A Rare Case of Spinocerebellar Ataxia Autosomal Recessive 21 Presented with Liver Disease.

Spinocerebellar ataxia autosomal recessive 21 is known as a very rare disease. It is caused by a homozygous mutation in the SCYL1 gene on chromosome 11q13 and presented in early childhood. The common presentations of this disease are recurrent episodes of liver failure, chronic liver fibrosis, cerebellar atrophy in early childhood, late onset of learning disabilities, and peripheral neuropathy. Diagnosis of spinocerebellar ataxia autosomal recessive 21 is challenging, especially due to the variety of clinical presentations. In the current study, we present an 11-year-old girl diagnosed with spinocerebellar ataxia autosomal recessive 21. She had multiple episodes of acute hepatic failure with later presentations of neurological dysfunctions. The diagnosis of spinocerebellar ataxia autosomal recessive 21 was made by genetic testing.

Comparing the Effect of a Herbal-based Laxative (Goleghand®) and Polyethylene Glycol on Functional Constipation among Children: A Randomized Controlled Trial.

OBJECTIVE: This study aimed to evaluate the effectiveness, safety, and document the reported adverse effect of a herbal-based laxative (Goleghand®) for the maintenance treatment of functional constipation in young children. METHODS: We conducted a randomized clinical trial from April 2019 to September 2020. Children aged 2-15 years with functional constipation defined according to the Rome IV criteria were eligible for study inclusion. Eligible children were randomly allocated to receive polyethylene glycol (PEG) or Goleghand®. The number and consistency of stools per day, painful defecation, abdominal pain, and fecal incontinence were reported weekly by parents. The statistical analyses were performed by determining means and standard deviations, t-test, Chi-square test, ANOVA repeated measures, and Fisher's exact test, with significance, accepted at the 5% level. FINDINGS: Sixty patients have been enrolled in the study. Parental satisfaction scores did not change significantly in either group or over the follow-up period. Our results showed that the effect of time (P < 0.001) and also the effect of group type (P = 0.01) on the number of fecal defecations was significant. The mean number of defecations increased first and then decreased significantly over time, but this decrease was more significant in the PEG group than in the Goleghand® group (P = 0.001). Furthermore, the effect of time on the fecal consistency score was significant (P = 0.047). The mean score of fecal consistency in both groups decreased over time. CONCLUSION: Goleghand® was similar in efficacy to PEG for 8 weeks of pediatric functional constipation treatment in this randomized clinical trial. Goleghand® can be considered as a new herbal laxative drug for pediatric functional constipation.

Comparative Evaluation between the LaxaPlus Barij® and Polyethylene Glycol (4000) in the Pediatric Functional Constipation in Children 2-15 Years Old.

Objective: This study aimed to compare the LaxaPlus Barij® and polyethylene glycol (4000) in pediatric (children 2-15 years old) functional constipation. Methods: The present study is a randomized clinical trial. The study population included patients with functional constipation aged 2-15 years who were referred to the gastrointestinal clinic of Imam Hossein hospital in Isfahan in 2019. Patients were randomly assigned into two treatment groups. Data analysis was performed using SPSS software. The significance level in the present study is considered <0.05. Findings: Sixty children with functional constipation were selected based on the inclusion and exclusion criteria in this study. The present study results showed no significant difference between demographic characteristics, including age, weight, and gender of children with constipation in the two groups (P > 0.05). The present study results showed that both groups' mean stool consistency and the number of bowel movements increased significantly after the intervention (P < 0.05). However, the number of bowel movements in the first group was significantly higher than in the second group (P < 0.05). Conclusion: The present study results showed that both drugs effectively treat children with functional constipation. However, after 8 weeks of intervention, the frequency of bowel movements, pain intensity, and abdominal pain in the group LaxaPlus Barij® was more effective. However, the level of satisfaction did not differ significantly between the two groups.

Predictive value of colonic transit time indices for differentiating nonnormal from normal sensation in children with chronic functional constipation identified by anorectal manometry.

