The effect of oral budesonide liquid therapy to alleviate clinical symptoms in patients with epidermolysis bullosa

Introduction: Epidermolysis bullosa is a genetic condition with skin fragility that leads to blister formation and erosion following minor trauma. This disease also involves the gastrointestinal tract by way of esophageal stricture and dysphasia. Some studies have recommended oral budesonide liquid therapy to decrease the need for balloon endoscopy and other aggressive treatments. The aim of the study was to evaluated clinical symptoms of patients who consumed oral budesonide in their daily routine therapies.  Methods: This cross-sectional study was conducted in Akbar Hospital of the Mashhad University of Medical Sciences. All enrolled patients were followed between July and October 2021. Ten milliliter oral budesonide (0.5 milligram) liquid was administrated one hour before eating. They were followed up to determine and document any side effects after treatment, and any improvement of clinical symptoms such as amelioration of dysphasia, volume of food intake, duration of food consumption, and kind of food consumed (solid versus liquid).Results: About fifteen patients were studied. The mean duration + SD of using budesonide was 9.66±15.76 weeks. The mean percentage + SD was 41.33±34.61 for improvement in the volume of food intake, and the mean for improving dysphasia + SD was 42±33.63%. Three patients suffered from complications (i.e., mucositis and gastric fullness). Also, two patients did not want to continue treatment because they did not like the drug taste.Conclusion: Oral budesonide liquid could be recommended for epidermolysis bollusa patients to improve clinical symptoms

The Prospective Assessment of Nutrition in Children with Cystic Fibrosis

Aims: Patients with Cystic Fibrosis (CF) have increased risk of malnutrition. Early detection of nutritional deterioration enables prompt intervention and correction. The aims of this project were to define the nutritional status of CF patients in Iran and New Zealand, compare and contrast the McDonald Nutritional Risk Screening (NRS) tool with the Australasian Guidelines for Nutrition in Cystic Fibrosis, and validate these results with each patient’s evaluation by their CF clinical team. Methods:Children with CF (2 - 18 years) were assessed during routine outpatient visits over one year. Anthropometric measurements were obtained. Both tools were applied and the results compared to their clinical evaluation (as gold standard) with calculation of specificity and sensitivity. Results:Under-nutrition was seen more frequent in the 33 Iranian children than in the 36 New Zealand (NZ) patients (39% versus 0%, p=0.0001), whereas over-nutrition was more prevalent in NZ children (9% versus 17%, p=0.05). At the first visit, both guidelines were able to recognize 77% and 61% of under-nourished Iranian patients, respectively. The mean sensitivity and specificity for all visits for the McDonald tool were 83% & 73% (Iran) and 65% & 86% (NZ). Sensitivity and specificity for the Australasian guidelines were 79% & 79% (Iran) and 70% & 90% (NZ). Conclusions: Both tools successfully recognised patients at risk of malnutrition. The McDonald tool had comparable sensitivity and specificity to that described previously, especially in Iranian patients. This tool may be helpful in recognizing at risk CF patients, particularlyin developing countries with fewer resources

HLADQ2 and HLADQ8 Alleles Are Associated with Celiac Disease in Children

Background: Celiac disease is the permanent intolerance to dietary gluten, the major protein component of wheat. The role of human leukocyte antigen (HLA) DQ2 heterodimer (DQA1*0501-DQB1*0201) in presenting gluten peptides to effectors T cells in celiac disease (CD) has been well documented. Epidemiological studies of the disease in Iran are not available. This study was aimed to investigate the frequency of HLADQ2 and HLADQ8 in children with celiac disease in Mashhad city. Methods: This case-control study was conducted on 25 celiac patients and 25 matched healthy controls for HLA typing of DQ2/DQ8. CD diagnosis was reached in 25 subjects, according to the revised criteria of the European Society for Pediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) and North American Society for Pediatric Gastroenterology, Hepatology and Nutrition criteria (NASPGHAN). Sensitivity, specificity, and negative and positive predictive values were calculated. Results: Mean age was 134.06±30.48 months in case and control groups, with no statistical difference between the two groups. 48% of cases and controls were male, and 52 % were female. HLA-DQ2/8 was positive with 80% (CI 95%:64-95), sensitivity was 80% (CI 95%:58-92), specificity 48% (CI 95%:28-68), NPV 70.58% (CI 95%:44-88), PPV 61(CI 95%:42.2-76.5) and accuracy was 64%. Conclusion: A positive association was found between HLA DQ2/8 and Iranian celiac disease. As negative and predictive values were high, HLA typing may be considered a beneficial test for diagnosis confirmation

The prevalence of malnutrition and other related factors among children with autism spectrum disorder (ASD)

