RESUMEN
Contemporary research on the genomics of Attention Deficit Hyperactivity Disorder (ADHD) often underrepresents admixed populations of diverse genomic ancestries, such as Latin Americans. This study explores the relationship between admixture and genetic associations for ADHD in Colombian and Mexican cohorts. Some 546 participants in two groups, ADHD and Control, were genotyped with Infinium PsychArray®. Global ancestry levels were estimated using overall admixture proportions and principal component analysis, while local ancestry was determined using a method to estimate ancestral components along the genome. Genome-wide association analysis (GWAS) was conducted to identify significant associations. Differences between Colombia and Mexico were evaluated using appropriate statistical tests. 354 Single-nucleotide polymorphisms (SNPs) and Single-nucleotide variants (SNVs) related to some genes and intergenic regions exhibited suggestive significance (p-value < 5*10e-5) in the GWAS. None of the variants revealed genome-wide significance (p-value < 5*10e-8). The study identified a significant relationship between risk SNPs and the European component of admixture, notably observed in the LOC105379109 gene. Despite differences in risk association loci, such as FOXP2, our findings suggest a possible homogeneity in genetic variation's impact on ADHD between Colombian and Mexican populations. Current reference datasets for ADHD predominantly consist of samples with high European ancestry, underscoring the need for further research to enhance the representation of reference populations and improve the identification of ADHD risk traits in Latin Americans.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Predisposición Genética a la Enfermedad , Adolescente , Niño , Femenino , Humanos , Masculino , Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Estudios de Cohortes , Colombia/epidemiología , Estudio de Asociación del Genoma Completo , Genotipo , México/epidemiología , Polimorfismo de Nucleótido SimpleRESUMEN
Sickle cell anemia is a type of hemoglobinopathy characterized by a specific mutation in the beta globin gene with the consequent generation of an unstable hemoglobin that crystallizes in a state of hypoxia. This causes a change in the structure of the red blood cell, which ends up producing vaso-occlusion with the corresponding clinical complications for the patient. Worldwide, various diagnostic tests have been developed that allow the appropriate approach to the affected patient. These include techniques for the determination of hemoglobin and the use of molecular markers, among others. There are new therapeutic alternatives to the use of hydroxyurea and L-glutamine, such as the use of gene therapy tools. The most recent experimental trials are exploring gene editing techniques.
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Anemia de Células Falciformes , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/genética , Haplotipos , Humanos , Hidroxiurea/uso terapéutico , Hipoxia/tratamiento farmacológicoRESUMEN
BACKGROUND: Oxygen transport is altered in hemoglobinopathies. AIM: To study the distribution of hemoglobinopathies in Andean subjects without African ancestry. MATERIAL AND METHODS: We analyzed blood samples of 1,407 subjects aged 18 to 59 years (58% females), living in the central Andean region of Colombia, referred to discard hemoglobinopathies. The frequency and type of hemoglobinopathy was established by capillary and agarose gel electrophoresis. RESULTS: The frequency of hemoglobinopathies was 34.5% and higher among females. The structural variants found were: AS-heterozygous hemoglobin (8.1%), homozygous SS (3.7%), heterozygous SC (2.2%), AC heterozygotes (0.5%) and heterozygous AE (0.3%). Quantitative variants found were Hb A-Beta thalassemia (13.91%) and Hb H (0.06%), Beta-thalassemia heterozygotes C (0.88%), S-Beta thalassemia heterozygotes (6.07%) and compound heterozygous SC/Beta thalassemia (0.25%), with a persistence of fetal hemoglobin 0. Composite thalassemia was also found in 31%. All techniques showed good correlation and capillary electrophoresis demonstrated a greater detection of hemoglobin variants. CONCLUSIONS: The frequency of hemoglobin variants in the analyzed population was high, which is an important public health indicator. The most common hemoglobin variant was HbA/Increased structural Hb A2 and the mos frequent structural hemoglobinopathy was sickle cell trait. Capillary electrophoresis can discern any Hb variants present in the population.
