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There is some evidence for the role of vitamin D deficiency in the pathogenesis of inflammatory bowel disease (IBD) in the pediatric population. However, the results are contradictory. Therefore, we have conducted a systematic review and meta-analysis to evaluated the effect of vitamin D on pediatric patients with IBD.We carried out a systematic search in databases from inception until 20 January 2022. We included all relevant articles that evaluate the efficacy and safety of vitamin D on disease activity, inflammatory factors, and vitamin D and calcium levels in pediatric patients with IBD. Random effects models were used to combine the data. The main outcomes were then analyzed using weight mean difference (WMD) and respective 95% confidence interval (CI).Fifteen treatment arms met the eligibility criteria and were included. Pooled estimates indicated that intervention with vitamin D has a significantly beneficial effect on 25-hydroxyvitamin D3 [25(OH) D3] (pooled WMD of 17.662 ng/mL; CI 9.77-25.46; P 0.001), calcium (pooled WMD of 0.17 mg/dL; CI 0.04-0.30; P = 0.009), and inflammatory factors including C-reactive protein (CRP) (pooled WMD of -6.57 mg/L; CI -11.47 to -1.67; P = 0.009) and erythrocyte sedimentation rate (ESR) (pooled WMD of -7.94 mm/h; CI -12.65 to -3.22; P = 0.001) levels. In addition, this effect was greater for vitamin D levels at doses greater than 2000 IU, and when follow-up duration was more than 12 weeks.This study showed that vitamin D therapy can have a significant and beneficial effect on 25(OH) D3, calcium, and inflammatory factors in children and adolescents with IBD.

For diagnosis of CMV infection in colon biopsies, immunohistochemistry (IHC) and polymerase chain reaction (PCR) can be helpful besides pathologic examination. We performed CMV IHC and PCR on formalin–fixed paraffin-embedded (FFPE) and fresh tissue (FT) in clinically suspicious children for colitis and compared the results with the patients’ clinical course. In a prospective cohort study, among 153 candidate children for the colonoscopy due to colitis, 50 showed positive CMV PCR on FT. PCR on FFPE tissue was positive in 17/40 (42.5 %) cases, of which 2/40 (5%) had positive IHC. Low titer plasma CMV DNA level was seen in 7/17 FFPE-PCR positive cases. Two patients had a high plasma CMV DNA level, who were the two IHC-positive cases. Fecal calprotectin level showed an association with disease histologic activity, but not with CMV positivity on either of the methods of detection. IHC positivity was more likely to be associated with a high plasma CMV DNA level. There was a high rate of false positivity by CMV PCR test on fresh tissue that was neither associated with histopathology nor with the CMV DNA plasma level. Antiviral treatment was correlated with a poorer outcome in patients with inflammatory bowel disease (P=0.035). Conclusion: The PCR result of FT is correlated neither to histology nor to the serum CMV-DNA level. High fecal calprotectin level is associated with active lesions in histopathology. Large randomized clinical trials are recommended to assess the efficacy of antiviral treatment in acute colitis cases that have a high copy number of CMV in the blood or positive results on IHC.

We compared the effects of transcutaneous functional electrical stimulation (TFES) and biofeedback therapy with TFES alone in a cohort of children with functional non-retentive fecal incontinence (FNRFI). This prospective, single-center randomized clinical trial was performed on 40 children with FNRFI. Patients were randomly allocated into two equal treatment groups. Group A (n = 20) underwent TFES + biofeedback therapy, and group B (n = 20) received TFES alone. All patients were assessed with a pediatric fecal incontinence (FI) score questionnaire, a visual pain score, and a bowel habit diary both before and at the end of treatment sessions and also at 6 months of follow-up. In addition, a FI quality-of-life (QoL) questionnaire was recorded for all patients before and 6 months after the treatment. FI significantly improved in 13/20 (65%) patients in group A and 11/20 (55%) patients in group B (P

Liver biopsy is the gold standard for the diagnosis and management of various liver diseases; however, noninvasive diagnostic modalities may help prevent adverse effects of anesthesia, prolonged hospitalization, sampling error, and other serious complications, particularly in pediatric patients. The aim of this study is to compare the results of liver biopsy and fibroscan in children with chronic liver diseases. All patients presenting chronic liver disease admitted in the ward or clinic of Tehran's Children Medical Center were enrolled in the study. Required laboratory tests were performed to diagnose the disease, followed by elastography using fibroscan 402 (M-probe) Echosens machine and liver biopsy using Menghini technique. Samples were scored by using METAVIR scoring system. Thirty-two patients were reported (68.8%, female) with autoimmune hepatitis (18.8%), Wilson disease (12.5%), and glycogen storage disease (12.5%). The most common pathologic stage and fibroscan result was stage III and F0 (46.9%), respectively. Association between pathology and fibroscan results was not significant. Nonetheless, age and diagnosis, age and Fibroscan score, and pathology and liver function test were significantly associated with each other. Fibroscan cannot be used as an alternative to liver biopsy; however, it can be a useful accessory tool.

