmacogenetic panels seem promising, but further research on biomarkers and diverse populations is needed. The aim of this review is to analyze recent evidence on the genotype-drug response relationship to examine how the genetic profile of patients influences the clinical response to treatments, and analyze the areas of research that need further study to advance towards a genetic-based precision medicine. MATERIALS AND METHODS: A systematic search was conducted on PubMed to identify articles investigating the genotype-drug response relationship. The search strategy included terms such as "pharmacogenetics", "personalized treatment", "precision medicine", "dose adjustment", "individualized dosing", "clinical routine" and "clinical practice." Clinical trials, observational studies, and meta-analyses published in English or Spanish between 2013 and 2023 were included. The initial search resulted in a total of 136 articles for analysis. RESULTS: 49 articles were included for the final analysis following review by two investigators. A relationship between genetic polymorphisms and drug response or toxicity was found for drugs such as opioids, GLP-1 agonists, tacrolimus, oral anticoagulants, antineoplastics, atypical antipsychotics, efavirenz, clopidogrel, lamotrigine, anti-TNF-α agents, voriconazole, antidepressants, or statins. However, for drugs like metformin, quetiapine, irinotecan, bisoprolol, and anti-VEGF agents, no statistically significant association between genotype and response was found. CONCLUSION: The studies analyzed in this review suggest a strong correlation between genetic variability and individual drug responses, supporting the use of pharmacogenetics for treatment optimization. However, for certain drugs like metformin or quetiapine, the influence of genotype on their response remains unclear. More studies with larger sample sizes, greater ethnic diversity, and consideration of non-genetic factors are needed. The lack of standardization in analysis methods and accessibility to genetic testing are significant challenges in this field. As a conclusion, pharmacogenetics shows immense potential in personalized medicine, but further research is required.
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Desde los años ochenta se ha explorado el tratamiento para el virus de la hepatitis C, aunque en ese entonces los medicamentos disponibles eran poco toleradas y poco eficaces. En el 2011, la introducción de antivirales de acción directa transformó significativamente el curso de la enfermedad, logrando tasas de curación superiores al 90 % en los pacientes. Este avance ha permitido prevenir complicaciones futuras con efectos adversos mínimos. La presente revisión aborda la línea de tiempo del descubrimiento de los antivirales, su mecanismo de acción, sus indicaciones y potencial impacto en la salud pública.
Since the 1980s, the treatment of hepatitis C has been explored, although at that time, the available medications were poorly tolerated and ineffective. In 2011, the introduction of direct-acting antivirals significantly transformed the course of the disease, achieving cure rates of over 90% in patients. This advance has made it possible to prevent future complications with minimal adverse effects. This review addresses the timeline of the discovery of antivirals, their mechanism of action, and their impact on medicine.
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INTRODUCTION: Pharmacogenetics evaluates how genetic variations influence drug responses. Nowadays, genetic tests have advanced, becoming more affordable, and its integration is supported by stronger clinical evidence. Guidelines such as those from CPIC (Clinical Pharmacogenetics Implementation Consortium) and resources like PharmGKB facilitate genotype-based prescribing; and organizations like the FDA promote genetic testing before initiating certain medications. Preventive pharmacogenetic panels seem promising, but further research on biomarkers and diverse populations is needed. The aim of this review is to analyze recent evidence on the genotype-drug response relationship to examine how the genetic profile of patients influences the clinical response to treatments, and analyze the areas of research that need further study to advance towards a genetic-based precision medicine. MATERIALS AND METHODS: A systematic search was conducted on PubMed to identify articles investigating the genotype-drug response relationship. The search strategy included terms such as "pharmacogenetics", "personalized treatment", "precision medicine", "dose adjustment", "individualizing dosing", "clinical routine", and "clinical practice." Clinical trials, observational studies, and meta-analyses published in English or Spanish between 2013 and 2023 were included. The initial search resulted in a total of 136 articles for analysis. RESULTS: 49 articles were included for the final analysis following review by 2 investigators. A relationship between genetic polymorphisms and drug response or toxicity was found for drugs such as opioids, GLP-1 agonists, tacrolimus, oral anticoagulants, antineoplastics, atypical antipsychotics, efavirenz, clopidogrel, lamotrigine, anti-TNFα agents, voriconazole, antidepressants, or statins. However, for drugs like metformin, quetiapine, irinotecan, bisoprolol, and anti-VEGF agents, no statistically significant association between genotype and response was found. CONCLUSION: The studies analyzed in this review suggest a strong correlation between genetic variability and individual drug responses, supporting the use of pharmacogenetics for treatment optimization. However, for certain drugs like metformin or quetiapine, the influence of genotype on their response remains unclear. More studies with larger sample sizes, greater ethnic diversity, and consideration of non-genetic factors are needed. The lack of standardization in analysis methods and accessibility to genetic testing are significant challenges in this field. As a conclusion, pharmacogenetics shows immense potential in personalized medicine, but further research is required.
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RESUMEN Introducción: Se ha tratado de identificar los factores genéticos relacionados con susceptibilidad para enfermedad inflamatoria intestinal (EII), y los hallazgos actuales se inclinan por un modelo de patología complejo, sin un patrón hereditario claro. Objetivo: Realizar caracterización fenotípica y genotípica de pacientes con EII en población colombiana y describir su posible asociación con predisposición. Materiales y métodos: Serie de casos, 16 pacientes con EII por criterios clínicos y anatomopatológicos, inicio de síntomas gastrointestinales después de los 18 años. Todos tuvieron asesoramiento genético pre-test y se realizaron árboles genealógicos de mínimo tres generaciones. También, genotipificación, por medio de un panel de genes múltiples que incluía genes relacionados con EII y algunos trastornos autoinmunitarios. Finalmente, se realizó análisis genómico de variantes. Resultados: 9 mujeres y 7 hombres, con edad media de diagnóstico de EII 35 años, y 32 años para aparición de síntomas gastrointestinales. 11/16(68,75%) requirieron terapia biológica. 10/16 (62,5%) presentaron refractariedad a terapia estándar. 3/16 (18,75%) tenían antecedentes familiares positivos de EII. 100% casos presentaron al menos un single nucleotide polymorphism relacionado con riesgo de EII en más de un gen. Los genes más relacionados con colitis ulcerosa (CU), fueron CD48, CD6, y TYK2 para CU, y CD6 e ITGAM para la enfermedad de Crohn. El gen más frecuente fue CD6. Se observó en 3/16 (18,75%) presencia de hasta 5 genes, 4 en 3/16 (18,75%), y tres en 5/16 (31,25%). Conclusión: En EII hay presencia de variantes genéticas con predisposición asociada, pero sin patogenicidad confirmada, y cuya sumatoria parece contribuir en su fisiopatología.
