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This review aimed to provide an update on the morphological and/or functional abnormalities related to congenital Zika virus (ZIKV) infection, based on primary data from studies conducted in Brazil since 2015. During the epidemic years (2015-2016), case series and pediatric cohort studies described several birth defects, including severe and/or disproportionate microcephaly, cranial bone overlap, skull collapse, congenital contractures (arthrogryposis and/or clubfoot), and visual and hearing abnormalities, as part of the spectrum of Congenital Zika Syndrome (CZS). Brain imaging abnormalities, mainly cortical atrophy, ventriculomegaly, and calcifications, serve as structural markers of CZS severity. Most case series and cohorts of microcephaly have reported the co-occurrence of epilepsy, dysphagia, orthopedic deformities, motor function impairment, cerebral palsy, and urological impairment. A previous large meta-analysis conducted in Brazil revealed that a confirmed ZIKV infection during pregnancy was associated with a 4% risk of microcephaly. Additionally, one-third of children showed at least one abnormality, predominantly identified in isolation. Studies examining antenatally ZIKV-exposed children without detectable abnormalities at birth reported conflicting neurodevelopmental results. Therefore, long-term follow-up studies involving pediatric cohorts with appropriate control groups are needed to address this knowledge gap. We recognize the crucial role of a national network of scientists collaborating with international research institutions in understanding the lifelong consequences of congenital ZIKV infection. Additionally, we highlight the need to provide sustainable resources for research and development to reduce the risk of future Zika outbreaks.
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Microcefalia , Complicações Infecciosas na Gravidez , Infecção por Zika virus , Infecção por Zika virus/congênito , Infecção por Zika virus/complicações , Infecção por Zika virus/epidemiologia , Humanos , Brasil/epidemiologia , Gravidez , Feminino , Microcefalia/virologia , Microcefalia/epidemiologia , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/virologia , Recém-NascidoRESUMO
ABSTRACT This review aimed to provide an update on the morphological and/or functional abnormalities related to congenital Zika virus (ZIKV) infection, based on primary data from studies conducted in Brazil since 2015. During the epidemic years (2015-2016), case series and pediatric cohort studies described several birth defects, including severe and/or disproportionate microcephaly, cranial bone overlap, skull collapse, congenital contractures (arthrogryposis and/or clubfoot), and visual and hearing abnormalities, as part of the spectrum of Congenital Zika Syndrome (CZS). Brain imaging abnormalities, mainly cortical atrophy, ventriculomegaly, and calcifications, serve as structural markers of CZS severity. Most case series and cohorts of microcephaly have reported the co-occurrence of epilepsy, dysphagia, orthopedic deformities, motor function impairment, cerebral palsy, and urological impairment. A previous large meta-analysis conducted in Brazil revealed that a confirmed ZIKV infection during pregnancy was associated with a 4% risk of microcephaly. Additionally, one-third of children showed at least one abnormality, predominantly identified in isolation. Studies examining antenatally ZIKV-exposed children without detectable abnormalities at birth reported conflicting neurodevelopmental results. Therefore, long-term follow-up studies involving pediatric cohorts with appropriate control groups are needed to address this knowledge gap. We recognize the crucial role of a national network of scientists collaborating with international research institutions in understanding the lifelong consequences of congenital ZIKV infection. Additionally, we highlight the need to provide sustainable resources for research and development to reduce the risk of future Zika outbreaks.
