ABSTRACT
Burkholderia contaminans, a species of the Burkholderia cepacia complex-prevalent in certain Latin-American and European countries-can cause chronic pulmonary infection in persons with cystic fibrosis. Our aim was to gain insights into long-term lung infections with a focus on correlating how bacterial phenotypic traits in the chronic infection impact on patients' clinical outcome. Genotypic characteristics of 85 B. contaminans isolates recovered from 70 patients were investigated. For 16 of those patients, the clinical status and bacterial phenotypic characteristics, e.g. several virulence factors, phenotypic variants, and the antimicrobial susceptibility pattern, were evaluated. Two clones were found in the whole bacterial population: (i) the multiresistant ST 872 PCR-recA-RFLP-HaeIII-K-pattern clone, which carries a pathogenic island homologous to BcenGI11 of B. cenocepacia J2315, and (ii) the ST 102 PCR-recA-RFLP-HaeIII-AT-pattern clone. The emergence of certain bacterial phenotypes in the chronic infection such as the nonmucoid phenotype, small colony variants, brownish pigmented colonies, and hypermutators, proved to be, together with coinfection with Pseudomonas aeruginosa, the possible markers of more challenging infections and poor prognosis. The presence of cocolonizers and the bacterial phenotypes that are especially adapted to persist in long-term respiratory tract infections have a crucial role in patients' clinical outcomes.
Subject(s)
Burkholderia Infections , Burkholderia cepacia complex , Cystic Fibrosis , Pneumonia , Humans , Persistent Infection , Cystic Fibrosis/complications , Cystic Fibrosis/microbiology , Lung/microbiology , Phenotype , Burkholderia Infections/microbiologyABSTRACT
La falla de respuesta anticorpórea frente a antígenos polisacáridos es una inmunodeficiencia primaria humoral definida como una pobre respuesta frente a antígenos polisacáridos contenidos en la vacuna antineumocócica de 23 serotipos, con inmunoglobulinas normales y respuesta adecuada frente a antígenos proteicos. Las manifestaciones clínicas reportadas incluyen infecciones sinopulmonares recurrentes, infecciones sistémicas y asma. El objetivo de esta presentación es describir las manifestaciones clínicas y la evolución en una cohorte de pacientes con falla de respuesta anticorpórea frente a antígenos polisacáridos diagnosticados y seguidos en nuestro centro entre 1998 y 2012.
Specific antibody deficiency is a common antibody immunodeficiency defined as a poor antibody response to pneumococcal polysaccharides antigens present in the 23-valent pneumococcal vaccine, with normal immunoglobulins and normal response to protein antigens. Clinical manifestations include recurrent sinopulmonary infections, severe infections and asthma. The aim of this presentation is to describe clinical manifestations and evolution of a cohort of children with specific antibody deficiency diagnosed and followed in our center between 1998 and 2012.
Subject(s)
Humans , Child, Preschool , Child , Pediatrics , Polysaccharides , Respiratory Tract Infections , Immunologic Deficiency SyndromesABSTRACT
Specific antibody deficiency is a common antibody immunodeficiency defined as a poor antibody response to pneumococcal polysaccharides antigens present in the 23-valent pneumococcal vaccine, with normal immunoglobulins and normal response to protein antigens. Clinical manifestations include recurrent sinopulmonary infections, severe infections and asthma. The aim of this presentation is to describe clinical manifestations and evolution of a cohort of children with specific antibody deficiency diagnosed and followed in our center between 1998 and 2012.
