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Background: Common variable immunodeficiency (CVID) is the most common symptomatic syndrome among inborn errors of immunity. Although several aspects of CVID immunopathology have been elucidated, predictive factors for mortality are incompletely defined. A genetic cause can be identified only in approximately 30% of patients. Objective: We sought to develop a mortality predictive score on the basis of the immunophenotypes and genotypes of patients with CVID. Methods: Twenty-one patients diagnosed with CVID in Córdoba, Argentina, were analyzed for clinical and laboratory data. Immunophenotyping was done by flow cytometry. CVID-associated mutations were identified by whole-exome sequencing. Results: Alive (15) and deceased (6) patients were compared. Univariate analysis showed significant differences in CD4+ T cells (P = .002), natural killer (NK) cells (P = .001), and memory switched B cells (P = .001) between groups. Logistic regression analysis showed a negative correlation between CD4+, NK, and memory switched B-cell counts and probability of survival over a 10-year period (CD4+ T cells: odds ratio [OR], 1.01; 95% CI, 1.001-1.020; NK cells: OR, 1.07; 95% CI, 1.02-1.17; and memory switched B cells: OR, 26.23; 95% CI, 2.06-2651.96). Receiver-operating characteristic curve analysis identified a survival cutoff point for each parameter (CD4+ T cells: 546 cells/mL; AUC, 0.87; sensitivity, 60%; specificity, 100%; memory switched B cells: 0.84 cells/mL; AUC, 0.92; sensitivity, 100%; specificity, 85%; and NK cells: 45 cells/mL; AUC, 0.92; sensitivity, 83%; specificity, 100%). Genetic analysis on 14 (9 female and 5 male) patients from the cohort revealed mutations associated with inborn errors of immunity in 6 patients. Conclusions: A score to predict mortality is proposed on the basis of CD4+ T, NK, and memory switched B-cell counts in patients with CVID.
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BACKGROUND & AIMS: In children with Cerebral palsy (CP) bone deformities create a difficulty in the collection of height measures by direct methods. Body segments are an alternative to study for anthropometric evaluation in children with CP. Motor compromise affects growth in these children. To our knowledge, no equations have been developed to estimate height that consider the level of involvement of children with CP. The aim was to develop equations to estimate height using segmental measures for children with cerebral palsy (CP). METHODS: This was a cross-sectional study. The sample consisted of children and adolescents with CP of both sexes from 2 to 19 years old from five cities in Argentina. Children whose height and knee-heel height (KH) could be measured were included. Height, KH, and clinical covariables were collected. Linear regression models with height as the dependent variable and KH as predictors adjusted for significant covariates were developed and compared for R2, adjusted R2, and the root mean square of the error. RESULTS: 242 children and adolescents (mean age 9 ± 4 years) with a confirmed diagnosis of CP were included. The interaction between height and other variables such KH, sex, GMFCS, and age was analyzed. Two equations were developed to estimate height according to GMFCS level (GMFCS Level I-III: H = 1.5 × KH(cm) + 2.28 × age(years) + 51; GMFCS Level IV-V: H = 2.13 × KH (cm)+ 0.91 × age(years) + 37). The concordance correlation coefficient between estimated and observed height was 0.95 (95%CI [0.94; 0.96]). CONCLUSION: Height in children and adolescents with CP can be predicted using KH, GMFCS, and age. The equations and software can estimate height when this cannot be obtained directly.
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Estatura , Paralisia Cerebral , Humanos , Paralisia Cerebral/fisiopatologia , Adolescente , Feminino , Criança , Masculino , Estudos Transversais , Pré-Escolar , Software , Antropometria , Argentina , Adulto Jovem , Modelos LinearesRESUMO
Introducción. Durante la infancia, los niños pueden experimentar algún grado de dificultad al comer. Existe una herramienta, desarrollada en Estados Unidos, de evaluación de la alimentación pediátrica (PediEAT), que permite identificar síntomas problemáticos. Objetivo. Realizar una adaptación transcultural para una versión argentina, con adecuación cultural y equivalencia semántica respecto a su versión original. Población y métodos. Se utilizó una versión autoadministrada del PediEAT que fue respondida por familias y/o cuidadores de niños de 6 meses a 7 años. Se realizó una primera fase de evaluación de validez del contenido con un grupo de expertos. Luego, una fase de pretest con familias mediante entrevistas cognitivas para comprobar la comprensión de las palabras y frases. Se realizaron las modificaciones necesarias para que quedara adaptada al contexto. Resultados. En la fase de evaluación de validez del contenido con el grupo de 8 expertos, de los 80 ítems se modificaron 36. En el pretest, se realizaron entrevistas cognitivas a 18 cuidadores; se realizaron cambios en 11 ítems para mejorar la comprensión por parte de la población argentina. La versión argentina fue aprobada por los autores originales. Conclusiones. El instrumento PediEAT versión argentina resulta lingüísticamente equivalente a su versión original, lo que permite su uso para la detección de problemáticas alimentarias en niños.