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BACKGROUND: The COVID-19 pandemic had a major impact on the mental health of healthcare workers (HCWs), especially in low and middle-income countries, which had to face additional political, social, and economic challenges. We thus aimed to assess the prevalence of mental health outcomes and the associated factors in HCWs treating COVID-19 patients in one of the most affected regions in Brazil. METHODS: We used the Respondent-Driven Sampling method to assess the risks of COVID-19 infection and symptoms of mental disorders in nurses, nursing technicians, and physicians who worked on the frontline in the metropolitan region of Recife. 865 healthcare workers completed a survey regarding sociodemographic data, work-related risks, and symptoms of mental disorders - SRQ-20 for common mental disorders (CMD); AUDIT-C for problematic alcohol use; GAD-7 for anxiety; PHQ-9 for depression; PCL-5 for post-traumatic stress disorder (PTSD). Gile's successive sampling estimator was used to produce the weighted estimates by professional category. A Poisson regression model with robust variance was used to analyze factors associated with a positive screening for CMD. We will present the results of a cross-sectional analysis of the mental health outcomes after the first peak of COVID-19 - from August 2020 to February 2021. RESULTS: The prevalence ratios for a positive screening for CMD were 34.9% (95% CI: 27.8-41.9) in nurses, 28.6% (95% CI: 21.3-36.0) in physicians, and 26.6% (95% CI: 16.8-36.5) in nursing technicians. Nurses presented a higher prevalence of depressive symptoms (23%). Positive screening for problematic alcohol use (10.5 to14.0%), anxiety (10.4 to 13.3%), and PTSD (3.3 to 4.4%) were similar between the professional categories. The main factors associated with CMD in nurses and physicians were related to an intrinsic susceptibility to mental illness, such as previous or family history of psychiatric disorder, and female sex. Among nurse technicians, work-related factors, such as accidents with biological material, presented the strongest association with CMD. CONCLUSION: The mental health of HCWs fighting COVID-19 in Recife was severely affected. It is crucial that healthcare services provide adequate working conditions and psychological support, investing in programs to promote and protect HCWs mental health.
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COVID-19 , Pessoal de Saúde , Transtornos Mentais , Pandemias , Feminino , Humanos , Ansiedade/epidemiologia , Brasil/epidemiologia , COVID-19/epidemiologia , COVID-19/psicologia , COVID-19/terapia , Estudos Transversais , Depressão/epidemiologia , Pessoal de Saúde/psicologia , Pessoal de Saúde/estatística & dados numéricos , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Transtornos Mentais/epidemiologia , Masculino , Adulto , Inquéritos e QuestionáriosRESUMO
Objective: The presence of two or more chronic diseases results in worse clinical outcomes than expected by a simple combination of diseases. This synergistic effect is expected to be higher when combined with some conditions, depending on the number and severity of diseases. Multimorbidity is a relatively new term, with the first fundamental definitions appearing in 2015. Studies usually define it as the presence of at least two chronic medical illnesses. However, little is known regarding the relationship between mental disorders and other non-psychiatric chronic diseases. This review aims at investigating the association between some mental disorders and non-psychiatric diseases, and their pattern of association. Methods: We performed a systematic approach to selecting papers that studied relationships between chronic conditions that included one mental disorder from 2015 to 2021. These were processed using Covidence, including quality assessment. Results: This resulted in the inclusion of 26 papers in this study. It was found that there are strong associations between depression, psychosis, and multimorbidity, but recent studies that evaluated patterns of association of diseases (usually using clustering methods) had heterogeneous results. Quality assessment of the papers generally revealed low quality among the included studies. Conclusions: There is evidence of an association between depressive disorders, anxiety disorders, and psychosis with multimorbidity. Studies that tried to examine the patterns of association between diseases did not find stable results. Systematic review registration: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42021216101, identifier: CRD42021216101.
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BACKGROUND: Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression. Additionally, patients affected with this condition have higher frequency of sleep disorders, ear infections, hearing loss and slowed development milestones. Considering these clinical features, we aimed to summarize the regional experts' recommendations for the multidisciplinary management of patients with achondroplasia in Latin America, a vast geographic territory with multicultural characteristics and with socio-economical differences of developing countries. METHODS: Latin American experts (from Argentina, Brazil, Chile and Colombia) particiáted of an Advisory Board meeting (October 2019), and had a structured discussion how patients with achondroplasia are followed in their healthcare centers and punctuated gaps and opportunities for regional improvement in the management of achondroplasia. RESULTS: Practical recommendations have been established for genetic counselling, prenatal diagnosis and planning of delivery in patients with achondroplasia. An outline of strategies was added as follow-up guidelines to specialists according to patient developmental phases, amongst them neurologic, orthopedic, otorhinolaryngologic, nutritional and anthropometric aspects, and related to development milestones. Additionally, the role of physical therapy, physical activity, phonoaudiology and other care related to the quality of life of patients and their families were discussed. Preoperative recommendations to patients with achondroplasia were also included. CONCLUSIONS: This study summarized the main expert recommendations for the health care professionals management of achondroplasia in Latin America, reinforcing that achondroplasia-associated comorbidities are not limited to orthopedic concerns.
