A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa).

A perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm composed of perivascular epithelioid cells with distinctive histologic, immunohistochemical, and genetic features. PEComas arising from various anatomical sites have been reported, but gastrointestinal PEComas are extremely rare entities. Here, we discuss the clinical and pathological features of a gastrointestinal PEComa with a transcription factor E3 (TFE3) translocation in a 17-year old adolescent male with a clinical presentation of abdominal pain and gastrointestinal bleeding. Our case report provides insight into this rare entity as well as discusses the pathophysiological aspects of TFE3-SFPQ-associated GI PEComas and their management.

Uneven Distribution of Microgranules in Divided Lansoprazole Tablets.

OBJECTIVES: Lansoprazole is a proton pump inhibitor commonly used in children <12 months of age despite a lack of efficacy and safety data in this age group. To achieve lower doses in this population, many divide standard oral disintegrating tablets. This study seeks to determine if the medication is equally distributed within the tablet to allow for accurate dosing. METHODS: Ten 15-mg Prevacid SoluTabs were divided. Each portion was dissolved separately (half A, B, and the residual "dust" C) and photographed. A magnified view of the image allowed for counting each microgranule. RESULTS: The mean number and standard deviation of microgranules in half A, B, and part C were 2514.7 ±â€Š130.5, 2342.9 ±â€Š130.1, and 49.4 ±â€Š38.8, respectively. The total number of microgranules per tablet was 4907 ±â€Š140.5. There was a statistically significant difference in the mean number of microgranules in half A versus B (P = 0.0086). CONCLUSIONS: There are statistically significant differences in the amount of lansoprazole-containing microgranules within each half of a divided tablet. Clinicians must determine whether this difference is clinically relevant when prescribing "divided" medication to children.

Eosinophilic esophagitis in children.

Eosinophilic esophagitis (EoE) is a relatively common chronic immune-mediated disease of the esophagus characterized clinically by symptoms of esophageal dysfunction that vary by age. Histologically, EoE results in marked esophageal eosinophilia despite treatment with high-dose proton pump inhibition. The cornerstone of treatment is dietary restriction and/or pharmacologic therapy, mainly with topical steroids. This review briefly describes dietary therapy, but focuses on the various medical options in the treatment of EoE, with an emphasis on steroid-based therapy. Numerous landmark studies are reviewed describing the symptomatic and histologic endpoints as well as safety data. The literature strongly supports the use of topical steroid therapy as a means of significantly decreasing eosinophilic mucosal disease. Specifically, high-dose fluticasone propionate appears to be very effective, and has been shown to result in the resolution of mucosal eosinophilia in a large percentage of treated patients. Long-term studies over many years will need to determine whether mucosal healing will change the natural history of this stricture-causing disease. In addition to topical therapy, various other drug-based therapies are reported, including newer immune-based monoclonal antibodies.

Correlation of health-related quality of life in children with inflammatory bowel disease, their parents, and physician as measured by a visual analog scale.

BACKGROUND AND AIMS: Inflammatory bowel disease has been shown to affect children's health-related quality of life (HRQOL) through the use of lengthy questionnaires. We examined whether a pediatric patient's HRQOL, measured by a rapid visual analog scale ("feeling thermometer"), correlates with the perceptions of the HRQOL as determined by the patient's pediatric gastroenterologist and parent(s). Additionally, we attempted to determine whether the HRQOL correlates with the patient's disease activity as determined by validated activity indices. METHODS: A cross-sectional study of pediatric patients (ages 7-21 years) who were diagnosed as having Crohn disease, ulcerative colitis, or indeterminate colitis was conducted from January 2011 to May 2011. Each participant (patient, parent(s), and treating pediatric gastroenterologist) completed feeling thermometers to determine the symptom burden as well as therapeutic burden of the patient. The parent(s) and doctor were blinded to the patient's results. Pediatric Ulcerative Colitis Activity Index or a Short Pediatric Crohn Disease Activity Index (S-PCDAI) was calculated. Correlations between the participant's perceived burdens as well as their calculated disease activity were determined. RESULTS: Sixty-seven children and their families participated, resulting in 101 visits. Patients had a mean age of 15.0 years, and there were 38 boys. There was a strong significant correlation between the patient's perceived symptom burden and that of the parent's (ρ 0.59, P < 0.001) and physician (ρ 0.48, P < 0.001). Similarly, there was a strong significant correlation between patient's perceived treatment burden and that of the parent treatment burden (ρ 0.49, P < 0.001) and, to a lesser degree, the physician (ρ 0.29, P < 0.003). The correlation coefficient was strongest between the physician's perception of the patient's symptom burden against the standard disease activity indices Pediatric Ulcerative Colitis Activity Index (ρ 0.69, P < 0.001) and Short Pediatric Crohn Disease Activity Index (ρ 0.65, P < 0.001). CONCLUSIONS: The patient's HRQOL was highly correlated to both the physician's and parent's perceptions as well as their disease activity. The feeling thermometer is a quick, easy-to-use, visual analog scale that can be implemented in everyday practice to measure a pediatric patient's HRQOL.

