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Background: previous studies demonstrated critical deficits in diagnosis and management of childhood food allergy (FA), and recent developments in FA research support adopting a proactive approach in FA management. Our objective was to describe FA knowledge and management patterns of pediatricians. Method: we applied a 24-item survey to 170 general pediatricians, pediatric allergists and pediatric gastroenterologists practicing in Turkey. Results: some IgE-mediated symptoms of FA such as cough, urticaria, wheezing and anaphylaxis were falsely recognized as symptoms of non-IgE-mediated FA by 30%, 29%, 25% and 19% of the participants, respectively. By contrast, 50% of the participants falsely recognized bloody stool, a finding of IgE-mediated FA. Most frequently and least frequently used diagnostic tools were specific IgE (30.5%) and oral food challenge test (1.7%), respectively. Maternal diet restrictions and infant diet restrictions were advised by 82% and 82%, respectively. Percentages of physicians eliminating only 1 food were 21%, 19%; 2 foods were 15%, 11%; 3 foods were 7%, 8%; 4-5 foods were 8%, 11%; 5 to 10 foods were 21%, 26%; and >10 foods were 28%, 25% from the maternal and infant diet, respectively. Cow's milk, cheese, butter, yoghurt, baked milk products and hen's egg were the most commonly restricted items. Conclusion: overall, FA knowledge of pediatricians was fair. Pediatricians utilize an overly restrictive approach when advising diet eliminations in FA. Recent developments favor a more proactive approach to induce immune tolerance and need to be encouraged in pediatric clinical practice. Future educational efforts should focus on emphasizing the deleterious effects of injudicious and extensive eliminations., NA

It is well-known that in children with type 1 diabetes (T1D), the frequency of Celiac disease (CD) is increased due to mechanisms which are not fully elucidated but include autoimmune injury as well as shared genetic predisposition. Although histopathologic examination is the gold standard for diagnosis, avoiding unnecessary endoscopy is crucial. Therefore, for both clinicians and patients’ families, the diagnosis of CD remains challenging. In light of this, a joint working group, the Type 1 Diabetes and Celiac Disease Joint Working Group, was convened, with the aim of reporting institutional data and reviewing current international guidelines, in order to provide a framework for clinicians. Several controversial issues were discussed: For CD screening in children with T1D, regardless of age, it is recommended to measure tissue transglutaminase-immunoglobulin A (tTG-IgA) and/or endomysial-IgA antibody due to their high sensitivity and specificity. However, the decision-making process based on tTG-IgA titer in children with T1D is still debated, since tTG-IgA titers may fluctuate in children with T1D. Moreover, seronegativity may occur spontaneously. The authors’ own data showed that most of the cases who have biopsy-proven CD had tTG-IgA levels 7-10 times above the upper limit. The decision for endoscopy based solely on tTG-IgA levels should be avoided, except in cases where tTG-IgA levels are seven times and above the upper limit. A closer collaboration should be built between divisions of pediatric endocrinology and gastroenterology in terms of screening, diagnosis and follow-up of children with T1D and suspicious CD., NA

BACKGROUND There has been no study evaluating the psychopathology in breastfeeding mothers of infants with food allergy (FA). OBJECTIVE The aim of the study was to investigate the relationship between dietary elimination and maternal psychopathology, specifically anxiety, depression, and mother-to-infant bonding, in breastfeeding mothers of infants with food allergy. METHODS Breastfeeding mothers following an elimination diet due to FA in their children aged 1-to-12 months were compared with the healthy controls. The physician-diagnosed FA group was divided into IgE-, non-IgE-mediated, and infants with some minor symptoms which were not enough to make the diagnosis of FA were classified as Indecisive symptoms for FA group. Mothers completed standardized questionnaires including Symptom Checklist 90R, Beck Depression/Anxiety Inventories (BDI/BAI), Postpartum Bonding Questionnaire (Bonding). RESULTS Of 179 mother and infants, 64 were healthy, 89 were FA, 16 were indecisive symptoms for FA. The mean age of the mothers and infants were 31.1 ± 4.7 years and 6.3 ± 3.6 months, respectively. The physician-diagnosed FA groups had higher scores for anxiety (p = .008), anger (p = .042), depression (p