BACKGROUND: Constipation is a common disorder in pediatrics, although the underlying pathogenesis is not fully understood. The current study aimed at evaluating the efficacy of different colonic transit time (CTT) indices for differentiating normal from nonnormal sensation in children with chronic functional constipation identified by anorectal manometry (ARM). MATERIALS AND METHODS: In this cross-sectional study, 47 children with chronic idiopathic constipation, aged 5-15 years, were studied. The total and segmental CTTs were estimated by administering multiple radiopaque markers for 6 days and performing a single abdominal radiograph on day 7. Anorectal function was evaluated using manometry with an Arhan probe. The predictive value of CTT indices was evaluated by receiver operating characteristic curve analysis. Area under the curve (AUC) along with 95% confidence interval (CI) as well as sensitivity and specificity was calculated. RESULTS: The mean age of the participants was 8.30 ± 2.99 years, with a mean constipation duration of 2.90 ± 0.46; 28 children were identified with nonnormal sensation. The mean values of CTT indices were statistically significantly longer in the nonnormal sensation patients than that in the normal group (P < 0.001). In addition, the mean values of manometry parameters were statistically significantly higher in nonnormal sensation patients than that in normal group (P < 0.01). Among CTT indices, rectosigmoid CTT (AUC [95% CI] =0.999 [0.99-1]; P < 0.001) with sensitivity = 100% and specificity = 94.7% and total CTT (AUC [95% CI] =0.972 [0.93-1] P < 0.001) with sensitivity = 82.3% and specificity = 100% had the highest predictive values for differentiating nonnormal from normal sensation patients. CONCLUSION: CTT is a simple and noninvasive technique for classifying patients with constipation. It can be used for identifying children suffering from chronic constipation with nonnormal sensation reliably, instead of ARM. Colonic inertia may be a manifestation of global motility dysfunction. Children with delayed distal colonic transits are more likely to have abnormal defecation dynamics.

Doppler assessment of children with liver cirrhosis and portal hypertension in comparison with a healthy control group: An analytical cross-sectional study.

BACKGROUND: Doppler ultrasonography (Doppler US) plays an important role in evaluating patients with liver cirrhosis. This study aims to investigate the hemodynamic alterations of hepatic artery and portal vein among children with liver cirrhosis and portal hypertension (esophageal varices). MATERIALS AND METHODS: We conducted an analytical cross-sectional study in Imam Hossein Children's Hospital, Isfahan, Iran, in 2016. A number of 33 cirrhotic children with or without esophageal varices were selected through convenience sampling method to be compared with 19 healthy children as controls using color and spectral Doppler US. RESULTS: Portal vein mean velocities were 15.03 ± 7.3 cm/s in cirrhotics, 16.47 ± 6.4 cm/s in controls (P = 0.51), 11.6 ± 4.7 cm/s in patients with varices, and 17.9 ± 7.3 cm/s in patients without varices (P = 0.015). Mean diameters of caudate lobe, portal vein, and splenic vein, as well as the mean values of liver and spleen span, were significantly higher in cirrhotic children. The frequency of flow reversal (hepatofugal flow) was not detected significantly different in cirrhotics. Peak systolic velocity, end diastolic velocity, pulsatility index, and resistive index for hepatic artery as well as liver vascular index were not significantly different in cirrhotics in comparison with controls. CONCLUSION: Alterations in Doppler parameters of portal vein including diameter and velocity may be the helpful indicators of liver cirrhosis and esophageal varices in children, respectively. Parameters of hepatic artery may not differentiate children with liver cirrhosis.

Establishment and Development of the First Biobank of Inflammatory Bowel Disease, Suspected to Primary Immunodeficiency Diseases in Iran.

BACKGROUND: Inflammatory bowel disease (IBD) might be an immunodeficiency rather than an excessive inflammatory reaction. IBD, suspected to primary immunodeficiency diseases biobank (IBDSPIDB) as a resource for researches can help improve the prevention, diagnosis, and illness treatment and the health promotion throughout the society. Therefore, we launched the biobank of IBDSPID for the first time in Iran. MATERIALS AND METHODS: This study was designed to provide the IBDSPIDB to have a high-quality DNA, RNA, and cDNA. Among of 365 patients, 39 have inclusion criteria that were as below: (1) IBD diagnosis before 5 years of age. (2) Resistance to conventional therapy of IBD. (3) Severe IBD. (4) Signs of SPID (including ear infections or pneumonia or recurrent sinus within the 1-year period; failure to thrive; poor response to the prolonged use of antibiotics; persistent thrush or skin abscesses; or a family history of PID). RESULTS: Out of 39 patients, 51.3% were males. The mean age was 32.92 ± 15.90 years old. Ulcerative colitis (79.5%) was more than Crohn's disease. The majority of patients (50.0%) had severe IBDSPID. Resistance to drugs and consanguinity was 12.9% and 47.4%, respectively. Age at onset in 65.8% of patients was after 17 years old. Patients with autoimmune, allergy, and immunodeficiency disease history were 33.3%, 33.3%, and 10.36%, respectively. RNA and cDNA yields large quantities of high-quality DNA obtained and stored. CONCLUSION: Our biobank would be valuable for future genetic and molecular study to be more about the relation between IBD and PID.

