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1.
Hum Genet ; 138(11-12): 1301-1311, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31686214

RESUMO

Haploinsufficiency of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a lethal neonatal lung developmental disorder. We describe two similar heterozygous CNV deletions involving the FOXF1 enhancer and re-analyze FOXF1 missense mutation, all associated with an unexpectedly mitigated disease phenotype. In one case, the deletion of the maternal allele of the FOXF1 enhancer caused pulmonary hypertension and histopathologically diagnosed MPV without the typical ACD features. In the second case, the deletion of the paternal enhancer resulted in ACDMPV rather than the expected neonatal lethality. In both cases, FOXF1 expression in lung tissue was higher than usually seen or expected in patients with similar deletions, suggesting an increased activity of the remaining allele of the enhancer. Sequencing of these alleles revealed two rare SNVs, rs150502618-A and rs79301423-T, mapping to the partially overlapping binding sites for TFAP2s and CTCF in the core region of the enhancer. Moreover, in a family with three histopathologically-diagnosed ACDMPV siblings whose missense FOXF1 mutation was inherited from the healthy non-mosaic carrier mother, we have identified a rare SNV rs28571077-A within 2-kb of the above-mentioned non-coding SNVs in the FOXF1 enhancer in the mother, that was absent in the affected newborns and 13 unrelated ACDMPV patients with CNV deletions of this genomic region. Based on the low population frequencies of these three variants, their absence in ACDMPV patients, the results of reporter assay, RNAi and EMSA experiments, and in silico predictions, we propose that the described SNVs might have acted on FOXF1 enhancer as hypermorphs.


Assuntos
Elementos Facilitadores Genéticos , Fatores de Transcrição Forkhead/genética , Mutação de Sentido Incorreto , Síndrome da Persistência do Padrão de Circulação Fetal/prevenção & controle , Polimorfismo de Nucleotídeo Único , Deleção de Sequência , Adulto , Criança , Feminino , Impressão Genômica , Humanos , Recém-Nascido , Síndrome da Persistência do Padrão de Circulação Fetal/genética , Síndrome da Persistência do Padrão de Circulação Fetal/patologia , Fenótipo , Prognóstico
2.
Hum Mutat ; 39(12): 1916-1925, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30084155

RESUMO

Transposable elements modify human genome by inserting into new loci or by mediating homology-, microhomology-, or homeology-driven DNA recombination or repair, resulting in genomic structural variation. Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal neonatal developmental lung disorder caused by point mutations or copy-number variant (CNV) deletions of FOXF1 or its distant tissue-specific enhancer. Eighty-five percent of 45 ACDMPV-causative CNV deletions, of which junctions have been sequenced, had at least one of their two breakpoints located in a retrotransposon, with more than half of them being Alu elements. We describe a novel ∼35 kb-large genomic instability hotspot at 16q24.1, involving two evolutionarily young LINE-1 (L1) elements, L1PA2 and L1PA3, flanking AluY, two AluSx, AluSx1, and AluJr elements. The occurrence of L1s at this location coincided with the branching out of the Homo-Pan-Gorilla clade, and was preceded by the insertion of AluSx, AluSx1, and AluJr. Our data show that, in addition to mediating recurrent CNVs, L1 and Alu retrotransposons can predispose the human genome to formation of variably sized CNVs, both of clinical and evolutionary relevance. Nonetheless, epigenetic or other genomic features of this locus might also contribute to its increased instability.