BACKGROUND We aimed to investigate the relationship between human leukocyte antigens (HLA)-groups and clinical features, and degree of intestinal injury in children with celiac disease (CD). METHODS Study group included 73 (50 females, 68.5%) children with CD. Demographic and clinical features, accompanying autoimmune diseases, family history for CD and degree of damage in small intestinal mucosa (according to Marsh classification) at the time of diagnosis were determined. Twenty-two siblings of celiac patients without CD (15 females, 65.2%) consisted control group 1, and 66 (40 females, 60.6%) people from the normal population consisted control group 2. RESULTS The allele frequencies of HLA B8, B50, C6, C7, DR3, DR7, DQ2, and DR3 homozygosity were higher in the patient group. HLA DQ2 positivity was 89% in the patient group, 73.9 and 45.5% in control groups 1 and 2, respectively (p < 0.0001). HLA A30, C14, DR11, DQ3 frequency were lower in patients compared to both control groups. HLA-DR15 alleles in patient and control group 1 was significantly lower compared to the general population (p < 0.05). Thirty (41.1%) patients had typical, 43 (58.9%) patients had atypical presentation. Thirteen (17.8%) patients had other autoimmune diseases. There was no association between coexisting autoimmune diseases and the HLA antigens. Fifteen patients (20.5%) had a positive family history for CD; patients with HLA A69, B41 and C12 alleles had a higher positive family history (p < 0.05). Intestinal mucosal damage was as follows: 5 patients (6.8%) had Marsh 2, 25 (34.3%) Marsh 3a, 28 (38.4%) Marsh 3b, 15 (20.5%) Marsh 3c. Patients with HLA-DR15 alleles had more frequent Marsh 3a lesions (p < 0.05). CONCLUSIONS B8, B50, C6, C7, DR3, DR7, DR3/DR3, DQ2 alleles were risk factors for CD in the Turkish population. HLA C14, DR11, DR15, and DQ3 alleles were found to have a protective role in the same population.

Background: Abdominal tuberculosis, the sixth commonest extrapulmanory tuberculosis, is easily misdiagnosed due to nonspecific gastrointestinal symptoms. The diagnosis is highly dependent on clinician's suspicion of the disease; therefore to increase awareness we retrospectively reviewed clinical features of eight children in a four year-period. Methods: The medical records of children with abdominal TB were retrospectively reviewed. The diagnosis of abdominal TB was defined as Mycobacterium tuberculosis infection of gastrointestinal tract along with peritoneal or solid organ involvement. Results: There were six girls and two boys with a mean age of 13.6 +/- 2.8 years (range, 7 - 16 years). Abdominal pain and weight loss were common complaints in all patients (100%) at presentation; fever was present in four (50%) patients and abdominal distension in two (25%) patients. Mean duration of symptoms before diagnosis was 2.5 +/- 1 months. Laparotomy performed in six patients, and the peritoneum was the most common infection site (in 5 patients). Chest X-rays of 7 patients indicated lung involvement. The most common abdominal computed tomography and ultrasonography finding was ascites. Bowel wall thickening was recorded in 2 patients and ileal thickening in 1 patient. Inguinal lymphadenopathy and multiple mesenteric lymphadenitis were present as single cases. Conclusions: The abdominal tuberculosis should be suspected in children with ongoing abdominal pain, fever, and abdominal distension, laparoscopy or laparotomy could be useful in the differential diagnosis and utilizing imaging techniques, invasive methods with clinical suspicion may prevent delay of the diagnosis., NA

