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1.
Artigo em Inglês | MEDLINE | ID: mdl-32740538

RESUMO

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.

2.
Endoscopy ; 51(1): 10-17, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30184608

RESUMO

BACKGROUND: Esophagogastroduodenoscopy (EGD) is the standard method for diagnosis of esophageal and gastric varices in children. In this prospective study we evaluated the use of PillCam esophageal capsule endoscopy (ECE) in pediatric patients. METHODS: Patients aged 7 to 18 years presenting with portal hypertension and/or cirrhosis underwent ECE (PillCam ESO 2, Given Imaging Ltd.) followed by EGD. RESULTS: 102 patients were screened, 81 (52 boys; mean age 13.96 ±â€Š0.25 years) were included and 21 were excluded (16 for "candy test" failure). Esophageal varices were identified by EGD in 62 patients (77 %) and by ECE in 57 patients (70 %) using the de Franchis classification (DFC). The sensitivity of ECE for esophageal varices was 92 % and the specificity was 100 % using DFC. Based upon 57/81 patients with small, medium, and large varices on both ECE and EGD, using DFC, the sensitivity, specificity, positive (PPV) and negative predictive value (NPV) were 55 %, 92 %, 89 %, and 63 %, respectively, giving a total overall accuracy of 72 %. To improve sensitivity and specificity in classification of esophageal varices, we propose using a modified score. This score detected esophageal varices with 100 % sensitivity, 93 % specificity, 94 % PPV, and 100 % NPV, giving a total overall accuracy of 97 %. All patients preferred ECE over EGD. No capsule retention was recorded. CONCLUSIONS: ECE is a well-tolerated and safe procedure in children. Using the modified score, the sensitivity of ECE is currently sufficient to detect esophageal varices and replace EGD in infants with suspicion of esophageal varices or when EGD is refused.


Assuntos
Endoscopia por Cápsula/métodos , Varizes Esofágicas e Gástricas/diagnóstico , Hipertensão Portal/complicações , Cirrose Hepática/complicações , Adolescente , Criança , Endoscopia do Sistema Digestório/métodos , Varizes Esofágicas e Gástricas/etiologia , Feminino , França , Humanos , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
3.
Liver Int ; 39(6): 1136-1146, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30589493

RESUMO

BACKGROUND & AIMS: To identify prognostic factors for liver disease in children with alpha-1 antitrypsin deficiency, irrespective of phenotype, using the DEFI-ALPHA cohort. METHODS: Retrospective, then prospective from 2010, multicentre study including children known to have alpha-1 antitrypsin blood concentration below 0.8 g/L, born in France since 1989. Clinical and biological data were collected. Liver disease was classified as "severe" (portal hypertension, liver failure, liver transplantation or death); "moderate" (persistent abnormal liver biology without portal hypertension); and "mild/none" (normal or almost normal liver biology and native liver). Prognostic factors for severe liver disease were evaluated using a Cox semiparametric model. RESULTS: In January 2017, 153 patients from 19 centres had been included; genotypes were PIZZ in 81.9%, PISZ in 8.1%, other in 10.0%. Mean ± SD follow-up was 4.7 ± 2.1 years. Half of patients had moderate liver disease. Twenty-eight children (18.3%) had severe liver disease (mean age 2.5 years, range: 0-11.6): diagnosis of alpha-1 antitrypsin deficiency was made before two months of age in 65.4%, genotypes were PIZZ in 25 (89.3%), PISZ in 2, PIMlike Z in 1, 15 children underwent liver transplantation, 1 child died at 3 years of age. Neonatal cholestasis was significantly associated with severe liver disease (P = 0.007). CONCLUSION: Alpha-1 antitrypsin-deficient patients presenting with neonatal cholestasis were likely to develop severe liver disease. Some patients with non-homozygous ZZ genotype can develop severe liver disease, such as PISZ and M variants, when associated with predisposing factors. Further genetic studies will help to identify other factors involved in the development of liver complications.


Assuntos
Hepatopatias/sangue , Deficiência de alfa 1-Antitripsina/sangue , alfa 1-Antitripsina/sangue , Criança , Pré-Escolar , Colestase/sangue , Colestase/etiologia , Colestase/patologia , Feminino , França , Genótipo , Humanos , Lactente , Recém-Nascido , Hepatopatias/etiologia , Hepatopatias/patologia , Testes de Função Hepática , Modelos Logísticos , Masculino , Fenótipo , Estudos Prospectivos , Estudos Retrospectivos , Deficiência de alfa 1-Antitripsina/complicações , Deficiência de alfa 1-Antitripsina/patologia
4.
J Pediatr Gastroenterol Nutr ; 68(4): 541-546, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30418416

