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Artigo em Inglês | MEDLINE | ID: mdl-32740538


OBJECTIVES: Crohn disease (CD) can affect patient's quality of life (QOL) with physical, social, and psychological impacts. This study aimed to investigate the QOL of children with CD and its relationship with patient and disease characteristics. METHODS: Children ages from 10 to 17 years with diagnosed CD for more than 6 months were eligible to this cross-sectional study conducted in 35 French pediatric centers. QOL was assessed by the IMPACT-III questionnaire. Patient and disease characteristics were collected. RESULTS: A total of 218 children (42% of girls) were included at a median age of 14 years (interquartile range [IQR]: 13--16). Median duration of CD was 3.2 years (IQR: 1.7-5.1) and 63% of children were in clinical remission assessed by wPCDAI. Total IMPACT-III score was 62.8 (±11.0). The lowest score was in "emotional functioning" subdomain (mean: 42.8 ±â€Š11.2). Clinical remission was the main independent factor associated with QOL of children with CD (5.74 points higher compared with those "with active disease", 95% confidence interval [CI] 2.77--8.70, P < 0.001). Age of patient at the evaluation was found negatively correlated with QOL (-0.76 per year, 95% CI: -1.47 to -0.06, P = 0.009). Presence of psychological disorders was associated with a lower QOL (-9.6 points lower to those without, 95% CI: -13.34 to -5.86, P < 0.0001). Total IMPACT-III and its subdomains scores were not related to sex, disease duration, or treatments. CONCLUSIONS: These results not only confirm that clinical remission is a major issue for the QOL of patients, but also highlights the importance of psychological care.

Artigo em Inglês | MEDLINE | ID: mdl-30275089


Methicillin-resistant Staphylococcus aureus (MRSA) infection has increased in recent years among cystic fibrosis (CF) patients. Linezolid (LZD) is one of the antistaphylococcal antibiotics widely used in this context. Although LZD resistance is rare, it has been described as often associated with long-term treatments. Thirteen MRSA strains isolated over 5 years from one CF patient were studied for LZD resistance emergence and subjected to whole-genome sequencing (WGS). Resistance emerged after three 15-day LZD therapeutic regimens over 4 months. It was associated with the mutation of G to T at position 2576 (G2576T) in all 5 rrl copies, along with a very high MIC (>256 mg/liter) and a strong increase in the generation time. Resistant strains isolated during the ensuing LZD therapeutic regimens and until 13 months after LZD stopped harbored only 3 or 4 mutated rrl copies, associated with lower MICs (8 to 32 mg/liter) and low to moderate generation time increases. Despite these differences, whole-genome sequencing allowed us to determine that all isolates, including the susceptible one isolated before LZD treatment, belonged to the same lineage. In conclusion, LZD resistance can emerge rapidly in CF patients and persist without linezolid selective pressure in colonizing MRSA strains belonging to the same lineage.

Fibrose Cística/microbiologia , Interações Hospedeiro-Patógeno/genética , Linezolida/uso terapêutico , Staphylococcus aureus Resistente à Meticilina/efeitos dos fármacos , Infecções Estafilocócicas/microbiologia , Farmacorresistência Bacteriana/efeitos dos fármacos , Farmacorresistência Bacteriana/genética , Evolução Molecular , Genoma Bacteriano , Interações Hospedeiro-Patógeno/efeitos dos fármacos , Humanos , Staphylococcus aureus Resistente à Meticilina/genética , Staphylococcus aureus Resistente à Meticilina/isolamento & purificação , Filogenia , Polimorfismo de Nucleotídeo Único , Infecções Estafilocócicas/tratamento farmacológico , Fatores de Tempo
Biochem Cell Biol ; 93(1): 28-37, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25403292


