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Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature
(American Association for the Advancement of Science (AAAS), 2025-01-10)
Marita Bosticardo
;
Kerry Dobbs
;
Ottavia M. Delmonte
;
Andrew J. Martins
;
Francesca Pala
<jats:p> Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of <jats:italic>RAG</jats:italic> -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic <jats:italic>RAG</jats:italic> variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons. T helper 2 (T <jats:sub>H</jats:sub> 2) cell skewing and a prominent inflammatory signature characterize Omenn syndrome, whereas more hypomorphic forms of RAG deficiency are associated with a type 1 immune profile both in blood and tissues. We used cellular indexing of transcriptomes and epitopes by sequencing (CITE-seq) analysis to define the cell lineage–specific contribution to the immunopathology of the distinct RAG phenotypes. These insights may help improve the diagnosis and clinical management of the various forms of the disease. </jats:p>
Scopus© Citations 2 1
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The Latin American Society for Immunodeficiencies Registry
(2024)
Gisela Seminario
;
Maria Edith Gonzalez-Serrano
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Carolina Sanchez Aranda
;
Anete Sevciovic Grumach
;
Gesmar Rodrigues Silva Segundo
Scopus© Citations 1 3
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The socioeconomic distribution of life expectancy and healthy life expectancy in Chile
(2023)
Manuel Antonio Espinoza
;
Rodrigo Severino
;
Carlos Balmaceda
;
Tomas Abbott
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CABIESES VALDES, BALTICA BEATRIZ
<jats:title>Abstract</jats:title><jats:sec> <jats:title>Background</jats:title> <jats:p>Life expectancy (LE) has usually been used as a metric to monitor population health. In the last few years, metrics such as Quality-Adjusted-Life-Expectancy (QALE) and Health-Adjusted-Life- Expectancy (HALE) have gained popularity in health research, given their capacity to capture health related quality of life, providing a more comprehensive approach to the health concept. We aimed to estimate the distribution of the LE, QALEs and HALEs across Socioeconomic Status in the Chilean population.</jats:p> </jats:sec><jats:sec> <jats:title>Methods</jats:title> <jats:p>Based on life tables constructed using Chiang II´s method, we estimated the LE of the population in Chile by age strata. Probabilities of dying were estimated from mortality data obtained from national registries. Then, life tables were stratified into five socioeconomic quintiles, based on age-adjusted years of education (pre-school, early years to year 1, primary level, secondary level, technical or university). Quality weights (utilities) were estimated for age strata and SES, using the National Health Survey (ENS 2017). Utilities were calculated using the EQ-5D data of the ENS 2017 and the validated value set for Chile. We applied Sullivan´s method to adjust years lived and convert them into QALEs and HALEs.</jats:p> </jats:sec><jats:sec> <jats:title>Results</jats:title> <jats:p>LE at birth for Chile was estimated in 80.4 years, which is consistent with demographic national data. QALE and HALE at birth were 69.8 and 62.4 respectively. Men are expected to live 6.1% less than women. However, this trend is reversed when looking at QALEs and HALEs, indicating the concentration of higher morbidity in women compared to men. The distribution of all these metrics across SES showed a clear gradient in favour of a better-off population-based on education quintiles. The absolute and relative gaps between the lowest and highest quintile were 15.24 years and 1.21 for LE; 18.57 HALYs and 1.38 for HALEs; and 21.92 QALYs and 1.41 for QALEs. More pronounced gradients and higher gaps were observed at younger age intervals.</jats:p> </jats:sec><jats:sec> <jats:title>Conclusion</jats:title> <jats:p>The distribution of LE, QALE and HALEs in Chile shows a clear gradient favouring better-off populations that decreases over people´s lives. Differences in LE favouring women contrast with differences in HALEs and QALEs which favour men, suggesting the need of implementing gender-focused policies to address the case-mix complexity. The magnitude of inequalities is greater than in other high-income countries and can be explained by structural social inequalities and inequalities in access to healthcare.</jats:p> </jats:sec>
Scopus© Citations 1 7
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Desarrollo, antecedentes biológicos y características sociodemográficas en preescolares con y sin antecedentes de prematuridad
(2023)
B
;
COO CALCAGNI, SOLEDAD
<jats:p>El parto prematuro es la principal causa de mortalidad y morbilidad infantil en Chile. Sin embargo, existe poca información sobre las características particulares de los nacidos prematuros en etapa preescolar. Objetivo: Describir las características sociodemográficas, antecedentes biológicos y del desarrollo de los niños preescolares chilenos nacidos a término y pretérmino. Sujetos y Método: Análisis secundario de las bases de datos de la Encuesta Longitudinal de Primera Infancia (ELPI), año 2010. Se seleccionaron niños entre 2 y 4 años de edad con información sobre la edad gestacional al nacer. Se excluyeron los recién nacidos postérmino. La muestra incluyó a 8.571 niños, de los cuales el 9,78% eran prematuros. Se consideraron variables relacionadas con características sociodemográficas, factores de riesgo biológicos y desarrollo psicomotor. Se realizó un análisis descriptivo y de asociación (Chi-cuadrado) para establecer si las diferencias entre los grupos comparados eran significativas. Resultados: No se observaron diferencias en cuanto a la proporción de sexo, área geográfica de residencia y pronóstico de salud. La mayoría de los niños residían en el área metropolitana y central del país, y recibían atención en el sistema público de salud. Los prematuros residen, en mayor proporción, en áreas urbanas y tienen mayores factores de riesgo biológico. Además, los nacidos prematuros tienen puntajes promedio más bajos que los nacidos a término en todas las áreas de desarrollo. Conclusiones: La información presentada plantea la necesidad de analizar la interacción de la prematuridad con el riesgo social en el desarrollo de los prematuros de diferentes edades gestacionales.</jats:p>