Subject(s)
Immunologic Deficiency Syndromes/diagnosis , Polysaccharides, Bacterial/immunology , Adolescent , Child , Child, Preschool , Female , Humans , Infant , MaleABSTRACT
INTRODUCTION: Newborn Screening for Cystic Fibrosis (CF) has demonstrated better clinical and functional results in patients diagnosed and treated prematurely. OBJECTIVE: To compare clinical and functional state in children with CF detected by newborn screening or by symptoms. PATIENTS AND METHODS: Cross-sectional study. We compared two groups paired by age, sex and genotype. A group detected by newborn screening (Group N) and other by symptoms (Group S), both confirmed with sweat test. We evaluated: age at diagnosis and enter to the center, z score weight/age (z W/A) at first visit and z score for body mass index (BMI) and height/age (z H/A) in last control, score of Shwachman-Brasfield (S/B), forced expiratory volume in one second (FEV1), first isolation of Pseudomonas aeruginosa (Pa) and number of hospitalizations. RESULTS: We included 21 patients in each of the groups from an universe of 250 patients treated in our center. The mean of both groups was 4.4 years. The age at diagnosis was lower in the group N than in the group S (p= 0.002, IC95%:-1.11/- 0.32). z W/A at diagnosis; z IMC; z H/A, score S/B and FEV(1) were better in group N (p< 0.001, 0.3, 0.01, 0.02, 0.1, respectively). The average age of first isolation of Pa and the average of hospitalizations was lower in group N (p= 0.34, IC95%: -1.45/0.51, p= 0.04, IC95%: -3.16/-0.07). CONCLUSIONS: Children with CF detected by neonatal screening programs had better clinical and functional outcome.
Subject(s)
Cystic Fibrosis/diagnosis , Cystic Fibrosis/physiopathology , Neonatal Screening , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant, Newborn , MaleABSTRACT
Introducción. La pesquisa neonatal para fibrosis quística (FQ) ha demostrado que en los pacientes diagnosticados y tratados precozmente se asocia con mejores resultados clínicos y funcionales. Objetivo. Comparar el estado clínico-funcional en niños con FQ detectados por pesquisa neonatalo por síntomas clínicos. Población, material y métodos. Estudio transversal. Se compararon dos grupos apareados por edad, sexo y genotipo. Un grupo detectado por pesquisa neonatal (Grupo P) y otro por síntomas (Grupo S), confirmados con prueba del sudor. Se evaluaron: edades al diagnóstico y al ingreso al centro, puntaje z peso/edad (z P/E) en la primer visita y z de índice de masa corporal (z IMC) y de talla/edad (z T/E) al último control, puntaje de Shwachman-Brasfield (S/B), volumen espiratorio forzado en el 1er segundo (VEF1), primer aislamiento de Pseudomonas aeruginosa (Pa) y número de hospitalizaciones. Resultados. De 250 pacientes en seguimiento, se incluyeron 21 pacientes en cada grupo. La edad (media) de ambos fue 4,4 años. La edad al diagnóstico fue más temprana en el grupo P que en el grupo S (p= 0,002, IC 95 por ciento: -1,11/-0,32). El z P/E diagnóstico, z IMC, z T/E, puntaje S/B y VEF1 fueron mejores en el grupo P (p< 0,001; 0,3; 0,01; 0,02; 0,1 respectivamente). La edad promedio del primer aislamiento de Pa y la media de hospitalizaciones fue menor en el grupo P (p= 0,34,IC95 por ciento: -1,45/0,51, p= 0,04, IC95 por ciento: -3,16/-0,07; respectivamente). Conclusiones. Los niños con FQ detectados a través de programas de pesquisa neonatal presentan un mejor estado clínico y funcional.
Introduction. Newborn Screening for Cystic Fibrosis(CF) has demonstrated better clinical and functional results in patients diagnosed and treated prematurely. Objective. To compare clinical and functional state in children with CF detected by newborn screening or by symptoms. Patients and methods. Cross-sectional study. We compared two groups paired by age, sex and genotype. A group detected by newborn screening (Group N) and other by symptoms (Group S), both confirmed with sweat test. We evaluated: age at diagnosis and enter to the center, z score weight/age (z W/A) at first visit and z score for body mass index (BMI) and height/age (z H/A) in last control, score of Shwachman-Brasfield (S/B), forced expiratory volume in one second (FEV1), first isolation of Pseudomonas aeruginosa (Pa) and number of hospitalizations. Results. We included 21 patients in each of the groups from an universe of 250 patients treated in our center. The mean of both groups was 4.4 years. The age at diagnosis was lower in the group N than in the group S (p= 0.002, IC95 por ciento:-1.11/-0.32); z W/A at diagnosis; z IMC; z H/A, score S/B and FEV1 were better in group N (p< 0.001, 0.3, 0.01, 0.02, 0.1, respectively). The average age of first isolation of Pa and the average of hospitalizations was lower in group N (p= 0.34, IC95 por ciento: -1.45/0.51, p= 0.04, IC95 por ciento: -3.16/-0.07). Conclusions. Children with CF detected by neonatal screening programs had better clinical and functional outcome.
