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 Effects of Synbiotic "Bifidobacterium lactis B94 plus Inulin" Addition on Standard Triple Therapy of Helicobacter pylori Eradication in Children.

AIM: The aim of this study is to evaluate the effects of the synbiotic Bifidobacterium lactis B94 plus inulin addition to the standard triple therapy on Helicobacter pylori (H. pylori) infection eradication rates. METHODS: Children aged 6-16 years who had biopsy proven H. pylori infection were randomly classified into two groups. The first group received the standard triple therapy consisting of amoxicillin + clarithromycin + omeprazole. The second group was treated with the standard triple therapy and Bifidobacterium lactis B94 (5 × 109 CFU/dose) plus inulin (900 mg) for 14 days, concurrently. Eradication was determined by 14C-urea breath test 4-6 weeks after therapy discontinuation. RESULTS: From a total of 69 H. pylori infected children (F/M = 36/33; mean ± SD = 11.2 ± 3.0 years), eradication was achieved in 20/34 participants in the standard therapy group and 27/35 participants in the synbiotic group. The eradication rates were not significantly different between the standard therapy and the synbiotic groups [intent-to-treat, 58.8% and 77.1%, resp., p = 0.16; per-protocol, 64.5% and 81.8%, resp., p = 0.19]. There was no difference between the groups in terms of symptom relief (p = 0.193). The reported side effects were ignorable. CONCLUSION: Considering the eradication rates, synbiotic addition to therapy showed no superiority over the standard triple therapy conducted alone. This trial is registered with NCT03165253.

Mesalamine Intolerance in Three Children with Crohn's Disease.

OBJECTIVE: To present the mesalamine-induced acute exacerbation of symptoms and inflammatory markers in children with Crohn's disease (CD). CLINICAL PRESENTATION AND INTERVENTION: Three children who presented with CD had acute exacerbation of colitis symptoms or elevated inflammatory markers when mesalamine was added to treatment while tapering/ceasing steroid treatment. While on steroid treatment, the patients maintained clinical and laboratory remission, but with the initiation of mesalamine treatment, they had abdominal pain and bloody mucoid diarrhoea and/or elevation of white blood cell count, C-reactive protein level and erythrocyte sedimentation rate. Bacterial pathogens were excluded from the urine, throat and blood cultures, parasites with stool examination, viral pathogens with serology. Within 3-7 days after the mesalamine treatment had been stopped, the patients showed improvement of colitis symptoms and normalisation of white blood cell count, C-reactive protein level and erythrocyte sedimentation rate. CONCLUSION: In this study mesalamine mimicked CD relapse in children with CD while tapering or after stopping steroid treatment. Awareness of this side effect of mesalamine could prevent a misdiagnosis of steroid dependency.

Subclinical cardiac dysfunction in children with coeliac disease: is the gluten-free diet effective?

Objectives. The aim of this study is to investigate the effects of coeliac disease on cardiac function in children using conventional transthoracic echocardiography (TTE) and tissue Doppler echocardiography (TDE). Methods. Coeliac disease patients were evaluated in two different groups based on serum endomysial antibody (EmA) titers (EmA (+) and EmA (-)), and the data obtained by conventional and TDE studies were compared between the patient groups and healthy controls. Results. There was no significant difference between EmA (+) and EmA (-) groups in terms of the conventional TTE parameters, including ejection fraction (EF), fractional shortening (FS), and left ventricle end diastolic diameter (LVEDD), that show the left ventricular systolic function (P = 0.727, P = 0.317, P = 0.118). TDE showed a significant difference in left ventricle (LV) isovolumic relaxation time (LV IVRT) and LV myocardial performance index (LV MPI) parameters between EmA (+) and EmA (-) patient groups (P < 0.0001). Conclusion. The measurement of LV MPI and LV IVRT parameters by TDE would be beneficial in early determination of the cardiac involvement and establishing appropriate treatment and followup of patients with coeliac disease as well as in making distinction between EmA (+) and EmA (-) patients.

An infant with severe refractory Crohn's disease and homozygous MEFV mutation who dramatically responded to colchicine.