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Acondroplasia , Cifose , Acondroplasia/diagnóstico , Acondroplasia/genética , Acondroplasia/terapia , Criança , Feminino , Aconselhamento Genético , Humanos , América Latina/epidemiologia , Qualidade de VidaRESUMO
Signal sequence receptor protein 4 (SSR4) is a subunit of the translocon-associated protein complex, which participates in the translocation of proteins across the endoplasmic reticulum membrane, enhancing the efficiency of N-linked glycosylation. Pathogenic variants in SSR4 cause a congenital disorder of glycosylation: SSR4-congenital disorders of glycosylation (CDG). We describe three SSR4-CDG boys and review the previously reported. All subjects presented with hypotonia, failure to thrive, developmental delay, and dysmorphic traits and showed a type 1 serum sialotransferrin profile, facilitating the diagnosis. Genetic confirmation of this X-linked CDG revealed one de novo hemizygous deletion, one maternally inherited deletion, and one de novo nonsense mutation of SSR4. The present subjects highlight the similarities with a connective tissue disorder (redundant skin, joint laxity, blue sclerae, and vascular tortuosity). The connective tissue problems are relevant, and require preventive rehabilitation measures. As an X-linked disorder, genetic counseling is essential.
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Proteínas de Ligação ao Cálcio , Defeitos Congênitos da Glicosilação , Glicoproteínas de Membrana , Receptores Citoplasmáticos e Nucleares , Receptores de Peptídeos , Proteínas de Ligação ao Cálcio/genética , Defeitos Congênitos da Glicosilação/diagnóstico , Defeitos Congênitos da Glicosilação/genética , Defeitos Congênitos da Glicosilação/patologia , Tecido Conjuntivo/patologia , Glicosilação , Humanos , Masculino , Glicoproteínas de Membrana/genética , Fenótipo , Receptores Citoplasmáticos e Nucleares/genética , Receptores de Peptídeos/genéticaRESUMO
METHODS: Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population. RESULTS: We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery. CONCLUSION: Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate.
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Doenças Neurodegenerativas/diagnóstico , Atrofias Musculares Espinais da Infância/diagnóstico , Adolescente , Adulto , Biópsia , Criança , Chile/epidemiologia , Estudos de Coortes , Eletromiografia , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Doenças Neurodegenerativas/mortalidade , Doenças Neurodegenerativas/terapia , Fenótipo , Prevalência , Características de Residência , Respiração Artificial , Escoliose/cirurgia , Fatores Socioeconômicos , Atrofias Musculares Espinais da Infância/mortalidade , Atrofias Musculares Espinais da Infância/terapia , Adulto JovemRESUMO
ABSTRACT Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. Methods This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population. Results We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery. Conclusion Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate.
La Atrofia Muscular Espinal (AME) ha concitado mucha atención en los últimos 2 años debido a la aprobación del primer tratamiento intratecal para esta enfermedad neurodegenerativa. América Latina necesita desarrollar la demografía de AME, un acceso oportuno al diagnóstico y un seguimiento apropiado de los pacientes que incorporen los estándares de atención recomendados por expertos. Estos son pasos esenciales para orientar las futuras políticas de salud en esta enfermedad. Métodos Este es un estudio descriptivo de una cohorte de pacientes con AME de todo el país. Se analizaron los datos clínicos, motores, funcionales, sociales y el estado nutricional, respiratorio y esquelético de los pacientes. También medimos el número de copias del gen SMN2 en esta población. Resultados se reclutaron 92 pacientes, 50 varones; 23 AME tipo 1, 36 AME tipo 2 y 33 AME tipo 3. La edad media al diagnóstico genético fue de 5, 24 y 132 meses respectivamente. Evaluamos el número de copias de SMN2 en 57 pacientes. Un 69,6% de los pacientes con AME tipo 1 estaban traqueostomízados y gastrostomizados , un 65% de los pacientes con AME tipo 2 usaban ventilación nocturna no invasiva y el 37% de toda la cohorte presentaba una cirugía de escoliosis. Conclusión Esta cohorte chilena de pacientes con AME tuvo acceso oportuno al diagnóstico genético, asistencia ventilatoria, apoyo nutricional y cirugía de escoliosis, sin embargo, la atención ventilatoria para AME tipo 1 continúa aun basándose principalmente en la traqueostomía. En esta serie, AME tipo 1 está subrepresentada, probablemente debido a las restricciones en el acceso al diagnóstico temprano y la tasa de mortalidad alta y temprana.
