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.

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.

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.

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.

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.

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.

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.

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.

Prevalence of celiac disease in healthy Turkish school children.

OBJECTIVES: Epidemiological studies of celiac disease (CD) in Turkey have been performed only within some regions of the country. The aim of this study was to determine the prevalence of CD in Turkish school children. METHODS: Between 2006 and 2008, serum samples were collected from 20,190 students (age range, 6-17 years) in 139 schools in 62 cities from different regions of Turkey. CD was screened using IgA antitissue transglutaminase (IgA-tTG) and total serum IgA. Subjects with selective IgA deficiency were further tested for IgG-tTG. Serum samples positive for IgA or IgG-tTG were further tested for IgA antiendomysial antibodies (IgA-EMAs) using an indirect immunofluorescence method. Small-intestinal biopsy was offered to all subjects with tTG antibody positivity. RESULTS: Of the 20,190 subjects, 489 were antibody positive (IgA-tTG only in 270, both IgA-tTG and IgA-EMA in 215, and IgG-tTG in 4). Selective IgA deficiency was detected in 108 patients, and 4 of them were positive for IgG-tTG. An intestinal biopsy was conducted in 215 subjects (IgA-tTG positive in 110, IgA-tTG and IgA-EMA positive in 104, and IgG-tTG positive in 1). The biopsy findings of 95 children were consistent with CD. Thus, the estimated biopsy-proven prevalence was 1:212 children. The positive predictive value (PPV) for IgA-tTG plus EMA was 75.9%. PPV was 44.3% when only IgA-tTG was used. CONCLUSIONS: We estimate that the prevalence of CD is at least 0.47% in healthy Turkish school children. Screening for IgA-tTG plus EMA provided better results for diagnosis when compared with testing for IgA-tTG alone.

Gray hair and acrodermatitis enteropathica-like dermatitis: an unexpected presentation of cystic fibrosis.

Presentation of cystic fibrosis (CF) with an acrodermatitis enteropathica-like skin rash, anemia, and hypoproteinemia without pulmonary disease is rarely reported before. We describe an 11-month-old boy with rash and edema as the presenting signs of cystic fibrosis. The interesting additional finding in our patient was the graying hair after 3 months of age. A reversal of the gray hair was observed by pancreatic enzyme replacement therapy. In conclusion, acrodermatitis-like eruption and hypoproteinemia can be a presenting sign of CF. Graying hair has not been noticed so far as a sign of CF in these patients.

Prevalence of celiac disease in Turkish children with autoimmune thyroiditis.

The close association between celiac disease (CD) and autoimmune disorders is well documented in adult and pediatric patients. The aim of this study is to determine the prevalence of CD in Turkish children with autoimmune thyroiditis (AT). Sera from 101 children with AT (11 boys and 90 girls, from 2 to 18 years of age; mean age 12.28 +/- 3.26 years) and 103 healthy children (46 boys and 57 girls, from 3.5 to 17 years of age; mean age 12.18 +/- 3.11 years) were screened for CD using the IgA anti-tissue transglutaminase (IgA anti-tTG) antibody and total serum IgA. Small intestinal biopsy was offered to all antibody-positive patients. IgA anti-tTG was positive in eight children (7.9%) with AT. None of the serum samples of healthy children were positive for IgA anti-tTG antibody. Selective IgA deficiency was not detected in patients or controls. Intestinal biopsy was accepted by seven patients. In five patients (4.9%), subtotal villous atrophy was found. These findings indicate that the prevalence of CD is higher in Turkish children with AT than in healthy controls. Routine screening for CD should be performed in children with AT.

Tricho-hepato-enteric syndrome presenting with mild colitis.

INTRODUCTION: A four and half-year-old girl was admitted to our clinic with the complaints of diarrhea since birth and failure to thrive. DISCUSSION: The characteristic findings in physical examination were facial dysmorphism, hepatomegaly, and wooly hair. Trichorrhexis nodosa was established in microscopic hair examination. Colonoscopy and histopathologic examination of colonic mucosa revealed mild colitis. In the light of previously published cases, this patient was accepted as a mild variant of syndromic (phenotypic) diarrhea or tricho-hepato-enteric syndrome. We conclude that a mild phenotypic variant of this disease exists that may present with colitis.

Granulomatous hepatitis, perihepatic lymphadenopathies, and autoantibody positivity: an unusual association in a child with hepatitis C.

A 10-year-old boy with hepatitis C had granulomatous hepatitis (GH) at initial liver biopsy. He also had enlarged perihepatic lymph nodes and smooth muscle antibody (SMA) positivity. GH is a rare finding in hepatitis C virus (HCV) infection. Our patient is special since GH secondary to HCV infection was associated with both autoantibodies and multiple intraabdominal lymphadenopathies. After interferon (IFN) and ribavirin therapy, HCV RNA became negative, along with the resolution of hepatic granulomas (HG), lymphadenopathies, and SMA positivity. Although early virologic response was not achieved under IFN treatment, the therapy period was extended, contrary to routine practice, and resulted in a delayed response. We conclude that the usage of IFN for longer periods in GH-associated HCV infection might be promising.

Analbuminemia Zonguldak: case report and mutational analysis.

OBJECTIVES: To document a new case of the rare disease analbuminemia and to study the molecular defect responsible for the trait. DESIGN AND METHODS: Single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and DNA sequencing of the 14 exons and their flanking intron regions, as well as of the 5' and 3' UTR, of the albumin gene were conducted on DNA extracted from peripheral blood samples. RESULTS: DNA sequence analysis showed that the proband was homozygous, and his parents were both heterozygous, for a previously unreported 5180 T-->A transversion. This silent mutation creates at position 5180-81 a new AG dinucleotide, the invariant sequence encountered in all eukaryotic intron acceptor splice sites. This aberrant splice site near the 3'end of exon 5 might alter the normal splicing mechanism. No other mutation was found in the examined regions of the gene. CONCLUSIONS: Our results define a new molecular defect in the albumin gene.

Acute pancreatitis: a rare presenting feature of Henoch Schonlein purpura.

Pancreatitis is a rare manifestation of Henoch Schonlein purpura (HSP). Herein we report a 3-year-old girl presented with acute pancreatitis that developed characteristic rash for HSP at the fifth day of clinical onset. Abdominal pain which is the most frequent sign of gastrointestinal involvement can be also explained by acute pancreatitis. Although clinical features of pancreatitis may be encountered after the onset of the typical rash, pancreatitis can also occur as a presenting feature. This rare presentation of HSP is discussed to emphasise the clinical features, presentation and outcome of pancreatic involvement.

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.