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Despite the high potential of seagrass restoration to reverse the trend of marine ecosystem degradation, there are still many limitations, especially when ecosystems are severely degraded. In particular, it is not known whether restoring polluted ecosystems can lead to potentially harmful effects associated with contaminant remobilisation. Here, we aimed to investigate the role of P. oceanica transplanted from a pristine meadow to a polluted site (Augusta Bay, Italy, Mediterranean Sea) in two seasons of the year, as a sink or source of trace elements to the environment. The main results showed i) higher accumulation of chromium (Cr), copper (Cu) and total mercury (THg) in plants transplanted in summer than in winter, as well as an increase in Cr and THg in plants from sites with higher trace element loads; ii) an increase in leaf phenolics and a decrease in rhizome soluble carbohydrates associated with As and THg accumulation, suggesting the occurrence of defence strategies to cope with pollution stress; iii) a different partitioning of trace elements between below- and above-ground tissues, with arsenic (As) and Cr accumulating in roots, whereas Cu and THg in both roots and leaves. These results suggest that P. oceanica transplanted to polluted sites can act as both a sink and a source, sequestering trace elements in the below-ground tissues thus reducing their bioavailability, but also potentially remobilising them. However, the amount of trace elements potentially exported from P. oceanica to the environment through transfer into food webs via leaves and detritus appeared to be low under the specific conditions of the study site. Although further research into seagrass restoration of polluted sites would improve current knowledge to support effective ecosystem-based coastal management, the benefits of restoring polluted sites through seagrass transplantation appear to outweigh the potential costs of inaction over time.
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Alismatales , Ecossistema , Oligoelementos , Oligoelementos/análise , Mar Mediterrâneo , Poluentes Químicos da Água , Itália , Arsênio/análiseRESUMO
Parental socioeconomic position (SEP) is a known determinant of a child's health. We aimed to investigate whether a low parental education, as proxy of SEP, has a direct effect on physician-diagnosed asthma, current asthma and current allergic rhinitis in children, or whether associations are mediated by exposure to other personal or environmental risk factors. This study was a secondary data analysis of two cross-sectional studies conducted in Italy in 2006. Data from 2687 adolescents (10-14 years) were analyzed by a path analysis model using generalized structural equation modelling. Significant direct effects were found between parental education and family characteristics (number of children (coefficient = 0.6229, p < 0.001) and crowding index (1.1263, p < 0.001)) as well as with exposure to passive smoke: during pregnancy (maternal: 0.4697, p < 0.001; paternal: 0.4854, p < 0.001), during the first two years of children's life (0.5897, p < 0.001) and currently (0.6998, p < 0.001). An indirect effect of parental education was found on physician-diagnosed asthma in children mediated by maternal smoking during pregnancy (0.2350, p < 0.05) and on current allergic rhinitis mediated by early environmental tobacco smoke (0.2002; p < 0.05). These results suggest the importance of promotion of ad-hoc health policies for promoting smoking cessation, especially during pregnancy.
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Asma , Rinite Alérgica , Rinite , Poluição por Fumaça de Tabaco , Criança , Adolescente , Masculino , Feminino , Gravidez , Humanos , Rinite/epidemiologia , Rinite/etiologia , Estudos Transversais , Asma/induzido quimicamente , Poluição por Fumaça de Tabaco/efeitos adversos , Rinite Alérgica/induzido quimicamente , Pai , Fatores de RiscoRESUMO
(1) Background: Sleep-disordered breathing (SDB) is a frequent problem in children. Cluster analyses offer the possibility of identifying homogeneous groups within a large clinical database. The application of cluster analysis to anthropometric and polysomnographic measures in snoring children would enable the detection of distinctive clinically-relevant phenotypes; (2) Methods: We retrospectively collected the results of nocturnal home-based cardiorespiratory polygraphic recordings and anthropometric measurements in 326 habitually-snoring otherwise healthy children. K-medoids clustering was applied to standardized respiratory and anthropometric measures, followed by Silhouette-based statistics. Respiratory Disturbance Index (RDI) and oxygen desaturation index (≤3%) were included in determining the optimal number of clusters; (3) Results: Mean age of subjects was 8.1 ± 4.1 years, and 57% were males. Cluster analyses uncovered an optimal number of three clusters. Cluster 1 comprised 59.5% of the cohort (mean age 8.69 ± 4.14 years) with a mean RDI of 3.71 ± 3.23 events/hour of estimated sleep (e/ehSleep). Cluster 2 included 28.5% of the children (mean age 6.92 ± 3.43 years) with an RDI of 6.38 ± 3.92 e/ehSleep. Cluster 3 included 12% of the cohort (mean age 7.58 ± 4.73 years) with a mean RDI of 25.5 ± 19.4 e/ehSleep. Weight z-score was significantly lower in cluster 3 [-0.14 ± 1.65] than in cluster 2 [0.86 ± 1.78; p = 0.015] and cluster 1 [1.04 ± 1.78; p = 0.002]. Similar findings emerged for BMI z scores. However, the height z-score was not significantly different among the 3 clusters; (4) Conclusions: Cluster analysis of children who are symptomatic habitual snorers and are referred for clinical polygraphic evaluation identified three major clusters that differed in age, RDI, and anthropometric measures. An increased number of children in the cluster with the highest RDI had reduced body weight. We propose that the implementation of these approaches to a multicenter-derived database of home-based polygraphic recordings may enable the delineation of objective unbiased severity categories of pediatric SDB. Our findings could be useful for clinical implementation, formulation of therapeutic decision guidelines, clinical management, prevision of complications, and long-term follow-up.
