A Newborn with Giant Cell Tumor of the Occipital Bone: Case Report

Giant cell tumors of bone (GCTB) are commonly benign neoplasms and characterized by regional progressive and destructive lesions. They have a malignant potential and the capacity to metastasis. Incidents of GCTB are reported in 20% of all benign and 5% of all malignant bone tumors and pediatric cases account for less than 5% of all them. the first line treatment strategy for GCTBs is surgical resection. A male baby presented at our hospital on his 10th day of life suffering from respiratory distress and persistent vomiting. His blood and urine panels were within normal parameters. CMRI was performed to evaluate his condition. the CMRI report noted a “suspected 4x3 cm contrasted bone-derived malignant-looking mass at the left posterior fossa of the cranium”. the biopsy confirmed: “A grade 1-2 giant cell tumor of bone”. Surgical resection was not possible because of the location of the mass and its proximity to blood vessels but chemotherapy was the one strategy available in this particular case. the chemotherapy regimen consisted of cisplatin 1 mg/kg/day (1-3 days) and doxorubicin 1 mg/kg/day (1,2 days) and was applied four times every month. Using CMRI, we noted a reduction in mass of more than 50% after two sessions and complete regression after four sessions. the patient was given regular follow-ups with no evidence of recurrence and co-morbidity were observed over the next 60 months. We recommend chemotherapy as a successful alternative strategy when surgical resection, radiotherapy, and other therapies are not applicable for GCTBs

Cerebral Involvement of Hemophagocytic Lymphohistiocytosis in Griscelli Syndrome

Type II Griscelli Syndrome (GS) is caused by a mutation in the RAB27A gene and usually manifests with silvery-gray hair, immune deficiency and the development of hemophagocytic lymphohistiocytosis (HLH). A hematopoietic stem cell transplantation is the curative treatment for HLH and reduced-intensity conditioning prevents the morbidity/mortality in the transplantation related to myeloablative conditioning. We report on a 21-month old boy with cerebral involvement of HLH related to GS

Evaluation of Bleeding Phenotype of Inherited Factor VII Deficiency in Children With a Bleeding Assessment Tool and Global Assays

WOS: 000562759500042PubMed: 31343480Introduction:Inherited factor VII (FVII) deficiency is the most common of the rare bleeding disorders and shows a heterogenous distribution of bleeding phenotypes independent of factor activity level. the bleeding score (BS) evaluates the phenotype of patients with rare bleeding disorders. Thromboelastography (TEG) and thrombin generation assays (TGAs) are 2 methods to evaluate global hemostasis, and controversially both tests are useful for identifying different bleeding tendency phenotypes. the purpose of this study was to investigate the use of the BS and global assays (TEG and TGAs) to predict the bleeding phenotype of inherited FVII deficiency.Materials and Methods:A total of 27 patients with FVII deficiency were evaluated with the BS and global hemostasis assays.Results:The BS was compatible with disease severity according to the FVII activity level (P0.05). No significant correlation was observed between the factor activity level and any TEG parameter (P>0.05). the factor activity level was negatively correlated with the lag time of the TGA on the contrary positively correlated with the peak thrombin time of the TGA (P<0.05).Conclusions:The global assays do not successfully predict the bleeding phenotype. the BS is a more suitable tool than conventional and global assays for predicting the bleeding phenotype

Successful immune tolerance induction with low-dose coagulation factor VIII in a patient with hemophilia A from a developing country

Inhibitor development is the most frequent and serious complication of the treatment in patients with hemophilia. Immune tolerance induction (ITI) is the only option of treatment for the eradication of factor VIII (FVIII) inhibitor. We would like to present our case with hemophilia whose FVIII inhibitor eradication was done by a low-dose ITI regimen. Our patient has been applied on-demand therapy until 8 years of age. Secondary prophylaxis was began because of having hemophilic arthropathy. A low titer of FVIII inhibitor (4.2 BU/ml) was detected in the fifth month of the prophylaxis. The peak inhibitor titer of patient was 4.6 BU/ml, and there was no decrease in inhibitor titer in the follow-up duration. The low-dose ITI (50 IU/kg, 3 days a week) was started. His inhibitor level was detected negative and the recovery test was ameliorated in the 15th of the ITI therapy. High-dose regimen ITI could not be given particularly in developing countries such as Turkey in view of the high cost of treatment. Patients who had good risk factors might be successfully treated by using low-dose ITI regimen as effective as high-dose ITI regimen. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved

Which tests can most effectively indicate the clinical phenotype of paediatric haemophilia patients with prophylaxis?

Patients with haemophilia A who have similar FVIII levels show clinical heterogeneity, and 10-15% of patients with severe haemophilia do not have a severe bleeding phenotype. The aim of this study was to assess whether global haemostasis tests, such as thrombin generation assay (TGA) and thromboelastography (TEG), can predict the bleeding pattern of severe haemophilia better than trough levels and pharmacokinetic profiles, particularly in the prophylactic setting. The study group consisted of 39 patients with haemophilia A and 75 healthy controls. The annual bleeding rate (ABR) and Hemophilia Joint Health Score 2.1 (HJHS) of the patients were determined. Basal factor FVIII, inhibitor levels, TEG and TGA of participants with prophylaxis were performed after a washout period. Then, a recombinant FVIII product was administered to patients. After factor replacement, the above tests were repeated at 30 min, 6 and 48 h. There was a significant difference in the ABR and HJHS between the groups according to the basal factor VIII activity of patients after wash-out. TEG and TGA parameters of patients with factor activity above 1% were significantly better than those of patients with factor activity below 1%. After factor concentrate administration, factor activities, TEG and TGA parameters at 30 min, 6 and 48 h were similar in the two groups. We showed that the 1% trough level but not for the 3% trough level is critical for both clinical phenotypes and thrombin generation for haemophilia patients in the prophylactic setting

