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.

Early and late neurological complications of liver transplantation in pediatric patients.

NCs occur commonly after solid organ transplantation and affect 15%-30% of liver transplant recipients. The aim of this retrospective study was to evaluate the type and incidence of neurologic events in pediatric patients following LT. Between May 2006 and June 2015, 242 patients (118 females, 124 males) requiring LT for different etiologies at the Inönü University Liver Transplantation Institute were included. The incidence, types, and risk factors of NCs that occurred following LT were evaluated retrospectively. Neurologic events occurred in 57 (23.5%) of the patients. Early NCs were encephalopathy (12.4%), seizures (11.5%), and PRES (7%). Of 57 patients, five (8.7%) experienced NCs at least 1 month after LT; these late NCs included tremor, headaches, encephalopathy, ataxia, and neuropathy. The psychiatric symptoms after LT were noted in 42 patients (17.4%). The mortality rate after LT in those with or without neurological events was not significantly different (P=.73). There was a high incidence of serious neurologic events after LT. The major neurologic manifestation in our patients was encephalopathy followed by seizures.

Strain and strain rate echocardiography in children with Wilson's disease.

OBJECTIVE: This study aimed to evaluate strain and strain rate echocardiography in children with Wilson's disease to detect early cardiac dysfunction. METHODS: In this study, 21 patients with Wilson's disease and a control group of 20 age- and gender-matched healthy children were included. All the patients and the control group were evaluated with two-dimensional (2D) and colour-coded conventional transthoracic echocardiography by the same paediatric cardiologist using the same echocardiography machine (Vivid E9, GE Healthcare, Norway) in standard precordial positions, according to the American Society of Echocardiography recommendations. 2D strain and strain rate echocardiography were performed after the ECG probes of the echocardiography machine were adjusted for ECG monitoring. Longitudinal, transverse and radial strain, and strain rate were assessed from six basal and six mid-ventricular segments of the left ventricle, as recommended by the American Society of Echocardiography. RESULTS: Left ventricular wall thickness, systolic and diastolic diameters, left ventricular diameters normalised to body surface area, end-systolic and end-diastolic volumes, cardiac output and cardiac index values were within normal limits and statistically similar in the patient and control groups (p > 0.05). Global strain and strain rate: the patient group had a statistically significant lower peak A longitudinal velocity of the left basal point and peak E longitudinal velocity of the left basal (VAbasR) point, and higher global peak A longitudinal/circumferential strain rate (GSRa) compared to the corresponding values of the control group (p < 0.05). Radial strain and strain rate: end-systolic rotation [ROT (ES)] was statistically significantly lower in the patient group (p < 0.05). Longitudinal strain and strain rate: end-systolic longitudinal strain [SLSC (ES)] and positive peak transverse strain (STSR peak P) were statistically significantly lower in the patient group (p < 0.05). Segmental analysis showed that rotational strain measurement of the anterior and lateral segments of the patient group were statistically significantly lower than the corresponding values of the control group (p < 0.05). Segmental analysis showed statistically significantly lower values of endsystolic longitudinal strain [STSR (ES)] of the basal lateral (p < 0.05) and end-systolic longitudinal strain [SLSC (ES)] of the basal septal segment (p < 0.05) in the patient group. End-systolic longitudinal strain [SLSC (ES)] and positive peak transverse strain (STSR peak P) were statistically significantly lower in the patient group (p < 0.05). Segmental analysis showed statistically significantly lower values of endsystolic longitudinal strain [SLSC (ES)] of the mid-anterior and basal anterior segments (p < 0.05), end-systolic longitudinal strain [STSR (ES)] measurements of the posterior and mid-posterior segments, end-systolic longitudinal displacement [DLDC (ES)] of the basal posterior, mid-posterior and mid-antero-septal segments in the patient group. CONCLUSION: Cardiac arrhythmias, cardiomyopathy and sudden cardiac death are rare complications but may be seen in children with Wilson's disease due to copper accumulation in the heart tissue. Strain and strain rate echocardiography is a relatively new and useful echocardiographic technique to evaluate cardiac function and cardiac deformation abnormalities. Our study showed that despite normal systolic function, patients with Wilson's disease showed diastolic dysfunction and regional deformation abnormalities, especially rotational strain and strain rate abnormalities.

Evaluation of renal functions in pediatric liver transplantation.