Assuntos
Cromossomos Humanos Par 16/genética , Variações do Número de Cópias de DNA , Instabilidade Genômica , Síndrome da Persistência do Padrão de Circulação Fetal/genética , Elementos Alu , Evolução Molecular , Fatores de Transcrição Forkhead/genética , Predisposição Genética para Doença , Humanos , Elementos Nucleotídeos Longos e Dispersos , Linhagem , Mutação Puntual
3.
Water Res ; 130: 215-223, 2018 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-29223782

RESUMO

The National Survey of Disinfection By-Products and Selected Emerging Contaminants investigated the formation of various disinfection by-products and contaminants in 65 water treatment systems (WTSs) across Canada. Results for six iodo-trihalomethanes (iodo-THMs) are reported in this paper. The participating water treatment systems included large, medium and small systems using water sources and treatment processes which were representative of Canadian drinking water. Five water samples (source water, treated water and three water samples along the distribution system) were collected from each treatment system, both under winter and summer conditions. Samples were stabilized, shipped cold and analysed for six iodo-THMs (dichloroiodomethane-DCIM; dibromoiodomethane-DBIM; bromochloroiodomethane-BCIM; chlorodiiodomethane-CDIM; bromodiiodomethane-BDIM and triiodomethane or iodoform-TIM), using a SPME-GC-ECD method developed in our laboratory (MDLs from 0.02 µg/L for iodoform to 0.06 µg/L for bromodiiodomethane). Concentrations of relevant precursors like dissolved organic carbon (DOC), bromide, iodide and total iodine, as well as other water quality parameters, were also determined. Detailed information about the treatment process used at each location was recorded using a questionnaire. The survey showed that one or more iodo-THMs were detected at 31 out of 64 water treatment systems (WTSs) under winter conditions and in 46 out of 64 WTSs under summer conditions (analytical results from one site were excluded due to sampling challenges). Total iodo-THM concentrations measured during this survey ranged from 0.02 µg/L to 21.66 µg/L. The highest total iodo-THM concentration was measured in WTS 63 where all six iodo-THMs were detected and iodoform was present in the highest concentration. The highest iodo-THM formation was found to occur in treatment systems where water sources had naturally occurring ammonium as well as high bromide, high iodide and/or total iodine concentrations. In two such water systems the total concentration of iodo-THMs exceeded the concentration of regulated THMs.


Assuntos
Desinfecção/métodos , Água Potável/análise , Hidrocarbonetos Iodados/análise , Trialometanos/análise , Poluentes Químicos da Água/análise , Purificação da Água/métodos , Brometos/química , Canadá , Iodetos/química , Iodo/química , Qualidade da Água
4.
Pediatr Pulmonol ; 51(9): 950-7, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-26716600

RESUMO

BACKGROUND: Asthma is associated with poorer outcomes in sickle cell disease (SCD). Whether AHR can exist in SCD as a distinct entity, separate and independent of asthma, is unknown. AIMS: Our goal was to elucidate the prevalence of AHR, as measured by a methacholine challenge test (MCT), in children with SCD who did not have concomitant asthma or any recent history of acute chest syndrome (ACS). To determine if AHR was associated with asthma-like symptoms, we compared the results of the MCT to a validated asthma questionnaire. We also examined if a correlation between AHR and inflammatory markers exists. METHODS: AHR was identified with a positive MCT defined as a provocation concentration (PC20 ) < 4 mg/ml. The children and/or their parents completed the ISAAC (International Study of Asthma and Allergies in Children) questionnaire. We obtained blood, urine, and exhaled breath condensate samples. We measured cysteinyl leukotriene levels in urine and exhaled breath condensate via enzyme immunoassay. RESULTS: Twenty-nine of forty children (72.5%) had a positive MCT. Nine (31.0%) also reported asthma-like symptoms on questionnaire. Inflammatory markers did not correlate with AHR. Among MCT positive subjects, those on hydroxyurea had significantly less severe AHR as quantified by PC20 (P = 0.014). CONCLUSIONS: In children with SCD, there is a high prevalence of AHR that is not associated with asthma-like symptoms. AHR may be a distinct entity in children with SCD, existing in the absence of concomitant asthma. Hydroxyurea therapy might lessen the severity of AHR in affected individuals. Pediatr Pulmonol. 2016; 51:950-957. © 2015 Wiley Periodicals, Inc.