Introduction. During childhood, children may experience some degree of difficulty eating. A tool (PediEAT) has been developed in the United States and is available to assess pediatric eating and to identify problematic symptoms. Objective. To obtain an Argentine version that is transculturally adapted, culturally adequate, and semantically equivalent to the original version. Population and methods. A self-administered version of the PediEAT was used and completed by families and/or caregivers of children aged 6 months to 7 years. In the first phase, content validity was assessed by a group of experts. This was followed by a pre-test phase with families using cognitive interviews to test word and phrase comprehension. The necessary changes were made to obtain a version adapted to the context. Results. The tool's content validity was assessed by a group of 8 experts; as a result, 36 of the 80 items were changed. During the pre-test phase, cognitive interviews were conducted with 18 caregivers; 11 items were changed to improve comprehension by the Argentine population. The Argentine version was approved by the original authors. Conclusions. The Argentine version of the PediEAT tool is linguistically equivalent to the original version, and this allows its use to screen for feeding problems in children.
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Humanos , Lactente , Pré-Escolar , Criança , Transtornos de Alimentação na Infância , Nutrição da Criança , Psicometria/estatística & dados numéricos , Inquéritos e Questionários , Reprodutibilidade dos Testes , CuidadoresRESUMO
Cerebral palsy (CP) affects body posture and movement coordination and is the most common cause of severe disability in the pediatric population. The diagnosis of CP is not a description of a person's functioning or interaction with their environment. Therefore, the diagnosis should be complemented with a description of functioning, using tools based on the biopsychosocial model proposed by the World Health Organization's International Classification of Functioning, Disability and Health (ICF). This report describes the preliminary data from a multicenter study conducted in Argentina with the aim of standardizing the description of the profiles of functioning of children and adolescents with CP. These data showed that the participants had some skills in sleep functions, mental functions of language, seeing functions, and in some environmental factors. They showed significant difficulties in categories such as maintaining body position, walking, and toileting.
La parálisis cerebral (PC) afecta la postura y la coordinación del movimiento, y es la causa más común de discapacidad grave en la población pediátrica. El diagnóstico de PC no describe el funcionamiento ni la interacción de la persona con el contexto en el cual se desarrolla. Por lo tanto, el diagnóstico se debe complementar con una descripción del funcionamiento, utilizando herramientas basadas en el modelo biopsicosocial de la Clasificación del Funcionamiento (CIF) de la Organización Mundial de la Salud (OMS). En esta comunicación, describimos los datos preliminares de un estudio multicéntrico en Argentina destinado a estandarizar la descripción del perfil de funcionamiento en niños y adolescentes con PC. Estos datos mostraron que los participantes tienen algunas habilidades en las funciones del sueño, las funciones mentales del lenguaje y las visuales, así como en algunas relacionadas con el contexto. Presentan dificultades importantes en categorías tales como mantener la posición del cuerpo, el andar y la higiene.