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Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Criança , Adolescente , Adulto , Adulto Jovem , Atrofias Musculares Espinais da Infância/diagnóstico , Doenças Neurodegenerativas/diagnóstico , Fenótipo , Respiração Artificial , Escoliose/cirurgia , Fatores Socioeconômicos , Biópsia , Atrofias Musculares Espinais da Infância/mortalidade , Atrofias Musculares Espinais da Infância/terapia , Chile/epidemiologia , Características de Residência , Prevalência , Estudos de Coortes , Doenças Neurodegenerativas/mortalidade , Doenças Neurodegenerativas/terapia , Predisposição Genética para Doença , Eletromiografia , GenótipoRESUMO
Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. The classical diagnostic algorithm in many patients has been insufficient to guide the genetic study in an adequate way, and from this the muscular magnetic resonance imaging has emerged as a very useful tool for a better diagnostic approach of this and other muscular pathologies. This ob jective of this review is to study the forms of presentation, clinical characteristics, specific diagnostic study, differential diagnosis and management of one of the most frequent hereditary muscular patho logies, with emphasis on the contribution of muscle magnetic resonance imaging.
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Colágeno Tipo VI/genética , Contratura/diagnóstico , Distrofias Musculares/congênito , Esclerose/diagnóstico , Contratura/genética , Contratura/terapia , Diagnóstico Diferencial , Marcadores Genéticos , Testes Genéticos , Humanos , Imageamento por Ressonância Magnética , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Distrofias Musculares/terapia , Mutação , Exame Físico , Esclerose/genética , Esclerose/terapiaRESUMO
Resumen: Las miopatías secundarias a mutaciones en el colágeno VI (M-COLVI) son las más frecuentes en el hemisferio norte, afectando población adulta y pediátrica. No existen datos de su prevalencia en Latinoamérica. Se caracterizan por presentar una gran variabilidad clínica, desde fenotipos severos, como la distrofia muscular congénita de Ullrich (DMCU), a intermedios y leves como la Miopatía de Bethlem (MB). Su inicio también es variable y se extiende desde el período de recién nacido hasta la vida adulta. Dada la presencia de hiperlaxitud articular, el diagnóstico diferencial se debe realizar con diversas enfermedades del tejido conectivo. El algoritmo diagnóstico clásico en muchos pacientes ha sido insuficiente para orientar el estudio genético de forma adecuada, y a partir de esto la resonancia magnética muscular ha emergido como una herramienta de gran utilidad para una mejor aproxima ción diagnóstica de ésta y otras patologías musculares. Esta revisión tiene como objetivo examinar las formas de presentación, características clínicas, estudio diagnóstico específico, diagnóstico dife rencial y manejo de una de las patologías musculares herediatarias más frecuentes, con énfasis en el aporte de la resonancia magnética muscular.
Abstract: Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. The classical diagnostic algorithm in many patients has been insufficient to guide the genetic study in an adequate way, and from this the muscular magnetic resonance imaging has emerged as a very useful tool for a better diagnostic approach of this and other muscular pathologies. This ob jective of this review is to study the forms of presentation, clinical characteristics, specific diagnostic study, differential diagnosis and management of one of the most frequent hereditary muscular patho logies, with emphasis on the contribution of muscle magnetic resonance imaging.