Assuntos
Anemia Falciforme/complicações , Hiper-Reatividade Brônquica/complicações , Hiper-Reatividade Brônquica/diagnóstico , Adolescente , Anemia Falciforme/metabolismo , Hiper-Reatividade Brônquica/metabolismo , Testes de Provocação Brônquica/métodos , Criança , Cisteína/metabolismo , Feminino , Humanos , Leucotrienos/metabolismo , Masculino , Cloreto de Metacolina , Estudos Prospectivos
5.
Artigo em Inglês | MEDLINE | ID: mdl-24932181

RESUMO

BACKGROUND: Asthma is the most common chronic disease of childhood and a leading cause of childhood morbidity. The aim of the current study was to assess the effectiveness of montelukast administered as monotherapy or in combination with current inhaled corticosteroids (ICS) in pediatric patients with uncontrolled asthma as per the Canadian Asthma Consensus Guidelines. METHODS: Twelve-week, multicentre, open-label, observational study. Primary effectiveness outcome was the proportion of patients achieving asthma control (Asthma Control Questionnaire (ACQ) score ≤0.75) at weeks 4 and 12. RESULTS: A total of 328 patients with uncontrolled asthma (ACQ > 0.75) were enrolled with mean ± SD age of 6.9 ± 3.4 years. Among these, 76 (23.2%) were treated with montelukast monotherapy and 252 (76.8%) with montelukast combined with ICS. By 4 weeks of treatment 61.3% and 52.9% of the patients in the monotherapy and combination group, respectively, achieved asthma control. These proportions increased to 75.0% and 70.9%, respectively, at 12 weeks. Within the monotherapy group, clinically significant improvements in the ACQ score (mean ± SD of 1.67 ± 0.69, 0.71 ± 0.70 and 0.50 ± 0.52 at baseline, 4 and 12 weeks, respectively; p < 0.001) and the PACQLQ score (mean ± SD of 5.34 ± 1.14, 6.32 ± 0.89 and 6.51 ± 0.85 at baseline, 4 and 12 weeks, respectively; p < 0.001) were observed. In the combination group, the mean ± SD ACQ score significantly improved from 2.02 ± 0.83 at baseline to 0.90 ± 0.86 at 4 weeks and 0.64 ± 0.86 at 12 weeks (p < 0.001), while the PACQLQ score improved from 4.42 ± 1.35 at baseline to 5.76 ± 1.30 at 4 weeks and 6.21 ± 1.03 at 12 weeks (p < 0.001). After a 12-week montelukast add-on therapy, 22.6% of patients reduced their ICS dosage. Similar results were observed among preschool- and school-aged patients. CONCLUSIONS: Montelukast as monotherapy or in combination with ICS represents an effective treatment strategy for achieving asthma control in pediatric patients and improving caregivers' quality of life. TRIAL REGISTRATION: This study is registered at ClinicalTrial.gov: NCT00832455.

6.
Environ Sci Technol ; 47(6): 2713-20, 2013 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-23413878

RESUMO

During jar tests on alum-based drinking water treatment, dissolved Al determinations on solutions coagulated at pH ≥ 6.5 were not reproducible. These determinations were performed by inductively coupled plasma mass spectrometry after syringe filtration (0.45 µm polyethersulfone membrane). In order to better define these anomalies, the filtrates were collected in sequential fractions of 7.5 mL. At coagulation pHs of 6.5 and 7.0, retention changes were demonstrated by large filtrate concentration reductions at all temperatures tested (0.1, 5.0, and 17.0 °C). In all cases, the concentrations converged to levels <50 µg/L within the fourth sequential fraction. In comparison, no retention change was observed for jar tests conducted at the same temperatures but in the low range of the minimum solubility domain, at pHs 5.5 and 6.0. The retention changes were also eliminated by precentrifugation (7000 g for 45 min; pH 6.5-7.2). At weaker precentrifugation conditions, as well as by varying membrane surface area or membrane fouling, the filtrate concentrations behaved according to a barrier buildup at the membrane-solution interface by unsettled flocculation residuals. The influence of flocculation time and temperature emphasized the importance of reaction rates, which could be enhanced at the interface by concentration polarization effects. These phenomena have implications on analytical protocols and on filtration in full-scale treatment.