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Paralisia Cerebral , Paralisia Cerebral/fisiopatologia , Paralisia Cerebral/diagnóstico , Humanos , Argentina , Criança , Masculino , Adolescente , Feminino , Pré-Escolar , Avaliação da DeficiênciaRESUMO
Introduction. During childhood, children may experience some degree of difficulty eating. A tool (PediEAT) has been developed in the United States and is available to assess pediatric eating and to identify problematic symptoms. Objective. To obtain an Argentine version that is transculturally adapted, culturally adequate, and semantically equivalent to the original version. Population and methods. A self-administered version of the PediEAT was used and completed by families and/or caregivers of children aged 6 months to 7 years. In the first phase, content validity was assessed by a group of experts. This was followed by a pre-test phase with families using cognitive interviews to test word and phrase comprehension. The necessary changes were made to obtain a version adapted to the context. Results. The tool's content validity was assessed by a group of 8 experts; as a result, 36 of the 80 items were changed. During the pre-test phase, cognitive interviews were conducted with 18 caregivers; 11 items were changed to improve comprehension by the Argentine population. The Argentine version was approved by the original authors. Conclusions. The Argentine version of the PediEAT tool is linguistically equivalent to the original version, and this allows its use to screen for feeding problems in children.
Introducción. Durante la infancia, los niños pueden experimentar algún grado de dificultad al comer. Existe una herramienta, desarrollada en Estados Unidos, de evaluación de la alimentación pediátrica (PediEAT), que permite identificar síntomas problemáticos. Objetivo. Realizar una adaptación transcultural para una versión argentina, con adecuación cultural y equivalencia semántica respecto a su versión original. Población y métodos. Se utilizó una versión autoadministrada del PediEAT que fue respondida por familias y/o cuidadores de niños de 6 meses a 7 años. Se realizó una primera fase de evaluación de validez del contenido con un grupo de expertos. Luego, una fase de pretest con familias mediante entrevistas cognitivas para comprobar la comprensión de las palabras y frases. Se realizaron las modificaciones necesarias para que quedara adaptada al contexto. Resultados. En la fase de evaluación de validez del contenido con el grupo de 8 expertos, de los 80 ítems se modificaron 36. En el pretest, se realizaron entrevistas cognitivas a 18 cuidadores; se realizaron cambios en 11 ítems para mejorar la comprensión por parte de la población argentina. La versión argentina fue aprobada por los autores originales. Conclusiones. El instrumento PediEAT versión argentina resulta lingüísticamente equivalente a su versión original, lo que permite su uso para la detección de problemáticas alimentarias en niños.
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Cuidadores , Humanos , Criança , Estados Unidos , Inquéritos e Questionários , Reprodutibilidade dos TestesRESUMO
INTRODUCTION: Cerebral palsy (CP) is one of the leading causes of childhood disability globally with a high burden in low-income and middle-income countries (LMICs). Preliminary findings from the global LMIC CP Register (GLM CPR) suggest that the majority of CP in LMICs are due to potentially preventable causes. Such data are lacking in the Latin American region. Generating comparable epidemiological data on CP from this region could enable translational research and services towards early diagnosis and early intervention. We aim to establish a Latin American multicountry network and online data repository of CP called Latin American Cerebral Palsy Register (LATAM-CPR). METHODS AND ANALYSIS: The LATAM-CPR will be modelled after the GLM CPR and will support new and emerging Latin American CP registers following a harmonised protocol adapted from the GLM CPR and piloted in Argentina (ie, Argentine Register of Cerebral Palsy). Both population-based and institution-based surveillance mechanisms will be adopted for registration of children with CP aged less than 18 years to the participating CP registers. The data collection form of the LATAM-CPR will include risk factors, clinical profile, rehabilitation, socioeconomical status of children with CP. Descriptive data on the epidemiology of CP from each participating country will be reported, country-specific and regional data will be compared. ETHICS AND DISSEMINATION: Individual CP registers have applied ethics approval from respective national human research ethics committees (HREC) and/or institutional review boards prior to the establishment and inclusion into the LATAM-CPR. Ethical approval for LATAM-CPR has already been obtained from the HREC in the two countries that started (Argentina and Mexico). Findings will be disseminated and will be made publicly available through peer-reviewed publications, conference presentations and social media communications.
