Abstract:
OBJECTIVES:Microvillous inclusion disease (MVID) is a cause of intractable diarrhea in infancy. In its classic form, the disease is characterized by a severe persistent watery diarrhea starting within the first days of life. Parenteral nutrition and small bowel transplantation are the only known treatments for the affected children. Histologically, periodic acid-Schiff (PAS) staining shows accumulation of periodic acid-Schiff-positive staining material along the apical pole of enterocytes, whereas transmission electron microscopy exhibits microvillus inclusion bodies within the cytoplasm of enterocytes with rarefied and shortened microvilli and secretory granules. The objective of this work was to explore clinical, morphological, and genetic findings in cases of MVID with unusual presentations. METHODS:Clinical, histological, and genetic findings are reported for 8 cases of MVID with atypical presentation. RESULTS:The diarrhea started after several months in 3 cases. It was usually less abundant and 3 patients were weaned off parenteral nutrition. None required intestinal transplantation. Three patients experienced malformations, dysmorphy, sensory disabilities, and severe mental retardation. One had a hydrocephaly. Three patients had a cholestasis with low γ-glutamyl transferase levels. Light microscopy showed histological abnormalities consistent with MVID in all of the cases, but the lesions were sometimes focal or delayed. Transmission electron microscopy retrieved some criteria of MVID in 4 patients. Finally, 6 patients were homozygotes or compound heterozygotes for MYO5B mutations. CONCLUSIONS:This study extends the spectrum of MVID to less severe clinical presentations.
journal_name
J Pediatr Gastroenterol Nutrjournal_title
Journal of pediatric gastroenterology and nutritionauthors
Perry A,Bensallah H,Martinez-Vinson C,Berrebi D,Arbeille B,Salomon J,Goulet O,Marinier E,Drunat S,Samson-Bouma ME,Gérard B,Hugot JPdoi
10.1097/MPG.0000000000000526subject
Has Abstractpub_date
2014-12-01 00:00:00pages
779-85issue
6eissn
0277-2116issn
1536-4801journal_volume
59pub_type
杂志文章abstract:BACKGROUND:Immunologic development of soy-fed infants has not been extensively studied. Early studies of soy flour-based formulas showed decreased immunoglobulin production when soy protein intake was limited. However, there were no significant differences in rotavirus vaccine responses between breast-fed and soy prote...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1097/00005176-200202000-00007
更新日期:2002-02-01 00:00:00
abstract:OBJECTIVES:The association between snacking habits and overweight in adolescents is unclear. We evaluated the relation between snacking patterns and overweight/obesity in a cohort of 11- to 13-year-old Italian adolescents. METHODS:The dietary habits of 400 randomly selected adolescents were evaluated; those with body ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000453
更新日期:2014-10-01 00:00:00
abstract:BACKGROUND:Hepatic lesions have been described in Alagille syndrome (ALGS) in isolated case reports, and most of these have been reported to be hepatocellular carcinoma. OBJECTIVES:The aim of the present study was to determine the frequency, imaging, and histopathologic characteristics of hepatic lesions in children w...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000945
更新日期:2016-02-01 00:00:00
abstract:OBJECTIVES:Infant formulas provide more protein than breast milk. High protein intakes may place infants at risk of later obesity. The present study tested whether a formula with protein content below the regulatory level supports normal growth from age 3 months. METHODS:Randomized double-blind trial enrolled healthy ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,随机对照试验
doi:10.1097/MPG.0000000000000881
更新日期:2015-11-01 00:00:00
abstract::Colonoscopy is a routinely performed procedure in children and adolescents. Proper visualization of the intestinal mucosa, completion of the procedure, including examination of the terminal ileum, detection of pathological lesions, and therapeutic maneuvers, all are highly dependent on the quality of the bowel prepara...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/MPG.0b013e3181eb6a1c
更新日期:2010-09-01 00:00:00
abstract:BACKGROUND:Findings in studies in rodents have suggested that epithelial growth of the small intestine is dependent on activation of the immune system. The purpose of this study was to compare changes of postnatal epithelial growth with immunologic activity in humans. METHODS:Duodenal biopsies were obtained by endosco...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199805000-00004
更新日期:1998-05-01 00:00:00
abstract::Although bolus and continuous tube feedings are common, little is known about their effect on the developing small intestine. To compare their effect on small-intestinal growth and differentiation, six pairs of 3-day-old piglet littermates were randomized to receive similar volumes of sow milk replacer, either by bolu...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199404000-00017