AIM To evaluate the agreement of multichannel intraluminal impedance-pH monitoring (MII-pHM) and gastroesophageal reflux scintigraphy (GES) for the diagnosis of gastroesophageal reflux disease. METHODS Seventy-five consecutive patients with suspected gastroesophageal reflux disease (GERD) underwent 24-h combined MII-pHM recording and one hour radionuclide scintigraphy during the course of the MII-pHM study. Catheters with 6 impedance channels and 1 pH sensor were placed transnasally. Impedance and pH data analysis were performed automatically and manually. For impedance monitoring, reflux was defined as a retrograde 50% drop in impedance, starting distally and propagating retrogradely to at least the next two more proximal measuring channels. Reflux index (RI, percentage of the entire record that esophageal pH is < 4.0) greater than 4.2% for pHM and number of refluxes more than 50 for 24 h for MII were accepted as positive test results. At scintigraphy, 240 frames of 15 seconds duration were acquired in the supine position. Gastroesophageal reflux was defined as at least one reflux episode in the esophagus. After scintigraphic evaluation, impedance-pH recordings and scintigraphic images were evaluated together and agreement between tests were evaluated with Cohen's kappa. RESULTS Sufficient data was obtained from 60 (80%) patients (34 male, 56.7%) with a mean age of 8.7 +/- 3.7 years (range: 2.5-17.3 years; median: 8.5 years). Chronic cough, nausea, regurgitation and vomiting were the most frequent symptoms. The mean time for recording of MII-pHM was 22.8 +/- 2.4 h (range: 16-30 h; median: 22.7 h). At least one test was positive in 57 (95%) patients. According to diagnostic criteria, GERD was diagnosed in 34 (57.7%), 44 (73.3%), 47 (78.3%) and 51 (85%) patients by means of pHM, MII, GES and MII-pHM, respectively. The observed percentage agreements/kappa values for GES and pHM, GES and MII, GES and MII-pHM, and MII and pHM are 48.3%/-0.118; 61.7%/-0.042; 73.3%/0.116 and 60%/0.147, respectively. There was no or slight agreement between GES and pHM alone, MII alone or MII-pHM. pH monitoring alone missed 17 patients compared to combined MII-pHM. The addition of MII to pH monitoring increased the diagnosis rate by 50%. CONCLUSION No or slight agreement was found among pH monitoring, MII monitoring, MII-pH monitoring and GES for the diagnosis of gastroesophageal reflux disease., Scientific and Technological Research Council of Turkey (TÜBİTAK)

This study was planned to investigate the amount and content of foods consumed by child patients with celiac disease on a long-term gluten-free diet. Children aged 3-18 years who were diagnosed with celiac disease according to ESPGHAN criteria and were compliant to the gluten-free diet for at least one year were included. Age and gender matched healthy children were included as the control group. Food consumption records including the amount and content of the foods consumed for a total of three days were obtained. Once the records had been completed on the food consumption form, quantity analysis was again performed by the same dietician. Energy and other nutritional elements taken in through foodstuffs consumed by the patient and control groups were calculated using the Nutrition Data System for Research Package; these results were shown as mean ± standard deviation (x ±SD) and the values compared. The study consisted of 28 patients with a mean age of 10.3 ± 4.6 and 25 healthy controls with a mean age of 9.5 ± 3.4. Average age at diagnosis in the patient group was 6.7 ± 4.3 and mean duration of gluten-free diet was 4.0 ± 3.3 years. Children with celiac disease on a gluten-free diet had significantly lower daily energy intake levels compared to the healthy controls (p0.05). The proportional fat consumption was significantly higher in the patient group compared to the controls (p0.05). Moreover, proportional carbohydrate and protein, vitamin E and vitamin B1, and microelements such as magnesium, phosphorus and zinc consumptions were significantly lower in celiac group with respect to v-control group. Solely determining compliance to the gluten free diet might be inadequate in the follow-up of children with celiac disease, adequacy of the nutritional content in terms of macro and micronutrients of celiac disease patients is also important.