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Humanos , Esclerose/diagnóstico , Contratura/diagnóstico , Colágeno Tipo VI/genética , Distrofias Musculares/congênito , Exame Físico , Esclerose/genética , Esclerose/terapia , Imageamento por Ressonância Magnética , Marcadores Genéticos , Testes Genéticos , Contratura/genética , Contratura/terapia , Diagnóstico Diferencial , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Distrofias Musculares/terapia , MutaçãoRESUMO
The aim of the study was to evaluate the temporal patterns of dengue incidence from 2001 to 2014 and forecast for 2015 in two Brazilian cities. We analysed dengue surveillance data (SINAN) from Recife, 1.6 million population, and Goiania, 1.4 million population. We used Auto-Regressive Integrated Moving Average (ARIMA) modelling of monthly notified dengue incidence (2001-2014). Forecasting models (95% prediction interval) were developed to predict numbers of dengue cases for 2015. During the study period, 73,479 dengue cases were reported in Recife varying from 11 cases/100,000 inhab (2004) to 2418 cases/100,000 inhab (2002). In Goiania, 253,008 dengue cases were reported and the yearly incidence varied from 293 cases/100,000 inhab (2004) to 3927 cases/100,000 inhab (2013). Trend was the most important component for Recife, while seasonality was the most important one in Goiania. For Recife, the best fitted model was ARIMA (1,1,3)12 and for Goiania Seasonal ARIMA (1,0,2) (1,1,2)12. The model predicted 4254 dengue cases for Recife in 2015; SINAN registered 35,724 cases. For Goiania the model predicted 33,757 cases for 2015; the reported number of cases by SINAN was 74,095, within the 95% prediction interval. The difference between notified and forecasted dengue cases in Recife can be explained by the co-circulation of dengue and Zika virus in 2015. In this year, all cases with rash were notified as "dengue-like" illness. The ARIMA models may be considered a baseline for the time series analysis of dengue incidence before the Zika epidemic.
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Dengue/epidemiologia , Brasil/epidemiologia , Epidemias , Humanos , Incidência , Infecção por Zika virus/epidemiologiaRESUMO
Aim: to conduct a systematic literature review on dengue costs in Latin America, comparing study methodologies, disease costs and the economic impact of dengue in different countries. Methods: the literature search was carried out in the following electronic databases: MEDLINE/ PubMed, EMBASE and LILACS, for the period between 2004 and 2014. To make comparisons possible, the costs identified in the selected studies were converted to local currency values, adjusted to the consumer price index (2014) and converted to purchasing power parity (PPP). Results: 728 publications were identified in databases and 13 papers were selected for analysis. Nine of the thirteen studies were conducted from a societal perspective and three from a health system perspective. In most studies, indirect costs accounted for the largest percentage of total outpatient costs. In contrast, for hospitalized patients, direct medical costs showed the highest percentages. The economic impact of dengue was estimated at I$ 3.2 billion per year, ranging from I$ 1.4 to I$ 5.9 billion, when including the six sub-regions of the Americas. Conclusion: dengue represents a high cost for Latin American society and health system. Studies varied in terms of cost methodology (cost items included, such as direct medical and non-medical and indirect costs, and cost analysis) and the different epidemiological periods in which research was carried out (endemic and/or epidemic).
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Dengue , Economia e Organizações de Saúde , Revisão , Custos e Análise de Custo , América LatinaRESUMO
Introducción: La rama de genética de la Sociedad Chilena de Pediatría, en relación con el proyecto de ley que regula la despenalización de la interrupción voluntaria del embarazo en 3 causales, centrándose en la segunda causal que considera al «embrión o feto que padezca una alteración estructural congénita o genética incompatible con la vida extrauterina¼, se reunió para discutir conforme a la evidencia científica qué anomalías congénitas (AC) podrían ser incluidas en el proyecto de ley. Metodología: Los expertos en genética clínica se centraron en 10 AC. Se efectuó revisión bibliográfica y una reunión extraordinaria para discutirla. Resultados: Se acordó no emplear el término «incompatible con la vida extrauterina¼, pues existen excepciones de sobrevidas más prolongadas y cambiar por «anomalía congénita de mal pronóstico vital (ACMPV)¼. Se evaluaron 10 AC: defectos graves de cierre del tubo neural: anencefalia, iniencefalia y craneorraquisquisis, hipoplasia pulmonar, feto acardio, ectopia cordis, triploidía no mosaico, complejo limb body wall, anomalía body stalk, trisomía 13, trisomía 18 y agenesia renal bilateral. Se analizaron los hallazgos sobre prevalencia, historia natural, métodos diagnósticos prenatales, sobrevida, casos descritos de sobrevida prolongada. Para catalogarlas como ACMPV se consideraron: sobrevida posnatal, existencia de tratamientos y evolución posterior e historia natural sin intervenciones. Conclusión: Las ACMPV incluidas serían: anencefalia, hipoplasia pulmonar severa, feto acardio, ectopia cordis cervical, triploidía no mosaico, complejo limb body wall, anomalía body stalk, trisomía 13 no mosaico, trisomía 18 no mosaico y agenesia renal bilateral. Se requiere para el diagnóstico que toda mujer gestante tenga acceso a evaluaciones ecográficas de anatomía fetal, y en ocasiones a resonancia magnética y estudios citogenéticos y moleculares.