Asunto(s)
Hemoglobinopatías/epidemiología , Hemoglobinas/análisis , Adulto , Colombia/epidemiología , Electroforesis en Gel de Agar , Electroforesis Capilar , Femenino , Hemoglobinopatías/clasificación , Hemoglobinopatías/diagnóstico , Hemoglobinopatías/etnología , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto JovenRESUMEN
Dysregulation of the morning cortisol response in young adults with attention deficit hyperactivity disorder (ADHD) has been shown to underlie several of the alterations present in their lives. Thus, the interaction of this mechanism with genetic and behavioural characteristics could explain a large proportion of the aetiology of ADHD in this population. For these reasons, the present study explores the associations of 30 single nucleotide polymorphisms (SNPs) previously identified as significant (after correction for multiple comparisons) in the aetiology of ADHD with an assessment of morning cortisol and impulsivity traits in a group of 120 adults aged 18-24 years. Participants were recruited through private centres of neuropsychology and psychiatry, as well as through events in local universities. Morning cortisol within 30 min of awakening and motor impulsivity traits were shown to moderate the effect of SNP rs10129500 on the severity of the symptoms of ADHD measured by the Adult Self-Report Scale. This variant associated with cortisol-binding globulin would explain the low concentrations of this hormone found in young adults with high symptoms of ADHD, which is accentuated when there are high levels of impulsivity. The proposed model allows for transferring the theoretical relationships between the dimensions that explain the aetiology of ADHD to an applied exploratory model with good performance.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Humanos , Adulto Joven , Trastorno por Déficit de Atención con Hiperactividad/genética , Hidrocortisona , Conducta Impulsiva/fisiología , Fenotipo , GenotipoRESUMEN
The analysis of mitochondrial DNA (mtDNA) hypervariable region (HVR) sequence data from ancient human remains provides valuable insights into the genetic structure and population dynamics of ancient populations. mtDNA is particularly useful in studying ancient populations, because it is maternally inherited and has a higher mutation rate compared to nuclear DNA. To determine the genetic structure of three Colombian pre-Hispanic populations and compare them with current populations, we determined the haplotypes from human bone remains by sequencing several mitochondrial DNA segments. A wide variety of mitochondrial polymorphisms were obtained from 33 samples. Our results support a high population heterogeneity among pre-Hispanic populations in Colombia.
Asunto(s)
ADN Mitocondrial , Variación Genética , Humanos , Colombia , ADN Mitocondrial/genética , ADN Mitocondrial/análisis , Variación Genética/genética , Haplotipos/genética , Indígenas Sudamericanos , Genética de PoblaciónRESUMEN
This article presents a comprehensive genetic study focused on pre-Hispanic individuals who inhabited the Aburrá Valley in Antioquia, Colombia, between the tenth and seventeenth centuries AD. Employing a genetic approach, the study analyzed maternal lineages using DNA samples obtained from skeletal remains. The results illuminate a remarkable degree of biological diversity within these populations and provide insights into their genetic connections with other ancient and indigenous groups across the American continent. The findings strongly support the widely accepted hypothesis that the migration of the first American settlers occurred through Beringia, a land bridge connecting Siberia to North America during the last Ice Age. Subsequently, these early settlers journeyed southward, crossing the North American ice cap. Of particular note, the study unveils the presence of ancestral lineages from Asian populations, which played a pivotal role in populating the Americas. The implications of these results extend beyond delineating migratory routes and settlement patterns of ancient populations. They also enrich our understanding of the genetic diversity inherent in indigenous populations of the region. By revealing the genetic heritage of pre-Hispanic individuals from the Aburrá Valley, this study offers valuable insights into the history of human migration and settlement in the Americas. Furthermore, it enhances our comprehension of the intricate genetic tapestry that characterizes indigenous communities in the area.
Asunto(s)
ADN Mitocondrial , Genética de Población , Humanos , ADN Mitocondrial/genética , Mitocondrias/genética , América del Norte , Migración HumanaRESUMEN
Host immune response and virulence factors are key to disease susceptibility. However, there are no known association studies of human leukocyte antigen (HLA) class I and II alleles with chikungunya virus (CHIKV) infection in the Latin American population. Here, we aimed to identify HLA alleles present in patients with CHIKV infection versus healthy controls as well as the allelic association with the clinical spectrum of the disease. We conducted a cross-sectional analysis of a community cohort and included patients aged 18 years and older with serologically confirmed CHIKV infection. HLA typing of HLA-A, HLA-B, and HLA-DRB1 alleles was performed. Two-by-two tables were used to establish associations between allele presence and clinical characteristics. Data from 65 patients with confirmed CHIKV infection were analyzed for HLA typing. CHIKV infection was significantly associated with the presence of HLA-A*68 [p = .005; odds ratio (OR): 8.90; 95% confidence interval (CI): 1.88-42.13], HLA-B*35 (p = .03; OR: 2.01; 95% CI: 1.06-3.86), HLA-DRB*01 (p <.001; OR: 5.70; 95% CI: 1.95-16.59), HLA-DRB1*04 (p <.001; OR: 7.37; 95% CI: 3.33-16.30), and HLA-DRB1*13 (p = .004; OR: 3.75; 95% CI: 1.50-9.39) alleles in patients versus healthy subjects. A statistically significant relationship was found between the presence of a rash on the face or abdomen and the presence of HLA-DRB1*04 (p = .028; OR: 3.2; 95% CI: 1.11-9.15 and p = .007; OR: 4.33; 95% CI: 1.45-12.88, respectively). Our study demonstrated that, in our cohort, HLA type I and type II alleles are associated with CHIKV infection, and an HLA type II allele is associated with dermatological symptoms. Further research is needed to establish a path for future investigation of genes outside the HLA system to improve knowledge of the pathophysiology of CHIKV infection and its host-pathogen interaction.