AKI is an important complication after LT. As our LT series contains a quite high number of children with ALF unlike published studies, we aimed to determine pre-LT and long-term renal functions in children both with ALF and with CLD. Demographic and disease-related data of 134 transplanted children were evaluated retrospectively. Pre-LT and follow-up GFR and pediatric RIFLE scores were determined. Mean pre-LT GFR was not dependent on the disease presentation or severity of chronic disease. While there was an initial decline until first week of post-LT in CLD children, an increase was observed in ALF. Neither mean GFR nor the pRIFLE on follow-up was different with respect to the type of LT or disease presentation. Mean GFR at first and sixth months were lower in children on cyclosporine compared to tacrolimus (p = 0.001 and p = 0.002, respectively). In conclusion, GFR-time curve was different in children with or without ALF. Type of LT, and severity of the CLD were not risk factors for CKD in any time, but younger age at LT, CLD, and cyclosporine usage were at sixth months of follow-up.

The hematologic manifestations of pediatric celiac disease at the time of diagnosis and efficiency of gluten-free diet.

BACKGROUND/AIM: To determine the hematologic manifestations at the time of diagnosis of celiac disease in children and the effects of a gluten-free diet on hematologic signs upon follow-up. MATERIALS AND METHODS: The records ofpatients with celiac disease who received a follow up examination at the Pediatric Gastroenterology Clinic between June 2006 and June 2013 were retrospectively examined. RESULTS: Ninety-one patients were included in the study. The mean age at diagnosis was 8.1 ± 4.21 years and 59 patients (64.8%) were female. Thirty-two patients (35.2%) had hematologic signs at the time of diagnosis. Anemia (24.2%) was the most common hematologic sign, followed by thrombocytosis (16.5%) and leukopenia (4.4%). The tTG IgA titers were screened in 80 of the 91 patients during diagnosis. Follow-up examinations found that remission for anemia (P = 0.0 17), thrombocytosis (P = 0.039), and decreases in tTG IgA titers (P = 0.034) were more prominent in patients who had followed a strict gluten-free diet. CONCLUSION: Approximately one-third of the celiac disease patients had hematologic manifestations at the time of diagnosis. Remission in hematologic signs and decrease in tTG IgA titers were more prominent in patients who had adhered to a gluten-free diet.

Acquired atopic disease after liver transplantation in children; similarities to and differences from adults: a preliminary study.

OBJECTIVE: The aim of this study was to determine the similarities and differences in the frequency and follow-ups of newly diagnosed atopic diseases after liver transplantation in pediatric and adult patients. MATERIALS AND METHODS: Patients who underwent liver transplants between 2005 and 2013 and who are still alive were enrolled in the study. Patients who came for checkups filled out a survey evaluating atopic diseases. Those who had an atopic disease before transplantation were excluded from the study. RESULTS: A total of 165 patients were enrolled in this study; 114 (69.1%) were males and 29 (17.6%) were children. The average transplantation age was 40.8 (0.3-67) years, and the most frequent reason for transplantation was chronic viral hepatitis. In 22 patients, atopic diseases [allergic rhinitis in nine patients (5.5%), asthma in six patients (3.9%), atopic eczema in six patients (3.9%), food allergy in six patients (3.9%), and drug allergy in one patient (0.6%)] developed after transplantation. Atopic diseases after transplantation were more common in children (P=0.03). When the atopic diseases were examined on a case-by-case basis, there were no differences between children and adults with respect to asthma (P=0.284), allergic rhinitis (P=1.0), or atopic eczema (P=0.284), but food allergy (P=0.009) and peripheral eosinophilia (P=0.002) were more common in children. The periodicity of allergic diseases after transplantation (P=0.192) and total IgE levels (P=0.086) were similar. CONCLUSION: Atopic diseases developed after liver transplantation and had a greater impact on children than adults. Therefore, after undergoing liver transplantation, patients should be monitored closely for signs of atopic diseases.

Virulence factors and antibiotic resistance in children with Helicobacter pylori gastritis.

