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.

Population attributable risk fraction of modifiable risk factors associated with poor self-rated health among children and adolescent; the CASPIAN-V study.

BACKGROUND: We aimed to determine the population attributable risk fraction (PARF) of the risk factors for poor SRH in Iranian children and adolescents. METHOD: This was a nationwide cross-sectional study conducted in 2015 among 14,400 students aged 6-18 years, living in 30 provinces of Iran. Data were collected using global school health survey questionnaire. Logistic regression was employed to determine the adjusted association of modifiable risk factors with SRH. We used average PARF to determine the preventable proportion of poor reported SRH. RESULTS: Of 14,400 recruited students, data on 13,983 subjects were analyzed in current study. The mean (SD) age of participants (n = 13,983) was 12.3 (3.16) years, and 49.3% were female. Poor SRH was reported in 19% of subjects. In total, 77% of poor reported SRH in Iranian children and adolescents could be attributed to insufficient daily sleep duration, physical injury, lack of close friend, dissatisfaction with family relationship, and the lack of a companion to share personal problems. We also found that physical pain had the largest PARF (32.4%) followed by anxiety (26.1%) and un-satisfaction with family relationship (5.2%). CONCLUSION: The established physical and social support factors of poor SRH were associated with a remarkable proportion of poor SRH in the Iranian pediatric population. Changing the children's risk factor profile to the lowest physical risk factor as well as reducing the anxiety level and preventing from physical painsmay significantly improve the SRH of children and adolescents.

Helicobacter pylori infection in pediatrics with gastrointestinal complaints.

BACKGROUND: Helicobacter pylori is one of the most important pathogenic bacteria in gastric mucosa both in adults and pediatrics. Here we aimed to investigate the prevalence of Helicobacter pylori in pediatrics with gastrointestinal complaints by the endoscopic method and using pathology reports. METHODS: This is a cross-sectional study that was performed in 2019-2020 in Imam Hossein hospital affiliated to Isfahan University of Medical Sciences on medical documents of pediatrics that underwent gastric or duodenal biopsy via endoscopy. We collected data regarding patients' age, gender, place of residence, type of gastrointestinal complaints, and prevalence of Helicobacter pylori infection from the medical reports. We also investigated the possible correlation between the presence of Helicobacter pylori and the type of complaints among patients. RESULTS: A total number of 400 pediatrics entered the study. Abdominal pain was the most common complaint (42%). Helicobacter pylori infection was found in 31 cases (7.8%). The prevalence of Helicobacter pylori infection in boys (10.7%) was significantly higher than in girls (4.6%) (P = 0.02) and was significantly related to the age group of children (P<0.001) in the way that Helicobacter pylori infection was more common in higher ages. There was no significant relationship between the prevalence of Helicobacter pylori infection and the type of complaint (P = 0.29). CONCLUSION: We showed that the prevalence of Helicobacter pylori infection is low among pediatrics with gastrointestinal complaints and this issue could cast doubt on the high prevalence rates and importance of this infection in children.

Hyperuricosuria and hypercalciuria, probable etiologies of functional abdominal pain: A case-control study.

Background: Functional abdominal pain (FAP) is a common complaint causing several referrals to pediatricians. On the other hand, the most common presentation of hyperuricosuria and also hypercalciuria is chronic/recurrent abdominal pain. Therefore, a hypothesis has been raised; abdominal pain due to hyperuricosuria and/or hypercalciuria may be misdiagnosed as FAP. The current study has aimed to respond to this theory. Materials and Methods: This is a case-control study conducted on children diagnosed with FAP based on Rome IV criteria and age-matched normal controls. Blood and random urine samples were taken from healthy children and those with FAP. Random urine samples were examined for calcium, uric acid, oxalate, and creatinine concentrations. Random urine calcium to urine creatinine above 0.2 mg/mg was considered hypercalciuria and random urine uric acid above 0.56 mg/dl, GFR as hyperuricosuria. The data were analyzed using logistic models. Results: Hypercalciuric children had a significantly lower chance of FAP (odds ratio [OR] =0.425, 95% confidence interval [CI] =0.204-0.886). Although an inverse association was seen between hyperuricosuria and FAP (OR = 0.693, 95% CI = 0.395-1.214), it was not statistically significant. In stratified analyses by gender for both hyperuricosuria and hypercalciuria, a marginal inverse significant association was seen in male gender (P < 0.1). Conclusion: Our study showed that hypercalciuria is significantly in inverse association with FAP but not hyperuricosuria. Therefore, these disorders, particularly hyperuricosuria may not be considered as the possible causes of FAP. Further studies with larger sample size for providing more reliable evidence are recommended.