ABSTRACT Introduction: Attempts have been made to identify the genetic factors related to susceptibility to inflammatory bowel disease (IBD), and the current conclusions are in favor of a complex pathology model, without a clear hereditary pattern. Objective: To perform phenotypic and genotypic characterization of patients with IBD in Colombian population and to describe its possible association with predisposition. Materials and methods: case series, 16 patients with IBD according to clinical and pathological criteria, onset of gastrointestinal symptoms after 18 years of age. All had pre-test genetic counseling and family trees of at least three generations were made. Also, genotyping, using a multigene panel that included genes related to IBD and some autoimmune disorders. Finally, a genomic analysis of variants was performed. Results: 9 women and 7 men, with mean age of diagnosis of IBD of 35 years, and gastrointestinal symptoms appearance of 32 years. 11/16 (68.75%) required biological therapy. 10/16 (62.5%) were refractory to standard therapy. 3/16 (18.75%) had positive family history of IBD. 100% cases presented at least one single nucleotide polymorphism related to IBD risk in more than one gene. The genes most related to ulcerative colitis (UC) were CD48, CD6, and TYK2 for UC, and CD6 and ITGAM for Crohn's disease. The most frequent gene was CD6. It was found presence of up to 5 genes in 3/16 (18.75%), 4 in 3/16 (18.75%), and three in 5/16 (31.25%). Conclusion: In IBD there is the presence of genetic variants with associated predisposition, but without confirmed pathogenicity, and whose sum seems to contribute to its pathophysiology.
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Abstract Transplanting time and genotype contribute to improving crop yield and quality of eggplant (Solanum melongena L.). A field experiment was conducted to investigate the impact of foliar applied of triacontanol (TRIA) and eggplant genotypes 25919, Nirala, 28389 and Pak-10927,transplanted on 1 March,15 March, and 1 April on exposure to high air temperature conditions. The experiment was performed according to Randomized Complete Block Design and the data was analyzed by using Tuckey,s test . The TRIA was applied at 10µM at flowering stage; distilled water was used as the control. Rate of photosynthesis and transpiration, stomatal conductance, water use efficiency, and effects on antioxidative enzymes (superoxide dismutase, catalase and peroxidase) were evaluated. The 10µM TRIA increased photosynthesis rate and water use efficiency and yield was improved in all genotypes transplanted at the different dates. Foliar application of 10µM TRIA increased antioxidative enzyme activities (SOD, POD & CAT) and improved physiological as well as biochemical attributes of eggplant genotypes exposed to high heat conditions. Highest activity of dismutase enzyme 5.41mg/1g FW was recorded in Nirala genotype in second transplantation. Whereas, lowest was noted in PAK-10927 (2.30mg/g FW). Maximum fruit yield was found in accession 25919 (1.725kg per plant) at 1st transplantation with Triacontanol, whereas accession PAK-10927 gave the lowest yield (0.285 kg per plant) at control treatment on 3rd transplantation. Genotype, transplanting date and application of TRIA improved growth, yield and quality attributes under of heat stress in eggplant.
Resumo O tempo de transplante e o genótipo contribuem para melhorar a produtividade e a qualidade da cultura da berinjela (Solanum melongena L.). Um experimento de campo foi conduzido para investigar o impacto da aplicação foliar de triacontanol (TRIA) e genótipos de berinjela 25919, Nirala, 28389 e Pak-10927, transplantados em 1 de março, 15 de março e 1 de abril de exposição a condições de alta temperatura do ar. O experimento foi realizado de acordo com o Randomized Complete Block Design e os dados foram analisados pelo teste de Tuckey. O TRIA foi aplicado a 10 µM na fase de floração; água destilada foi utilizada como controle. Taxa de fotossíntese e transpiração, condutância estomática, eficiência do uso da água e efeitos sobre as enzimas antioxidantes (superóxido dismutase, catalase e peroxidase) foram avaliados. O TRIA 10 µM aumentou a taxa de fotossíntese e a eficiência do uso da água e o rendimento foi melhorado em todos os genótipos transplantados nas diferentes datas. A aplicação foliar de TRIA 10µM aumentou as atividades das enzimas antioxidantes (SOD, POD e CAT) e melhorou os atributos fisiológicos e bioquímicos de genótipos de berinjela expostos a condições de alto calor. A atividade mais elevada da enzima dismutase 5,41mg / 1g FW foi registrada no genótipo Nirala no segundo transplante. Considerando que o mais baixo foi observado em PAK-10927 (2,30 mg / g FW). A produtividade máxima de frutos foi encontrada no acesso 25919 (1,725 kg por planta) no 1º transplante com Triacontanol, enquanto o acesso PAK-10927 deu a menor produção (0,285 kg por planta) no tratamento de controle no 3º transplante. Genótipo, data de transplante e aplicação de TRIA, melhoramento do crescimento, rendimento e atributos de qualidade sob estresse térmico em berinjela.
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Abstract Transplanting time and genotype contribute to improving crop yield and quality of eggplant (Solanum melongena L.). A field experiment was conducted to investigate the impact of foliar applied of triacontanol (TRIA) and eggplant genotypes 25919, Nirala, 28389 and Pak-10927,transplanted on 1 March,15 March, and 1 April on exposure to high air temperature conditions. The experiment was performed according to Randomized Complete Block Design and the data was analyzed by using Tuckey,s test . The TRIA was applied at 10µM at flowering stage; distilled water was used as the control. Rate of photosynthesis and transpiration, stomatal conductance, water use efficiency, and effects on antioxidative enzymes (superoxide dismutase, catalase and peroxidase) were evaluated. The 10µM TRIA increased photosynthesis rate and water use efficiency and yield was improved in all genotypes transplanted at the different dates. Foliar application of 10µM TRIA increased antioxidative enzyme activities (SOD, POD & CAT) and improved physiological as well as biochemical attributes of eggplant genotypes exposed to high heat conditions. Highest activity of dismutase enzyme 5.41mg/1g FW was recorded in Nirala genotype in second transplantation. Whereas, lowest was noted in PAK-10927 (2.30mg/g FW). Maximum fruit yield was found in accession 25919 (1.725kg per plant) at 1st transplantation with Triacontanol, whereas accession PAK-10927 gave the lowest yield (0.285 kg per plant) at control treatment on 3rd transplantation. Genotype, transplanting date and application of TRIA improved growth, yield and quality attributes under of heat stress in eggplant.