OBJECTIVES: There are limited data regarding the pattern of Helicobacter pylori (Hp) antibiotic resistance and virulence factors in children. Evaluation of prevalence of drug resistance and virulence-factor genotype in children with Hp gastritis and to investigate whether there is any relation between drug resistance and genotype were our aims in this study. METHODS: Ninety-eight children with polymerase chain reaction-positive Hp gastritis were included. Antimicrobial susceptibility was tested by disc diffusion method and polymerase chain reaction assays were used for the determination of virulence factors. RESULTS: The resistance rates to clarithromycin, metronidazole, and amoxicillin were 23.5%, 11.7%, and 3.9%, respectively. All strains carried vacA genotype, and 51%, 70.4%, 49%, 34.7%, and 25.5% were cagA-, cagE-, babA2-, iceA1-, and iceA2-positive, respectively. Of those 98 specimens, 81.6%, 19.4%, 38.8%, and 63.3% carried vacAs1, vacAs2, vacAm1, and vacAm2, respectively. Dominant vacA type was s1am2 (32.7%), followed by s1am1 (14.3%) and s2m2 (12.2%). Significant rates of clarithromycin resistance were observed in cagE-, iceA1-, babA2-, and vacAs1c-positive groups. In those with metronidazole resistance, vacAs1 and vacAs1c were more common (P < 0.05). CONCLUSIONS: The cagE-positive and vacA s1a/m2 genotypes, which are correlated with increased antibiotic resistance, were predominant in our population. In countries where Hp infection is prevalent, studies focusing on virulence factors and antibiotic susceptibility may provide anticipation of the prognosis and may be helpful to reduce morbidity and mortality.

Correlation of clinical, endoscopic, and histological findings with virulence factors in children with Helicobacter pylori gastritis.

BACKGROUND AND GOALS: As there are limited data regarding the correlation between virulence factors and clinical, endoscopic, and histological findings in children with Helicobacter pylori gastritis, we aimed to evaluate that probable relationship in pediatric cases. STUDY: One hundred and fifty-nine children with chronic abdominal pain or dyspepsia were included in this study. Upper gastrointestinal endoscopy was performed and multiple biopsy samples were taken from the esophagus, the antrum, and the duodenum. PCR was used for the determination of virulence factors. RESULTS: According to PCR analysis, 98 (61.6%) children were positive for H. pylori. Using histopathological examination and culture, H. pylori was detected in 65 (40.9%) and 51 (32.1%) children, respectively. Peptic ulcer prevalence and histopathological features were not different among cagA, cagE, or iceA1 positive and negative groups (P>0.05). Peptic ulcer prevalence and histopathological findings were more common in iceA2-positive patients (P<0.05). Antral nodularity was more common in cagA-positive patients (P<0.05). Endoscopic and histological features were not different among patients with or without m1 or m2 strains (P>0.05). S1b positivity was associated with a higher esophagitis rate (P<0.05). CONCLUSION: Among virulence factors, iceA2 was associated with peptic ulcer and milder histopathological findings, and vacAs1 was associated with milder histopathological findings.

Report of seven children with hepatopulmonary syndrome.

Hepatopulmonary syndrome is an important pulmonary vascular complication of liver disease. Its diagnosis is based on the presence of hypoxaemia and the demonstration of intrapulmonary shunting by contrast-enhanced echocardiography or perfusion lung scanning. Awareness of this condition is critical to improve the outcomes of patients with chronic liver disease and/or portal hypertension because hepatopulmonary syndrome receives additional priority on the waiting list for transplantation. A non-invasive measurement of the blood oxygen saturation with pulse oximetry is recommended as a screening tool for this syndrome. The aim of this report was to present clinical and laboratory findings and follow-up of seven paediatric patients who were diagnosed with HPS at our centre.

Craniofacial features of children with celiac disease.

BACKGROUND AND GOALS: Growth retardation is one of the most important signs of childhood celiac disease (CD); however, it is not very well known whether craniofacial growth is also affected. We aimed to carry out a detailed craniofacial morphological study to derive a conclusion on the craniofacial features of children with CD. PARTICIPANTS AND METHODS: Eighty-four 2-16-year-old children with biopsy-proven CD and 84 age-matched and sex-matched healthy children were included. Of these, 37 children (44.0%) had been newly diagnosed and 47 (56.0%) were on a gluten-free diet. Anteroposterior and lateral photographs were evaluated using the Scion Image software program for the measurements of the distances between reference points on the face. RESULTS: Except for nasofrontal angle (nfa), nasolabial angle (nla), pronasale height (prnh), nasal dorsum height (ndh), and nasal radix height (nrh), all measurements were significantly greater in patients compared with controls. In celiac children, all facial proportions except forehead/face height (t-gl/t-gn) and nose length/face height (n-ns/t-gn) were significantly different from those of controls. Except for nla, prnh, ndh, nrh, t-gl/t-gn, face height to total face height ratio (sn-gn/t-gn), n-sn/t-gn, ear length to face height ratio (s-sba/t-gn), and face width to face height ratio (z-z/t-gn), all measurements were statistically different in those on a gluten-free diet and newly diagnosed children. CONCLUSION: Most of the facial measurements and proportions of celiac children were different from those of controls. Our data confirm those of a previous study reporting that the forehead proportion is not altered in childhood CD. Pathophysiological mechanisms underlying these alterations are not clear but disruptions of growth during certain critical periods may be responsible.