Introduction: The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law. Methodology: Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it. Results: It was agreed not to use the term "incompatible with life outside the womb", as there are exceptions and longer survivals, and change to "congenital anomaly of poor prognosis (CAPP)". Ten CA were evaluated: serious defects of neural tube closure: anencephaly, iniencephaly and craniorachischisis, pulmonary hypoplasia, acardiac foetus, ectopia cordis, non-mosaic triploidy, "limb body wall" complex, "body stalk" anomaly, trisomy 13, trisomy 18, and bilateral renal agenesis. Findings on the prevalence, natural history, prenatal diagnostic methods, survival, and reported cases of prolonged survival were analysed. Post-natal survival, existence of treatments, and outcomes, as well as natural history without intervention, were taken into account in classifying a CA as a CAPP. Conclusion: A CAPP would be: anencephaly, severe pulmonary hypoplasia, acardiac foetus, cervical ectopia cordis, non-mosaic triploidy, limb body wall complex, body stalk anomaly, non-mosaic trisomy 13, non-mosaic trisomy 18, and bilateral renal agenesis. For their diagnosis, it is required that all pregnant women have access to assessments by foetal anatomy ultrasound and occasionally MRI, and cytogenetic and molecular testing.
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Humanos , Feminino , Gravidez , Diagnóstico Pré-Natal/métodos , Anormalidades Congênitas/diagnóstico , Aborto Eugênico/legislação & jurisprudência , Prognóstico , Anormalidades Congênitas/fisiopatologia , Chile , Aborto Legal/legislação & jurisprudência , ConsensoRESUMO
INTRODUCTION: The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law. METHODOLOGY: Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it. RESULTS: It was agreed not to use the term "incompatible with life outside the womb", as there are exceptions and longer survivals, and change to "congenital anomaly of poor prognosis (CAPP)". Ten CA were evaluated: serious defects of neural tube closure: anencephaly, iniencephaly and craniorachischisis, pulmonary hypoplasia, acardiac foetus, ectopia cordis, non-mosaic triploidy, "limb body wall" complex, "body stalk" anomaly, trisomy 13, trisomy 18, and bilateral renal agenesis. Findings on the prevalence, natural history, prenatal diagnostic methods, survival, and reported cases of prolonged survival were analysed. Post-natal survival, existence of treatments, and outcomes, as well as natural history without intervention, were taken into account in classifying a CA as a CAPP. CONCLUSION: A CAPP would be: anencephaly, severe pulmonary hypoplasia, acardiac foetus, cervical ectopia cordis, non-mosaic triploidy, limb body wall complex, body stalk anomaly, non-mosaic trisomy 13, non-mosaic trisomy 18, and bilateral renal agenesis. For their diagnosis, it is required that all pregnant women have access to assessments by foetal anatomy ultrasound and occasionally MRI, and cytogenetic and molecular testing.
Assuntos
Aborto Eugênico/legislação & jurisprudência , Anormalidades Congênitas/diagnóstico , Diagnóstico Pré-Natal/métodos , Aborto Legal/legislação & jurisprudência , Chile , Anormalidades Congênitas/fisiopatologia , Consenso , Feminino , Humanos , Gravidez , PrognósticoRESUMO
BACKGROUND: Dengue is an increasing public health concern in Brazil. There is a need for an updated evaluation of the economic impact of dengue within the country. We undertook this multicenter study to evaluate the economic burden of dengue in Brazil. METHODS: We estimated the economic burden of dengue in Brazil for the years 2009 to 2013 and for the epidemic season of August 2012- September 2013. We conducted a multicenter cohort study across four endemic regions: Midwest, Goiania; Southeast, Belo Horizonte and Rio de Janeiro; Northeast: Teresina and Recife; and the North, Belem. Ambulatory or hospitalized cases with suspected or laboratory-confirmed dengue treated in both the private and public sectors were recruited. Interviews were scheduled for the convalescent period to ascertain characteristics of the dengue episode, date of first symptoms/signs and recovery, use of medical services, work/school absence, household spending (out-of-pocket expense) and income lost using a questionnaire developed for a previous cost study. We also extracted data from the patients' medical records for hospitalized cases. Overall costs per case and cumulative costs were calculated from the public payer and societal perspectives. National cost estimations took into account cases reported in the official notification system (SINAN) with adjustment for underreporting of cases. We applied a probabilistic sensitivity analysis using Monte Carlo simulations with 90% certainty levels (CL). RESULTS: We screened 2,223 cases, of which 2,035 (91.5%) symptomatic dengue cases were included in our study. The estimated cost for dengue for the epidemic season (2012-2013) in the societal perspective was US$ 468 million (90% CL: 349-590) or US$ 1,212 million (90% CL: 904-1,526) after adjusting for under-reporting. Considering the time series of dengue (2009-2013) the estimated cost of dengue varied from US$ 371 million (2009) to US$ 1,228 million (2013). CONCLUSIONS: The economic burden associated with dengue in Brazil is substantial with large variations in reported cases and consequently costs reflecting the dynamic of dengue transmission.