Resumo O tempo de transplante e o genótipo contribuem para melhorar a produtividade e a qualidade da cultura da berinjela (Solanum melongena L.). Um experimento de campo foi conduzido para investigar o impacto da aplicação foliar de triacontanol (TRIA) e genótipos de berinjela 25919, Nirala, 28389 e Pak-10927, transplantados em 1 de março, 15 de março e 1 de abril de exposição a condições de alta temperatura do ar. O experimento foi realizado de acordo com o Randomized Complete Block Design e os dados foram analisados pelo teste de Tuckey. O TRIA foi aplicado a 10 µM na fase de floração; água destilada foi utilizada como controle. Taxa de fotossíntese e transpiração, condutância estomática, eficiência do uso da água e efeitos sobre as enzimas antioxidantes (superóxido dismutase, catalase e peroxidase) foram avaliados. O TRIA 10 µM aumentou a taxa de fotossíntese e a eficiência do uso da água e o rendimento foi melhorado em todos os genótipos transplantados nas diferentes datas. A aplicação foliar de TRIA 10µM aumentou as atividades das enzimas antioxidantes (SOD, POD e CAT) e melhorou os atributos fisiológicos e bioquímicos de genótipos de berinjela expostos a condições de alto calor. A atividade mais elevada da enzima dismutase 5,41mg / 1g FW foi registrada no genótipo Nirala no segundo transplante. Considerando que o mais baixo foi observado em PAK-10927 (2,30 mg / g FW). A produtividade máxima de frutos foi encontrada no acesso 25919 (1,725 kg por planta) no 1º transplante com Triacontanol, enquanto o acesso PAK-10927 deu a menor produção (0,285 kg por planta) no tratamento de controle no 3º transplante. Genótipo, data de transplante e aplicação de TRIA, melhoramento do crescimento, rendimento e atributos de qualidade sob estresse térmico em berinjela.
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Solanum melongena/genética , Solanum melongena/metabolismo , Fotossíntese , Resposta ao Choque Térmico , Álcoois Graxos , Antioxidantes/metabolismo , Antioxidantes/farmacologiaRESUMO
Resumen OBJETIVO: Determinar la prevalencia de alteraciones en la citología anal, infección anal por virus del papiloma humano y en la neoplasia intraepitelial anal; además, explorar los factores de riesgo y los serotipos asociados en pacientes con lesión intraepitelial cervical de alto grado, a partir de la hipótesis de que esta población tiene mayor riesgo de lesiones precursoras o cáncer anal. MATERIALES Y MÉTODOS: Estudio observacional, descriptivo y transversal, con componente analítico, efectuado en pacientes con diagnóstico de lesión intraepitelial cervical de alto grado (LIEAG) en dos instituciones de salud: una privada y otra pública de Bogotá, atendidas entre enero de 2017 y febrero de 2018. Se efectuó un muestreo no probabilístico, por conveniencia. RESULTADOS: Se incluyeron 119 participantes, en 4 de ellas se evidenció, en la citología anal, el hallazgo de células anormales en el tejido que reviste la parte exterior del cuello uterino. Se encontraron 14 anoscopias anormales que dieron una prevalencia de neoplasia intraepitelial anal del 6.7%. Siete eran neoplasia intraepitelial anal de bajo grado y una de alto grado. Se encontró infección por VPH anal en 45 participantes (37.8%) y se detectaron genotipos de VPH-AR en 29 participantes (24.4%). Más de 3 compañeros sexuales, más de 3 hijos y tener menos de 21 años antes del primer embarazo tuvieron un valor de p < 0.05 que confiere mayor riesgo de infección por VPH anal. CONCLUSIÓN: Es importante establecer en Colombia protocolos para la detección de la neoplasia intraepitelial anal en grupos de alto riesgo, como las pacientes con neoplasia intraepitelial cervical o cáncer de cuello uterino, e incentivar el adiestramiento en la anoscopia de alta resolución en especialistas relacionados con el diagnóstico de patología anogenital.
Abstract OBJECTIVE: To determine the prevalence of alterations in anal cytology, anal human papillomavirus infection, and anal intraepithelial neoplasia, and to explore the risk factors and associated serotypes in patients with high-grade cervical intraepithelial lesion, based on the hypothesis that this population is at higher risk for precancerous lesions or anal cancer. MATERIALS AND METHODS: Observational, descriptive, cross-sectional study, with analytical component, performed in patients diagnosed with high-grade cervical intraepithelial lesion (HG-CIL) in two health institutions: one private and one public in Bogota, visited between January 2017 and February 2018. A non-probabilistic sampling was performed, by convenience, with a sample calculated in 124 patients. RESULTS: 119 participants were included, in 4 of them it was evidenced in the anal cytology, the finding of abnormal cells in the tissue lining the outside of the cervix. Fourteen abnormal anoscopies were found, giving a prevalence of anal intraepithelial neoplasia of 6.7%. Seven were low-grade anal intraepithelial neoplasia and one was high-grade. Anal HPV infection was detected in 45 participants (37.8%) and HR-HPV genotypes were detected in 29 participants (24.4%). More than 3 sexual partners, more than 3 children and being younger than 21 years before first pregnancy had a p-value < 0.05 conferring an increased risk of anal HPV infection. CONCLUSION: It is important to establish protocols in Colombia for the detection of anal intraepithelial neoplasia in high-risk groups, such as patients with cervical intraepithelial neoplasia or cervical cancer, and to promote training in high-resolution anoscopy in specialties related to the diagnosis of anogenital pathology.
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Abstract Trypanosoma evansi is reportedly divided into two genotypes: types A and B. The type B is uncommon and reportedly limited to Africa: Kenya Sudan, and Ethiopia. In contrast, type A has been widely reported in Africa, South America, and Asia. However, Trypanosoma evansi type non-A/B has never been reported. Therefore, this study aims to determine the species and genotype of the Trypanozoon subgenus using a robust identification algorithm. Forty-three trypanosoma isolates from Indonesia were identified as Trypanosoma evansi using a molecular identification algorithm. Further identification showed that 39 isolates were type A and 4 isolates were possibly non-A/B types. The PML, AMN-SB1, and STENT3 isolates were likely non-A/B type Trypanosoma evansi isolated from buffalo, while the PDE isolates were isolated from cattle. Cladistic analysis revealed that Indonesian Trypanosoma evansi was divided into seven clusters based on the gRNA-kDNA minicircle gene. Clusters 6 and 7 are each divided into two sub-clusters. The areas with the highest genetic diversity are the provinces of Banten, Central Java (included Yogyakarta), and East Nusa Tenggara. The Central Java (including Yogyakarta) and East Nusa Tenggara provinces, each have four sub-clusters, while Banten has three.