Background/aims We aimed to determine the causes, demographic findings, clinical status, outcomes, and prognostic risk factors of patients with acute liver failure admitted to Hacettepe University Children's Hospital between October 1987-October 2006. Methods This retrospective case study included 74 patients with acute liver failure according to the Pediatric Acute Liver Failure Study Group definition. Results The etiology of acute liver failure was metabolic in 26 (35.1%) and infectious in 21 (28.4%) patients. Sixteen (21.6%) patients had indeterminate causes. Wilson's disease (16/26 patients, 61.5%) was the most frequent metabolic disease, while hepatitis A (14/21 patients, 66.7%) was the most frequent infectious agent. Neurologic functions were normal in 21 (28.4%) patients. Forty-nine (66.2%) patients died and 24 (32.4%) recovered. Two patients underwent liver transplantation. The mortality rate was 82.9% for patients who were not transplanted but fulfilled King's College Hospital criteria and 45.4% for patients who were not suitable for transplantation. This difference was statistically significant (p=0.001). Total bilirubin >5.35 mg/dl, international normalized ratio (INR) >3.66 and prothrombin time >23.5 seconds were shown to be the risk factors to predict death. Conclusions Metabolic and infectious etiologies were responsible for most of the acute liver failure cases. Clinical encephalopathy may not be present in children.

BACKGROUND/AIMS We aimed to compare the response rates to hepatitis B virus vaccination in the first year of life, using two different immunization protocols, in children with celiac disease. METHODS Study Group 1 included patients with celiac disease who received 10 μg of hepatitis B vaccine intramuscularly at birth (0), 2 and 9-12 months of life. Group 2 included those who received hepatitis B vaccine at 0, 1 and 6 months of life. Healthy children were divided into two control groups according to the above schedules. RESULTS The total study group included 64 patients and 49 healthy controls. Celiac patients were found to have lower response rates with respect to controls (78.1% vs. 95.9%, respectively). The difference in response rates in the two patient groups was not statistically significant. CONCLUSIONS The response rates of celiac patients to the two different hepatitis B vaccination schedules showed no statistically significant difference.

Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) concordance has been investigated in a few studies. We investigated MEFV mutations and prevalence of FMF disease in Turkish children with IBD and their relationship with the disease severity. Sixteen patients with ulcerative colitis (UC), 14 with Crohn’s disease (CD) and three with indeterminate colitis (IC) were enrolled in the study (median age 13 years, range 0.6–16 years, n = 19 boys). Demographic, clinical and laboratory characteristics of the patients were evaluated as well as the parameters of disease severity. All patients were screened for 12 common MEFV mutations. MEFV mutations were detected in 17 of 66 (25.7%) alleles. Seven patients (four patients with CD, two with IC, and one with UC) were also diagnosed as FMF. FMF disease was found in seven of all IBD patients (21.2%) and four of them had CD. M694V was the leading mutation, and as a disease-causing mutation, it was found to be significantly more frequent in CD patients than UC patients (Fisher’s exact test P = 0.03). Demographics, laboratory evaluations, growth parameters, extraintestinal manifestations, and treatment with immunosuppressive agents other than steroids were comparable between the patients with and without FMF in most aspects. Although this is a small cohort, disease-causing MEFV mutations and FMF disease rate were increased among our patients with IBD. The increase was prominent among CD patients, whereas in UC the rate was similar to the Turkish healthy control population.

Despite the clinical importance of osteoporosis in individuals with cirrhosis, little is known about it, especially in children. We evaluated the bone mineral density (BMD) and bone mineral content (BMC) of children with cirrhosis.Forty children with cirrhosis (mean age, 10.4 +/- 3.9 years) were involved. BMD and BMC were measured by dual energy X-ray absorptiometry at lumbar vertebrae 1-4, and the results were compared with those of 62 healthy age- and sex-matched children.The mean lumbar spine BMD of patients with cirrhosis was 0.482 +/- 0.107 g/cm(2) and that of the controls was 0.687 +/- 0.172 g/cm(2) (P0.0001). The mean lumbar spine BMC of patients with cirrhosis was 20.008 +/- 8.409 g and that of controls was 32.859 +/- 14.665 g (P0.0001). After the confounding variables (weight, height, and pubertal stage) were controlled for, the difference in BMD and BMC values between patients with cirrhosis and healthy controls was significant (0.535 +/- 0.061 g/cm(2) vs 0.653 +/- 0.048 g/cm(2), and 24.515 +/- 5.052 g vs 29.952 +/- 3.971 g, respectively).Because of the significant difference in BMD and BMC values between our patients with cirrhosis and healthy controls, patients with cirrhosis should be evaluated for osteopenia.