RESUMO

OBJECTIVES: Inflammatory bowel diseases (IBDs) are chronic diseases which negatively affect the schooling of children. The aim is to analyze school absenteeism and its causes in children followed for IBD. METHODS: A prospective multicenter study of IBD patients aged from 5 to 18 years old, from September 2016 to June 2017. Data on absenteeism and its causes were collected via a monthly questionnaire completed by patients or their family by mail. The results were compared with existing data supplied by the school authorities (497 students without IBD divided by class). RESULTS: A total of 106 patients (62 boys), median age of 14 (5-18), were included. The global response rate was 83.1%. The patients with IBD were absent an average of 4.8% ±â€Š5.5% of school days during the school year, against 3.2% ±â€Š1.6% for non IBD group (P = 0.034). Digestive disorders accounted for 34% of the causes of absenteeism. Approximately 27% of the absences were due to scheduled events (hospitalizations, endoscopy, or consultations). By excluding the absences for scheduled care, the rate of school absenteeism of patients with IBD is significantly lower than that of non-IBD group. CONCLUSION: Children with IBD are more frequently absent from school than non-IBD group. The main cause of school absenteeism appears to be associated with the disease itself. The share of scheduled absenteeism is quite large. The organization and scheduling of the patients' care path must be a priority to maximally limit the negative impact of their disease on the patients' schooling.


Assuntos
Absenteísmo , Doenças Inflamatórias Intestinais/psicologia , Instituições Acadêmicas , Estresse Psicológico , Adolescente , Criança , Pré-Escolar , Feminino , França , Humanos , Masculino , Estudos Prospectivos , Inquéritos e Questionários
5.
Mol Genet Metab ; 124(3): 228-235, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29759592

RESUMO

Congenital disorders of glycosylation (CDG) linked to defects in Golgi apparatus homeostasis constitute an increasing part of these rare inherited diseases. Among them, COG-CDG, ATP6V0A2-CDG, TMEM199-CDG and CCDC115-CDG have been shown to disturb Golgi vesicular trafficking and/or lumen pH acidification. Here, we report 3 new unrelated cases of CCDC115-CDG with emphasis on diagnosis difficulties related to strong phenotypic similarities with mitochondriopathies, Niemann-Pick disease C and Wilson Disease. Indeed, while two individuals clinically presented with early and severe liver fibrosis and cirrhosis associated with neurological symptoms, the other one "only" showed isolated and late severe liver involvement. Biological results were similar to previously described patients, including hypercholesterolemia, elevated alkaline phosphatases and defects in copper metabolism. CDG screening and glycosylation study finally led to the molecular diagnosis of CCDC115-CDG. Besides pointing to the importance of CDG screening in patients with unexplained and severe liver disease, these reports expand the clinical and molecular phenotypes of CCDC115-CDG. The hepatic involvement is particularly addressed. Furthermore, hypothesis concerning the pathogenesis of the liver disease and of major biological abnormalities are proposed.


Assuntos
Defeitos Congênitos da Glicosilação/complicações , Complexo de Golgi/genética , Hepatopatias/etiologia , Mutação , Proteínas do Tecido Nervoso/genética , Adulto , Defeitos Congênitos da Glicosilação/genética , Defeitos Congênitos da Glicosilação/patologia , Feminino , Glicosilação , Complexo de Golgi/metabolismo , Complexo de Golgi/patologia , Humanos , Recém-Nascido , Hepatopatias/patologia , Masculino , Prognóstico , Adulto Jovem
6.
Ann Surg ; 264(6): 1004-1008, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26720426

RESUMO

OBJECTIVE: To study the prevalence of Barrett esophagus (BE) (gastric and/or intestinal metaplasia) in adolescents treated for esophageal atresia (EA). SUMMARY OF BACKGROUND DATA: EA patients are at high risk of BE. METHODS: This multicenter prospective study included EA patients aged 15 to 19 years. All eligible patients were proposed an upper endoscopy with multistaged esophageal biopsies under general anesthesia. Histological suspicion of metaplasia was confirmed centrally. RESULTS: One hundred twenty patients [mean age, 16.5 years (±1.4)] were included; 70% had been treated for gastroesophageal reflux disease (GERD) during infancy. At evaluation, 8% were undernourished, 41% had received antireflux surgery, and 41% presented with GERD symptoms, although only 28% were receiving medical treatment. Esophagitis was found at endoscopy in 34% and confirmed at histology in 67%. BE was suspected after endoscopy in 37% and was confirmed by histology for 43% of patients (50 gastric and 1 intestinal metaplasia). No endoscopic or histological anomalies were found at the anastomosis site. BE was not significantly related to clinical symptoms. In multivariate analysis, BE was associated with EA without fistula (P = 0.03), previous multiple antireflux surgery (P = 0.04), esophageal dilation (P = 0.04), suspicion of BE at endoscopy (P < 0.001), and histological esophagitis (P = 0.02). CONCLUSIONS: Patients with EA are at high risk of persistent GERD and BE. The development of BE is related to GERD history. Long-term systematic follow-up of the esophageal mucosa including multistaged biopsies is required, even in asymptomatic patients. (NCT02495051).