Previous studies have suggested that inflammatory bowel disease is particulary frequent and severe in familial Mediterranean fever (FMF) families. An 8-month-old boy was admitted to our hospital with chronic bloody diarrhea, failure to thrive and high-grade fever. He was diagnosed as Crohn's disease (CD) based on clinical, laboratory and histological findings and, corticosteroid therapy was started. The patient did not respond to intensive medical therapy including intravenous corticosteroid, mesalazine, azathioprine, intravenous cyclosporine and enteral feeding. MEFV gene mutation analysis revealed homozygous M694V mutation. In addition to azathioprine and cyclosporine therapy, with the diagnosis of FMF, colchicine therapy was started and partial remission was observed within 2 weeks. To the best of our knowledge, this is the first report of association of CD and FMF in an infant. In cases of CD resistant to medical therapy, possibility of underlying FMF should be considered, especially in countries where FMF is prevalent.

Angiodysplasia as a cause of severe hematochezia in a child with end-stage renal failure.

Angiodysplasia is a frequent cause of gastrointestinal bleeding in adults with chronic renal failure (CRF); however, there is no data about this association in children. The mechanism of this association is not known. We report a 4.5-year-old boy with CRF presenting with hematochezia due to colonic angiodysplasia. He was on hemodialysis for the previous 9 months. Treatment with argon plasma coagulation (APC) was commenced following a short course of octreotide therapy. During the 3 years of follow-up, no occult or gross bleeding occurred. This case illustrates that octreotide and APC therapy seems to be useful for arresting bleeding from angiodysplasia and prevention of recurrent bleeding in children with CRF.

Can partially hydrolyzed guar gum be an alternative to lactulose in treatment of childhood constipation?

BACKGROUND/AIMS: In the present study, we aimed to investigate if partially hydrolyzed guar gum (PHGG) can be used safely as a fiber source for treatment of constipation in children and to compare its success with the most commonly used osmotic laxative, lactulose. METHODS: A randomized prospective controlled study on 61 patients (partially hydrolyzed guar gum group, n: 31; lactulose group, n: 30) was performed. Patients were given lactulose or partially hydrolyzed guar gum for four weeks. Using a standardized bowel diary, defecation frequency, stool consistency, and presence of flatulence and abdominal pain were recorded. Family questionnaires about the success, safety and side effect profile of both treatment arms were also obtained. RESULTS: No significant differences were found in the baseline daily fiber (fruits and vegetables) intake between the two groups. Bowel movement frequency per week and stool consistency improved significantly in both treatment groups (p<0.05). The percent of children with abdominal pain and stool withholding also decreased eminently in both groups (p<0.05). Weekly defecation frequency increased from 4±0.7 to 6±1.06 and from 4±0.7 to 5±1.7 in the lactulose and partially hydrolyzed guar gum treated groups, respectively (p<0.05). According to the family questionnaire, the parents complained of bad taste, flatulence and necessity to ingest a high amount of drug in the lactulose treatment group. In the partially hydrolyzed guar gum treatment group, parents were satisfied with the defecation frequency of their children. CONCLUSIONS: Treatment with partially hydrolyzed guar gum is as effective as lactulose treatment in relieving stool withholding and constipation-associated abdominal pain, and its use improves stool consistency. Lactulose seemed to have more side effects, including flatulence and sensation of bad taste.

The effect of treatment with montelukast on levels of serum interleukin-10, eosinophil cationic protein, blood eosinophil counts, and clinical parameters in children with asthma.