Background/aims Sequential therapy is one of the recent answers given to the problem of increasing antibiotic resistance and decreasing eradication rates of Helicobacter pylori infection. The aim of this study is to compare the ornidazole-based sequentialtherapy with the standard triple therapy in Helicobacter pylori eradication. Materials and methods Children aged 4-18 years diagnosed with Helicobacter pylori infection based on histology and at least one of 13 C urea breath test and rapid urease test positivity were included in the study. Children were randomized to standard triple therapy with amoxicillin, clarithromycin, and lansoprazole for 14 days and sequential therapy with amoxicillin and lansoprazole for the first 5 days and clarithromycin, ornidazole and lansoprazole for another 5 days in 2:3 randomization. At the end of the treatment, families were contacted by phone, and side effects of and the compliance to the treatment were noted. Patients were requested to do 13 C urea breath test 6-8 weeks after the treatment. Results Sixty-one children were included for the final analysis. Per-protocol eradication rates were 48.6% for sequential therapy group and 54.2% for standard triple therapy group. Intention to treat eradication rates were 40.9% and 46.0%, respectively. There were no differences between eradication rates in the two study groups. Side effect rates were also similar between the two groups. Conclusions Ornidazole-based sequential therapy did not show any superiority compared to the standard triple treatment in children with Helicobacter pylori infection.

Hyperimmunoglobulinemia is documented in patients with Gaucher disease of all ages. We investigated the frequency of hyperimmunoglobulinemia in 12 pediatric patients with type I and III Gaucher disease and the effects of enzyme replacement therapy on these abnormalities. The incidence of hyperimmunoglobulinemia was 77%, 66%, and 60% at the diagnosis, before and after ERT, respectively. Immunoglobulin G abnormalities were the most commonly seen isotype abnormality. After enzyme replacement therapy normalization of IgA and IgM levels were recorded but decline in IgG levels was less likely to occur. This study indicated the higher frequency of hyperimmunoglobulinemia in pediatric Gaucher patients. Pediatr Blood Cancer 2011;56:664–666. © 2010 Wiley-Liss, Inc.

Selenium is an essential trace element for humans. Plasma selenium concentration is decreased in adults with cirrhosis. We aimed to investigate the serum selenium concentration in cirrhotic children.The serum selenium concentration of 38 patients was determined by spectrofluorometric method. The results of the patients were compared with those of 41 age- and gender-matched healthy children. Correlations between the liver function tests, Child classes and serum selenium concentrations in cirrhotic children were also investigated.The mean serum selenium concentration in cirrhotic children was significantly lower than that of controls (42.4 ± 8.2 μg/L vs 64.4 ± 16.9 μg/L, p0.05). There was no significant difference between the serum selenium concentrations of cirrhotic children who were in Child-Pugh class A versus B+C (p0.05). Except for serum aspartate aminotransferase level (Pearson coefficient = -0.34), there was no correlation between serum selenium concentration and liver function tests in cirrhotic children.Serum selenium concentration in cirrhotic children was found to be low; supportive selenium administration may be beneficial in cirrhotic children in appropriate cases.

Hepatitis C virus (HCV) infection is still a common and imporant problem in thalassemic patients.1 There have been important mprovements in the treatment of chronic HCV infection especially n the last decade. Combination of pegylated interferon (peg-IFN) lfa-2 and ribavirin seems to improve the success of treatment esponse and currently is the recommended therapy for adults.2,3 owever, studies about the treatment of adolescents with thaassemia and HCV infection are limited and are concerned with the dverse effects of the treatment.1,4 We herein present two adoescents with -thalassemia major and chronic HCV infection who ere treated with peg-IFN and ribavirin and discuss the safety of he treatment.

We report a 15-year-old boy with Mirizzi syndrome diagnosed by MR cholangiopancreatography (MRCP). Respiratory-triggered 3D MRCP was performed during free breathing. An impacted gallstone was noted in the infundibulum; this was not visible on T2-weighted images, but was hyperintense on T1-weighted gradient-echo images. This case illustrates the utility of 3D MRCP with parallel imaging in paediatric patients and the importance of T1-weighted gradient-echo images for the diagnosis of impacted gallstones.

