RESUMO
Toxoplasmosis is the most prevalent parasitic zoonosis worldwide, causing ocular and neurological diseases. No vaccine has been approved for human use. We evaluated the response of peripheral blood mononuclear cells (PBMCs) to a novel construct of Toxoplasma gondii total antigen in maltodextrin nanoparticles (NP/TE) in individuals with varying infectious statuses (uninfected, chronic asymptomatic, or ocular toxoplasmosis). We analyzed the concentration of IFN-γ after NP/TE ex vivo stimulation using ELISA and the immunophenotypes of CD4+ and CD8+ cell populations using flow cytometry. In addition, serotyping of individuals with toxoplasmosis was performed by ELISA using GRA6-derived polypeptides. Low doses of NP/TE stimulation (0.9 µg NP/0.3 µg TE) achieved IFN-γ-specific production in previously exposed human PBMCs without significant differences in the infecting serotype. Increased IFN-γ expression in CD4+ effector memory cell subsets was found in patients with ocular toxoplasmosis with NP/TE but not with TE alone. This is the first study to show how T-cell subsets respond to ex vivo stimulation with a vaccine candidate for human toxoplasmosis, providing crucial insights for future clinical trials.
Assuntos
Antígenos de Protozoários , Interferon gama , Ativação Linfocitária , Nanopartículas , Polissacarídeos , Toxoplasma , Toxoplasmose , Humanos , Nanopartículas/química , Polissacarídeos/imunologia , Toxoplasma/imunologia , Antígenos de Protozoários/imunologia , Toxoplasmose/imunologia , Interferon gama/metabolismo , Interferon gama/imunologia , Ativação Linfocitária/imunologia , Feminino , Adulto , Leucócitos Mononucleares/imunologia , Leucócitos Mononucleares/metabolismo , Linfócitos T CD4-Positivos/imunologia , Linfócitos T CD4-Positivos/metabolismo , Masculino , Linfócitos T CD8-Positivos/imunologia , Linfócitos T CD8-Positivos/metabolismo , Linfócitos T/imunologia , Linfócitos T/metabolismo , Pessoa de Meia-IdadeRESUMO
The degradability of the biocomposite produced from a binary mixture of thermoplastic banana starch (TPS) and polycaprolactone (PCL) reinforced with fique fibers (Fs) was evaluated in three different environments (soil, compost, water). An experimental design with two factors (soil and compost) and three levels (5, 10, and 20 cm) was used, with additional tests for a third aqueous environment (water from the lake of the Universidad del Valle) at a depth of 20 cm. The biocomposite was prepared from the implementation of a twin-screw extrusion process of the binary mixture TPS/PCL and fique fibers (54, 36, and 10% composition, respectively), followed by hot compression molding, and after that, generating ASTM D638 type V specimens using a stainless-steel die. The specimens were dried and buried according to the experimental design, for a total experimental time of 90 days, and removing samples every 30 days. After 90 days, all samples showed signs of degradation, where the best results were obtained in the compost at a depth of 20 cm (34 ± 4% mass loss and a decrease in tensile strength of 77.3%, which indicates that the material lost mechanical properties). TPS was the fastest disappearing component and promoted the degradation of the composite material as it disappeared. Finally, the aqueous media presented the lowest degradation results, losing only 20% of its initial mass after 90 days of the experiment, being the least effective environment in which the biocomposite can end up.
RESUMO
We documented two stages of bone involvement due to syphilis in two adult patients infected with human immunodeficiency virus. Bony lesions of secondary versus tertiary syphilis cannot be differentiated on clinical or radiologic grounds alone. Given the rarity of this clinical presentation, there is no consensus on treatment duration and related outcomes.
Se describen dos etapas de compromiso óseo por sífilis en dos pacientes adultos infectados por el virus de la inmunodeficiencia humana. Las lesiones óseas de la sífilis secundaria y de la sífilis terciaria no se pueden diferenciar únicamente por características clínicas o radiológicas. Dada la rareza de esta presentación clínica, no hay consenso sobre la duración del tratamiento y los resultados relacionados.
Assuntos
Doenças Ósseas , Sífilis , Adulto , Humanos , Sífilis/complicações , Sífilis/diagnóstico , ConsensoRESUMO
We documented two stages of bone involvement due to syphilis in two adult patients infected with human immunodeficiency virus. Bony lesions of secondary versus tertiary syphilis cannot be differentiated on clinical or radiologic grounds alone. Given the rarity of this clinical presentation, there is no consensus on treatment duration and related outcomes.