Asunto(s)
Fiebre Chikungunya , Predisposición Genética a la Enfermedad , Antígenos HLA-A , Antígenos HLA-B , Cadenas HLA-DRB1 , Alelos , Fiebre Chikungunya/genética , Estudios Transversales , Frecuencia de los Genes , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Cadenas HLA-DRB1/genética , HumanosRESUMEN
OBJECTIVE: To analyze a medical prescription from the 18th century in the New Kingdom of Granada, nowadays Colombia, used in the treatment of soft tissue injuries, specifically wounds and skin ulcers. METHOD: A documentary search was conducted in the Cipriano Rodríguez Santamaria Historical Archive of the Octavio Arizmendi Posada Library, at Universidad de La Sabana (Chía, Colombia), and a review of the literature available in electronic databases. RESULTS AND CONCLUSION: The colonial medical prescription mentions the benefits of lead acetate in poultice for inflammatory processes in general and skin alterations. However, its use is not recommended due to its potential cytotoxic effect at tissue level in various organs.
OBJETIVO: Analizar una receta médica del siglo XVIII en el Nuevo Reino de Granada, hoy República de Colombia, utilizada para el tratamiento de las lesiones de tejidos blandos, específicamente heridas y úlceras en la piel. MÉTODO: Se realizó una búsqueda documental en el Archivo Histórico Cipriano Rodríguez Santamaría de la Biblioteca Octavio Arizmendi Posada, en la Universidad de La Sabana (Chía, Colombia), y se hizo una revisión de la literatura disponible en bases de datos electrónicas. RESULTADOS Y CONCLUSIÓN: En la receta médica colonial se mencionan los beneficios del uso de lo que se interpreta como acetato de plomo en cataplasma para procesos inflamatorios en general y alteraciones de la piel. Sin embargo, en la actualidad se conoce su potencial efecto citotóxico tisular en diversos órganos.
Asunto(s)
Extractos Vegetales , Prescripciones , Humanos , Extractos Vegetales/uso terapéuticoRESUMEN
The 22q11.2 deletion syndrome (22q11.2DS) is present in approximately 5 to 8% of patients with cleft lip, palate, or both (CL/P) and 75 to 80% of patients with congenital heart disease (CHD). In a literature review, we consider this association of 22q11.2DS in pediatric patients with CL/P and CHD. Early diagnosis of 22q11.2DS in pediatric patients with CL/P and CHD helps to optimize a multidisciplinary treatment approach for 22q11DS. Early diagnosis, thereby, can improve quality of life for these patients and awareness of other potential clinical implications that may require attention throughout the patient's life.
RESUMEN
The human being, throughout history, has used plants to prevent and cure diseases. It is important to know that for a long time, the mechanism through which those plants worked was unknown, making herbal medicine a purely empirical science. Medical prescriptions in the 19th century in the Kingdom of Nueva Granada were considered a significant medical advance as a result of knowledge and medical practices in the old continent. Medical literature of the time achieved, despite the lack of studies, the development of new schemes with exact dosages and new therapeutic possibilities. The medical prescription presented in this article was used in the management of heart palpitations, a frequent symptom nowadays, described as thoracic and/or neck beating, underlying various cardiac and non-cardiac diseases. The recipe for the palpitations of the historical archive "Cipriano Rodríguez Santa María" is a mixture of herbal agents that, as reviewed in the medical literature, showed to have anti-inflammatory, anxiolytic, and antioxidant effects, among others, allowing a beneficial effect on cardiac palpitations. Due to the lack of information on the posology, safety in its use, contraindications, and possible adverse effects, its potential use should have been underestimated at that time for the control of palpitations or as phytochemical agents directed to treat diseases causing this symptom.
