Is the Pediatric Eosinophilic Esophagitis Symptom Score v2.0 reliable for telemedicine?

BACKGROUND: Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease. Telemedicine is a healthcare technology used when a patient is separated by distance. The reliability of the Pediatric Eosinophilic Esophagitis Symptom Score, version 2.0 (PEESS v2.0) for telemedicine applications, has not been studied yet. Therefore, we aimed to evaluate the reliability of PEESS v2.0 for telemedicine. METHODS: We sent a telesurvey using questionnaires via electronic telecommunication as the telemedicine method. Children with EoE and their parents were asked to complete PEESS v2.0 with the telesurvey method (unsynchronized with the physician) and attend in-person visits one week apart. Intraclass correlation (ICC), Wilcoxon, and Bland-Altman tests were used as reliability analyses. Reliability was defined as a strong agreement between the measurements in ICC ≥ 0.8 and a p-value of ≤0.05 and no statistically significant difference between the scores of the two methods in the Wilcoxon and Bland-Altman analyses, i.e. a p-value of >0.05. RESULTS: The total scores of children and parents were higher in in-person visits than in the telesurvey (Wilcoxon tests, p ≤ 0.05). Bland- Altman analysis showed that the mean difference in total scores between the two methods was significant for both children and parents (p ≤ 0.05). ICC levels for the children and parent scores for the entire group ranged from 0.595 to 0.763 (moderate agreement). DISCUSSION: Unsynchronized telesurvey use of PEESS v2.0 is unreliable both for children and parents. We suggest testing the reliability of chosen telemedicine methods before using them in clinical and research practice.

Megabulbus in endoscopy; suspect for superior mesenteric artery syndrome in children.

Rarity of Superior Mesenteric Artery Syndrome (SMAS) and necessity of invasive tests to verify the diagnosis leads to patients receiving symptom-oriented drugs for a long period without any definite diagnosis. Diagnostic tests such as barium series, abdominal CT scan, abdominal angiography or magnetic resonance arteriography are used in patients with suspected SMAS. In pediatric patients, a non-invasive SMAS diagnosis may be considered easily with abdominal ultrasound performed by experienced hands. Megabulbus is used as a radiological term; however, reviewing the literature an endoscopic definition for megabulbus was not found. We decided to mention severely dilated pyloric ring and bulb as megabulbus. Megabulbus might be an indicator for SMAS. This is the first case of SMAS in adult and pediatric age groups presenting with megabulbus.

An insight into the relationships between prohepcidin, iron deficiency anemia, and interleukin-6 values in pediatric Helicobacter pylori gastritis.

UNLABELLED: The link between Helicobacter pylori and iron deficiency (ID) or iron deficiency anemia (IDA) has been investigated recently. We suggested that IDA/ID associated with H. pylori infection might be mediated by inflammation-driven hepcidin production. Patients with complaints of recurrent abdominal pain and dyspepsia aged between 7-16 years were included in this study. Patients were divided into two groups according to H. pylori status in upper gastrointestinal endoscopy. Group I who had H. pylori gastritis (n=50) received triple antibiotic therapy. Group II (n=50) who had H. pylori-negative gastritis only received proton pump inhibitor. Thirty healthy children with the similar age and gender were included in the study as a control group. Complete blood count, serum iron levels, iron-binding capacity, ferritin levels, prohepcidin and interleukin-6 (IL-6) values were evaluated in all children at the first visit. Initial tests were repeated after H. pylori eradication. Initial levels of ferritin (p=0.002), prohepcidin (p=0.003), and IL-6 (p=0.004) were found significantly lower in group I compared to group II and the control group. The mean prohepcidin level was lower in the anemic H. pylori-positive group than in non-anemic H. pylori-positive group; however, the difference was not statistically significant. While significant increases in hematocrit and mean corpuscular volume were observed, no significant difference was found in serum ferritin, prohepcidin, or IL-6 level after eradication treatment in H. pylori-positive group. CONCLUSION: H. pylori-induced gastritis appears to cause an increase in prohepcidin levels and a decrease in ferritin levels, supporting our hypothesis; but this relationship has not been proven.

Two cases of esophageal eosinophilia: eosinophilic esophagitis or gastro-esophageal reflux disease?