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Identifying asthma comorbidities in children is fundamental for improving disease management. We aimed to investigate the frequency of allergy-related comorbidities in children and adolescents with asthma, and to identify associated risk factors and disease burden. Between September 2015 and December 2018, 508 asthmatic patients (5-17 years) were consecutively enrolled. Parents answered a standardized questionnaire on the history of disease and risk factors. Comorbidities were classified based on the involvement of respiratory and/or extra-respiratory districts: asthma only (A, 13%), asthma with respiratory comorbidities (AR, 37%), asthma with extra-respiratory comorbidities (AER, 10%), and asthma with both respiratory and extra-respiratory comorbidities (ARER, 40%). Multinomial logistic regression showed that membership in the AR group was significantly associated with a maternal history of asthma (OR = 3.08, 95% CI: 1.23-7.72), breastfeeding ≥ three months (OR = 1.92, 1.06-3.46), early mold exposure (OR = 2.39, 1.12-5.11), and current environmental tobacco smoke exposure (OR = 2.06, 1.11-3.83). Membership in the AER group was significantly associated with the female gender (OR = 3.43, 1.54-7.68), breastfeeding ≥ three months (OR = 2.77, 1.23-6.22). ARER was significantly associated with all the aforementioned exposures. Patients with AR reported exacerbations in the last 12 months more frequently (p = 0.009). Several personal and environmental risk factors are associated with comorbidities in asthmatic children and adolescents, possibly worsening the disease burden.
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Developmental age is particularly vulnerable to impacts of environmental exposures. Until recent years, the field of environment and child health has predominantly relied on the study of single exposure-health effect relationships. The exposome is an emerging concept in epidemiology, encompassing the totality of the exposures experienced by an individual throughout life and their changes over time. This innovative approach provides a risk profile instead of individual predictors. Exposome research may contribute to better understand the complex relationships between environmental exposures and childhood respiratory health, in order to implement prevention strategies and mitigate adverse health outcomes across the life span. Indeed, an accurate assessment of the exposome needs several measurements as well as different technologies. High-throughput "omics" technologies may be promising tools to integrate a wide range of exposures. However, analyzing large and complex datasets requires the development of advanced statistical tools. This narrative review summarizes the current knowledge on exposome-based approaches in pediatric respiratory health. Further, it explores practical implementation, associated evidence gaps, research limitations and future research perspectives.
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Expossoma , Criança , Exposição Ambiental/efeitos adversos , HumanosRESUMO
Personalized medicine, an approach to care in which individual characteristics are used for targeting interventions and maximizing health outcomes, is rapidly becoming a reality for many diseases. Childhood asthma is a heterogeneous disease and many children have uncontrolled symptoms. Therefore, an individualized approach is needed for improving asthma outcomes in children. The rapidly evolving fields of genomics and pharmacogenomics may provide a way to achieve asthma control and reduce future risks in children with asthma. In particular, pharmacogenomics can provide tools for identifying novel molecular mechanisms and biomarkers to guide treatment. Emergent high-throughput technologies, along with patient pheno-endotypization, will increase our knowledge of several molecular mechanisms involved in asthma pathophysiology and contribute to selecting and stratifying appropriate treatment for each patient.
