ABSTRACT
Introducción: las anomalías congénitas (AC) son un problema de salud pública con impacto en la infancia, la mortalidad infantil (MI) y la discapacidad. En Uruguay, así como en otros países desarrollados, las AC y la prematuridad son las principales causas de MI. Objetivos: el objetivo de este trabajo fue analizar las anomalías más frecuentes en el país entre 2011 y 2014, y evaluar los factores de riesgo. Material y método: los datos se obtuvieron del Registro Nacional de Defectos Congénitos y Enfermedades Raras y Estadísticas Vitales del Ministerio de Salud Pública. Resultados: se determinó que prácticamente la mitad de los casos fueron: cardiopatías congénitas, síndrome de Down y defectos del tubo neural (anencefalia, encefalocele y mielomeningocele), representando 0,42% (812/191.820) y 2,85% (38/1334) de los nacidos vivos (NV) y de los óbitos fetales respectivamente. Las prevalencias por 10.000 NV y OF fueron: 38,52 y 149,93 para cardiopatías congénitas; 3,6 y 7,5 para síndrome de Down; 2,1 y 127,4 para defectos del tubo neural. La edad materna avanzada fue el principal factor de riesgo de síndrome de Down. Los factores de riesgo observados en las tres anomalías seleccionadas fueron: prematurez, depresión neonatal y bajo peso al nacer. Conclusiones: las anomalías congénitas en general y las seleccionadas en este trabajo en particular, constituyen una causa relevante de morbimortalidad en el período neonatal e infantil, plausibles de prevención. El diagnóstico temprano es fundamental para planificar servicios de salud especializados. Los resultados aquí presentados se pueden utilizar como línea de base para medir el impacto de las acciones de salud a nivel nacional.
Introduction: congenital anomalies (CA) are a public health problem with an impact on childhood, infant mortality (IM) and disability. In Uruguay, as well as in other developed countries, CA and prematurity are the main causes of IM. Objectives: analyze the most frequent anomalies in the country in 2011-2014 and evaluate risk factors. Material and methods: the data were obtained from the National Record of Congenital Defects and Rare Diseases and health statistics from the Ministry of Public Health. Results: it was determined that practically half of the cases were: congenital heart disease, Down syndrome and Neural Tube Defects (anencephaly, encephalocele and myelomeningocele), accounting for 0.42% (812/191,820) and 2.85% (38/1334) of live births and stillbirths respectively. The prevalence per 10,000 NV and stillbirths were: 38.52 and 149.93 for Congenital Heart Disease; 3.6 and 7.5 for Down Syndrome; 2.1 and 127.4 for neural tube defects. Advanced maternal age was the main risk factor for Down syndrome. The risk factors observed in the three selected anomalies were: prematurity, neonatal depression and low birth weight. Conclusions: congenital anomalies in general, and those selected in this study in particular, are a relevant cause of morbidity and mortality in newborns and infants, likely to be prevented. Early diagnosis is essential for planning specialized health services. The results presented in the present paper can be used as a baseline to measure the impact of health actions at national level.
Introdução: as anomalias congênitas (AC) são um problema de saúde pública com impacto na infância, na mortalidade infantil (MI) e na deficiência. No Uruguai, assim como em outros países desenvolvidos as AC e prematuridade são as principais causas de MI. Objetivos: analisar as anomalias mais frequentes no país, entre 2011-2014 e avaliar os fatores de risco. Material e métodos: os dados foram obtidos do Registro Nacional de Defeitos Congênitos e Doenças Raras e estatísticas vitais do Ministério da Saúde Pública. Resultados: determinou-se que praticamente a metade dos casos eram: cardiopatias congênitas, Síndrome de Down e Defeitos do tubo neural (anencefalia, encefalocele e mielomeningocele), representando 0,42% (812/191.820) e 2,85% (38/1334) de nascidos vivos-NV e natimortos, respectivamente. As prevalências por 10.000 NV e natimortos foram: 38,52 e 149,93 para Cardiopatia Congênita; 3,6 e 7,5 para Síndrome de Down; 2,1 e 127,4 para defeitos do tubo neural. A idade materna avançada foi o principal fator de risco para a síndrome de Down. Os fatores de risco observados nas três anomalias selecionadas foram: prematuridade, depressão neonatal e baixo peso ao nascer. Conclusões: as anomalias congênitas em geral e as selecionadas neste estudo em particular, constituem causa relevante de morbimortalidade no período neonatal e infantil, possível de ser prevenida. O diagnóstico precoce é fundamental para o planejamento de serviços de saúde especializados. Os resultados aqui apresentados podem ser usados como base para medir o impacto das ações de saúde realizadas a nível nacional.