Assuntos
Esôfago de Barrett/epidemiologia , Atresia Esofágica/cirurgia , Adolescente , Biópsia , Esofagite/complicações , Esofagoscopia , Feminino , França/epidemiologia , Refluxo Gastroesofágico/complicações , Humanos , Masculino , Prevalência , Estudos Prospectivos , Adulto Jovem
7.
J Pediatr Gastroenterol Nutr ; 48(4): 498-500, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19322061

RESUMO

The present report describes AIRE gene analysis in 25 children with autoimmune hepatitis type I or II. The heterozygous transversion c.961C > G (p.Ser278Arg) located in exon 7 was identified in 4 patients with autoimmune hepatitis type I, and mostly in those presenting with a positive family history for autoimmune diseases. In this subgroup of patients, the allelic frequency of this polymorphic variant was at least 3-fold higher than in healthy controls. These results suggest that heterozygous AIRE gene mutation may represent a genetic predisposition to childhood autoimmune hepatitis type I.


Assuntos
Predisposição Genética para Doença , Hepatite Autoimune/genética , Fatores de Transcrição/genética , Adolescente , Criança , Pré-Escolar , Éxons , Feminino , Frequência do Gene , Heterozigoto , Humanos , Mutação Puntual , Polimorfismo Genético , Análise de Sequência de DNA
8.
Clin Gastroenterol Hepatol ; 2(9): 825-30, 2004 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15354284

RESUMO

BACKGROUND AND AIMS: Autoimmune hepatitis (AIH) type 2 is identified by the presence in the serum of anti-liver/kidney microsome type 1 autoantibody. Anti-liver cytosol autoantibody has been reported in children with autoimmune liver disorders mostly in association with anti-liver/kidney microsome reactivity. However, its role as a sole marker of AIH type 2 is debated. We describe here a series of 18 children and adolescents (15 girls, 3 boys) with AIH with serum anti-liver cytosol type 1 (aLC1) as the only autoimmune marker. METHODS: A retrospective review was conducted from 3 pediatric hepatology units of all children with an autoimmune liver disease associated with aLC1 as found by immunofluorescence and/or immunodiffusion or immunoblotting. RESULTS: Age at first symptoms ranged from 11 months to 14 years; 12 children presented with acute hepatitis, 1 with progressive jaundice, and 5 were asymptomatic. Anti-liver/kidney microsome, antimitochondria, and anti-actin autoantibodies were not detected. Signs of cirrhosis were present in 11 children. Immunosuppressive treatment was effective in all except 2 children who had subfulminant hepatic failure and who required liver transplantation. Sixteen patients (14 with their native liver) currently are alive; 14 patients still are on immunosuppressive therapy after 1 to 22 years. According to the international scoring system for the diagnosis of AIH, 16 patients corresponded to a definite diagnosis and 2 corresponded to a probable diagnosis. CONCLUSIONS: The presence of aLC1 in children with acute or chronic liver disease of unknown origin strongly supports a diagnosis of AIH and is an indication for early immunosuppressive therapy.


Assuntos
Autoanticorpos/sangue , Hepatite Autoimune/diagnóstico , Adolescente , Biomarcadores/sangue , Criança , Pré-Escolar , Feminino , Imunofluorescência , Glucocorticoides/uso terapêutico , Hepatite Autoimune/tratamento farmacológico , Hepatite Autoimune/imunologia , Humanos , Lactente , Masculino , Prednisona/uso terapêutico , Protrombina , Estudos Retrospectivos
9.
Eur J Pediatr ; 163(8): 482-4, 2004 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15150658

RESUMO

UNLABELLED: Pancreatic pseudocysts (PPCs) develop in 10% to 30% of children with acute pancreatitis. PPCs that impinge on neighbouring structures, cause pain, or fail to undergo spontaneous resolution must be drained. Surgery and percutaneous aspiration are the most widely used techniques for draining PPCs. We successfully performed an endoscopic drainage in a 17-month-old boy. A nasobiliary catheter was inserted via the gastric wall under endoscopic guidance to drain an 8 cm PPC of unknown origin responsible for pain, ascites, and displacement of the stomach with vomiting. The cyst collapsed. Eighteen months later, the child had no symptoms or abnormalities by laboratory testing or ultrasonography. Whereas endoscopic drainage is widely used to treat PPC in adults, only five paediatric cases have been published. CONCLUSION: as compared to surgery, endoscopic drainage has provided similar efficacy and recurrence rates, with less morbidity.


Assuntos
Drenagem/métodos , Endoscopia do Sistema Digestório , Pseudocisto Pancreático/terapia , Humanos , Lactente , Masculino , Pseudocisto Pancreático/diagnóstico
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