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Paralisia Cerebral , Pessoas com Deficiência , Criança , Humanos , América Latina/epidemiologia , Paralisia Cerebral/reabilitação , Coleta de Dados , Países em DesenvolvimentoRESUMO
Introduction: Motor compromise characterizes cerebral palsy (CP), and is often associated with intellectual disability (ID). Standardized classification systems have been developed to describe the functions of people with CP. The aim was to functionally characterize children and adolescents aged 0 to 18 years with CP in Argentina and to investigate the association between motor compromise (GMFCS), ID and functional classifications. Methods: Cross-sectional study. Data were collected through family interviews and medical records review. Individuals with CP were included. Data were collected from 19 institutions in different cities of Argentina. Fisher's test and odds ratio [IC95%] were used for data analysis, with significance <0.05. Results: 182 children and adolescents with CP participated. According to GMFCS classification, level V prevailed with 36.3%. Those with more severe motor compromise (GMFCS IV-V) were 72 [25.4;206.0] times and 13 [5.9;28.2] times more likely to present a severe level of MACS and CFCS, respectively. But they were 34 [7.9;146.0] times more likely to have a mild to moderate level of EDACS. Those with DI were 10 [5.1;20.5] times more likely to have severe GMFCS, 6 [3.4;13.2] times more likely to have severe MACS and 4 [2.0;7.8] times more likely to have severe CFCS. On the contrary, they are 4 [1.9;9.5] times more likely to present a mild-moderate EDACS level. Conclusion: the level of GMFCS and the presence of DI influence general functionality and increase severity in engagement, manual and communication skills.
Introducción: El compromiso motor caracteriza la parálisis cerebral (PC), y suele asociarse a la discapacidad intelectual (DI). Se han desarrollado sistemas de clasificación estandarizados para describir las funciones de personas con PC. Objetivo: caracterizar funcionalmente a niños, niñas y adolescentes de 0 a 18 años con PC de Argentina e indagar la asociación entre el compromiso motor (GMFCS), la DI y las clasificaciones funcionales. Métodos: Estudio transversal. Se recolectaron datos a través de entrevistas a las familias y revisión de historias clínicas. Se incluyeron personas con PC. Los datos se recolectaron de 19 instituciones de distintas ciudades de Argentina. Resultados: participaron 182 niños, niñas y adolescentes con PC. Según clasificación GMFCS prevaleció el nivel V con 36,3%. Quienes presentan compromiso motor más severo (GMFCS IV-V), tienen 72 [25,4;206,0] veces y 13 [5,9;28,2] veces más chances de presentar un nivel severo de MACS y CFCS respectivamente. Pero, presentaron 34 [7,9;146,0] veces más chances de un nivel leve a moderado de EDACS. Quienes presentaron DI tuvieron 10 [5,1;20,5] veces más chances de presentar un nivel severo GMFCS, 6 [3,4;13,2] veces más chances un nivel severo MACS y 4 [2,0;7,8] veces más chances de un nivel severo CFCS. Por el contrario, tienen 4 [1,9;9,5] veces más chances de presentar un nivel leve-moderado EDACS. Conclusión: el nivel de GMFCS y la presencia de DI influyen en la funcionalidad general y aumentan la severidad en el compromiso, habilidades manuales y de comunicación.
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Paralisia Cerebral , Deficiência Intelectual , Transtornos Motores , Criança , Humanos , Adolescente , Argentina , Atividades CotidianasRESUMO
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Introduction: The clinical presentation of acute appendicitis in infants and young children is nonspecific. The diagnosis is often delayed and is accompanied by high rates of appendiceal perforation. The aim of the present study was to develop an early diagnostic scale for acute appendicitis in children less than 4 years of age. Results: The scale had a high discrimination index area under the ROC curve of 0.96 (95%CI 0.88-0.99), sensitivity of 95.1% (95%CI 86.3-99.0%), specificity of 90.0% (95%CI 55.7-89.5%), positive predictive value of 98.3% (95%CI 90.0-99.7%) and negative predictive value of 75.0% (95%CI 49.4-90.2). Conclusions: In this study, a risk score based on characteristics of children less than 4 years with abdominal pain was developed that may help predict a patient's risk of developing acute appendicitis. Patients and methods: 100 children less than 4 years of age with a presumptive diagnosis of acute appendicitis were retrospectively evaluated in 4 hospitals. The case group comprised 90 patients with histopathological diagnosis of positive appendicitis (with inflammation in the appendiceal wall) while the control group comprised 10 patients with a histopathological diagnosis of negative appendicitis (without inflammation). Epidemiological, clinical, laboratory, and ultrasound variables were screened using Least Absolute Shrinkage and Selection Operator (LASSO) and logistic regression to construct a predictive risk score. Accuracy of the score was measured by the area under the receiver operating characteristic curve. Final model comprised 4 variables (Blumberg's sign, C-reactive protein, neutrophil-lymphocyte index and positive ultrasound). Results: The scale had a high discrimination index area under the ROC curve of 0.96 (95%CI 0.88-0.99), sensitivity of 95.1% (95%CI 86.3-99.0%), specificity of 90.0% (95%CI 55.7-89.5%), positive predictive value of 98.3% (95%CI 90.0-99.7%) and negative predictive value of 75.0% (95%CI 49.4-90.2). Conclusions: In this study, a risk score based on characteristics of children less than 4 years with abdominal pain was developed that may help predict a patient's risk of developing acute appendicitis.
