Both Granulocytic and Non-Granulocytic Blood Cells Are Affected in Patients with Severe Congenital Neutropenia and Their Non-Neutropenic Family Members: An Evaluation of Morphology, Function, and Cell Death.

Objective: To examine granulocytic and non-granulocytic cells in children with severe congenital neutropenia (SCN) and their non-neutropenic parents.

Materials And Methods: Fifteen patients with SCN and 21 non-neutropenic parents were evaluated for a) CD95, CD95 ligand, annexin V, propidium iodide, cell cycle, and lymphocyte subsets by flow cytometry; b) rapid cell senescence (of leukocytes) by senescence-associated β-galactosidase stain; c) aggregation tests by aggregometer; d) in vitro bleeding time by PFA-100 instrument; e) mepacrine-labeled dense granule number of thrombocytes by fluorescence microscope; and f) hematomorphology by light and electron microscope. HAX1, ELANE, G6PC3, CSF3R, and JAGN1 mutations associated with SCN were studied in patients and several parents.

Transcobalamin II Deficiency in Four Cases with Novel Mutations.

Objective: Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending up with intracellular cobalamin depletion and high homocysteine and methylmalonic acid levels.

Materials And Methods: Herein, we describe the findings at presentation of four patients who were diagnosed to have transcobalamin II deficiency with novel mutations.

Results: These patients with transcobalamin II deficiency were found to have novel mutations, of whom 2 had the same large deletion (homozygous c.

Parvovirus-B19 and hematologic disorders.

Parvovirus-B19 (PV-B19) is a member of Parvoviridae, which is one of the smallest DNA viruses. PV-B19-associated diseases usually serve as a good representation of the balance of virus, host response and the immune system. The diseases manifested with PV-B19 are erythema infectiosum, which is common in children, hydrops fetalis, transient pure red cell aplasia in patients with chronic hemolytic anemia, arthralgia - mostly observed in women, and chronic pure red cell aplasia in immunocompromised individuals.

Fludarabine, cytarabine, granulocyte colony-stimulating factor, and idarubicin (FLAG-IDA) for the treatment of children with poor-prognosis acute leukemia: the Hacettepe experience.

Fludarabine, cytarabine, granulocyte colony-stimulating factor (G-CSF), and idarubicin (FLAG-IDA) regimen has been proven to be a potentially useful chemotherapy regimen for relapsed or poor-prognosis childhood leukemia. The aim of the study was to evaluate complete remission (CR) rate, toxicity, and overall survival of children with poor-prognosis acute leukemia who received the FLAG-IDA regimen. Furthermore, the authors investigated the children who achieved CR following FLAG-IDA treatment regarding their eligibility for allogeneic hematopoietic stem cell transplantation (HSCT).

Acral erythema with bullous formation: a side effect of chemotherapy in a child with acute lymphoblastic leukemia.

Chemotherapy-induced acral erythema (CIAE) with bullous formation is an uncommon complication in children. We describe herein a child who developed CIAE with bullous formation following high-dose methotrexate and cytarabine for relapsed acute lymphoblastic leukemia. The rash completely resolved within two weeks of the appearance without any specific treatment.

Evaluation of the effects of and earliest response rate to anti-D treatment in children with chronic idiopathic thrombocytopenic purpura: a pilot study.

In this pilot study, 30 (14 male, 16 female; median age: 8 years, range: 2-18) chronic non-splenectomized idiopathic thrombocytopenic purpura (ITP) patients with Rh+ blood group and their 49 attacks were evaluated after intravenous (i.v.) anti-D (WinRho SDF, Cangene Corporation, Winnipeg, MB, Canada) treatment at a dose of 50 microg/kg x 3 days (n = 21 cases; 35 attacks) or a single dose of 75 microg/kg (n = 9 cases; 14 attacks) to define the hemostatic dose of anti-D.

Risks and outcome of fungal infection in neutropenic children with hematologic diseases.

In this retrospective study, we report the results of antifungal treatments (AFTs) in febrile neutropenic episodes in patients with acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML) and aplastic anemia (AA) in our center. From January 2004 to December 2005, a total of 52 patients and 221 febrile neutropenic episodes were evaluated. AFT was started in 96 (43%) of the 221 episodes.

Measles, mumps, and rubella antibody status and response to immunization in children after therapy for acute lymphoblastic leukemia.