Assuntos
Compostos de Alúmen/química , Alumínio/análise , Filtração/instrumentação , Purificação da Água/instrumentação , Centrifugação , Água Potável/análise , Desenho de Equipamento , Floculação , Concentração de Íons de Hidrogênio , Espectrometria de Massas , Solubilidade
7.
Pediatr Pulmonol ; 48(10): 970-5, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23193110

RESUMO

Short-acting ß2-adrenergic receptor agonists are commonly used bronchodilators for symptom relief in asthmatics. Recent evidence demonstrated that prolonged exposure of cultured airway smooth muscle cells to ß2 agonists directly augments procontractile signaling pathways with the change in expression of regulator of G protein signaling 5 (RGS5). The aim of this study was to test whether genetic variants in RGS5 gene affect the response to short acting ß2-agonists. Bronchodilator responsiveness was assessed in 137 asthmatic children by % change in baseline forced expiratory volume in 1 sec (FEV1 ) after administration of albuterol. The analyses were performed in patients with FEV1 /FVC ratio below 0.9 (FVC-forced vital capacity, n = 99). FEV1 % change adjusted for baseline FEV1 values was significantly different between genotypes of rs10917696 C/T polymorphism (P = 0.008). The association remained significant with inclusion of age, sex, atopy, parental smoking, and controller medications into multivariate model (P = 0.005). We also identified additive effect on the treatment outcome with previously published genetic variant G/A rs1544791 in phosphodiesterase 4 (PDE4D) gene. Carriers of two risk alleles (C and G) had adjusted mean % FEV1 change value 4.6 ± 1.3, while carriers of one and none of the risk alleles had 8.1 ± 0.7% and 13.5 ± 2.4%, respectively, P = 0.001. Our work identifies a new genetic variant in RGS5 demonstrating additive effect with PDE4D, both implicated in modulation of asthma treatment.


Assuntos
Albuterol/uso terapêutico , Asma/tratamento farmacológico , Broncodilatadores/uso terapêutico , Volume Expiratório Forçado/efeitos dos fármacos , Pulmão/fisiopatologia , Proteínas RGS/genética , Adolescente , Asma/genética , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Pulmão/efeitos dos fármacos , Masculino , Polimorfismo Genético , Resultado do Tratamento
8.
Mediators Inflamm ; 2011: 301695, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21876611

RESUMO

Short-acting b2-adrenergic receptor agonists are commonly used bronchodilators for symptom relief in asthmatics. The aim of this study was to test whether genetic variants in PDE4D gene, a key regulator of b2-adrenoceptor-induced cAMP turnover in airway smooth muscle cells, affect the response to short-acting b2-agonists. Bronchodilator responsiveness was assessed in 133 asthmatic children by % change in baseline forced expiratory volume in one second (FEV(1)) after administration of albuterol. The analyses were performed in patients with airway obstruction (FEV(1)/FVC ratio below 90%, n = 93). FEV(1) % change adjusted for baseline FEV(1) values was significantly different between genotypes of rs1544791 G/A polymorphism (P = 0.006) and -1345 C/T (rs1504982) promoter variation (P = 0.03). The association remained significant with inclusion of age, sex, atopy, and controller medication into multivariate model (P = 0.004 and P = 0.02, resp.). Our work identifies new genetic variants implicated in modulation of asthma treatment, one of them (rs1544791) previously associated with asthma phenotype.