Resumo Trypanosoma evansi é reportado como dividido em dois genótipos: tipos A e B. O tipo B é incomum e reportado como limitado à África: Quênia, Sudão e Etiópia. Em contraste, o tipo A tem sido amplamente relatado na África, América do Sul e Ásia. No entanto, Trypanosoma evansi tipo não-A/B nunca foi relatado. Portanto, este estudo tem como objetivo determinar a espécie e o genótipo do subgênero Trypanozoon, utilizando-se um algoritmo robusto de identificação. Quarenta e três isolados de tripanosoma da Indonésia foram identificados como Trypanosoma evansi, usando-se um algoritmo de identificação molecular. A identificação adicional mostrou que 39 isolados eram do tipo A e 4 isolados eram, possivelmente, do tipo não A/B. Os isolados PML, AMN-SB1 e STENT3 foram, provavelmente, Trypanosoma evansi do tipo não A/B isolado de búfalos, enquanto os isolados de PDE foram isolados de bovinos. A análise cladística revelou que o Trypanosoma evansi indonésio foi dividido em sete grupos baseados no gene do minicírculo gRNA-kDNA. Os clusters 6 e 7 foram divididos cada um em dois subclusters. As áreas com maior diversidade genética são as províncias de Banten, Java Central (incluindo Yogyakarta) e East Nusa Tenggara. As de Java Central (incluindo Yogyakarta) e East Nusa Tenggara têm, cada uma, quatro subgrupos, enquanto Banten tem três.
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Resumen Antecedentes: Chlamydia trachomatis es la bacteria que se detecta con mayor frecuencia en las infecciones de transmisión sexual. Se han identificado 20 genotipos de C. trachomatis mediante el gen ompA y varias genovariantes mediante el análisis de polimorfismo de un solo nucleótido (SNP). En México, el genotipo F es el más frecuente. Objetivo: Identificar la existencia de subtipos del genotipo F. Método: Se analizaron siete cepas del genotipo F de C. trachomatis aisladas en 2011, mediante secuenciación de nucleótidos y mapeo con enzimas de restricción. Resultados: El análisis de SNP mostró dos cepas con el mismo SNP en el nucleótido 288 (C288T), mientras que con enzimas de restricción se identificó una variante con diferente RFLP (polimorfismo de la longitud de fragmentos de restricción) cuando se tratan con la mezcla de enzimas HinfI y TaqI. Conclusión: En México se encuentran dos subtipos del genotipo F y solo las enzimas de restricción HinfI y TaqI pueden identificar la existencia de uno de estos genotipos F.
Abstract Background: Chlamydia trachomatis is the most frequently identified bacterium in sexually transmitted infections. Twenty C. trachomatis genotypes have been determined using the ompA gene and several genovariants by single nucleotide polymorphism (SNP) analysis. In Mexico, the F genotype is the most frequent. Objective: To identify subtypes of the F genotype. Method: Seven C. trachomatis genotype F strains isolated in 2011 were analyzed by nucleotide sequencing and restriction enzyme mapping. Results: SNP analysis showed two strains with the same SNP at nucleotide 288 (C288T), while with res-triction enzymes, a variant with different RFLP (restriction fragment length polymorphism) was identified when treated with the mixture of HinfI and TaqI enzymes. Conclusion: In Mexico, there are two subtypes of F, and only with restriction enzymes HinfI and TaqI can identify one of the genovariants of the F genotype.
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Resumo Fundamento Genes e suas variantes associadas a fatores ambientais contribuem para o desenvolvimento do fenótipo hipertenso. O gene da subunidade beta 3 da proteína G ( GNB3 ) está envolvido no processo de sinalização intracelular e suas variantes têm sido relacionadas à suscetibilidade à hipertensão arterial. Objetivo Determinar a associação da variante GNB3 (rs5443:C>T) com a hipertensão arterial, parâmetros bioquímicos, idade e obesidade em indivíduos hipertensos e normotensos de Ouro Preto, Minas Gerais. Método A identificação das variantes foi realizada por PCR em tempo real, utilizando o sistema TaqMan®, em amostras de 310 pacientes (155 hipertensos e 155 normotensos). Análises bioquímicas (função renal, perfil lipídico e glicemia) foram realizadas a partir do soro por meio de espectrofotometria UV/Vis e eletrodo íon-seletivo. Foi utilizado um modelo de regressão logística múltipla para identificar fatores associados à hipertensão arterial. A análise das variáveis contínuas com distribuição normal foi realizada usando o teste t de Student não pareado; dados não normais foram analisados usando o teste de Mann-Whitney. Valores de p < 0,05 foram considerados significativos. Resultados A variante rs5443:C>T não esteve associada à hipertensão arterial na população avaliada (p = 0,88). Em relação às medidas bioquímicas, o alelo T esteve associado a níveis elevados de triglicerídeos, glicose e ácido úrico em indivíduos hipertensos (p < 0,05). Conclusão Os presentes resultados mostram a importância do diagnóstico genético para prevenir as causas e consequências de doenças e sugerem que a variante GNB3 rs5443:C>T pode estar associada a alterações no perfil bioquímico em indivíduos hipertensos.
Abstract Background Genes and their variants associated with environmental factors contribute to the development of the hypertensive phenotype. The G protein beta 3 subunit gene (GNB3) is involved in the intracellular signaling process, and its variants have been related to susceptibility to arterial hypertension. Objective To determine the association of the GNB3 variant (rs5443:C>T) with arterial hypertension, biochemical parameters, age, and obesity in hypertensive and normotensive individuals from Ouro Preto, Minas Gerais, Brazil. Method The identification of variants was performed by real-time PCR, using the TaqMan® system, in 310 samples (155 hypertensive and 155 normotensive). Biochemical analyses (renal function, lipid profile and glycemia) were performed from the serum using UV/Vis spectrophotometry and ion-selective electrode. A multiple logistic regression model was used to identify factors associated with arterial hypertension. The analysis of continuous variables with normal distribution was performed using the unpaired Student's t test; non-normal data were analyzed using Mann-Whitney. P < 0.05 was considered significant. Results The rs5443:C>T variant was not associated with arterial hypertension in the evaluated population (p = 0.88). Regarding biochemical measures, the T allele was associated with high levels of triglycerides, glucose and uric acid in hypertensive individuals (p < 0.05). Conclusion These results show the importance of genetic diagnosis to prevent the causes and consequences of diseases and imply that the GNB3 rs5443:C>T variant may be associated with changes in the biochemical profile in hypertensive individuals.