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Asma , Farmacogenética , Asma/diagnóstico , Asma/tratamento farmacológico , Asma/genética , Biomarcadores , Criança , Genômica , Humanos , Medicina de PrecisãoRESUMO
BACKGROUND: Few studies have examined the impact of urban greenspace exposure on lung function in children-adolescents, and the available evidence is still inconsistent. The aim of the current study was to verify the hypothesis that the effects of greenspace exposure vary with differing levels of lung function of children-adolescents. METHODS: Between November 2005 and May 2006, 2150 children-adolescents (age-range: 10-15 years) living in the city of Palermo were enrolled in a cross-sectional survey. Parents were interviewed through a modified version of the Italian Studies on Respiratory Disorders in Children and the Environment (SIDRIA) questionnaire. All children-adolescents performed spirometry and were tested for allergic sensitization. Exposures to greenspace and grey space at the home addresses were measured using the CORINE land-cover classes. Parametric quantile regression models were applied for assessing the association between greenspace exposure and spirometry parameters, accounting for possible confounders and effect modifiers. A p-value lower than 0.05 was considered statistically significant. RESULTS: From the 1st to the 21st percentile, children-adolescents living within greenspace had higher FEV1 than those living within grey space. In particular, the estimated effects were: 1st (ß = 0.238 L, p = 0.01), 5th (ß = 0.140 L, p = 0.01), 10th (ß = 0.097 L, p = 0.015), and 15th (ß = 0.073 L, p = 0.025). Similarly, from the 1st to the 29th percentile, children-adolescents living within greenspace had higher FVC than those living within grey space. In particular, the estimated effects were: 1st (ß = 0.367 L, p = 0.0003), 5th (ß = 0.215 L, p = 0.0003), 10th (ß = 0.150 L, p = 0.0004), and 15th (ß = 0.112 L, p = 0.001). No significant associations were found for FEV1/FVC, FEF25-75 and FEF25-75/FVC. CONCLUSION: Quantile regression techniques may provide new insights into the evaluation of the association between greenspace exposure and lung function in children-adolescents, showing substantially heterogeneous effects from lower to higher quantiles of spirometry parameters. These results may help implementing policies for planning sustainable housing and surrounding greenspaces.
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Parques Recreativos , Doenças Respiratórias , Adolescente , Criança , Estudos Transversais , Humanos , Pulmão , EspirometriaRESUMO
Mothers' knowledge about childhood asthma influences management practices and disease control, but validating knowledge/practice questionnaires is difficult due to the lack of a gold standard. We hypothesized that Latent Class Analysis (LCA) could help identify underlying mother profiles with similar knowledge/practices. A total of 438 mothers of asthmatic children answered a knowledge/practice questionnaire. Using answers to the knowledge/practice questionnaire as manifest variables, LCA identified two classes: Class 1, "poor knowledge" (33%); Class 2, "good knowledge" (67%). Classification accuracy was 0.96. Mothers in Class 2 were more likely to be aware of asthma-worsening factors and indicators of attacks. Mothers in Class 1 were more likely to prevent exposure to tobacco smoke (91.1% vs. 78.8%, p = 0.005). For attacks, mothers in Class 2 were more likely to go to the emergency department and follow the asthma action plan. Mothers in Class 2 more frequently had a high education level (79.5% vs. 65.2%, p = 0.004). Children in Class 2 more frequently had fully controlled asthma (36.7% vs. 25.9%, p = 0.015) and hospitalizations for attacks in the previous 12 months (24.2% vs. 10.7%, p = 0.003). LCA can help discover underlying mother profiles and plan targeted educational interventions.
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Asma , Mães , Asma/prevenção & controle , Criança , Escolaridade , Feminino , Humanos , Análise de Classes Latentes , Inquéritos e QuestionáriosRESUMO
Few data are currently available on the effects of aeroallergens in triggering respiratory symptoms in children. To evaluate the potential effects of daily outdoor aeroallergens loads on childhood admissions, in this case-crossover study, we analyzed data from 85 children hospitalized at the University Hospital of Pisa, Italy, for asthma or asthma-like symptoms without respiratory infection, between 2010 and 2019. Data were linked to outdoor allergens, temperature, nitrogen dioxide, and relative humidity observed during the same period. A 10-grains/m3 increase in the total aeroallergen concentration was associated with an increased risk of admission at lag 0 (OR = 1.054, 95% CI: 1.011-1.098), with a smaller effect at lag 1 (OR = 1.037, 95% CI: 1.008-1.067) and lag 2 (OR = 1.021, 95% CI: 1.003-1.039). Trends to larger effects were observed in children with sensitization to one or more aeroallergens (OR = 1.085, 95% CI: 1.004-1.173 at lag 0), in males (OR = 1.069, 95% CI: 1.009-1.132 at lag 0) and in older children (OR = 1.065, 95% CI: 1.007-1.127 at lag 0). Our study shows an association between increased outdoor allergens loads and asthma or asthma-like symptoms in children up to at least two days prior to hospitalization, suggesting that tracking aeroallergen counts may be useful to improve the management of respiratory allergic diseases.