INTRODUCTION Children with refractory constipation might not respond to conventional medical treatments. In this study, we assessed the effectiveness of intrarectal botulinum toxin type A/electromotive drug administration (BoNTA/EMDA) on constipation in these children and compared its efficacy with routine intrasphincteric BoNTA injection. METHODS From 2017 to 2019, 60 children aged 5-13 years who fulfilled Rome III criteria for intractable constipation were enrolled and randomly assigned into 2 treatment groups. EMDA group (n = 30) underwent BoNTA/EMDA, whereas the control group (n = 30) received injection of BoNTA into the internal anal sphincter. A complete bowel habit diary (with data on the frequency of defecation per week, stool form, and the number of fecal soiling episodes), a constipation score questionnaire, and a visual pain score were recorded before treatment and at 1 month and 6 months after treatment. In addition, children in both groups were assessed with a constipation-related quality of life questionnaire. RESULTS After 1-month follow-up, treatment reduced the number of patients fulfilling the diagnostic criteria in both EMDA (24/30, 80%) and injection (25/30, 83.3%) groups (P < 0.001). The stool form was normalized in 73.3% (22/30) in EMDA group and 80% (24/30) in injection group after treatment. The median of constipation score and pain score decreased significantly in both groups after treatment (P < 0.001 and P < 0.001, respectively). DISCUSSION BoNTA/EMDA seems to be as effective as intrasphincteric BoNTA injection for treatment of intractable constipation. In addition, this technique is associated with less comorbidity, is less costly, and can be performed in an office-based setting without general anesthesia.

We describe a cohort of 25 Iranian patients with infantile inflammatory bowel disease (IBD), 14 (56%) of whom had monogenic defects. After proper screening, patients were referred for whole exome sequencing (WES). Four patients had missense mutations in the

Extraintestinal manifestations in irritable bowel disease (IBD), Crohn's disease and ulcerative colitis are reported in different system of the body. We aimed to investigate the factors determining disease severity and evaluate extraintestinal manifestations in patients with irritable bowel disease based on disease activity scoring system.This cross-sectional study was conducted on all patients with irritable bowel disease referred to clinic and gastroenterology ward of (XXX). Medical history, gastrointestinal complications and incidence of extraintestinal manifestations were recorded. Disease severity in ulcerative colitis was rated based on PUCAI (Pediatric Ulcerative Colitis Activity Index) score and in Crohn's disease was calculated based on PCDAI (Pediatric Crohn's Disease Activity Index) score.Of 73 children included in our study, 54.80% were diagnosed with ulcerative colitis and 45.20% were diagnosed with Crohn's disease. The most prevalent symptom was weight loss (81.81%), diarrhea (72.72%) and abdominal pain (69.69%) in Crohn's diseases and bloody diarrhea (80%), abdominal pain (77.5%) and weight loss (57.5%) in ulcerative colitis. The average of PCDAI score was 43.44 and PUCAI score was 35.62. The most prevalent extraintestinal manifestation of the disease was arthritis in 7 Crohn's disease patients (21.21%) and 5 patients (12.5%) with ulcerative colitis, oral plague in 5 patients (15.15%) with Crohn's disease and erythema nodosum in 2 patients (6.06%) with Crohn's disease.The severity of oral plaque was positively associated with the severity of the disease. There was no significant association among other parameters. Scoring systems, to determine the extraintestinal manifestation, should be standardized based on the scoring outcomes.

Jordans’ anomaly is characterized by lipid vacuoles in granulocytes which are observed in neutral lipid storage diseases like Chanarin-Dorfman syndrome. Case report: This six-year-old boy had skin ...

Background: Benign esophageal strictures are not rare. Over the past two decades, endoscopic balloon dilatation (EBD) has been used to treat them. Objectives: The purpose of this study was to identify the most common causes of benign esophageal stricture in children determine the success rate of endoscopic balloon dilatation. Methods: Children younger than 16 years with benign esophageal strictures referred to the endoscopy department during one year (2016 - 2017) were enrolled. After obtaining written consent from parents, endoscopy balloon dilatation was performed with two types of balloon catheters. Response to treatment was evaluated based on clinical symptoms and was classified according to the Vantrappen table score. Results: In this study, thirty-one (31) children participated including 19 (61%) boys and 12 (39%) girls. The mean age was 5.1 ± 3.9 years. The most common causes of esophageal stricture were: achalasia (45%), esophageal atresia (19%), stenosis due to the caustic ingestion (19%), another congenital stenosis (16%). Overall, 27 children (87.1%) had a good response to treatment. In children with stenosis due to caustic ingestion, the inappropriate response was higher than the rest (33%). However, only in 4 (12.9%) patients, balloon dilatation failed. No complications were observed. Conclusions: Achalasia, esophageal atresia, and caustic ingestion are the most common cause of benign esophageal stricture in the children. EBD is an effective and safe treatment in these children, even in cases of previous surgery and recurrence. If this procedure is performed by an expert using appropriate balloon catheters, no complications will be created.

Herein, we present an unusual case of the involvement of pancreas and duodenum in eosinophilic gastroenteritis (EoG), revealed in esophagogastroduodenoscopy (EGD). Owing to patients’ condition and findings from endoscopy, Whipple surgery was performed to remove the part of pancreas and duodenum. Long-term therapeutic efficacy was achieved through this intervention.

We compared the effects of transcutaneous functional electrical stimulation (TFES) and biofeedback therapy with TFES alone in a cohort of children with functional non-retentive fecal incontinence (FNRFI).This prospective, single-center randomized clinical trial was performed on 40 children with FNRFI. Patients were randomly allocated into two equal treatment groups. Group A (n = 20) underwent TFES + biofeedback therapy, and group B (n = 20) received TFES alone. All patients were assessed with a pediatric fecal incontinence (FI) score questionnaire, a visual pain score, and a bowel habit diary both before and at the end of treatment sessions and also at 6 months of follow-up. In addition, a FI quality-of-life (QoL) questionnaire was recorded for all patients before and 6 months after the treatment.FI significantly improved in 13/20 (65%) patients in group A and 11/20 (55%) patients in group B (P 0.05). A significant reduction in FI score was seen in each group at the end of treatment sessions and maintained at 6 months of follow-up (P 0.05). A significant improvement in FI-QoL scores was seen in both groups at 6 months of follow-up in which there was no significant difference in terms of FI-QoL scores improvement between both groups after treatment.The use of electrical stimulation in combination with other treatment methods improves symptoms in patients with FNRFI who are refractory to conventional treatment.

