male infant with abetalipoproteinemia: a case report from Iran

Abetalipoproteinemia [ABL] is a very rare autosomal recessive disorder caused by mutations in the microsomal triglyceride transfer protein gene [MTTP]. ABL is characterized by lack of lipids and apolipoprotein B [apoB] in plasma, fat malabsorption and various clinical manifestations. We describe a 12-month-old infant boy, born from consanguineous parents and presented with diarrhea, steatorrhea, growth retardation, hypothyroidism, intraventricu-lar brain cyst and kidney stones. The patient was diagnosed to have ABL and treated with dietary modification and oral fat-soluble vitamin replacement and followed until he reached 5 years of age

Status of hepatitis B immunization in medical stuffs at Children Medical Center Hospital-Tehran

Hepatitis B is a disease caused by the hepatitis B virus [HBV], which is transmitted through percutaneous [i.e., puncture through the skin] or mucosal [i.e., direct contact with mucous membranes] exposure to infectious blood or body fluids. HBV can cause chronic infection, resulting in cirrhosis of the liver, liver cancer, liver failure, and death. Persons with chronic infection also serve as the main reservoir for continued HBV transmission. This is a prospective cross sectional study was performed in Children Medical Center Hospital on 396 medical personals [including 172 students, 92 interns, 56 residents and 56 fellowships] during September 2012 to October 2013. All of medical staff had done HB vaccination. In 93% of them the vaccination was complete. The others, 16% had only one, and 84% had two dose injections. 73% didn't check HBsAb after vaccination. Results showed in 21.4% of fellowships, 42.8% of residents, non of interns and 35% of students, had checked HBsAb. Hepatitis B is a vaccine-preventable disease. HB is a serious world wide infection and medical staff are one of the most high risk groups. So Vaccinate their and HBS Antibody titer determination after complete vaccination is mandatory

Evaluation of Antibody Response to Polysaccharide Vaccine and Switched Memory B Cells in Pediatric Patients with Inflammatory Bowel 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 microg/mL vs 219.8+/-59.0 microg/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.

Alpha 1 antitrypsin deficiency in infants with neonatal cholestasis

Alpha 1-antitrypsin deficiency [A1ATD] is the most important indication for liver transplantation in children. The gene frequencies vary in different ethnic groups. In the present study, we attempt to determine the frequencies of the most common defective alleles, Z and S, in Iranian children suffering from idiopathic neonatal cholestasis. Eighty-seven infants were typed for Z and S alleles. In a single center study, 87 consecutive liver biopsies from infants with cholestasis were reviewed and patients with neonatal cholestasis enrolled in the study and cases with confirmed biliary tract atresia excluded. Formalin fixed paraffin embedded blocks were used for DNA extraction. AAT genotype was determined by polymerase chain reaction [PCR] assay and amplification of the two most common deficiency variants, S and Z alleles, and then sequencing of PCR products. There were 48 [55.2%] males and 39 [44.8%] females, with a median age of 60 days. Out of 87 of the study subject, 2 [2.2%] were heterozygous for the S allele, and no ZZ, SS or MZ individual was found in the patients. No other polymorphism was found in the sequencing results. In comparison to other populations, AAT deficiency seems not to be an important etiologic factor for neonatal cholestatic liver disease in Iran; however, further studies are recommended to estimate the true mutant gene frequencies

Characteristics and outcome of three forms of autoimmune hepatitis in Iranian children