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BACKGROUND: The aim of this study was to investigate the prevalence, genotype, and distribution of cervical human papillomavirus (HPV) in women living in southeast Turkey. MATERIALS AND METHODs: A total of 13,300 cervical smear materials were scanned and 899 cases found to be HPV-positive were included in the study. Cases were divided into seven groups according to age (under 19 years of age, 20-24, 25-29, 30-39, 40-49, 50-59, and over 60 years old) and six groups according to HPV types (HPV type 16, HPV type 18, HPV type 16-18 association, HPV type 16-high risk (HR) association, HPV Type 18-HR association, and HPV HR [31,33,35,39,45, 51,52,56,58,59,66, and 68]). SurePath liquid-based cytology preparations were evaluated, and HPV tests were performed using real-time-polymerase chain reaction. RESULTS: A total of 6.7% of cervical smear samples were positive for HPV DNA. The mean age of these cases was 41 years (range 15-78 years). All HPV types showed the highest rate of positivity in the 30-39 age groups. Regarding the distribution of HPV types, most of the cases were in the HPV HR group (66%). The most common atypia category detected in cytological examination was "Atypical squamous cells of undetermined significance" (ASC-US) (27%). CONCLUSIONS: It was determined that the prevalence of HPV in the southeast of Turkey is lower than the world average, the most common HPV type in our region is HPV-HR, and HPV peaks at older ages compared to what has been reported for other regions of the world.
OBJETIVO: Investigar la prevalencia, el genotipo y la distribución del virus del papiloma humano (VPH) cervical en mujeres que viven en el sureste de Turquía. MÉTODO: Se revisaron un total de 13.300 materiales de frotis cervical y se incluyeron en el estudio 899 casos que resultaron positivos para VPH. Los casos se dividieron en siete grupos según la edad (menores de 19 años, 20-24, 25-29, 30-39, 40-49, 50-59 y mayores de 60 años) y en seis grupos según los tipos de VPH (VPH tipo 16, VPH tipo 18, asociación VPH tipo 16-18, asociación VPH tipo 16-alto riesgo (AR), asociación VPH tipo 18-AR y VPH HR [31, 33, 35, 39 , 45, 51, 52, 56, 58, 59, 66 y 68]). RESULTADOS: El 6.7% de las muestras de frotis de cuello uterino fueron positivas para ADN del VPH. La edad media de estas pacientes fue de 41 años (rango: 15-78 años). Todos los tipos de VPH mostraron la tasa más alta de positividad en el grupo de 30 a 39 años de edad. En cuanto a la distribución de los tipos de VPH, la mayoría de los casos se encontraban en el grupo VPH AR (66%). La categoría de atipia más común detectada en el examen citológico fue «células escamosas atípicas de significado incierto¼ (ASC-US) (27%). CONCLUSIONES: Se determinó que la prevalencia de VPH en el sureste de Turquía es menor que el promedio mundial.
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Papillomavirus Humano , Infecções por Papillomavirus , Feminino , Humanos , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Infecções por Papillomavirus/diagnóstico , Infecções por Papillomavirus/epidemiologia , Teste de Papanicolaou , Prevalência , Turquia/epidemiologia , Papillomaviridae/genética , GenótipoRESUMO
Abstract Objective: To analyze the association between phenotypic and genotypic characteristics and disease severity in individuals with cystic fibrosis treated at a reference center in Minas Gerais, Brazil. Methods: This is a retrospective study that collected clinical and laboratory data, respiratory and gastrointestinal manifestations, type of treatment, Shwachman-Kulczycki score, and mutations from the patients' medical records. Results: The sample included 50 participants aged one to 33 years, 50% of whom were female. Out of the one hundred alleles of the Cystic Fibrosis Transmembrane Conductance Regulator gene, the most prevalent mutations were DeltaF508 (45%) and S4X (18%). Mutation groups were only associated with pancreatic insufficiency (p=0.013) and not with disease severity (p=0.073). The latter presented an association with colonization by Pseudomonas aeruginosa and Staphylococcus aureus (p=0.007) and with underweight (p=0.036). Death was associated with age at diagnosis (p=0.016), respiratory symptomatology (p=0.013), colonization (p=0.024), underweight (p=0.017), and hospitalization (p=0.003). Conclusions: We could identify the association of mutations with pancreatic insufficiency; the association of Staphylococcus aureus colonization and underweight with disease severity; and the lack of association between mutations and disease severity. Environmental factors should be investigated more thoroughly since they seem to have an important effect on disease severity.
RESUMO Objetivo: Analisar a associação entre as características fenotípicas, genotípicas e a gravidade da doença em indivíduos com fibrose cística atendidos em um centro de referência de Minas Gerais, Brasil. Métodos: Trata-se de um estudo retrospectivo, em que os dados clínicos, laboratoriais, as manifestações respiratórias e gastrointestinais, o tipo de tratamento, o escore de Shwachman-Kulczycki e as mutações foram coletados dos prontuários de registros dos pacientes. Resultados: A amostra incluiu 50 participantes, de um a 33 anos de idade, sendo 50% do sexo feminino. Do total de cem alelos do gene Cystic Fibrosis Transmembrane Conductance Regulator, as mutações mais prevalentes foram Delta F508 (45%) e S4X (18%). Os grupos de mutações apresentaram associação somente (p=0,013) com a insuficiência pancreática e não com a gravidade da doença (p=0,073). Esta última apresentou associação com a colonização por Pseudomonas aeruginosa e Staphylococcus aureus (p=0,007) e com baixo peso (p=0,036). O óbito foi associado com a idade no diagnóstico (p=0,016), a sintomatologia respiratória (p=0,013), a colonização (p=0,024), o baixo peso (p=0,017) e a ocorrência de internação (p=0,003). Conclusões: Foi possível observar associação entre as mutações e a presença de insuficiência pancreática; entre a colonização por Staphylococcus aureus e o baixo peso com a gravidade da doença; e ausência de associação entre as mutações e a gravidade da doença. Os fatores ambientais merecem ser investigados mais detalhadamente, pois parecem apresentar impacto importante na gravidade da doença.
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RESUMEN Objetivo. Describir los brotes de sarampión generados por la múltiple importación de casos y las intervenciones de control. Métodos. Estudio descriptivo de brotes por múltiple importación de casos a Colombia entre 2018-2019. Se utilizaron las definiciones de caso, clasificación de fuente de infección, recolección de muestras biológicas, rastreo de casos sospechosos, identificación y seguimiento de contactos. El antecedente vacunal se obtuvo del carné o del sistema de información de Colombia. La nacionalidad se definió de acuerdo con el registro en el sistema de vigilancia en salud pública. Se empleó el sistema de comando de incidente con equipos de respuesta y planes de acción para controlar los brotes. Resultados. En marzo de 2018 se confirmó el primer caso de sarampión importado de Venezuela. La incidencia en 2018 fue 0,2 casos por 100 000 habitantes y en 2019 fue 0,3. La letalidad en 2019 fue de 0,4%. Se confirmaron 214 casos en población venezolana (91% sin antecedente vacunal). Se estudiaron 69 brotes sin vínculo epidemiológico. Se identificó el genotipo D8 linaje MVi/Hulu Langat.MYS/26.11. Se evitó la circulación endémica a través de intervenciones innovadoras tales como, la vigilancia y control de infecciones, notificación super inmediata, priorización de visitas de campo y criterios de niveles de riesgo de transmisión. Conclusiones. Colombia controló los brotes de sarampión que se presentaron por la importación de casos e impido la circulación endémica para conservar la certificación de la eliminación del virus de sarampión en el país.