Aim of the study Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease which could be associated with inflammatory bowel disease (IBD), particularly ulcerative colitis (UC). The aim of this study was to compare GGT and IgG4 levels among children with UC with PSC and without PSC. Material and methods In this cross sectional study children with UC with PSC and UC without PSC were included. Serum immunoglobulin G4 (IgG4) and gamma-glutamyl transpeptidase (GGT) levels of the 90 UC patients with and without concomitant PSC were measured. Children with serum IgG4 concentration > 175 mg/dl were considered to have elevated IgG4. Results Elevated serum IgG4 was found in 8 of 30 (26.6%) patients with PSC vs. 3 of 60 (5.0%) patients without PSC. Compared with the group without symptoms of PSC, the group with PSC showed significantly higher levels of aspartate aminotransferases (AST; 22.5 U/l vs. 70.0 U/l, p < 0.001), alkaline phosphatase (ALP; 359.0 U/l vs. 602.0 U/l, p < 0.001), and IgG4 (56.0 vs. 73.0, p = 0.02). The odd ratio of the elevated IgG4 and GGT in predicting PSC was 6.9 (95% CI: 1.6-28.4) and 18 (95% CI: 5.7-55.9), respectively. Conclusions AST, alanine aminotransferase (ALT), GGT, ALP, and serum IgG4 were significantly higher in UC patients with sclerosing cholangitis (SC) compared to UC patients without SC. GGT and IgG-4 measurements are recommended for evaluation of UC.

Introduction and aim. Autoimmune hepatitis (AIH) is an immune-mediated destruction of liver cells, in recognition of interface hepatitis, seropositivity for autoantibodies, and interface hepatitis in histology sections. Hepatocyte destruction in AIH is the direct result of CD4+ T-cell destruction. Yet, Th17 mediated immune attach and a diversity of cytokine networks, including pro-inflammatory cytokines such as Interleukin 1 (IL-1) and Interleukin 6 (IL-6), set the stage for the destructive liver damage. Material and method. Peripheral blood samples from 57 patients, with AIH, recruited from referrals to the main pediatric hospital in Tehran. Single nucleotide polymorphisms for the following cytokines genes, were evaluated through, polymerase chain reaction with sequence-specific primers (PCR-SSP) assay: IL-1a (C/T -889), IL-Ια (C/T -511), IL-1 β (C/T +3962), IL-1 receptor (IL-1R; C/T Pst-I 1970), IL-1RA (C/T Mspa-I 11100), and IL-6 (C/G -174 and A/G nt565). Results. Significant higher frequency of genotype AA was detected in patients in IL-6 at position nt565 (15.8% in AIH patients vs. 2.9% in controls, p = 0.003). The haplotype GA of IL-6 at -174 and nt565, was significantly overrepresented in the AIH group, compared to (20.9% of AIH vs. 1.4% in controls p Conclusion. Results of our study, indicate significant deviation toward high yield IL-6 polymorphisms, in AIH patients. These data could bring new insights in pathophysiology of disease, which could contribute to developing novel treatments for AIH.

Autoimmune hepatitis (AIH) is a chronic inflammation in hepatocellular tissues associated with circulating autoantibodies. Imbalance in T-cells population and dysregulation in several cytokine profiles has been implicated in pathogenesis of AIH. This study was performed to assess potential association of AIH with interleukin-2 (IL-2) and interferon-gamma (IFN-γ) genes single nucleotide polymorphisms (SNPs).Fifty-six patients with AIH and 139 healthy individuals were enrolled in this study. IL-2 and IFN-γ typing was performed, using polymerase chain reaction with sequence-specific primers (PCR-SSP) assay. The frequencies of alleles, genotypes and haplotypes in AIH patients were compared to healthy controls.IL-2 T allele at position +166 (rs2069763) showed significant higher frequency in AIH group (36%), compared to the controls (21%) (OR=2.06; 95% CI, 1.24-3.43, P-value0.01). The frequency of IL-2 TT genotype at +166 position was also associated with AIH (OR=18.68, 95% CI 3.74-126.04, P-value0.01). G/T alleles of IL-2 at -330 (rs2069762) and A/T alleles on UTR +5644 position at IFN-γ and their subsequent haplotypes, did not show significant association with AIH.This study identified IL-2T allele at +166 position and TT genotype as susceptibility gene in AIH which would provide better understandings into the mechanisms of AIH and potential immune modulation therapies.

We present a 13.5 year old boy with chronic intussusception that was misdiagnosed as Crohn disease and received treatment for the wrong diagnosis. Because his condition didn’t improve, more work-ups were performed and the radiologic work-ups revealed the diagnosis of a missed intussusception with fistula.We suggest that prolonged intussusception should be considered in the list of differential diagnosis for the refractory abdominal pain and distention, bloody diarrhea, and radiologist consultancy should be requested, as Crohn disease, infectious gastroenteritis, abdominal malignancies and prolonged intussusception should be carefully investigated and considered in such situations.