Introducción: La presentación clínica de la apendicitis aguda en niños pequeños es inespecífica. El diagnóstico suele demorarse y se acompaña de elevadas tasas de perforación apendicular. Objetivo: Desarrollar una escala de diagnóstico temprano de apendicitis para menores de 4 años. Pacientes y métodos: 100 menores de 4 años apendicectomizados con diagnóstico presuntivo de apendicitis aguda fueron estudiados retrospectivamente en 4 hospitales. El grupo de casos estuvo conformado por 90 pacientes con diagnóstico histopatológico de apendicitis positiva (con inflamación en la pared apendicular) mientras que el grupo de controles estuvo conformado por 10 pacientes con diagnóstico histopatológico de apendicitis negativa (sin inflamación). Las variables demográficas, clínicas, de laboratorio y ecográficas se analizaron mediante selección LASSO y regresión logística para construir una escala predictiva de riesgo de apendicitis. La precisión de la escala se midió por el área bajo la curva de características operativas del receptor. El modelo final comprendió 4 variables (signo de Blumberg, proteína C reactiva, índice neutrófilos-linfocitos y ecografía). Resultados: La escala presentó una elevada precisión 0,96 (IC95% 0,88-0,99), una sensibilidad de 95,1% (IC95 86,3-99,0%), una especificidad de 90,0% (IC95% 55,7-89,5%), un valor predictivo positivo de 98,3% (IC95% 90,0-99,7%) y un valor predictivo negativo de 75,0% (IC95% 49,4-90,2). Conclusiones: En este estudio se desarrolló una escala predictiva basada en las características de los niños menores de 4 años con dolor abdominal agudo que puede ayudar a predecir el riesgo de apendicitis aguda en este grupo etario.
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Apendicite , Lactente , Humanos , Criança , Pré-Escolar , Apendicite/diagnóstico , Apendicite/complicações , Estudos Retrospectivos , Estudos Prospectivos , Curva ROC , Inflamação , Dor Abdominal/etiologia , Doença Aguda , Sensibilidade e EspecificidadeRESUMO
Editorial: Variability and discrepancies between Ethics Committees in the evaluation of academic research projects.
Editorial: Variabilidad y discrepancias entre Comités de Ética en la evaluación de proyectos de investigación académica.
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Comitês de Ética em Pesquisa , Pesquisa , Humanos , Pesquisa/normasRESUMO
To analyze growth patterns of children with CP between countries; to examine differences in growth; and to assess the fit of growth charts. Cross-sectional study in children with CP from 2 to 19 years old, 399 from Argentina and 400 from Germany. Growth measures were converted into z-scores and compared to WHO reference and US CP growth charts. Generalized Linear Model was used to analyze the growth expressed as mean z-scores. 799 children. Mean age 9 years (± 4). Compared to the WHO reference, the decrease in Height z-scores (HAZ) with age in Argentina (- 0.144/year) was double that in Germany (- 0.073/year). For children in GMFCS IV-V, BMI z-scores (BMIZ) decreased with age (- 0.102/year). Using the US CP charts, both countries showed decreasing HAZ with age, in Argentina (- 0.066/year) and in Germany (- 0.032/year). BMIZ increased more among children with feeding tubes (0.062/year), similar in both countries. Argentinian children with oral feeding decrease their Weight z-score (WAZ) by - 0.553 compared to their peers. With WHO charts BMIZ presented an excellent fit for GMFCS I-III. HAZ presents a poor fit to growth references. BMIZ and WAZ presented a good fit to US CP Charts. Growth differences due to ethnicity also act in children with CP, and are related to motor impairment, age and feeding modality, possibly reflecting differences in environment or health care.
