Inhibitor development upon switching from plasma-derived to recombinant factor VIII in previously untreated patients with severe hemophilia A: the PUP-SWITCH study.

Background: The SIPPET randomized clinical trial showed that in previously untreated patients (PUPs) with severe hemophilia A, treatment with plasma-derived factor (F)VIII (pdFVIII) within the first 50 exposure days (EDs) was associated with a lower cumulative incidence of inhibitors than with recombinant FVIII (rFVIII). Switching to rFVIII beyond 50 EDs with pdFVIII is a treatment often implemented by many centers. The question is whether or not this switch may induce a risk of inhibitor development.

Retrospective analysis of hemophilia B in Turkey: identifying main characteristics and treatment options.

Background: Hemophilia B (HB), an X-linked recessive inherited bleeding disorder, exhibits a high prevalence among males.

Objectives: To present the first national cohort of persons with HB to define the demographics, clinical characteristics, and treatment patterns in Turkey.

Methods: This multicenter, retrospective study included 433 alive persons with HB registered in 35 centers between 1961 and 2018.

Experience with Pediatric Chronic Immune Thrombocytopenia over 30 Years in the Era before Eltrombopag.

Background: There is limited information on the natural course of chronic ITP in children. We aimed to evaluate the clinical and demographic characteristics of children with chronic ITP in the era before the availability of eltrombopag.

Methods: A total of 86 children with chronic ITP between 1978-2014 were included.

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.

Sirolimus is effective and safe in childhood relapsed-refractory autoimmune cytopenias: A multicentre study.

Autoimmune cytopenias are a heterogeneous group of disorders characterized by immune-mediated destruction of haematopoietic cell lines. Effective and well-tolerated treatment options for relapsed-refractory immune cytopenias are limited. In this study, the aim was to evaluate the efficacy and safety of sirolimus in this disease group within the paediatric age group.

Impact of gene variants on prognosis and survival of childhood acute lymphoblastic leukemia.

The () gene is one of the most studied genes in cancer. Although variants are rare events in acute leukemia, recent observations showed that relapse samples might harbor variants. Here, we aimed to determine variants (hotspot region, exon 4-11) in childhood acute lymphoblastic leukemia (B and T-ALL) patients ( = 94) including diagnostic-relapse pairs ( = 15) by amplicon sequencing and evaluate the clinical impact of these variants.

Can biomarkers predict myocardial iron overload in children with thalassemia major?

Aim: Beta-thalassemia major requires regular blood transfusions throughout life, which in turn leads to iron accumulation in the body. While cardiac T2* MRI is the gold standard in determining cardiac iron accumulation, it is not always feasible, which has led to the search for new biomarkers. Herein, the value of growth differentiation factor-15, galectin-3, and N-terminal pro-B-type natriuretic peptide in predicting cardiac iron accumulation is investigated in asymptomatic children with beta-thalassemia major.

Evaluation of left ventricular function and myocardial deformation in children with beta-thalassemia major by real-time three-dimensional (four-dimensional) and speckle tracking echocardiography.

Aim: This study aimed to evaluate the role of real-time three-dimensional (four-dimensional) and speckle tracking echocardiography for early detection of left ventricular systolic dysfunction and also for the relationship between myocardial deformation parameters and myocardial iron load which is measured by cardiac magnetic resonance relaxation time T2* values in asymptomatic children with beta-thalassemia major.

Material And Methods: This multicenter cross-sectional study included 40 patients (mean age 15.4 ± 2.

Central Nervous System Fungal Infections in Children With Leukemia and Undergoing Hematopoietic Stem Cell Transplantation: A Retrospective Multicenter Study.

Background: Central nervous system fungal infections (CNSFI) are seen in patients with hematologic malignancies and have high morbidity and mortality. Because of their rarity, there is limited data on CNSFI in children with no established treatment protocols or guidelines.

Materials And Methods: In this multicenter retrospective study, 51 pediatric patients with leukemia, 6 of whom had undergone bone marrow transplantation, with proven or probable CNSFI were evaluated.

Hemophagocytic Lymphohistiocytosis.

Hemophagocytic lymphohistiocytosis (HLH) is an aggressive life-threatening disease that consists of uncontrolled activated lymphocytes and macrophages that secrete excessive cytokines. Symptoms and laboratory findings of HLH include prolonged fever, cytopenia, hepatosplenomegaly, liver dysfunction, hypertriglyceridemia, hyperferritinemia, increased soluble interleukin-2 receptor, low fibrinogen, and neurological problems. HLH has two forms: primary (familial autosomal recessive) or secondary (related to infections, malignancy, autoimmune and metabolic disorders, transplantations, chimeric antigen receptor T-cell therapies, etc.

Zinc finger protein 384 () impact on childhood mixed phenotype acute leukemia and B-cell precursor acute lymphoblastic leukemia.

B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a heterogeneous malignancy and consists of several genetic abnormalities. Some of these abnormalities are used in clinics for risk calculation and treatment decisions. Patients with rearrangements had a distinct expression profile regardless of their diagnosis, BCP-ALL or mixed phenotype acute leukemia (MPAL) and defined as a new subtype of ALL.