Interleukin (IL)-10 is an important immunoregulatory and anti-inflammatory cytokine. IL-10 levels are reduced in asthmatic airways. A regulatory mechanism involving IL-4 induced allergen-specific IL-10 production may be defective in allergic subjects, and this defect potentially contributes to more intense inflammation. The aim of this study was to define the effect of treatment with montelukast on serum levels of IL-10, eosinophil cationic protein (ECP), blood eosinophil counts, and clinical parameters (symptom score and lung function tests) in children with mild and moderate persistent asthma. Twenty-five children with mild-to-moderate persistent asthma and 25 nonatopic healthy children as controls were enrolled in the study. Patients were treated with montelukast for four weeks. Lung function tests for forced expiratory volume in 1 second (FEV1), peak expiratory flow (PEF), and forced expiratory flow between 25% and 75% (FEF25-75) were performed before and after treatment. Serum IL-10, ECP levels, and blood eosinophil counts were determined in both the control group and asthmatic children before and after treatment. The mean serum IL-10 levels were significantly lower before treatment than after treatment (1.75 +/- 0.9 pg/ml and 5.49 +/- 3.6 pg/ml; p < 0.001) and in control subjects (5.6 +/- 2.8 pg/ml). After four weeks of treatment with montelukast, the mean blood eosinophil count value (608 +/- 73/mm3 and 469 +/- 57/mm3; p < 0.05) but not the ECP value (33.98 +/- 24.3 microg/L and 29.03 +/- 19.2 microg/L; p > 0.05) was significantly decreased. After treatment with montelukast, all clinical parameters and lung function tests improved. We found no statistical correlations between the serum level of IL-10 and the serum level of ECP, eosinophil count, lung function tests, or clinical scores after treatment with montelukast. Montelukast caused a statistically significant increase in serum IL-10 levels and decrease in peripheral blood eosinophil counts over the four-week treatment period. Our study indicates that montelukast provides clinical benefits for children with chronic asthma and produces an anti-inflammatory response by increasing serum IL-10 levels,

Acute tetraventricular hydrocephalus caused by mumps meningoencephalitis in a child.

Mumps is one of the common causes of childhood aseptic meningitis and encephalitis. Although central nervous system involvement is a common manifestation, hydrocephalus is a very rare complication of mumps, with just a few cases reported in the literature to date. Here we report on an 8-year-old boy with acute tetraventricular hydrocephalus caused by mumps meningoencephalitis and treated by external ventricular drainage and following ventriculoperitoneal shunt.

[Massive parapneumonic effusion caused by Mycoplasma pneumoniae in a child: a case report]. / Mycoplasma pneumoniae'ya bagli yogun parapnömonik efüzyonlu bir olgu sunumu.

Mycoplasma pneumoniae infection is usually mild course and self-limited. Parapneumonic effusion is not a common feature of M. pneumoniae. The treatment of parapneumonic effusion is macrolides and chest tube with adequate pleural drainage. We report here on a child with M. pneumoniae infection complicated by massive parapneumonic effusion. Protracted course of fever and respiratory distress was noted in patient. Pneumothorax was occurred subsequent to chest tube drainage.

A rapid lateral flow stool antigen immunoassay and (14)C-urea breath test for the diagnosis and eradication of Helicobacter pylori infection in children.

Our aim was to evaluate diagnostic accuracy of rapid immunochromatographic stool antigen test (Rapid HpSA; LINEAR Chemical, Barcelona, Spain) and a practical low-dose (14)C urea breath test (UBT) (Heliprobetrade mark) test before and after eradication therapy. One hundred nine children with abdominal symptoms (age range, 5-17 years; mean, 12.1) underwent endoscopy, (14)C-UBT, and Rapid HpSA. Patients were defined as Hp infected when histology was positive for Hp. Forty children (36.6%) were Hp infected. The sensitivity of Rapid HpSA and (14)C-UBT was 65% and 92.5% (P = 0.0003), respectively; the specificity of Rapid HpSA and (14)C-UBT was 92.3% and 85.5% (P = 0.180), respectively. After eradication therapy endoscopy, (14)C-UBT and Rapid HpSA were repeated. The eradication rate was 70.5%. After eradication, the sensitivity of Rapid HpSA and (14)C-UBT was 60% and 100%, respectively; the specificity of Rapid HpSA and (14)C-UBT was 100%. (14)C-UBT was more reliable than the Rapid HpSA test for the diagnosis and for confirming eradication of Hp infection.

Successful living-related liver transplantation in a child with familial yellow nail syndrome and fulminant hepatic failure: report of a case.

An 11-yr-old boy with familial YNS and FHF and who underwent LRLT is presented. LRLT was performed from his father with YNS. The findings of hepatic failure resolved immediately after LRLT, but severe respiratory complications and chylous ascites were observed during the follow-up. At 12 months after successful LT, the patient has good graft function, but findings of YNS including chronic cough, lymphedema and yellow nails are still present. To the best of our knowledge, this is the first case of YNS who underwent LRLT for FHF.