Se describen dos etapas de compromiso óseo por sífilis en dos pacientes adultos infectados por el virus de la inmunodeficiencia humana. Las lesiones óseas de la sífilis secundaria y de la sífilis terciaria no se pueden diferenciar únicamente por características clínicas o radiológicas. Dada la rareza de esta presentación clínica, no hay consenso sobre la duración del tratamiento y los resultados relacionados.
Assuntos
Osso e Ossos , Sífilis , Neoplasias Ósseas , HIV , NeurossífilisRESUMO
PURPOSE: Exposure to ionizing radiation, especially during childhood, is a well-established risk factor for thyroid cancer. The vast majority of radiation-induced cancers are papillary carcinomas (PTCs). These tumors typically have gene fusions in contrast to point mutations prevalent in sporadic PTCs. The aim of this study was to investigate the molecular profiles of PTC patients with workplace exposure to ionizing radiation. METHODS: A retrospective review of 543 patients who underwent surgery with diagnosis of PTC was performed. A cohort of nine healthcare specialists previously exposed to radiation sources during their professional practice was selected and analyzed using the ThyroSeq mutation panel for point mutations and gene fusions associated with thyroid cancer. RESULTS: The molecular analysis of surgical samples of PTCs was informative and revealed genetic alterations in five patients. BRAF V600E was found in four (67%) cases whereas RET/PTC1 fusion in one (17%) and one sample (17%) was wild type for point mutations and fusions. One sample completely failed molecular analysis while two others were negative for genes fusions but failed DNA analysis; these three samples were excluded. CONCLUSIONS: In this limited cohort of healthcare workers exposed to low dose of ionizing radiation at the workplace and developed PTC, the molecular profiling determined BRAF V600E point mutation as the most common event, arguing against the role of workplace radiation exposure in the etiology of these tumors.
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Carcinoma Papilar , Neoplasias da Glândula Tireoide , Carcinoma Papilar/patologia , Pessoal de Saúde , Humanos , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Câncer Papilífero da Tireoide/genética , Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/etiologia , Neoplasias da Glândula Tireoide/genética , Local de TrabalhoRESUMO
BACKGROUND: The BRCA1 c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluate BRCA1 c.3331_3334delCAAG haplotype diversity in cases of European, African, and Latin American ancestry. METHODS: BC mutation carrier cases from Colombia (n = 32), Spain (n = 13), Portugal (n = 2), Chile (n = 10), Africa (n = 1), and Brazil (n = 2) were genotyped with the genome-wide single nucleotide polymorphism (SNP) arrays to evaluate haplotype diversity around BRCA1 c.3331_3334delCAAG. Additional Portuguese (n = 13) and Brazilian (n = 18) BC mutation carriers were genotyped for 15 informative SNPs surrounding BRCA1. Data were phased using SHAPEIT2, and identical by descent regions were determined using BEAGLE and GERMLINE. DMLE+ was used to date the mutation in Colombia and Iberia. RESULTS: The haplotype reconstruction revealed a shared 264.4-kb region among carriers from all six countries. The estimated mutation age was ~ 100 generations in Iberia and that it was introduced to South America early during the European colonization period. CONCLUSIONS: Our results suggest that this mutation originated in Iberia and later introduced to Colombia and South America at the time of Spanish colonization during the early 1500s. We also found that the Colombian mutation carriers had higher European ancestry, at the BRCA1 gene harboring chromosome 17, than controls, which further supported the European origin of the mutation. Understanding founder mutations in diverse populations has implications in implementing cost-effective, ancestry-informed screening.
