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.

The role of plasma exchange in acute liver failure of autoimmune etiology.

BACKGROUND: Autoimmune hepatitis (AIH) is characterized by increased immunoglobulin G (IgG) levels, the presence of autoantibodies, and various degrees of lymphocyte predominant inflammation and fibrosis histologically. Immunosuppressive therapy induces remission in approximately 80% of those affected. However, liver transplantation is indicated in patients with acute liver failure with encephalopathy at presentation. Liver supporting systems, including plasma exchange (PE) allow bridging patients to transplantation or spontaneous recovery in the setting of liver failure. The role of these systems has not been assessed in children with liver failure of autoimmune etiology. CASE: Herein, we report three cases of AIH with fulminant presentation, with marked symptom resolution with PE as an adjunct therapeutic option to immunosuppressive treatment. CONCLUSION: In the setting of AIH, PE may have a special therapeutic role by removing autoantibodies and cytokines, therefore preventing further liver damage and decompensation, and allowing time for recovery.

Successful treatment of pediatric post-liver transplant Kaposi`s sarcoma with paclitaxel.

BACKGROUND: Kaposi`s sarcoma (KS) is a complication of immunosuppressive therapy for transplant recipients. Unlike adult recipients, KS in pediatric organ transplantation is quite rare. Treatment is usually withdrawal of immunosuppression; non-responders often receive chemotherapy. CASE: We have reported a child with post-liver transplant visceral KS which has progressed despite withdrawal of immunosuppressive therapy, who has been treated with Paclitaxel for three weeks. KS has regressed completely after four cycles of Paclitaxel. CONCLUSION: Paclitaxel should be considered as an effective first line treatment option for patients with posttransplant KS.

Evaluation of 563 children with chronic cough accompanied by a new clinical algorithm.

BACKGROUND: This study aims to evaluate the children with chronic cough and to analyze their etiological factors according to the age groups. METHOD: Five hundred sixty-three children with chronic cough were included. The last diagnosis were established and were also emphasized according to the age groups. RESULTS: The mean age was 5.4 ± 3.8 years (2-months-17-years) and 52 % of them were male. The most common final diagnosis from all the participants were: asthma (24.9 %), asthma-like symptoms (19 %), protracted bacterial bronchitis (PBB) (11.9 %), and upper airway cough syndrome (9.1 %). However, psychogenic cough was the second most common diagnosis in the subjects over 6 years of age. CONCLUSION: Asthma and asthma-like symptoms were the most common diagnosis in children. Different age groups in children may have a different order of frequencies. Psychogenic cough should be thought of in the common causes especially in older children.

Rare causes of gastrointestinal hemorrhage in infancy.

Gastrointestinal hemorrhage in children is a critical condition that demands quick and effective management. The differential diagnosis of gastrointestinal hemorrhage is wide. Heterotopic pancreas is a rare congenital anomaly and usually discovered incidentally. It is generally asymptomatic, but symptoms may occur when complicated by inflammation, bleeding, obstruction or malign transformation. Heterotopic pancreas may present throughout the gastrointestinal tract, but it is most commonly found in the stomach, duodenum and proximal jejunum. Juvenile polyps are common during childhood and present most often with painless rectal hemorrhage. They remain the most common colonic polyps in children. Colonoscopic polypectomy is the most effective procedure in the treatment of juvenile polyps. In this study, we describe rare causes of gastrointestinal system hemorrhage in infancy and discuss some diagnostic and therapeutic approaches.

Investigation of cardiomyopathy in children with cirrhotic and noncirrhotic portal hypertension.

BACKGROUND: Cirrhotic cardiomyopathy (CCMP) is a functional disorder characterized by electrophysiological disturbances, and diastolic and/or systolic dysfunction in patients with liver disease. This disorder is a well-defined entity in adults, but pediatric data are limited. The aim of the study was to determine the incidence, features, and risk factors of CCMP in children with portal hypertension (PHT). METHODS: This study included 50 children with cirrhotic PHT (40/50) and noncirrhotic PHT (10/50). Fifty healthy children were also selected for the control group. Electrocardiography and echocardiography were used to evaluate cardiac functions. Corrected QT (QTc) ≥ 0.45 was accepted as prolonged on electrocardiography. The study group was divided into 3 groups: cirrhotic, noncirrhotic, and control. Then, the CCMP group was created according to the diagnostic criteria. Latent CCMP was diagnosed in the presence of prolonged-QTc along with a minor criterion (tachycardia). Manifest CCMP was diagnosed in the presence of at least 2 major criteria (prolonged-QTc along with abnormal echocardiographic findings). Moreover, in this study, the risk factors for CCMP were investigated. RESULTS: The CCMP group included 10 cases (20%). Nine of these cases had latent CCMP (18%), and the remaining one (2%) had manifest CCMP. All of the cases with CCMP had cirrhosis and ascites. None of the patients with CCMP had severe cardiac symptoms, but they were already using some cardioprotective drugs such as propanolol and spironolactone. As risk factors for CCMP, pediatric end-stage liver disease scores, Child-Pugh scores, and ascites grades were found to be significant for the determination of CCMP. The most important risk factor was ascites severity (P = 0.001, odds ratio 9.4). CONCLUSIONS: Approximately 20% of children with PHT have CCMP. A detailed cardiac examination should be carried out periodically in children with cirrhotic PHT, especially in the presence of ascites and high Child-Pugh score.