Assuntos
Agonistas Adrenérgicos beta/uso terapêutico , Asma/tratamento farmacológico , Asma/enzimologia , Broncodilatadores/uso terapêutico , Nucleotídeo Cíclico Fosfodiesterase do Tipo 4/genética , Polimorfismo Genético , Agonistas Adrenérgicos beta/farmacologia , Broncodilatadores/farmacologia , Criança , Pré-Escolar , Nucleotídeo Cíclico Fosfodiesterase do Tipo 4/metabolismo , Volume Expiratório Forçado/efeitos dos fármacos , Humanos , Testes de Função Respiratória , Capacidade Vital/efeitos dos fármacos
9.
J Pediatr Surg ; 46(5): 829-32, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21616235

RESUMO

BACKGROUND/PURPOSE: The management of asymptomatic congenital lung lesions is controversial. Some centers recommend resection in infancy, and others prefer observation. Our objective was to evaluate the pulmonary function of children who underwent lung resection at 12 months or younger. We hypothesized that these children would not have a significant reduction in pulmonary function when compared with norms for age. METHODS: All patients at 2 tertiary-care children's hospitals who underwent lung resection at 12 months or younger and are currently older than 5 years were identified and prospectively recruited. Pulmonary function testing was standardized in all patients. RESULTS: Fourteen children were tested prospectively, whereas results were available for another 5 children. Four children were excluded for inability to perform pulmonary function testing (n = 2) or for preexisting pulmonary hypoplasia/syndrome (n = 2). Pulmonary function testing values were considered normal if they were more than 80% of predicted. Forced vital capacity was normal in 14 (93%) of 15 children, and forced expiratory volume in 1 second was normal in 13 (86%) of 15 children. Diffusion capacity and respiratory muscle strength were normal in all children tested. CONCLUSIONS: Most children undergoing lung resection in infancy will have normal pulmonary function tests, supporting our philosophy of early, elective resection of congenital lung lesions.


Assuntos
Procedimentos Cirúrgicos Eletivos/estatística & dados numéricos , Pulmão/fisiopatologia , Pneumonectomia/estatística & dados numéricos , Adolescente , Fatores Etários , Criança , Pré-Escolar , Estudos de Coortes , Seguimentos , Volume Expiratório Forçado , Hospitais Pediátricos/estatística & dados numéricos , Hospitais Universitários/estatística & dados numéricos , Humanos , Lactente , Pulmão/anormalidades , Pulmão/cirurgia , Força Muscular , Estudos Prospectivos , Capacidade de Difusão Pulmonar , Quebeque/epidemiologia , Recuperação de Função Fisiológica , Músculos Respiratórios/fisiologia , Capacidade Vital
11.
Pediatr Neurol ; 38(3): 200-6, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18279756

RESUMO

Data reported here were collected over an 8-year period for 79 Duchenne muscular dystrophy patients, 37 of whom were treated with deflazacort. Mean length of treatment was 66 months. Treated boys stopped walking at 11.5 +/- 1.9 years, compared with 9.6 +/- 1.4 years for untreated boys. Cardiac function was better preserved with the use of deflazacort, as shown by a normal shortening fraction in treated (30.8 +/- 4.5%) vs untreated boys (26.6 +/- 5.7%, P < 0.05), a higher ejection fraction (52.9 +/- 6.3% treated vs 46 +/- 10% untreated), and lower frequency of dilated cardiomyopathy (32% treated vs 58% untreated). Scoliosis was much less severe in treated (14 +/- 2.5 degrees ) than in untreated boys (46 +/- 24 degrees ). No spinal surgery was necessary in treated boys. Limb fractures were similarly frequent in treated (24%) and untreated (26%) boys, but vertebral fractures occurred only in the treated group (7/37) (compared with zero for the untreated group). In both groups, body weight excess tripled between the ages of 8 and 12 years. All untreated patients grew normally (>4 cm/year), as opposed to only 15% of treated boys. Deflazacort improves cardiac function, prolongs walking, and seems to eliminate the need for spinal surgery, although vertebral fractures and stunted growth occur. The overall impact on quality of life appears positive.


