RESUMO
Studies of the current Chilean population performed using classical genetic markers have established that the Chilean population originated primarily from the admixture of European people, particularly Spaniards, and Amerindians. A socioeconomic-ethno-genetic cline was established soon after the conquest. Spaniards born in Spain or Chile occupied the highest Socioeconomic Strata, while Amerindians belonged to the lowest. The intermediate strata consisted of people with different degrees of ethnic admixture; the larger the European admixture, the higher the Socioeconomic Level. The present study of molecular genomic markers sought to calculate the percentage of Amerindian admixture and revealed a finer distribution of this cline, as well as differences between two Amerindian groups: Aymara and Mapuche. The use of two socioeconomic classifications - Class and Socioeconomic Level - reveals important differences. Furthermore, Self-reported Ethnicity (self-assignment to an ethnic group) and Self-reported Ancestry (self-recognition of Amerindian ancestors) show variations and differing relationships between socioeconomic classifications and genomic Amerindian Admixture. These data constitute a valuable input for the formulation of public healthcare policy and show that the notions of Ethnicity, Socioeconomic Strata and Class should always be a consideration in policy development.
Assuntos
Etnicidade , Genômica , Chile , Frequência do Gene , Marcadores Genéticos , Humanos , Indígenas Sul-Americanos/genética , EspanhaRESUMO
Resumen La Fibrosis Quística (FQ) es la enfermedad hereditaria de pronóstico reservado más frecuente en raza blanca. Desde el año 2003, Chile inicia un Programa Nacional de Fibrosis Quística, de carácter integral, dirigido por la Unidad de Salud Respiratoria del Ministerio de Salud. Hasta la fecha, los principales resultados del Programa registran una significativa mayor sobrevida (promedio 27 años) y una significativa reducción en la edad de diagnóstico de los pacientes ingresados desde 2006 en adelante. El acceso a la canasta GES (Garantías Explícitas en Salud), la implementación del tamizaje neonatal en algunas regiones del país, la organización y la constitución de equipos entrenados en FQ de diversas especialidades, ha contribuido a mejorar los resultados. Si bien las principales manifestaciones son del aparato respiratorio y digestivo, el carácter multisistémico de la FQ obliga a conocer los distintos aspectos involucrados en su manejo, a fin de optimizar los resultados del tratamiento y los recursos invertidos, tanto en el sector público como privado. Este documento es una revisión y actualización sobre los principales aspectos del diagnóstico, seguimiento y tratamiento de las manifestaciones respiratorias y no respiratorias de la FQ.
Cystic Fibrosis (CF) is the most frequent hereditary disease in whites, with a reserved prognosis. Since 2003, Chile began a comprehensive National Cystic Fibrosis Program, directed by the Respiratory Health Unit of the Ministry of Health. To date, the main results of the Program record a significantly longer survival (average 27 years) and a significant reduction in the age of diagnosis of patients admitted from 2006 onwards. Access to Chilean Explicit Health Guarantees, the implementation of neonatal screening in some regions of the country, the organization and setting up of CF-trained teams of various specialties, has contributed to improving results. Although the main manifestations are of the respiratory and digestive system, the multisystemic nature of CF makes it necessary to know the different aspects involved in its management, in order to optimize the results of the treatment and the resources invested, both in the public and private sectors. This document is a review and an update on the main aspects of the diagnosis, monitoring and treatment of the respiratory and non-respiratory manifestations of CF.
RESUMO
INTRODUCCIÓN: La epilepsia afecta a 0,5% a 1% de la población, iniciándose en la infancia en el 60% de los casos. El 25% de los niños que la presentan, tienen epilepsia refractaria (ER) a fármacos antiepilépticos (FAE) y en ellos la dieta cetogénica (DC) surge como un tratamiento no farmacológico efectivo. OBJETIVO: Evaluar el impacto de la DC en el número de crisis, en la calidad de vida y bienestar del paciente y su entorno. PACIENTES Y MÉTODO: Se revisaron los registros médicos de los pacientes con diagnóstico de ER que recibieron DC entre los años 2008 y 2018 registrando variables: edad, diagnóstico, número de crisis, número de FAE, respuesta y complicaciones. La DC se inició en todos los casos con el paciente hospitalizado durante un período no mayor a siete días, en el cual se realizó evaluación nutricional antropométrica con medición de peso y talla según condición clínica. RESULTADOS: Se analizaron 35 DC. La mediana de edad al inicio fue 4,8 años con rango intercuartil (RIC) de 2,3-6,8 años. Se utilizó DC clásica en 49% de los pacientes, Dieta Atkins Modificada en 37% y Dieta de Bajo Índice Glicémico en 14%. Su promedio de duración fue 13 meses + 11 DS meses. Luego de tres meses de iniciada la DC, la reducción de al menos un 50% de las crisis se observó en 82% de los casos, de los cuales 22,8% presentaron reducción de más de 90% y 20% quedó libre de crisis. Se registraron efectos secundarios en 21 pacientes, la mayoría gastrointestinales (62%) y dislipidemia (14%). Todos los efectos secundarios se resolvieron con manejo médico. CONCLUSIONES: La DC es un tratamiento efectivo en pacientes pediátricos con ER y las complicaciones asociadas fueron fácilmente controla das por un equipo multidisciplinario.