Introduction:Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by difficulties with social interaction and communication, and by restricted and repetitive behavior. Children with ASD are at risk of nutritional problems that could impact growth and anthropometric indices over both the short and long term. The aim of present study was to determine prevalence of malnutrition and other factors related to the malnutrition among children and adolescent with autism disorder.Material and method:To assess the prevalence of malnutrition indicators among preschool children with ASD, a cross-sectional study was conducted among 81 children and adolescents who referred to subspecialized and specialized Autism Akbar Children‘s Hospital, Mashhad University of Medical Sciences, Mashhad, Iran. Weight and height measurements were assessed based on standard protocols. The z-score of anthropometric indices was determined for all participants. Participants were asked about nutritional problems by the interview from their parents. Result:In the current study, the mean ± SD of age was 10.1±3.7 years old. Among participants 3.7% were with Diarrhea, 33.3% with Constipation, 4.9% with Reflux, 3.7% with Flatulence, and 1.2% with Steatorrhea. The prevalence of both of food neophobia and food Allergy was 16%. Furthermore, 18.5% had poor appetite, 23.5% had moderate and 58% had good appetite. Based on standardized z-scores, the overall prevalence of under-weight, risk of overweight, overweight, and obese was 1.2%, 22.2%, 12.3%, and 7.4%, respectively. Among participants 4.9% was stunting.Conclusion:Based on aforementioned prevalence, improving nutritional problems and anthropometric indices among ASD children and adolescents are crucial issue

Utility of Modeling End-Stage Liver Disease in Children with Chronic Liver Disease

Abstract Introduction: Chronic liver diseases consist of wide spectrum disorders that may be complicated by cirrhosis and therefore need to transplantation. The pediatric end-stage liver disease (PELD) score and model of endstage liver disease (MELD) score has been used as predictors of mortality chronic liver diseases listed for liver transplantation. The aim of this study is evaluation of relation between PELD\MELD score and evidence of cirrhosis in children with choronic liver disease. Materials and Method: This cross-sectional study conducted on 106 patients of chronic liver disease referred to Ghaem haspital, Mashhad university of medical science, Iran during 24 months period (2010)(2011)(2012)(2013). PELD and MELD score were calculated for all patients. Clincal and patholoogical findings of cirrhosis were recorded. Results: Mean age of patients was 68/3 ± 41.8 months. Mean PELD\MELD score was -1/59± 9/64. There was significant correlation between PELD\MELD score and clinical icter, spelenomegaly, evidence of hepatopulminary syndrome, esophageal varices, evidence of cirrhosis in tissue specimences. Conclusion: PELD\MELD score appear to be benefit for detection of cirrhotic children among paients with choronic liver disease

Evaluation of Bone Densitometry Parameters in Children with Inflammatory Bowel Disease

Background: The present study was performed to assess densitometry indices in pediatric patients affected by Inflammatory Bowel Disease (IBD) in Mashhad city, east of Iran.Methods: Seventy pediatric IBD patients (8-18 age range) in Akbar Hospital in Mashhad were evaluated in terms of clinical parameters (age, sex, weight, height, IBD type, IBD activity, duration of disease, affected organ, management methods, treatment duration, hospitalization time, nutritional status and puberty), laboratory parameters (serum levels of vitamin D, albumin (Alb), calcium (Ca), phosphorous (P), sodium (Na), magnesium (Mg), Urea, creatinine (Cr) along with important hepatic enzymes aspartate aminotransferase (AST), alanine transaminase (ALT) and alkaline phosphatase (ALP)). Also, Dual-energy X-ray Absorptiometry (DXA) was applied for whole body and lumbar spine Bone Mineral Density (BMD) measurement.Results and conclusion: IBD was mostly manifested as ulcerative colitis (UC) (62.9%) and the disease duration and treatment course were mostly reported to be "over 6 months", with 88.6% and 84.3%, respectively. Most patients had normal (n = 43; 61.4%) and decreased (n = 20; 28.6%) nutritional status, sorted in tanner stage 4 (n = 40; 57.1%), had no hospitalization (81.4%), and received prednisolone (n = 33; 47.1%). Moreover, left colitis (n = 39; 55.7%) and pan colitis (n = 24; 34.3%) were the most affected parts. No statistically significant correlation was reported regarding lumbar BMD values in terms of gender, disease duration, treatment time, and IBD type. Also, there was no statistical association between the treatment type and involved tissues with lumbar and femoral BMD values among 70 examined children in the present study. Still, more studies are recommended to truly evaluate the bone densitometry parameters in children with inflammatory bowel disease

The Impact of Silymarin on the Symptom Severity in Pediatric Patients with Inflammatory Bowel Disease: A Randomized Clinical Trial

