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

Childhood vulvovaginitis

Background: The aim of this study was to evaluate clinical findings, microscopic examination and culture of vaginal secretions, and response to treatment in prepubertal girls with vulvovaginitis.Methods: We studied prospectively over a period of about 6 years in a clinic for pediatric kidney and urinary tract diseases, 171 girls aged 2.5 -8 years with urogenital symptoms.Findings: Dysuria, erythema, itching, soreness, and vaginal discharge were frequently observed genital symptoms and signs. Pathogenic bacteria were isolated in 27% of cases, Streptococcus pyogenes being a common agent. Nonpathogenic enteric flora was isolated in about 43%. There was no growth of bacteria in 30%. Poor hygiene was an associated factor in those with nonpathogenic positive culture (p = 0.001). Purulent vaginal discharge occurred more in cases with vulvovaginal pathogenic infection than in those with negative culture, and this difference was statistically significant (P<0.001). Also there was significant difference in WBC count in vaginal smears of patients with pathogenic bacteria and of those who had no growth of pathogens (p<0.001). Candida and sexually transmitted agents were not found in any of the girls. Labial fusion was not an uncommon abnormality. Simple measures to improve hygiene and use of local estrogen were effective in the patients with nonpathogenic and nonspecific etiology. Conclusion: Physical examination of genital area should be done in all girls with genitourinary symptoms. Antibiotic should be prescribed based on bacteriologic culture of vaginal secretion. Appropriate hygienic practices and local estrogen application is the most effective therapy in children with noninfectious vulvovaginitis

Maternal Knowledge and Practice in Mashhad City about Breast-feeding in First 6 -Month of Infant's Life

Introduction: Breastfeeding is an important principle in pediatric health. It decreases their mortality and protect them fromm diseases in the first 6-month of life. This study aimed to determined Maternal Knowledge and practice in Mashhad City about Breast-feeding in first 6 -month of Infant's life.   Materials and Methods: This Analytic study was conducted on 105 mothers who had a child between 6 to 12 months,and selected by the cluster sampling and simple random, completed the Knowledge and Practic questionnaire who was made by researchers. Information were analyzed by descriptive- analytical test (ANOWA,T-test,corelation) in spss software in version11.5.   Results: This findings showed that 72/4% of infants have had exclusive until end of the first 6-month.  breast-feeding. Average of maternal knowledge about exclusive breast-feeding was 19/818+4/545 of total score 28 and average of maternal practice was 7/106+2/338 of total score 12. Status of growth infants at 4/8% was very good and in 42/9% was good. There was a significant relationship between maternal practice about Breast-feeding and fathers' education, number of children, status of growth (

Nutritional Assesment in Cystic Fibrosis Patients( Iran and Newzeland)

Introduction: Patients with Cystic Fibrosis 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 MacDonald Nutritional Screening tool  with the Australasian guidelines for Nutrition in Cystic Fibrosis -    Validate these results in comparison with patient’s evaluation by their CF clinical team.   Materials and Methods: 69 CF patients (2-18 years) were assessed during routine outpatient visits over one year. Anthropometric measurements were obtained. Both tools were applied for each patient and the results compared to their clinical evaluation (as gold standard) with calculation of specificity and sensitivity. Results: Under-nutrition was more frequent in Iranian than 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, MacDonald and Australasian guidelines were able to recognize 77% and 61% of under-nourished Iranian patients, respectively. The mean sensitivity and specificity for all visits for the MacDonald 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 MacDonald 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, particularly in developing countries with fewer resources. Key words: Iran, Cystic Fibrosis Patient, Newzeland, Nutritional Assesment

Diagnostic Accuracy of Polyclonal Stool Antigen for Detection of Helicobacter Pylori Infection in Children

Introduction: Helicobacter pylori infection has various clinical features. One of the most common presentations of this infection is upper abdominal pain. Complications such as gastritis, gastric ulcer, gastric carcinoma and MALT lymphoma mandate early diagnosis of H.P infection by a low cost and non invasive manner. The aim of this study was to evaluate the diagnostic role of H.P stool antigen detection as a simple and non invasive method for diagnosis of this infection.   Materials and Methods: Upper endoscopy with gastric biopsy was done on all patients between 6 months to 18 years old with upper abdominal pain. Stool test was done by polyclonal anti-h.p antibody. Results of stool Test were compared with results of RUT and histologic examination   Results: Overall 110 patients (57 boys,53 girls) were studied, 32 patients were Helicobacter pylori positive and 78 patients were Helicobacter pylori negative based on RUT and histologic examination. Stool antigen testing was positive for 39 patients. Sensitivity and specificity of stool Ag were 100% and 91% respectively.   Conclusion: Stool Ag test has high sensitivity and negatity predictive value for diagnosis of Helicobacter pylori infection.   Keywords: Helicobacter pylori, Sensitivity, Stool antigen test, Specificity

Synbiotic for Prevention of Antibiotic-Associated Diarrhea in Children: A Randomized Clinical Trial

Introduction Antibiotic- associated diarrhea is a common problem in pediatric population. There is growing interest in probiotics, probiotics and synbiotics for prevention of this complication because of their worldwide availability as dietary supplements. The aim of this study was to assess the efficacy of a synbiotic mixture in prevention of antibiotic- associated diarrhea.   Materials and Methods:  In this randomized controlled  trial,  218 patients ( 111 in the synbiotic and 107 in the placebo group) aged 6 months to 14 years with respiratory tract infection and/ or otitis media who needed antibiotic treatment in outpatient setting, were enrolled. They received 1 billion Colony Forming Unit of seven probiotics species plus Fructooligosaccharide in form of powder  or placebo ( matched for size, shape, and volume) for 7 days. Amoxicillin, Amoxicillin-clavalanic acid, cefixim and Azithromicin were the most common drugs used by physcicians Mothers recorded stool frequency and consistency daily for 7 days.   Results: We found no significant difference (P>0.05) in occurrence of diarrhea between synbiotic and placebo groups.   Conclusion: This synbiotic mixture did not appear to reduce antibiotic- associated diarrhea in children. Further studies are needed to investigate the potential benefits of Synbiotics in prevention of this disease.

Effect Supermint oil (peppermint oil) on Patient Satisfaction and the Colonoscopy team during Colonoscopy

Introduction: Colonoscopy is an invasive method that is painful for patient especially for children. The objective of this research was investigation into the effect of supermint oral drop (peppermint essence) on the patient and colonoscopist group satisfaction during colonoscopy.   Material and Methods: In this clinical trial study, 101 children candidate colonoscopy (7-14 years old) in children’s medical center were randomly divided into two groups, case (n=51) and control (n=50) respectively. Control group received placebo and about half an hour before the colonoscopy control group case group was administrated 20 oral drops Supermint oil (peppermint oil). A standard questionnaire was filled after the colonoscopy for satisfaction of the patient and colonoscopist group. Data were analyzed using SPSS version 11.5 (T-test and Corraletion).   Results: Two percents in control group and 54.9% in case group have a great degree of satisfaction. Besides, degrees of satisfaction in case group was 64.7% that significantly difference with those of control group (2%)