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Poluentes Atmosféricos , Asma , Poluentes Atmosféricos/análise , Alérgenos/análise , Asma/etiologia , Criança , Estudos Cross-Over , Hospitalização , Humanos , Masculino , Dióxido de NitrogênioAssuntos
Enterite , Eosinofilia , Gastrite , Criança , Análise por Conglomerados , Enterite/diagnóstico , Eosinofilia/diagnóstico , Gastrite/diagnóstico , Humanos , FenótipoRESUMO
Studies investigating the association between urinary Polycyclic Aromatic Hydrocarbons (PAHs) and asthma in children provided inhomogeneous results. We aimed to use Mediation Analysis to discover whether a link between urinary PAHs and lung function exists and if it might be ascribed to a direct or a symptom-mediated (indirect) effect in children with asthma. This single-center prospective study was conducted in Palermo, Italy, between March and July 2017 and involved 50 children with persistent mild-moderate asthma, aged 6-11 years. At each time visit (day 0, 30, 60, and 90), physical examination, spirometry, and urine collection for detection of urinary cotinine and PAHs were performed. A symptom score was computed. The sum of individually calculated molar mass of nine PAH metabolites (ΣPAH), naphthalene metabolites (ΣPAHn) and phenanthrene metabolites (ΣPAHp) were calculated. Three children withdrew from the study due to technical problems (n = 1) and adverse events (n = 2). PAHs indirect effects on FEV1 (ΣPAH: -0.011, p = 0.04; ΣPAHn: -0.011, p = 0.04; ΣPAHp: -0.012, p < 0.001) and FVC (ΣPAH: -0.012, p = 0.02; ΣPAHn: -0.0126, p = 0.02; ΣPAHp: -0.013, p < 0.001) were statistically significant. In conclusion, PAHs exposures have significant indirect (symptom-mediated) effects on lung function, emphasizing the role of PAHs-induced respiratory morbidity in decreasing lung function in children with asthma.
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Asma , Hidrocarbonetos Policíclicos Aromáticos , Asma/induzido quimicamente , Criança , Humanos , Pulmão , Análise de Mediação , Hidrocarbonetos Policíclicos Aromáticos/análise , Estudos ProspectivosRESUMO
STUDY OBJECTIVES: Obstructive sleep apnea (OSA) in children is associated with acute metabolic, cardiovascular, and neurocognitive abnormalities. The long-term outcomes of childhood OSA into adulthood have not been established. We performed a 20-year follow-up of patients with polysomnography-documented OSA in childhood compared to a healthy control group to evaluate the long-term anthropometric, sleep, cognitive, and cardiovascular outcomes. METHODS: Children diagnosed with severe OSA between ages 1 and 17 years (mean, 4.87 ± 2.77) were prospectively contacted by telephone as young adults after approximately 20 years. Data collected included reported anthropometric information, educational level, health history, and Berlin questionnaire scores. RESULTS: Young adults with confirmed severe OSA in childhood had significantly higher adulthood body mass index (P = .038), fewer academic degrees (P < .001), and more snoring (P = .045) compared to control patients. The apnea-hypopnea index during childhood trended toward predicting cardiovascular outcomes and the results of the Berlin questionnaire in adulthood. CONCLUSIONS: Adults with a history of severe childhood OSA have a high risk of snoring, elevated body mass index, and lower academic achievement in adulthood. Thus, children with severe OSA may be at increased risk of chronic diseases later in life. The intervening coronavirus disease 2019 (COVID-19) pandemic has introduced considerable additional neurobehavioral morbidity complicating the identification of the full long-term consequences of childhood OSA. CITATION: Nosetti L, Zaffanello M, Katz ES, et al. Twenty-year follow-up of children with obstructive sleep apnea. J Clin Sleep Med. 2022;18(6):1573-1581.