A lo largo de la historia, el ser humano ha utilizado plantas para prevenir, aliviar y curar enfermedades. Cabe destacar que durante mucho tiempo se desconoció el mecanismo por el cual su uso era beneficioso, lo que hacía de la fitoterapia una ciencia netamente empírica. Las recetas médicas eran consideradas un avance médico significativo, resultado de conocimientos y prácticas traídas desde el viejo continente. Pese a la carencia de estudios locales, la literatura médica de la época permitió utilizar la biodiversidad de América para el desarrollo, investigación y uso de nuevos esquemas fitoterapéuticos con dosificaciones establecidas e indicaciones de uso, incluso un lugar específico de dispensación, ampliando aún más las posibilidades terapéuticas. La receta médica que se expone en este artículo era empleada en el manejo de las palpitaciones cardiacas, síntoma frecuente aún en la actualidad, descrito como golpes en tórax y/o cuello, subyacente en diversas enfermedades cardiacas y no cardiacas. La receta para las palpitaciones del archivo histórico Cipriano Rodríguez Santa María es una mezcla de agentes herbarios que, al realizar una revisión en la literatura médica, evidencian efectos antiinflamatorios, ansiolíticos y antioxidantes entre otros, sustentando un posible efecto beneficioso en las palpitaciones cardiacas. Debido a la ausencia de información sobre la posología, seguridad en su uso, contraindicaciones y posibles efectos adversos, es subestimado su potencial uso en aquel entonces para el control de las palpitaciones o como unos agentes fitoquímicos dirigidos para tratar enfermedades causantes de dicho síntoma.
Asunto(s)
Arritmias Cardíacas/historia , Preparaciones de Plantas/historia , Plantas Medicinales/química , Arritmias Cardíacas/tratamiento farmacológico , Historia del Siglo XVIII , Historia del Siglo XIX , Humanos , Preparaciones de Plantas/farmacologíaRESUMEN
The human being, throughout history, has used plants to prevent and cure diseases. It is important to know that for a long time, the mechanism through which those plants worked was unknown, making herbal medicine a purely empirical science. Medical prescriptions in the 19th century in the Kingdom of Nueva Granada were considered a significant medical advance, as a result of knowledge and medical practices in the old continent. Medical literature of the time achieved, despite the lack of studies, the development of new schemes with exact dosages and new therapeutic possibilities. The medical prescription presented in this article was used in the management of heart palpitations, a frequent symptom nowadays, described as thoracic and/or neck beating, underlying various cardiac and non-cardiac diseases. The recipe for the palpitations of the historical archive "Cipriano Rodríguez Santa María" is a mixture of herbal agents that, as reviewed in the medical literature, showed to have anti-inflammatory, anxiolytic, and antioxidant effects, among others, allowing a beneficial effect on cardiac palpitations. Due to the lack of information on the posology, safety in its use, contraindications and possible adverse effects, its potential use should have been underestimated at that time for the control of palpitations or as phytochemical agents directed to treat diseases causing this symptom.
A lo largo de la historia, el ser humano ha utilizado plantas para prevenir, aliviar y curar enfermedades. Cabe destacar que durante mucho tiempo se desconoció el mecanismo por el cual su uso era beneficioso, lo que hacía de la fitoterapia una ciencia netamente empírica. Las recetas médicas eran consideradas un avance médico significativo, resultado de conocimientos y prácticas traídas desde el viejo continente. Pese a la carencia de estudios locales, la literatura médica de la época permitió utilizar la biodiversidad de América para el desarrollo, investigación y uso de nuevos esquemas fitoterapéuticos con dosificaciones establecidas e indicaciones de uso, incluso un lugar específico de dispensación, ampliando aún más las posibilidades terapéuticas. La receta médica que se expone en este artículo era empleada en el manejo de las palpitaciones cardiacas, síntoma frecuente aún en la actualidad, descrito como golpes en tórax y/o cuello, subyacente en diversas enfermedades cardiacas y no cardiacas. La receta para las palpitaciones del archivo histórico Cipriano Rodríguez Santa María es una mezcla de agentes herbarios que, al realizar una revisión en la literatura médica, evidencian efectos antiinflamatorios, ansiolíticos y antioxidantes entre otros, sustentando un posible efecto beneficioso en las palpitaciones cardiacas. Debido a la ausencia de información sobre la posología, seguridad en su uso, contraindicaciones y posibles efectos adversos, es subestimado su potencial uso en aquel entonces para el control de las palpitaciones o como unos agentes fitoquímicos dirigidos para tratar enfermedades causantes de dicho síntoma.