Background: Gastroesophageal reflux disease (GERD) is associated with a number of comorbidities in pediatrics. However, its association with attention deficit hyperactivity disorder (ADHD) has not been reported. The aim of the present study was to investigate the prevalence of ADHD in pediatric patients newly diagnosed with GERD. Materials and Methods: Sixty newly-diagnosed treatment naive GERD patients and sixty healthy controls aging between 5 to 12 years referring to the Children and Adolescent’s medical center, Tehran, Iran were recruited in a case-control study during the year 2015. Then patients were evaluated for ADHD by a psychiatrist according to the DSM-IV criteria. The revised Conners' Parent Rating Scale (CPRS-R) was used for assessment of the symptoms of ADHD. To screen for psychiatry disorders other than ADHD, the Kiddie-Sads-Present and Lifetime Version (K-SADS-PL) questionnaire was used. Logistic regression analysis was used for modeling the association between GERD and ADHD in the study sample. Results: The mean age of GERD patients was 5.77±2.27 and for non-GERD controls was 6.03±2.52 (P= 0.543). Thirty-three out of 60 (55%) GERD patients and 37 out of 60(61.66%) non-GERD controls were male (P: 0.579). Prevalence of ADHD was 33.60 (55%) in GERD patients and 10.60 (16.66%) in non-GERD (P

Key Clinical Message Crohn's disease is one of the three subtypes of inflammatory bowel disease, with regional, transmural, and granulomatous inflammation. The present study is a case report on an 11‐year‐old boy who was referred to the hospital due to penis swelling and pain since a year ago, the patient sometimes complained of pain when urinating, he was having a severe painful swelling in the penis shaft; however, his scrotum was completely normal. He was diagnosed with crohn's disease, thus was placed on azathioprine therapy which eradicated his pain after 3 months, and thus, his skin lesion became much smaller. Crohn's disease, especially in children, should be considered in patient with unknown skin complications, and, if clinically suspected, biopsy examination should be performed. The diagnosis of crohn's disease may be delayed in extradigestive cases. This disease occurs when associated with skin manifestations, which is uncommon. We reported a case with penile crohn's disease, of which few cases have been reported in children to date.

Summary Background Allergic colitis (AC) is one of the most common etiologies of rectal bleeding in infants aged one to six months. Aim The aim of this study is to apply step-by-step dietary restrictions in the mother's diet or change of infant formula fed thereby, to evaluate the subsequent clinical response. Methods Sixty healthy infants whose clinical and evaluation results indicated proctocolitis in our outpatient gastroenterology clinic were included in this. They were divided into three groups according to the type of feeding; group 1 were exclusively breast fed, group 2 were exclusively formula fed and group 3 were fed with combination of both. In breast feeding women, discontinuation was allergenic food was studied in four stages; cow-related dairy products, soy, sesame and fast food (stage A), egg (stage B), corn, nuts and fish (stage C) and wheat (stage D). Results Sixty newborns with age at symptom onset 3 days–20 days participated in the study. Up to the time of our initial evaluation, the mean age and weight of infants was 73.34 ± 1.00 day and 3292.71 ± 367.93 g, respectively. There was no significant difference in sex and the type of labor between the groups. Thirty-three infants had a history of eczema and the parents of 47 infants had a history of allergy, with the greatest prevalence in group one. Rectal bleeding in 50% of infants was halted after the elimination of allergenic feed in mother (15 in stage A, 8 in stage B and 7 in stage C). Ten infants needed extensive hydrolyzed formula and 20 needed amino acid-based formulas. Conclusions There is no need for immediate use of amino acid or extensive hydrolyzed formulas in the first stage of blood in stool, perhaps discontinuing allergenic food in mothers could be the primary measure.

Background: Effective and safe procedural sedation is necessary for percutaneous liver biopsy in children. There are a number of different protocols for this purpose. The current study investigated ketamine and DPT cocktail (meperidine (Demerol®) + promethazine (Phenergan®) + chlorpromazine (Thorazine®)). Methods: The current cohort of 80 Iranian children aimed at investigating percutaneous liver biopsy. Each of the 2 study groups (ketamine and DPT) included 40 patients. Both groups were matched by age (number of participants under and above 7 years old). The current study evaluated the efficacy of 2 protocols by CHEOPS (children’s hospital of Eastern Ontario pain scale) and visual analogue scale (VAS) pain scoring system and sedation scoring A,B,C, and D. Results: Ketamine group was sedated and recovered much more rapidly than the DPT receiving patients. Also, they had significantly less pain during the biopsy. The most common side effect of ketamine was vomiting (27%); in the other group, transient hypotension and tachycardia were more common. Conclusions: Ketamine is a safe and effective choice for procedural sedation in percutaneous liver biopsy in children.

Background: Autoimmune hepatitis (AIH) is a chronic long-lasting hepatocellular inflammation associated with circulating auto antibodies. In addition to the genetic component, several cytokines have been implicated to be involved in AIH. This study was performed to investigate potential associations of AIH with IL4 gene variants.Method: The studied alleles and genotypes included: IL4G/T allele polymorphisms at position -1098 and C/T allele polymorphisms at two positions (-33 and -590) on the IL4 gene, in addition to the A/G allele polymorphisms at position +1902 on the IL4RA gene.Result: The IL4 C allele and CC genotype at position -590 and TT genotype at position -33 had a significantly higher frequency in AIH patients.Conclusion: This study identified the IL4 C allele and CC genotype susceptibility gene in AIH, which will provide better insights into the mechanisms of AIH and potential therapeutic interventions.

