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Von Willebrand disease (vWD) is the most common inherited bleeding disorder. The biggest challenge in the management of vWD is the difficulty in performing surgical procedures because of bleeding. Treatment guidelines recommend the use of pure von Willebrand factor or von Willebrand factor/factor VIII (vWF/FVIII) concentrate in patients with type 2 or type 3 vWD undergoing surgery, in patients with type 1 vWD undergoing surgery who are unresponsive, and in patients for whom desmopressin acetate is contraindicated. However, there is no consensus on the dosage and optimum levels of these factors to date. The aim of this study was to evaluate the perioperative management of patients with vWD during surgical procedures. Data pertaining to surgical procedures performed at our center from 2003 to 2014 were analyzed retrospectively. All operations, except one appendectomy, were elective, and a plan for the management of hemostasis was prepared for each patient. During this period, 37 surgical procedures (major, minor, and dental) were performed in 23 patients with vWD. Complications occurred in four out of 37 procedures (10.8%). No deaths or life-threatening bleeding occurred during any of the operations and no thromboembolic events were observed. The results from this retrospective study indicate that surgery can be safely performed by providing adequate and timely hemostasis during and after the procedure in patients with vWD. Perioperative and postoperative bleeding complications are rare when patients are closely and carefully monitored.

Introduction: People with haemophilia (PwH) with inhibitors have an increased risk of bleeding and early development of progressive arthropathy. Radiosynovectomy (RS) has been effective in dramatically reducing the frequency of haemarthroses. In the present study, the mid-and long-term results of the efficacy of RS in PwHs with inhibitors and prognostic factors that influence success and failure of RS were presented. Material and Method: Radiosynovectomy was performed in 51 joints of 22 PwHs with inhibitors diagnosed with chronic haemophilic synovitis between January 2000 and December 2018. Two patients were lost to follow-up and four joints were excluded. Number of bleeding episodes within the pre-and post-treatment 6 months were documented. Treatment failure was defined as need for repeat RS injection. Results: Results of 47 RS were analysed. The mean bleeding frequency of the joints was 11.2 ± 6.2 (median 9) within the last 6 months in the pre-treatment evaluation. After the treatment, the mean bleeding frequency of the joints decreased to 1.2 ± 2.8 (median 0) for first 6 months (P < .0001). The cumulative survival rate at 12 months was 87% and 78% at 36 months. The receiver operating characteristic (ROC) curve analysis revealed that cutoff points of 12 bleeding episodes within the last 6 months (sensitivity, 71.4; specificity, 81.8 P = .0022) and an inhibitor titre of 63.4 BU (sensitivity, 57.1; specificity, 75.8; P = .31) were threshold levels for a predisposition for failure. Conclusion: Radiosynovectomy is an effective and safe intervention in PwHs with inhibitors. Bleeding frequency is a prognostic marker for the success of RS treatment. Patients who have more than 12 bleeding episodes within the last 6 months before the RS treatment have a higher rate of failure.

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Objective: Increased risk of unfavorable cardiovascular risk factors has been recognised in ageing patients with haemophilia (PwH), but needs further studies in younger patients. The purpose of this study was to assess obesity, hypertension (HT), metabolic variables, insulin resistance and metabolic syndrome in young PwH. Methods: Forty-eight haemophilia A and B patients and 35 age and sex matched healthy controls were included in the study. Anthropometric measurements, blood pressure (BP), fasting glucose and insulin levels, serum lipids and diet were evaluated. The metabolic syndrome was defined according to the criteria of the International Diabetes Federation for pediatric and adult age groups. Results: The mean age of PwH was 21±9 years (range, 6-40 years). Of those ≥18 years, 46% were were obese/overweight while there were no obese/overweight cases in the <18 year-old patients. Obesity was more prevalent in PwH with arthropathy (p=0.017). Seven percent of the PwH between 10 and 18 years-old and 25% of those ≥18 years had metabolic syndrome. There was no difference in metabolic syndrome frequency between PwH and controls >10 years-old (19.5% vs 10% respectively, p=0.34). Fifty percent of the PwH ≥18 years-old had elevated BP or HT. Fasting blood glucose levels of PwH were significantly higher compared to controls (p=0.02). Conclusion: Our study showed that obesity, HT and metabolic syndrome are frequent problems, especially in PwH with arthropathy. Early prevention and management of overweight, obesity and their sequelae must be addressed in clinical practice in order to maximize the overall health of the haemophilia population.