This study combines a clinical approach and multiple level cellular analyses to determine the physiopathological consequences of the c.1392G>T (p.Lys464Asn) CFTR exon 10 mutation, detected in a CF patient with a frameshift deletion in trans and a TG(11)T(5) in cis. Minigene experiment, with different TG(m)T(n) alleles, and nasal cell mRNA extracts were used to study the impact of c.1392G>T on splicing in both in cellulo and in vivo studies. The processing and localization of p.Lys464Asn protein were evaluated, in cellulo, by western blotting analyses and confocal microscopy. Clinical and channel exploration tests were performed on the patient to determine the exact CF phenotype profile and the CFTR chloride transport activity. c.1392G>T affects exon 10 splicing by inducing its complete deletion and encoding a frameshift transcript. The polymorphism TG(11)T(5) aggravates the effects of this mutation on aberrant splicing. Analysis of mRNA obtained from parental airway epithelial cells confirmed these in cellulo results. At the protein level the p.Lys464Asn protein showed neither maturated form nor membrane localization. Furthermore, the in vivo channel tests confirmed the absence of CFTR activity. Thus, the c.1392G>T mutation alone or in association with the TG repeats and the poly T tract revealed obvious impacts on splicing and CFTR protein processing and functionality. The c.[T(5); 1392G>T] complex allele contributes to the CF phenotype by affecting splicing and inducing a severe misprocessing defect. These results demonstrate that the classical CFTR mutations classification is not sufficient: in vivo and in cellulo studies of a possible complex allele in a patient are required to provide correct CFTR mutation classification, adequate medical counseling, and adapted therapeutic strategies.

Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Processamento de RNA , RNA Mensageiro/genética , Alelos , Éxons , Genótipo , Humanos , Mutação , Fenótipo , Polimorfismo Genético , Deleção de Sequência
Rheumatology (Oxford) ; 49(9): 1694-8, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20472717


OBJECTIVES: To identify juvenile idiopathic arthritis (JIA) patients who developed IBD during treatment with anti-TNF-alpha agents and better characterize the IBD clinical and pathological presentation. METHODS: A retrospective French multicentre study included patients with a diagnosis of JIA according to the ILAR criteria who developed IBD while under anti-TNF-alpha therapy before 18 years of age. Intestinal biopsies were collected and reviewed by the same pathologist. RESULTS: Eight patients were included. They had been treated with etanercept from 11 to 78 months before IBD onset. Gastro-intestinal symptoms included abdominal pain (six patients), diarrhoea (four patients), anorexia (four patients), anal abscess (three patients) and oral ulcers (one patient). Five patients presented with Crohn's disease (CD) and three with indeterminate IBD, of whom four had severe pancolitis. Clinical remission of IBD was obtained in all patients after discontinuation of etanercept and initiation of IBD-specific therapy, including infliximab in six patients. CONCLUSION: IBD must be suspected in JIA patients treated with etanercept who develop intestinal symptoms, including anal abscess. This series raises the possibility of a relationship between etanercept therapy and the occurrence of IBD in a subset of patients with JIA.

Antirreumáticos/efeitos adversos , Artrite Juvenil/tratamento farmacológico , Doenças Inflamatórias Intestinais/induzido quimicamente , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Adolescente , Artrite Juvenil/fisiopatologia , Criança , Pré-Escolar , Feminino , França , Humanos , Doenças Inflamatórias Intestinais/fisiopatologia , Masculino , Estudos Retrospectivos , Inquéritos e Questionários , Fatores de Tempo , Fator de Necrose Tumoral alfa/efeitos adversos
Diagn Microbiol Infect Dis ; 52(1): 65-6, 2005 May.
Artigo em Inglês | MEDLINE | ID: mdl-15878445


We reported the case of a child who died of purpura fulminans. The diagnosis of Neisseria meningitidis serogroup C could be assessed using postmortem specimens collected up to 10 h after death. We were able to identify the bacteria by culture and/or PCR on samples without having autopsy performed. Soluble antigens were also detected in serum.

Autopsia , Infecções Meningocócicas/diagnóstico , Neisseria meningitidis Sorogrupo C/isolamento & purificação , Púrpura de Schoenlein-Henoch/diagnóstico , Sepse/diagnóstico , Antígenos de Bactérias/sangue , Meios de Cultura , Evolução Fatal , Humanos , Lactente , Masculino , Infecções Meningocócicas/microbiologia , Neisseria meningitidis Sorogrupo C/genética , Reação em Cadeia da Polimerase , Púrpura de Schoenlein-Henoch/microbiologia , Sepse/microbiologia , Manejo de Espécimes/métodos