Anomalías congénitas y comorbilidad en neonatos con Síndrome de Down / Congenital anomalies and comorbidities in neonates with Down Syndrome

INTRODUCCIÓN: El Síndrome de Down se presenta en 2,5 de 1.000 recién nacidos vivos chilenos. Presentan más anomalías congénitas y comorbilidades que la población general, aumentando su tasa de hospitalización. OBJETIVO: Describir las anomalías congénitas y comorbilidades de neonatos con Síndrome de Down nacidos y/u hospitalizados en la década 2008-2018. PACIENTES Y MÉTODO: Retrospectiva mente se revisaron registros de los pacientes nacidos y/u hospitalizados dentro de sus 28 días de vida entre el 1 de enero de 2008 y el 31 de diciembre de 2018. Para cada paciente se consignó: edad materna, antecedentes familiares de Síndrome de Down, antecedentes pre y perinatales y resultado de estudio genético. Se consignó la edad al ingreso, el motivo principal de ingreso, comorbilidades, días de hospitalización y fallecimiento. Se excluyeron dos pacientes con más del 50% de ficha in completa. Se exploraron asociaciones entre morbilidades, anomalías y fallecimiento. RESULTADOS: 140 de 79.506 (0,2%) recién nacidos vivos fueron diagnosticados con Síndrome de Down en el período neonatal. 24,7% fueron prematuros y 26,4% tuvieron bajo peso para su edad gestacional. Los porcentajes de morbilidad y hospitalización fueron 83,6% y 90%. La principal causa de ingreso fue la poliglobulia, y la más frecuente hiperbilirrubinemia. Fallecieron 4 pacientes (2,9%) y 70,7% presentó alguna una anomalía congénita, principalmente cardíaca. La mediana de edad materna fue de 36 años y 57,1% tenía 35 años o más. CONCLUSIONES: Esta investigación aporta información relevante para optimizar el manejo perinatal y el seguimiento de los pacientes con Síndrome de Down.

INTRODUCTION: In Chile, Down syndrome has a prevalence of 2.5 in 1,000 live births. These patients present more congenital anomalies and comorbidities than the general population, increasing their hospitaliza tion rate. OBJECTIVE: To describe congenital anomalies and comorbidities of neonates with Down syndrome born and/or hospitalized between 2008 and 2018. PATIENTS AND METHOD: We conducted a retrospective review of patient's medical records born and/or hospitalized during their first 28 days of life between January 1st, 2008, and December 31st, 2018. For each patient, we recorded maternal age, familiar cases of Down Syndrome, pre and perinatal history, genetic study result, as well as age at admission, reason for hospitalization, comorbidities, length of stay, and death. Two patients that had more than 50% of incomplete medical records were excluded. We studied the associations between comorbidities, congenital anomalies, and death. RESULTS: 140 in 79,506 newborns (0.2%) were diagnosed at our center with Down Syndrome in their neonatal period. 24.7% were born preterm and 26.4% had low birth weight for gestational age. Morbidities and hospitalizations were present in 83.6% and 90%, of the study population, respectively. The main reason for hospitalization was polycythemia and the most frequent was hyperbilirubinemia. Four patients died (2.9%) and 70.7% presented at least one congenital anomaly, mainly heart disease. Median maternal age was 36 years and 57.1% of mothers were aged 35 or older. CONCLUSIONS: This cohort of patients with Down Syndrome provides important information for the optimization of their perinatal management and follow-up.

Severe acute respiratory infections (SARI) from influenza in adult patients in Chile: the experience of a sentinel hospital / La infección respiratoria aguda grave asociada a la gripe en pacientes adultos en Chile: experiencia de un hospital centinela / Infecção respiratória aguda grave (SARI) decorrente da influenza em pacientes adultos no Chile: experiência de um hospital-sentinela

