Sporadic Lateral Ventricular Hemangioblastoma presenting with Intraventricular and Subarachnoid Haemorrhage

Intraventricular hemangioblastoma (HB) is very rare; few cases of intraventricular HB have been reported in the literature, either sporadically or in association with von Hippel-Lindau disease. Furthermore, the incidence of ventricular haemorrhage from HB seems to be uncommon. We report a unique case of sporadic HB of the right lateral ventricle presenting with intratumoural and intraventricular haemorrhage in addition to multifocal intracranial superficial siderosis, indicating the presence of a subarachnoid haemorrhage (SAH) as well. Such a combination has not been reported before. In the future, the detection of an intraventricular mass in association with ventricular haemorrhage, with or without SAH, should include HB as a differential diagnosis, particularly when the imaging appearances are not typical of the more common intraventricular tumours

PB005 Treatment of DS-AML without HDARAC does not impact on disease outcome

Purpose: Disease related outcome for DS children with AML is higher than non-DS patients, but with more toxicity. Optimally intensive therapy for DS-AML needs to be determined.Method: We retrospectively reviewed the outcome of DS-AML at our institution between 2000 and 2009 treated on two different protocols; Group A utilized HDARAC post-induction and Group B was treated without HDARAC.Results: Twenty patients were treated; 10 patients in each group. There were 15 boys, and the median age was 27.7 months (mean 43.2+6.9; 8\u3c2 yrs, 9 2–4 years and3\u3e4 years). The clinical characteristics of patients in the two groups were similar (median age 29.5 v. 24.2 mo; mean WBC 27.5 v. 13.8 X 109/L; Hg 74.4 v. 80.1 g/L; plt54 v. 18 X109/L, p\u3e0.5 for all). Seven patients had M7 and 8 M2 subtype. Two had CSF positivity. Eight patients had congenital cardiac abnormalities and one dysplastic kidney. One patient in each Arm failed to achieve CR following 2 induction cycles, but both achieved CR following HDARAC. Six have relapsed (Group A¼3, GroupB¼3) at a median of 4.2 months from CR. 5-year OS is 80.4% and RFS is 67.7%. There was no difference in OS or RFS between the two groups (OS 78.8% v. 80%, p=0.7; RFS 70% v. 62.2%, p=0.9). No difference was found for induction-phase toxicity, however there was significantly more infectious toxicity with Group A postinduction (9 v. 3 patients, p=0.02). Specifically, 13 v. 1 episode of F/N (p=0.001), 4v. 0 invasive fungal infections (p=0.082), 3 v. 1 non-BS bacterial infections(p=0.12) and 4 v. 2 BS bacterial infections (p=0.6). Three patients in Group B developed subclinical reduction in cardiac function.Conclusion: Treatment of DS-AML is feasible without HD-ARAC for most DS-AML patients. HDARAC is associated with increase infectious toxicity without improving disease free survival

Does high dose cytosine arabinoside improves disease free survival for down syndrome acute myelocytic leukemia patients?

Acute myelocytic leukemia (AML) in Down Syndrome (DS) children is characterized by a young age of onset (\u3c 2 years), a low white blood cell count and high frequency of Megakaryocytic leukemia. DS children with AML have higher disease free survival (DFS) rates as compared to non DS AML patients. Previous studies have suggested that intensification chemotherapy may not be necessary for the treatment of DS children with AML. The objective of this study was to clarify the effectiveness and toxicities of using high dose Cytosine Arabinoside (HD AraC) intensification in the treatment of DS AML. Clinical data for children (\u3c14 years) with DS AML, diagnosed between September 2000 to May 2005, were retrieved from the hospital data base. Patients were divided into two groups; Group A patients received chemotherapy containing HD AraC, while Group B patients did not. A total of 15 patients were included, eight in Group A and seven in group B. The median age at diagnosis was 22 months (A=23 months, B=22 months). The two groups were matched regarding their clinical and laboratory parameters. There was no significant difference in DFS between groups A and B, 75% and 85% respectively (P = 0.82) at a mean observation period of 42.9 months for group A and 23.12 months for group B. The median time to relapse was 6 months for group A and 8 months for group B. The overall treatment related toxicity was higher in Group A patients but achieved only borderline significance (P = 0.06). However, when toxicity was assessed separately for induction and post induction phases of chemotherapy there were significantly more infectious events (17 v. 2; p=0.0006) in the post induction phase which includes HD AraC intensification in Group A. Even when only serious infections (bacteremia, fungal infection, sepsis) were included in the evaluation this difference persisted (7 v. 1; p=0.0339), with less toxicity for Group B patients. No such difference was noted between the two groups during induction chemotherapy. In conclusion the use of HD AraC in post-induction intensification phases for DS AML children does not improve DFS and is associated with more treatment related toxicity