Scopus© Citations 1 2
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Impact of front-of-pack labeling on food purchase pattern in Chile
(2021)
PINHEIRO FERNANDES, ANNA CHRISTINA
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QUINTILIANO SCARPELLI DOURADO , DAIANA APARECIDA
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Tatiana Gomes Ramires
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Jacqueline Alejandra Araneda Flores
8 1Scopus© Citations 17
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Global research priorities for COVID-19 in maternal, reproductive and child health: Results of an international survey
(2021)
Melanie Etti
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Jackeline Alger
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Sofía P. Salas
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Robin Saggers
;
Tanusha Ramdin
<jats:sec id="sec001"> <jats:title>Background</jats:title> <jats:p>The World Health Organization’s “<jats:italic>Coordinated Global Research Roadmap</jats:italic>: <jats:italic>2019 Novel Coronavirus</jats:italic>” outlined the need for research that focuses on the impact of COVID-19 on pregnant women and children. More than one year after the first reported case significant knowledge gaps remain, highlighting the need for a coordinated approach. To address this need, the Maternal, Newborn and Child Health Working Group (MNCH WG) of the COVID-19 Clinical Research Coalition conducted an international survey to identify global research priorities for COVID-19 in maternal, reproductive and child health.</jats:p> </jats:sec> <jats:sec id="sec002"> <jats:title>Method</jats:title> <jats:p>This project was undertaken using a modified Delphi method. An electronic questionnaire was disseminated to clinicians and researchers in three different languages (English, French and Spanish) via MNCH WG affiliated networks. Respondents were asked to select the five most urgent research priorities among a list of 17 identified by the MNCH WG. Analysis of questionnaire data was undertaken to identify key similarities and differences among respondents according to questionnaire language, location and specialty. Following elimination of the seven lowest ranking priorities, the questionnaire was recirculated to the original pool of respondents. Thematic analysis of final questionnaire data was undertaken by the MNCH WG from which four priority research themes emerged.</jats:p> </jats:sec> <jats:sec id="sec003"> <jats:title>Results</jats:title> <jats:p>Questionnaire 1 was completed by 225 respondents from 29 countries. Questionnaire 2 was returned by 49 respondents. The four priority research themes which emerged from the analysis were 1) access to healthcare during the COVID-19 pandemic, 2) the direct and 3) indirect effects of COVID-19 on pregnant and breastfeeding women and children and 4) the transmission of COVID-19 and protection from infection.</jats:p> </jats:sec> <jats:sec id="sec004"> <jats:title>Conclusion</jats:title> <jats:p>The results of these questionnaires indicated a high level of concordance among continents and specialties regarding priority research themes. This prioritized list of research uncertainties, developed to specifically highlight the most urgent clinical needs as perceived by healthcare professionals and researchers, could help funding organizations and researchers to answer the most pressing questions for clinicians and public health professionals during the pandemic. It is hoped that these identified priority research themes can help focus the discussion regarding the allocation of limited resources to enhance COVID-19 research in MNCH globally.</jats:p> </jats:sec>
3Scopus© Citations 8
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Variability in care for children with severe acute asthma in Latin America
(2020)
Nicolas Monteverde‐Fernandez
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Franco Diaz‐Rubio
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Pablo Vásquez‐Hoyos
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Alexandre T. Rotta
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Sebastián González‐Dambrauskas
12Scopus© Citations 5
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Helicobacter pylori, clinical, laboratory, and noninvasive biomarkers suggestive of gastric damage in healthy school-aged children: A case-control study
(2021)
Yalda Lucero
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Anne J. Lagomarcino
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Juan P. Torres
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ROESSLER VERGARA, PATRICIA ANDREA
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Nora Mamani
20 1Scopus© Citations 6
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Deficiencia de vitamina D y de hierro en niños y adolescentes con parálisis cerebral
(2021)
C. Le Roy
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S. Barja
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C. Sepúlveda
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M.L. Guzmán
;
M. Olivarez
14Scopus© Citations 16
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Rationale of Therapeutic Plasma Exchange as Rescue Immunomodulatory Treatment for MIS-C With Multiorgan Failure
(2021)
Franco Díaz
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Camila Cores
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Omar Atenas
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Nicolás Rodríguez
;
Raúl Bustos
3Scopus© Citations 3

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