The association of HLA-DRB1 alleles and MBL2 gene variant in pediatric acute lymphoblastic leukemia patients.

Introduction: Epidemiologic studies on pediatric acute lymphoblastic leukemias (ALL) have been conducted to evaluate the possible risk factors including genetic, infectious and environmental factors with the objective of idenfying the etiology. Mannose-binding lectin 2 (MBL2) plays an important role in first-line immune defense. HLA DRB1 alleles play a role in presentation of peptides to T cells and in activation of the adaptive immune response.

Prognostic Factors and Long-term Outcomes in 41 Children With Primary Hemophagocytic Lymphohistiocytosis: Report of a Single-center Experience and Review of the Literature.

Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening hyperinflammatory syndrome with diverse clinical manifestations leading to major diagnostic and therapeutic difficulties. This study aimed to evaluate clinical manifestations, prognostic factors, and long-term outcomes in children with primary HLH. Forty-one patients diagnosed with primary HLH were retrospectively evaluated for patient characteristics, HLH gene mutations, clinical and laboratory manifestations, prognostic factors, and long-term outcomes.

Different Kinetics and Risk Factors for Isolated Extramedullary Relapse after Allogeneic Hematopoietic Stem Cell Transplantation in Children with Acute Leukemia.

Relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains the most frequent cause of post-transplantation mortality. Isolated extramedullary (EM) relapse (iEMR) after HSCT is relatively rare and not well characterized, particularly in pediatric patients. We retrospectively analyzed 1527 consecutive pediatric patients with acute leukemia after allo-HSCT to study the incidence, risk factors, and outcome of iEMR compared with systemic relapse.

Clinical Features and Outcome of Children With Hereditary Spherocytosis.

Objective: The aim of this study was to evaluate the demographics, clinical, and laboratory findings and treatment responses of patients with hereditary spherocytosis (HS).

Materials And Methods: Data of children with HS were examined. Diagnosis was based on clinical history, physical examination, family history, presence of spherocytes on peripheral blood smear, and osmotic fragility test.

Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III.

Type I and III leukocyte adhesion deficiencies (LADs) are primary immunodeficiency disorders resulting in early death due to infections and additional bleeding tendency in LAD-III. The curative treatment of LAD-I and LAD-III is allogeneic hematopoietic stem cell transplantation (allo-HSCT). In this retrospective multicenter study, data were collected using the European Society for Blood and Marrow Transplantation registry; we analyzed data from 84 LAD patients from 33 centers, all receiving an allo-HSCT from 2007 to 2017.

Prognostic factors for survival in children who relapsed after allogeneic hematopoietic stem cell transplantation for acute leukemia.

Background: Post-transplant relapse has a dismal prognosis in children with acute leukemia undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT). Data on risk factors, treatment options, and outcomes are limited.

Procedure: In this retrospective multicenter study in which a questionnaire was sent to all pediatric transplant centers reporting relapse after allo-HSCT for a cohort of 938 children with acute leukemia, we analyzed 255 children with relapse of acute leukemia after their first allo-HSCT.

Role of a second transplantation for children with acute leukemia following posttransplantation relapse: a study by the Turkish Bone Marrow Transplantation Study Group.

We examined outcomes of 51 pediatric patients with relapsed acute leukemia (AL) who underwent a second allogeneic hematopoietic stem cell transplantation (alloHSCT). After a median follow-up of 941 days (range, 69-2842 days), leukemia-free survival (LFS) and overall survival (OS) at 3 years were 26.6% and 25.

Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.

Background: Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might be more frequent.

Method: Two hundred and sixteen patients with severe congenital neutropenia from 28 different pediatric centers in Turkey were registered.

Total-body irradiation using linac-based volumetric modulated arc therapy: Its clinical accuracy, feasibility and reliability.

Purpose: To report the feasibility, accuracy, and reliability of volumetric modulated arc therapy (VMAT)-based total-body irradiation (TBI) treatment in patients with acute myeloid leukemia (AML) or acute lymphoblastic leukemia (ALL).

Materials And Methods: From 2015 to 2018, 30 patients with AML or ALL were planned and treated with VMAT-based TBI, which consisted of three isocenters and three overlapping arcs. TBI dose was prescribed to 90% of the planning treatment volume (PTV) receiving 12 Gy in six fractions, at two fractions per day.

Congenital Factor Deficiencies in Children: A Report of a Single-Center Experience.

Congenital factor deficiencies (CFDs) refer to inherited deficiency of coagulation factors in the blood. A total of 481 patients with CFDs, who were diagnosed and followed at our Pediatric Hematology and Oncology Clinic between 1990 and 2015, were retrospectively evaluated. Of the 481 cases, 134 (27.

Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience.

GS2 is a rare autosomal recessive disease characterized by hypopigmentation, variable immunodeficiency with HLH. HSCT is the only curative treatment for GS2. We analyzed the outcome of 10 children with GS2 who underwent HSCT at our center between October 1997 and September 2013.

Treatment of neonatal fungal infective endocarditis with recombinant tissue plasminogen: activator in a low birth weight infant case report and review of the literature.