Assessing the Performance of Extended Half-Life Coagulation Factor VIII, FC Fusion Protein by Using Chromogenic and One-Stage Assays in Saudi Hemophilia A Patients

Background. The one-stage assay is the most common method to measure factor VIII activity (FVIII : C) in hemophilia A patients. The chromogenic assay is another two-stage test involving purified coagulation factors followed by factor Xa-specific chromogenic substrate. Aim. This study aimed to assess the discrepancy and correlation between the chromogenic and one-stage assays in measuring FVIII : C levels in hemophilia patients receiving Extended Half-Life Elocta® as a recombinant extended half-life coagulation factor. Methods. We performed a study comparing the measurements of FVIII : C levels by the chromogenic versus the one-stage assays at different drug levels. Data of FVIII : C levels, dosage, and the time interval from administration to measurement were retrieved from the hospital records. The correlation, mean differences, and discrepancy between the two assays were calculated. The linear regression analysis was used to predict the time interval till reaching 1% FVIII : C. Results. Fourteen patients with 56 samples were included in the study. Of them, 13 patients were receiving Elocta® as a prophylactic, while one was receiving Elocta® on demand. One-third of these samples showed a discrepancy between the chromogenic and one-stage assays. The two assays were well correlated. Mean differences were significant at the individual and the time interval level. The time since the last Elocta® injection could significantly predict FVIII : C levels (β = 0.366, P<0.001). Conclusion. Our findings suggested a significant difference between both methods; the FVIII : C levels measured by the one-stage assay were less than those estimated by the chromogenic assay. However, the measurements of FVIII levels by the two assays were well correlated but discrepant in one-third of the samples. The levels of FVIII : C reach 1% after 5.4 days since the last Elocta® administration

PA038 Down syndrome patients with acute lymphoblastic leukemia have an intermediate prognosis with high infectious morbidity

Purpose: Even with modern therapy the outcome of ALL in children with Down’s syndrome (DS) remains inferior to non-DS patients. The higher incidence of infections in this group of patients may result not only in toxic-mortality, but may also impact on leukemia-related outcomes due to therapy omissions and delays.Method: This retrospective analysis looks at the outcome of DS patients with ALL diagnosed between 1997 and 2009 at our institution.Results: Of 24 patients, 14 were males with a median age of 4.8 years (mean5.0þ0.53 years; range 1.4–12.8 years) at diagnosis. Two patients had corrected congenital cardiac defects. The mean WBC count was 35.8 x 109/L (SEMþ24.66; range 0.89–500). All patients had precursor B-cell phenotype, two had CNS disease and none had any risk-associated cytogenetic features. Two patients received 3-druginduction and 21 were started on a 4-drug induction. There were three early deaths during induction; one patient died of parainfluenza-related ARDS, one with multi-organism sepsis and H1N1 influenza infection and the third with disseminated aspergillosis. Of 22 patients who were evaluated for BM response at day 14 only one had residual leukemia, with 50% blasts. All 21 patients who completed induction achieved CR. OS at a median follow-up of 3 years is 69% compared to 81% for non-DS pre-B ALL patients treated during the same time period with similar protocols. Five relapsed (2 BM, 2 CNS, 1 BM+CNS) at a median of 11.8 months; RFS is 73.2%at a median of 3.1 years. Infectious toxicity was high during induction and intensification phases of therapy compared to other phases.Conclusion: ALL patients with DS need to be treated with fairly intensive therapy in order to improve disease related outcomes; however, one has to balance this with the increased risk of infections, particularly during induction and intensification phases