Asunto(s)
Arritmias Cardíacas/tratamiento farmacológico , Preparaciones de Plantas/historia , Plantas Medicinales/química , Arritmias Cardíacas/historia , Historia del Siglo XVIII , Historia del Siglo XIX , Humanos , Preparaciones de Plantas/administración & dosificación , Preparaciones de Plantas/farmacologíaRESUMEN
INTRODUCTION: The risk of developing breast and ovarian cancer is higher in families that carry mutations in BRCA1 or BRCA2 genes, and timely mutation detection is critical. OBJECTIVE: To identify the presence of mutations in the Colombian population and evaluate two testing strategies. METHODS: From a total universe of 853 individual blood samples referred for BRCA1 and BRCA2 typing, 256 cases were analyzed by complete direct sequencing of both genes in Myriad Genetics, and the remaining 597 cases were studied by partial sequencing based on founder mutations in a PCR test designed by ourselves ("Profile Colombia"). RESULTS: We found 107 patients carrying deleterious mutations in this group of patients, 69 (64.5%) located in BRCA1, and 38 (35.5%) in BRCA2. Overall, we detected 39 previously unreported mutations in Colombia (22 in BRCA1 and 17 in BRCA2) and only 4 out of the 6 previously reported founder mutations. Sixty four out of 597 patients (10.7%) studied by "Profile Colombia" showed mutations in BRCA1 or BRCA2, and 41/256 patients (16%) showed mutations by complete BRCA1-BRCA2 sequencing. CONCLUSIONS: The spectrum of 44 different mutations in Colombia as detected in our study is broader than the one previously reported for this country. "Profile Colombia" is a useful screening test to establish both founder and new mutations (detection rate of 10.7%) in cases with family history of breast cancer. Complete sequencing shows a detection rate of 16.0%, and should complement the study of the genetic basis of this disease.
INTRODUCCIÓN: El riesgo de desarrollar cáncer de mama y cáncer de ovario puede transmitirse en familias que porten mutaciones en los genes BRCA1 o BRCA2. La detección de estas mutaciones permite tomar decisiones oportunas en el ámbito de la medicina preventiva. OBJETIVO: Estudiar el espectro de mutaciones en la población colombiana y evaluar dos estrategias de detección. METODOS: Se incluyeron en total 853 pacientes con diagnóstico de cáncer de mama y con solicitud de análisis de los genes BRCA1 y BRCA2. Un total de 256 pruebas se analizaron mediante secuencia directa completa de estos genes en Myriad Genetics, y las restantes 597 se estudiaron mediante secuencia parcial basada en mutaciones fundadoras a través de la prueba "Perfil Colombia", implementada por nosotros. RESULTADOS: Se detectaron 107 pacientes portadores de mutaciones en pacientes colombianos, 69 de las cuales estaban localizadas en BRCA1 y 38 en BRCA2. De estas 39 mutaciones son nuevas (22 en BRCA1 y 17 en BRCA2) y solo se hallaron 4 de las 6 mutaciones reportadas previamente como fundadoras en Colombia. En 64/597 pacientes analizados mediante el "Perfil Colombia" se detectaron mutaciones en BRCA1 o BRCA2, así como en 41/256 pacientes que solicitaron la secuenciación completa de los genes BRCA1 y BRCA2. CONCLUSIONES: El espectro de mutaciones fundadoras en Colombia es más amplio que el reportado anteriormente para este país. El "Perfil Colombia" es una prueba que revela a la vez mutaciones fundadoras y mutaciones nuevas, con una tasa de detección del 10.7%. La secuenciación completa presenta una tasa de detección del 16.0% y puede complementar el diagnóstico de la base genética de esta enfermedad.
Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/genética , Colombia , Femenino , Humanos , Tamizaje Masivo/métodos , Mutación , Análisis de Secuencia de ADNRESUMEN
Resumen: Introducción: Manuscritos médicos neogranadinos permitieron la divulgación y conservación de conocimientos y prácticas médicas entre los siglos XVIII y XIX, estos escritos están basados en la administración de agentes medicinales, usados con el fin de atenuar síntomas generados por múltiples enfermedades. Objetivo: Contextualizar el manejo del dolor durante el período colonial a través de una receta médica de la época. Simultáneamente, exponer las posibles bases científicas que expliquen su utilidad. Material y métodos: Búsqueda documental en el archivo histórico de la biblioteca Octavio Arizmendi Posada de la Universidad de La Sabana, donde se encontró la receta médica titulada «Reumas, gota y herpes¼. Resultados: La medicina durante el siglo XVI y XIX en el Virreinato de la Nueva Granada moduló el dolor a través de la aplicación de calor local en la infección por virus del herpes simple siendo efectivo en la reducción de los síntomas. La eficacia de la termoterapia en el alivio del dolor en enfermedades reumatológicas es controversial. Conclusiones: Los manuscritos médicos permiten viajar al pasado para entender las prácticas médicas de nuestros predecesores. En la actualidad, existe evidencia científica que respalda la efectividad de la aplicación de calor local en el manejo del dolor herpético y reumatológico.