The Effectiveness of Synbiotic on the Improvement of Clinical Symptoms in Children with Eosinophilic Esophagitis.

Background: Eosinophilic esophagitis (EoE) is an allergic inflammatory disorder of the esophagus. Today, probiotics are included as adjuvant therapy in the treatment of allergic diseases. The aim of this study was to assess the effect of synbiotic on clinical symptom improvement in EoE patients. Methods: This study is designed by a double-blind, placebo-controlled clinical trial with two parallel groups, which was performed on 30 children with eosinophilic esophagitis. All participants were children aged 6 months to 15 years. Both groups received the same treatment (elimination diet, topical steroid, and proton pump inhibitor). A synbiotic (KidiLact) was added to the medication regimen of 15 patients (case), while the next 15 patients received a placebo (control). Severity and frequency of symptoms were assessed with a checklist derived from a validated scoring tool in both groups before and after 8 weeks of treatment. Results: There was a significant reduction in the severity score of chest pain and poor appetite (P value < 0.05) in the case group taking probiotics, while nausea and poor appetite were the only symptoms with a significant reduction in the frequency score after intervention in this group. Conclusion: Probiotics can be used as adjuvant treatment for patients with EoE. Improvement in the severity of chest pain and poor appetite and reduction in the frequency of nausea and poor appetite in these patients can be seen.

Association of vitamin D status and cardio-metabolic risk factors in children and adolescents: the CASPIAN-V study.

BACKGROUND: Metabolic syndrome (MetS) starts from early life and is one of the important underlying factors for non-communicable diseases (NCDs) in adulthood. Controversial evidence exists on the role of vitamin D deficiency in increasing the risk of pediatric MetS. OBJECTIVE: This study aimed to assess the relationship between vitamin D level with MetS and its components in children and adolescents. METHODS: This nationwide cross-sectional study was performed as part of a surveillance program in Iran. Participants were 2596 students, aged 7 to 18 years, living in 30 provinces. In addition to filling questionnaires, a physical examination was conducted, and blood samples were collected. The serum concentration of 25-hydroxy vitamin D (25(OH)D) was measured using the direct competitive immunoassay chemiluminescence method. RESULTS: 2596 students with a mean age of 12.2 y (55.1% boys) were recruited. Prevalence of vitamin D deficiency and insufficiency in participants was 10.6% (n = 276), and 60.5% (n = 1570), respectively. The prevalence of MetS was higher in the vitamin D deficient group. Students with deficient vitamin D levels had higher odds of MetS (OR: 4.25, 95%CI: 2.26-7.98), abdominal obesity (OR: 2.24, 95%CI: 1.61-3.12), low HDL-C (OR: 1.65, 95%CI: 1.18-2.30) and high fasting blood sugar (OR: 2.56, 95%CI: 1.43-4.57) in comparison to those with sufficient level of vitamin D. CONCLUSION: Vitamin D deficiency was associated with increased odds of MetS and its components in the Iranian pediatric population. These findings underscore the importance of prevention and control of vitamin D deficiency in preventative programs against NCDs.

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.

Effect of l-carnitine supplementation on children and adolescents with nonalcoholic fatty liver disease (NAFLD): a randomized, triple-blind, placebo-controlled clinical trial.

OBJECTIVES: Nonalcoholic fatty liver disease (NAFLD) is one of the most common liver diseases in the pediatric population at global level. Present study aims to assess the effect of l-carnitine supplementation on the NAFLD in children and adolescents. METHODS: This randomized, triple-blind, placebo-controlled clinical trial was conducted in 2018-2019. Study was carried out in NAFLD participants (5-15 years). They were randomly assigned to receive either 50 mg/kg/day l-carnitine twice a day or identical placebo per day for three months. Liver enzymes and liver ultrasonography were assessed before and after the intervention. Both groups received similar consultation for lifestyle changes. RESULTS: Overall, 55 participants completed the study, 30 patients in the l-carnitine group and 25 patients in placebo group. Mean changes of anthropometric measurements did not have significant differences between groups (p>0.05). No significant differences in the mean changes of aspartate aminotransferase (AST) (p=0.82) and alanine aminotransferase (ALT) (p=0.76) levels were documented between two groups. Based on within-group analysis, there were significant changes in AST and ALT levels before and after the intervention in both groups. The sonographic grades of fatty liver were not significantly different between two groups before (p=0.94) and after intervention (p=0.93). CONCLUSIONS: In the present clinical trial, L-carnitine did not have significant effect on improving biochemical and sonographic markers of NAFLD in children and adolescents. Future studies are necessary to evaluate the applicability and efficacy of long-term l-carnitine supplementation to treatment of NAFLD in pediatric population. TRIAL REGISTRATION: IRCT20170628034786N2.

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.