INTRODUCTION: Epilepsy affects 0.5 to 1% of the population. 25% of pediatric patients have drug-resistant epilepsy (DRE). Ketogenic Diet (KD) emerges as an effective, non-pharmacological treatment in this group. OBJECTIVE: To describe the effect of KD on seizure control and nutritional status in children whit DRE. PATIENTS AND METHOD: We reviewed the medical records of patients with DRE treated with KD, between 2008 and 2018, evaluating age, diagnosis, number of seizures, number of antiepileptic drugs used, clinical outcomes, and complications. The KD was initiated in all patients hospitalized for a period no longer than seven days, who were evaluated for their nutritional and anthropometric sta tus, with weight and height measurements according to the clinical condition. RESULTS: We analyzed 35 KD in 33 cases. The median age of KD initiation was 4.8 years with an interquartile range (IQR) of 2-3 to 6.8 years. Classical KD was used in 49% of patients, Modified Atkins Diet (MAD) in 37%, and Low-Glycemic Index Treatment (LGIT) in 14% of cases. The average duration was 13 months (SD 11 months). After three months of using KD, we observed at least 50% reduction of seizures in 82% (27/33) of the patients, out of these, 22.8% presented 90% or more reduction of seizures, and 20% ended up seizure-free. Adverse events were observed in 21 patients, mainly gastrointestinal (62%) and dyslipidemia (14%), without effect on height. All side effects resolved with medical ma nagement. CONCLUSIONS: KD is a useful treatment in pediatric patients with DRE without nutritional impact. The adverse events were easily controlled if the patients are evaluated by a multidisciplinary team, according to international guidelines.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Dieta Cetogênica/métodos , Epilepsia Resistente a Medicamentos/dietoterapia , Estado Nutricional , Seguimentos , Resultado do Tratamento , Dieta Cetogênica/efeitos adversos , Epilepsia Resistente a Medicamentos/diagnósticoRESUMO
INTRODUCTION: Epilepsy affects 0.5 to 1% of the population. 25% of pediatric patients have drug-resistant epilepsy (DRE). Ketogenic Diet (KD) emerges as an effective, non-pharmacological treatment in this group. OBJECTIVE: To describe the effect of KD on seizure control and nutritional status in children whit DRE. PATIENTS AND METHOD: We reviewed the medical records of patients with DRE treated with KD, between 2008 and 2018, evaluating age, diagnosis, number of seizures, number of antiepileptic drugs used, clinical outcomes, and complications. The KD was initiated in all patients hospitalized for a period no longer than seven days, who were evaluated for their nutritional and anthropometric sta tus, with weight and height measurements according to the clinical condition. RESULTS: We analyzed 35 KD in 33 cases. The median age of KD initiation was 4.8 years with an interquartile range (IQR) of 2-3 to 6.8 years. Classical KD was used in 49% of patients, Modified Atkins Diet (MAD) in 37%, and Low-Glycemic Index Treatment (LGIT) in 14% of cases. The average duration was 13 months (SD 11 months). After three months of using KD, we observed at least 50% reduction of seizures in 82% (27/33) of the patients, out of these, 22.8% presented 90% or more reduction of seizures, and 20% ended up seizure-free. Adverse events were observed in 21 patients, mainly gastrointestinal (62%) and dyslipidemia (14%), without effect on height. All side effects resolved with medical ma nagement. CONCLUSIONS: KD is a useful treatment in pediatric patients with DRE without nutritional impact. The adverse events were easily controlled if the patients are evaluated by a multidisciplinary team, according to international guidelines.
