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BACKGROUND: Adolescent smoking is associated with significant health and social risks. Previous research has demonstrated the effectiveness of interventions based on behavior change theories in preventing adolescent smoking uptake. However, evidence from the theory-based perspective of evaluation is limited, especially for how such complex interventions work, and how they work when implemented in different contextual settings. METHOD: A comparative qualitative analysis was conducted to explore various influences on behavior change among participants taking part in two smoking prevention interventions in Northern Ireland and Bogotá. Twenty-seven focus groups were conducted in 12 schools (6 in Northern Ireland and 6 in Bogota, n = 195 pupils participated; aged 11-15 years). The Theoretical Domains Framework guided a content analysis of the data. RESULTS: We found similarities across settings in terms of knowledge, skills, and beliefs related to smoking or vaping behavior change, as well as differences in contextual resources and social influence. Different environmental resources included availability to purchase tobacco products in the neighborhoods and previous information about tobacco risk. Participants in both interventions perceived behavioral change outcomes related to personal skills and intention to not smoke or vape. CONCLUSION: These findings have highlighted how both individual factors and contextual resources influence behavior change for smoking prevention in practice. Local contextual factors and social influences affecting pupils should be taken into account in the implementation and evaluation of health behavior change interventions. In particular, this study supports using social and contextual influence strategies in interventions to reduce the onset of adolescent smoking and vaping.
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Objective: To determine the concentration of stool short-chain fatty acids (SCFAs) in critically ill patients with sepsis and to compare the results between the critically ill patient and the control group.Methods: This descriptive, multicenter, observational study was conducted in five health institutions. Over a 6-month study period, critically ill patients with sepsis who were admitted to the intensive care unit (ICU) and met the inclusion criteria were enrolled, and a control, paired by age and sex, was recruited for each patient. A spontaneous stool sample was collected from each participant and a gas chromatograph coupled to a mass spectrometer (Agilent 7890/MSD 5975 C) was used to measure the concentrations SCFAs.Results: The final sample included 44 patients and 45 controls. There were no differences in the age and sex distributions between the groups (p > 0.05). According to body mass index (BMI), undernutrition was more prevalent among critically ill patients, and BMI in control subjects was most frequently classified as overweight (p = 0.024). Propionic acid, acetic acid, butyric acid, and isobutyric acid concentrations were significantly lower in the critically ill patient group than in the control group (p = 0.000). No association with outcome variables (complications, ICU stay, and discharge condition) was found in the patients, and patients diagnosed with infection on ICU admission showed significant decreases in butyric and isobutyric acid concentrations with respect to other diagnostic criteria (p < 0.05).Conclusions: The results confirm significantly lower concentrations of stool SCFAs in critically ill patients with sepsis than in control subjects. Due to its role in intestinal integrity, barrier function, and anti-inflammatory effect, maintaining the concentration of SCFAs may be important in the ICU care protocols of the critical patient.
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Cuidados Críticos , Estado Terminal , Ácidos Graxos Voláteis/análise , Fezes/química , Sepse/metabolismo , Adulto , Colômbia/epidemiologia , Feminino , Cromatografia Gasosa-Espectrometria de Massas , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Critically ill patients are physiologically unstable and recent studies indicate that the intestinal microbiota could be involved in the health decline of such patients during ICU stays. This study aims to assess the intestinal microbiota in critically ill patients with and without sepsis and to determine its impact on outcome variables, such as medical complications, ICU stay time, and mortality. A multi-center study was conducted with a total of 250 peri-rectal swabs obtained from 155 patients upon admission and during ICU stays. Intestinal microbiota was assessed by sequencing the V3-V4 hypervariable regions of the 16S rRNA gene. Linear mixed models were used to integrate microbiota data with more than 40 clinical and demographic variables to detect covariates and minimize the effect of confounding factors. We found that the microbiota of ICU patients with sepsis has an increased abundance of microbes tightly associated with inflammation, such as Parabacteroides, Fusobacterium and Bilophila species. Female sex and aging would represent an increased risk for sepsis possibly because of some of their microbiota features. We also evidenced a remarkable loss of microbial diversity, during the ICU stay. Concomitantly, we detected that the abundance of pathogenic species, such as Enterococcus spp., was differentially increased in sepsis patients who died, indicating these species as potential biomarkers for monitoring during ICU stay. We concluded that particular intestinal microbiota signatures could predict sepsis development in ICU patients. We propose potential biomarkers for evaluation in the clinical management of ICU patients.