Assuntos
Efeitos Psicossociais da Doença , Dengue/economia , Absenteísmo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil/epidemiologia , Criança , Pré-Escolar , Dengue/epidemiologia , Feminino , Gastos em Saúde , Serviços de Saúde/estatística & dados numéricos , Humanos , Lactente , Entrevistas como Assunto , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto JovemRESUMO
In January 2000, Chilean Ministry of Health mandated the addition of folic acid (FA) to wheat flour in order to reduce the risk of neural tube defects (NTDs). This policy resulted in significant increases in serum and red cell folate in women of fertile age 1 year after fortification. To evaluate the effect of wheat flour fortification on the prevalence of NTDs in Chile we designed a prospective hospital-based surveillance program to monitor the frequency of NTDs in all births (live and stillbirths) with birth weight≥500 g at the nine public maternity hospitals of Santiago, Chile from 1999 to 2009. During the pre-fortification period (1999-2000) the NTD rate was 17.1/10,000 births in a total of 120,566 newborns. During the post-fortification period (2001-2009) the NTD rate decreased to 8.6/10,000 births in a total of 489,915 newborns, which translates into a rate reduction of 50% (RR: 0.5; 95% CI: 0.42-0.59) for all NTDs. The rate reduction by type of NTD studied was: 50% in anencephaly (RR: 0.5; 95% CI: 0.38-0.67), 42% in cephalocele (RR: 0.58; 95% CI: 0.37-0.89), and 52% in spina bifida (RR: 0.48; 95% CI: 0.38-0.6). Rates showed significant reduction both in stillbirths and live births: 510.3 to 183.6/10,000 (RR=0.36; 95% CI: 0.25-0.53) and 13.3 to 7.5/10,000 (RR=0.56; 95% CI: 0.47-0.68), respectively. In Chile, fortification of wheat flour with FA has proven to be an effective strategy for the primary prevention of NTDs.
Assuntos
Ácido Fólico/administração & dosagem , Alimentos Fortificados , Defeitos do Tubo Neural/prevenção & controle , Triticum , Chile/epidemiologia , Feminino , Ácido Fólico/química , Humanos , Defeitos do Tubo Neural/epidemiologia , Gravidez , PrevalênciaRESUMO
Background: Mental retardation or intellectual disability affects 2 percent ofthe general population, but in 60 percent to 70 percent of cases the real cause ofthis retardation is not known. An early etiologic diagnosis of intellectual disability can lead to opportunities for improved educational interventions, reinforcing weak aáreas and providing a genetic counseling to the family Aim: To search genetic diseases underíying intellectual disabilities of children attending a special education school. Material and methods: A clinical geneticist performed the history and physical examination in one hundred and three students aged between 5 and 24 years (51 males). A blood sample was obtained in 92 of them for a genetic screening that included a standard karyotype, fragile X molecular genetic testing and search for inborn errors of metabolism by tándem mass spectrometry. Results: This approach yielded an etiological diagnosis in as much as 29 patients. Three percent of them had a fragile X syndrome. Inborn errors of metabolism were not detected. Conclusions: This type of screening should be done always in children with intellectual disability to establish an etiological diagnosis.