Use of enteral nutrition for the control of intestinal inflammation in pediatric Crohn disease.

Exclusive enteral nutrition is an effective yet often underused therapy for the induction of remission in pediatric Crohn disease. The North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition formed the Enteral Nutrition Working Group to review the use of enteral nutrition therapy in pediatric Crohn disease. The group was composed of 5 pediatric gastroenterologists and 1 pediatric nutritionist, all with an interest and/or expertise in exclusive enteral nutrition. Specific attention was placed upon review of the evidence for efficacy of therapy, assessment of the variations in care, identification of barriers to its widespread use, and compilation of the necessary components for a successful program. The present guideline is intended to aid physicians in developing an enteral nutrition therapy program and potentially promote its use.

Benign transient hyperphosphatasemia in infants and children: a prospective cohort.

A total of 20 children with benign transient hyperphosphatasemia were prospectively evaluated with no additional investigations recommended except repeat serologic evaluation in 2-3 months. The average age of our patients was 2.5 years (range 1 year 2 months-5 years 10 months). The serum levels of alkaline phosphatase averaged 2383 IU/L (range 1013-5700 IU/L). Levels returned to normal within several months. This condition should be recognized by the clinician in order not to put patients through lengthy, expensive and unnecessary investigations.

Long-term efficacy of low-dose tricyclic antidepressants for children with functional gastrointestinal disorders.

OBJECTIVE: The aim of the study was to determine the long-term efficacy of the tricyclic antidepressant (TCA) drugs amitriptyline or imipramine in treating functional gastrointestinal disorders (FGIDs) in pediatric patients. MATERIALS AND METHODS: A retrospective chart review of children with a diagnosis of irritable bowel syndrome, functional dyspepsia, and functional abdominal pain diagnosed on the basis of the Rome III criteria was performed. Charts were analyzed for response to the medication and the duration of the response. RESULTS: A total of 98 patients took a TCA for an FGID. Of the 98 patients, 77 patients (78.6%) responded to the treatment for an average of 10.73 (range 1-45) months. CONCLUSIONS: TCAs are effective in treating FGIDs in pediatric patients for a long duration.

Benign transient hyperphosphatasemia in infants and children: a prospective cohort.

A total of 20 children with benign transient hyperphosphatasemia were prospectively evaluated with no additional investigations recommended except repeat serologic evaluation in 2-3 months. The average age of our patients was 2.5 years (range: 1 year 2 months-5 years 10 months). The serum levels of alkaline phosphatase averaged 2383 IU/L (range: 1013-5700 IU/L). Levels returned to normal within several months. This condition should be recognized by the clinician in order not to put patients through lengthy, expensive and unnecessary investigations.

Triple sugar screen breath hydrogen test for sugar intolerance in children with functional abdominal symptoms.

BACKGROUND: Sugar intolerance and functional gastrointestinal disorders are both common in school age children. Both may present with similar complaints such as abdominal pain, diarrhea and bloating. Lactose, fructose and sucrose hydrogen breath tests are widely used to detect sugar malabsorption. AIM: To determine the proportion of children with symptoms of functional gastrointestinal disorders (FGID) that have sugar intolerance as determined by using a breath hydrogen test. METHODS: We prospectively enrolled subjects with chronic abdominal pain, bloating and/or chronic diarrhea. All subjects underwent triple sugar screen hydrogen breath test (TSST) using the combined sugar solution. Breath hydrogen concentration ≥ 20 ppm above baseline was interpreted a positive test for sugar malabsorption. RESULTS: A positive hydrogen breath test consistent with sugar malabsorption was found in 5 out of 31 (16%) subjects. Three of these subjects were confirmed to have lactose malabsorption based on small bowel lactase enzyme analysis or subsequent lactose hydrogen breath test. One subject with positive TSST was diagnosed with fructose malabsorption based on dietary history; he improved on a limited fructose diet, and one was diagnosed to have gastric Crohn's disease. CONCLUSION: Approximately one in six children with symptoms of FGID had sugar intolerance as determined by the TSST.