Assuntos
Anti-Inflamatórios/uso terapêutico , Distrofia Muscular de Duchenne/tratamento farmacológico , Pregnenodionas/uso terapêutico , Adolescente , Adulto , Estatura/efeitos dos fármacos , Peso Corporal/efeitos dos fármacos , Densidade Óssea/efeitos dos fármacos , Catarata/etiologia , Catarata/prevenção & controle , Fraturas Ósseas/etiologia , Fraturas Ósseas/prevenção & controle , Humanos , Estudos Longitudinais , Masculino , Distrofia Muscular de Duchenne/complicações , Escoliose/etiologia , Escoliose/prevenção & controle , Resultado do Tratamento
12.
Allergy Asthma Clin Immunol ; 2(1): 24-38, 2006 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-20529217

RESUMO

BACKGROUND: Guidelines for the diagnosis and management of asthma have been published over the last 15 years; however, there has been little focus on issues relating to asthma in childhood. Since the last revision of the 1999 Canadian Asthma Consensus Report, important new studies, particularly in children, have highlighted the need to incorporate new information into the asthma guidelines. The objectives of this article are to review the literature on asthma published between January 2000 and June 2003 and to evaluate the influence of new evidence on the recommendations made in the 1999 Canadian Asthma Consensus Report and its 2001 update, with a major focus on pediatric issues. METHODS: The diagnosis of asthma in young children and prevention strategies, pharmacotherapy, inhalation devices, immunotherapy, and asthma education were selected for review by small expert resource groups. The reviews were discussed in June 2003 at a meeting under the auspices of the Canadian Network For Asthma Care and the Canadian Thoracic Society. Data published through December 2004 were subsequently reviewed by the individual expert resource groups. RESULTS: This report evaluates early-life prevention strategies and focuses on treatment of asthma in children, emphasizing the importance of early diagnosis and preventive therapy, the benefits of additional therapy, and the essential role of asthma education. CONCLUSION: We generally support previous recommendations and focus on new issues, particularly those relevant to children and their families. This document is a guide for asthma management based on the best available published data and the opinion of health care professionals, including asthma experts and educators.

13.
CMAJ ; 173(6 Suppl): S12-4, 2005 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-16157728

RESUMO

BACKGROUND: Although guidelines for the diagnosis and management of asthma have been published over the last 15 years, there has been little focus on issues relating to asthma in childhood. Since the last revision of the 1999 Canadian asthma consensus report, important new studies, particularly in children, have highlighted the need to incorporate this new information into asthma guidelines. OBJECTIVES: To review the literature on asthma published between January 2000 and June 2003 and to evaluate the influence of new evidence on the recommendations made in the Canadian Asthma Consensus Report, 1999 and its 2001 update with a major focus on pediatric issues. METHODS: Diagnosis of asthma in young children, prevention strategies, pharmacotherapy, inhalation devices, immunotherapy and asthma education were selected for review by small expert resource groups. In June 2003, the reviews were discussed at a meeting under the auspices of the Canadian Network For Asthma Care and the Canadian Thoracic Society. Data published up to December 2004 were subsequently reviewed by the individual expert resource groups. RESULTS: This report evaluates early life prevention strategies and focuses on treatment of asthma in children. Emphasis is placed on the importance of an early diagnosis and prevention therapy, the benefits of additional therapy and the essential role of asthma education. CONCLUSION: We generally support previous recommendations and focus on new issues, particularly those relevant to children and their families. This guide for asthma management is based on the best available published data and the opinion of health care professionals including asthma experts and educators.


Assuntos
Asma/diagnóstico , Asma/tratamento farmacológico , Gerenciamento Clínico , Guias de Prática Clínica como Assunto , Administração por Inalação , Corticosteroides/administração & dosagem , Corticosteroides/uso terapêutico , Asma/prevenção & controle , Broncodilatadores/administração & dosagem , Broncodilatadores/uso terapêutico , Canadá , Criança , Diagnóstico Diferencial , Humanos , Imunoterapia , Educação de Pacientes como Assunto , Pediatria/normas
15.
J Toxicol Environ Health A ; 67(20-22): 1655-66, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15371207

