RESUMO
Introduction. The first neonatal screening program in Colombia PREGEN was set up in the medical private sector of Bogotá in 1988. We report the results from recent years that, given the scarcity of similar information in our country, may help estimate the frequency of the evaluated neonatal disorders and which ones should be included in the neonatal screening programs in our country. Objective. To describe the results of PREGEN´s newborn screening program between 2006 and 2019. Materials and methods. We analyzed databases and other informative documents preserved in PREGEN from the 2006-2019 period. Results. One in every 164 newborns screened in our program had an abnormal hemoglobin variant, and one in every 194 carried some hemoglobin S variant. Glucose-6- phosphate dehydrogenase deficiency and congenital hypothyroidism are next as the more common disorders. Conclusions. Abnormal hemoglobin causes the most frequent monogenic disorder in the world. Glucose-6-phosphate dehydrogenase deficiency is the most common enzymopathy affecting nearly 400 million individuals worldwide. Since both disorders are more common in people of African descent and confer some resistance to malaria, we believe that screening for both disorders may be more relevant in the areas with African ancestry in our country.
Introducción. En Colombia, el primer programa de tamizaje neonatal, PREGEN, inició labores en el sector privado de Bogotá en 1988. En este artículo se presentan los resultados obtenidos en los últimos años, que, dada la carencia de estos estudios en el país, pueden servir para evaluar la frecuencia de aparición de los trastornos congénitos evaluados y estimar cuáles de ellos deben ser objeto de tamizaje neonatal a nivel nacional. Objetivos. Reportar los resultados del programa de tamizaje PREGEN entre el 2006 y el 2019. Materiales y métodos. Para este análisis se examinaron las bases de datos y otros documentos informativos de PREGEN para el periodo 2006-2019. Resultados. Uno de cada 164 recién nacidos tamizados en el programa PREGEN en Bogotá presentó una variante anormal de la hemoglobina y uno de cada 194 es portador de hemoglobina S. Los siguientes dos trastornos más frecuentes encontrados fueron la deficiencia de la enzima glucosa-6-fosfato deshidrogenasa (frecuencia 1:2.231) y el hipotiroidismo congénito (frecuencia 1:3.915). Conclusiones. Las hemoglobinopatías mostraron ser uno de los desórdenes monogénicos más comunes, seguidos por la deficiencia de glucosa-6-fosfato deshidrogenasa y el hipotiroidismo congénito. Se calcula que cerca de 400 millones de personas en el mundo están afectadas por la deficiencia de glucosa-6-fosfato deshidrogenasa, por lo cual es la enzimopatía más común en el mundo. Como ambos desórdenes son más frecuentes en poblaciones de origen africano y confieren algún grado de resistencia a la malaria, es de prever que su tamizaje debe ser de mayor importancia en las zonas con ancestros africanos en Colombia.
Assuntos
Deficiência de Glucosefosfato Desidrogenase , Triagem Neonatal , Colômbia/epidemiologia , Humanos , Recém-Nascido , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/genética , Setor Privado , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/epidemiologia , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/epidemiologiaRESUMO
BACKGROUND: Colombia has a mestizo population and the prevalence of haemoglobin variants varies according to each region, but heterozygous carriers can be found in all of them. AIM: To characterise sickle cell disease (SCD) haematologically, biochemically, and molecularly, and detect classic haplotypes by DNA sequencing in a group of samples from Bolívar, Colombia. SUBJECTS AND METHODS: Blood samples were collected after informed consent from volunteers from eight communities in the Bolívar department, plus samples from the Pacific region, Providencia Island, and Bogotá were included. Data were obtained from: (1) haematological analyses; (2) biochemical tests: dHPLC was used to determine haemoglobin (Hb); and (3) DNA sequencing data through five SNPs. RESULTS: 101 samples were identified by rs334 through Sanger's Sequencing, structural haemoglobinopathies HbAS (34.65%), HbSS (2.97%) and HbAC (1.98%) were found. When contrasting the Hb identification results between SNP rs334 Vs. dHPLC/Isoelectric Focusing (IEF), a coincidence was found in 39/43 samples analysed, therefore, when comparing these techniques, a significant correlation was found (Pearson's correlation coefficient r = 0.998). 26 samples previously analysed by rs334 were classified into classical haplotypes CAR (50.0%), BEN (30.76%), CAM (7.69%), SEN (3.84%), and ATP-I (7.69%). CONCLUSIONS: SCD characterisation and SNPs-based classification through Sanger's DNA sequencing have not been performed before in Colombia. The results of this work will make it possible to expand the data or records of carriers and those affected, which will benefit patients and their families.