With advances in medical sciences, an increase in survival rates of low birth weight; increased incidence in use of catheter and antibiotics, and total parenteral nutrition are reported, therefore, the rate of fungal infections in late and very late onset neonatal sepsis have increased. Although fungal endocarditis rarely occur in newborns, it has a high morbidity and mortality. Antifungal therapy is often insufficient in cases who develop fungal endocarditis and surgical treatment is not preferred due to its difficulty and high mortality.

Acute Megakaryoblastic Leukemia with t(1;22) Mimicking Neuroblastoma in an Infant.

Acute megakaryoblastic leukemia (AMKL) with t(1;22) (p13;q13) is an extremely rare subtype of acute myeloid leukemia that is almost always described in infants. t(1;22) (p13;q13)-positive AMKL with extramedullary infiltration has been previously reported only once in the literature. Herein, we report a 3-month-old infant presenting with a pelvic mass and pancytopenia suggesting neuroblastoma.

Molecular diagnosis of shwachman-diamond syndrome presenting with pancytopenia at an early age: the first report from Turkey.

A three-month-old boy presented with growth failure, skeletal abnormalities, otitis media and pancytopenia. Exocrine pancreatic insufficiency was confirmed by low levels of fecal elastase. He was diagnosed as Shwachman-Diamond syndrome by clinical and laboratory findings.

Coexisting or underlying risk factors of hepatic veno-occlusive disease in pediatric hematopoietic stem cell transplant recipients receiving prophylaxis.

Objectives: To evaluate the characteristics of veno-occlusive disease in pediatric hematopoietic stem cell transplant recipients, and their effect as a prophylactic regimen on severity and outcome.

Materials And Methods: This study included 204 allogeneic hematopoietic stem cell transplants performed on 187 children whose data retrospectively described the risk factors, prophylaxis, and treatment modalities of veno-occlusive disease. A prophylactic regimen composed of enoxaparin versus ursodeoxycholic acid and vitamin E was given to 167 of 204 patients.

Anaphylactic reaction to polyethylene-glycol conjugated-asparaginase: premedication and desensitization may not be sufficient.

In hypersensitive reactions to native L-asparaginase, either premedication and desensitization or substitution with polyethylene glycol conjugated asparaginase (PEG-ASP) is preferred. Anaphylaxis with PEG-ASP is rare. An 8-year-old girl and a 2.

Intracerebral metastasis in pediatric acute lymphoblastic leukemia: A rare presentation.

Central nervous system leukemia may present in different ways. However, intraparenchymal mass is extremely rare in childhood leukemia. Herein, we report a boy who presented with right hemiparesis and anisocoria 1 year after the cessation of the chemotherapy protocol for acute lymphoblastic leukemia.

Spinal cord involvement in a child with familial hemophagocytic lymphohistiocytosis.

The involvement of the central nervous system (CNS) in familial hemophagocytic lymphohistiocytosis (FHL) has known to be limited to the brain, brain stem, and cerebellum. Herein, we report an 11-year-old boy who presented with neurological symptoms and was diagnosed as FHL by molecular diagnosis. The hemophagocytic lesions in the CNS were shown to extend to the thoracal level of spinal cord which completely disappeared after the completion of hemophagocytic lymphohistiocytosis-2004 protocol.

Is Swine-origin Influenza a Predisposing Factor for Deep Vein Thrombosis?

Herein we report a sixteen-year-old female that developed deep vein thrombosis (DVT) while undergoing treatment for H1N1 pneumonia. To the best of our knowledge this is the first report of H1N1/09 infection complicated by DVT in an adolescent patient with no detected risk factors other than immobilization. Healthcare providers should be aware of the possibility of thrombosis in patients with swine-origin influenza, especially in those with additional risk factors.

Recurrent pediatric thrombosis: the effect of underlying and/or coexisting factors.

The objective of this study was to evaluate the underlying diseases, thrombus localization, and other risk factors in pediatric patients with recurrent thrombosis in order to obtain a sense of early awareness of the possible recurrences. We retrospectively evaluated both inherited and acquired thrombophilic risk factors in children with recurrent thrombosis that were diagnosed and treated at Hacettepe University, School of Medicine, Department of Pediatric Hematology, Ankara, Turkey. Both congenital and acquired risk factors associated with recurrent thrombosis, and treatment modalities were analyzed in detail.

A rare metabolic complication of acute lymphoblastic leukemia in childhood: lactic acidosis.

A 13-year-old boy presented with nausea, fatigue, weight loss, and bone pain for two months. Complete blood count and serum renal and liver function tests were all normal. Blood gas analysis revealed severe metabolic acidosis with high anion gap.

Chronic myeloid leukemia presenting with visual and auditory impairment in an adolescent: an insight to management strategies.

A 15-year-old girl presented with progressive deterioration in vision and hearing over 1 week. A huge spleen was palpated below the left costal margin laying down to inguinal region. Blood count showed hyperleukocytosis with a white blood cell count of 455 × 10(9)/l.