Assuntos
Proteína BRCA1/genética , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Haplótipos , Polimorfismo de Nucleotídeo Único , África/epidemiologia , Brasil/epidemiologia , Chile/epidemiologia , Cromossomos Humanos Par 17/genética , Colômbia/epidemiologia , Feminino , Efeito Fundador , Estudo de Associação Genômica Ampla/métodos , Humanos , Portugal/epidemiologia , Espanha/epidemiologiaRESUMO
INTRODUCTION: Toxoplasma gondii infections have been reported for many warm-blooded animals around the world including chiropterans. However, in Colombia, the country that holds the highest taxonomic richness of this order of mammals in the Neotropics, up to date there are no reports of T. gondii in bats (Carollia brevicauda). PURPOSE: The objective of the present study was to detect T. gondii DNA from internal bat organs from Quindío, Colombia. RESULTS: We report the first detection of T. gondii DNA from internal bat organs in the department of Quindio, Central Andes of Colombia. Out of three silky short tail bat (Carollia brevicauda) specimens collected at the natural reserve "La Montaña del Ocaso", organs were recovered (lungs, liver, heart, kidneys, small and large intestine) and tested for T. gondii through PCR for B1 sequence, with 1/3 (33.3%) positive result for the presence of T. gondii DNA in bat kidney tissues. CONCLUSION: Taking into consideration the high diversity of bat species in Colombia, and the complexity of the ecological and functional relationships that these organisms establish in the ecosystems they inhabit, we discuss on the urgent need for more detailed research and surveys for Toxoplansma in bats and other mammalian wild species.
Assuntos
Quirópteros , Toxoplasma , Toxoplasmose Animal , Animais , Colômbia/epidemiologia , DNA de Protozoário/genética , Ecossistema , Toxoplasma/genética , Toxoplasmose Animal/epidemiologiaRESUMO
The high prevalence of Toxoplasma gondii in the human population in Colombia has been linked to the existence of a high density of urban stray cats, exposing the whole population to a high density of oocysts. The goal of this study was to determine the DNA prevalence of T. gondii by conventional PCR and to phylogenetically analyze ROP18 sequences from positive samples in domestic cat (Felis catus) fecal samples in the city of Armenia, Quindío. Fecal samples from 140 cats were collected from 10 districts around the city. Samples were concentrated using Ritchie's method and analyzed through optical microscopy. Concentrates were used for DNA extraction followed by nested PCR amplification for T. gondii gene B1. PCR for ROP18 was performed on all B1 positive samples; the ROP18 sequences obtained were related to the Archetype I Brazilian and Chinese strains. No oocysts were detected by optical microscopy; however, 17.8% (25/140) B1 and 24% (6/25) ROP18 PCR-positive samples were detected. Phylogenetic analyses showed that isolates clustered into a single group. We assessed whether associations existed between T. gondii positive fecal samples and survey variables such as cat healthcare and socioeconomic characteristics of owners, but no statistically significant associations were found. The presence of T. gondii in cat feces is an important factor contributing to the high prevalence in the human population of this city.
TITLE: Détection d'ADN et génotypes de Toxoplasma gondii dans les fèces de chats domestiques en Colombie. ABSTRACT: La forte prévalence de Toxoplasma gondii dans la population humaine en Colombie a été liée à l'existence d'une forte densité de chats errants urbains, exposant l'ensemble de la population à une forte densité d'oocystes. Le but de ce travail était de déterminer la prévalence de l'ADN de T. gondii par PCR conventionnelle et d'analyser phylogénétiquement les séquences ROP18 d'échantillons positifs dans des échantillons fécaux de chat domestique (Felis catus) dans la ville d'Armenia, Quindío. Des échantillons fécaux de 140 chats ont été collectés dans 10 districts de la ville. Les échantillons ont été concentrés en utilisant la méthode de Ritchie et analysés par microscopie optique. Des concentrés ont été utilisés pour l'extraction d'ADN suivie d'une amplification par PCR nichée pour le gène B1 de T. gondii. La PCR pour ROP18 a été réalisée sur tous les échantillons positifs pour B1 ; les séquences ROP18 obtenues étaient apparentées aux souches Archétype I brésiliennes et chinoises. Aucun oocyste n'a été détecté par microscopie optique mais les échantillons étaient positifs par PCR pour 17,8 % (25/140) pour B1 et 24 % (6/25) pour ROP18. Les analyses phylogénétiques ont montré que les isolats formaient un seul groupe. Nous avons évalué s'il existait des associations entre des échantillons fécaux positifs à T. gondii et des variables d'enquête telles que les soins de santé des chats et les caractéristiques socioéconomiques des propriétaires, mais aucune association statistiquement significative n'a été trouvée. La présence de T. gondii dans les excréments de chats est un facteur important contribuant à la forte prévalence dans la population humaine de cette ville.