Proper colon preparation in children has been a challenge for many years. Different regimens have been used for this purpose, but the best regimen is not determined. The aim of this study was to evaluate successful colon preparation before colonoscopy in children who were treated with one- or two-day regimen with polyethylene glycol (PEG) plus bisacodyl and clear liquids.In this randomized clinical trial, 100 children (2-14 years old) who were candidates for colonoscopy were enrolled and divided into two groups. The children in group one were started on 2 g/kg PEG powder (17 g in 240 mL water or another beverage) and 5 mg bisacodyl suppository (BD) the day before colonoscopy, whereas those in the other group were started on 1.5 g/kg PEG with fruit juices for two days and 5 mg bisacodyl suppository (BD) for two days before colonoscopy.Compliance rates, regimens, adverse effects, and complete colonoscopy were not significantly different between the two groups. The Boston score was excellent and good in 70% of group one and 72% of group two children, respectively. Compliance rate, adverse effects, and need for enema were similar in both groups. The rate of compliance and non-requirement of enema were significantly higher in children with satisfactory colon preparation.The one-day PEG plus bisacodyl regimen for bowel preparation is as effective as the two-day regimen in children; furthermore, it is well tolerated and has low adverse effects.

Introduction Chronic diarrhea of infancy is a heterogeneous syndrome that includes several diseases with different etiologies. The aim of this study was investigating chronic diarrhea, its etiologies, clinical features and outcomes in infancy.Materials and Methods Retrospective study investigating infants hospitalized in the gastroenterology department of Tehran tertiary care center.The main demographic data, etiology, characteristics of diarrhea, and outcome were evaluated. Data were analyzed by SPSS software,version 16.Results In this study, 63/9% of cases were female and 36/1% were male. 24 cases (66/7%) had osmotic diarrhea and 11 (30/6%) had secretory diarrhea. In this study there was no significant statistical correlation between type of diarrhea and sex, gestational Age, severity of dehydration, birth weight and nutrition. The majority of patients with osmotic (58/3%) and secretory diarrhea (63/6%), had weight percentile below 3%, which showed a significant statistical difference (p value

Functional constipation is a common condition in children. We assessed the effectiveness of combined interferential (IF) electrical stimulation and pelvic floor muscle (PFM) exercises on functional constipation in children.We conducted a single-center, double-blind randomized clinical trial study during 2014-2017 in Tehran, Iran. Ninety children, aged 5-13 years, who fulfilled Rome III criteria were enrolled and randomly assigned into two treatment groups. Case group (n=45) underwent IF electrical stimulation and PFM exercises, whereas the control group (n=45) received PFM exercises plus sham stimulation. A complete bowel habit diary (with concerning data on the frequency of defecation per week, stool form, and the number of fecal soiling episodes), a constipation score questionnaire, and a visual pain score were recorded before, after the treatment and 6 months later for all participants. In addition, children in both groups were assessed with a constipation-related quality-of-life questionnaire before, after the end of treatment sessions, and 6 months after the treatment.Treatment success was achieved for 88.4% of children in the case group compared with 43.2% of children in the control group after the treatment (P0.003). The median constipation score was reduced in both groups, with the cases having significantly lower scores after the treatment (4 vs. 8, P0.000). Stool form normalized in 75.6% of the cases and 45.5% of the controls after the treatment (P0.01).Our results showed that using IF electrical stimulation as an adjuvant therapy to the medical and rehabilitation programs significantly boosts the effects of treatment among these patients.

Summary Background and aims Autoimmune hepatitis is a chronic immune-mediated liver injury caused by dysregulated immune response to liver antigens. Genetic susceptibility is affected by multiple single nucleotide polymorphisms in immune-related genes. There are few reports on the association of TGF-β and IL-10 genetic variants with autoimmune hepatitis. Methods Allele frequency and genotype status of IL-10 −1082, −819, −592 and TGF-β +869 and +915 polymorphisms were investigated in 57 unrelated patients with autoimmune hepatitis and 140 healthy controls by polymerase chain reaction with sequence-specific primers. Results IL-10 −592 and −819 allele frequencies and genotypes were not associated with autoimmune hepatitis in our population, while IL-10 −1082 genotypes were. IL-10 −1082/−819/−592 “high-producing” haplotype GCC was significantly less frequent in patients. TGF-β +869 “high-producing” allele C and genotype CC were significantly more in autoimmune hepatitis, compared to controls; whereas, TGF-β +915 “low-producing” allele C and genotype CC were significantly more in autoimmune hepatitis compared to control. TGF-β +869/+915 haplotype TG was significantly less frequent in patients while CC haplotype was significantly more frequently observed in patients. Conclusion We identified a significant association between IL-10 −1082/−819 and TGF-β +869/+915 genotypes and haplotypes with autoimmune hepatitis in Iranians.

Celiac disease is a chronic autoimmune disease in which gene-environment interactions cause the immune system to unfavorably react to naturally gluten-containing foods. PTPN22 plays a crucial role in regulating the function of various cells of the immune system, particularly T cells. Polymorphisms of the PTPN22 gene have been associated with many autoimmune diseases. The present genetic association study was conducted to investigate the possible associations between PTPNTT single nucleotide polymorphisms (SNPs) and celiac disease in an Iranian population.The study population consisted of 45 patients with celiac disease and 93 healthy controls. The study genotyped five SNPs of the PTPN22 gene: rs12760457, rs1310182, rs1217414, rs33996649, and rs2476601.Control and patient groups did not differ on the genotype distribution of four of five investigated SNPs in the PTPN22 gene, for example, rs12760457, rs2476601, rs1217414, and rs33996649. The only investigated PTPN22 variant, which could be associated with CD, was rs1310182. A significant increase in the carriage of the T allele of rs1310182 in CD patients was observed (OR (95% CI) = 11.42 (5.41, 24.1), p value0.0001). The TT genotype of this SNP was significantly associated with celiac disease. Our study suggests that the rs1310182 SNP of PTPN22 gene may be a predisposing factor of celiac disease in the Iranian population. Further studies are required to investigate the issue in other racial and ethnic subgroups.