Effect of platelet count and platelet transfusion on fever duration in patients with febrile neutropenia.

Platelets play a role in hemostasis, thrombosis, and vascular integrity. They also play a major role in the development of inflammation and the activation of immune responses. They have phagocytic activity, stimulate the secretion of immune modulators, and activate other immune cells, which results in platelet-neutrophil aggregation, platelet-induced neutrophil degranulation, and the formation of neutrophil extracellular traps.

Primitive neuroectodermal tumor in a child with Currarino syndrome.

Background: Curarino syndrome is a rare and complex anomaly with the triad of anorectal malformation, presacral mass and sacral bone deformation. The most common cause of the presacral mass is meningioma, but teratoma is the diagnosis in about one-third of the cases. Malignant transformation of teratoma in the form of carcinoma, rhabdomyosarcoma and leukemia have previously been reported on rare occasions.

Episcleral Iodine-125 radioactive plaque brachytherapy as a salvage treatment for retinoblastoma in the era of intraarterial chemotherapy.

Background: Retinoblastoma shows high rates of recurrence after initial chemotherapy (systemic or intraarterial). Our aim was to evaluate the effectiveness of iodine-125 radioactive plaque brachytherapy as a salvage treatment with globe-preserving attributes after initial chemotherapy in patients with intraocular retinoblastoma.

Methods: The effect of brachytherapy was investigated retrospectively in 17 eyes of 17 patients who were followed up due to retinoblastoma between May 2012 and June 2018 and who received iodine-125 radioactive plaque brachytherapy as a salvage treatment after systemic or intra-arterial chemotherapy.

Gain-of-function variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.

IKZF1/IKAROS is a key transcription factor of lymphocyte development expressed throughout hematopoiesis. Heterozygous germline haploinsufficient () and dominant-negative () variants in humans cause B cell immune deficiency and combined immunodeficiency. Here, we identified previously unidentified heterozygous variants (R183C/H) located in the DNA binding domain in eight individuals with inflammatory, autoimmune, allergic symptoms, and abnormal plasma cell (PC) proliferation.

Castleman Disease: A Multicenter Case Series from Turkey.

Objective: Castleman disease (CD) is a rare disease also known as angiofollicular lymph node hyperplasia. The two main histological subtypes are the hyaline vascular and plasma cell variants. It is further classified as unicentric CD (UCD) or multicentric CD (MCD) according to the anatomical distribution of the disease and the number of lymph nodes involved.

Role of Immunohistochemistry in the Differential Diagnosis of Pediatric Renal Tumors: Expression of Cyclin D1, Beta-Catenin , PDGFR-Alpha, and PTEN.

Objective: Pediatric renal tumors overlap histomorphologically and may cause misdiagnosis. We aimed to determine the role of immunohistochemical staining of Cyclin D1, PTEN, beta-catenin and PDGFR-alpha on pediatric renal tumors.

Material And Method: Thirty-six cases of 8 different tumors were included in the study.

Assessment of Minimal Residual Disease in Childhood Acute Lymphoblastic Leukemia: A Multicenter Study From Turkey.

Assestment of minimal residual disease (MRD) in childhood acute lymphoblastic leukemia (ALL) is of utmost importance both for risk classification and tailoring of the therapy. The data of pediatric ALL patients that received treatment with Berlin-Frankfurt-Münster (BFM) protocols were retrospectively collected from 5 university hospitals in Turkey. Of the 1388 patients enrolled in the study 390 were treated according to MRD-based protocols.

Increased risk for kidney sequelae surrogates in survivors of Wilms tumor.

Background: There is evidence of increased risk of hypertension, albuminuria, and development of chronic kidney disease (CKD) in long-term follow-up of survivors of Wilms tumor (WT). However, most studies were conducted in heterogeneous groups, including patients with solitary kidney. In addition, little is known about tubular dysfunction.

Impact of having a sibling with cancer or type I diabetes mellitus on psychopathology and self-conscious emotions in adolescents: a comparative study including controls.

Background: OBJECTIVE: Having a child diagnosed with cancer is stressful for the whole family and may cause significant psychological impact on parents and siblings. Chronic, life-altering diseases may also have similar effects in siblings due to the daily life changes in the family to accommodate the child with chronic disease. We investigated the impact of having a sibling with cancer or type 1 diabetes mellitus (T1DM) on the psychological features of adolescents, with particular focus on self-conscious emotions such as guilt and shame-which are associated with the development of psychopathologies.

Adverse COVID-19 outcomes in immune deficiencies: Inequality exists between subclasses.

Background: Genetic deficiencies of immune system, referred to as inborn errors of immunity (IEI), serve as a valuable model to study human immune responses. In a multicenter prospective cohort, we evaluated the outcome of SARS-CoV-2 infection among IEI subjects and analyzed genetic and immune characteristics that determine adverse COVID-19 outcomes.

Methods: We studied 34 IEI patients (19M/15F, 12 [min: 0.

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.

Background: Biallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological characterizations of the disease with long-term follow-up and treatment options have not been previously reported in large cohorts. We sought to determine the clinical and immunological features of CARMIL2 deficiency and long-term efficacy of treatment in controlling different disease manifestations.