Subject(s)
Humans , Down Syndrome/epidemiology , Heart Defects, Congenital/epidemiology , Neural Tube Defects/epidemiology , Uruguay/epidemiology , Prevalence , Cross-Sectional Studies , Risk Factors , Meningomyelocele/epidemiology , Encephalocele/epidemiology , Anencephaly/epidemiologyABSTRACT
BACKGROUND Erythema nodosum leprosum (ENL) is an acute and systemic inflammatory reaction of leprosy characterised by painful nodules and involvement of various organs. Thalidomide is an immunomodulatory and anti-inflammatory drug currently used to treat this condition. Cereblon (CRBN) protein is the primary target of thalidomide, and it has been pointed out as necessary for the efficacy of this drug in others therapeutics settings. OBJECTIVES In this study, we aimed to evaluate the influence of CRBN gene variants on the dose of thalidomide as well as its adverse effects during treatment of ENL. METHODS A total of 103 ENL patients in treatment with thalidomide were included in this study. DNA samples were obtained from saliva and molecular analysis of CRBN gene were performed to investigate the variants rs1620675, rs1672770 and rs4183. Different genotypes of CRBN variants were evaluated in relation to their influence on the dose of thalidomide and on the occurrence of adverse effects. FINDINGS No association was found between CRBN variants and thalidomide dose variation. However, the genotypes of rs1672770 showed association with gastrointestinal effects (p = 0.040). Moreover, the haplotype DEL/C/T (rs4183/rs1672770/rs1620675) was also associated with gastrointestinal adverse effects (p = 0.015). MAIN CONCLUSIONS Our results show that CRBN variants affect the treatment of ENH with thalidomide, especially on the adverse effects related to the drug.
ABSTRACT
Introduction: Microcephaly is a clinical finding that can arise from congenital anomalies or emerge after childbirth. Maternal infections acquired during pregnancy can result in characteristic brain damage in the newborn (NB), which may be visible even in the fetal stage. To describe the epidemiological profile of newborns with reported microcephaly and diagnosed with congenital infections in the state of Rio Grande do Sul between 2015 and 2017. Methods: A cross-sectional study was carried out on data collected from the Public Health Event Registry as well as from medical records. The investigation included serologies for toxoplasmosis and rubella; polymerase chain reaction (PCR) for Zika virus (ZIKV) in the blood and cytomegalovirus in the urine; non-treponemal tests for syphilis; and brain imaging tests. Results: Of the 257 reported cases of microcephaly, 39 were diagnosed with congenital infections. Severe microcephaly was identified in 13 patients (33.3%) and 51.3% of the cases showed alterations in brain imaging tests. In relation to the diagnosis of congenital infections, three patients (7.7%) were diagnosed with ZIKV, nine (23.1%) with cytomegalovirus, nine (23.1%) with toxoplasmosis, and 18 (46.1%) with congenital syphilis. The three cases of ZIKV showed calcification in brain imaging tests, signs of arthrogryposis, excess occipital skin and irritability, characterizing the typical phenotype of ZIKV infection. Conclusions: Most cases of congenital infection had severe neurological lesions, particularly the cases of ZIKV, which can cause neurodevelopmental delays and sequelae in these infants throughout early childhood.