ABSTRACT Objective To 1) describe clinical characteristics of adult patients in Chile with severe acute respiratory infections (SARI) associated with influenza viruses, and 2) analyze virus subtypes identified in specimens collected from those patients, hospital resources used in clinical management, clinical evolution, and risk factors associated with a fatal outcome, using observational data from the SARI surveillance network (SARInet). Methods Adults hospitalized from 1 July 2011 to 31 December 2015 with influenza-associated SARI at a SARI sentinel surveillance hospital in Santiago were identified and the presence of influenza in all cases confirmed by reverse transcription polymerase chain reaction (RT-PCR), using respiratory samples. Results A total of 221 patients (mean age: 74.1 years) were hospitalized with influenza-associated SARI during the study period. Of this study cohort, 91.4% had risk factors for complications and 34.3% had been vaccinated during the most recent campaign. Pneumonia was the most frequent clinical manifestation, occurring in 57.0% of the cohort; other manifestations included influenza-like illness, exacerbated chronic bronchitis, decompensated heart failure, and asthmatic crisis. Cases occurred year-round, with an epidemic peak during autumn-winter. Both influenza A (H1N1pdm09 and H3N2) and B virus co-circulated. Critical care beds were required for 26.7% of the cohort, and 19.5% needed ventilatory assistance. Multivariate analysis identified four significant factors associated with in-hospital mortality: 1) being bedridden (adjusted odds ratio (aOR): 22.3; 95% confidence interval (CI): 3.0-164); 2) admission to critical care unit (aOR: 8.9; CI: 1.44-55); 3) Pa02/Fi02 ratio < 250 (aOR: 5.8; CI: 1.02-33); and 4) increased serum creatinine concentration (> 1 mg/dL) (aOR: 5.47; CI: 1.20-24). Seasonal influenza vaccine was identified as a significant protective factor (aOR: 0.14; CI: 0.021-0.90). Conclusions Influenza-associated SARI affected mainly elderly patients with underlying conditions. Most patients evolved to respiratory failure and more than one-quarter required critical care beds. Clinical presentation was variable. Death was associated with host characteristics and disease-associated conditions, and vaccine was protective. Virus type did not influence outcome.

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RESUMO Objetivo Descrever as características clínicas de pacientes adultos com infecção respiratória aguda grave (SARI) associada ao vírus da influenza e analisar os subtipos virais identificados em amostras coletadas destes pacientes, os recursos hospitalares empregados no tratamento clínico, a evolução clínica e os fatores de risco clínicos associados a um desfecho fatal, a partir de dados observacionais da rede de vigilância de SARI (SARInet) no Chile. Métodos Foram identificados os adultos hospitalizados com SARI associada a influenza em um hospital-sentinela de vigilância de SARI, em Santiago, de 1o de julho de 2011 a 31 de dezembro de 2015. A ocorrência de influenza foi confirmada em amostras respiratórias em todos os casos com a reação em cadeia da polimerase via transcriptase reversa (RT-RCP). Resultados Ao todo, 221 pacientes (idade média de 74,1 anos) foram hospitalizados com SARI associada a influenza no período de estudo. Nesta coorte, 91,4% apresentavam fatores de risco para complicação e 34,3% haviam sido vacinados na última campanha de vacinação. Pneumonia foi a manifestação clínica mais frequente, ocorrendo em 57,0% da coorte. Outras manifestações foram doença gripal, bronquite crônica exacerbada, insuficiência cardíaca descompensada e crise asmática. Os casos estiveram distribuídos ao longo do ano, com pico epidêmico no outono-inverno. Houve circulação simultânea dos vírus da influenza A (H1N1pdm09 e H3N2) e B. Leitos de terapia intensiva foram necessários em 26,7% da coorte e suporte ventilatório, em 19,5%. Na análise multivariada, quatro fatores importantes associados à mortalidade hospitalar foram identificados: estar restrito ao leito (odds ratio ajustado [ORaj] 22.3; intervalo de confiança de 95% [IC 95%] 3.0-164); ser admitido na unidade de terapia intensiva (ORaj 8.9, IC 95% 1.4 4-55); relação Pa02/Fi02 <250 (ORaj 5.8; IC 95% 1.02-33) e aumento da creatinina sérica (>1 mg/dl) (ORaj 5.47; IC 95% 1.20-24). A vacinação sazonal contra influenza foi identificada como importante fator de proteção (ORaj 0.14; IC 95% 0.021-0.90). Conclusões A SARI associada a influenza acometeu sobretudo pacientes idosos com doenças preexistentes. A maioria dos pacientes evoluiu com insuficiência respiratória e mais de um quarto precisou de cuidados intensivos. O quadro clínico foi variável. Morte foi associada às características do hospedeiro e problemas relacionados à doença. A vacinação teve efeito protetor e o tipo viral não influiu no desfecho.