Abstract: Introduction: New Granada medical manuscripts allowed the dissemination and preservation of medical knowledge and practices between the 18th and 19th centuries, these writings are based on the administration of medicinal agents made of plant, animal, mineral, used to attenuate symptoms generated by multiple diseases. Objective: To contextualize pain management during the colonial period through a medical prescription of the time. Simultaneously, expose the possible scientific bases that explain its usefulness. Material and methods: Documentary search in the historical archive of the Octavio Arizmendi Posada library of the University of La Sabana, where the medical prescription entitled «Reumas, gota y herpes¼ was found. Results: Medicine during the 16th and 19th centuries in the Viceroyalty of New Granada modulated pain through thermotherapy in herpes simplex virus infection, being effective in reducing pain, inflammation and itching. The efficacy of thermotherapy in relieving pain in rheumatological diseases is controversial. Conclusions: Medical manuscripts allow us to travel to the past to understand the medical practices of our predecessors. There is currently scientific evidence supporting the effectiveness of thermotherapy in the management of herpetic and rheumatological pain.
RESUMEN
Sickle cell anemia is a type of hemoglobinopathy characterized by a specific mutation in the beta globin gene with the consequent generation of an unstable hemoglobin that crystallizes in a state of hypoxia. This causes a change in the structure of the red blood cell, which ends up producing vaso-occlusion with the corresponding clinical complications for the patient. Worldwide, various diagnostic tests have been developed that allow the appropriate approach to the affected patient. These include techniques for the determination of hemoglobin and the use of molecular markers, among others. There are new therapeutic alternatives to the use of hydroxyurea and L-glutamine, such as the use of gene therapy tools. The most recent experimental trials are exploring gene editing techniques.
Asunto(s)
Humanos , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/genética , Haplotipos , Hidroxiurea/uso terapéutico , Hipoxia/tratamiento farmacológicoRESUMEN
RESUMEN Objetivo: Contextualizar una receta médica de comienzos del siglo XIX en el Nuevo Reino de Granada, en la cual se prescribe el guaco para disminuir síntomas generados por afecciones del sistema músculo-esquelético. De igual forma, analizar, en función de los conocimientos actuales, cómo actúa la fórmula sobre mecanismos fisiopatológicos de la enfermedad, explicando la reducción del dolor y las secuelas asociadas. Material y método: Búsqueda documental en el Archivo Histórico Cipriano Rodríguez Santamaría, de la Biblioteca Octavio Arizmendi Posada, de la Universidad de La Sabana. Se analizó el documento denominado Reumatismo. Posteriormente se realizó una revisión de la literatura entre 1999-2018, en las bases de datos ScienceDirect/ClinicalKey/Scielo. Conclusiones: Existe evidencia científica que podría explicar la efectividad del guaco, usado en el Nuevo Reino de Granada por sus propiedades antiinflamatorias y analgésicas aportadas por componentes como la cumarina y los flavonoides. Sin embargo, una descripción vaga en la posología del guaco, signos, síntomas y comorbilidades que no se mencionan en la receta, dificulta analizar la eficacia del tratamiento y cómo lograba disminuir o controlar específicamente los síntomas dados por afecciones del sistema musculoesquelético con su aplicación. Esta tradición, en consecuencia, carece de sustento propiamente científico para el tratamiento médico de enfermedades osteomusculares.
ABSTRACT Objective: To contextualize a medical prescription of the early 19th century in the New Kingdom of Granada, in which guaco was prescribed to reduce symptoms caused by musculoskeletal system disorders, which were ill-defined at the time. Similarly, based on current knowledge, to analyse the manner in which the formula acts on pathophysiological mechanisms of rheumatic diseases, in order to explain the reduction of pain, and associated sequelae. Material and method: Documentary research into the Cipriano Rodríguez Santamaría Historical Archive of the Octavio Arizmendi Library of the University of La Sabana, in Chía, Colombia. The document analysed was called Rheumatism. Subsequently, a review of the literature was carried out in Science Direct / Clinical Key / Scielo databases in the period from 1999 to 2018. Conclusions: There is scientific evidence that supports the efficiency of guaco used in the Kingdom of New Granada due its anti-inflammatory and analgesic properties. However, a vague description of the dosage of the guaco, signs, symptoms, and comorbidities, which are not mentioned in the prescription, hinders the understanding of its application and the thorough effectiveness of the treatment in order to control the symptoms of musculoskeletal system conditions. This tradition, consequently, lacks proper scientific support for the medical treatment of musculoskeletal disorders.
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Humanos , Enfermedades Reumáticas , Mikania , Sistema Musculoesquelético , Terapéutica , ConocimientoRESUMEN
OBJECTIVES: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases. METHODS: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. RESULTS: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. CONCLUSIONS: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out.
