Essential thrombocythemia with Mpl W515 K mutation in a child presenting with Budd-Chiari syndrome

WOS: 000369892400016PubMed ID: 25970554Essential thrombocythemia (ET) is an extremely rare childhood disorder characterised by clonal expansion of megakaryocytic lineage in bone marrow, leading to a persistent increase in the number of circulating thrombocytes and thus increased risk for thrombotic and haemorrhagic events. The molecular mechanisms of ET are not fully understood. Most children with ET have the JAK2 V617F somatic mutation; however, another mutation, involving a W to L or K substitution at Mpl codon 515, was reported in a small proportion of adult ET patients that is extremely rare in children. Herein, we describe a Mpl W515K somatic mutation in a paediatric case of ET who presented with Budd-Chiari syndrome. No paediatric patient harbouring a Mpl W515K mutation has been previously reported

Spontaneous Retroperitoneal Haematoma due to Polyarteritis Nodosa: Report of a Case and Literature Review

Retroperitoneal haematoma is a rare clinical entity with variable etiology. It can happen spontaneously, without any obvious precipitating factors, the so-called spontaneous retroperitoneal haematoma. There is no general consensus as to the best management plan for patients with retroperitoneal haematoma. Polyarteritis nodosa (PAN) is a rare cause of retroperitoneal haematoma. Here we report relationship between PAN and retroperitoneal haematoma and treatment approaches. However, an accepted and clearly defined treatment has not been established due to its rarity

The Effect of Enteral Nutrition Support Rich in TGF-β in the Treatment of Inflammatory Bowel Disease in Childhood

Background and Objective: Malnutrition is a major complication of inflammatory bowel disease (IBD). Our aim of the study was to examine the effects of Modulen IBD supplementation, which was administered to IBD patients without limiting their daily diet in addition to medical treatment, on the clinical, laboratory, anthropometric values, and disease activities of these patients. Materials and Methods: Seventy three children with IBD were evaluated retrospectively. The cases were classified as those who had Crohn disease receiving (CD-M; n = 16) or not receiving Modulen IBD (CD; n = 19) and those who had ulcerative colitis receiving (UC-M; n = 13) or not receiving Modulen IBD (UC; n = 25). Disease activities, laboratory values, remission rates, and anthropometric measurements of the groups were compared. In addition to IBD treatment, Modulen IBD in which half of the daily calorie requirement was provided was given for eight weeks. Results: In the third month of treatment, 14 (88%) patients were in remission in CD-M group and eight (42%) patients were in remission in CD group. The height and weight z scores, which were low at the time of diagnosis, improved in the first week in CD-M group. Inflammatory parameters (UC) were significantly lower in the UC-M group compared to the UC group in first and third months. In the third month, eight (62%) patients in the UC-M group and four (16%) in the UC group were remitted clinically and in terms of laboratory values. Conclusions: TGF-β-rich enteral nutrition support in children with IBD is an easy, effective, and reliable approach. It was shown that TGF-β-rich enteral nutritional supplementation enabled the disease to enter the remission earlier, and contributed to the early recovery of weight and height scores

Comparison of standard and standard plus vitamin E therapy for Helicobacter pylori eradications in children

WOS: 000353553700019PubMed ID: 25910378Background/Aims: Although various drugs can be used in adults for Helicobacter pylori eradication in adults, treatment options are limited in children. The aim of this study was to compare the effects of the standard lansoprazole, amoxicillin, and clarithromycin (LAC) protocol to those of LAC + vitamin E (LACE) combination for H. pylori eradication. Materials and Methods: The study included 90 children (age range: 10-17 years) who were admitted to four pediatric gastroenterology centers between March 2011 and November 2012 with dyspeptic symptoms and who had tested positive for H. pylori by 14C-urea breath tests. The patients were randomized into two groups. The LAC group [45 patients (pts)] was treated with a standard regimen consisting of lansoprazole (1 mg/kg/day), amoxicillin (50 mg/kg/day), and clarithromycin (14 mg/kg/day), each of which was given in two equally divided doses every 12 h for 14 days; the LACE group (45 pts) was given the standard regimen and vitamin E at 200 IU/day for 14 days. H. pylori eradication was assessed using the 14C-UBT in the 6th week after the cessation of treatment. Results: H. pylori was eradicated in 21 (46.6%) pts in the LAC group, while it was eradicated in 29 (64.4%) pts in the LACE group. There was no statistical difference between the two groups (p=0.13). Conclusion: The eradication rate of H. pylori in children while using the LAC regimen has decreased in the last years. The LACE regimen has been associated with an increased eradication rate but can reach to statistically significance. Further studies with larger cohorts are needed to examine the success of the LACE regimen for H. pylori eradication

Ursodeoxycholic acid treatment for duodenogastric reflux in childhood

Objective: The purpose of this study was to determine the clinical and histopathological features of duodenogastric reflux (DGR) in children and the effectiveness of ursodeoxycholic acid (UDCA) therapy. Design: Prospective Setting: Cukurova University Medical Faculty Pediatric Gastroenterology Clinic and Necmettin Erbakan University Medical Faculty Pediatric Gastroenterology Clinic, Adana and Konya, Turkey Subjects: One hundred and four children Intervention: One hundred and four patients with DGR were assessed in terms of their history, physical examination, endoscopy, histopathology and response to UDCA therapy. Main outcome measure: Positive results were obtained by administering UDCA treatment in addition to stomach drugs. Results: Eighty-two (79%) patients had previously used various antacids and proton pump inhibitors for dyspeptic symptoms. Gastritis was detected with upper gastrointestinal system endoscopy in all patients. Symptoms decreased by more than half or resolved completely in 97 patients (93%) at the 3-month follow-up interval. Conclusion: DGR should be considered in the etiology of patients with dyspeptic symptoms who fail to respond to antacid and proton pump inhibitor therapy. The majority of patients with DGR responded well to three months of UDCA therapy