Eosinophilic esophagitis (EoE) and gastroesophageal reflux disease are among the major causes of isolated esophageal eosinophilia. Isolated esophageal eosinophilia meeting criteria for EoE may respond to proton pump inhibitor (PPI) treatment. This entity is termed proton pumps inhibitor responsive esophageal eosinophilia (PPI-REE). Gastro-esophageal reflux is thought to comprise a subgroup of patients with PPI-REE. According to the latest guidelines, PPI responsiveness distinguishes people with PPI-REE from patients having EoE (non-responders). In this report, two unusual cases with findings belonging to both EoE and PPI-REE are discussed with known and unknown facts.

Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency.

Glucose 6 phosphatase catalytic subunit-3 (G6PC3) deficiency is a heterogenous disorder characterized by severe congenital neutropenia and a variety of extrahematopoietic manifestations. Inflammatory bowel disease like colitis is an uncommon complication of G6PC3 deficiency, described only in adolescent and adults. Herein, we describe inflammatory colitis in a 10-year-old girl with severe congenital neutropenia due to G6PC3 deficiency while she was on a high-dose filgrastim. Switching from filgrastim to (pegylated filgrastim) Pegfilgrastim led to rapid resolution of colitis, weight gain, and decreased infections. Pegfilgrastim seems to be a better remedy for treatment of G6PC3 deficiency complicated with inflammatory bowel disease.

Eosinophilic esophagitis and anaphylaxis due to cow's milk in an infant.

Food allergies are often seen in infancy and usually show the clinical signs in the form of type I hypersensitivity reaction. However, a combination of food allergies can sometimes be found in the same patient. In this report, we present an 11-month-old infant who had a combination of anaphylaxis and eosinophilic esophagitis induced by cow's milk. Diagnosis of eosinophilic esophagitis is done by examination of esophageal biopsy material histologically. This is a very rare combination of food allergy. Improvement in clinical and histological findings of eosinophilic esophagitis was achieved by removal of cow's milk and dairy products from the infant's diet.

Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.

BACKGROUND & AIMS: Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with obesity, severe malabsorptive diarrhea, and certain endocrine abnormalities. Common variants in PCSK1 also have been associated with obesity in heterozygotes in several population-based studies. PC1/3 is an endoprotease that processes many prohormones expressed in endocrine and neuronal cells. We investigated clinical and molecular features of PC1/3 deficiency. METHODS: We studied the clinical features of 13 children with PC1/3 deficiency and performed sequence analysis of PCSK1. We measured enzymatic activity of recombinant PC1/3 proteins. RESULTS: We identified a pattern of endocrinopathies that develop in an age-dependent manner. Eight of the mutations had severe biochemical consequences in vitro. Neonates had severe malabsorptive diarrhea and failure to thrive, required prolonged parenteral nutrition support, and had high mortality. Additional endocrine abnormalities developed as the disease progressed, including diabetes insipidus, growth hormone deficiency, primary hypogonadism, adrenal insufficiency, and hypothyroidism. We identified growth hormone deficiency, central diabetes insipidus, and male hypogonadism as new features of PCSK1 insufficiency. Interestingly, despite early growth abnormalities, moderate obesity, associated with severe polyphagia, generally appears. CONCLUSIONS: In a study of 13 children with PC1/3 deficiency caused by disruption of PCSK1, failure of enteroendocrine cells to produce functional hormones resulted in generalized malabsorption. These findings indicate that PC1/3 is involved in the processing of one or more enteric hormones that are required for nutrient absorption.

A Case of Food Protein-Induced Enterocolitis Triggered by Wheat.

