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    Recomendaciones para el uso de terapia génica y modificadora de enfermedad en niños, niñas y adolescentes con Atrofia Muscular Espinal
    (Sociedad Chilena de Pediatria, 2025-02-18)
    Daniela Avila-Smirnow
    ;
    Claudia Amarales Osorio
    ;
    María de los Ángeles Beytía Reyes
    ;
    Rocío Cortés Zepeda
    ;
    Ricardo Erazo Torricelli
    La Atrofia Muscular Espinal (AME) es una grave enfermedad neurológica autosómica recesiva (1-2/100,000 personas). Se clasifica en tres tipos según la edad de inicio y los hitos motores alcanzados. Es causada por variantes patogénicas en el gen Survival of Motor Neuron 1 (SMN1), y modificada por el número de copias del gen SMN2. Existen tres fármacos modificadores de la historia natural de la enfermedad, aprobados por entes reguladores: nusinersen, risdiplam y onasemnogene abeparvovec.Objetivo: Establecer recomendaciones para el uso de terapia génica y modificadora de enfermedad para AME.Método: Un panel de 9 neurólogos pediátricos expertos revisó la evidencia disponible y consensuó recomendaciones para el uso de estos fármacos en pacientes con AME.Resultados: Se revisaron 21 estudios. Todos los pacientes mantuvieron el estándar de cuidado respiratorio y nutricional. Las tres terapias se asociaron a un mejor pronóstico motor, ventilatorio y sobrevida comparados con placebo o con la historia natural de la enfermedad en pacientes presintomáticos (2-3 copias de SMN2), con AME I (<6 meses y sin ventilación mecánica permanente (VMP)), AME II y III (sin VMP). No se encontraron estudios de alta calidad que demuestren la eficacia de las terapias combinadas, en etapas avanzadas de la enfermedad ni con 0-1 copia de SMN2.Conclusiones: Se recomienda el uso de los tres fármacos en pacientes presintomáticos, con AME I < 6 meses, AME II y AME III, excepto en aquellos con VMP, etapas avanzadas o 0-1 copias de SMN2. El uso de estos fármacos en pacientes que no cumplan estos criterios debe ser evaluado individualmente por expertos.
      6
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    Six-month post-intensive care outcomes during high and low bed occupancy due to the COVID-19 pandemic: A multicenter prospective cohort study
    (2023)
    CASTRO AVILA, ANA CRISTINA  
    ;
    Catalina Merino-Osorio
    ;
    GONZALEZ SEGUEL, FELIPE ANDRES  
    ;
    CAMUS MOLINA, AGUSTIN  
    ;
    Felipe Muñoz-Muñoz
    <jats:sec id="sec001"> <jats:title>Introduction</jats:title> <jats:p>The COVID-19 pandemic can be seen as a natural experiment to test how bed occupancy affects post-intensive care unit (ICU) patient’s functional outcomes. To compare by bed occupancy the frequency of mental, physical, and cognitive impairments in patients admitted to ICU during the COVID-19 pandemic.</jats:p> </jats:sec> <jats:sec id="sec002"> <jats:title>Methods</jats:title> <jats:p>Prospective cohort of adults mechanically ventilated &gt;48 hours in 19 ICUs from seven Chilean public and private hospitals. Ninety percent of nationwide beds occupied was the cut-off for low versus high bed occupancy. At ICU discharge, 3- and 6-month follow-up, we assessed disability using the World Health Organization Disability Assessment Schedule 2.0. Quality of life, mental, physical, and cognitive outcomes were also evaluated following the core outcome set for acute respiratory failure.</jats:p> </jats:sec> <jats:sec id="sec003"> <jats:title>Results</jats:title> <jats:p>We enrolled 252 participants, 103 (41%) during low and 149 (59%) during high bed occupancy. Patients treated during high occupancy were younger (P<jats:sub>50</jats:sub> [P<jats:sub>25</jats:sub>-P<jats:sub>75</jats:sub>]: 55 [44–63] vs 61 [51–71]; p&lt;0.001), more likely to be admitted due to COVID-19 (126 [85%] vs 65 [63%]; p&lt;0.001), and have higher education qualification (94 [63%] vs 48 [47%]; p = 0.03). No differences were found in the frequency of at least one mental, physical or cognitive impairment by bed occupancy at ICU discharge (low vs high: 93% vs 91%; p = 0.6), 3-month (74% vs 63%; p = 0.2) and 6-month (57% vs 57%; p = 0.9) follow-up.</jats:p> </jats:sec> <jats:sec id="sec004"> <jats:title>Conclusions</jats:title> <jats:p>There were no differences in post-ICU outcomes between high and low bed occupancy. Most patients (&gt;90%) had at least one mental, physical or cognitive impairment at ICU discharge, which remained high at 6-month follow-up (57%).</jats:p> </jats:sec> <jats:sec id="sec005"> <jats:title>Clinical trial registration</jats:title> <jats:p><jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="uri" xlink:href="https://clinicaltrials.gov/ct2/show/NCT04979897" xlink:type="simple">NCT04979897</jats:ext-link> (clinicaltrials.gov).</jats:p> </jats:sec>
      3Scopus© Citations 3
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      4Scopus© Citations 3
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    Driving Pressure and Normalized Energy Transmission Calculations in Mechanically Ventilated Children Without Lung Disease and Pediatric Acute Respiratory Distress Syndrome*
    (2021)
    Franco Díaz
    ;
    Sebastián González-Dambrauskas
    ;
    Federico Cristiani
    ;
    Daniel R. Casanova
    ;
    Pablo Cruces
    Scopus© Citations 21  15
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    Scopus© Citations 11  1
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    Successful use of mild therapeutic hypothermia as compassionate treatment for severe refractory hypoxemia in COVID-19
    (2021)
    Pablo Cruces
    ;
    Camila Cores
    ;
    Daniel Casanova
    ;
    Federico Pizarro
    ;
    Franco Díaz
      2Scopus© Citations 13
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    Adverse Events of Prone Positioning in Mechanically Ventilated Adults With ARDS
    (2021)
    Felipe González-Seguel
    ;
    Juan José Pinto-Concha
    ;
    Nadine Aranis
    ;
    LEPPE ZAMORA, JAIME ESTEBAN  
      6Scopus© Citations 30
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    Terapia mínimamente invasiva para el manejo de un hematoma subcapsular hepático en un recién nacido
    (2021)
    María Santos C.