Alpha-fetoprotein (AFP) is used as a tumor marker for hepatocellular carcinoma, hepatoblastoma and germ cell tumors. It may also be elevated in infants with some hepatobiliary disorders. The mechanism of AFP elevation in neonatal cholestasis is not known. We retrospectively evaluated serum AFP levels in 53 infants with neonatal cholestasis. Thirty patients (56.6%) had elevated AFP, and the ratio of patients with elevated AFP was significantly high in both the metabolic diseases and idiopathic neonatal hepatitis groups (p=0.021). Serum aspartate aminotransferase (AST) levels increased significantly in patients with elevated AFP (p=0.004). Steatosis was the distinctive histopathological finding of the patients with high AFP. The patients with steatosis had significantly higher standard deviation (SD) score of AFP than the patients without steatosis (p=0.001). We have shown AFP elevation in neonatal cholestasis due to metabolic disorders and idiopathic neonatal hepatitis and its association with steatosis and AST elevation.

Amac: Bu cal›flman›n amac› yeni tan› ve diet alt›ndaki colyak hastalar› ile sal›kl› cocuklardaki fekal kalprotektin miktar›n› kar- fl›laflt›rmakt›r. Ayr›ca histopatolojik evre (Marsh evresi) ve notrofilik infiltrasyon derecesi ile de fekal kalprotektin oran› karfl›laflt›- r›ld›. Gerec ve Yontem: Cal›flma, yeni tan›, glutensiz diet alt›ndaki hastalar ve sal›kl› kontrol grubu olmak uzeri 3 grubu icer- mektedir. Ayr›ca cal›flma boyunca glutensiz diet ile serolojisi negatifleflen 9 hastada fekal kalprotektin miktar› tekrar cal›fl›ld›. Bulgular: Fekal kalprotektin oran› yeni tan› colyak hastalar›nda (n=31), diet alt›ndaki hastalara (n=33) ve sal›kl› kontrol gru- buna (n=34) gore yuksek saptand› (s›ras›yla 117,2 μg/g (3.2-306), 3.7 μg/g (0.5-58.2) ve 9.6 μg/g (1-70), p

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.

Celiac disease (CD) usually presents with diarrhea and growth retardation in childhood. Obesity is one of the paradoxical conditions in children with CD. We present two adolescents with CD and obesity. One of these patients was diagnosed as CD with malnutrition. His body weight had returned to normal after a gluten-free diet, and after stopping the diet, he had become obese. The second patient was an obese adolescent presenting with dyspeptic symptoms who was diagnosed as CD. Although rare, pediatricians should remember that obesity might be seen in CD before or after the diagnosis.

Lansoprazole, a cytochrome P450 2C19 (CYP2C19) substrate, has been widely used in children to manage acid-related diseases. CYP2C19 exhibits marked genetic polymorphisms, and distribution of these polymorphisms varies among different ethnic groups. There is limited data regarding the use of probe drugs for determining CYP2C19 activity in children. The aim of this study was to evaluate lansoprazole as an in vivo phenotyping probe for assessing CYP2C19 activity in children. The CYP2C19*2, *3, and *17 variants were determined in 244 children. Three hours after a single oral dose of lansoprazole (n = 94) or omeprazole (n = 19), plasma lansoprazole and 5-hydroxy lansoprazole or omeprazole and 5-hydroxy omeprazole concentrations were analyzed by high-performance liquid chromatography. The CYP2C19*17 was the most frequent variant allele (24.4%). The group of patients with CYP2C19*17*17 genotype had a 70% lower (p

Heterotopic pancreatic tissue consists of normally differentiated pancreatic tissue without a real anatomic and vascular connection to the pancreas, whereas Meckel's diverticulum is one of the most important cause of lower gastrointestinal bleeding in children. Although heterotopic pancreatic tissue is related to various gastrointestinal diseases/malformations in both humans and animals, it is rarely associated with Meckel's diverticulum. Herein, we report a five-year old boy who presented with melena and hematochezia, which were discovered to be the result of Meckel's diverticulum. He also had multiple heterotopic pancreatic tissues in various parts of the gastrointestinal tract. The reason for this association is not known, but might involve some abnormalities of signaling molecules expressed in the development of the gastrointestinal tract and associated organs. In clinical practice, it is important to remember that Meckel's diverticulum and heterotopic pancreatic tissue might occur together or accompany various other gastrointestinal anomalies.