OBJETIVOS: Presentar la epidemiología descriptiva en torno a las Fisuras Orofaciales y determinar asociaciones entre Fisuras Orofaciales sindromica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades en una población Colombiana. MÉTODOS: Se planteó un estudio de serie de casos anidado estratificado. Se calcularon frecuencias en relación al tipo de fisura desde el punto de vista anatómico, anomalías congénitas paralelas, morbilidades y forma clínica. Se analizó la distribución de las Fisuras Orofaciales de acuerdo al género y lateralidad. Se determinaron razones de disparidad entre la forma sindrómica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades. Se evaluaron trecientos once pacientes que asistieron a la consulta de genética clinica durante un año. RESULTADOS: La Fisura Labio-palatina fue el tipo más frecuente en la muestra evaluada y la más frecuente en hombres. La Fisura Palatina fué la más frecuente en mujeres, la forma clínica más común fue la no sindrómica. En la población sindrómica el Síndrome de Aarskog-Scott mostró la frecuencia más alta. Los trastornos Hipertensivos de Embarazo, la Displasia del Desarrollo de la Cadera, las enfermedades respiratorias y del sistema nervioso central mostraron una asociación estadísticamente significativa con la forma sindrómica. (p <0.05). CONCLUSIONES: Estos datos ofrecen una referencia epidemiológica descriptiva de las Fisuras Orofaciales en Colombia. Las asociaciones encontradas entre los aspectos clínicos estudiados y la forma sindrómica, deben ser investigadas en próximos estudios con el fin de determinar relaciones de causalidad.
Asunto(s)
Labio Leporino/epidemiología , Fisura del Paladar/epidemiología , Adolescente , Adulto , Distribución por Edad , Niño , Preescolar , Colombia/epidemiología , Enanismo/epidemiología , Cara/anomalías , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/epidemiología , Genitales Masculinos/anomalías , Deformidades Congénitas de la Mano/epidemiología , Cardiopatías Congénitas/epidemiología , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Distribución por Sexo , SíndromeRESUMEN
Abstract The human being, throughout history, has used plants to prevent and cure diseases. It is important to know that for a long time, the mechanism through which those plants worked was unknown, making herbal medicine a purely empirical science. Medical prescriptions in the 19th century in the Kingdom of Nueva Granada were considered a significant medical advance as a result of knowledge and medical practices in the old continent. Medical literature of the time achieved, despite the lack of studies, the development of new schemes with exact dosages and new therapeutic possibilities. The medical prescription presented in this article was used in the management of heart palpitations, a frequent symptom nowadays, described as thoracic and/or neck beating, underlying various cardiac and non-cardiac diseases. The recipe for the palpitations of the historical archive "Cipriano Rodríguez Santa María" is a mixture of herbal agents that, as reviewed in the medical literature, showed to have anti-inflammatory, anxiolytic, and antioxidant effects, among others, allowing a beneficial effect on cardiac palpitations. Due to the lack of information on the posology, safety in its use, contraindications, and possible adverse effects, its potential use should have been underestimated at that time for the control of palpitations or as phytochemical agents directed to treat diseases causing this symptom.
Resumen A lo largo de la historia, el ser humano ha utilizado plantas para prevenir, aliviar y curar enfermedades. Cabe destacar que durante mucho tiempo se desconoció el mecanismo por el cual su uso era beneficioso, lo que hacía de la fitoterapia una ciencia netamente empírica. Las recetas médicas eran consideradas un avance médico significativo, resultado de conocimientos y prácticas traídas desde el viejo continente. Pese a la carencia de estudios locales, la literatura médica de la época permitió utilizar la biodiversidad de América para el desarrollo, investigación y uso de nuevos esquemas fitoterapéuticos con dosificaciones establecidas e indicaciones de uso, incluso un lugar específico de dispensación, ampliando aún más las posibilidades terapéuticas. La receta médica que se expone en este artículo era empleada en el manejo de las palpitaciones cardiacas, síntoma frecuente aún en la actualidad, descrito como golpes en tórax y/o cuello, subyacente en diversas enfermedades cardiacas y no cardiacas. La receta para las palpitaciones del archivo histórico Cipriano Rodríguez Santa María es una mezcla de agentes herbarios que, al realizar una revisión en la literatura médica, evidencian efectos antiinflamatorios, ansiolíticos y antioxidantes entre otros, sustentando un posible efecto beneficioso en las palpitaciones cardiacas. Debido a la ausencia de información sobre la posología, seguridad en su uso, contraindicaciones y posibles efectos adversos, es subestimado su potencial uso en aquel entonces para el control de las palpitaciones o como unos agentes fitoquímicos dirigidos para tratar enfermedades causantes de dicho síntoma.