Assuntos
Doenças do Gato/epidemiologia , Gatos/parasitologia , DNA de Protozoário/genética , Toxoplasma/genética , Toxoplasmose Animal/epidemiologia , Animais , Doenças do Gato/parasitologia , Colômbia/epidemiologia , DNA de Protozoário/isolamento & purificação , Fezes/parasitologia , Feminino , Genótipo , Masculino , Oocistos/genética , Oocistos/fisiologia , Animais de Estimação/parasitologia , Filogenia , Prevalência , Proteínas Serina-Treonina Quinases/genética , Proteínas de Protozoários , Toxoplasma/isolamento & purificaçãoRESUMO
Women of Latin American origin in the United States are more likely to be diagnosed with advanced breast cancer and have a higher risk of mortality than non-Hispanic White women. Studies in U.S. Latinas and Latin American women have reported a high incidence of HER2 positive (+) tumors; however, the factors contributing to this observation are unknown. Genome-wide genotype data for 1,312 patients from the Peruvian Genetics and Genomics of Breast Cancer Study (PEGEN-BC) were used to estimate genetic ancestry. We tested the association between HER2 status and genetic ancestry using logistic and multinomial logistic regression models. Findings were replicated in 616 samples from Mexico and Colombia. Average Indigenous American (IA) ancestry differed by subtype. In multivariate models, the odds of having an HER2+ tumor increased by a factor of 1.20 with every 10% increase in IA ancestry proportion (95% CI, 1.07-1.35; P = 0.001). The association between HER2 status and IA ancestry was independently replicated in samples from Mexico and Colombia. Results suggest that the high prevalence of HER2+ tumors in Latinas could be due in part to the presence of population-specific genetic variant(s) affecting HER2 expression in breast cancer. SIGNIFICANCE: The positive association between Indigenous American genetic ancestry and HER2+ breast cancer suggests that the high incidence of HER2+ subtypes in Latinas might be due to population and subtype-specific genetic risk variants.
Assuntos
Neoplasias da Mama/química , Neoplasias da Mama/etnologia , Hispânico ou Latino/genética , Receptor ErbB-2/análise , Adulto , Idoso , Povo Asiático/etnologia , Povo Asiático/estatística & dados numéricos , População Negra/etnologia , População Negra/estatística & dados numéricos , Neoplasias da Mama/genética , Colômbia/etnologia , Feminino , Humanos , Indígenas Norte-Americanos , Indígenas Sul-Americanos , América Latina/etnologia , Modelos Lineares , Modelos Logísticos , México/etnologia , Pessoa de Meia-Idade , Peru/etnologia , Receptor ErbB-2/genética , Receptores de Estrogênio/sangue , Receptores de Progesterona/sangue , Estados Unidos , População Branca/etnologia , População Branca/estatística & dados numéricos , Adulto JovemRESUMO
Introducción. La endometriosis de la pared abdominal se define como la presencia de tejido endometrial en cualquiera de las capas que componen la pared abdominal. Su incidencia es baja y se caracteriza por un diagnóstico tardío. Materiales y métodos. Se trata de un estudio descriptivo y retrospectivo entre 2010 y 2014 en pacientes con endometriosis de la pared abdominal, cuyo análisis patológico fue realizado en un centro de ayudas diagnósticas de Medellín. Se identificaron las variables histopatológicas del reporte, y la información clínica mediante una entrevista telefónica suministrada por la paciente. Se analizaron los datos con medidas descriptivas de resumen. Resultados. Participaron 21 de 65 pacientes con diagnóstico de endometriosis de la pared abdominal. La media de edad al momento del diagnóstico fue de 35,3 años (desviación estándar, DE=8), el 71,4 % tenía el antecedente de cesárea y, el 38,1 %, el de endometriosis pélvica. El 95,2 % de las pacientes manifestaron dolor, de las cuales el 50 % lo percibió como constante con agudización cíclica y, el 40 %, como cíclico; además, el 90,5 % manifestó sensación de masa. La mediana del tiempo desde la aparición de la lesión hasta el diagnóstico, fue de 24 meses (RIQ=6-60). Solo en cuatro pacientes se hizo el diagnóstico prequirúrgico. El tratamiento fue quirúrgico en todas las pacientes y ocho (38,1 %) presentaron recidiva.Conclusiones. La endometriosis de la pared abdominal usualmente se manifiesta como masas dolorosas aso-ciadas con cicatrices quirúrgicas previas, generalmente de origen ginecológico y los síntomas empeoran con la menstruación. Es usual que su diagnóstico sea tardío y pocas veces se hace antes del estudio histopatológico. El tratamiento de elección es la resección quirúrgica, aunque no es despreciable el porcentaje de recidivas (AU)