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COVID-19 , Apneia Obstrutiva do Sono , Adolescente , Adulto , Criança , Pré-Escolar , Seguimentos , Humanos , Lactente , Polissonografia , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/epidemiologia , Ronco/complicações , Ronco/epidemiologiaRESUMO
INTRODUCTION: The diversity of allergic rhinitis (AR) phenotypes is particularly evident in childhood, suggesting the need to analyze and identify new approaches to capture such clinical heterogeneity. Nasal cytology (NC) is a very useful diagnostic tool for identifying and quantifying nasal inflammation. Data-driven approaches such as latent class analysis (LCA) assign subjects to classes based on their characteristics. We hypothesized that LCA based on NC, including the assessment of neutrophils, eosinophils, and mast cells, may be helpful for identifying AR endotypes in children. METHODS: A total of 168 children were enrolled. Sociodemographic characteristics and detailed medical history were obtained from their parents. All children performed NC and skin prick tests. LCA was applied for identifying AR endotypes based on NC, using the R package poLCA. All the statistical analyses were performed using R 4.0.5 software. Statistical significance was set at p ≤ .05. RESULTS: LCA identified two classes: Class 1 (n = 126, 75%): higher frequency of children with moderate/large number of neutrophils (31.45%); almost all the children in this class had no mast cells (91.27%) and Class 2 (n = 42, 25%): higher frequency of children with moderate/large number of eosinophils (45.24%) and moderate/large number of mast cells (50%). CONCLUSIONS: The present study used a machine learning approach for endotyping childhood AR, which may contribute to improve the diagnostic accuracy and to deliver personalized health care in the context of precision medicine.
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Rinite Alérgica Sazonal , Rinite Alérgica , Rinite , Eosinófilos , Humanos , Aprendizado de Máquina , Rinite/diagnóstico , Rinite Alérgica/diagnóstico , Rinite Alérgica Sazonal/diagnóstico , Testes CutâneosRESUMO
Among modern methods of statistical and computational analysis, the application of machine learning (ML) to healthcare data has been gaining recognition in helping us understand the heterogeneity of asthma and predicting its progression. In pediatric research, ML approaches may provide rapid advances in uncovering asthma phenotypes with potential translational impact in clinical practice. Also, several accurate models to predict asthma and its progression have been developed using ML. Here, we provide a brief overview of ML approaches recently proposed to characterize pediatric asthma.
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Asma , Asma/diagnóstico , Asma/terapia , Criança , Humanos , Aprendizado de Máquina , FenótipoRESUMO
Achieving and maintaining asthma control (AC) is the main goal of asthma management. Indoor and outdoor environmental factors may play an important role on AC. The aim of this longitudinal study was to evaluate the association between AC and exposure to greenness and other outdoor or indoor environmental factors in a cohort of asthmatic children. This study involved 179 asthmatic children (5-16 years). Parents were interviewed through a modified version of the SIDRIA questionnaire. AC was assessed at each visit. Exposure to greenness was measured using the normalized difference vegetation index (NDVI). A logistic regression model was applied for assessing risk factors for uncontrolled asthma (UA). Low NDVI exposure was a risk factor for UA (OR: 2.662, 95% CI (1.043-6.799)); children exposed to passive smoke during pregnancy had a higher risk of UA than those non-exposed to passive smoke during pregnancy (OR: 3.816, 95% CI (1.114-13.064)); and a unit increase in the crowding index was associated with an increased risk of UA (OR: 3.376, 95% CI (1.294-8.808)). In conclusion, the current study provided a comprehensive assessment of urban-related environmental exposures on asthma control in children, using multiple indicators of greenness and other outdoor or indoor environmental factors.
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Asma , Poluição por Fumaça de Tabaco , Asma/epidemiologia , Criança , Estudos de Coortes , Exposição Ambiental , Feminino , Humanos , Estudos Longitudinais , GravidezRESUMO
Climate change (CC) is expected to negatively impact respiratory health due to air pollution and increased aeroallergen exposure. Children are among the most vulnerable populations due to high ventilation rates, small peripheral airways, and developing respiratory and immunological systems. To assess the current knowledge among Italian pediatric pulmonologists on the potential effects of CC on pediatric respiratory allergic diseases, a national survey was launched online from February 2020 to February 2021. The members of the Italian Pediatric Respiratory Society (SIMRI) were contacted by email and 117 questionnaires were returned (response rate 16.4%). 72.6% of respondents were females, 53.8% were academic pediatricians, 42.7% had been working >10 years. Most of the participants were aware of the potential health effects of CC and stated that they had noticed an increase in the incidence (90.6%) and severity (67.5%) of allergic respiratory diseases among their patients. About 61% and 41% of participants respectively felt that there had been an increase in the number of children sensitized to pollen and molds. When applying latent class analysis to identify the features characterizing participants with greater awareness and knowledge of CC-related health effects, two classes were identified: almost 60% of the participants were labeled as "poor knowledge" and those with greater awareness were older, had longer work experience, and were those using the Internet to gather information about CC. There is urgent need to increase pediatricians' awareness of the detrimental effects of CC on children's respiratory health and integrate them in the educational programs of healthcare professionals.