ABSTRACT Objective. Describe measles outbreaks caused by importation of multiple cases, and the corresponding control interventions. Methods. Descriptive study of measles outbreaks caused by the importation of multiple cases to Colombia in 2018-2019. Case definitions, classification of source of infection, collection of biological specimens, searches for suspected cases, case identification, and contact tracing were employed. Vaccination records were obtained from vaccination cards or from the Colombian information system. Nationality was determined from records found in the public health surveillance system. The incident command system was used, and response teams and action plans were activated to control outbreaks. Results. In March 2018, the first case of measles imported from Venezuela was confirmed. Measles incidence in 2018 was 0.2 cases per 100 000 population, and it was 0.3 per 100 000 in 2019. The case fatality rate in 2019 was 0.4%. A total of 214 cases were confirmed in the Venezuelan population (91% with no vaccination history); and 69 outbreaks with no epidemiological link were studied. The MVi/Hulu Langat.MYS/26.11[D8] lineage was identified. Endemic circulation was prevented through innovative interventions such as infection surveillance and control, immediate notification, prioritization of field visits, and transmission risk level criteria. Conclusions. Colombia controlled measles outbreaks that resulted from imported cases, and it prevented endemic circulation, thereby maintaining certification of measles elimination in the country.
RESUMO Objetivo. Descrever os surtos de sarampo gerados por múltiplas importações de casos e as intervenções de controle. Métodos. Estudo descritivo de surtos devido a múltiplas importações de casos para a Colômbia entre 2018 e 2019. Foram utilizadas definições de caso, classificação da fonte de infecção, coleta de amostras biológicas, rastreamento de casos suspeitos, identificação e seguimento de contatos. O histórico de vacinação foi obtido do cartão de vacinação ou do sistema de informações da Colômbia. A nacionalidade foi definida de acordo com o registro no sistema de vigilância em saúde pública. O sistema de comando de incidentes foi usado, com equipes de resposta e planos de ação para controlar os surtos. Resultados. O primeiro caso de sarampo importado da Venezuela foi confirmado em março de 2018. Nesse ano, a incidência foi de 0,2 casos por 100 mil habitantes e, em 2019, de 0,3 casos por 100 mil habitantes. A taxa de letalidade em 2019 foi de 0,4%. Um total de 214 casos foi confirmado na população venezuelana (91% sem histórico de vacinação). Foram estudados 69 surtos sem vínculo epidemiológico. Foi identificado o genótipo D8, cepa MVi/Hulu Langat.MYS/26.11. A circulação endêmica foi evitada por meio de intervenções inovadoras, como vigilância e controle de infecções, notificação "superimediata", priorização de visitas de campo e critérios para níveis de risco de transmissão. Conclusões. A Colômbia controlou os surtos de sarampo decorrentes de casos importados e impediu a circulação endêmica a fim de manter a certificação da eliminação do vírus do sarampo no país.
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Introduction. For over a century, Sporothrix schenckii was considered the sole species responsible for sporotrichosis. In 2007, scientific community confirmed the disease could be caused by various Sporothrix species. These species differed in their virulence factors and their antifungal sensitivity. Objective. This study aims to characterize 42 Colombian clinical isolates of Sporothrix spp. phenotypically and genotypically. Materials and methods. Forty-two clinical isolates were characterized using phenotypic methods. It involved various culture media to determine their growth range at different temperatures and to assess the type and distribution of pigment and colony texture. Microscopic morphology was evaluated through microcultures, as well as the conidia diameter, type of sporulation, and morphology. Additionally, the assimilation of carbohydrates was selected as a physiological trait for species identification. Genotyping of 40 isolates was performed through partial amplification of the calmodulin gene, followed by sequence analysis. Results. Molecular studies enabled the identification of 32 isolates of S. schenckii and 8 isolates of S. globosa. The combination of phenotypic and genotypic methods eased these species characterizations and the recognition keys development based on parameters such as growth diameter at 25 and 30 °C, colony texture (membranous or velvety) on potato dextrose agar, and microscopic morphology with predominance of pigmented triangular, elongated oval globose, or subglobose conidia. Conclusions. Confirmation of the phenotypic characteristics and molecular analysis is crucial for identifying Sporothrix species and determining adequate treatment. This study represents the first phenotypical and genotypical characterization of clinical isolates of Sporothrix spp. reported in Colombia.
Introducción. Por más de un siglo se creyó que Sporothrix schenckii era la única especie responsable de la esporotricosis. Sin embargo, en el 2007, se consideró que podría ser causada por diferentes especies de Sporothrix, que difieren en sus factores de virulencia y su sensibilidad a los antifúngicos. Objetivo. Caracterizar fenotípica y genotípicamente 42 aislamientos clínicos colombianos de Sporothrix spp. Materiales y métodos. Se caracterizaron 42 aislamientos clínicos mediante métodos fenotípicos. Se usaron varios medios de cultivo para determinar el rango de crecimiento a diferentes temperaturas, el tipo y la distribución del pigmento, y la textura de las colonias. Se evaluó la morfología microscópica por microcultivos mediante la determinación del diámetro, el tipo de esporulación y la morfología de las conidias. La asimilación de carbohidratos se usó como una característica fisiológica para identificar las especies. La genotipificación de los 40 aislamientos se llevó a cabo mediante la amplificación parcial del gen que codifica para la calmodulina y se confirmó por secuenciación. Resultados. Mediante estudios moleculares, se identificaron 32 aislamientos de S. schenckii y ocho de S. globosa. La combinación de métodos fenotípicos y genotípicos permitió caracterizar las especies y construir claves para su reconocimiento, con base en parámetros como el diámetro de crecimiento a 25 y 30 °C, la textura de las colonias (membranosa, aterciopelada) en agar papa dextrosa y la morfología microscópica con predominio de conidias (triangulares pigmentadas, ovales globosas elongadas, subglobosas). Conclusiones. La caracterización fenotípica y los análisis moleculares son necesarios para identificar las especies de Sporothrix y, de esta forma, elegir el tratamiento indicado. Esta es la primera caracterización fenotípica y genotípica reportada de aislamientos clínicos colombianos de Sporothrix spp.