Prevalence of Bleeding Symptoms among Adolescents and Young Adults in the Capital City of Saudi Arabia

Background. Bleeding disorders vary in prevalence. While some are rare, some can be common in both sexes. Most bleeding disorders manifest as chronic bleeding tendencies or as an increase in bleeding during surgical procedures or trauma. The consequences of bleeding can be as simple as iron deficiency or catastrophic, resulting in severe morbidity and mortality. Bleeding disorders typically affect both sexes except hemophilia A and B, which mainly affects males. Method. We conducted a questionnaire-based survey among adolescents and young adults (1901 [49%] boys, 1980 [51%] girls) in Riyadh city regarding bleeding symptoms. Of these, 1849 (47.6%) responded “Yes/Positive” for at least one question about the bleeding symptoms. Results. The most common bleeding symptom was epistaxis (19.7% of the sample population) detected in Phase I of the study. A tandem survey was conducted among 525 adolescents who had responded “Yes/Positive” to any one of the questions inquiring about bleeding symptoms. Conclusion. In this study, we report for the first time the prevalence of bleeding symptoms in a representative sample of Saudi adolescents and young adults

Degree of concordance between peripheral blood leukemic blast count and mid induction bone marrow in childhood acute lymphoblastic leukemia

While different Pediatric ALL study groups have used varying definitions of early response (BM vs. PB, prophase vs. day 7 vs. day 14), all agree that it provides critical prognostic information. Bone Marrow aspiration and biopsy (BMA/B) is an invasive procedure requiring sedation or anesthesia, and an early/mid induction specimen may be difficult to interpret even by experienced hematopathologists. In this study we attempted to determine if there was a concordance between peripheral blood blast (PBB) clearance and the findings of the day 14 BMA/B, and whether day 7 PBB count could reliably replace a mid induction BMA/B. Clinical data for newly diagnosed pediatric (\u3c14 years) ALL patients between January 1999 and December 2001 were retrieved from our prospective database. Day 14 BMA/B slides were reviewed independently by two hematopathologist. For the total 165 patients, median age was 4 years, 53.9% were boys. Complete information was available for 151 of these patients and further analysis is based on this number. 124 (82.1%) were treated with 4 agents while the remainder received a 3-drug induction. 23 (18.5%) had positive PBB on D7, and 21 (13.9%) had \u3e5% blasts in the D14 BMA/B. The D7 PBB count could positively and negatively predict the D14 BMA/B 71.9% and 89.4% of the times, respectively. In conclusion, when the D14 BMA/B is used as a measure of early response, an absence of D7 PBB can reliably predict a negative BM, however persistence of PBB does not necessarily predict a sub-optimal BM response to early therapy. Therefore, patients without PBB on D7 may not require BMA/B on D14, therefore avoiding an invasive procedure for this group of patients

Clinical and laboratory presentation of von Willebrand disease: Experience from a single center in Saudi Arabia