Assuntos
Dieta Cetogênica/métodos , Epilepsia Resistente a Medicamentos/dietoterapia , Criança , Pré-Escolar , Dieta Cetogênica/efeitos adversos , Epilepsia Resistente a Medicamentos/diagnóstico , Feminino , Seguimentos , Humanos , Masculino , Estado Nutricional , Resultado do TratamentoRESUMO
Cystic Fibrosis (CF) is the most frequent hereditary disease in whites, with a reserved prognosis. Since 2003, Chile began a comprehensive National Cystic Fibrosis Program, directed by the Respiratory Health Unit of the Ministry of Health. To date, the main results of the Program record a significantly longer survival (average 27 years) and a significant reduction in the age of diagnosis of patients admitted from 2006 onwards. Access to Chilean Explicit Health Guarantees, the implementation of neonatal screening in some regions of the country, the organization and setting up of CF-trained teams of various specialties, has contributed to improving results. Although the main manifestations are of the respiratory and digestive system, the multisystemic nature of CF makes it necessary to know the different aspects involved in its management, in order to optimize the results of the treatment and the resources invested, both in the public and private sectors. This document is a review and an update on the main aspects of the diagnosis, monitoring and treatment of the respiratory and non-respiratory manifestations of CF.
La Fibrosis Quística (FQ) es la enfermedad hereditaria de pronóstico reservado más frecuente en raza blanca. Desde el año 2003, Chile inicia un Programa Nacional de Fibrosis Quística, de carácter integral, dirigido por la Unidad de Salud Respiratoria del Ministerio de Salud. Hasta la fecha, los principales resultados del Programa registran una significativa mayor sobrevida (promedio 27 años) y una significativa reducción en la edad de diagnóstico de los pacientes ingresados desde 2006 en adelante. El acceso a la canasta GES (Garantías Explícitas en Salud), la implementación del tamizaje neonatal en algunas regiones del país, la organización y la constitución de equipos entrenados en FQ de diversas especialidades, ha contribuido a mejorar los resultados. Si bien las principales manifestaciones son del aparato respiratorio y digestivo, el carácter multisistémico de la FQ obliga a conocer los distintos aspectos involucrados en su manejo, a fin de optimizar los resultados del tratamiento y los recursos invertidos, tanto en el sector público como privado. Este documento es una revisión y actualización sobre los principales aspectos del diagnóstico, seguimiento y tratamiento de las manifestaciones respiratorias y no respiratorias de la FQ.
Assuntos
Humanos , Criança , Adulto , Prestação Integrada de Cuidados de Saúde , Fibrose Cística/diagnóstico , Fibrose Cística/terapia , Chile , Estado Nutricional , Fibrose Cística/reabilitação , Consenso , Recursos em SaúdeRESUMO
Alternative phylogenies for the genus Streptococcus have been proposed due to uncertainty about the among-species group relationships. Here, we performed a phylogenetic analysis of the genus Streptococcus, considering all the species groups and also the genomic data accumulated by other studies. Seventy-five species were subjected to a Bayesian phylogenetic analysis using sequences from eight genes (16S rRNA, rpoB, sodA, tuf, rnpB, gyrB, dnaJ, and recN). On the basis of our results, we propose a new Phylogeny for the genus, with special emphasis on the inter-species group level. This new phylogeny differs from those suggested previously. From topological and evolutionary distance criteria, we propose that gordonii, pluranimalium, and sobrinus should be considered as new species groups, in addition to the currently recognized groups of mutans, bovis, pyogenic, suis, mitis, and salivarius.
Assuntos
Streptococcus/classificação , Streptococcus/genética , Teorema de Bayes , Evolução Biológica , Classificação/métodos , DNA Bacteriano/genética , Genoma Bacteriano , Filogenia , Análise de Sequência de DNA , Especificidade da EspécieRESUMO
Streptococcus is a diverse bacterial lineage. Species of this genus occupy a myriad of environments inside humans and other animals. Despite the elucidation of several of these habitats, many remain to be identified. Here, we explore a methodological approach to reveal unknown bacterial environments. Specifically, we inferred the phylogeny of the Mitis group by analyzing the sequences of eight genes. In addition, information regarding habitat use of species belonging to this group was obtained from the scientific literature. The oral cavity emerged as a potential, previously unknown, environment of Streptococcus massiliensis. This phylogeny-based prediction was confirmed by species-specific polymerase chain reaction (PCR) amplification. We propose employing a similar approach, i.e., use of bibliographic data and molecular phylogenetics as predictive methods, and species-specific PCR as confirmation, in order to reveal other unknown habitats in further bacterial taxa.