Assuntos
Anemia Falciforme , Polimorfismo de Nucleotídeo Único , Humanos , Haplótipos , Colômbia , Globinas beta/genética , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Anemia Falciforme/diagnósticoRESUMO
BACKGROUND: Latin American and Hispanic women are less likely to develop breast cancer (BC) than women of European descent. Observational studies have found an inverse relationship between the individual proportion of Native American ancestry and BC risk. Here, we use ancestry-informative markers to rule out potential confounding of this relationship, estimating the confounder-free effect of Native American ancestry on BC risk. METHODS AND STUDY POPULATION: We used the informativeness for assignment measure to select robust instrumental variables for the individual proportion of Native American ancestry. We then conducted separate Mendelian randomization (MR) analyses based on 1401 Colombian women, most of them from the central Andean regions of Cundinamarca and Huila, and 1366 Mexican women from Mexico City, Monterrey and Veracruz, supplemented by sensitivity and stratified analyses. RESULTS: The proportion of Colombian Native American ancestry showed a putatively causal protective effect on BC risk (inverse variance-weighted odds ratio [OR] = 0.974 per 1% increase in ancestry proportion, 95% confidence interval [CI] 0.970-0.978, p = 3.1 × 10-40). The corresponding OR for Mexican Native American ancestry was 0.988 (95% CI 0.987-0.990, p = 1.4 × 10-44). Stratified analyses revealed a stronger association between Native American ancestry and familial BC (Colombian women: OR = 0.958, 95% CI 0.952-0.964; Mexican women: OR = 0.973, 95% CI 0.969-0.978), and stronger protective effects on oestrogen receptor (ER)-positive BC than on ER-negative and triple-negative BC. CONCLUSIONS: The present results point to an unconfounded protective effect of Native American ancestry on BC risk in both Colombian and Mexican women which appears to be stronger for familial and ER-positive BC. These findings provide a rationale for personalised prevention programmes that take genetic ancestry into account, as well as for future admixture mapping studies.
Assuntos
Indígena Americano ou Nativo do Alasca , Neoplasias da Mama , Feminino , Humanos , Indígena Americano ou Nativo do Alasca/etnologia , Indígena Americano ou Nativo do Alasca/genética , Indígena Americano ou Nativo do Alasca/estatística & dados numéricos , Mama , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/etnologia , Neoplasias da Mama/genética , Colômbia/epidemiologia , México/epidemiologia , Neoplasias de Mama Triplo Negativas/epidemiologia , Neoplasias de Mama Triplo Negativas/etnologia , Neoplasias de Mama Triplo Negativas/genéticaRESUMO
Abstract Objective The present study assesses the results of a minimally invasive surgical technique for acute and chronic ankle instability management. Methods The present case series study retrospectively evaluated 40 patients undergoing arthroscopic-assisted percutaneous ankle ligament reconstruction from 2013 to 2019. Results The present study included 17 males and 23 females with an average age of 38.3 years old. Postintervention follow-up using American Orthopaedic Foot and Ankle Society (AOFAS) Ankle-Hindfoot scores identified improvement of > 30 points in function and pain control. The most frequently occurring associated injuries were osteochondral (35%). No patient required reintervention or had infection during follow-up. Conclusion The technique in the present study is easy and achieves satisfactory results for function and pain control. Level of Evidence IV.