RESUMO

Determinations of particulate Al (pAl), leachable particulate Al (lpAl), and soluble Al (sAl) along the treatment sequence were used to investigate the occurrence of turbidity at drinking-water plants using aluminum coagulation. The behavior of Al species during filtration was normal when sAl remained at a constant level, while pAl was completely eliminated. When sAl was constant while pAl was not completely eliminated, the presence of residual pAl could be attri buted to problems of filtration effectiveness. When sAl decreased during filtration, the residual pAl could also originate from transformations such as precipitation occurring in the filtration media. When sAl increased, the residual pAl could also originate from precipitate detachments. Increases in sAl during filtration or the presence of partially leachable pAl were associated with deteriorations in residual pAl along filtration runs. The presence of nonleachable pAl denoted the existence of different aluminum forms. This was a supplementary indicator of treatment problems and affected the relationship with turbidity. In addition to demonstrating the occurrence of aluminum turbidity, speciation analysis offered a characterization of turbidity and its origin. By contributing to the evidence as well as the understanding of treatment problems, these speciation methodologies can be useful to minimize aluminum turbidity.


Assuntos
Alumínio/química , Poluentes Químicos da Água/análise , Purificação da Água/métodos , Abastecimento de Água/análise , Humanos , Nefelometria e Turbidimetria , Ontário
16.
J Pediatr Surg ; 39(5): 681-4, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15136999

RESUMO

BACKGROUND: Spontaneous pneumomediastinum (SPM) is uncommon in pediatrics. Because of the growing concern about the risks of radiation in children, the authors analyzed whether an extensive radiologic workup influences management and outcome. METHODS: In a retrospective study from 1991 to 2003, 53 patients were diagnosed with SPM. Charts were reviewed for demographics, predisposing factors, presentation, investigation, and evolution. Pneumomediastinum occurring in the neonatal period or related to either pneumothorax, barotrauma, or trauma were excluded. RESULTS: Of 53 cases, 26 (49%) were bronchospasm related, 11 (21%) had respiratory tract infections, and 8 (15%) were idiopathic. Four (7.5%) were caused by inhaled foreign bodies while other causes accounted for the remaining 7.5%. No esophageal perforations were identified. Presentations included dyspnea (64%), subcutaneous emphysema (60%), cough (45%), cervical or chest pain (42%), and Hamman's sign (19%). Postero-anterior chest x-rays (CXR) were diagnostic in all cases except one. Mean number of CXR per hospitalization was 3. Only 3 patients subsequently had pneumothorax, and none required pleural drainage. Of the 8 patients with idiopathic SPM, 5 underwent a barium swallow, and 2 had a chest CT scan; results of all were normal. CONCLUSIONS: More than 70% of SPMs were related to bronchospasm or respiratory tract infections. Idiopathic SPMs deserve more attention because of the concern about esophageal perforation, although most investigations will be negative. SPM usually is a self-limited condition, and prognosis is related to the underlying disorder. Consequently, with clinical improvement, aggressive investigation and follow-up x-ray rarely is warranted.


Assuntos
Mau Uso de Serviços de Saúde , Enfisema Mediastínico/diagnóstico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Doença Iatrogênica , Lactente , Masculino , Enfisema Mediastínico/diagnóstico por imagem , Enfisema Mediastínico/etiologia , Radiografia Torácica , Estudos Retrospectivos , Fatores de Risco
17.
Pediatr Pulmonol ; 37(2): 122-7, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-14730657