Introduction: The development of inhibitors against factors VIII/IX is the most serious complication in hemophilia. The best treatment strategy for inhibitor eradication is immune tolerance induction (ITI). The aim of this study was to evaluate patients treated with low-dose ITI at a single center with limited resources. Materials and Methods: In total, 29 (8.05%) of 360 hemophilia A patients exhibited inhibitors. The data from hemophilia patients with inhibitors undergoing ITI between 1999 and 2017 were collected and analyzed. Results: Seventeen ITIs administered to 15 hemophilia A patients with inhibitors were analyzed, and the data from 13 ITIs conducted in 12 patients were evaluated. The median age at ITI onset was 10 years (range: 1.25 to 52 y). The maximum inhibitor titer before ITI was 30 Bethesda Units (BU) (range: 4.48 to 135), and the median inhibitor titer was 1.25 BU (range: 0 to 5.6) at the onset of ITI. The median time interval between the inhibitor development and ITI onset was 60 months (range: 7 to 264 mo). The median inhibitor titer during ITI was 3.4 BU (range: 0 to 158.7). At the end of the treatment, 4 of the 12 patients (33.3%) exhibited a complete response, 4 (33.3%) had partial responses (with continuing ITI), and 4 (33.3%) exhibited ITI failure. Conclusions: Treatment of hemophilia patients with inhibitors is challenging, and ITI is the best treatment method; however, a high-dose daily ITI regimen cannot be given to every patient in every country due to its high cost. Our results show that low-dose ITI may be a choice for selected patients with inhibitors.

Bilateral congenital cystic adrenal neuroblastoma (NB) with cystic liver metastasis is a very rare condition and only few cases have been reported in the literature. Herein we report a case of a congenital bilateral cystic adrenal NB with cystic liver metastasis and briefly discuss characteristic imaging features of cystic NB. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. CASE REPORTA 3-month-old baby presented to clinic with marked abdominal distention. His medical history was insignificant. Laboratory findings were within normal limits except for mildly elevated serum transaminases (AST: 54 IU/L, ALT: 45 IU/L) and neuron-specific enolase (NSE: 21.9 ng/ml). An abdominal ultrasound (US) was performed. US revealed 10x10x12cm heterogeneous cystic mass in the right suprarenal region, which was displacing the right kidney downward. US scan also showed a 2x2x2cm anechoic cystic mass in the left adrenal gland. Borders between the right lobe of the liver and lesion were indistinguishable. Multiple anechoic cystic lesions up to 10mm were detected in the right and the left lobes of the liver. Intravenous contrast enhanced magnetic resonance imaging (MRI) was performed for further evaluation of the lesions to avoid the ionizing radiation of computed tomography (CT) scan. MRI revealed that both lesions were cystic in nature and thick walls of the lesion were enhanced with contrast. No solid components were detected in lesions. Calcifications were noted in the inferior-posterior part of the right-sided suprarenal mass. Lesions in the liver also showed no contrast enhancement on MRI (Fig.1). Cystic nature of the lesion, mildly increased NSE and presence of multiple cystic lesions in the liver, were supporting the diagnosis of congenital bilateral adrenal NB with cystic liver metastasis. Bone marrow aspiration was negative for tumor cells and a probable diagnosis of neuroblastoma was made. In the following days, the patient started to develop a significant shortness of breath due to rapidly growing abdominal masses (NSE also increased) and underwent operation. During the operation, the right-sided lesion was dissected carefully from the surface of the liver and the right kidney. Then both lesions in the adrenal gland were completely excised. Aspiration was performed from one of the cystic lesions in the liver for histopathologic examination. The pathology specimen revealed stroma poor, poorly differentiated cystic NB with 10 fold N-myc amplification, which is favoring bad prognosis according to

Pineoblastoma (PB) is a rare embryonal tumor of the pineal gland. 1 Histologically, PB are classified as WHO grade IV tumors. 2,3 While they typically appear radiographically as focal enhancing mass, PB can also be locally invasive and spread outside the pineal region through the subarachnoid space. 4 In this study, we assessed the demographics, treatment, late effects and outcome of PB patients who were diagnosed and treated in the Istanbul University Oncology Institute (IUOI) during 1990-2012. Material and MethodsDuring 1990-2012, 516 children with brain tumors were diagnosed and treated in the IUOI. Among these patients six (1.16 %) were diagnosed with PB. Demographics, age of diagnosis, first complaint, tumor region, diagnosis type, seeding metastasis to the spinal axis or cerebrospinal fluid (CSF), treatment and survival of these patients were evaluated retrospectively from patient records. All patients had cranial and spinal axis MRI with contrast at diagnosis and during follow-up.