Immunization status and re-immunization of childhood acute lymphoblastic leukemia survivors

Intensive chemotherapy can cause long-lasting immunosuppression in children who survived cancer. The immunosuppression varies according to the type of cancer, intensity of chemotherapy and age of the patient. A sufficient immune reconstruction when has been completed in childhood cancer survivors, the re-vaccination program can achieve sufficient antibody levels for some of the life-threatening vaccine-preventable infectious diseases. This study evaluates the serological status of pediatric acute lymphoblastic leukemia (ALL) cases before and after the intensive chemotherapy treatment. Antibodies against measles, mumps, rubella, varicella, hepatitis A and B were tested with the enzyme-linked immunosorbent assay (ELISA) method. Antibody titers were measured firstly at the leukemia diagnosis time when the chemotherapy was not started. The second evaluation of antibody titers was studied at 6 months after the cessation of chemotherapy for all patients. Forty-six patients with the mean age of 6.1 ± 4.5 years were participated in this study. Changing to seronegative after treatment was significantly different in measles, rubella, hepatitis A and hepatitis B (p < .05). Seventy-eight (28%) antibody levels in the patients were non-protective for all diseases. Only three (7%) patients had protective antibody levels for all diseases in the sixth month of chemotherapy cessation. There was a negative correlation between patient’s age and losing protective antibody levels for any vaccine-preventable disease (p < .05). Antibody levels against vaccine-preventable diseases have evident that reduced after ALL treatment at childhood. Pediatric ALL survivors must be re-vaccinated for vaccine-preventable diseases after achieving immune reconstruction

Prognosis of Second Primary Malignancies in Pediatric Acute Lymphoblastic Leukemia Survivors: A Multicenter Study by the Turkish Pediatric Hematology Society

The improved survival rates of childhood cancers raise the long-term risk of second primary malignancy (SPM) in childhood and adolescent cancer survivors. The intensity of the treatment protocol used, the use of some groups of chemotherapeutics, and radiotherapy were found to be risk factors for the development of second primary malignancies (SPMs). Forty-one patients who developed acute myelocytic leukemia or any solid organ cancer within 25 years of follow-up, after completion of pediatric acute lymphoblastic leukemia (ALL) treatment, were included in the study. The mean duration of initial ALL diagnosis to SPM was 9.3 ± 6.1 years. The 3 most common SPMs were acute myelocytic leukemia, glial tumors, and thyroid cancer. Thirteen (81%) of 16 patients exposed to cranial irradiation had cancer related to the radiation field. In total 13/41 (32%) patients died, and the 5-year overall survival rate was 70 ± 8%. Patients older than 5 years old at ALL diagnosis had significantly worse overall survival than cases younger than 5 years old. In conclusion, children and adolescents who survive ALL have an increased risk of developing SPM compared with healthy populations, and physicians following these patients should screen for SPMs at regular intervals

Evaluation Of The Achievement Of Hematologists To Transfusion Medicine Education With Self-Assessment Questionnaire In Turkey

Background: Proper clinical use of blood andblood products requires competent theoreticaland practical knowledge of transfusion medicine.The Curriculum Development and StandardDetermination System Medical SpecializationBoard is prepared Hematology SpecialistEducation Core Curriculum in Turkey. In thisstudy, we aimed to determine the access ofhematologists to the learning objectives definedby curriculum for the transfusion medicine andthe factors affecting it.Methods: Hematologists who have beenmembers of Turkish Hematology Society since2013 have been included in the study, Thesurvey questions were prepared based on thecurriculum for transfusion medicine. The studywas applied to hematologists with “surveymonkey” application. The questionnaireconsisted of a competence self-assessment withLikert scale and theoretical multiple-choiceknowledge questions.Results: Of the 213 hematologists, 54 (25%)were included in the study. Hematologists ratedtheir competences in the clinical competenceareas as 3,65 ± 0,73 (median 3,60) as “I knowbut not t a sufficient level”. The participants‘perception of competence was “I know, butnot at a sufficient level’” with an average of3.31 ± 0.84 (median3.5) in the blood bankingfield, while the average in hemapheresis andtransfusion medicine was 4.04 ± 0.63 (median4) as “enough”. In interventional procedures,hematologists stated that their vocationalcompetences were 2,79± 0,92 (median 2,93)on average as “I have an idea- I know, but notenough”. The correct answer to 13 theoreticalquestions was an average of 6,96 ± 1,89(median 7). Hematologists performing bloodrotation felt significantly more competent thanthe physicians who could not do the rotation inthe blood bank, blood banking t(52) = -3.9, p .001 , transfusion medicine and interventionalcompetence t(52) = -2.2, p = .04 . Physicianswho believed that they are sufficient in theblood banking area, were more confident intransfusion medicine r(54) = .67, p .001 andmanaging interventional procedures r(54) =.85, p .001.Conclusion: In this study, hematologistsgenerally felt more competent in subjects suchas transfusion and therapeutic apheresis,which they often think of as not having enoughknowledge in the area of blood banking.Hematologists have been more confident inthe field of transfusion medicine as their yearsof expertise increased, but they did not feelbetter equipped in the fields of blood bankingand interventional competence. The currentresults suggested that hematologists who areexpected to be the blood bank supervisors do notinternalize the area of blood banking, are notstrong in their competence, and do not want towork in this area unless they are required.In hematology education curriculum, positiverevisions in education can be achieved byrevising blood banking curriculum and learningobjectives, standardizing blood center rotationswith content and duration, and support fromonline distance education programs