Background: Inflammatory Bowel Disease (IBD) is a multifactorial disease, posing significant challenges to public health. The aim of this study is to determine the effect of silymarin on the symptom severity in pediatric patients with IBD.Methods & Materials: This randomized clinical trial was conducted on children aged 5-18 diagnosed with IBD referred to the GI clinic at Akbar Children's Hospital in Mashhad. Those who met the inclusion criteria were randomly allocated into either the intervention or placebo group, each group consisting of 20 participants. In the intervention group, silymarin was administered three times daily in divided doses for three months. The control group received a placebo. To assess the efficacy of silymarin, PUCAI and PCDAI were evaluated for all patients at three different time points: before the intervention, during the first visit, and after the intervention. Data were analyzed utilizing the SPSS version 25, with a significance level set at p 0.05). However, a statistically significant difference was observed in the disease activity index score between the two groups during the second, and third evaluations (p<0.05)

Presentation of DNA Methyltransferase 3 Beta Mutation with Immune Deficiency and Dilation of Aorta and Esophagus

Background: Immunodeficiency, Centromeric region instability, and Facial anomalies syndrome (ICF) is a rare autosomal recessive disorder with Centromeric instability as a hallmark. Method: In this case report, we describe an Iranian 6-year-old male who was diagnosed with ICF syndrome. He had a history of recurrent infections, hydrocephalus report in pregnancy, failure to thrive, facial anomalies, global developmental delay, and umbilical hernia. Results: The investigation showed esophageal dilatation in barium swallow, ascending aortic dilatation in echocardiography and cutis laxa in skin biopsy. In laboratory data, impaired antibody function was observed. Finally, to find the probable causative genetic variant, a whole exome sequencing was performed. The data analysis using bioinformatics tools revealed c.1592G>A mutation in the exon 15 of DNMT3B. With respect to the diagnosis of ICF syndrome, our patient was treated with intravenous immunoglobulin (IVIG). Conclusion: It is necessary to perform periodic neurologic and ophthalmologic examinations. Echocardiography must be done annually. In addition, the possibility of HSCT should be evaluate

Gastrointestinal symptoms of patients with autism spectrum disorder

Background: Concern about possible GI dysfunction in ASD is intensified by high rates of feeding concerns and consequent medical sequelae in ASD. Etiological factors contributing to the pattern and prevalence of atypical intake in ASD remain elusive, but may involve pathophysiological processes in the GI tract. In this study, we evaluated the gastrointestinal symptoms of patients with autism spectrum disorder in Mashhad, Iran.Methods: This is a cross-sectional study performed during September 2015 and April 2018 on patients referred to pediatric gastrointestinal clinics of Ghaem and Noor Hedayat centers by definite diagnosis of autism spectrum disorder (ASD). All subjects were interviewed to answer some questions about the gastrointestinal manifestations like constipation, chronic abdominal pain, diarrhea, recurrent vomiting, gastro-esophageal reflux, nausea, and agitation. For each patient a checklist was completed including demographic, history and physical examination variables.Results: During the period of study, 46 definite ASD patients were enrolled in the study. The mean age of the participants was 7.72± 2.80 years (range: 2-16). Most of the patients were male (37, 80.4%). Diarrhea (occasional or chronic) was seen in six patients (13%) and constipation in 21 patients (45.7%).  There was no significant difference between the gastrointestinal symptoms and gender or age of the patients (P>0.05). An important finding in physical examination was tooth decay, which was found in 21 patients (45.7%).Conclusion: GI symptoms, with the high prevalence in ASD patients, should be considered as major problems; and preventive strategies must be taken for resolving them. Constipation was the most prevalent symptom, which can be related to the nature of the disease or other mechanisms

Assessment of the Blood Lead Level in Children with Unexplained Failure to Thrive (FTT) admitted to Pediatrics Emergency Ward of Ghaem Hospital, Mashhad, Iran

BackgroundLead is a strong and stable toxin, harmful especially to children, pregnant women, and the elderly. Nearly 27% of children aged under 5 years suffer from failure to thrive (FTT). Due to the probable harmful effects of lead poisoning on children’s growth, in this study we aimed to assess the blood lead level in children with unexplained failure to thrive.MethodsThis analytic cross-sectional study was performed on 200 children under 2 years of age who were referred to Ghaem hospital, a referral hospital in Mashhad city-Iran. The participants were divided into two equal groups, one with unexplained FTT (group A), and children with normal weight (group B). Baseline characteristics were obtained by a research-made questionnaire. Blood samples were taken by the hospital nurses who were blind to the study groups. Blood lead level was measured by atomic absorption spectrophotometric method (Perkin Elmer 3030). ResultsThe mean ± standard deviation (SD) of blood lead level in FTT group and control group were 7.3±3.32 µg/dL and 6.37±5.93 µg/dL, respectively. Blood lead level was significantly higher in FTT group than control group (P=0.001). Baseline Charactistics (such as hgender, parental educational level, gestational age, and socio-economic status of the family) were not significantly different between the two groups (P>0.05).ConclusionThe results of our study revealed that blood lead level was higher in children with FTT. So Lead poisoning may be a potential cause of unexplained FTT. So, measuring blood lead level can be useful in diagnostic workup of patients with FTT