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Paralisia Cerebral , Humanos , Criança , Adolescente , Pré-Escolar , Adulto Jovem , Adulto , Paralisia Cerebral/epidemiologia , Argentina/epidemiologia , Estudos Transversais , Desenvolvimento Infantil , Alemanha/epidemiologiaRESUMO
BACKGROUND: Sustained systemic inflammatory response (SIR) was associated with poor postnatal growth in very preterm infants (VPI). We hypothesize that VPI with sustained SIR will exhibit linear growth retardation related to lower bone mass accrual mediated by GH/IGF-1 axis inhibition at term corrected age (CA). METHODS: C-reactive protein (CRP), procalcitonin (PCT), growth hormone (GH), insulin-like growth factor 1 (IGF-1), calcium, phosphorus, alkaline phosphatase, anthropometric, nutritional, neonatal and maternal data were collected prospectively in 23 infants <32 weeks gestational age. Body composition using dual-energy X-ray absorptiometry was performed at term CA. Analysis was undertaken with multiple linear regression models. RESULTS: At term CA 11 infants with sustained SIR compared with 12 infants without sustained SIR present significantly lower IGF-1, length z-score (LZS), bone mineral content (BMC) and lean mass (LM), and higher GH and fat mass (FM). LZS was associated significantly with PCT, BMC with IGF-1, FM and LM with CRP, GH with bronchopulmonary dysplasia and CRP, and IGF-1 with invasive mechanical ventilation, CRP and PCT. CONCLUSIONS: In addition to the known effect on linear growth failure, sustained SIR induces lower bone mass accrual related to higher GH and lower IGF-1 levels in VPI. IMPACT: Very preterm infants (VPI) with sustained systemic inflammatory response (SIR) compared with VPI without SIR present stunting, lower bone mass, higher GH and lower IGF-1 levels at term corrected age. SIR may help to explain the influence of non-nutritional factors on growth and body composition in VPI. SIR induces postnatal stunting related to lower bone mass accrual via GH/IGF-1 axis inhibition in VPI. VPI with SIR need special attention to minimize inflammatory stress, which could result in improved postnatal growth. Research on inflammatory-endocrine interactions involved in the pathophysiology of postnatal stunting is needed as a basis for new interventional approaches.
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Hormônio do Crescimento Humano , Doenças do Prematuro , Lactente , Humanos , Recém-Nascido , Fator de Crescimento Insulin-Like I/metabolismo , Densidade Óssea/fisiologia , Hormônio do Crescimento/farmacologia , Recém-Nascido Prematuro , Hormônio do Crescimento Humano/metabolismo , Transtornos do Crescimento , Composição Corporal/fisiologia , Inflamação , Síndrome de Resposta Inflamatória SistêmicaAssuntos
Tamponamento Cardíaco , Derrame Pericárdico , Humanos , Derrame Pericárdico/etiologia , CoraçãoRESUMO
To compare growth patterns during infancy, childhood and adolescence in children with unilateral and bilateral cerebral palsy (CP) phenotype and to assess the association with gross motor impairment, dysphagia and gestational age. We retrospectively studied 389 children with CP from a single center population in Munich, Germany. 1536 measurements of height and weight were tabulated and z-scored from 6 to 180 months of age. Generalized linear mixed model were used to examine the association between growth, GMFCS, dysphagia and gestational age by CP phenotype. Children with unilateral CP tend to grow similarly to their typically developed peers. In the main effect model, bilateral CP phenotype was significantly associated with decreased mean z-scores for height (ß [95% CI] - 0.953 [- 1.145, - 0.761], p < 0.001), weight (- 0.999 [- 1.176, - 0.807], p < 0.001) and BMI (ß [95% CI] - 0.437 [- 0.799, - 0.075]), compared with unilateral CP phenotype. This association remained significant in the interaction models. The height-for-age z-scores, weight-for-age decreased z-scores and BMI-for-age z-scores of children with bilateral CP and GMFCS III-V or dysphagia decreased more significantly than those of children with unilateral CP. Preterm birth was not significantly associated with decreased growth in height, weight and BMI. Reduced growth in children with bilateral CP was strongly associated with moderate to severe impairment in gross motor function (GMFCS III-V) and dysphagia.