Association of serum 25-hydroxyvitamin D concentration with anthropometric measures in children and adolescents: the CASPIAN-V study.

BACKGROUND: Serum 25-hydroxyvitamin D (25(OH)D) concentrations reflect vitamin D status, with deficiency implicated as an underlying factor for many adverse health effects. This study aims to analyze the association between vitamin D status and different anthropometric measures in a large pediatric population. METHODS: This nationwide cross-sectional study was conducted in 2019 in blood samples obtained from school students of 30 provinces in Iran. Participants were 2596 children and adolescents aged 7-18 years. Weight, height, waist circumference (WC), hip circumference (HC), neck circumference (NC), and wrist circumference (WrC) were measured. Body mass index (BMI) and waist-to-height ratio (W/HtR) were calculated. Serum 25(OH)D concentrations were measured using chemiluminescent immunoassay. RESULTS: Participants consisted of 55% boys, 71.3% urban inhabitants, with a mean (SD) age of 12.1 (3.0) years. Overall, vitamin D deficiency was documented in 10.6% of participants, insufficiency in 60.4%, and sufficiency in 29% of the population studied. The mean of BMI and WC was higher in the vitamin D deficient than in the vitamin D sufficient group (19.31 kg/m2 and 69.24 cm vs. 18.34 kg/m2 and 65.73 cm, respectively, P < 0.01). Multivariate linear regression models revealed a significant association of vitamin D insufficiency with WC and W/HtR (P < 0.05). Likewise, in the multivariate regression models, vitamin D deficiency was associated with BMI, WC, and W/HtR (P < 0.05). CONCLUSION: Our findings on the inverse association between vitamin D status and some anthropometric measures underscore the importance of providing vitamin D by fortification and supplementation programs of vitamin D for the pediatric population. LEVEL OF EVIDENCE: V.

Factors Associated with Tendency for Weight Loss in a Representative Sample of Children and Adolescents: The CASPIAN-V Study.

BACKGROUND: This study aims to determine the factors affecting the tendency to lose weight (TLW) and its methods in Iranian children and adolescents. METHODS: In this cross-sectional nationwide study 14800 students, aged 7-18 years, living in 30 provinces of Iran were selected via multistage cluster random sampling method. The dietary and physical activity habits and TLW as well as psychosocial health status, anxiety, self-satisfaction, and change in dietary behaviors were assessed by the global school-based student health survey (WHO-GSHS) questionnaire. Multivariate logistic regression model was used to identify factors influencing TLW. RESULTS: Overall, 14274 students (participation rate of 99%), consisting of 51% boys and 71.4% urban residents, completed the study. Of them, 37.7% (51.4% Girls and 48.6% boys) tended to lose weight. In multivariate model, the odds for TLW was 12% higher in students aged 13-18 years than those aged 6-12 years (OR = 1.12, 95% CI: 1.02 to 1.23; P < 0.001). Students with high anxiety level were 43% more likely to have TLW (OR = 1.43, 95% CI: 1.28-1.59; P < 0.001). The odds of increasing physical activity for weight loss was 22% lower in obese than in normal weight students (OR = 0.78, 95% CI: 0.66 to 0.93; P < 0.001). CONCLUSIONS: TLW was significantly higher in girls, as well as in those with higher anxiety level. In addition to dietary change, increasing physical activity should be encouraged among children and adolescents with excess weight. Public education regarding proper lifestyle change for reaching healthy weight should be underscored.

The efficacy of low and moderate dosage of diazepam on sleep bruxism in children: A randomized placebo-controlled clinical trial.

BACKGROUND: Sleep bruxism (SB) in children is commonly a self-limited problem; however, therapy of the condition may be needed to improve sleep quality of parents and children. Benzodiazepines have some success in controlling adult bruxism. The objective of this study was to evaluate the effect and the safety of a short course of diazepam on controlling SB in healthy children. MATERIALS AND METHODS: In this double-blind, randomized placebo-controlled clinical trial, 109 children with SB were randomly assigned to three groups, receiving low or moderate dose of diazepam or placebo for 2 weeks. For children aged 2-8 years, the dose of 2.5 and 5 mg was considered as low and moderate dose consequently. In children >8 years, the doses were doubled. The severity of SB was evaluated at the beginning and also 2, 8, and 12 weeks thereafter. Data were collected by a questionnaire completed by parents including frequency of SB per week and per night and duration of each SB, as bruxism severity score (BSS). A mixed-model ANOVA was used to assess the differences of mean BSS between different groups and measurement times. RESULTS: From 109 children recruited, 90 completed the study. After 2 weeks of intervention, the mean BSS decreased significantly in all groups (P = 0.0001), but it was not significantly different between groups in any of follow-ups (P = 0.554). Next-day sleepiness was assessed at week 2 of the study and was significantly higher in the groups using diazepam (P = 0.026). CONCLUSION: Short course of diazepam was not more effective than placebo for long-term control of SB in children.