Food protein-induced enterocolitis syndrome (FPIES) is an under-recognized and frequently misdiagnosed non-IgE-mediated gastrointestinal food hypersensitivity disorder. We describe the first case of FPIES only to wheat confirmed by an oral food challenge (OFC). The male patient, who was breast fed for the first 2 months, and then was feeding with cow's milk-based formula until he became 4.5 months old, was given a tarhana soup (wheat and yoghurt) for the initial food trial. Two hours later, he started retching and vomited consecutively, suffering from watery diarrhea. He was taken to a medical center, where he was diagnosed acute gastroenteritis. He suffered from three more episodes after feeding wheat-containing foods. When the patient was 12 months old, an OFC with wheat was performed. Two hours after he had been challenged, he vomited repetitively, became lethargic, his systolic blood pressure dropped from 95 to 80 mm Hg and stool examination revealed eosinophils and leukocytes, which were negative before the challenge. The serum eosinophil count decreased from 460 to 270 µL and the neutrophil count increased from 2,200 to 10,500 µL at 6 h. The skin prick test with wheat extract, prick to prick test with whole wheat and serum-specific Ig E for wheat were negative. We conclude that FPIES can emerge with food in connection with eating habits or culture. In view of its potentially serious clinical course, it is critical to consider this diagnosis in young children presenting with acute onset of gastrointestinal symptoms or shock.

Platelet usage trends in a tertiary care hospital - Could it be less and less expensive?

Major bleeding is a life threatening complication of severe thrombocytopenia. The aim of this study was to find out the indications and the threshold for platelet transfusions in the pediatric patients of our hospital throughout 1 year. Records of the hospital's blood bank and the files of the patients were retrospectively reviewed. One hundred and four patients, between ages 0-18 years received 378 platelet units. Pretransfusion platelet counts were found to be significantly lower in hematology-oncology groups compared to other clinics (p<0.05). Single donor apheresis was found to be the major source of platelets in hematology (80.8%, n=147) and oncology (86.5%, n=45) clinics. There is a tendency for using apheresis products without proven superiority compared to platelet concentrates in terms of efficacy. This practice can be abandoned by continuous education.

Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.

BACKGROUND & AIMS: Homozygous loss of function mutations in interleukin-10 (IL10) and interleukin-10 receptors (IL10R) cause severe infantile (very early onset) inflammatory bowel disease (IBD). Allogeneic hematopoietic stem cell transplantation (HSCT) was reported to induce sustained remission in 1 patient with IL-10R deficiency. We investigated heterogeneity among patients with very early onset IBD, its mechanisms, and the use of allogeneic HSCT to treat this disorder. METHODS: We analyzed 66 patients with early onset IBD (younger than 5 years of age) for mutations in the genes encoding IL-10, IL-10R1, and IL-10R2. IL-10R deficiency was confirmed by functional assays on patients' peripheral blood mononuclear cells (immunoblot and enzyme-linked immunosorbent assay analyses). We assessed the therapeutic effects of standardized allogeneic HSCT. RESULTS: Using a candidate gene sequencing approach, we identified 16 patients with IL-10 or IL-10R deficiency: 3 patients had mutations in IL-10, 5 had mutations in IL-10R1, and 8 had mutations in IL-10R2. Refractory colitis became manifest in all patients within the first 3 months of life and was associated with perianal disease (16 of 16 patients). Extraintestinal symptoms included folliculitis (11 of 16) and arthritis (4 of 16). Allogeneic HSCT was performed in 5 patients and induced sustained clinical remission with a median follow-up time of 2 years. In vitro experiments confirmed reconstitution of IL-10R-mediated signaling in all patients who received the transplant. CONCLUSIONS: We identified loss of function mutations in IL-10 and IL-10R in patients with very early onset IBD. These findings indicate that infantile IBD patients with perianal disease should be screened for IL-10 and IL-10R deficiency and that allogeneic HSCT can induce remission in those with IL-10R deficiency.

The first experience of eosinophilic esophagitis in Turkish children.

BACKGROUND/AIMS: Eosinophilic esophagitis is a rare allergic disease of the esophagus with no published data in Turkish children. METHODS: This is an observational study of children diagnosed as eosinophilic esophagitis in our hospital between February 2009 and January 2011. We retrospectively analyzed the clinical features, allergic work-up, endoscopic and histological findings, and response to treatment. RESULTS: We followed seven patients in this period with a histopathologic diagnosis of eosinophilic esophagitis. The mean age at diagnosis was 5.05±2.97 years (range: 1-9 years), and four of them were male. The most frequent symptom was gastroesophageal reflux disease-like symptoms (vomiting, regurgitation, and heartburn) (42.9%). Peripheral eosinophilia and high serum total IgE levels were found in four patients (57.2%). Sensitization to food (71.4%) was more frequent than that of aeroallergens (28.6%). Endoscopic findings suggestive of eosinophilic esophagitis were present in four patients (57.2%). Comorbid allergic disease was present in five patients (71.4%). All patients were treated by elimination diet (85.7%) and/or inhaled corticosteroid treatment (71.4%). The mean follow-up period was 12.4±6.1 months (range: 6-24 months). All but one patient showed complete clinical response to their treatment. No significant side effect was observed during the follow-up period. CONCLUSIONS: Eosinophilic esophagitis is a rare gastrointestinal allergic disorder frequently comorbid with other allergic diseases and with different manifestations and response profiles to treatment modalities.