A 2 years and 9 months old boy attended to a gastroenterology clinic of pediatric hospital for investigation of recurrent and intractable vomiting. He had post prandial, non-projectile, non-bilious emesis since past 2 years. Since the onset of illness, he was carried to many doctors and underwent extensive laboratory investigations. Because all of the science lab and imaging work up for etiology of emesis was normal and there wasn't any clinical response to medical treatment, psychological consultation with suspicion of psychogenic vomiting was done. After psychological consultation and treatment, including teaching the feeding techniques for mother, there was a dramatic recovery and the vomiting stopped. A diagnosis of psychogenic vomiting was made. He was discharged with the advice to attend regular supportive psychotherapy sessions.

Introduction: The Wilson disease is an autosomal recessive disease in which the liver, central nervous system, eyes, blood and other parts of the body involved. Timely diagnosis and appropriate treatment of the disease requires awareness of the clinical presentations of this disease in children.Methods: This case series study included 62 patients with Wilson disease who admitted to children's Medical Center in the years 2012-2003.Results: 56% of patients were male. The average age of diagnosis was 9.73 years old (5-17 years) and this was higher in patients with early neurologic symptoms (P = 0.85.( 64.5% of the patients had the hepatic symptoms at the time of diagnosis and the most common type of hepatic involvement was cirrhosis (39.3%) and hepatitis (17.5%) respectively. 17.7% of the patients also had early neurological symptoms. A positive family history for the Wilson Disease were found in 27.4% of patients. 74.2% of patients had KF ring and the frequency of these symptom was higher in patients with early neurological involvement. 83.9% of patients were treated successfully with D-penicillamine and In 30% of patients, adverse drug reactions were seen.Conclusion: Children with unknown liver disease should be evaluated for Wilson disease and the first-degree relatives of patients should be screened. . D-penicillamine have important side effects, but due to the low cost and the availability is an appropriate drug to treat the Wilson disease..Key words: Wilson Disease, Hepatic Involvement, Neurologic Involvement , KF ring ,D-Penicillamine.

Background: Helicobacter pylori (H.pylori) infection has an important role in promoting gastrointestinal disease in human. It may be acquired early in life, particularly in developing countries. The aim of this study is to evaluate the association between H.pylori infection and clinical manifestations in Iranian children.Materials and Methods: In this retrospective, cross-sectional study, H. pylori status was assessed by pathological examination of gastric biopsy in symptomatic children. A total of 266 patients were diagnosed as infected by H. pylori, compared with 268 uninfected patients matched by age and sex. Reported symptoms, endoscopic and pathological findings in the two groups were analyzed using chi square test. The limit of statistical significance was set at P

Background/Aims: Cystic fibrosis (CF), the most common hereditary, life-threatening disease, is caused by a mutation in the CFTR gene. Because different mutations can affect clinical manifestations of patients, this study was conducted to investigate the possible genotype-phenotype relationship in a group of Iranian patients with CF. Materials and Methods: This case-series study was conducted in 30 patients with CF who were referred to a tertiary pediatric hospital in Tehran. In this study, the DNA of the patients was evaluated for delta F508 mutation, whereas some parameters such as the age at diagnosis, the sweat chloride level, and clinical manifestations related to pancreatic insufficiency and pulmonary involvement were also assessed. Results: Among all the studied patients, 16.6% had a delta F508 mutation, either homozygote or heterozygote. The mean age at diagnosis was lower in patients with the delta F508 mutation, but the sweat chloride level tended to be higher in these patients. All the patients with the delta F508 mutation had exocrine pancreatic insufficiency, which tended to be higher than 84% in those without this mutation. In addition, all of these patients had pulmonary involvement, which tended to be higher than 64% in those with negative delta F508 mutation. Conclusion: According to the results of this study, the frequency of delta F508 mutations in Iranian patients appears to be much lower than what is seen in American and the European patients. In those with the delta F508 mutation, pulmonary involvement and pancreatic insufficiency are more common; the sweat chloride level tended to be higher, but the age at diagnosis was lower, all of which resemble a more severe form of disease.

Background/Aims Inflammatory bowel disease (IBD) is a chronic disease of the gastrointestinal tract, whose etiologies are still unknown. This study was performed to evaluate the humoral immune response in terms of B cell functions in selected IBD patients. Methods Eighteen pediatric patients with IBD, including 12 cases of ulcerative colitis (UC) and six with Crohn disease (CD), were enrolled in this study. The pneumococcal vaccine was injected in all patients, and the IgG antibody level to the polysaccharide antigen was measured before and 4 weeks after injection. The B cell switch-recombination process was evaluated. Results Five patients with IBD (three CD and two UC) had defects in B cell switching, which was significantly higher than in controls (p=0.05). Ten patients had a specific antibody deficiency and exhibited a higher frequency of bacterial infection than the healthy group. The mean increased level of IgG after vaccination was lower in IBD patients (82.9±32.5 µg/mL vs 219.8±59.0 µg/mL; p=0.001). Among the patients who had an insufficient response, no significant difference in the number of switched memory B-cell was observed. Conclusions A defect in B lymphocyte switching was observed in pediatric IBD patients, and especially in those patients with CD. Owing to an increased risk of bacterial infections in those patients with antibody production defects, pneumococcal vaccination could be recommended. However, not all patients can benefit from the vaccination, and several may require other prophylactic methods.