Introduction: Abdominal wall endometriosis is defined by the presence of endometrial tissue in any of the layers that compose the abdominal wall. It has a low incidence and is characterized by a late diagnosis. Materials and Methods: A descriptive, ambispective study that included patients with abdominal wall endometriosis whose pathological analysis was performed in a diagnostic center in Medellín between 2010 and 2014. Histopathological variables of the report were identified, and clinical information was provided by the patient by a phone interview. They were analyzed with descriptive summary measures.Results: 21 patients with abdominal wall endometriosis of 65 identified participated. The mean age at diagnosis was 35.3 years ± 8, 71.4% had a prior caesarean section and 38.1% had pelvic endometriosis. 95.2% manifested pain, among them, 50% was perceived as constant with cyclical exacerbation, 40% cyclical; 90.5% manifested mass sensation. The median from the onset of the lesion to the diagnosis was 24 months (IQR 6-60). Only four patients had pre-surgical. The treatment was surgical in all patients and eight (38.1%) had recurrence.Conclusions: Abdominal wall endometriosis usually manifests through painful masses associated with previous surgical scars usually of gynecological origin and whose symptoms worsen with menstruation. Its diagnosis is usually late and it is rarely reached before the histopathological study. Management of choice is surgical resection, however, its percentage of recurrence is not negligible (AU)
Assuntos
Humanos , Endometriose , Procedimentos Cirúrgicos Operatórios , Umbigo , Parede AbdominalRESUMO
Rhinosporidiosis is a chronic granulomatous disease that affects mucosal surfaces. Its epidemiology and clinical presentation in Colombia are not well-known. We therefore reviewed all 58 reported cases between 1964 and 2015 to raise awareness among clinicians in a non-endemic area. Of the patients, 64% were male (median age = 15 years) and 57% had ocular and 43% nasal manifestations; there were no disseminated cases of the disease. All lesions were surgically removed.
Assuntos
Rinosporidiose/epidemiologia , Rhinosporidium/isolamento & purificação , Adolescente , Animais , Criança , Colômbia/epidemiologia , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
La 18F-FDG PET/TC tiene un papel importante en la evaluación de los tumores de la vaina nerviosa periférica, especialmente para determinar la posibilidad de malignidad y el sitio idóneo para la toma de biopsia. Se expone el caso de una mujer de 34 años de edad con diagnóstico de tumor de vaina nerviosa periférica, localizado en el mediastino posterior, que generó síndrome de vena cava superior y síndrome de Horner. Se realizó 18F-FDG PET/TC para hacer el diagnóstico diferencial entre benignidad y malignidad. Se encontró masa heterogénea con áreas hipermetabólicas que alcanzaban un SUVmax (valor de captación estándar máximo) de 8,5, hallazgos que sugerían origen maligno con diferentes grados de diferenciación. La biopsia de los lugares con mayor metabolismo arrojó el resultado de tumor maligno de vaina nerviosa periférica.
18F-FDG PET/CT is a useful imaging modality in the diagnosis and follow-up of peripheral nerve sheath tumors, especially in the assessment of tumor grade and biopsy guidance. The case of a 34-years-old woman diagnosed with peripheral nerve sheath tumor located in the posterior mediastinum that generated superior vena cava syndrome and Horner syndrome is presented. 18F-FDG PET/TC was performed to assess the possibility of malignancy. An 18F-FDG PET/CT was performed to determine whether it was benign or malignant, a heterogeneous mass with hypermetabolic areas with a maximum standardized uptake value (SUVmax) of 8.5 was found, and suggested malignancy with multiple grades of differentiation. A tumor biopsy from the region of higher metabolism was recommended with pathology result of malignant peripheral nerve sheath tumor.