Asymptomatic Brucella bacteraemia and isolation of Brucella melitensis biovar 3 from human breast milk.

Brucellosis is a zoonotic disease and virtually all infections derived from exposure to animals or ingestion of unpasteurized dairy products. Brucellosis among family members has been reported. However, screening household members of an index case of acute brucellosis is not a routine procedure. A 10-y-old boy was diagnosed with acute brucellosis. Unpasteurized goat cheese commonly consumed within the family was thought to be the possible source of the bacteria. The family (parents, sister and brother) was screened with physical examination, serum tube agglutination test, blood cultures and routine laboratory tests. Three additional cases (parents and sister) of serological and culture proven brucellosis were detected. Two of them (mother and sister) were asymptomatic and had no clinical findings. Brucella melitensis biovar 3 was isolated from breast milk culture and from all blood cultures of 4 brucellosis cases. In conclusion, brucellosis, even with bacteraemia, can be completely asymptomatic. Consumption of raw milk products by household members is a common risk factor for brucellosis outbreak among family members. Thus, screening household members of an index case of brucellosis can expose new brucellosis cases.

Investigation of human colostrum Helicobacter pylori IgA content in lactating women.

OBJECTIVE: The objective was to investigate the colostral H. pylori-specific IgA content in a sample of the female population in Turkey where a high endemicity for H. pylori has always been reported. MATERIALS AND METHODS: One hundred and sixty-one pregnant women with positive serum H. pylori IgG antibody at the time of the last trimester were enrolled into the study. During the initial postpartum 24h, we obtained colostrum samples from each mother to test the presence and concentration of H. pylori-specific IgA. Breast milk antibody concentrations of H. pylori were measured by commercial ELISA tests. Sample absorbance/cut-off absorbance (s/c) ratio was used for semiquantitative interpretation. Ratios >1.1 were considered positive, ratios < or =1.1 negative. The statistical significance was tested by the Mann-Whitney U-test, and p < 0.05 was regarded as statistically significant. RESULTS: At least 2 ml of colostrum was obtained and analyzed (mean volume 2.5+/-0.45 ml). The results indicated the absence of H. pylori-specific IgA in 64 colostral samples (39.8%). However, the rest of the women (n = 97; 60.2%) had a mean H. pylori-specific IgA s/c ratio of 4.31+/-2.51 (range 1.2-10.3) in their colostral milk samples. The mean gestational age at the time of delivery was 38 weeks and 5 days, and the mean birth weight was 3, 224+/-433 g (range 4, 300-1, 940 g). Gestational age at birth and mode of delivery were not correlated with the colostral-specific IgA levels. CONCLUSIONS: Most of the lactating women (60.2%), who were seropositive for H. pylori, had some IgA in their colostral milk. Colostral milk theoretically can decrease H. pylori and perhaps many other enteric infections, whether or not it contains H. pylori-specific IgA. Therefore, breastfeeding is of utmost importance for neonates and should be encouraged. The H. pylori-specific IgA antibody concentration of colostral milk should be investigated in large-scale prospective studies for its effectiveness in the protection against neonatal transmission of this infection.

Serum leptin levels and their relationship to tumor necrosis factor-alpha and interleukin-6 in neonatal sepsis.

Circulating leptin concentrations are raised in animal models of inflammation and sepsis and leptin production is also increased in rodents by administration of endotoxin or cytokines. The purpose of this study was to investigate the effect of sepsis on serum leptin concentration and whether circulating leptin was related to tumor necrosis factor-alpha (TNF-alpha) and interleukin-6 (IL-6) release in newborn infants. Plasma leptin, TNF-alpha and IL-6 were measured in 20 neonates with culture-proven sepsis as soon as sepsis was diagnosed and after recovery and in 15 healthy control infants. There was no significant difference in plasma leptin levels between septic and control infants (p > 0.05); there was also no difference in plasma leptin levels in septic neonates before and after therapy (p > 0.05). No relationship between leptin and TNF-alpha (r = 0.16, p > 0.05) or IL-6 (r = 0.12, p > 0.05) was identified. These findings suggest that a major role of leptin in acute neonatal sepsis appears unlikely.