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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.
Endosc Int Open ; 8(7): E830-E833, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32617387

RESUMO

Background and study aims Eosinophilic esophagitis (EoE) is a chronic immune disease with increasing incidence. It is clinically defined by symptoms of esophageal dysfunction and histologically by eosinophilic polynuclear cell infiltration of the esophageal mucosa. Symptoms are not specific and include gastroesophageal reflux disease (GERD), dysphagia, vomiting or dietary blockages. Chronic inflammation of the mucosa may lead to narrowing of the esophageal lumen responsible for impactions. Extraction procedures can be complicated by dissection and perforation. Rare spontaneous ruptures of the esophagus known as Boerhaave syndrome are also possible. We report five cases of esophageal perforation in children with EoE, three with spontaneous rupture and two after an endoscopic procedure. The evolution was favorable under medical treatment.

3.
Sante Publique ; Vol. 31(1): 61-70, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31210518

RESUMO

INTRODUCTION: In order to limit the risk of food allergies, it is recommended to begin complementary feedings for infants between the ages of 4 and 6 months old. The objective of this study is to describe how complementary feedings are carried out until the age of 1 year old and to analyze criteria, especially socio-economic, that influence compliance with recommendations. METHODS: This observational and descriptive quantitative study lasted from November 21st, 2016 to February 21st, 2017 and took place in 10 doctor's offices around the city of Saint-Etienne. Anonymous surveys were distributed to the mothers of children aged between 12 and 47 months old inclusive, born at term, and with a weight above 2.5 kg. RESULTS: More than 2/3rds of the 163 children included started complementary feedings between 4 and 6 months old. Gluten (P = 0.02) and meat (P = 0.016) were introduced later and infant formulas (P = 0.005) were stopped sooner when the mother's education level was low. The average number of fruit and vegetables was smaller when the mother had a low socio-economic level or if she was multiparous. At the age of one, fewer than 20% of the children had consumed fat content rich in omega-3. At the same age, 70% had consumed egg and 12.3% nuts, which are some of the major allergens. CONCLUSION: These outcomes show the need for general practitioners to inform parents, especially those with a low socio-economic level, about early food introduction, including allergens.


Assuntos
Ingestão de Alimentos/fisiologia , Alimentos Infantis , Cooperação do Paciente/estatística & dados numéricos , Pré-Escolar , Feminino , Humanos , Lactente , Fenômenos Fisiológicos da Nutrição do Lactente , Produtos da Carne , Mães/estatística & dados numéricos , Fatores Socioeconômicos , Verduras
4.
Hum Mutat ; 38(12): 1660-1665, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28945313

RESUMO

Exocrine pancreatic insufficiency (EPI) is rare in children, with most if not all cases occurring as part of syndromic conditions such as cystic fibrosis and Shwachman-Diamond syndrome. Here we report two cases, both presenting with severe EPI around 5 months of age. Characterized by diffuse pancreatic lipomatosis, they otherwise exhibited no remarkable deficiencies in other organs. Novel non-identical homozygous variants (a deletion removing the entire SPINK1 gene and an insertion of a full-length inverted Alu element into the 3'-untranslated region of the SPINK1 gene) resulting in the complete functional loss of the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor) were identified in each patient. Having correlated our findings with current knowledge of SPINK1's role in exocrine pancreas pathophysiology, we propose that complete and partial functional losses of the SPINK1 gene are associated with quite distinct phenotypes, the former causing a new pediatric disease entity of severe infantile isolated EPI.


Assuntos
Doenças da Medula Óssea/genética , Fibrose Cística/genética , Insuficiência Pancreática Exócrina/genética , Lipomatose/genética , Inibidor da Tripsina Pancreática de Kazal/genética , Elementos Alu/genética , Doenças da Medula Óssea/diagnóstico por imagem , Doenças da Medula Óssea/fisiopatologia , Fibrose Cística/diagnóstico por imagem , Fibrose Cística/fisiopatologia , Insuficiência Pancreática Exócrina/diagnóstico por imagem , Insuficiência Pancreática Exócrina/fisiopatologia , Feminino , Predisposição Genética para Doença , Homozigoto , Humanos , Lactente , Lipomatose/diagnóstico por imagem , Lipomatose/fisiopatologia , Imagem por Ressonância Magnética , Mutagênese Insercional , Pancreatopatias/diagnóstico por imagem , Pancreatopatias/genética , Pancreatopatias/fisiopatologia , Fenótipo , Deleção de Sequência , Síndrome de Shwachman-Diamond , Inibidor da Tripsina Pancreática de Kazal/metabolismo
5.
Clin Res Hepatol Gastroenterol ; 40(6): e65-e67, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27720179

RESUMO

Congenital short-bowel syndrome (CSBS) is a rare neonatal pathology associated with poor prognosis and high mortality rate. We describe a newborn presenting CSBS intestinal malrotation and chronic intestinal pseudo-obstruction syndrome (CIPS), compound heterozygous for two previously unreported heterozygous mutations in Coxsackie and adenovirus receptor-like membrane protein (CLMP) gene, one in intron 1 (c.28+1G>C), the other on exon 4 (c502C>T, p.R168X). Both mutations are predicted to be pathogenic, leading to impaired splicing and the appearance of a premature stop codon, respectively. Our case is remarkable in that it concerns two heterozygous truncating mutations associated with a good clinical prognosis with a favorable cerebral and gastrointestinal outcome and a substantial enteral input at 8 months of age, despite a small intestine measuring only 35cm.


Assuntos
Proteína de Membrana Semelhante a Receptor de Coxsackie e Adenovirus/genética , Pseudo-Obstrução Intestinal/genética , Mutação , Éxons , Feminino , Heterozigoto , Humanos , Recém-Nascido , Volvo Intestinal/genética , Íntrons
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