Changing face and clinical features of celiac disease in children.

BACKGROUND: The aim of this study was to analyze and compare the epidemiological and presenting features, clinical patterns, and complications of celiac disease (CD) in children. METHODS: The clinical charts of children with CD were retrospectively analyzed. Data for children who presented during the first time period (January 2005-October 2008; group 1) were compared to those of children who presented during the second time period (November 2008-April 2012; group 2). RESULTS: Group 1 and 2 consisted of 96 and 95 children, respectively. There were no differences in gender distribution, weight, or height z-scores between the two groups. Mean age at the time of diagnosis in group 2 (9.3 ± 4.5 years) was significantly higher than in group 1 (6.9 ± 3.9 years; P < 0.001). Non-classical presentation was more frequent in group 2 (P = 0.01). Associated disorders were observed in 49 children (25.7%) overall. There were significantly more children with type 1 diabetes mellitus in group 2 (P = 0.030). In all, 11 patients (5.8%) were overweight (either obese or at risk of obesity) at presentation. Isolated short stature was the presenting feature in 15 children (7.9%) overall, but was more frequently observed in group 2 (P = 0.003). In total, 15 patients (7.9%) presented with refractory iron deficiency anemia; the frequency was similar in both groups. Dual-energy X-ray absorptiometry was performed in 102 patients, and 82 (80.4%) had metabolic bone disease (MBD). CONCLUSION: The mode of presentation and clinical features of CD in childhood continue to change. Of note, a substantial percentage of patients were overweight at presentation. MBD is a frequent complication, necessitating routine evaluation.

A retrospective review of children with gallstone: single-center experience from Central Anatolia.

BACKGROUND/AIMS: To evaluate children with gallstone in respect to demographic features, type of presentation, predisposing risk factors, laboratory features, complications, and outcome. MATERIALS AND METHODS: Overall, 124 children with sonographically diagnosed gallstone were stratified into group 1 (symptomatic) and group 2 (asymptomatic). The data on demographic features, predisposing risk factors, laboratory features, complications, and outcome were collected from medical charts and compared by using convenient statistical methods. RESULTS: There were 76 (61%) children in group 1. Females were significantly older than males at the time of diagnosis (p=0.001). After adjusting for age and sex, asymptomatic presentation was associated with hemolytic anemia (r=346, <0.001) and being an oncologic patient (r=248, p=0.006). No risk factor was specifically associated with having a symptomatic presentation. Sixteen children (12.9%) developed complications: 14 (18.4%) in group 1 and 2 (4.2%) in group 2 (p=0.027). Gallstone resolution was detected in 20 (29.4%) and 10 children (23.3%) in groups 1 and 2, respectively (p=0.477). Resolution was observed in 43.8% of children with ceftriaxone-associated gallstone. The rate of resolution with ursodeoxycholic acid (UDCA) was similar to that observed with expectant management. Gallstone resolution was evident in 9 infants (50.0%) and was significantly higher than children over 2 years of age (21 out of 106 children, 19.8%) (p=0.006). The most important factor associated with gallstone resolution was to be an infant (<2 years of age) at the time of diagnosis (OR: 3.1; 95% CI: 1.1-8.8; p=0.034). CONCLUSION: Ceftriaxone-associated gallstones are most likely to resolve but do not always undergo spontaneous resolution. UDCA treatment seems to be ineffective. Young age is a favorable factor for gallstone resolution. The rate of complications in children with asymptomatic presentation is considerably low. Thus, clinical follow-up rather than surgical intervention is suggested in children with asymptomatic presentation and in infants.

Serum paraoxonase activity and oxidative stress and their relationship with obesity-related metabolic syndrome and non-alcoholic fatty liver disease in obese children and adolescents.

OBJECTIVE: Oxidative stress has been reported to be involved in the pathogenesis of metabolic disorders related with obesity. The aim of the study was to investigate the association of oxidative stress and paraoxonase activities with non-alcoholic fatty liver disease (NAFLD) as well as metabolic syndrome. MATERIALS AND METHODS: A total of 109 obese children and adolescents and 44 healthy and lean control subjects were enrolled in the study. According to their ultrasonographic steatosis scores, they were classified into four groups as follows: healthy children; obese, non-NAFLD; obese, grade I-NAFLD; and obese, grade II-III NAFLD. The biochemical parameters and insulin resistance (HOMA-IR) were evaluated from fasting samples. The plasma total antioxidant status (TAS), total oxidant status (TOS), and serum paraoxonase activities were measured and then oxidative stress index (OSI) was calculated as the indicator of degree of oxidative stress. RESULTS: As the steatosis increased, the alanine aminotransferase, C-reactive protein, HOMA-IR, total cholesterol, and LDL cholesterol increased, whereas HDL cholesterol decreased. The TAS measurements were higher in the obese NAFLD group compared with that of the healthy control group. The TOS and OSI measurements did not differ between the groups. Paraoxonase activities increased significantly as steatosis increased. CONCLUSIONS: Among the children in this study, no relationship could be demonstrated between obesity with/without steatosis and oxidant/antioxidant status.