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Esporotricose , Fenótipo , Sporothrix , GenótipoRESUMO
O Virus da Hepatite C (HCV) possui vasta diversidade. Com base nas variações genômicas, existem oito genótipos, designados de G1 a G8, com prevalências distintas de acordo com a região geográfica observada. Objetivo: O objetivo do estudo foi avaliar o perfil epidemiológico, genotípico e carga viral (CV) do HCV. Métodos: Estudo observacional analítico do tipo transversal, com dados de janeiro de 2018 a dezembro de 2021. O estudo analisou dados referentes a genotipagem, CV e do Formulário de Solicitação de CV do HCV, obtidos no Laboratório Estadual de Saúde Pública do estado de Goiás. Resultados: A maioria dos casos de HCV, concentram-se nas macrorregiões de saúde Centro Sudeste (42,90%) e Centro Oeste (34,15%) do Estado, com maior frequência do G1, seguido do G3 e presença dos G2, G4 e G5. O G1 vem diminuindo a frequência no decorrer dos anos, enquanto o G3 aumenta. Em geral, 49,33% dos casos apresentam alta CV (> 1.000.000 UI/mL). Em relação ao sexo, 31,75% dos indivíduos do sexo masculino apresentaram CV nessa mesma faixa, e o sexo feminino com 17,58%. A CV foi consideravelmente alta entre os casos analisados, com o sexo feminino, apresentando CV significativamente menor que o sexo masculino. Foram identificados o subtipo 1d e o G5 incomuns na região Central do Brasil. Conclusão: Os dados apresentados demonstram que o HCV pode estar em expansão, com o aparecimento de novos genótipos, subtipos e demonstra uma mudança na distribuição genotípica, no estado de Goiás nos últimos anos
The Hepatitis C Virus (HCV) has vast diversity. Based on genomic variations, there are eight genotypes, designated from G1 to G8, with different prevalences according to the geographical region observed. Objective: The objective of the study was to evaluate the epidemiological, genotypic and viral load (CV) profile of HCV. Methods: Cross-sectional analytical observational study, with data from January 2018 to December 2021. The study analyzed data relating to genotyping, CV and the HCV CV Request Form, obtained from the State Public Health Laboratory of the state of Goiás. Results: The majority of HCV cases are concentrated in the Central Southeast (42.90%) and Central West (34.15%) health macro-regions of the State, with a higher frequency in G1, followed by G3 and the presence of G2Genotype, G4 and G5. G1 has been decreasing in frequency over the years, while G3 is increasing. In general, 49.33% of cases have high CV (> 1,000,000 IU/mL). In relation to sex, 31.75% of males had CV in the same range, and females had 17.58%. The CV was considerably high among the cases analyzed, with females presenting a significantly lower CV than males. Subtype 1d and G5, uncommon in the Central region of Brazil, were identified. Conclusion: The data presented demonstrate that HCV may be expanding, with the emergence of new genotypes, subtypes and demonstrates a change in genotypic distribution in the state of Goiás in recent years
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Humanos , Masculino , Feminino , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Adulto Jovem , Perfil de Saúde , Hepatite C/epidemiologia , Hepacivirus , Carga Viral , BrasilRESUMO
Introducción: La neurofibromatosis tipo i es una enfermedad hereditaria, autosómica dominante, multisistémica, progresiva con penetrancia completa y expresividad variable. El análisis de las familias con marcadores moleculares permite realizar el diagnóstico por métodos indirectos. Objetivos: Estudiar dos familias cubanas con al menos un caso de neurofibromatosis tipo i e identificar los alelos resultantes del polimorfismo para el diagnóstico molecular. Métodos: Se realizó un estudio descriptivo a dos familias con al menos un caso de neurofibromatosis tipo i. Se extrajo el ADN con la técnica de precipitación salina y fue utilizada la reacción en cadena de la polimerasa para la amplificación del fragmento de interés. Se realizó la digestión enzimática con la enzima Rsai para analizar los alelos del polimorfismo estudiado y posteriormente hacer la electroforesis en gel de agarosa al 2 por ciento. Resultados: Las manifestaciones clínicas más frecuentes fueron las manchas color café con leche, pecas axilares e inguinales y lesiones óseas. Se detectaron los alelos 1 y 2 al analizar el polimorfismo en las muestras. Las frecuencias alélicas fueron 38,5 por ciento y 61,5 por ciento respectivamente. Conclusiones: Fueron identificadas las principales manifestaciones clínicas en los pacientes. La técnica para el análisis del polimorfimo permitió el estudio molecular en las familias con neurofibromatosis tipo i. Se detectaron los alelos del marcador molecular y sus frecuencias. Se realizó el diagnóstico molecular de los individuos sospechosos (AU)
Introduction: Neurofibromatosis type i is a hereditary, autosomal dominant, multisystemic, progressive disease with complete penetrance and variable manifestation. The analysis of families with molecular markers allows diagnosis by indirect methods. Objectives: To study two Cuban families with at least one case of neurofibromatosis type i and to identify the alleles resulting from the polymorphism for molecular diagnosis. Methods: A descriptive study of two families with at least one case of neurofibromatosis type i was performed. DNA was extracted with the saline precipitation technique and polymerase chain reaction was used for amplification of the fragment of interest. Enzymatic digestion was performed with the RsaI enzyme to analyze the alleles of the polymorphism studied and then to perform electrophoresis in 2 percent agarose gel. Results: The most frequent clinical manifestations were café-au-lait spots, axillary and inguinal freckles and bone lesions. Alleles 1 and 2 were detected when analyzing the polymorphism in the samples. The allele frequencies were 38.5 percent and 61.5 percent respectively. Conclusions: The main clinical manifestations in patients were identified. The technique for polymorphism analysis allowed the molecular study in the families with neurofibromatosis type i. The alleles of the molecular marker and their frequencies were detected. Molecular diagnosis of suspected individuals was performed (AU)
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Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Diagnóstico Clínico/diagnóstico , Neurofibromatose 1/diagnóstico , Manchas Café com Leite , Reação em Cadeia da Polimerase/métodos , Epidemiologia Descritiva , Estudo ClínicoRESUMO
Resumen Introducción: El Síndrome de Turner (ST) es una alteración cromosómica sexual causada por la ausencia parcial o completa del cromosoma X, además de mosaicismos y otras alteraciones estructurales del cromosoma X o Y; está presente en 1 de 2500 nacidas vivas. Objetivo: Describir las variantes citogenéticas de pacientes con síndrome de Turner y evaluar su asociación con el fenotipo de presentación y la edad del diagnóstico. Método: Estudio retrospectivo de corte transversal de una serie de 82 casos de síndrome de Turner. Los cariotipos fueron realizados utilizando el medio RPMI-1640; las preparaciones de cromosomas se obtuvieron utilizando técnicas estándar y se analizaron mediante bandas GTG con una resolución de 400-450 bandas, donde se contó con 20-50 metafases para reducir la probabilidad de no detección de mosaicismo. Resultados: 45 (55.6%) fueron diagnosticadas, con monosomía clásica del cromosoma X, mientras 29 (35,8%) mostraron anomalías estructurales del cromosoma X y 7 (8,6%) se asociaron a mosaicos numéricos del cromosoma X. Solo 21 (26%) pacientes fueron diagnosticadas por debajo de los 12 años, mientras el resto 60 (74%) se detectaron entre la adolescencia y la adultez. La baja estatura fue una característica universal en todos los grupos de estudio. Conclusiones: Las fórmulas cromosómicas en el síndrome de Turner pueden ser muy variadas y tener diversas implicaciones en el fenotipo; se destaca la baja talla como un criterio clínico relevante en la sospecha clínica.