    ;
    Gian Paolo Zamboni T.
    ;
    Daniel Hasson
    ;
    Marina Poblete S.
    ;
    Patricio Vargas H.
    <jats:p>Objetivo: Describir una alternativa innovadora a la laparotomía exploradora en un recién nacido con un hematoma hepático subcapsular secundario a la inserción de un catéter venoso umbilical.Caso Clínico: Paciente de pretérmino con antecedentes de enfermedad de membrana hialina, hipertensión pulmonar y ductus arterioso persistente amplio, que requirió ventilación mecánica y uso de drogas vasoactivas. Se instalaron catéteres umbilicales, fueron controlados con radiografía de abdomen anteroposterior, en la que impresionaron estar adecuadamente posicionados. Evolucionó con mayor requerimiento de drogas vasoactivas, palidez de pared abdominal y distensión abdominal. Bajo ecografía se diagnosticó un hematoma hepático subcapsular contenido, sin signos de sangrado activo, por lo que se decidió conducta expectante. Aumentó requerimiento de drogas vasoactivas y presentó caída de hematocrito. La ecografía de control encontró un hematoma subcapsular de mayor tamaño, abundante liquido perihepático y se confirmó la posición intraparenquimatosa de la punta del catéter umbilical. Se realizó embolización endovascular a través del catéter umbilical con Gelita®, logrando oclusión del trayecto capsular. La ecografía de control mostró disminución del hematoma.Conclusiones: El uso de embolización por angiografía no es comúnmente utilizado en urgencias pediátricas. Es un procedimiento con menos comorbilidades y complicaciones que la laparotomía exploradora, por lo que debería ser una terapia de primera línea en pacientes como el presentado. Las limitaciones para su realización rutinaria son la disponibilidad de pabellón de angiografía y la presencia de un equipo entrenado de radiología intervencionista.</jats:p>
    Scopus© Citations 1  1
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    Adverse maternal, fetal, and newborn outcomes among pregnant women with SARS-CoV-2 infection: an individual participant data meta-analysis
    (2023)
    Emily R Smith
    ;
    Erin Oakley
    ;
    Gargi Wable Grandner
    ;
    Kacey Ferguson
    ;
    Fouzia Farooq
    <jats:sec><jats:title>Introduction</jats:title><jats:p>Despite a growing body of research on the risks of SARS-CoV-2 infection during pregnancy, there is continued controversy given heterogeneity in the quality and design of published studies.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We screened ongoing studies in our sequential, prospective meta-analysis. We pooled individual participant data to estimate the absolute and relative risk (RR) of adverse outcomes among pregnant women with SARS-CoV-2 infection, compared with confirmed negative pregnancies. We evaluated the risk of bias using a modified Newcastle-Ottawa Scale.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>We screened 137 studies and included 12 studies in 12 countries involving 13 136 pregnant women.</jats:p><jats:p>Pregnant women with SARS-CoV-2 infection—as compared with uninfected pregnant women—were at significantly increased risk of maternal mortality (10 studies; n=1490; RR 7.68, 95% CI 1.70 to 34.61); admission to intensive care unit (8 studies; n=6660; RR 3.81, 95% CI 2.03 to 7.17); receiving mechanical ventilation (7 studies; n=4887; RR 15.23, 95% CI 4.32 to 53.71); receiving any critical care (7 studies; n=4735; RR 5.48, 95% CI 2.57 to 11.72); and being diagnosed with pneumonia (6 studies; n=4573; RR 23.46, 95% CI 3.03 to 181.39) and thromboembolic disease (8 studies; n=5146; RR 5.50, 95% CI 1.12 to 27.12).</jats:p><jats:p>Neonates born to women with SARS-CoV-2 infection were more likely to be admitted to a neonatal care unit after birth (7 studies; n=7637; RR 1.86, 95% CI 1.12 to 3.08); be born preterm (7 studies; n=6233; RR 1.71, 95% CI 1.28 to 2.29) or moderately preterm (7 studies; n=6071; RR 2.92, 95% CI 1.88 to 4.54); and to be born low birth weight (12 studies; n=11 930; RR 1.19, 95% CI 1.02 to 1.40). Infection was not linked to stillbirth. Studies were generally at low or moderate risk of bias.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>This analysis indicates that SARS-CoV-2 infection at any time during pregnancy increases the risk of maternal death, severe maternal morbidities and neonatal morbidity, but not stillbirth or intrauterine growth restriction. As more data become available, we will update these findings per the published protocol.</jats:p></jats:sec>
      7Scopus© Citations 143
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      6Scopus© Citations 113