Girifl ve Amac: Kistik fibrozis en s›k karfl›lafl›lan kal›t›msal olumcul hastal›kt›r ve yenidoan taramas›n›n yap›lmad›¤› bolgeler- de hastalar gec tespit edilebilir. Erken tan› konulan kistik fibrozis hastalar›n›n sonuclar› dramatik olarak daha iyidir. Bu cal›fl- mada kistik fibrozis hastalar›nda ilk baflvuruda tespit edilen tan›ya goturen bulgular›n›n incelenmesi amaclanm›flt›r. Gerec ve Yontem: Bu cal›flma ‹ran'da birden cok pediatrik referans merkezinde gerceklefltirildi, hastalar›n tan› an›ndaki demografik, kli- nik ve labaratuvar verileri kontrol listesi ile kay›t alt›na al›nd›. Tum hastalar›n 2 adet ter klor testi mevcuttu. Bulgular: Kistik fibrozis tan›s› olan 197 hasta cal›flmaya dahil edildi. Bu hastalardan, 119'unun (%74) yafl› 6 aydan kucuktu ve 34 hastan›n (%21) yafl› 6-12 ay aras›ndayd›. En s›k karfl›lafl›lan klinik bulgular buyume gerilii (n=178; %90) , tekrarlayan akcier enfeksiyonlar› (n=139; %71) ve steatore (n=135; %69) olarak tespit edildi. En s›k karfl›lafl›lan radyolojik anormallik akcierlerde afl›r› havalan- mayd›. Terde tuz tad›, steatore, metabolik alkaloz, radyolojik anormallikler ve karacier testlerinde anormallik olan hastalar›n or- talama tan› yafl› dierlerine gore dufluk bulundu. Sonuc: Bu cal›flma sonuclar›na gore buyume gerilii, tekrarlayan solunum sis- temi enfeksiyonu, steatore, metabolik alkaloz ve tuzlu cilt tad› kistik fibrozis ile s›k karfl›lafl›lan bolgelerde klinikte uyar›c› olmal›- d›r. Bu bolgelerde, dikkat ve klinik fluphe ile hastalar›n erken tespit edilmesi mumkun olabilir. Anahtar kelimeler: Kistik fibrozis, tan›, klinik bulgular, tarama Background/aims: Cystic fibrosis is the most common inherited lethal disease, which could be frequently identified late in regi- ons without newborn screening. There are dramatically better outcomes in the early diagnosis of cystic fibrosis patients. This study aimed to evaluate the spectrum of manifestations of cystic fibrosis at first admission leading to diagnosis. Materials and Methods: This study was performed in a multi-referral pediatrics center in Iran. Data of patients with cystic fibrosis at the time of diagnosis were recorded based on a checklist denoting demographic characteristics, clinical and laboratory features. All of the patients had two documented sweat chloride tests. Results: One hundred and ninety seven patients with cystic fibrosis were enrolled in this study. Among them, 119 patients (74%) were less than six months and 34 patients (21%) were between 6 and 12 months of age. The most common clinical findings were failure to thrive, recurrent pulmonary infections, and steatorrhea in 178 (90%), 139 (71%), and 135 (69%) patients, respectively. The most common radiologic abnormality was hyperaeration. In patients with salty tasting skin, steatorrhea, metabolic alkalosis, radiologic findings, and liver function abnormalities, the mean age at the time of diagnosis was significantly low than in the subjects without these findings. Conclusion: This study suggests that some conditions such as failu- re to thrive, recurrent respiratory infections, steatorrhea, metabolic alkalosis, and salty tasting skin should be considered as clini- cal screening tools for cystic fibrosis, especially in regions with high rate of cystic fibrosis. In these regions, awareness and clinical suspicion of medical professionals are crucial for early diagnosis of cystic fibrosis patients in the pre-diagnostic period.

Introduction Poor weight gain is one of the most important mortality hazards in cystic fibrosis (CF) patients. The mechanisms that may hinder body weight regulation are not completely understood. Leptin and its role in fat mass could be related to control of weight gain in CF patients. As the previous data are conflicting, we aimed to investigate serum leptin level in Iranian CF children compared to a control group. Material and methods Forty-three CF patients aged from 3 to 120 months and 43 age-matched controls were enrolled. Patients were recruited from the outpatient clinic of the Children's Medical Center Hospital. Controls were visited in the general outpatient clinic for an annual check-up. Both groups were divided into three subgroups based on age: 3 to 12 months, 13 to 48 months, and 49 to 120 months. Body mass index (BMI) was calculated for all the participants. Serum leptin levels were measured applying a solid phase enzyme-linked immunosorbent assay (ELISA). Results Leptin levels and BMI values were significantly different between patients and controls (p = 0.02, p < 0.001, respectively) but only patients aged 13–48 months had significantly higher levels of leptin than age-matched controls (p = 0.016). Overall male patients’ mean leptin level was significantly higher than in female patients (p = 0.032) and male controls (p < 0.001). Conclusions Leptin level in our patients was significantly higher than controls. It seems that leptin levels during infancy are higher than in adult patients. Further studies are required on specific genotypes, gender and age to reveal the probable correlation with BMI and leptin levels in CF patients from different ethnic groups.