Abstract Introduction: Turner Syndrome (TS) is a sexual chromosomal alteration caused by the partial or complete absence of the X chromosome, in addition to mosaicisms and other structural alterations of the X or Y chromosome; It is present in 1 in 2,500 live births. Objective: To describe the cytogenetic variants of Turner syndrome patients and to evaluate their association with the phenotype at presentation and age at diagnosis. Methods: Retrospective cross-sectional study of a series of 82 cases of Turner syndrome. Karyotypes were performed using RPMI-1640 medium; Chromosome preparations were obtained using standard techniques and analyzed by GTG banding with a resolution of 400-450 bands where 20-50 metaphases were counted to reduce the probability of missing mosaicism. Results: 45 (55.6%) were diagnosed with classic monosomy of the X chromosome, while 29 (35.8%) showed structural abnormalities of the X chromosome and 7 (8.6%) were associated with numerical mosaics of the X chromosome. Only 21 (26%) patients were diagnosed under 12 years of age, while the rest 60 (74%) were detected between adolescence and adulthood. Short stature was a universal characteristic in all study groups. Conclusions: The chromosomal formulas in Turner syndrome can be variable and have different implications in the phenotype; short stature stands out as a relevant clinical criterion in clinical suspicion.
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Humanos , Feminino , Síndrome de Turner/genética , Fenótipo , Síndrome de Turner/classificação , Reação em Cadeia da Polimerase , Estudos Transversais , Estudos Retrospectivos , Hibridização in Situ Fluorescente , Idade de Início , Análise Citogenética , Cromossomos Humanos X , Equador , Genótipo , Cariotipagem , MonossomiaRESUMO
INTRODUCTION: Natural killer (NK) cells play an important role in defense against tumor cells. The development and function of NK cells is governed by a dynamic balance between inhibition and activation of cell surface receptors, including KIR receptors. PATIENTS AND METHOD: A case-control study is carried out that compares a group of 46 children diagnosed with malignant diseases, the control group is made up of 82 healthy children. KIRs genes, haplotypes and ligands were determined and compared between groups. RESULTS: There are no differences in KIRs genes, KIRs haplotypes or in KIRs gene ligands between groups. However, when KIRS and ligands were jointly studied, k2DS1_C2 was significantly higher in the group of cancer children (p=0.016). CONCLUSIONS: Our results do not provide evidence of an association between pediatric cancer disease with genotypes and groups of genes KIRs. The k2DS1_C2 genotype could predispose to susceptibility to malignant processes in children.
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Neoplasias , Receptores KIR , Estudos de Casos e Controles , Criança , Humanos , Células Matadoras Naturais/metabolismo , Células Matadoras Naturais/patologia , Ligantes , Neoplasias/genética , Neoplasias/patologia , Receptores KIR/genética , Receptores KIR/metabolismoRESUMO
INTRODUCCIÓN: En Chile, el cáncer de cuello uterino (CCU) es la segunda causa de muerte por neoplasias malignas en la mujer. El principal agente causal es el virus papiloma humano (VPH). Comparando con la población general, los o las trabajadoras(es) sexuales (TS) tienen alto riesgo de adquirir VPH. OBJETIVO: Analizar la prevalencia y genotipos del VPH cervical y vaginal en TS que se atienden en un Centro de Salud Sexual de Santiago, Chile. Pacientes y MÉTODO: Se realizó un estudio transversal en 97 mujeres TS, de 19 a 70 años de edad. Se obtuvieron dos muestras por paciente, una de exocérvix y otra de paredes vaginales. El ADN de VPH fue identificado por reacción de polimerasa en cadena (RPC) y su genotipo fue investigado para 32 tipos de VPH. RESULTADOS: La prevalencia de VPH global fue de 45%, observándose portación cervical en 41,2% y vaginal en 36,1%, con una coinfección de 32%. El 63% de las muestras tenía genotipos de alto riesgo. Los VPH de alto riesgo más frecuentes fueron el VPH 66 (12%), VPH 58 (9,3%), seguidos por VPH 16, VPH 59 y VPH 82 con igual frecuencia (8% c/u). Treinta y dos mujeres (43%) fueron infectadas con genotipos múltiples. CONCLUSIÓN: El VPH es una infección frecuente entre las TS. Este es el primer estudio en Chile sobre prevalencia y genotipos de VPH en TS.
BACKGROUND: In Chile, cervical cancer is the second leading cause of death from malignancy in women. The main causal agent of cervical cancer is the human papillomavirus (HPV). Compared with the general population, sex workers (SW) are at increased risk of acquiring HPV. AIM: To analyze the prevalence and genotypes of cervical and vaginal HPV in female SW attending a Sexual Control Centre. METHODS: A cross-sectional study was carried out on 97 women (19-70 years old). Two samples were taken per patient, one from exocervix and the other from vaginal walls. HPV DNA. was identified by polymerase chain reaction (PCR) and genotyping using specific probes for 32 types of HPV. RESULTS: The overall frequency of HPV was 45%, 41.2% in cervical carrier and 36.1% in vaginal carrier, 32% were co-infected, 63% of HPV were high-risk genotypes. The most frequent high-risk HPV was HPV 66 (12%), HPV 58 (9.3%), followed by HPV 16, HPV 59 and HPV 82 with the same frequency (8% each one). Thirty two (43%) of females were infected with multiple genotypes. CONCLUSION: HPV is frequent infection among SW. This is the first study in Chile on the prevalence and genotypes of HPV in sex workers.