Resumo Objetivo O presente estudo avalia os resultados de uma técnica cirúrgica minimamente invasiva para o manejo da instabilidade aguda e crônica do tornozelo. Métodos O presente estudo de uma série de casos avaliou retrospectivamente 40 pacientes submetidos à reconstrução percutânea assistida por artroscopia do ligamento do tornozelo entre 2013 e 2019. Resultados O estudo incluiu 17 homens e 23 mulheres com idade média de 38,3 anos. O acompanhamento pós-intervenção utilizou a pontuação American Orthopaedic Foot and Ankle Society (AOFAS, na sigla em inglês). As pontuações do tornozelo-retropé identificaram melhora > 30 pontos na função e no controle da dor. As lesões associadas mais frequentes foram as osteocondrais (35%). Nenhum paciente precisou de reintervenção ou teve infecção durante o acompanhamento. Conclusão A técnica do presente estudo é fácil e consegue resultados satisfatórios para a função e o controle da dor. Nível de Evidência IV.
Assuntos
Humanos , Masculino , Feminino , Adulto , Artroscopia/métodos , Articulação Talocalcânea , Instabilidade Articular/terapia , Ligamentos Articulares/fisiopatologia , Articulação do Tornozelo/cirurgiaRESUMO
Objetivo: el archivo histórico Cipriano Rodríguez Santa María de la Universidad de La Sabana cuenta con múltiples recetas médicas empleadas por médicos y boticarios en el Nuevo Reino de Granada. Una de ellas prescribe el cacao para disminuir síntomas generados por afecciones del sistema respiratorio. Objetivos: describir el análisis de una receta médica empleada entre los siglos XVIII y XIX para el tratamiento del ahogo y describir la propiedad fitoterapéutica del cacao conocida gracias a la evidencia científica actual. Materiales y métodos: búsqueda documental en el Archivo Histórico Cipriano Rodríguez Santamaría de la Biblioteca Octavio Arizmendi Posada de la Universidad de La Sabana. Transcripción y análisis del documento denominado "Ahogo" y revisión de la literatura científica actual, así como de los textos originales, sin límite de tiempo. Resultados: la receta médica describe las características del cacao (Theobroma cacao) como agente fitoterapéutico con propiedades antiinflamatorias, analgésicas, antioxidantes e inmunomoduladoras aportadas por componentes como los ácidos oleico, esteárico, palmítico y flavonoides entre otros. La teobromina ejerce efectos broncodilatadores y antitusivosConclusiones: el legado histórico colonial conservado en los archivos locales permite comprender racionalmente las propiedades de los agentes herbarios empleados para enfermedades y síntomas asociados. Existe evidencia científica que respalda el uso del cacao para disminuir la sintomatología asociada con el ahogo. Pese a ello, la escasa o nula descripción de la posología y los efectos secundarios, dificulta analizar la eficacia de esta tradición. En consecuencia, no se puede establecer su eficacia científicamente.
Objetive: The Cipriano Rodríguez Santamaria Historical Archive at Universidad de La Sabana includes multiple medical prescriptions used by physicians and apothecaries in the New Kingdom of Granada. Among them, cocoa was prescribed to relieve symptoms generated by respiratory diseases. Objectives: to describe the analysis of a medical prescription used between the 18th and 19th centuries to treat shortness of breath ("ahogo") and to describe the phytotherapeutic properties of cocoa through current scientific evidence. Materials and Methods: a documentary search in the Cipriano Rodríguez Santamaria Historical Archive: Octavio Arizmendi Posada Library, Universidad de La Sabana. Transcription and analysis of the document named "ahogo" and review of the current scientific literature, as well as, of the original texts, with no time limit. Results: the medical prescription describes the characteristics of cocoa (Theobroma cacao) as a phytotherapeutic agent featuring anti-inflammatory, analgesic, antioxidant and immunomodulatory properties provided by components such as oleic, stearic, palmitic and flavonoid acids, among others. Theobromine exerts a bronchodilator and antitussive effect. Conclusions: the colonial historical legacy preserved in local archives allows a rational understanding of the properties of herbal agents as treatment for diseases and their symptoms. There is scientific evidence supporting the use of cocoa to reduce the symptoms associated with dyspnea. However, little or no description of dosage and side effects makes it difficult to analyze the efficacy of this tradition. Consequently, its efficacy cannot be scientifically established.