Subject(s)
Humans , Female , Infant, Newborn , Adolescent , Adult , Zika Virus/pathogenicity , Microcephaly/epidemiology , Microcephaly/diagnostic imaging , Rubella/blood , Toxoplasmosis, Congenital/blood , Infant, Newborn, Diseases/bloodABSTRACT
25 anos de Bioética Clínica no HCPA.
25 years of Clinical Bioethics at HCPA.
Subject(s)
Humans , Ethics, ClinicalABSTRACT
Abstract Musicality is defined as a natural tendency, sensibility, knowledge, or talent to create, perceive, and play music. Musical abilities involve a great range of social and cognitive behaviors, which are influenced by both environmental and genetic factors. Although a number of studies have yielded insights into music genetics research, genes and biological pathways related to these traits are not fully understood. Our hypothesis in the current study is that genes associated with different behaviors could also influence the musical phenotype. Our aim was to investigate whether polymorphisms in six genes (AVPR1A, SLC6A4, ITGB3, COMT, DRD2 and DRD4) related to social and cognitive traits are associated with musicality in a sample of children. Musicality was assessed through an individualized music therapy assessment profile (IMTAP) which has been validated in Brazil to measure musical ability. We show here that the RS1 microsatellite of the AVPR1A gene is nominally associated with musicality, corroborating previous results linking AVPR1A with musical activity. This study is one of the first to investigate musicality in a comprehensive way, and it contributes to better understand the genetic basis underlying musical ability.
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Abstract Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects - or teratogens - as a public health issue and present their mechanisms of action, categories and their respective maternal-fetal deleterious effects. We also present a survey from 2008 to 2013 of Brazilian cases involving congenital anomalies (annual average of 20,205), fetal deaths (annual average of 1,530), infant hospitalizations (annual average of 82,452), number of deaths of hospitalized infants (annual average of 2,175), and the average cost of hospitalizations (annual cost of $7,758). Moreover, we report on Brazilian cases of teratogenesis due to the recent Zika virus infection, and to the use of misoprostol, thalidomide, alcohol and illicit drugs. Special attention has been given to the Zika virus infection, now proven to be responsible for the microcephaly outbreak in Brazil, with 8,039 cases under investigation (from October 2015 to June 2016). From those cases, 1,616 were confirmed and 324 deaths occurred due to microcephaly complications or alterations on the central nervous system. Congenital anomalies impact life quality and raise costs in specialized care, justifying the classification of teratogens as a public health issue.
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Abstract INTRODUCTION: This study evaluated leprosy rates in Rio Grande do Sul, an area with a historically low prevalence. However, recent studies are lacking. METHODS: Data extracted from a National Database were analyzed for clinical features and compared to 1980s data. Tendency was assessed via stationarity analysis. RESULTS: Between 1990 and 2011, 4,770 cases were reported (0.21/10,000 inhabitants; 95% CI = 0.19-0.24). Detection was slightly higher among males, 1.9% cases were among children and most multibacillary (74.7%) at diagnosis. CONCLUSIONS: Leprosy is controlled in RS, but most cases are multibacillary. Early identification is important to avoid disabilities due to late diagnosis.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Leprosy/epidemiology , Brazil/epidemiology , Incidence , PrevalenceABSTRACT
ABSTRACT The Zika virus (ZIKV) was identified in 1947 in the Zika forest in Uganda, but recently it has emerged as a public health threat. The first evidence of human infection occurred in 1952, but only in April 2007 was the first outbreak in humans recognized. In the Americas, a ZIKV outbreak began in Brazil in 2015, and from the second half of 2015 onward, a substantial number of newborns with severe microcephaly began to be reported to health authorities. In February 2016, the World Health Organization (WHO) declared that the clusters of microcephaly cases in areas affected by ZIKV constituted a Public Health Emergency of International Concern. Seldom has there been such a resultingly vast production of scientific literature in record time. In this report we discuss the impact of ZIKV infection during pregnancy, the diagnosis and surveillance of microcephaly, the recognition of a clinical phenotype of ZIKV congenital infection, and opportunities for public health action. We consider this to be a unique opportunity for countries in the Region of the Americas to develop, strengthen, and improve surveillance systems for congenital anomalies and teratogen information services. Creating health needs assessment tools for low- and middle-income countries may help them to develop effective policies to ensure primary, secondary, and tertiary prevention measures for congenital anomalies. Such initiatives will be useful for ZIKV congenital syndrome control and also for having a much wider impact on a significant proportion of preventable and manageable congenital conditions.