The aim of this study was to investigate the presentation pattern of newly diagnosed celiac disease (CD) in Turkish children in the last eight years. Two hundred twenty patients with newly diagnosed CD were included. The medical records of all the patients between January 2000 and October 2008 were reviewed. The clinical spectrum was divided into three categories according to the main symptoms that led to the diagnosis: gastrointestinal presentation, non-gastrointestinal presentation, and silent cases. The mean age of the patients was 7.2 +/- 4.3 years at diagnosis. According to the presenting signs, the patients were defined as gastrointestinal presentation (129 patients, 58.6%), non-gastrointestinal presentation (76 patients, 34.6%) and silent cases (15 patients, 6.8%). This study showed that the number/percentage of CD cases who presented with non-gastrointestinal symptoms/conditions, so-called "non-gastrointestinal presentation", have been increasing in the last eight years.

Hyperimmunoglobulinemia is documented in patients with Gaucher disease of all ages. We investigated the frequency of hyperimmunoglobulinemia in 12 pediatric patients with type I and III Gaucher disease and the effects of enzyme replacement therapy on these abnormalities. The incidence of hyperimmunoglobulinemia was 77%, 66%, and 60% at the diagnosis, before and after ERT, respectively. Immunoglobulin G abnormalities were the most commonly seen isotype abnormality. After enzyme replacement therapy normalization of IgA and IgM levels were recorded but decline in IgG levels was less likely to occur. This study indicated the higher frequency of hyperimmunoglobulinemia in pediatric Gaucher patients.

Abetalipoproteinemia (ABL) is a rare autosomal disorder characterized by extremely low levels of plasma lipids and apolipoprotein B (apoB) with a variable phenotype. Mutations in the MTP gene encoding the microsomal triglyceride transfer protein (MTP) cause the disease. A five-month-old boy, born from consanguineous parents, with chronic diarrhea and severe malnutrition had extremely low plasma lipids and apoB levels suggesting the diagnosis of ABL. He was not responsive to treatment with low-fat diet and fat-soluble vitamins and died at 13 months of age with severe malnutrition. Analysis of the MTP gene showed that he was homozygous for a two nucleotide deletion in exon 4 (c.398-399delAA) expected to cause a frameshift in the mRNA leading to a premature termination codon. The normolipidemic proband's parents were found to be heterozygous for the mutation. This observation underscores that in some cases, ABL can be extremely severe from early post-natal life and poorly responsive to treatment.

Carpal tunnel syndrome and benign recurrent intrahepatic cholestasis are rare conditions in childhood. Benign intrahepatic cholestasis is characterized by repeated self-limited attacks of cholestasis that can start at any age and last from weeks to months. The patients are asymptomatic between these attacks. We report a 16 year-old male patient with benign recurrent intrahepatic cholestasis who developed carpal tunnel syndrome during a cholestatic attack. He was admitted with complaints of jaundice, pruritus and pain, tingling and muscle weakness in both hands for 15 days. Nerve conduction studies revealed findings compatible with carpal tunnel syndrome. He was started on ursodeoxycholic acid, fat soluble vitamins and cholestyramine and cholestasis regressed after four weeks of therapy. With the improvement of cholestasis, the symptoms of carpal tunnel syndrome also disappeared. In conclusion, benign recurrent intrahepatic cholestasis can be a rare cause of carpal tunnel syndrome in childhood. We also advocate treating the underlying disease as an appropriate conservative treatment before surgery.