To define the clinical features, biochemical and histological findings and outcome of three forms of autoimmune hepatitis. In a cross sectional study between November 2001 to January 2008 in Tehran and Mashhad university of medical sciences, 61 children who diagnosed as AIH [40 girls and 21 boys] have been analyzed for their clinical, serological, and histological data. Variables analyzed included age, sex, clinical presentation, hepatic function, immunoglobulins, autoimmunity markers, histology and clinical evolution. According to the auto-antibodies profile, AIH patients were classified as type I AIH [ANA or smooth-muscle antibodies or both positive], type II [anti-LKM-1 positive] and type III [antibody negative]. We analyzed data of 61 children with AIH. 51 patients [median age: 10 [0.7-14] years had anti-nuclear and/or smooth muscle antibody [ANA/ASMA or both], 5 [median age: 7 [2-8] years] had liver/kidney microsomal antibody [LKM-1]. 5 patients had no detectable autoantibody. At presentation: 60% had jaundice or symptoms of acute hepatitis; LKM-1 positive were younger. Interface hepatitis was seen in 100% and fibrosis +/- cirrhosis were found in 70%. Frequency of AIH was 2:1 in girls. Type 1 was the most frequent diagnosis [83%] and was more frequent in older children. Relapse and treatment failure were common in type II. AIH may have different clinical presentation in children. Althout most of cases may have high inflammatory activity or cirrhosis, good response to treatment and remission may accur

Is there any association between passive smoking and esophagitis in pediatrics?

Exposure to environmental tobacco smoke [ETS] is one of the major factors of predisposing children to develop several hazardous health problems. We decided to investigate the association between nicotinine, one of the nicotine metabolites and esophagitis in children with gastroesophageal reflux disease [GERD]. In a case control study 46 children suffering from esophagitis referred to endoscopy ward were recruited. The control group consisted of 45 healthy children. Urine samples were collected and urinary cotinine level [UCL] measured. The mean age of esophagitis and control groups were 5.11 +/- 2.93 and 6.72 +/- 2.8 respectively. Sixty children were passive smokers; 31 of them had non-smoker parents. In control group, 32 [71.1%] children and in esophagitis group 29 [63%] children had non-smoker parents. The mean value of UCL in patients suffering from esophagitis was significantly higher than those in normal group [P=0.04, 24.98 +/- 6.4 ng/ml vs. 15.16 +/- 3.9 ng/ml]. Considering 50ng/ml as a cutoff point for UCL, it was significantly higher in passive smoker group than in non smoker group [P=0.02]. The mean cotinine level differed significantly in esophagitis and control group. Our results indicate the increased risk of developing esophagitis in children with ETS exposure

Probiotics for the treatment of pediatric helicobacter pylori infection: a randomized double blind clinical trial

Helicobacter pylori is recognized as a major etiological factor in the pathogenesis of gastritis and peptic ulcer disease. H. Pylori eradication has a failure rate of more than 30% in pediatric patients, particularly because of poor compliance, antibiotic resistance and occurrence of side-effects. This study was aimed to determine whether adding the probiotics to a standard anti-H. pylori regimen could minimize the gastrointestinal side-effect prevalence and improve the eradication rate. Double-blind randomized placebo controlled study conducted at Children's Medical Center in Tehran, Iran. Sixty six H. pylori positive children were treated with a triple drug treatment protocol [omeprazole+amoxycillin+furazolidon] and randomly allocated to receive either probiotic or placebo. All patients underwent esophagogastroduodenoscopy. H. pylori infection was diagnosed by either rapid urease test [RUT] or histology. H. pylori status was assessed after 4-8 weeks of the completion of treatment with stool H. pylori antigen test. The side effects of the treatment were determined in each group. Mean age of patients was 9.09 [range 3-14] years, 44 [65.7%] patients were boys [sex ratio 2:1]. All 66 patients completed the course of treatment and follow-up. The rate of H. pylori eradication was significantly higher in probiotic group [P=0.04]. In probiotic supplemented children there was a lower rate of nausea/vomiting [P=0.02] and diarrhea [P=0.039] during treatment. This study showed that probiotics have positive effect on the eradication of H. pylori infection. Adjuvant therapy with probiotic is recommended in order to reduce the frequency of antibiotic induced side-effects during treatment with antibiotics

Pseudotumor cerebri in a case of ulcerative colitis with sagittal sinus thrombosis