Hepatoportal sclerosis in childhood: some presenting with cholestatic features (a re-evaluation of 12 children).

Hepatoportal sclerosis (HPS) is a syndrome of obscure etiology, and is one of the causes of noncirrhotic portal hypertension (PH). We aimed to investigate this heterogeneous group of patients whose presentation showed cholestatic features, histopathologically. Between 1999 and 2009, 12 children diagnosed with HPS were retrospectively evaluated. HPS was diagnosed with evidence of PH, noncirrhotic liver biopsy with typical histopathologic findings, and exclusion of other possible causes of PH. The data was obtained from pathology reports and microscopic slides. In histopathological re-evaluation fibrosis state, aberrant portal vessels, portal tract dilation and inflammation, ductular reaction, regenerative nodular hyperplasia, acinar transformation, presence of bile pigment, and cholangitis were noted. Serum alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl, alkaline phosphatase, bilirubin, and albumin levels, presentation patterns, and radiologic findings were assessed. Familial relationship degrees were also investigated. Twelve patients (9 boys, 3 girls; 3-180 months) were re-evaluated. Two pairs of the patients were siblings. Parents of 7 patients were consanguine. The most common presenting symptom was abdominal distension. Histopathologically, all patients had hepatoportal sclerosis/intimal fibrous thickening of portal vein and periportal fibrosis, acinar transformation, and regenerative nodules not surrounded by fibrous septae. Eight patients had vascular aberrations, 7 had ductular reaction, 1 showed mild cholangitis, and 1 had canalicular bile pigment. We conclude that genetic predisposition might be a possible factor for HPS development in Turkish patients and it should be kept in mind that cholestatic features noticed in histopathological evaluation may represent a variant group in the spectrum of HPS.

A comparison of fentanyl with tramadol during propofol-based deep sedation for pediatric upper endoscopy.

AIM: This study was conducted to compare the efficacy and safety of tramadol with those of fentanyl and to evaluate the impact of age in pediatric patients undergoing upper gastrointestinal endoscopy (UGIE). METHODS: Eighty patients with ASA I-II, aged 1-16 years, undergoing UGIE were included in this study. Baseline anesthesia was maintained with 1 mg·kg(-1) propofol, and then, the patients were randomly assigned to receive 2 µg·kg(-1) fentanyl (group F, n = 40) or 2 mg·kg(-1) tramadol (group T, n = 40). Additional propofol, 0.5-1 mg·kg(-1), was administered when needed. Heart rate, mean arterial pressure, oxygen saturation (SpO(2)), and sedation scores were recorded at baseline, induction, and every 5 min. Endoscopy duration, recovery time, and adverse effects were recorded. The data were separated for subgroup analyses based on the age of 0-2, 2-12, and over 12 years. RESULTS: Fentanyl significantly decreased the saturation at induction, 5th min and 10th min in patients of 0-2 years; at 5th and 10th min in 2-12 years; and at 5th min in >12 years. In all age subgroups, sedation scores at 10th, 15th, and 20th min, the overall frequency of adverse effects, and the recovery time were significantly lower in group T compared with group F. CONCLUSION: Tramadol in pediatric patients undergoing UGIE provided sedation as efficient as fentanyl with a better hemodynamic and respiratory stability and provided a superior safety and tolerance in younger children.

Normal defecation pattern, frequency of constipation and factors related to constipation in Turkish children 0-6 years old.