الملخص: أهداف البحث: لتقييم العرض السريري والنتائج المعملية بين المرضى الذين تم تشخيص إصابتهم بمرض فون ويلبراند في وحدة الرعاية الثالثة في السعودية. طريقة البحث: تضمنت هذه الدراسة بأثر رجعي 189 مريضًا يعانون من مرض فون ويلبراند تمت متابعتهم في وحدتنا على مدار أربع سنوات ، وتم جمع البيانات السريرية والمخبرية وتحليلها باستخدام برنامج الحزمة الإحصائية للعلوم الاجتماعية. النتائج: كان متوسط عمر مجموعة الدراسة 30 عامًا (المدى 11 شهرًا - 56 عامًا). كان هناك غلبة للإناث بنسبة 32.30٪ ذكور و 66.70٪ إناث. معظم المرضى (48٪) تعرضوا لأكثر من نوع واحد من النزيف بناءً على التوطين وتم تحديدهم على أنه نزيف من مواقع مختلفة ، معظمها من المفاصل والعضلات (23.90٪) ، يليها الغشاء المخاطي (14.60٪) ، والجهاز البولي التناسلي (7.70٪) ، كدمات (2.80٪) ، ونزيف معدي معوي (2.80٪). 48٪ من الأشخاص الذين يعانون من أكثر من نوع واحد من النزيف ، 105 (58.01٪) لديهم النوع الأول ، 29 (16.02٪) لديهم النوع الثاني ، و 47 (25.96٪) لديهم النوع الثالث. كان متوسط قيمة الهيموجلوبين 116 ± 25.60 جم / لتر ؛ كان الفيريتين 75.80 ± 166.80 ميكروغرام / لتر (متوسط 28.5) ؛ كان مستضد فون ويلبراند 0.40 ± 0.27 وحدة دولية / مل ، وفون ويلبراند: كان العامل المساعد ريستوسيتين 0.32 ± 0.20 وحدة دولية / ديسيلتر 49.20٪ من الأشخاص أظهروا لفترات طويلة ، وأظهر 50.80٪ وقت الثرومبوبلاستين الجزئي الطبيعي. أظهر التحليل المقارن لفصيلة الدم من النوع أو مع النوع غير أو أن فصيلة الدم مرتبطة بشكل كبير مع العامل الثامن (قيمة ب = 0.013) ، عامل فون ويلبراند: العامل المساعد للريستوسيتين (قيمة ب = 0.004 ) ، وعامل فون ويلبراند: المستضد (قيمة ب = 0.019) الاستنتاجات: كان نزيف المفاصل والعضلات أكثر العروض السريرية شيوعا في مجموعتنا. على الرغم من أن مرض فون ويلبراند من النوع الأول كان الأكثر انتشارا في مجموعتنا ، فقد لاحظنا انتشارا أعلى نسبيا من النوع الثالث والذي قد يكون بسبب الاختلافات العرقية أو تحيز الإحالة. ومستضد عامل فون ويلبراند ، مع وجود فرق أكثر وضوحا لعامل مساعد ريستوسيتين. Abstract: Objectives: This study was aimed at assessing the clinical presentations and laboratory findings among patients diagnosed with vWD at a Saudi tertiary care unit. Methods: This retrospective study included 189 patients with vWD who were followed up in our unit over 4 years. Clinical and laboratory data were collected and analyzed in SPSS. Results: The median age of the study cohort was 30 years (range 11 months–56 years). The cohort had a female preponderance, with 32.30% males and 66.70% females. Bleeding from different sites was observed, mostly from the joints and muscles (23.90%), followed by the mucus membranes (14.60%), genitourinary areas (7.70%), ecchymoses (2.80%), and gastrointestinal areas (2.80%). A total of 48% of participants presented with more than one type of bleeding. A total of 105 (58.01%) participants had type 1; 29 (16.02%) had type 2; and 47 (25.96%) had type 3 vWD. Blood tests indicated the following mean value: hemoglobin, 116 ± 25.60 gm/L; ferritin, 75.80 ± 166.80 μg/L (median 28.5); vWAg, 0.40 ± 0.27IU/ml; and vWD:RCo, 0.32 ± 0.20IU/dL. The partial thromboplastin time was prolonged in 49.20% and normal in 50.80% of participants. Platelet function analysis values were prolonged in 92.90% and normal in 7.10% of participants. Comparative analysis of the O-type and non-O blood type showed that blood type O was significantly correlated with factor VIII (p-value = 0.013), vWF:RCo (p-value = 0.004), and vWF:Ag (p-value = 0.019). Conclusion: Joint and muscle bleeds were the most common clinical presentations in our cohort. Although type 1 vWD was most prevalent in our cohort, we observed a comparatively higher prevalence of type 3, possibly because of ethnic differences or referral bias. We found a significant difference between O and non-O blood type regarding FVIII and vWF:Ag, and observed a more pronounced difference for vWD activity measuresd by vWF:RCo with blood type O being the systematic factor