Effect of Metronidazole on Halitosis of 2 to 10 Years Old Children.

BACKGROUND: Regarding the fact that halitosis has social and personal aspects which can lead to social embarrassment and consequently low self-esteem and self-confidence in subjects suffering from the problem, especially children, its proper treatment is an important issue. OBJECTIVES: The aim of this study was to evaluate the effect of metronidazole as a nonspecific antimicrobial agent in the treatment of halitosis in children. MATERIALS AND METHODS: In this study, 2-10 years old children with oral halitosis were enrolled. Children without H. pylori infection and parasitic infection were randomized in two interventional and control groups. Metronidazole was given 5mg/kg/day for one week. Information regarding the demographic characteristics of studied population and halitosis (duration and time of day with more halitosis and its severity) before and after intervention was recorded using a questionnaire. RESULTS: 77 children with halitosis were studied in two interventional (40 children) and control (37 children) groups. There was no significant difference between two groups before intervention. After intervention, halitosis improvement rate - according to the reports of mothers of studied children - was higher significantly in intervention group (P < 0.05). CONCLUSIONS: The results support the effectiveness of metronidazole in the treatment of halitosis. Moreover, it supports recent findings regarding the participation of specific bacteria specially unculturable ones in the pathogenesis of the disease.

Stool antigen tests for the detection of Helicobacter pylori in children.

OBJECTIVE: Reliable non-invasive methods for detection of Helicobacter pylori (H. pylori) infection are required to investigate the incidence, transmission, and clearance of infection in childhood. Detecting bacterial antigens in stool offer an alternative noninvasive diagnostic test. However its accuracy in developing countries is not well established. The aim of this study was to evaluate the performance of stool antigen test for H pylori in Iranian children with recurrent abdominal pain necessitating endoscopy. METHODS: One hundred three children enrolled in this study. Endoscopy and biopsy was done on all patients providing a criterion standard for validation of the H. pylori stool antigen (HpSA) tests. The presence of H. pylori organisms in stool was determined by an enzyme-linked immunosorbent assay using a commercially available polyclonal antibody. HpSA sensitivity, specificity, and positive and negative likelihood ratios were determined with reference to the results of cultures of gastric biopsy. FINDINGS: Of the 103 children tested 41 (39.8%) and 39 (37.8%) were positive for H. pylori according to the results of cultures of gastric biopsy and HpSA, respectively. The sensitivity, specificity, and positive and negative likelihood ratios of HpSA were found to be 85%, 93%, 89.7%, and 90%, respectively. CONCLUSION: In this pilot study, a low-cost and rapid diagnostic technique, stool antigen test proved to be highly sensitive and specific for detecting H pylori infection in children with recurrent abdominal pain. Our results are comparable to those reported elsewhere in children and demonstrate that the HpSA test can replace endoscopy and biopsy for detecting H. pylori infection.

Cytomegalovirus colitis in a 10 year-old girl after kidney transplantation.

BACKGROUND: Cytomegalovirus is an important infection in kidney Transplantation. Isolation of the CMV virus or detection of its proteins or nucleic acid in any body fluid or tissue specimen is defined as "CMV infection". CASE PRESENTATION: A 10-year-old girl was admitted frequently for vomiting and colicky watery diarrhea starting one month after renal transplantation from a non-relative living donor. Cr, BUN, serum electrolytes and also liver function tests were normal. Anti CMV IgM titer was negative before and after transplantation. On colonoscopy large aphthous like lesions were detected in the colon. CMV PCR of the lesion was strongly positive (>2000 copies/ml). The patient received Ganciclovir. CONCLUSION: Usually CMV infected patients present with renal dysfunction after renal transplantation but other organ involvements must not be ignored. We report a patient presenting only with intestinal signs and symptoms of CMV infection.

Diagnostic value of serologic tests in celiac screening.