Subclinical diastolic dysfunction in children with Wilson's disease assessed by tissue Doppler echocardiography: a possible early predictor of cardiac involvement.

BACKGROUND: The aim of this study was to evaluate the left ventricular systolic and diastolic functions and cardiac rhythm problems for the early detection of myocardial dysfunction in children with Wilson's disease. METHODS: We compared patients who had Wilson's disease (n = 22) witl Wilson's disease was based on clinical symptoms and laboratory tests (serum ce cardiographic examination, as well as pulsed-wave Doppler, tissue Doppler ech Holter monitoring was also performed in all subjects. RESULTS: All patients were asymptomatic on cardiological examination an tion, fractional shortening, wall thickness and left ventricular mass were similar disease had significantly lower mitral E velocity, mitral E/A ratio (P= 0.046, P= 0.0 as estimated by pulsed wave Doppler echocardiography. Wilson patients had lo pler echocardiography (P=0.006) compared to the controls. On 24-hour ECG cardiac arrhythmia. CONCLUSION: Our study showed results that might be consistent with disease children which probably represents an early stage of cardiac involvem the patients.

Single-center analysis of the first 304 living-donor liver transplantations in 3 years.

BACKGROUND/AIMS: Living donor liver transplantations (LDLT) is a definitive treatment for patients with end-stage liver disease (ESLD), especially in the countries with donation problem. Between April 2007 and April 2010, we performed LDLT in 289 patients. Fifteen of the cases required re-transplantations. This study evaluates these 304 consecutive LDLTs donor and recipient outcomes. METHODOLOGY: Complication rates and survival data of the recipients and donors of 304 LDLT cases were analyzed. RESULTS: All donors are alive and well. Overall complication rate was 27%. Early postoperative recipient complication rate was 51%. Most frequent complication was infection. In the long-term there were 57 biliary stricture and 5 chronic bile fistula cases. Chronic and acute rejection attacks developed in 7 and 103 patients, respectively. Hepatic artery thrombosis rate was 8%. One, two and three year survival rates were 82%, 79% and 75%, respectively. Recipient mortality was 25%, mostly due to vascular complications, septic complications, liver dysfunction and chronic rejection. CONCLUSIONS: More than 150 liver tranplantations per year in a single center is a challenge in Turkey, where there is a shortage of deceased donor grafts. LDLT is a safe procedure for donors and effective for ESLD. Improvement in surgical technique would provide better outcomes.

The role of fecal calprotectin and lactoferrin in the diagnosis of necrotizing enterocolitis.

BACKGROUND: Early detection of necrotizing enterocolitis can improve the prognosis, however, there is not a reliable laboratory test to detect either newborns at risk for necrotizing enterocolitis development or those at early stages of the disease. Since fecal lactoferrin and fecal calprotectin are inflammatory markers of gastrointestinal diseases, it was hypothesized that both these biomarkers could be successfully used in the diagnosis of necrotizing enterocolitis. METHODS: In a prospective study, fecal lactoferrin and fecal calprotectin concentrations of 14 newborns with necrotizing enterocolitis and consecutively admitted 40 healthy preterm, and 23 healthy full-term newborns were measured with enzyme-linked immunosorbent assay technique. RESULTS: Mean fecal lactoferrin and fecal calprotectin were not different between preterm and full-term newborns (p = .235 and p = .845, respectively), or those who were diagnosed with necrotizing enterocolitis or not (p = .545 and p = .968, respectively). Prevalence of necrotizing enterocolitis was 1.51% (14 of 2734). Stage of the disease did not have a statistical effect on mean levels (p = .694 and p = .267, respectively). Mean fecal lactoferrin and fecal calprotectin levels were not different in the case of breastfeeding (p = .623 and p = .792, respectively). CONCLUSION: Neither fecal lactoferrin nor fecal calprotectin has a role in the identification of necrotizing enterocolitis, especially in early stages of the disease. Further studies on wider necrotizing enterocolitis series are needed for a more definite conclusion.