Thromboembolic events are a known complication of Inflammatory Bowel Disease [IBD] especially during disease relapse, more commonly in deep veins of extremities and lung, and rarely as Cerebral Sinovenous Thrombosis [CSVT]. We describe an 11 year old male patient with 3 months history of Ulcerative Colitis [UC] who presented as pseudotumor cerebri due to superior sagittal sinus thrombosis during an acute exacerbation of his colitis, that was successfully treated with heparin and then warfarin. In any known cases of UC presenting as acute severe headache, consider CSVT and request brain MRI and MRV to facilitate the diagnosis and early treatment

Prevalence of vitamin d deficiency and rickets in children with cholestasis in Iran

This study was aimed to determine prevalence of Vitamin D deficiency and rickets in children with cholestatic liver diseases. Forty eight children with established cholestatic liver disease who referred to gastrointestinal clinic of Children Medical Center [Tehran, Iran] between April 2010 and March 2011 were enrolled in a cross-sectional study. Laboratory analysis including calcium, phosphate, albumin, total and direct bilirubin, aminotransferases, alkalinephosphatase [ALP], prothrombin time [PT], parathyroid hormone [PTH], total protein determined by routine laboratory techniques. Mean age of participants was 299.1 +/- 676.8 days [range 2-3600 days] whereas twenty one were female [43.8%] and 27 [56.3%] were male. Twenty two [45.8%] had evidences of rickets in X-ray evaluation. Three children with rickets and two with normal X-ray had Vitamin D deficiency while ten in rickets group and 16 in normal group had Vitamin D insufficiency. The main underlying diseases were anatomical biliary atresia in cases with rickets and idiopathic in other group. Rickets and Vitamin D deficiency should be considered in chronic cholestatic children.

Upper endoscopic findings in children with recurrent abdominal pain: high prevalence of hiatus hernia

Recurrent abdominal pain [RAP] by itself is one of the common reasons in child-aged patients to refer to a clinician. Some of these patients are presented with more serious features, so-called the "red flag". The most important issue in management of RAP is to distinguish the type of it, whether it is functional or organic. In this study we aimed to assess the redundancy of red-flagged RAP with findings of esophago-gastro-deudonoscopy. In a 2 year prospective study 150 consecutive children with RAP who showed red flags underwent esophago-gastro-deudonoscopy. The prevalence of each finding was recorded. Overall positive predictive value of predicting an endoscopic finding while having a red-flag was calculated. Among all the patients, 126 cases showed at least a positive finding in their endoscopy that corresponded to the positive predictive value of 84% for predicting the presence of an endoscopic finding according to red flags. Interestingly, 20% of patients showed hiatus hernia when surveyed. Comprehensive physical examination is needed to avoid performing esophago-gastro-deudonoscopy without indication in patients with recurrent abdominal pain

Atomic absorption spectrometry in Wilson's disease and its comparison with other laboratory tests and paraclinical findings

Wilson's disease [WD] is an autosomal recessive disease with genetic abnormality on chromosome 13 causing defect in copper metabolism and increased copper concentration in liver, central nervous system and other organs, which causes different clinical manifestations. The aim of this study was to determine the sensitivity of different clinical and paraclinical tests for diagnosis of Wilson's disease. Paraffin blocks of liver biopsy from 41 children suspicious of WD were collected. Hepatic copper concentrations were examined with atomic absorption spectrophotometry [Australian GBC, model: PAL 3000]. Fifteen specimens had hepatic copper concentration [dry weight] more than 250 micro g/g. Clinical and laboratory data and histologic slides of liver biopsies of these 15 children were reviewed retrospectively. Liver tissue was examined for staging and grading of hepatic involvement and also stained with rubeonic acid method for copper. Patients were 5-15 years old [mean age=9.3 years, standard deviation=2.6] with slight male predominance [9/15=60%]. Five [33%] patients were 10 years old. Three [20%] of them were referred for icterus, 8 [54%] because of positive family history, 2 [13%] due to abdominal pain and 2 [13%] because of hepatosplenomegaly and ascites. Serum AST and ALT levels were elevated at the time of presentation in all patients. In liver biopsy, histological grade and stage was 0-8 and 0-6 respectively, 2 [13%] had cirrhosis, 1 [7%] had normal biopsy and 12 [80%] showed chronic hepatitis. Hepatic copper concentrations were between 250 and 1595 micro g/g dry weight. The sensitivity of various tests were 85% for serum copper, 83% for serum ceruloplasmin, 53% for urinary copper excretion, 44% for presence of KF ring and 40% for rubeonic acid staining on liver biopsies. None of the tests stated in the article were highly sensitive for diagnosis of WD, so we suggest that diagnosis should be based on combination of family history, physical examination and different tests