RESUMO

This double-blind, placebo-controlled, randomized, parallel-group, multicenter study was conducted in 302 children aged 6-11 years with asthma not optimally treated with inhaled corticosteroids alone. Patients continued with their existing dose of inhaled corticosteroids and in addition received placebo, formoterol 4.5 microg or formoterol 9 microg b.i.d., for 12 weeks (all delivered via Turbuhaler). Terbutaline was available as reliever medication. The primary efficacy variable was change from baseline in morning peak expiratory flow (PEF); secondary efficacy variables included forced expiratory volume in 1 sec (FEV(1)), serial PEF measured over 12 hr, evening PEF, asthma symptom score, and quality of life. Compared with placebo, formoterol 4.5 microg and 9 microg improved morning PEF by 8 l/min (P = 0.035) and 11 l/min (P = 0.0045), respectively. Evening PEF and FEV(1) were also significantly increased compared with placebo, with no statistically significant difference between formoterol doses. Lung-function improvements compared with placebo were greater in the middle of the day. Twelve-hour average serial PEF after 3 months increased by 24 l/min (95% CI, 9, 39 l/min) in the formoterol 9-microg group, and by 14 l/min (95% CI, 0, 29 l/min) in the formoterol 4.5-microg group. The incidence of severe exacerbations in both formoterol groups was numerically lower than in the placebo group, indicating that formoterol may have the potential to improve exacerbation control in children. Both formoterol doses were well-tolerated, and tolerance to the drug's bronchodilator effect was not observed. Formoterol provided sustained improvements in lung function and was well-tolerated in children with asthma suboptimally treated with inhaled corticosteroids alone.


Assuntos
Asma/tratamento farmacológico , Broncodilatadores/administração & dosagem , Glucocorticoides/administração & dosagem , Administração por Inalação , Broncodilatadores/uso terapêutico , Criança , Método Duplo-Cego , Quimioterapia Combinada , Feminino , Glucocorticoides/uso terapêutico , Humanos , Masculino , Nebulizadores e Vaporizadores , Pico do Fluxo Expiratório , Modelos de Riscos Proporcionais , Análise de Sobrevida , Resultado do Tratamento
18.
J Pediatr ; 141(2): 178-85, 2002 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12183711

RESUMO

OBJECTIVES: To compare the absorption of a lysophosphatidylcholine, monoglyceride, and fatty acid matrix (organized lipid matrix, OLM) with that of a triacylglycerol (TG)-based fat meal in patients with cystic fibrosis (CF). STUDY DESIGN: Five adolescents with CF and 3 control patients were given fat meals supplemented with retinyl palmitate of either OLM or TG at a 2-week interval. In a clinical trial, 73 patients with CF were randomly assigned to nutritional supplements containing either OLM or TG for a 1-year double-blind trial followed by a 6-month observation period. RESULTS: The peak increases and areas under the curve for TG and retinyl palmitate after the fat meal were 10-fold higher after OLM than after the TG fat load and did not differ from values obtained in control patients. OLM led to better clinical outcomes in terms of energy intake from the diet, weight-for-age Z score, essential fatty acid status, vitamin E, and retinol binding protein. Height-for-age Z score and FEV(1) only reached statistical significance at the end of the 6-month observation period. CONCLUSIONS: These results suggest that OLM is a readily absorbable source of fat and energy in CF and is an effective nutritional supplement.


Assuntos
Fibrose Cística/dietoterapia , Gorduras na Dieta/metabolismo , Gorduras na Dieta/uso terapêutico , Absorção Intestinal/fisiologia , Adolescente , Adulto , Antropometria , Área Sob a Curva , Canadá , Criança , Proteção da Criança , Diterpenos , Método Duplo-Cego , Eicosanoides/sangue , Ingestão de Energia/efeitos dos fármacos , Ácidos Graxos/sangue , Feminino , Seguimentos , Volume Expiratório Forçado/efeitos dos fármacos , Volume Expiratório Forçado/fisiologia , Humanos , Fígado/enzimologia , Masculino , Malondialdeído/sangue , Cooperação do Paciente , Proteínas de Ligação ao Retinol/metabolismo , Ésteres de Retinil , Fatores de Tempo , Resultado do Tratamento , Triglicerídeos/sangue , Vitamina A/análogos & derivados , Vitamina A/sangue , Vitaminas/sangue , beta Caroteno/sangue
19.
Evolution ; 26(2): 242-250, 1972 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28555730
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