Assuntos
Dispneia , Prescrições , Sistema Respiratório , Cacau , História da MedicinaRESUMO
A collection of more than one hundred medical recipes from the late 18th century was donated by Presbyter Cipriano Rodríguez Santa María, institutional eponym of the collection at the Historical Archive "Octavio Arizmendi Posada" of the library of the Universidad de La Sabana in Colombia. These texts represent an important historical and medical legacy and they constitute an important basis for understanding the colonial and traditional therapeutics related to various diseases. In this article, we describe one of these recipes for the treatment of smallpox and measles as a contribution to the history of medicine in Colombia.
En el Archivo Histórico de la Biblioteca "Octavio Arizmendi Posada" de la Universidad de La Sabana, se encuentra una colección de más de un centenar de recetas médicas de finales del siglo XVIII donadas por el presbítero Cipriano Rodríguez Santa María, epónimo institucional del archivo. Estos textos son un legado histórico médico y un fundamento para comprender la terapéutica colonial y tradicional de diversas enfermedades. En este artículo, se describen algunas recetas para el tratamiento de la viruela y el sarampión, como aporte a la historia de la medicina en Colombia.
Assuntos
Sarampo/história , Medicina Tradicional/história , Prescrições/história , Varíola/história , Colômbia , História do Século XVIII , Humanos , Sarampo/terapia , Varíola/terapia , Água/administração & dosagemRESUMO
En el Archivo Histórico de la Biblioteca "Octavio Arizmendi Posada" de la Universidad de La Sabana, se encuentra una colección de más de un centenar de recetas médicas de finales del siglo XVIII donadas por el presbítero Cipriano Rodríguez Santa María, epónimo institucional del archivo. Estos textos son un legado histórico médico y un fundamento para comprender la terapéutica colonial y tradicional de diversas enfermedades. En este artículo, se describen algunas recetas para el tratamiento de la viruela y el sarampión, como aporte a la historia de la medicina en Colombia.
A collection of more than one hundred medical recipes from the late 18th century was donated by Presbyter Cipriano Rodríguez Santa María, institutional eponym of the collection at the Historical Archive "Octavio Arizmendi Posada" of the library of the Universidad de La Sabana in Colombia. These texts represent an important historical and medical legacy and they constitute an important basis for understanding the colonial and traditional therapeutics related to various diseases. In this article, we describe one of these recipes for the treatment of smallpox and measles as a contribution to the history of medicine in Colombia.
Assuntos
Varíola , Prescrições , Sarampo , Prontuários Médicos , História Natural , História da Medicina , Medicina TradicionalRESUMO
PURPOSE: Ubiquitin ligase genes can act as oncogenes or tumor suppressor genes. They play a role in various diseases, including development and progression of breast cancer; the objective of this study was to evaluate the association of common variants in the ductal-epithelium-associated RING chromosome 1 (DEAR1) gene with breast cancer risk in a sample of Colombian population. METHODS: We carried out a case-control study to investigate associations of variants in DEAR1 with breast cancer in women from Colombia. Single nucleotide polymorphisms (SNPs) rs584298, rs2927970, rs59983645, and rs599167 were genotyped in 1022 breast cancer cases and 1023 healthy controls using the iPLEX® and Kompetitive Allele Specific PCR (polymerase chain reaction) (KASP) method. The associations between SNPs and breast cancer were examined by conditional logistic regression. The associations between SNPs and epidemiological/histopathological variables were examined by multinomial logistic regression. RESULTS: Associations were found between tag SNPs and breast cancer adjusted for the epidemiological risk factors rs584298 genotypes AG and GG (P = .048 and P = .004, respectively). The analysis of the disease characteristics showed that SNP rs584298 (genotype AG) (P = .015) shows association with progesterone receptor (PR) status and (genotype AA) (P = .048) shows association with human epidermal growth factor receptor 2 (HER2) status. CONCLUSIONS: The SNP rs584298 in DEAR1 showed associations with breast cancer and the expression of HER2 receptor; when this receptor is amplified, the result is aggressive tumoral subtype and expression of PR receptor that is associated with high-proliferative tumor grade. Validation of this SNP is important to establish whether this variant or the tagged variant is the cause for the risk association showed.