Red flags of organic recurrent abdominal pain in children: study on 100 subjects

A variety of sign, symptoms and laboratory findings are more common in children with organic abdominal pains. This study was performed to evaluate the prevalence of organic and functional abdominal pains and relation of red flags to organic pains in 100 children with recurrent abdominal pain [RAP]. One hundred consecutive patients with RAP were enrolled in the study. A complete interview and physical examination was made for each patient, accompanied by a series of laboratory, clinical and paraclinical examinations. The data were recorded and analyzed. Logistic regression analysis was used to model and formulize correlations between sign, symptoms, and laboratory findings with organic and functional abdominal pain. Among 100 patients [52% male, 48% female, Age: 9.29 +/- 3.17] diagnostic works up revealed organic pain for 57 patients. The most common symptoms of the patients included constipation, diarrhea, chest pain, cough, headache, vomiting, hematuria, and dysuria. Fecal incontinence, delayed puberty, organomegaly, jaundice, and family history of inflammatory bowel disease were reported in none of the patients with RAP. Fever, pain not located in periumbilical area, nocturnal pain, elevated erythrocyte sedimentation rate, weight loss, growth disorder, and abdominal tenderness were among the red flags which revealed diagnosis of organic pain in this study. A series of red flags could increase likelihood of finding organic pain in children with RAP

Prevalence of celiac disease in Iranian children with recurrent abdominal pain referred to a pediatric referral center

Clinical features of Iranian children with celiac disease [CD] are still unknown and there is scant information about atypical presentation of celiac disease from Iran. The aim of this study was to determine prevalence of CD in Iranian children presenting with functional abdominal pain [FAP]. In this cross-sectional study, 301 children affected by FAP were screened for CD by anti-tissue transglutaminase antibody [tTG IgA]. IgA antibody was also measured to exclude IgA deficiency. The antibodies were measured by enzyme linked immunosorbent assay. Diagnosis of CD was confirmed by duodenal biopsy that was scored according to the Marsh classification in cases with abnormal titer of tTG antibody. A total of 301 children [138 males, 163 females] with FAP were studied. Endoscopic duodenal biopsy was taken for patients with positive and borderline tTG test. Two out of 301 cases were IgA deficient and celiac disease was suspected for one of them based on histological findings. Four out of 299 patients with normal IgA had abnormal tTG titer; intermediate ranges [16-23 U/ml] were detected in 1 and positive ranges [>/=24 U/ml] in 3 cases. CD was suggested in all patients with abnormal titer of tTG [1.33%] based on histological findings. The prevalence of celiac disease in children with FAP is estimated 1.3% [nearly 2 times higher than in normal population] in Iran

Cow's Milk Allergy among Children with Gastroesophageal Reflux Disease

BACKGROUND/AIMS: Gastroesophageal reflux disease (GERD) and cow's milk allergy (CMA) are two common conditions that occur in infancy. This study was performed to investigate the frequency of CMA in a group of patients with GERD. METHODS: Eighty-one children with signs and symptoms of GERD were enrolled in this study. All subjects received omeprazole for 4 weeks after the initial evaluation. Empirical elimination of cow's milk from the diet was started for the patients who did not respond to the omeprazole treatment. RESULTS: Seventy-two cases presented with gastrointestinal signs and symptoms, whereas the remaining nine cases presented with respiratory complaints. After the initial treatment with omeprazole, two thirds of the cases (54 patients, 66.7%) responded well, and all of their symptoms were resolved. Cow's milk was eliminated from the diets of the remaining 27 patients. All signs and symptoms of GERD were resolved in this group after a 4 week elimination of cow's milk from the diet. CONCLUSIONS: A diagnosis of CMA was considered in one third of the pediatric cases with signs and symptoms of GERD. This finding shows that CMA can mimic or aggravate all signs and symptoms of severe GERD during infancy.