Thyroid hormone levels in obese children and adolescents with non-alcoholic fatty liver disease.

OBJECTIVE: We aimed to determine the association of thyroid functions with the components of metabolic syndrome (MS) and non-alcoholic fatty liver disease (NAFLD) in pediatric obese patients. METHODS: The study included 109 obese children (aged 9-15 years) and a control group of 44 healthy age and gender-matched children of normal weight. NAFLD was diagnosed by conventional ultrasound examination. We assessed the anthropometric data and serum biochemical parameters including lipid profile, alanine aminotransferase (ALT), fasting glucose and insulin levels and thyroid stimulating hormone (TSH), free thyroxine (fT4) and free triiodothyronine (fT3) levels. The homeostasis model assessment of insulin resistance (HOMA-IR) was calculated as a measure of IR. RESULTS: The mean age and gender distributions in the groups were similar (p=0.23). The mean body mass index (BMI) z-scores of obese children with grade 2-3 NAFLD were significantly higher than those of the obese children without hepatic steatosis (p<0.001). Mean ALT, triglyceride (TG) and LDL cholesterol increased and HDL-cholesterol significantly decreased as the hepatic steatosis increased (p<0.05). HOMA-IR levels in obese subjects with grade 2-3 NAFLD were significantly higher than those in both obese children without NAFLD and grade 1 NADFL (p=0.05 and 0.001, respectively). In the obese subjects, TSH levels were increased significantly as the degree of steatosis increased (p=0.04) but fT3 and fT4 levels were not different. In correlation analysis, TSH was significantly correlated with ALT, BMI SDS and the degree of steatosis. CONCLUSIONS: Obese children demonstrate an increase in TSH levels as the degree of steatosis increased.

Carotid intima-media thickness and flow-mediated dilation in obese children with non-alcoholic fatty liver disease.

BACKGROUND/AIMS: This study aimed to understand the role of non-alcoholic fatty liver disease (NAFLD) in increasing the risk of atherosclerosis in obese pediatric patients. MATERIALS AND METHODS: The study included 109 obese children (age, 9-15 years) and a control group comprising 44 healthy age- and gender-matched children with normal weight. NAFLD was diagnosed using conventional ultrasound (US) examination. Both right carotid intima-media thickness (CIMT) and flow-mediated dilation (FMD) were assessed in addition to anthropometric measures and serum biochemical parameters, including lipid profile and fasting glucose and insulin levels. Homeostatic model assessment of insulin resistance (HOMA-IR) was calculated as a measure of insulin resistance. RESULTS: Mean age and gender distributions were similar in the obese children and control group (p=0.168 and p=0.705, respectively). Median body mass index standard deviation scores of obese children with grade II-III NAFLD were significantly higher than those of obese children without hepatosteatosis (p<0.001). Median total cholesterol levels were similar in all the groups (p=0.263). Low-density lipoprotein cholesterol and triglyceride levels increased and high-density lipoprotein cholesterol levels decreased significantly as the grade of steatosis increased (p<0.001, p<0.05, and p=0.05, respectively). Median alanine aminotransaminase (ALT) and HOMA-IR levels of obese children with grade II-III NAFLD were significantly higher than those of obese children without NAFLD (p=0.01) and obese children with grade I NAFLD (p=0.001). CIMT was significantly correlated with the grade of steatosis (p<0.001) and level of ALT (p=0.005). Linear regression analysis showed that the grade of hepatosteatosis had a significant effect on CIMT. FMD decreased as the grade of hepatosteatosis increased, but it did not reach a significant level. CONCLUSION: The obese children with hepatosteatosis showed increased CIMT, as indicated by the grade of steatosis, compared with healthy controls and obese children without hepatosteatosis. FMD was not superior to CIMT in predicting the risk of early atherosclerosis.

Psychosocial status and quality of life in mothers of infants with colic.

We aimed to measure the psychosocial status and quality of life in mothers of babies with infantile colic (IC). Mothers and their newborns were stratified into Group 1 (colicky infant-mother dyad [n: 39]) and Group 2 (non-colicky infant-mother dyad [n: 39]). Maternal symptoms of depression and anxiety were assessed using the Beck Depression Inventory (BDI) and State-Trait Anxiety Inventory (STAI), respectively. The Short Form-36 (SF36) was used to measure quality of life. Mean BDI score in Group 1 (14.7 ± 12.9) was significantly higher than in Group 2 (7.7 ± 5.5) (p=0.020). Mothers in Group 1 had lower Short Form- 36 physical functioning (26.6 ± 4.3 vs. 28.7 ± 2.6; p=0.010) and social functioning (7.4 ± 2.5 vs. 8.9 ± 3.2, p=0.024) domain scores. Infantile colic (IC) was associated with higher maternal depression symptom scores and lower quality of life scores. As such, we think that mothers who have babies with IC should be closely monitored.