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Bactérias/classificação , Bactérias/isolamento & purificação , Microbioma Gastrointestinal/genética , Intestinos/microbiologia , Sepse/microbiologia , APACHE , Adulto , Bactérias/genética , Biomarcadores , Estudos de Casos e Controles , Cuidados Críticos , Estado Terminal , Feminino , Microbioma Gastrointestinal/fisiologia , Humanos , Inflamação/patologia , Masculino , Pessoa de Meia-Idade , RNA Ribossômico 16S/genética , Sepse/patologia , Adulto JovemRESUMO
La enfermedad de Sandhoff es una patología neurodegenerativa, de almacenamiento lisosomal, causada por mutaciones en el gen HEXB. Existen tres formas clínicas: infantil, juvenil y adulta. Previamente, fue identificada una población endogámica en la provincia de Córdoba, Argentina, que presentaba una alta incidencia de la enfermedad; todos los casos correspondieron a la forma infantil. En este trabajo, se presenta por primera vez el caso de un paciente argentino con la variante juvenil de la enfermedad de Sandhoff. El paciente es un niño de 7 años que, a partir de los 2, presentó ataxia, trastorno del habla y retraso global en el desarrollo. El diagnóstico se confirmó con la detección de valores residuales de enzima hexosaminidasa y con la identificación de dos mutaciones ya descritas en estado de heterocigosis: c.796T>G (p.Y266D) y c.1615C>T (p.R539C).
Sandhoff disease is a neurodegenerative, lysosomal and autosomal recessive disease caused by mutations in the HEXB gene. Three forms are recognized: infantile, juvenile and adult. Previously, an endogamous population in Córdoba, Argentina, was identified with a high incidence of Sandhoff disease, all reported cases were of the infantile type. In this work, we describe a child with the juvenile form of Sandhoff disease, the first case reported in Argentina. The patient is a 7-year-old boy presenting with ataxia, speech disturbances and global developmental delay, symptoms starting at the age of 2 years. Diagnosis was based on the hexosaminidase deficiency. Sequencing of genomic DNA revealed compound heterozygosity for two HEXB gene mutations: c.796T>G (p.Y266D) and c.1615C>T (p.R539C), both already reported.
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Humanos , Masculino , Criança , Doença de Sandhoff/diagnóstico , Argentina , Doença de Sandhoff/classificaçãoRESUMO
Sandhoff disease is a neurodegenerative, lysosomal and autosomal recessive disease caused by mutations in the HEXB gene. Three forms are recognized: infantile, juvenile and adult. Previously, an endogamous population in Córdoba, Argentina, was identified with a high incidence of Sandhoff disease, all reported cases were of the infantile type. In this work, we describe a child with the juvenile form of Sandhoff disease, the first case reported in Argentina. The patient is a 7-year-old boy presenting with ataxia, speech disturbances and global developmental delay, symptoms starting at the age of 2 years. Diagnosis was based on the hexosaminidase deficiency. Sequencing of genomic DNA revealed compound heterozygosity for two HEXB gene mutations: c.796T>G (p.Y266D) and c.1615C>T (p.R539C), both already reported.
La enfermedad de Sandhoff es una patología neurodegenerativa, de almacenamiento lisosomal, causada por mutaciones en el gen HEXB. Existen tres formas clínicas: infantil, juvenil y adulta. Previamente, fue identificada una población endogámica en la provincia de Córdoba, Argentina, que presentaba una alta incidencia de la enfermedad; todos los casos correspondieron a la forma infantil. En este trabajo, se presenta por primera vez el caso de un paciente argentino con la variante juvenil de la enfermedad de Sandhoff. El paciente es un niño de 7 años que, a partir de los 2, presentó ataxia, trastorno del habla y retraso global en el desarrollo. El diagnóstico se confirmó con la detección de valores residuales de enzima hexosaminidasa y con la identificación de dos mutaciones ya descritas en estado de heterocigosis: c.796T>G (p.Y266D) y c.1615C>T (p.R539C).