Late-onset graft-versus-host disease after pediatric living-related liver transplantation for Langerhans cell histiocytosis

WOS: 000294170200001PubMed ID: 21884342GVHD is the most common and well-known cause of morbidity and mortality following allogeneic BM transplantation. The GVHD following OLT is an uncommon complication but has a high mortality and poses a major diagnostic and therapeutic challenge. We herein discussed a 12-month-old girl with multi-system LCH, who developed end-stage liver disease despite intensive chemotherapy. She underwent ABO-compatible liver transplantation at 28 months while in remission from LCH. The donor was her 26-yr-old father. Post-operative course was uneventful. The GVHD manifested with skin rash and BM supression on post-transplant day 94 and confirmed by both microchimerism and skin biopsy. Prednisolone, basiliximab, and ATG were administered immediately but the bone marow suppression was not improved and the patient died because of Candida sepsis at six-month post-transplant. GVHD after OLT should be keep in mind in patients with rash and BM suppression after liver transplantation. In LDLT, a patient who carries risk factors should investigated for optimal HLA matching

Peptic ulcer disease in children: An uncommon disorder with subtle symptomatology

WOS: 000317376400007PubMed ID: 23794302Background/aims: Data concerning peptic and infectious ulcers in children are limited. The aim of the study was to investigate the prevalence, presenting symptoms and significance of symptomatology in ulcer diagnosis in the pediatric age group. Materials and Methods: Between January 2000 and 2009, upper gastrointestinal endoscopy charts were examined retrospectively. All children in whom a diagnosis of ulcer was established were included in the study. Demographic, clinical, endoscopic, and histopathologic data were obtained from the patients' records. Peptic ulcer disease prevalence, presenting symptoms and symptomatology were evaluated. Results: Ulcer disease was observed in 31 (3.4%) of 902 patients. The mean age was 10.85 +/- 4.25 (range: 2-17 years), and the male to female ratio was 2:1. The most common symptom was chronic abdominal pain (68%), hematemesis and melena (55%) and vomiting (39%). Helicobacter pylori was identified in 19 patients (61%) with ulcer. In the Helicobacter pylori-positive group, upper intestinal bleeding and pain were the major symptoms. Symptom frequency was not different between Helicobacter pylori-positive and -negative patients (p>0.05). Conclusions: Ulcer disease is an uncommon disorder in children with nonspecific clinical symptoms. Unlike the adult population, symptoms fail to diagnose peptic ulcer disease before gastrointestinal bleeding occurs

Helicobacter pylori infection in children with celiac disease

WOS: 000258589500010PubMed ID: 18609161Objective. To analyze the prevalence of Helicobacter pylori (H. pylori) infection in children with celiac disease (CD) and to examine the role of H. pylori infection in clinical, laboratory and histopathological presentations of CD. Material and methods. Data on 96 children with CD and 235 children who underwent endoscopy were compared for the prevalence and gastric histology pattern of H. pylori. Clinical presentation, laboratory and histological findings of CD children with and without H. pylori infection were compared. Results. Twenty-one subjects (21.8%) in the CD group and 56 subjects (23.8%) in the control group had H. pylori gastritis. Gastric metaplasia is higher in CD patients with H. pylori gastritis (19%) than in patients without H. pylori gastritis (1.3%) and in the control group (3.5%) (p0.05 for all groups). Abdominal distension is more common at initial admission in CD patients with H. pylori gastritis (57.1% versus 14.6%, p0.05). No significant difference was found between H. pylori (+) and (-) CD patients in terms of prevalence of anemia, iron deficiency and iron-deficiency anemia. Only mild duodenal histological findings were more common in H. pylori patients (57.1% versus 26.7%, p < 0.05). Conclusions. CD may be associated with H. pylori gastritis, but it does not affect the clinical presentation of the disease, except for abdominal distension; CD is associated with mild duodenal lesions. A gluten-free diet improves the symptoms in all patients independently of the presence of H. pylori gastritis. Gastric metaplasia increases in the presence of H. pylori gastritis. Further prospective studies are needed to examine the clinical and histopathological outcomes of gastric metaplasia associated with H. pylori gastritis in CD patients

Chronic constipation in Turkish children: clinical findings and applicability of classification criteria

WOS: 000266291500009PubMed ID: 19480326We aimed to evaluate general features of children with chronic constipation and classified them according to the Iowa criteria and Rome II criteria in order to analyze applicability of these criteria in our population. The medical records of 485 children who were referred for chronic constipation over a six- year period were evaluated retrospectively. We found that 7.7% of the cases had an organic pathology, and short segment Hirschsprung disease was the leading cause. Other children (92.3%) were classified as functional constipation, with a mean age of 6.4 +/- 4 years and with slight male dominance. Encopresis was found in 117 children (51.7%) aged over four years, and was associated with older age, male predominance and long duration of symptoms. Both of the classification systems showed a similar prevalence of constipation, but 9.9% of the children with pediatric constipation were not recognized by Rome II criteria. Additionally, 1.8% of the children were not recognized by either Iowa or Rome criteria. Functional constipation is common in primary care, and most of the children were school-aged. Constipation associated with encopresis and nutritional problems such as obesity is less common in developing countries. Rome II criteria are too restrictive and do not recognize approximately 12% of the children. A new classification system must be simple, easy to understand especially by the primary care physician, and must include the common features of constipation recognized by the parents