Subject(s)
Humans , Male , Child, Preschool , Female , Comparative Study , Cystic Fibrosis , Early Diagnosis , Health Status , Signs and Symptoms , Neonatal Screening , Cross-Sectional StudiesABSTRACT
Most children with idiopathic central hypoventilation have symptoms at birth or shortly thereafter and have mutations of the PHOX2B gene. Those whose symptoms appear later usually have obesity and hypothalamic abnormalities. We describe a case of a boy who presented at 5 years of age with severe idiopathic central hypoventilation, but no obesity or hypothalamic abnormalities, and who tested negative for mutation of the PHOX2B gene. This case illustrates the heterogeneity of childhood idiopathic central hypoventilation syndromes and indicates the multifactorial etiology of these syndromes.
Subject(s)
Continuous Positive Airway Pressure/methods , Homeodomain Proteins/genetics , Hypothalamus/abnormalities , Point Mutation/genetics , Sleep Apnea, Central , Transcription Factors/genetics , Adolescent , Age Factors , Child, Preschool , Diagnosis, Differential , Electrocardiography , Humans , Male , Sleep Apnea, Central/diagnosis , Sleep Apnea, Central/genetics , Sleep Apnea, Central/therapyABSTRACT
En la atención de niños con infecciones inusuales, el pediatra debe considerar la posibilidad de un déficit inmunitario subyacente. Los más comunes, como la infección por el virus de la inmunodeficiencia humana y muchos defectos humorales, pueden ser fácilmente descartados. Otras inmunodeficiencias pueden requerir un adecuado índice de sospecha y eventualmente una consulta especializada. El síndrome de Buckley o de hiper IgE es una inmunodeficiencia compleja y de frecuencia no bien establecida, caracterizada por eccema precoz, abscesos recurrentes, infecciones respiratorias con formación de neumatoceles pulmonares, características faciales toscas, anomalías dentarias y esqueléticas y una marcada elevación sérica de IgE. Su sospecha clínica temprana y su eventual confirmación pueden ser dificultosas, ya que en niños pequeños aparece usualmente incompleto, el defecto inmunológico subyacente no ha sido definitivamente caracterizado y no existe una prueba diagnóstica definitiva. Se comunican los casos de dos niños con síndromede hiper IgE que presentaron dificultades en el diagnóstico, asistidos en un período de dos años en un hospital pediátrico.
Subject(s)
Male , Female , Infant, Newborn , Infant , Early Diagnosis , Immunoglobulin E , Job Syndrome/complications , Job Syndrome/diagnosis , Job Syndrome/therapy , Immunologic Deficiency Syndromes/complications , Immunologic Deficiency Syndromes/diagnosis , Immunologic Deficiency Syndromes/therapy , Pneumococcal Infections , Respiratory Tract Infections , Staphylococcal Skin InfectionsABSTRACT
En la atención de niños con infecciones inusuales, el pediatra debe considerar la posibilidad de un déficit inmunitario subyacente. Los más comunes, como la infección por el virus de la inmunodeficiencia humana y muchos defectos humorales, pueden ser fácilmente descartados. Otras inmunodeficiencias pueden requerir un adecuado índice de sospecha y eventualmente una consulta especializada. El síndrome de Buckley o de hiper IgE es una inmunodeficiencia compleja y de frecuencia no bien establecida, caracterizada por eccema precoz, abscesos recurrentes, infecciones respiratorias con formación de neumatoceles pulmonares, características faciales toscas, anomalías dentarias y esqueléticas y una marcada elevación sérica de IgE. Su sospecha clínica temprana y su eventual confirmación pueden ser dificultosas, ya que en niños pequeños aparece usualmente incompleto, el defecto inmunológico subyacente no ha sido definitivamente caracterizado y no existe una prueba diagnóstica definitiva. Se comunican los casos de dos niños con síndromede hiper IgE que presentaron dificultades en el diagnóstico, asistidos en un período de dos años en un hospital pediátrico.(AU)