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Doença de Sandhoff/diagnóstico , Argentina , Criança , Humanos , Masculino , Doença de Sandhoff/classificaçãoAssuntos
Humanos , Masculino , Adulto , Idoso , Ecocardiografia , Cisto Mediastínico , Neoplasias Pulmonares/congênitoAssuntos
Códon/genética , Proteínas de Membrana/genética , Mutação , Lipofuscinoses Ceroides Neuronais/genética , Adolescente , Argentina , Biópsia , Códon de Terminação , Éxons , Feminino , Mutação da Fase de Leitura , Heterozigoto , Humanos , Masculino , Lipofuscinoses Ceroides Neuronais/etnologia , FenótipoAssuntos
Substituição de Aminoácidos , Códon/genética , Proteínas de Membrana/genética , Mutação de Sentido Incorreto , Lipofuscinoses Ceroides Neuronais/genética , Adolescente , Argentina , Biópsia , Éxons , Feminino , Heterozigoto , Humanos , Masculino , Lipofuscinoses Ceroides Neuronais/etnologia , Fenótipo , Mutação PuntualRESUMO
INTRODUCTION: The cystic fibrosis is an autosomal recessive disease caused by more than 1500 mutations and variants in the cystic fibrosis transmembrane conductance regulator gene. OBJECTIVES: To establish the spectrum and frequency of mutations on this gene in Argentinean patients.To detect heterozygotes in affected families. PATIENTS AND METHODS: We investigated 91 clinical and biochemically confirmed patients with 2 elevated sweat tests and 2 sterile adults. We worked with 165 relatives. The molecular diagnosis was accomplished in 3 serial stages: a) determination of 29 frequent mutations; b) haplotypes for microsatellites; c) an extensive screening of gene through single strand conformation analysis and multiplex denaturing gradient gel electrophoresis with sequencing of abnormal patterns. Once patient's genotype was confirmed, we investigated the heterozygotes' state in the relatives. RESULTS: 1ST OBJECTIVE: Fourteen mutations were identified. Three more mutations were detected and other 11 mutations were characterized, 3 of them novel (p.G27R, c.622-2A>G, p.W277R). In total, we have identified 28 mutations responsible for 90.3% of the mutated alleles, 14 with a higher frequency than 1%. 2ND OBJECTIVE: From 165 investigated people, 143 were confirmed as heterozygotes and with normal genotype 22. CONCLUSIONS: This work contributed to the molecular characterization of patients with classic and atypical phenotypes and to the detection of great numbers of carriers. New pharmacological therapeutic investigations are based on the mutation type. Therefore, knowledge of patients, mutations (genotype) has significant importance for the future application of specific therapies.
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Serviços de Saúde da Criança/estatística & dados numéricos , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística , Mutação Puntual/genética , Adulto , Argentina , Criança , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Fibrose Cística/terapia , Análise Mutacional de DNA , Genótipo , Haplótipos , Heterozigoto , HumanosRESUMO
Introducción. La fibrosis quística es una enfermedad autosómica recesiva causada por más de 1.500mutaciones y variantes en el gen regulador de la conductancia transmembrana.Objetivos. Establecer el espectro y frecuencia demutaciones en este gen en pacientes argentinos.Detectar portadores en las familias involucradas.Material y métodos. Se investigó en 91 pacientes, clínica y bioquímicamente confirmados con 2 pruebas de sudor positivas y en 2 adultos estériles. Setrabajó con 165 familiares. El diagnóstico molecularcomprendió 3 etapas consecutivas: a) determinaciónde 29 mutaciones frecuentes; b) haplotipos por microsatélites; c) pesquisa completa del gen poranálisis conformacional de hebra simple y electroforesisen gel de gradiente desnaturalizante consecuenciamiento de los patrones anormales. Determinado el genotipo de los pacientes, se investigó elestado de portador en los familiares.Resultados. 1er Objetivo: Se identificaron 14 mutaciones, se detectaron otras 3 mutaciones y se caracterizaron otras 11 mutaciones, tres de ellas nuevas(p.G27R, c.622-2A>G, p.W277R). En total, se identificaron28 mutaciones responsables del 90,3 por ciento de losalelos mutados, 14 con una frecuencia superior al 1 por ciento2º Objetivo: De 165 personas investigadas, 143 fueronportadores y 22 con genotipo normal.Conclusiones. Este trabajo contribuyó a la caracterización molecular de pacientes con fenotipos clásicosy atípicos y a la detección de numerosos portadores.Las investigaciones fármaco-terapéuticas recientesse basan en el tipo de mutación. Por lo tanto,conocer las mutaciones de los pacientes (genotipo) tiene significativa importancia para la futura aplicaciónde terapias específicas.