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.

Are non-high-density lipoprotein fractions associated with pediatric metabolic syndrome? The CASPIAN-V study.

BACKGROUND: Non-high-density lipoprotein cholesterol (non-HDL-C) is considered as a valuable predictor for dyslipidemia and subclinical atherosclerosis which can be an appropriate index for identifying individuals with metabolic syndrome (MetS). OBJECTIVE: To evaluate the association between non-HDL-C MetS and determine the optimal cut-points of non-HDL-C fractions for identifying MetS in Iranian children and adolescents. METHODS: This nationwide study was conducted in the framework of the fifth survey of a national school-based surveillance program on children and adolescents aged 7-18 years. MetS was defined by the Adult Treatment Panel III (ATP III) criteria modified for the pediatric age group. The analysis of receiver operating characteristic (ROC) curve was applied to determine the optimal cut-points of non-HDL-C, difference between non-HDL-C and LDL-C (Diff-C) and triglycerides (TG) to HDL-C ratio (TG/HDL-C) for the prediction of MetS. RESULTS: Overall, the study participants consisted of 3843 students (52.3% boys) with mean (±SD) age of 12.28 (3.1) years. The odds of high LDL-C, low HDL-C and MetS were increased in subjects with higher non-HDL-C, Diff-C and TG/HDL-C (P < 0.05). Non-HDL-C, Diff-C and TG/HDL-C cut-off points for predicting MetS were 120.5 mg/dl (sensitivity: 44%, specificity: 73%), 19.9 mg/dl (sensitivity: 85%, specificity: 75%) and 2.53 (sensitivity: 82%, specificity: 79%), respectively. CONCLUSIONS: This study revealed a strong association between surrogates for serum lipid profile including non-HDL-C, TG/HDL-C and Diff-C and pediatric MetS. Our findings suggest that age- and gender-specific reference values of these markers were appropriate for both risk classification and long-term control of cardiovascular events in clinical assessments.

Association of Serum 25-hydroxyvitamin D Levels and Liver Enzymes in a Nationally Representative Sample of Iranian Adolescents: The Childhood and Adolescence Surveillance and Prevention of Adult Noncommunicable Disease Study.

BACKGROUND: Hypovitaminosis D is highly prevalent and has several adverse health effects. This study aims to assess the relationship of serum concentrations of 25-hydroxyvitamin D (25[OH] D) and liver enzymes in adolescents. METHODS: This population-based cross-sectional survey was conducted among a nationally representative multistage sample of 1095 adolescents (52% boys), aged 10-18 years, living in different provinces of Iran. Serum 25(OH)D concentration <30 ng/mL was considered as hypovitaminosis D, and liver enzymes (alanine aminotransaminase [ALT] and aspartate aminotransaminase [AST]) of >40 U/L was considered as high level. To determine the association between serum 25(OH)D categories and elevated levels of liver enzymes, multiple regression models and linear regression analysis were applied, after adjustment for potential confounders. Odds ratios (95% confidence interval) of serum 25(OH)D and elevated liver enzymes were assessed by logistic regression analysis. RESULTS: Higher rates of Vitamin D deficiency were documented among individuals with increased levels of liver enzymes. Compared to boys, median of 25(OH)D was lower in girls with elevated levels of liver function tests (12.75 vs. 25.60 ng/mL for ALT and 13 vs. 14.10 ng/mL for AST), with marginally significant gender differences regarding AST. CONCLUSIONS: We found a relatively high frequency of hypovitaminosis D among adolescents with abnormal liver function. Further prospective studies are needed to examine these associations from early life.

Effects of zinc supplementation on subscales of anorexia in children: A randomized controlled trial.

OBJECTIVES: This study aims to assess the effects of zinc supplementation on improving the appetite and its subscales in children. METHODS: This study was conducted in 2013 in Isfahan, Iran. It had two phases. At the first step, after validation of the Child Eating Behaviour Questionaire (CEBQ), it was completed for 300 preschool children, who were randomly selected. The second phase was conducted as a randomized controlled trial. Eighty of these children were randomly selected, and were randomly assigned to two groups of equal number receiving zinc (10 mg/day) or placebo for 12 weeks. RESULTS: Overall 77 children completed the trial (39 in the case and 3 in the control group).The results showed that zinc supplement can improve calorie intake in children by affecting some CEBQ subscales like Emotional over Eating and Food Responsible. CONCLUSION: Zinc supplementation had positive impact in promoting the calorie intake and some subscales of anorexia.