Evidence based medicine in pediatric practice: brief review

Practicing medicine according to the best evidence is gaining popularity in the medical societies. Although this concept, which is usually called Evidence Based Medicine [EBM] has been explained in many resources, it has not been addressed enough in pediatrics. In this review, we briefly explained Evidence Based Medicine approach and its applications in pediatrics in order to help the pediatricians to efficiently integrate EBM into their daily practice

Comparing oral route paraffin oil versus rectal route for disimpaction in children with chronic constipation; a randomized control trial

Functional constipation is a common and challenging problem in pediatrics. Fecal disimpaction prior to maintenance therapy is recommended to ensure successful treatment. The aim of this study was to compare the efficacy and patient's compliance of the two methods of paraffin oil administration [oral and rectal route] with the purpose of disimpaction in treatment of children with functional constipation. A total of 80 children [49 males and 31 females] aged 1-12 years, with functional constipation according to Rome III criteria, whose rectal examination confirmed fecal impaction were divided into two groups randomly. Group I received 3 ml/kg/day paraffin oil orally and group II received 3ml/kg/day paraffin oil rectally during 3 consequent days. Successful treatment was defined as no detectable fecal impaction in rectal examination after at most 72 hours. Patient compliance and family satisfaction also was evaluated using a scored questionnaire. Response to the treatment in both groups was with 92.5% and 82.5% in group I and II, respectively. So, there was no significant difference between the two methods of therapy. Family satisfying and compliance were obviously more achieved in group 1 [87.5% vs 57.5%] than in Group 2 [P<0.001]. No parents in group I complained about type of treatment while 12.5% of parents in group II were unsatisfied with the mode of paraffin oil administration. The most common side effect of paraffin oil in both groups was anal oil seepage [27.5%]. Nausea and abdominal pain were more common side effects in group 1 and 2 respectively. It seems that using paraffin oil per oral route in comparison with rectal route could be a preferred option for disimpaction in children causing less anxiety to the family

Reinfection rate after successful Helicobacter pylori eradication in children

Reinfection rate of Helicobacter pylori after successful eradication is low in developed countries. This study was performed to determine the reinfection rate of H. pylori during a follow up period of 12 months in Iranian children. In this prospective study, children with H. pylori infection were treated with triple omeprazole based regimen. Patients with negative [13]C urea breath test [UBT] performed after 8 weeks of therapy, were followed up by the same test after 1 year. Thirty seven patients, aged 5 to 17 years, were studied. Among them 25 [67.5%] were boys. After eradication therapy of H. pylori, 34 patients had negative [13]C UBT. Reinfection occurred in 5 [14.7%] patients. Reappearance or continuing symptoms after treatment were associated with higher rate of recurrence [P=0.042]. Recurrence rate of H. pylori was high in our children. Successful eradication significantly decreased complaints and further symptoms. Follow up and reevaluation of patients is necessary especially when there are symptoms after eradication

Determination of hepatitis C genotypes and the viral titer distribution in children and adolescents with major thalassemia