Asunto(s)
Humanos , Historia del Siglo XVIII , Historia del Siglo XIX , Plantas Medicinales/química , Arritmias Cardíacas/historia , Preparaciones de Plantas/historia , Arritmias Cardíacas/tratamiento farmacológico , Preparaciones de Plantas/farmacologíaRESUMEN
ABSTRACT Objective: To present and define the context of a medical prescription dating from the eighteenth century in the New Kingdom of Granada, used for the suppression of menstruation, and to analyze it in the light of current knowledge as to whether its ingredients as a whole, may or may not achieve inhibition of menstrual bleeding. Materials and methods: Documentary search in the Historical Archives of the Octavio Arizmendi Posada Library at Universidad de La Sabana where the prescription "Opilation and menstrual suppression" was found. A review of the literature available in SciELO/proQuest databases was subsequently conducted for the period 1993-2015. Conclusions: The manuscript found describes multiple ingredients that, as a whole, and analyzed in light of current knowledge, are not valid to achieve the alleged suppressive effect. However, the components of the "liquid vitriol of Mars" could be recognized as having antianemic properties, and the potential suppressive effect of prescribing vigorous exercise in the middle of the menstrual cycle, although the recipe does not accurately describe the frequency or intensity of exercising to achieve the desired effect.
RESUMEN Objetivo: Presentar y definir el contexto de una receta médica que data del siglo XVIII en el Nuevo Reino de Granada, utilizada para la supresión de la menstruación, y analizar, a la luz de los conocimientos actuales, si sus ingredientes en conjunto podrían o no lograr la inhibición del sangrado menstrual. Materiales y métodos: Búsqueda documental en el Archivo Histórico de la Biblioteca Octavio Arizmendi Posada en la Universidad de La Sabana, donde se identifica la receta "Opilación y supresión de menstruos", y, posteriormente, se realizó una revisión de la literatura disponible en las bases de datos SciELO/proQuest en el periodo 1993-2015. Conclusiones: En la receta manuscrita hallada se describen múltiples ingredientes que, analizados a la luz de los conocimientos actuales, y en su conjunto, no tienen validez para lograr el pretendido efecto supresor. Sin embargo, se reconocen las propiedades antianémicas del "vitriolo líquido de Marte", y el posible efecto que ejercería el ejercicio excesivo formulado en medio del ciclo menstrual, aunque en la receta no se describe con exactitud la frecuencia ni la intensidad con la que este debería ser realizado para lograr una supresión del menstruo.
Asunto(s)
Historia del Siglo XVIII , Supresión , Historia del Siglo XVIII , Ginecología , MenstruaciónRESUMEN
El síndrome oro-facio-digital (OFD) es un trastorno raro del desarrollo embrionario, cuya incidencia en la población general fluctúa entre menos de 1/1 000 000 y 1/250 000 nacidos vivos. Los pacientes suelen presentar complicaciones del desarrollo de la boca, la cara, las manos y los pies. Hasta el momento se desconoce la mayoría de los genes implicados por lo que el diagnóstico es clínico. Se presenta el caso de un paciente en edad escolar con alteraciones orales, faciales, digitales y auditivas compatibles con el síndrome OFD; por sus características fenotípicas se hizo el diagnóstico de la variante tipo II. La discusión se basa en los criterios para las variantes del síndrome.
Oro-facial-digital syndrome (OFD) is a rare congenital disorder. Its incidence in the general population ranges from less than 1/1.000.000 to 1/250.000 living births. Patients usually present developmental disorders that affect the mouth, face, hands and feet. So far, most of the genes involved are unknown, so diagnosis is clinical. We report the case of a child with oral, facial, and digital alterations, and hearing impairment suggestive of the OFD syndrome. Phenotype was consistent with the type II variant. Discussion is based on the criteria for variants of the syndrome.
A síndrome oral-facial-digital (OFD) é um transtorno raro do desenvolvimento embrionário, cuja incidência na população geral flutua entre menos de 1/1 000 000 e 1/250 000 nascidos vivos. Os pacientes normalmente apresentam complicações do desenvolvimento da boca, a face, as manas e os pies. Até o momento se desconhece a maioria dos genes implicados pelo que o diagnóstico é clínico. Se apresenta o caso de um paciente em idade escolar com alterações orais, faciais, digitais e auditivas compatíveis com a síndrome OFD; por suas características fenotípicas se fez o diagnóstico da variante tipa II. A discussão se baseia nos critérios para as variantes da síndrome.