Crohn's disease is extremely rare in infancy and can be present in severe forms. Infants with Crohn's disease might require intensive immunosuppressive therapy. Infliximab is a chimeric mouse/human monoclonal IgG1 antibody against tumor necrosis factor-a, and completely neutralizes its biologic activity. Though widely used in the treatment of pediatric Crohn's disease, there are few data regarding its applicability in infancy. We therefore report herein our experiences with infliximab therapy in two infantile patients with Crohn's disease who were resistant to conventional therapies; one patient showed a partial response while there was no response in the second. We were unable to achieve satisfactory results from infliximab therapy. It remains to be determined whether inflammatory bowel disease starting in infancy represents a separate pathogenetic subgroup and whether the inflammatory bowel disease diagnosis should follow the exclusion of an immunodeficiency state. Studies in larger series are needed to further clarify the efficacy, safety and timing of infliximab therapy for infantile Crohn's disease patients. (C) 2009 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved.

Hemophagocytic lymphohistiocytosis (HLH) is a rare, potentially fatal, severe condition of hyperinflammation caused by the uncontrolled proliferation of activated lymphocytes and histiocytes secreting high amounts of inflammatory cytokines. Here we report a fatal hemophagocytic syndrome in a 11-year-old boy with a diagnosis of both Crohn's disease receiving immunosuppressive therapy and familial Mediterrenean fever. It is important to evaluate the patients with inflammatory bowel disease receiving immunosuppressive therapy presenting with unexplained fever, cytopenia, progression of organomegaly and biochemical changes for the investigation of HLH for diagnosis and treatment. (C) 2009 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved.

Bone demineralization is a significant problem in pediatric inflammatory bowel disease. Contributing factors include inadequate nutrition, corticosteroid therapy and decreased physical activity. Although zinc is needed for osteoblastic activity and collagen synthesis, its role in bone development is uncertain. The aim of this study was to investigate the relation between the serum zinc level and bone mineral indexes of 28 children with inflammatory bowel disease.Bone mineral content and bone mineral density at lumbar 1-4 vertebrae were measured by dual energy X-ray absorptiometry in all patients and 56 controls. Serum zinc levels of patients and 31 controls were determined by spectrophotometric method.The mean bone mineral density values of patients and controls were 0.661+/-0.201 g/cm2 and 0.751+/-0.175 g/cm2, the mean bone mineral content values were 33.357+/-17.104 g and 38.968+/-14.663 g, and the mean serum zinc levels were 101.2+/-28.8 microg/dl and 108.9+/-15.9 microg/dl, respectively. All controls had normal serum zinc level; however, 11 (39.3%) patients had low serum zinc level (p=0.000). The ratio of patients with Z-score below the -2SD was higher in patients with low zinc level than in patients with normal zinc level (70% vs. 42.8%).Although insignificant, some of the children with IBD had low levels of serum zinc and these patients had lower Z-scores than the others. Further studies including large numbers of patients may reveal a certain effect of zinc on bone development in patients with inflammatory bowel disease.

The Niemann–Pick disease (NPD) is actually a group of diseases that can be classified into two categories regarding the underlying mechanism; types A and B due to a deficiency in acid sphingomyelinase activity with accumulation of sphingomyelin and type C due to mutations of the NPC-1 gene and associated defective intracellular handling of low-density lipoprotein-derived cholesterol [1]. While foamy histiocyte infiltration in the reticuloendothelial system and visceromegaly can be seen in all types, severe neurological manifestations occur only in types A and C, and not in type B [1,2]. Type A disease is a neurodegenerative disorder that results in early death contrary to type B NPD that demonstrates a prolonged course with survival into adulthood. Type B NPD usually manifests with hepatosplenomegaly, abnormal bleeding, growth retardation and recurrent respiratory infections [2]. Niemann– Pick disease type C is a clinically heterogeneous disease that most frequently begins in childhood with neurological manifestations and hepatosplenomegaly. It may also manifest as an acute form with hydrops, or with neonatal hepatitis, or with a chronic form with progressive neurological deterioration [1]. We present an adolescent patient with NPD who was referred to our hospital with the preliminary diagnoses of tuberculosis and/or chronic liver disease.