Assuntos
Humanos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Nervos Espinhais , NeurofibromatosesRESUMO
La llamada genéricamente «enfermedad de Peyronie¼ es un diagnóstico que incluye los estados de fibrosis peneana grave que comprometen la túnica albugínea, con o sin compromiso del tejido intracavernoso, pero cuyo concepto se queda corto para abarcar la amplia gama de otros tipos de fibrosis peneana que no afectan a dicha túnica, relacionados o no con trauma La llamada genéricamente «enfermedad de Peyronie¼ es un diagnóstico que incluye los estados de fibrosis peneana grave que comprometen la túnica albugínea, con o sin compromiso del tejido intracavernoso, pero cuyo concepto se queda corto para abarcar la amplia gama de otros tipos de fibrosis peneana que no afectan a dicha túnica, relacionados o no con trauma
The generically called "Peyronie's disease" is a diagnosis that includes states of severe penile fibrosis involving the albugineous tunic, with or without intracavernous tissue involvement, but whose concept falls short of covering the wide range of other types of penile fibrosis that do not affect that tunic, The generically called "Peyronie's disease" is a diagnosis that includes states of severe penile fibrosis involving the albuginea tunic, with or without intracavernous tissue involvement, but whose concept falls short of covering the wide range of other types of penile fibrosis that do not affect that tunic, whether or not related to trauma.
Assuntos
Humanos , Disfunção Erétil , Induração Peniana , FibroseRESUMO
Colorectal cancer (CRC) is a major public health problem, and its incidence is rising in developing countries. However, studies characterizing CRC clinicopathological features in cases from developing countries are still lacking. The goal of this study was to evaluate clinicopathological and demographic features in one of the largest CRC studies in Latin America.The study involved over 1525 CRC cases recruited in a multicenter study in Colombia between 2005 and 2014 as part of ongoing genetic and epidemiological studies. We gathered clinicopathological data such as age at diagnosis, sex, body mass index, tobacco and alcohol consumption, family history of cancer, and tumor features including location, histological type, and stage. Statistical analyses were performed to test the association between age of onset, sex, and clinical manifestations.The average age at CRC diagnosis was 57.4 years, with 26.5% of cases having early-onset CRC (diagnosed by age 50 years). Most cases were women (53.2%; Pâ=â0.009), 49.2% were overweight or obese, 49.1% were regular alcohol drinkers, 52% were smokers/former smokers, and 12.2% reported relatives with cancer. Most tumors in the study were located in the rectum (42.7%), were adenocarcinomas (91.5%), and had advanced stage (T3-T4, 79.8%). Comparisons by sex found that male cases were more likely to be obese (36.5% vs 31.1%; Pâ=â0.001), less likely to have a family history of cancer (9.7% vs 15.3%; Pâ=â0.016), and more likely to have advanced-stage tumors (83.9% vs 76.1%; Pâ=â0.036). Comparisons by age of onset found that early-onset cases were more likely to be women (59.3% vs 51.0%; Pâ=â0.005) and report a family history of cancer (17.4% vs 10.2%; Pâ=â0.001).To our knowledge, our study is the largest report of clinicopathological characterization of Hispanic CRC cases, and we suggest that further studies are needed to understand CRC etiology in diverse Hispanic populations.
Assuntos
Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/fisiopatologia , Adenocarcinoma/patologia , Adulto , Fatores Etários , Idade de Início , Idoso , Consumo de Bebidas Alcoólicas/epidemiologia , Índice de Massa Corporal , Colômbia/epidemiologia , Neoplasias Colorretais/patologia , Feminino , Predisposição Genética para Doença , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores Sexuais , Fumar/epidemiologia , Adulto JovemRESUMO
Thyroid cancer (TC) is the second most common cancer among Hispanic women. Recent genome-wide association (GWA) and candidate studies identified 6 single nucleotide polymorphisms (SNPs; rs966423, rs2439302, rs965513, rs6983267, rs944289, and rs116909374), associated with increased TC risk in Europeans but their effects on disease risk have not been comprehensively tested in Hispanics. In this study, we aimed to describe the main clinicopathological manifestations and to evaluate the effects of known SNPs on TC risk and on clinicopathological manifestations in a Hispanic population.We analyzed 281 nonmedullary TC cases and 1146 cancer-free controls recruited in a multicenter population-based study in Colombia. SNPs were genotyped by Kompetitive allele specific polymerase chain reaction (KASP) technique. Association between genetic variants and TC risk was assessed by computing odds ratios (OR) and confidence intervals (CIs).Consistent with published data in U.S. Hispanics, our cases had a high prevalence of large tumors (>2âcm, 43%) and a high female/male ratio (5:1). We detected significant associations between TC risk and rs965513A (ORâ=â1.41), rs944289T (ORâ=â1.26), rs116909374A (ORâ=â1.96), rs2439302G (ORâ=â1.19), and rs6983267G (ORâ=â1.18). Cases carried more risk alleles than controls (5.16 vs. 4.78, Pâ=â4.8â×â10). Individuals with ≥6 risk alleles had >6-fold increased TC risk (ORâ=â6.33, Pâ=â4.0â×â10) compared to individuals with ≤2 risk alleles. rs944289T and rs116909374A were strongly associated with follicular histology (ORsâ=â1.61 and 3.33, respectively); rs2439302G with large tumors (ORâ=â1.50); and rs965513A with regional disease (ORâ=â1.92).To our knowledge, this is the first study of known TC risk variants in South American Hispanics and suggests that they increase TC susceptibility in this population and can identify patients at higher risk of severe disease.