RESUMEN El virus del Zika (ZIKV) se identificó en 1947 en el bosque de Zika, en Uganda, pero recientemente ha surgido como una amenaza para la salud pública. Los primeros datos de la infección en seres humanos surgieron en 1952, pero no fue hasta abril del 2007 que se reconoció el primer brote en seres humanos. En la Región de las Américas, en el 2015 se inició un brote del virus en el Brasil, y desde la segunda mitad de ese año en adelante se empezó a notificar a las autoridades de salud un número considerable de recién nacidos con microcefalia grave. En febrero del 2016, la Organización Mundial de la Salud (OMS) declaró que los conglomerados de casos de microcefalia detectadas en las zonas afectadas por el ZIKV constituían una emergencia de salud pública de importancia internacional. Raramente ha habido una consiguiente producción tan vasta de publicaciones científicas en un tiempo récord. En este informe se aborda la repercusión de la infección por el ZIKV durante el embarazo, el diagnóstico y la vigilancia de la microcefalia, el reconocimiento de un fenotipo clínico de la infección congénita por el ZIKV y las oportunidades para las intervenciones de salud pública. Consideramos que se trata de una oportunidad única para los países de la Región de las Américas de desarrollar, fortalecer y mejorar los sistemas de vigilancia de las anomalías congénitas y los servicios de información sobre teratógenos. La creación de herramientas de evaluación de las necesidades de salud para los países de ingresos bajos y medianos puede ayudarles a elaborar políticas eficaces destinadas a asegurar medidas preventivas primarias, secundarias y terciarias para las anomalías congénitas. Dichas iniciativas serán útiles para el control del síndrome congénito del ZIKV y también para tener una incidencia mucho mayor sobre una proporción significativa de las enfermedades congénitas prevenibles y controlables.
RESUMO O vírus Zika (ZIKV) foi identificado em 1947 em animais na floresta de Zika, em Uganda, mas se tornou um grande risco à saúde pública nos últimos anos. A primeira evidência de infecção humana data de 1952, porém o primeiro surto em seres humanos foi registrado somente em abril de 2007. Na Região das Américas, o Brasil registrou um surto de zika em 2015 e, a partir de meados daquele ano, passou a ser notificado aos órgãos de saúde um número considerável de casos de recém-nascidos com microcefalia grave. Em fevereiro de 2016, a Organização Mundial da Saúde (OMS) decretou que a concentração de casos de microcefalia nas áreas de ocorrência de zika representava uma situação de emergência em saúde pública de interesse internacional. Raras vezes se viu tamanha produção de conhecimento científico em tão pouco tempo. Este artigo examina as consequências da infecção pelo vírus Zika durante a gestação, discorre sobre o diagnóstico e a vigilância de casos de microcefalia e a identificação de um fenótipo clínico da infecção congênita pelo ZIKVS e aponta oportunidades para ação em saúde pública. Os autores consideram ser esta uma oportunidade única aos países da Região das Américas de expandir a capacidade e reforçar e melhorar a qualidade dos sistemas de vigilância de malformações congênitas e os serviços de informação sobre teratogenicidade. Desenvolver instrumentos para avaliar as necessidades em saúde dos países de baixa e média renda pode favorecer a formulação de políticas eficazes que garantam medidas de prevenção primária, secundária e terciária de malformações congênitas. Tais iniciativas possibilitariam o controle da síndrome congênita do zika e também poderiam repercutir mais amplamente em um conjunto importante de afecções congênitas que podem ser prevenidas e controladas.