Assuntos
Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Adulto Jovem , Análise Citogenética/métodos , Testes Genéticos/métodos , Deficiência Intelectual/genética , Mutação/genética , Educação Inclusiva , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/genética , Cariotipagem , Índice de Gravidade de Doença , Adulto JovemRESUMO
The Chilean Ministry of Health legislated to add folic acid (2.2 mg/100 g) to wheat flour to reduce the risk of neural tube defects (NTD), beginning in January 2000. This policy resulted in a significant increase in serum and red blood cell folate in women of childbearing age 1 year after fortification. The frequency of NTD was studied in all births, both live and stillbirths, in a prospective hospital-based design including 25% of national births during 1999-2000 (prefortification period) and 2001-2002 (postfortification period). During the prefortification period, there was a total of 120,566 newborns, and the NTD rate was 17.1/10,000 births. During the postfortification period (2001-2002) there was a total of 117,704 newborns, and the NTD rate was significantly reduced by 43% to 9.7/10,000 births (RR = 0.57; 95% CI, 0.45 to 0.71). This implies a reduction of 43% in the rate of NTD. The costs per NTD case and infant death averted were 1,200 international dollars (I$) and I$11,000, respectively. The cost per disability-adjusted life year (DALY) averted was I$91, or 0.8% of the country's per capita GDP. On the overall, fortification resulted in net cost savings of I$1.8 million. Fortification of wheat flour with folic acid has proven to be an effective and cost saving strategy for the primary prevention of NTD in a middle-income country in a postepidemiological transition, and in a dramatically short period of time.
Assuntos
Deficiência de Ácido Fólico/prevenção & controle , Ácido Fólico/administração & dosagem , Alimentos Fortificados , Defeitos do Tubo Neural/prevenção & controle , Avaliação de Programas e Projetos de Saúde , Chile/epidemiologia , Análise Custo-Benefício , Feminino , Ácido Fólico/efeitos adversos , Ácido Fólico/sangue , Deficiência de Ácido Fólico/epidemiologia , Alimentos Fortificados/economia , Humanos , Defeitos do Tubo Neural/epidemiologia , Anos de Vida Ajustados por Qualidade de VidaRESUMO
BACKGROUND: Mental retardation or intellectual disability affects 2% of the general population, but in 60% to 70% of cases the real cause of this retardation is not known. An early etiologic diagnosis of intellectual disability can lead to opportunities for improved educational interventions, reinforcing weak areas and providing a genetic counseling to the family. AIM: To search genetic diseases underlying intellectual disabilities of children attending a special education school. MATERIAL AND METHODS: A clinical geneticist performed the history and physical examination in one hundred and three students aged between 5 and 24 years (51 males). A blood sample was obtained in 92 of them for a genetic screening that included a standard karyotype, fragile X molecular genetic testing and search for inborn errors of metabolism by tandem mass spectrometry. RESULTS: This approach yielded an etiological diagnosis in as much as 29 patients. Three percent of them had a fragile X syndrome. Inborn errors of metabolism were not detected. CONCLUSIONS: This type of screening should be done always in children with intellectual disability to establish an etiological diagnosis.
Assuntos
Análise Citogenética/métodos , Testes Genéticos/métodos , Deficiência Intelectual/genética , Mutação/genética , Adolescente , Criança , Pré-Escolar , Educação Inclusiva , Feminino , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/genética , Humanos , Cariotipagem , Masculino , Índice de Gravidade de Doença , Adulto JovemRESUMO
OBJECTIVE: Periconceptional intake of folic acid reduces the risk of neural tube defects (NTDs), a frequent birth defect that can cause significant infant mortality and disability. In Chile, fortification of wheat flour with folic acid has resulted in significant reduction in the risk of anencephaly and spina bifida. We investigated the cost-effectiveness implications of this policy. METHODS: We conducted an ex-post economic analysis of this intervention. Estimates of the effect of fortification in decreasing NTDs and deaths were derived from a prospective evaluation. The costs of fortification and provision of medical care to children with spina bifida in Chile were based on primary data collection. FINDINGS: The intervention costs per NTD case and infant death averted were I$ 1200 and 11,000, respectively. The cost per DALY averted was I$ 89, 0.8% of Chile's GDP per capita. Taking into account averted costs of care, fortification resulted in net cost savings of I$ 2.3 million. CONCLUSION: Fortification of wheat flour with folic acid is a cost-effective intervention in Chile, a middle income country in the post-epidemiological transition. This result supports the continuation of the Chile fortification program and constitutes valuable information for policy makers in other countries to consider.