更新日期:1994-04-01 00:00:00
abstract:OBJECTIVE:Our previous studies suggested that human milk proteases begin to hydrolyze proteins in the mammary gland and continue within the term infant' stomach. No research has measured milk protease and pepsin activity in the gastric aspirates of preterm infants after human milk feeding. This study investigated how t...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001719
更新日期:2018-02-01 00:00:00
abstract:OBJECTIVES:Rotavirus (RV)-induced diarrhea poses a major health problem, particularly to infants. An effective measure to prevent RV infection is to consume breast milk with higher levels of protective IgA. We therefore examined whether Lactobacillus gasseri SBT2055 (LG2055) could augment immunoglobulin (Ig) A levels a...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3182533a2b
更新日期:2012-07-01 00:00:00
abstract::Inflammatory bowel diseases (IBD) are characterized by the invasion of leukocytes into the intestinal mucosa. However, a mixed inflammatory picture is observed that includes neutrophils, lymphocytes, monocytes, and eosinophils. To this day, the role of eosinophils in health and in disease remains unclear. Investigatio...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/MPG.0b013e3182128512
更新日期:2011-06-01 00:00:00
abstract:OBJECTIVES:The respective role of disease activity and steroid therapy in growth impairment in paediatric-onset Crohn disease (CD) is still debated. Our aim was to investigate whether the growth pattern of children with CD was correlated with the inflammatory status during the disease course, regardless the cumulative ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,多中心研究
doi:10.1097/MPG.0000000000001177
更新日期:2016-12-01 00:00:00
abstract:OBJECTIVE:In 2011, the United States Surgeon General issued a call to action to "identify and address obstacles to greater availability of safe banked donor milk for fragile infants." The purpose of the present study is to analyze patterns in donor human milk (DHM) and fortifier use in level 2, 3, and 4 neonatal facili...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001790
更新日期:2018-04-01 00:00:00
abstract:OBJECTIVES:In this study, we investigated the role of the cannabinoid receptor type 2 (CB2) in the bone loss associated with celiac disease (CD) evaluating the effect of its pharmacological modulation on osteoclast activity. We previously demonstrated a significant association between the CB2 Q63R variant and CD, sugge...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002863
更新日期:2020-11-01 00:00:00
abstract:OBJECTIVES:The aim of the study was to describe the relation between sensory issues and medical complexity in a series of patients presenting to an outpatient multidisciplinary feeding team for evaluation, by a standardized measure of sensory-processing abilities. METHODS:A retrospective chart review of all of the pat...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3182736e19
更新日期:2013-02-01 00:00:00
abstract:BACKGROUND:Recently, sporadic cases of acute hepatitis and fulminant hepatitis caused by hepatitis E virus (HEV) have been reported in Japan. However, few reports have addressed the issue of HEV infection during childhood. METHODS:This study included 5 patients with fulminant hepatitis, 30 patients with acute hepatiti...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/01.mpg.0000188005.81999.32
更新日期:2006-01-01 00:00:00
abstract::Figure 4 summarizes the steps by which Ca2+ and cyclic AMP-mediated secretagogues activate enzyme secretion in the pancreatic acinar cell. CCK and acetylcholine bind to specific plasma membrane receptors and through an as yet incompletely understood mechanism give rise to an elevation in free cytoplasmic Ca2+. A quest...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/00005176-198400031-00004
更新日期:1984-01-01 00:00:00
abstract:OBJECTIVES:The aim of the study was to determine whether embedding into the radiology report a patient-specific plan in the event of gastrojejunostomy (GJ) tube dysfunction reduces the need for after-hours utilization of pediatric interventional radiology resources for the replacement of GJ tubes. MATERIALS AND METHOD...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001267
更新日期:2016-09-01 00:00:00
abstract:OBJECTIVES:Functional gastrointestinal disorders (FGIDs) are common in children. Their pathogenesis remains unknown and is most likely multifactorial. We hypothesized that noninfectious causes of inflammation affecting the gastrointestinal (GI) tract early in life, such as cow's-milk allergy (CMA), can predispose to th...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3181e85b55
更新日期:2011-02-01 00:00:00