Background: Liver disease is increasingly common in pediatric cystic fibrosis (CF). Liver dysfunction in CF patients is an early complication and relatively common which may progress silently. Objectives: The purpose of this study was to determine the prevalence of abnormal liver architecture by Ultrasonography (US) and their associations to abnormal liver function tests particularly abnormal Gamma Glutamyl Transpeptidase (GGT), Alanine Aminotransferase (ALT), and Aspartate Aminotransferase (AST) level for its early detection before the complications occur. Patients and Methods: This study as a cross-sectional study was performed at the Children's Medical Center Hospital, Pediatrics Center of Excellence in Tehran, Iran. In all, 114 patients with cystic fibrosis (70 boys, 44 girls) were enrolled. Sample blood test including AST, ALT, GGT and abdominal Sonography was obtained from all patients. Abnormal liver function test was defined by two consecutive occasions; ALT and/or AST levels were ≥ 2 times the upper limit of normal values. GGT normal values were defined by patient age. Data were analyzed using χ2 test and independent T test. Statistical significance was defined as P values of < 0.05 by SPSS ver.19 software. Results: Abnormal liver function test was detected in CF patients. As well, liver sonogram was abnormal in approximately one-third of the patients. This study showed a higher prevalence of biochemical abnormality in patients with abnormal livers ultrasonography. Conclusions: Noninvasive paraclinical evaluation methods could be recommended in the patients with CF for early detection of silent liver abnormalities before progression to end stage liver disease.

INTRODUCTION: Cystic fibrosis (CF) is a common genetic disorder as a result of mutation in the CF transmembrane conductance regulator gene. Weight loss in CF patients seems to be multifactorial and metabolic factors, inflammation, recurrent infections and poor appetite are possible candidates. Ghrelin affects energy hemostasis by stimulating growth hormone secretion, glucose and lipid metabolism alteration and inhibition of the inflammatory system. Data on the role of ghrelin in energy deficiency in CF patients are sparse and controversial. The study was done to compare the plasma levels of the acylated form of ghrelin in CF patients with healthy participants. MATERIAL AND METHODS: Thirty cystic fibrosis patients (aged 1-168 months) and thirty healthy matched participants were enrolled in the study. Plasma ghrelin and albumin levels were measured and body mass index (BMI) was calculated as well. RESULTS: Plasma levels of acylated ghrelin in CF patients were significantly higher than the control group (mean 25-75%: 14.5 vs. 2.7, p = 0.032). Body mass index measurements in CF patients were significantly lower than the control group (p < 0.001). Using regression analysis there was no statistically significant correlation between plasma ghrelin levels and serum albumin, weight, height or BMI values in CF patients and controls. CONCLUSIONS: The acylated ghrelin levels are increased in CF. So plasma levels of acylated ghrelin could be used as an indicator of food uptake and energy balance in them. Further studies should be established to find out the exact role of factors affecting energy metabolism.

Introduction Infection is a major cause of morbidity and mortality in patients with cystic fibrosis (CF). Antimicrobial resistance of the bacterial spp. particularly methicillin resistance in Staphylococcus aureus has caused a lot of attention. The aim of this study was to describe the prevalence of S. aureus, Pseudomonas aeruginosa and Burkholderia cepacia-complex as well as their antimicrobial susceptibility patterns in CF patients in an Iranian referral pediatrics Hospital. Material and methods From March 2011 until February 2012, 172 samples were collected at the Children Medical Center (CMC), an Iranian referral hospital in Tehran, Iran. Sputum specimens were cultured for the following bacterial pathogens: P. aeruginosa, S. aureus, B. cepacia complex. Antimicrobial susceptibility was performed according to the Clinical Laboratory Standards Institute recommendations. Results In our study, 54% of the patients (n = 93) harbored at least once S. aureus, 30% (n = 52) P. aeruginosa, and 2% (n = 3) Burkholderia cepacia. In 40 patients (23%), none of these organisms was grown. An increasing colonization rate of P. aeruginosa in the second decade of life was found. In contrast, the colonization rate of S. aureus was constant in both decades of life. Methicillin resistant S. aureus (MRSA) was detected in 40 isolates (43%). Among MRSA, no resistance against vancomycin, linezolid and quinupristin/dalfopristin occurred. The susceptibility of P. aeruginosa isolates to meropenem, imipenem, doripenem, levofloxacin and polymixin B were more than 90%. Conclusion The prevalence of MRSA has been rising. Since its impact on clinical outcomes, optimal prevention and treatment strategies are unclear, further studies to expand the knowledge about the infection control strategies and MRSA treatment are highly recommended.

Objectives The aim of the study was to compare the quality of sedation with 3 different sedation regimens in upper gastrointestinal endoscopy (UGIE) in pediatric patients. Methods One hundred fifty consecutive children who underwent UGIE were randomly assigned to 1 of the 3 medication regimens. Patients in group A (n = 49) received placebo. Forty-five minutes after the placebo was given, repeated intravenous (IV) doses of 0.1 mg/kg midazolam were administered titrated to achieve a level of deep sedation. Patients in group B (n = 51) received oral ketamine instead of placebo, and patients in group C (n = 50) received oral fentanyl instead of placebo with the same methodology and sedation endpoint. Results The mean dose of midazolam administered in group B patients was remarkably lower compared with that of groups A and C. Patients in group B showed less distress in IV line placement and separation from parents, higher comfort level, more endoscopist satisfaction, and higher sedation depth compared with groups A and C. The recovery time was significantly shorter in group B. All of the 3 regimens were safe. All of the complications were managed successfully. Conclusions Our data suggest that synergistic sedation with oral ketamine and IV midazolam for UGIE in children is a suitable and safe sedation. The higher rate of vomiting in group B in contrast to previous studies must be caused mainly by the oral route of ketamine administration.