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Humanos , Masculino , Feminino , Regulador de Condutância Transmembrana em Fibrose Cística , Fibrose Cística/diagnóstico , Triagem de Portadores Genéticos , Técnicas de Diagnóstico Molecular , Polimorfismo GenéticoRESUMO
BACKGROUND: High-grade intraepithelial neoplasia (HGPIN) is the only lesion regarded as precursor of prostatic carcinoma, though its frequency is unknown in many countries. Here we studied the frequency of HGPIN in a population with high grade frequency of prostatic carcinoma. MATERIAL AND METHODS: A total of 486 cases of sextant prostatic biopsies performed from January 2001 to January 2006 were reviewed. These included 280 biopsies from patients belonging to an urban population, with medium or high socioeconomic status, from two hospitals in Mexico City. For comparison, 206 cases from the Regional Hospital of Tabasco located in the tropical zone of the country were included. This hospital receives patients from a rural population with low income and socioeconomic status. RESULTS: Of the total 486 cases, 162 (33.33%) cases were diagnosed as prostatic carcinoma and 319 (65.64%) as benign conditions. Only in five (1.03%) biopsies was HGPIN found. Three of these patients were from Mexico City, and two from the Regional Hospital of Tabasco. CONCLUSIONS: Even when our results were obtained only in three hospitals, they suggest that a low frequency of HGPIN on needle prostate biopsies does not necessarily mean a low frequency of prostatic carcinoma in the same population. The reason for such a disparity could be related to a reduced extension of HGPIN areas in the prostate gland. In populations with low frequency of HGPIN and high incidence of prostatic carcinoma, perhaps more biopsy cores should be obtained in order to minimize false negative results for premalignant lesions or early adenocarcinoma.
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Neoplasia Prostática Intraepitelial/epidemiologia , Neoplasias da Próstata/epidemiologia , Idoso , Biópsia por Agulha , Humanos , Incidência , Indígenas Norte-Americanos/estatística & dados numéricos , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Neoplasia Prostática Intraepitelial/patologia , Neoplasias da Próstata/patologia , Estudos Retrospectivos , População Rural/estatística & dados numéricos , Classe Social , Espanha/etnologia , População Urbana/estatística & dados numéricos , População Branca/estatística & dados numéricosRESUMO
BACKGROUND: Differences between children with atopic asthma (AA) and nonatopic asthma (non-AA) have been shown in epidemiologic studies. In developing countries, even when non-AA is more prevalent than AA among schoolchildren, no data are available regarding clinical, functional, and epidemiological differences between these 2 groups. OBJECTIVE: To evaluate differences between Chilean children with AA and non-AA. METHODS: In this cross-sectional study, skin prick tests were performed on all patients (age range, 4-14 years) admitted to our tertiary care hospital with the diagnosis of asthma who were consequently classified as having AA or non-AA. Demographic characteristics, spirometry results, exercise bronchial challenge test results, and eosinophil counts measured in the last 12 months were recorded. RESULTS: Among the 237 asthmatic children, 62.5% had AA. Non-AA children had a significantly earlier onset of asthma and a more frequent history of pneumonia and tobacco consumption at home. Children with AA had higher nasal eosinophilia levels and a higher prevalence of dermatitis and severe exacerbation episodes of asthma in the past year (emergency department consultation and oral corticosteroids courses). Lung function was similar in both groups. After the multivariate analysis, only the number of oral steroid courses was significantly different between the groups and was associated with AA. CONCLUSIONS: In this selected population of asthmatic schoolchildren, the prevalence of non-AA (37.6%) is not negligible, and some differences between AA and non-AA children exist.