abstract::Eighteen infants with severe hypernatremic dehydration secondary to acute gastroenteritis were rehydrated during the 1st day with an oral glucose electrolyte solution containing 60 mmol sodium/L at a mean rate of 120 ml/kg/24 h. These 18 children were safely treated with oral therapy alone. No convulsions were observe...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:
更新日期:1986-03-01 00:00:00
abstract:BACKGROUND AND AIM:Baclofen, a γ-aminobutyric acid receptor agonist, has been shown to reduce the episodes of gastroesophageal reflux (GER) by reducing the incidence of transient lower esophageal sphincter relaxations. Although baclofen has been shown to reduce reflux symptoms in adults, data in pediatric patients are ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3182a2747b
更新日期:2013-12-01 00:00:00
abstract:BACKGROUND AND AIM:Small bowel disease in the paediatric population is varied and to date has relied on indirect l modalities such as small bowel follow-through with attendant radiation exposure. Wireless capsule endoscopy (WCE) has the potential to provide a safer and more effective means of investigating the paediatr...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/01.mpg.0000252196.91707.ff
更新日期:2007-02-01 00:00:00
abstract:OBJECTIVES:The aim of the present study was to describe the prevalence of childhood constipation, stool characteristics, and their relationship with toilet training and age of introduction of cow's milk. METHODS:A total of 4231 children born in 2004, from a birth cohort study, were assessed at 12, 24, and 48 months of...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e318251482b
更新日期:2012-10-01 00:00:00
abstract::Pseudomembranous colitis secondary to C. difficile and its toxin(s) is a well-recognized disease in children and usually responds to treatment with oral vancomycin. There are well-documented reports of relapse in adults after initial successful treatment with vancomycin. This report documents relapse in a child who de...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:
更新日期:1986-03-01 00:00:00
abstract::In a double-blind, placebo-controlled, randomized study we measured the effect of 1 mg/kg intravenous metoclopramide on the gastric emptying of a 15 ml/kg 5% glucose meal, using a phenol red dye dilution technique. In a group of nine infants referred for multiple daily episodes of regurgitation, metoclopramide doubled...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1988-03-01 00:00:00
abstract:INTRODUCTION:Recently, significant interest from families and healthcare providers has arisen to use blenderized tube feedings (BTF). Although many institutions are providing this nutritional option, literature documenting outcomes and safety is lacking. METHODS:A retrospective chart review was performed on pediatric ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002853
更新日期:2020-10-01 00:00:00
abstract:OBJECTIVES:Calprotectin is a calcium- and zinc-binding protein and a marker in faeces of gastrointestinal inflammation. Reference values have been established in children older than 4 years. The aim of the present study was to determine the concentration of faecal calprotectin (FC) in human immunodeficiency virus (HIV)...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e318241a683
更新日期:2012-06-01 00:00:00
abstract:BACKGROUND:The COVID-19 pandemic has drastically changed healthcare systems and training around the world. The Training Committee of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition sought to understand how COVID-19 has affected pediatric gastroenterology fellowship training. METHODS...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002768
更新日期:2020-07-01 00:00:00
abstract:OBJECTIVE:Data suggest an increase in the incidence of pediatric inflammatory bowel disease (IBD). We examined the trend of the incidence of IBD in children. PATIENTS AND METHODS:A retrospective investigation was conducted on a cohort of children diagnosed with IBD between 1991 and 2002 who were registered in the IBD ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3181b99baa
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVES:The response to hepatitis A vaccine has not been studied in children with celiac disease (CD). The aim of the present study was to evaluate the immunogenicity of an inactivated hepatitis A virus (HAV) vaccine and the effect of the human leukocyte antigen (HLA) type on immunogenicity in children with CD. PAT...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e318223b3ed
更新日期:2011-11-01 00:00:00
abstract::Hydrogen gas (H2) is a product of the fermentation of dietary carbohydrate (CHO) by bacteria in the lumen of the gastrointestinal tract in man. Thus, H2 is actually an exogenously produced gas, which either is passed as flatus, or diffuses into the body and is exhaled. In the adult, a fairly constant fraction is expir...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:
更新日期:1983-01-01 00:00:00