Atypical presentations of celiac disease.

Celiac disease (CD) has a wide variety of clinical presentations; together with the "classical form", in which the intestinal symptomatology is prevalent, there are "atypical forms" with predominating extra-intestinal clinical features, and the "silent form", with no clinical symptom. The "atypical forms" of the disease are characterized by few or no gastrointestinal symptoms, and predominating extra-intestinal features such as neurologic, dermatologic, hematologic, endocrinologic, reproductive, renal, psychiatric, skeletal, and liver involvement(s). Silent presentation of CD may be identified through screening of high-risk groups. Today, it is well known that CD might account for several chronic health issues, so it is essential for healthcare professionals to have a high level of suspicion for the atypical presentations of CD.

Hand grip and pinch strength in patients with nocturnal enuresis: is there a role of muscle strength in pathogenesis of enuresis?

AIMS: To examine the association of muscle strength with nocturnal enuresis. SUBJECTS AND METHODS: One hundred sixty-three patients with monosymptomatic nocturnal enuresis (8-14 years old) were recruited from outpatient clinics. Two hundred eight healthy students served as the control group (8-14 years old) from two primary schools. Physical examinations and the age, gender, height, weight, dominant hand, and body mass of these children index were recorded. A calibrated, Jamar dynamometer was used to assess grip strength at the first two settings. A pinch gauge was used to assess the key pinch of the right and left hands of these children. Two measurements of each grip and pinch were obtained at 15 sec intervals and mean values were analyzed. RESULTS: The hand grip strength test and pinch was significantly lower in the enuretic group compared with the control group. These low results of the muscle strength in the enuretic group showed that whole body muscle weakness may contribute to the pathogenesis of enuresis as a possible etiological factor. CONCLUSIONS: In this first study on the association of muscle strength with nocturnal enuresis, it was found that neuromuscular function is abnormal in enuretic patients. In this neuromuscular abnormality, the motor activity is affected.

Treatment results of chronic hepatitis B in children: a retrospective study.

In this retrospective study, we aimed to share our experience with different treatment modalities for chronic hepatitis B in a series of children. The study included 126 children (mean: 9.5 +/- 3.8 years). Normalization of alanine aminotransferase (ALT), loss of hepatitis B virus (HBV)-DNA and hepatitis B e antigen (HBeAg), and development of antibody to HBeAg (anti-HBe) altogether at the end of the treatment was considered as end of therapy response (ETR). Seroconversion ongoing one year after the cessation of therapy was considered as sustained response. Of the total children, 90 (71.4%) were treated, whereas the remaining were just followed-up. High-dose interferon (IFN)-alpha (10 MU/m2) alone, standard-dose IFN-alpha (6 MU/m2) plus lamivudine (4 mg/kg/d), high-dose IFN-alpha plus lamivudine, or lamivudine alone was used, IFN-alpha thrice weekly for six months, and lamivudine daily for one year. Of children who had completed their treatment, 34 (37.8%) achieved ETR. Sustained response rate was 36.7%. Response rates were different in the different treatment groups (p: 0.01). The highest response rate was observed in those who received standard-dose IFN-alpha plus lamivudine treatment (61.5%). Of children without treatment, one (2.8%) had anti-HBe seroconversion. Standard-dose IFN-alpha plus lamivudine treatment was found superior to the other treatment modalities. Predictors of ETR were similar to those found in previous studies.

The etiology of severe neonatal hyperbilirubinemia and complications of exchange transfusion.

Exchange transfusion (ECT) has an important role in preventing kernicterus in the treatment of indirect hyperbilirubinemia of the newborn. In present study, the etiology of hyperbilirubinemia and complications of ECT were studied over a five-year period in the Eastern Mediterranean region of Turkey. We describe our experience of 89 ECTs performed from 2003-2008 in 79 newborns with hyperbilirubinemia. The mean gestational age was 37 +/- 2.1 weeks and the mean of peak total bilirubin levels was 28.1 +/- 6.4 mg/dl. The most common cause of hyperbilirubinemia was ABO isoimmunization (38%). Complications of ECT developed in 17 neonates (21.5%), the most common being thrombocytopenia and seizure. None of newborns died secondary to ECT. Our data showed higher morbidity rates associated with ECT in the treatment of hyperbilirubinemia in our region. In order to prevent adverse effects of ECT, serum bilirubin levels should be closely monitored in newborns with ABO immunization.