OBJECTIVES: Celiac disease is one of the malabsorption syndromes leads to growth and development retardation in children. There is no test lonely can definitely diagnose celiac; however, the collection of clinical findings, serologic tests, intestinal biopsy, and response to treatment may diagnose it. Although diagnostic value is variable in different studies, they are used a non-invasive and appropriate screening methods today. This study aimed to evaluate diagnostic value of celiac serologic tests in children less than 15-year-old. METHODS: During two years, this study conducted on children referred to Al-Zahra hospital (Isfahan, Iran). All the children who had duodenal biopsy tests were evaluated in terms of serologic tests and clinical symptoms due to suspected celiac. The results were analyzed through descriptive statistics, chi-square and Fisher's exact tests using SPSS software. RESULTS: 15.8 percent of children were under 2 years, 37.3 percent between age range of 2 to 12 years and 10.5 percent were above 12 years. 8.1 percent of children with negative anti-endomysial antibody (EMA) suffered from celiac; while 20.0 percent of children with positive EMA suffered from celiac. 15.4 percent of children with negative anti-gliadin antibody (AGA) had celiac; while 11.6 percent of those with positive AGA suffered from it. 11.1 percent of those with negative tissue transglutaminase antibody (tTG) and 37.5 percent with positive tTG suffered from celiac. CONCLUSIONS: According to our study results, there is no correlation between gastrointestinal symptoms such as vomiting diarrhea, anorexia, bulimia, and failure to thrive (FFT) with celiac. TTG was the best screening test method to diagnose celiac disease and other tests such as AGA and EMA do not have high diagnostic value.

The effect of different blood components on exchange transfusion outcomes.

BACKGROUND: Exchange transfusion (ET) has been known as an effective treatment in sever neonatal jaundice. Prescribing appropriate blood group makes an important role in patient's outcome and no single component is unequivocally the best. The purpose of this study was to evaluate the effect of ABO compatible packed cell, dried O, and routine O groups on exchange transfusion outcomes. METHODS: This multicenter clinical trial study is the combination of two studies which were conducted at three university hospitals (Isfahan University of Medical Sciences, Isfahan, Iran). A hundred full term infants with more than 2.5 kg body weight, serum bilirubin > or = 20 mg/dl and confirmed ABO-Hemolytic Disease of the Newborn (HDN) were participated in first study. Among 40 infants, 20 underwent the exchange transfusion with O packed cell (group 1) and other 20 were transfused with O dried packed cell (Hematocrit = 90%) (group 2). In the second study with the same eligibility criteria with first study, among the 60 infants, 30 had exchange transfusion with O packed cell (group 3) and the rest were transfused with infant isogroup (group 4). Serum bilirubin and hemoglobin (Hb) were evaluated before and 6, 12, 24 and 48 hours after the exchange transfusion. RESULTS: The means of Hb after the exchange transfusion were 14.3 mg/dl in group 1, 15.62 mg/dl in group 2, 14.98 mg/dl in group 3 and 14.30 mg/dl in group 4 with significantly higher in group 2 compared with others (p = 0.02). The mean of the bilirubin after the exchange transfusion had no statistical significant difference between the four groups (p > 0.05). The mean of Hb and bilirubin before exchange transfusion had no statistically difference between all groups (p > 0.05). The mean of bilirubin before the exchange transfusion in infants who had two transfusion was significantly higher than the mean of the bilirubin before the exchange transfusion in infants with one time transfusion (p = 0.05). There was no significant difference between four groups in exchange transfusion frequency (p > 0.05). DISCUSSION: This study indicated that the level of bilirubin before exchange transfusion is the only important factor which sometimes causes the necessity of second or third exchange.

Value of gluten patch test in diagnosis of celiac disease.

OBJECTIVE: Celiac disease is an intestinal disorder identified by mucus inflammation, villous atrophy and crypt hyperplasia. This disorder can be controlled by elimination of gluten from daily diet. Patients with celiac disease are at greater risk of gastrointestinal malignancy and non-Hodgkin lymphoma than are the general population. This study tries to present the value of gluten patch test for diagnosis of celiac disease. METHODS: In this investigation, the study population was divided into case and control groups. The case group consisted of patients with celiac disease. The control group were patients involved in celiac disease but suffering from other gastrointestinal disorders. Both gluten patch and placebo patch were attached to the skin between the scapulas. The results were read twice: 48 hours and 96 hours after the patch was applied. Patients who showed irritation reactions were withdrawn from this study. The results were analysed by SPSS software, Spearman's test, chi square, and Mann-Whitney tests. FINDINGS: The value obtained from the gluten patch test after 96 hours are as follows: specification at 95%, sensitivity at 8%, positive prediction value at 67%, and negative prediction value at 43%. CONCLUSION: It can be concluded that the gluten patch test is not an efficient test for screening of celiac disease, however, it can be useful for diagnosis of celiac disease if employed and studied with clinical symptoms and serologic and biopsy tests. Furthermore, we should doubt our judgment if the result of gluten patch test for the patient with celiac disease is positive.