Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With Inflammatory Bowel Disease: A Multicenter Study.

BACKGROUND: The aim of the study was to evaluate familial Mediterranean fever (FMF) mutation analysis in pediatric patients with inflammatory bowel disease (IBD). The relation between MEFV mutations and chronic inflammatory diseases has been reported previously. METHODS: Children with IBD (334 ulcerative colitis (UC), 224 Crohn's disease (CD), 39 indeterminate colitis (IC)) were tested for FMF mutations in this multicenter study. The distribution of mutations according to disease type, histopathological findings, and disease activity indexes was determined. RESULTS: A total of 597 children (mean age: 10.8 ± 4.6 years, M/F: 1.05) with IBD were included in the study. In this study, 41.9% of the patients had FMF mutations. E148Q was the most common mutation in UC and CD, and M694V in IC (30.5%, 34.5%, 47.1%, respectively). There was a significant difference in terms of endoscopic and histopathological findings according to mutation types (homozygous/ heterozygous) in patients with UC (P < .05). There was a statistically significant difference between colonoscopy findings in patients with or without mutations (P = .031, P = .045, respectively). The patients with UC who had mutations had lower Pediatric Ulcerative Colitis Activity Index (PUCAI) scores than the patients without mutations (P = .007). CONCLUSION: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease.

Validity and reliability analysis of the Turkish version of pediatric nutritional risk score scale.

BACKGROUND/AIMS: We aimed to perform the validity and reliability analysis of the Turkish version of the Pediatric Nutritional Risk Score (PNRS). MATERIALS AND METHODS: The study group consisted of 149 patients aged between 1 month and 18 years who were admitted to the hospital for at least 48 h. The patients' age, gender, anthropometric measurements, length of stay, admission diagnosis, daily body weights, food consumption, and pain status were recorded. Backward and forward translations into Turkish were done. PNRS was performed by two different physicians. The consistency of the PNRS results was evaluated to determine the validity of PNRS. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated. RESULTS: Of all patients, 69 (46.3%) were female and 80 (53.7%) were male. The mean length of the stay was 7.3±4.0 days. The mean age of the patients was 51.9±63.6 months. The Kappa coefficient between the two physicians was 0.66. Weight loss was observed in 65.2% of the patients in the high-risk group and 25.4% in the low-risk group. The hospital malnutrition rate was 31.5%. A higher risk was identified in those with <50% food intake and more severe disease. The specificity, sensitivity, NPV, and PPV of PNRS were 82.1%, 77.8%, 92.0%, and 58.3%, respectively. CONCLUSION: A good consistency suggests that the Turkish validation was achieved successfully. The power of PNRS to discriminate the patients with moderate-low risk of developing malnutrition is higher than the patients with high risk. PNRS is considered a valid and reliable tool to establish the risk of malnutrition in the hospitalized patients.

Association of Celiac Disease With Idiopathic Pulmonary Hemosiderosis; Lane Hamilton Syndrome.

INTRODUCTION: Idiopathic Pulmonary Hemosiderosis (IPH) is a rare cause of alveolar hemorrhage, which is seen primarily in childhood. Celiac disease is defined as a chronic, immune-mediated enteropathy of the small intestine, caused by exposure to dietary gluten in genetically pre-disposed individuals. Association of IPH and celiac disease is known as Lane Hamilton syndrome. There are limited number of case reports of this syndrome in literature. CASE PRESENTATION: Although there were no growth and developmental delay and gastrointestinal symptoms like chronic diarrhea, chronic constipation, vomiting, abdominal bloating and pain in the two patients with IPH, they were diagnosed with Lane Hamilton Syndrome. After initiation of gluten-free diet, their IPH symptoms disappeared and hemoglobin levels were observed to return to normal. CONCLUSIONS: Even if there were no gastrointestinal symptoms in a patient with IPH, celiac disease should be investigated. These patients may benefit from gluten free diet and IPH symptoms may disappear.

Can neonatal hepatitis be more fatal than biliary atresia?

BACKGROUND/AIMS: The basic problem in diagnosis of neonatal cholestasis (NC) is to differentiate biliary atresia (BA) from other non-obstructive disorders. Because if bile flow cannot be provided by surgery, BA leads to cirrhosis and death within the first year of life. The aim of the present study is to determine histopathological features that may help to differentiate BA from neonatal hepatitis (NH). MATERIAL AND METHODS: This retrospective study was carried out on 105 liver biopsy specimens of 74 infants with NC who were diagnosed between 2003 and 2012. RESULTS: The mean age was 76.5 ± 40.64 days. The most valuable biopsy findings for the discrimination between NH and BA, in decreasing order of importance, were ductular proliferation (p < 0.001), cholestasis in neoductuli (p < 0.001), fibrosis (p = 0.002), and extramedullar hematopoiesis (p = 0.02). While Kasai operations were performed in 19 cases, liver transplantation was performed in 10 cases. Survival rate among the death cases with BA was longer than the survival time of the death cases with NH (p = 0.023). Currently more children live with a close to normal quality of life with portoenterostomy and/or liver transplantation. On the contrary, NH can be more fatal with associated disorders such as growth retardation, specific infections, respiratory distress, and metabolic or endocrine diseases.

Nutritional status of children with chronic hepatitis B in a population with low socioeconomic status.

OBJECTIVE: Chronic infections and liver diseases may lead to malnutrition. However, growth failure is rarely reported in chronic hepatitis B. We aimed to establish the nutritional status of children with chronic hepatitis B and the relation between anthropometric data and laboratory findings in a population with low socioeconomic status. METHODS: Anthropometrical and laboratory findings were noted from the hospital records. Cases with and without malnutrition were compared with regard to sex, age, histological activity (HAI) scores, aspartate aminotransferase, alanine aminotransferase, gamma-glutamyl transpeptidase, protein, albumin, and hepatitis B virus (HBV) DNA levels. RESULTS: Eighty children, of which 36 (45%) were girls, with a mean age of 11.5+/-3.2 years were enrolled in the study. Malnutrition was found in 39 (49%). Acute malnutrition (24 out of 39, 61.5%) was the most common form. There was no difference of age or sex between children with and without malnutrition. Age of diagnosis was higher and duration of follow-up was shorter in cases with malnutrition (P = 0.051 and P = 0.016, respectively). In children with malnutrition, aspartate aminotransferase levels were significantly higher but other laboratory results were not different. Malnutrition rate was not different between groups that did and did not receive treatment or that did and did not respond to treatment. Anthropometrical data and malnutrition rate was similar in children with high and low HAI scores. CONCLUSION: As features suggesting severe liver disease like high alanine aminotransferase values, HAI scores, or HBV DNA levels were not different in children with and without malnutrition, it may be proposed that chronic HBV infection does not have an effect on nutritional status.