Assuntos
Predisposição Genética para Doença/etnologia , Variação Genética , Hispânico ou Latino/genética , Neoplasias da Glândula Tireoide/etnologia , Neoplasias da Glândula Tireoide/genética , Adulto , Carcinoma/etnologia , Carcinoma/genética , Carcinoma/cirurgia , Carcinoma Papilar , Estudos de Coortes , Colômbia/epidemiologia , Feminino , Estudo de Associação Genômica Ampla , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Estudos Retrospectivos , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide/cirurgia , Estados Unidos/epidemiologiaRESUMO
Familial nonmedullary thyroid cancer (NMTC) has not been clearly linked to causal germline variants, despite the large role that genetic factors play in risk. Recently, HABP2 G534E (rs7080536A) has been implicated as a causal variant in NMTC. We have previously shown that the HABP2 G534E variant is not associated with TC risk in patients from the British Isles. Hispanics are the largest and the youngest minority in the United States and NMTC is now the second most common malignancy in women from this population. In order to determine if the HABP2 G534E variant played a role in NMTC risk among Hispanic populations, we analyzed 281 cases and 1105 population-matched controls from a multicenter study in Colombia, evaluating the association through logistic regression. We found that the HABP2 G534E variant was not significantly associated with NMTC risk (P=0.843) in this Hispanic group. We also stratified available clinical data by multiple available clinicopathological variables and further analyzed the effect of HABP2 on NMTC presentation. However, we failed to detect associations between HABP2 G534E and NMTC risk, regardless of disease presentation (P≥0.273 for all cases). Therefore, without any significant associations between the HABP2 G534E variant and NMTC risk, we conclude that the variant is not causal of NMTC in this Hispanic population.
RESUMO
The G allele of the rs6983267 single-nucleotide polymorphism, located on chromosome 8q24, has been associated with increased risk of several cancer types. The association between rs6983267G and thyroid cancer (TC) has been tested in different populations, mostly of European ancestry, and has led to inconclusive results. While significant associations have been reported in the British and Polish populations, no association has been detected in populations from Spain, Italy and the USA. To further investigate the role of rs6983267G in TC susceptibility, we evaluated rs6983267 genotypes in three populations of different continental ancestry (British Isles, Colombia and Japan), providing a total of 3067 cases and 8575 controls. We detected significant associations between rs6983267G and TC in the British Isles (odds ratio (OR)=1.19, 95% CI: 1.11-1.27, P=4.03×10(-7)), Japan (OR=1.20, 95% CI: 1.03-1.41, P=0.022) and a borderline significant association of similar effect direction and size in Colombia (OR=1.19, 95% CI: 0.99-1.44, P=0.069). A meta-analysis of our multi-ethnic study and previously published non-overlapping datasets, which included a total of 5484 cases and 12â594 controls, confirmed the association between rs6983267G and TC (P=1.23×10(-7), OR=1.13, 95% CI: 1.08-1.18). Our results therefore support the notion that rs6983267G is a bona fide TC risk variant that increases the risk of disease by â¼13%.