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Poluição do Ar , Hipersensibilidade , Hipersensibilidade Respiratória , Poluição do Ar/efeitos adversos , Alérgenos , Criança , Mudança Climática , Feminino , Humanos , Hipersensibilidade/epidemiologia , Hipersensibilidade/etiologia , Masculino , Pneumologistas , Hipersensibilidade Respiratória/epidemiologia , Hipersensibilidade Respiratória/etiologiaRESUMO
INTRODUCTION: Unbalanced dietary intake has been increasingly recognized as an important modifiable risk factor for asthma. In this study, we assessed whether a pro-inflammatory diet is associated with higher asthma burden in three steps: (1) identification of asthma latent classes (LC) based on symptoms, indoor exposures, and pulmonary function; (2) identification of risk factors associated with LC membership; and (3) estimation of the probabilities of LC membership with variation in DII. METHODS: A cross-sectional study on 415 children aged 5-14 years (266 with persistent asthma and 149 controls). LC analysis was performed in asthmatic children. The DII was calculated based on a semiquantitative food frequency questionnaire. Elastic net logistic regression was used to investigate whether increasing DII was associated with worse asthma burden. RESULTS: Two LCs were identified. Children in Class 1, "high burden," had higher symptom burden and worse lung function. Children in Class 2, "low burden," had lower symptom burden and less impaired lung function but were more subject to indoor exposures. DII was the only risk factor significantly associated with Class 1 membership. As the DII increased (from -4.0 to +4.0), the probability of Class 1 membership increased from 32% to 65% when compared with control group, whereas it increased from 41% to 72% when compared with Class 2. CONCLUSIONS: We identified two phenotypes of persistent asthma associated with different disease burden linked to indoor exposures. An increasing DII was associated with high-burden asthma, providing further evidence about the role of a pro-inflammatory diet in asthma morbidity.
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Asma , Inflamação , Estudos Transversais , Dieta/efeitos adversos , Humanos , Inflamação/epidemiologia , Inflamação/etiologia , Análise de Classes Latentes , Fatores de RiscoRESUMO
When investigating disease etiology, twin data provide a unique opportunity to control for confounding and disentangling the role of the human genome and exposome. However, using appropriate statistical methods is fundamental for exploiting such potential. We aimed to critically review the statistical approaches used in twin studies relating exposure to early life health conditions. We searched PubMed, Scopus, Web of Science, and Embase (2011-2021). We identified 32 studies and nine classes of methods. Five were conditional approaches (within-pair analyses): additive-common-erratic (ACE) models (11 studies), generalized linear mixed models (GLMMs, five studies), generalized linear models (GLMs) with fixed pair effects (four studies), within-pair difference analyses (three studies), and paired-sample tests (two studies). Four were marginal approaches (unpaired analyses): generalized estimating equations (GEE) models (five studies), GLMs with cluster-robust standard errors (six studies), GLMs (one study), and independent-sample tests (one study). ACE models are suitable for assessing heritability but require adaptations for binary outcomes and repeated measurements. Conditional models can adjust by design for shared confounders, and GLMMs are suitable for repeated measurements. Marginal models may lead to invalid inference. By highlighting the strengths and limitations of commonly applied statistical methods, this review may be helpful for researchers using twin designs.
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Modelos Estatísticos , Humanos , Modelos LinearesRESUMO
This narrative review aims to provide an overview of the main Machine Learning (ML) techniques and their applications in pharmacogenetics (such as antidepressant, anti-cancer and warfarin drugs) over the past 10 years. ML deals with the study, the design and the development of algorithms that give computers capability to learn without being explicitly programmed. ML is a sub-field of artificial intelligence, and to date, it has demonstrated satisfactory performance on a wide range of tasks in biomedicine. According to the final goal, ML can be defined as Supervised (SML) or as Unsupervised (UML). SML techniques are applied when prediction is the focus of the research. On the other hand, UML techniques are used when the outcome is not known, and the goal of the research is unveiling the underlying structure of the data. The increasing use of sophisticated ML algorithms will likely be instrumental in improving knowledge in pharmacogenetics.