Obesity is related to multiple functional abdominal diseases.

Analysis of the body mass index of pediatric patients with gastrointestinal complaints as a whole and by disease subgroup revealed a greater percentage of obese patients with constipation, gastroesophageal reflux, irritable bowel syndrome, encopresis, and functional abdominal pain compared with local and New Jersey control populations.

Clinical and endoscopic data in juvenile polyposis syndrome in preadolescent children: a multicenter experience from the United States.

OBJECTIVES: Juvenile polyposis syndrome (JPS) is a hereditary syndrome associated with several germline mutations, and carries a significant risk for future cancer development. Clinical data of JPS in children are sparse, and clinical guidelines are mainly derived from the adult population. In the present study, we describe the largest series of children diagnosed with JPS and present clinical, endoscopical, and histologic data. METHODS: A retrospective study of children with JPS was performed. Children were recruited from 3 academic pediatric gastroenterology centers. Clinical presentation, colonoscopic description, and histologic and demographic data were collected at initial presentation and at each future colonoscopy surveillance. RESULTS: Thirty-six children were included in the study with a mean age of 7.35 years and male to female ratio of 1.25:1. The most common clinical presentation was gastrointestinal bleeding (100%). Family history of colon cancer was noted in 28% of children. A total of 366 polyps were removed, of which 90.5% were pedunculated and 9.5% were sessile. Up to 4 colonoscopic, follow-up surveillances were documented: 21 children had 1 surveillance, 10 children had 2 surveillances, 3 children had 3 surveillances, and 1 child had 4 surveillances. Polyps were evenly distributed throughout the colon. Most of the polyps (99.2%) had benign histology (inflammatory changes) and 3 (0.8%) involved focal adenomatous changes. No adenocarcinoma was identified in any of the 366 polyps. CONCLUSIONS: Colonic polyps in JPS are rarely malignant during the pediatric age period. Our data suggest that the recommended colonic surveillance in children should be modified.

Familiarity of pediatricians with different commercially available neonatal and infant formulas.

To assess the familiarity of pediatricians with commercially available formulas and their use for cow's milk protein allergy and colic, a list of formulas was generated by visiting several grocery stores. Pediatricians were ask to indicate their familiarity with these and other "specialized" formulas with regard to protein and carbohydrate sources, energy content, hypoallergenicity, and indication for infant colic. The participants answered an average of 46% of the questions correctly. Respondents were very familiar with 27% of the formulas, and unfamiliar with 35%. The highest score was 70%, and 10% of the responders correctly answered 65% or more of the questions. Fifty-one percent correctly identified the protein source of the formulas; 32% correctly identified the carbohydrate source. The energy content of the formulas was correctly identified by 54%. These data suggest that pediatricians have a poor understanding of the content and appropriate use of neonatal and infant formulas.

Rotavirus causes hepatic transaminase elevation.

Rotavirus is one of the leading causes of acute gastroenteritis among children. While clinical complaints are generally intestinal including vomiting and diarrhea, there is evidence to suggest that disease outside the gastrointestinal tract occurs. This study examines the frequency of hepatic transaminase elevation in children with rotavirus gastroenteritis. Patients identified with rotavirus gastroenteritis by stool antigen testing between November 2005 and March 2006 had available serum analyzed for alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase, total bilirubin, direct bilirubin, and creatinine phoshosphokinase (CPK). Chart review was conducted to identify patients with possible liver injury unrelated to rotavirus. Among the 92 patients identified with rotavirus during the study period, 75 had serum specimens available for testing. Fifteen patients (20%) had elevated ALT and AST, including one patient with an increase in AST, ALT, alkaline phosphatase, and total and direct bilirubin. The mean ALT elevation was 56 IU/L (range, 44 to 114 IU/L), and the mean AST elevation was 80 IU/L (range, 57 to 126 IU/L). Fifty-three patients (71%) had an increase in AST alone, and three patients (4%) had an increase in AST and alkaline phosphatase. The mean AST values in these groups were 61 IU/L (range, 42 to 110 IU/L) and 79 IU/L (range, 59 to 96 IU/L), respectively. In conclusion, rotavirus commonly causes elevation of liver transaminases.

Quantitative ultrasound in the evaluation of bone status in premature and full-term infants.

