Score-based diagnostic approach to celiac disease and bone mineral density.

BACKGROUND: The aim of this study was to assess the performance of a score-based diagnostic approach (SBDA) proposed in the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) 2012 guideline, and the usefulness of bone mineral density (BMD) measurement in SBDA as an objective finding in the diagnosis of celiac disease (CD). METHODS: The SBDA scores of 153 biopsy-proven celiac diagnosed children (derived from symptomatology, serology, human leukocyte antigen [HLA] analysis, histology) were calculated. Additionally, BMD Z scores obtained at diagnosis were also investigated. The diagnostic sensitivity of SBDA was tested in different scenarios in which low BMD was scored as a diagnostic finding. RESULTS: The mean age of children was 9.48 ± 3.59 years and 54.2% were female. All patients scored ≥4, which is the minimum score to diagnose CD in SBDA. Mean BMD Z score in 142 of 153 patients was -2.70 ± 1.16, and 73.9% of them were below -2. Moreover, different diagnostic scenarios without histology were tested. In one of them, BMD and HLA were not included and the sensitivity was 85.2%. In another one, low BMD was scored as an equivalent of malabsorption, HLA was not included and sensitivity was 97.2%. The sensitivities of these scenarios were significantly different (P = 0.001). CONCLUSION: In the absence of both HLA and histology, accepting low BMD as an equivalent of malabsorption drastically increased the diagnostic sensitivity, while SBDA had limited success. Therefore, BMD might be useful when HLA and biopsy are not available.

The effect of ventilation tube insertion to the health-related quality of life in a group of children in Southeast Anatolia.

OBJECTIVE: To demonstrate the influence of ventilation tube insertion to the quality of life in a group of children in Southeast Anatolia by Otitis Media 6-item (OM6) questionnaire. DESIGN: Patients who underwent ventilation tube insertion due to otitis media with effusion (OME) at Otorhinolaryngology Department of Gaziantep University between December 2016 and April 2017 were enrolled in this prospective study. All patients were evaluated with the OM-6 survey before operation and 6 weeks after surgery. RESULTS: The mean age of 45 patients out of 50 accounted for 67.64 ± 42.89 months with 27 (60%) males and 18 (40%) females. The numbers of preoperative and postoperative overall OM6 scores represented a significant improvement with 4.34 and 2.16, respectively. Moreover, each domain of OM6 (physical suffering, hearing loss, speech impairment, emotional distress, activity limitations and caregiver concerns) showed statistically significant difference. CONCLUSION: Ventilation tube insertion procedure provided a significant improvement in a group of children in Southeast Anatolia suffering from chronic OME in terms of Quality of Life (QOL) assessed by OM6. We believe that OM6 is a useful tool for evaluating the patients' health-related quality of life and for providing additional information to the caregivers' or families' enquiries regarding the consequences of surgical intervention.

Ruxolitinib treatment in an infant with JAK2+ polycythaemia vera-associated Budd-Chiari syndrome.

Budd-Chiari syndrome (BCS) is caused by hepatic venous outflow obstruction commonly seen with myeloproliferative neoplasms (MPNs). Polycythaemia vera (PV) is a very rare MPN in childhood. This is the youngest reported patient diagnosed with PV and BCS secondary to JAK V617F mutation.A 26-month-old girl was admitted with a 5-month history of abdominal distension, hepatosplenomegaly and ascites. Imaging studies revealed occlusion of the right hepatic vein and marked attenuation of the middle and left hepatic veins. BCS was diagnosed after excluding other causes of chronic liver disease. Mandatory prothrombotic workup revealed underlying PV.Partial recanalisation of hepatic veins occurred following anticoagulation therapy and PV was well controlled by pegylated interferon and hydroxycarbamide until she developed nephrotic syndrome, likely secondary to pegylated interferon. Therefore, treatment was modified to ruxolitinib, a novel-JAK-2 inhibitor; the therapy has been effective for almost 20 months with a good response and has no side effects.

Prevalence and characteristics of coronary artery anomalies in children with congenital heart disease diagnosed with coronary angiography.

OBJECTIVE: Aim of the present study was to determine the prevalence of coronary artery anomalies in children with congenital heart disease. METHODS: Data of 1138 consecutive patients who were referred for cardiac catheterization and angiography for assessment of coronary anomaly between January 2005 and December 2009 were retrospectively analyzed. Total of 515 patients whose coronary arteries could be examined through left ventricle and aortic root injection were included in the study. RESULTS: Of 515 angiograms with visible coronaries, 42 patients (20 males, 22 females; mean age: 5.3±2.0 years) were found to have final diagnosis of coronary anomaly. Prevalence of coronary artery anomalies was 8.16% in this study. It was determined that 38 (90.4%) were anomalies of origination, 2 (4.8%) were anomalies of intrinsic coronary arterial anatomy, and 2 (4.8%) were anomalies of coronary termination. Most common coronary artery abnormality was anomalous origin of the right coronary artery from the left aortic sinus (16 patients; 38.1%), and the most common congenital heart disease was tetralogy of Fallot (18 patients; 42.9%). CONCLUSION: Recognizing variability of coronary artery anomalies is critical when considering surgical or interventional therapies in children with congenital heart disease.