Assuntos
Cromossomos Humanos Par 8/genética , Loci Gênicos , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/genética , Estudos de Casos e Controles , Colômbia/epidemiologia , Humanos , Japão/epidemiologia , Metanálise como Assunto , Prognóstico , Fatores de Risco , Reino Unido/epidemiologiaRESUMO
Introducción: el nódulo tiroideo es un hallazgo común en la actualidad, cuya incidencia viene en aumento. El objetivo principal durante la evaluación es distinguir el nódulo benigno del maligno. Materiales y métodos: se hizo una revisión narrativa de la literatura mediante búsqueda en Ovid, Medline y Lilacs desde 1950 a 2010. Resultados: la mayoría de los nódulos tiroideos son benignos, solo 4% a 8% de los casos pueden ser malignos. Los nódulos mayores de un centímetro se deben estudiar mediante aspirado con aguja fina; sin embargo, se deben tener en cuenta las características clínicas del paciente y las características ecográficas del nódulo. Entre los factores de riesgo asociados a la presencia de nódulo están la edad por encima de 45 años, el sexo femenino y el tabaquismo. No se recomienda la medición de marcadores tumorales en el estudio de los pacientes con nódulo tiroideo. Conclusión: la ecografía de tiroides y el aspirado con aguja fina son los métodos diagnósticos más importantes en la evaluación del nódulo tiroideo y han permitido cambiar las conductas terapéuticas disminuyendo el número de tiroidectomías innecesarias. El tratamiento y el pronóstico dependen de los factores de riesgo y de los hallazgos citológicos y patológicos.
Introduction: Thyroid nodules are commonly found, and their incidence is increasing. The main objective during the evaluation of these nodules is to determine if they are benign or malignant. Materials and methods: We made a narrative review of the literature by searching Ovid, Medline and Lilacs from 1950 to 2010. Results: Most thyroid nodules are benign, but in 4% to 8% of cases they may be malignant, hence the importance of appropriate study and management. Nodules larger than 1 cm should undergo fine needle aspirate; however, the clinical features of the patient and the characteristics of the nodule on ultrasound assessment should always be taken into account. The following are risk factors associated with the presence of thyroid nodules: age over 45 years, female gender and smoking. The measurement of tumor markers in the initial study of patients with thyroid nodule is not recommended. Conclusion: Ultrasound and thyroid fine needle aspirate are the most important diagnostic methods in the evaluation of thyroid nodules, because they enable to make changes in therapeutic decisions thus decreasing the number of unnecessary thyroidectomies. Treatment and prognosis of thyroid nodules will depend on the patient's risk factors and the cytological and pathological findings.
Assuntos
Humanos , Nódulo da Glândula TireoideAssuntos
Mansonella/isolamento & purificação , Mansonelose/sangue , Parasitemia/sangue , Animais , Colômbia , Doxiciclina/uso terapêutico , Feminino , Filaricidas/uso terapêutico , Humanos , Ivermectina/uso terapêutico , Mansonelose/diagnóstico , Mansonelose/tratamento farmacológico , Mansonelose/parasitologia , Pessoa de Meia-Idade , Parasitemia/diagnóstico , Parasitemia/tratamento farmacológico , Parasitemia/parasitologiaRESUMO
Introducción. La sensibilidad de las pruebas convencionales (examen directo, cultivo) para el diagnóstico de la onicomicosis (25 a 80%), representa un problema para la decisión terapéutica del dermatólogo. Objetivo. Determinar la exactitud diagnóstica de la muestra de la lámina ungular en pacientes con diagnóstico clínico de onicomicosis. Metodología. Es un estudio prospectivo de pruebas diagnósticas en 50 pacientes con sospecha de onicomicosis. Se tomó muestra de la lámina ungular con cortaúñas estéril en el área de onicólisis para pruebas micológicas (KOHcultivo) y de histopatología (hematoxilina y eosina y ácido peryódico de Schiff), y muestra de detritos mediante raspado del lecho para prueba micológica. La toma de muestras y el procesamiento de las pruebas se realizaron en laboratorios de referencia y se interpretaron de manera ciega e independiente. La muestra de detritos se consideró la prueba estándar. Resultados. Se observó compromiso de los pies en 90% de los pacientes, 86,6% con afectación del primer dedo. La prueba micológica de detritos fue positiva en 80% de los casos, encontrándose estructuras micóticas en el examen directo en 72% y aislamiento al cultivo en 64%. En la lámina ungular, la sensibilidad fue de 87,5% y la especificidad de 80%; el cociente de probabilidades positivo fue 4,4. Cinco muestras positivas con la tinción PAS fueron negativas en la prueba estándar. La sensibilidad neta aumentó a 95% mediante el análisis de las pruebas en paralelo de la lámina ungular. La mayoría de los aislamientos fueron especies de Candida (77,3% en detritos y 75,9% en la lámina ungular), y C. parapsilosis fue el aislamiento más frecuente. Conclusión. Se propone la muestra de la lámina ungular para pruebas micológicas y tinción de PAS, como complemento a la muestra de detritos para el diagnóstico de onicomicosis.