Metabolic bone disease of prematurity (MBDP) is a common and significant problem that often gives rise to osteopenia, fractures, osteomalacia, and osteoporosis. The purpose of our study is to establish normative data on bone status in premature and full-term infants to help future studies on MBDP. Bone status was prospectively determined as part of a multicenter study among newborns within 96 hours of life. The patients were divided into 2 groups: group 1 included those neonates 25-36 wk gestational age (premature), and group 2 neonates were born at 37-42 wk gestational age (full term). Demographic data were collected. The Omnisense 7000 Bone Sonometer (Sunlight Medical Ltd., Tel-Aviv, Israel) was used to determine the speed of sound (SOS) through the mid tibia, which reflects bone strength. A total of 235 patients were enrolled in this study. Group 1 (i.e., the premature infants) had a statistically lower age-adjusted SOS as compared with group 2 (i.e., the full-term infants) (analysis of variance; p=0.001). There was also a correlation between SOS and birth weight (r=0.3; p<001). This study represents the largest database of normative data for bone status measuring in preterm and term infants.

Inflammatory bowel disease and Streptococcus bovis.

Evidence suggests a trend for a higher fecal carriage rate of Streptococcus bovis in adult patients with inflammatory bowel disease (IBD). This study defines the fecal carriage rate of S. bovis among children with IBD compared to controls. Subjects with IBD were prospectively enrolled from the patient population of a pediatric gastroenterology practice. Stool samples from IBD patients as well as controls were analyzed within 24 hr for the presence of S. bovis. The study enrolled 47 patients with IBD and 34 controls. Among the 47 IBD patients, 3 had a positive stool culture for S. bovis (6%) and 1 had an equivocal result between S. bovis and S. salivarius. Including this equivocal result, 8.5% of IBD patients were S. bovis carriers. Among the 34 controls, 3 (9%) were found to be fecal carriers of S. bovis. Assuming that the equivocal stool was indeed S. bovis, these groups are not statistically different as determined by Fisher's exact test (P=0.6). We conclude that the fecal carriage rate of S. bovis is not increased among pediatric patients with IBD compared with controls.

The development of mucosal immunity.

The development of the intestinal immune system is a complex sequence of events that begins in utero under various genetic influences, but continues after birth, being modified by factors such as bacteria, hormones and feeds. This review discusses what is known about the ontogeny of each aspect of the mucosal immune system so as to provide a better understanding of how aberrations in the system might lead to systemic disease.

Combined endoscopic cautery and clip closure of chronic gastrocutaneous fistulas.

BACKGROUND: Chronic gastrocutaneous fistula with intermittent drainage is a common outcome after removing long-standing gastrostomy tubes. The standard treatment is surgery with laparotomy and excision of the fistula tract. This study describes the results of an endoscopic closure technique by using a combination of electrocautery and metal clips. METHODS: Three patients with gastrocutaneous fistulas (duration 3 months to 3 years) after gastrostomy tube removal were treated endoscopically by electrocautery of the tract and application of metal clips. OBSERVATIONS: Treatment resulted in complete fistula closure in two patients and partial closure in a third patient. CONCLUSIONS: Combined endoscopic therapy with electrocautery and clipping may be an alternative to surgical closure of chronic gastrocutaneous fistulas.

Inaccuracy of stated versus measured parental heights.

Routine measurement of children's height is essential in monitoring for deviations in normal growth velocity. Target adult height of children is estimated by determining an adjusted midparental height. Such determinations are dependent on the accurate acquisition of parental height. Incorrect assessment of parental height will result in inaccurate expectations for the child's height. To observe the difference between stated and measured parental heights within a United States subspecialty setting, prospective acquisition of parental stated and measured heights during the summer months of 2000 and 2001 was examined. Two hundred and thirty-eight parents, 185 mothers and 53 fathers, were measured. The mean values of the stated heights for mothers and fathers were 163.7 cm +/- 6.3 cm and 177.1 cm +/- 8.6 cm, respectively. The corresponding measured heights were 163.0 cm +/- 5.9 cm and 175.2 cm +/- 6.6 cm, respectively. The mean height difference for mothers was 0.69 cm (p<0.001) while the mean height difference for fathers was 1.90 cm (p<0.001). Parents significantly overestimate their height in a clinical setting. Fathers overestimate to a greater degree than mothers. These findings emphasize the need to obtain height measurement of parents along with that of their children in assessing for linear growth delay.