Hepatitis C virus [HCV] is an etiological agent responsible for occurrence of post-transfusion hepatitis in thalassemic patients. This study identified hepatitis C genotypes in pediatric and adolescent thalassemic patients and their correlation with age, blood transfusion, HCV RNA viral titer and liver function. This study considers cross-sectional data from the Center for Thalassemia in Zahedan [Iran] carried out between August 2005 and September 2007, Twenty multitransfused patients suffering from p-thalassemia major and chronic HCV infection [13 males, 7 females] were included in the study, Patients were considered eligible for the study if they were seropositive for HCV RNA polymerase chain reaction [PCR] before initiation of evaluation. Blood sample was taken for HCV genotype and viral titer as well as biochemical markers. Type specific primer and real-time RT-PCR HCV were used for determination of viral genotype and HCV-RNA titer. There was a significant positive correlation between serum HCV RNA titer and genotypes [P<0001]. Serum HCV RNA levels were found higher in genotype 3a than in others. The most prevalent genotype in thalassemic patients was genotype 3a [40%] followed by 1b [25%], unclassified [20%] and 1a [15%]. There was no meaningful relationship between genotype, Alanine aminotranferease, ferritin and alkaline phosphatase. Age, serum HCV RNA titer and number of transfusions were the only significant factors associated with genotypes [P<015, P<0.0001 and P<0.001 respectively]. This study showed that HCV genotype and viral titer are related to the number of blood transfusions received by thalassemic patients. Screening donated blood in blood banks would prevent the occurrence of hepatitis C in this high-risk group

Significance of deep section in small gastric biopsies.

Aim of Study: Chronic gastritis is defined as the presence of chronic mucosal inflammatory changes leading eventually to mucosal atrophy and epithelial metaplasia. This condition constitutes a background for dysplasia and thereby carcinoma. Detection of exact histopathology of inflammatory process is necessary in biopsy specimen. We designed the current study to determine the value of taking more sections in small gastric biopsies for better histopathologic evaluation. Materials and Methods: Gastric biopsy specimen of children who suffered from gastrointestinal (GI) symptoms was sent in 10% formalin to our laboratory. After routine processing, three slides with several sections on them were taken from the specimen: t0 he first was named the superficial section, the second was stained by Giemsa and the third was named deep section (further sections after this slide will diminish in size). The slides were not taken exactly consecutively but several sections were discarded between them. The purpose of this study is to compare the superficial and deep sections for detection of inflammatory processes. Results: In 1062 specimens the results of superficial section and deep section were the same (87.1%) and in 158 specimens the results were different. In 88 (7.2%) specimens deep section was diagnostic. The difference was seen usually as normal tissue in superficial sections but presence of lymphoid follicle in deep sections. The difference between superficial and deep sections was statistically significant. Although obtaining more sections will put an economic burden on the laboratory, we propose that in small gastric biopsies, it is helpful in better evaluation of histopathological changes.

Success rate of furazolidone-based triple therapy for eradication of helicobacter pylori in children

Helicobacter pylori [H. Pylori] is now recognized as a major etiological factor in the pathogenesis of gastritis and peptic ulcer disease. There is concrete evidence that eradication of the bacterium reverses histological gastritis, and results in significant reduction of duodenal and gastric ulcer recurrence. Poor compliance and antibiotic resistance are the main causes for failure of anti H. pylori therapy. In this study we determined efficacy of omeprazole based triple therapy with b.i.d. dosing of furazolidone, amoxicillin for 2 weeks and omeprazole in Iranian children. This prospective study included 37 children, in whom H. Pylori infection was diagnosed endoscopically. H.Pylori positive children were treated with a two weeks course of furazoidone [6 mg/kg/day] and amoxicillin [50 mg/kg/day] plus omeprazole [1-2 mg/kg/day]. Eradication was assessed by 13C UBT. Mean age of patients was 10.2 yr [5-15 yr], 25 [67.5%] patients were boys. H. Pylori was eradicated in 34 children [per patient 91.9%, per protocol 86%]. Side effects occurred in 3 [8.1%] patients, but these were mild and it was not necessary to discontinue treatment. Three children [8.1%] remained H. pylori positive. Our study showed that the association of furazolidone plus amoxicillin with a proton-pump inhibitor could be a valuable alternative for eradication of H. Pylori infection in children. It is an effective, affordable treatment that allows good compliance and produces low adverse effect rates