RESUMO
Breast cancer is a group of multigenic diseases. It is the most common cancer diagnosed among women worldwide and is often treated with tamoxifen. Tamoxifen is catalysed by cytochrome P450 2D6 (CYP2D6), and inter-individual variations in the enzyme due to single nucleotide polymorphisms (SNPs) could alter enzyme activity. We evaluated SNPs in patients from Colombia in South America who were receiving tamoxifen treatment for breast cancer. Allelic diversity in the CYP2D6 gene was found in the studied population, with two patients displaying the poor-metaboliser phenotype. Molecular dynamics and trajectory analyses were performed for CYP2D6 from these two patients, comparing it with the common allelic form (CYP2D6*1). Although we found no significant structural change in the protein, its dynamics differ significantly from those of CYP2D6*1, the effect of such differential dynamics resulting in an inefficient enzyme with serious implications for tamoxifen-treated patients, increasing the risk of disease relapse and ineffective treatment.
Assuntos
Neoplasias da Mama/tratamento farmacológico , Carcinoma Ductal/tratamento farmacológico , Citocromo P-450 CYP2D6/genética , Tamoxifeno/administração & dosagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Antineoplásicos Hormonais/administração & dosagem , Antineoplásicos Hormonais/metabolismo , Neoplasias da Mama/genética , Neoplasias da Mama/metabolismo , Neoplasias da Mama/patologia , Carcinoma Ductal/genética , Carcinoma Ductal/metabolismo , Carcinoma Ductal/patologia , Quimioterapia Adjuvante , Citocromo P-450 CYP2D6/metabolismo , Feminino , Genótipo , Humanos , Inativação Metabólica/genética , Pessoa de Meia-Idade , Variantes Farmacogenômicos/genética , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Tamoxifeno/efeitos adversos , Tamoxifeno/metabolismoRESUMO
Latino women show lower incidences of breast cancer (BC) than non-Hispanic whites. Large-scale genetic association studies have identified variants robustly associated with BC risk in European women. We examine here the relevance of these variants to Colombian BC and possible interactions with genetic ancestry. Native American, European and African proportions were estimated for 1022 Colombian BC cases and 1023 controls. Logistic regression was applied to assess the association between 78 variants and BC risk and interactions between the variants and ancestry proportions. We constructed a multifactorial risk score combining established BC risk factors, associated risk variants and individual ancestry proportions. Each 1% increase in the Native American proportion translated into a 2.2% lower BC risk (95% CI: 1.4-2.9). Thirteen variants were associated with BC in Colombian women, with allele frequencies and risk effects partially different from European women. Ancestry proportions moderated the risk effects of two variants. The ability of Native American proportions to separate Colombian cases and controls (area-under-the-curve (AUC) = 0.61) was similar to the discriminative ability of family history of BC in first-degree female relatives (AUC = 0.58) or the combined effect of all 13 associated risk variants (AUC = 0.57). Our findings demonstrate ample potential for individualized BC prevention in Hispanic women taking advantage of individual Native American proportions, information on established susceptibility factors and recently identified common risk variants.