BACKGROUND/AIMS: The aim of this study is to figure out defecation features, constipation frequency, reasons and factors effecting on functional constipation in 0-6 years old children. MATERIAL AND METHODS: This descriptive study had been carried out in Gazi University School of Medicine Pediatric polyclinics between February-June 2007 and 1018 children aged 0-6 years were included. The study comprises data about defecation pattern and prevalence of constipation. Children were divided into five groups according to the age. Their parents were asked to complete a structured questionnaire. Physical examinations, stool frequency according to the age, feeding patterns, age and gender distributions, major complaints and associated factors were all investigated. RESULTS: Among 1018 children there were 526 (51.7%) boys and 492 (48.3%) girls. One hundred ninety five (88.2%) infants were exclusively breastfed, 42 children (17.8%) were getting additional feeding in 0-6 months age group. Forty-eight of 1018 children (4.7%) were diagnosed as constipated. Twenty-eight (58.3%) were male and 20 (41.7%) were female. Parents of the constipated children defined the major complaints with defecation as discomfort (33%), pain (25%), seldom defecation (21%), hard stools (17%) and rectal bleeding (4%). Eighteen parents (37.5%) thought that constipation is related to dietary type. Refraining from school toilet was defined by seven parents (14.6%). CONCLUSION: Constipation may predict serious organic problems in newborns; however organic problems are not encountered in 95% of bigger children. These cases are described as functional constipation. Dietary factors and refraining from school toilets have to be considered during treatment.

The diagnosis and outcomes of persistent diarrhea in infants aged 0-24 months--a Turkish cohort study.

BACKGROUND/AIMS: Infantile persistent diarrhea series are not well documented in the literature. Evaluating the literature, the aim of this study was to document persistent diarrhea cases followed in our center and to constitute a practical diagnostic algorithm for the pediatrician by means of surveying methods. METHODS: Diarrheas lasting more than 14 days were accepted as persistent diarrhea. Forty-one persistent diarrhea cases aged 0-24 months were investigated in this study. The cases were evaluated for the presence of mucus and/or leukocytes in stool and were thus divided into two major groups as colitis or enteropathies. For the differential diagnosis of the persistent colitis group, stool cultures, dietary restrictions, complete blood count, acute phase reactants, pathergy test, gene analysis for familial Mediterranean fever and Behçet's disease, colonoscopy, and biopsies were performed. In the persistent enteropathy group, differential diagnosis was made with the following tests: serum and stool electrolytes, arterial blood gases, serum albumin, total protein, lipid profile, stool alpha-1 antitrypsin level, stool pH, presence of stool fat and reducing substance, endoscopy, and biopsies. RESULTS: The 27 persistent enteropathy cases included 7 celiac disease, 5 intestinal lymphangiectasia, 2 microvillus inclusion disease, 2 abetalipoproteinemia, and 11 cow's milk allergy. The 13 cases of the infantile colitis group included 1 Behçet's disease, 1 colitis ulcerosa and 11 cow's milk allergy. Two cases presenting as pancreatic insufficiency were diagnosed as cystic fibrosis. One case was diagnosed as cystic fibrosis plus cow's milk allergy. CONCLUSIONS: Reviewing the literature, these cases represent the largest non-infectious infantile group of persistent diarrheas. A practical diagnostic algorithm for persistent diarrheas has been constituted.

Congenital chloride diarrhea misdiagnosed as Bartter syndrome.

Congenital chloride diarrhea is the most frequent secretory-type diarrhea during the infantile period in the presence of normal intestinal mucosa. The disease has an autosomal recessive inheritance. Although approximately half of the reported cases to date are from Finland, a much higher incidence has been reported among Arabic people. The defective gene is SLC26A3, which encodes a Na-independent CL/HCO3 exchanger that is expressed primarily in the apical brush border membrane of ileal enterocytes and colonic epithelium. The disease is characterized by dehydration and hypochloremic metabolic alkalosis. Bartter syndrome, cystic fibrosis and pyloric stenosis also lead to similar electrolyte disturbances in the early neonatal period. The diagnosis of congenital chloride diarrhea can be confirmed by measuring the fecal concentration of Cl, which always exceeds 90 mmol/L in patients with normal water and electrolyte balance. Here, we report a patient with congenital chloride diarrhea misdiagnosed as Bartter syndrome until 20 months of age.