Seventy-seven patients with acute lymphoblastic leukemia (ALL) who were in complete remission and whose therapies had been stopped for at least 6 months before enrollment in this study were retrospectively analyzed regarding their antibody status for measles, mumps, and rubella, with the aim to demonstrate the seropositivity rate after treatment in the authors' group. Each patient's serum samples were analyzed by enzyme-linked immunosorbent assay (ELISA) method to determine the antibody titers before and after immunization. Measles serology was available in 77 children; 45 (58%) were seronegative.

Chronic recurrent multifocal osteomyelitis as the first presentation of acute lymphoblastic leukemia in a 2-year-old boy.

We present herein a 2-year-old boy who suffered from chronic recurrent multifocal osteomyelitis for 6 months and was later diagnosed as acute lymphoblastic leukemia. In view of the rarity of bilateral symmetric and multifocal lesions in osteomyelitis in children, we suggest that leukemia should be investigated with bone marrow aspiration in such patients, even if complete blood count parameters are normal, and there is no hepatosplenomegaly.

The absence of peripheral blood blasts at diagnosis may predict CNS involvement or CNS relapse in pediatric acute lymphoblastic leukemia patients.

A high tumor burden at the time of diagnosis of childhood acute lymphoblastic leukemia has an unfavorable outcome. Peripheral white blood cell count is commonly used to reflect the leukemic burden and is used as one of the most important factors during determination of the risk-based treatment. However, peripheral blood blast count may not always reflect the tumor burden if leukocytes are not in blast nature.

The prognostic impact of myeloid antigen expression in pediatric acute lymphoblastic leukemia patients.

The incidence of mixed-lineage leukemias in the pediatric age group was previously reported as 13.8% for myeloid antigen-positive ALL and 11.1% for lymphoid antigen-positive acute myeloid leukemia (AML).

Alternative algorithm for L-asparaginase allergy in children with acute lymphoblastic leukemia.

Background: L-asparaginase is a crucial chemotherapeutic agent for the treatment of acute lymphoblastic leukemia. The alternatives to L-asparaginase are not available in many parts of the world, including Turkey.

Objective: We sought to evaluate the utility of premedication with or without a desensitization protocol in children with acute lymphoblastic leukemia and systemic hypersensitivity reactions to Escherichia coli-asparaginase.

The evaluation of acquired aplastic anemia in children and unexpected frequency of varicella-zoster virus association: a single-center study.

In this study, 32 patients under the age of 17 years with acquired aplastic anemia (AAA) were evaluated. Nine patients developed AAA associatedwith viral infection in which viral hepatitis and varicella infection were nearly equal. Four of the patients were administered drugs before developing AAA.

Dysplasia and disorder of cell membrane entirety in iron-deficiency anemia.

Peripheral blood smears of 43 patients (26 males, median age 18 months, range: 6-180 months) with nutritional iron-deficiency anemia (IDA) were examined for the presence of trilineage hematological dysplasia. Twelve patients were reexamined for dysplastic findings after achieving a normal Hb and hematocrit level for age by the end of 2-3 months of iron treatment. A control group of 17 age-matched healthy children were also included.

Intravenous immunoglobulin in the treatment of severe methotrexate-induced acral erythema.

Chemotherapy-induced acral erythema is an uncommon and dramatic reaction to high-dose chemotherapy. It is characterized by painful erythema of both palms and soles with symmetrically well-defined borders, which may progress to bullae formation and desquamation. The bullous variant of this reaction has been reported with methotrexate and more frequently cytosine arabinoside.

Weekly long-term intravenous immunoglobulin for refractory parvovirus B19 and Epstein-Barr virus-induced immune thrombocytopenic purpura.

In pediatric acute immune thrombocytopenic purpura (ITP) cases, it is usually possible to determine an underlying pathology; among them, viral infections are the leading causative agents. In this report, we describe two cases of acute ITP complicated secondary to parvovirus B19 or Epstein-Barr virus (EBV) infections who were unresponsive to initial therapeutic measures, but who responded to long-term intravenous immunoglobulin (IVIG) treatment, given weekly for five to eight weeks.

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.

Homozygous mutations in HAX1 cause an autosomal recessive form of severe congenital neutropenia (CN). By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations. Of these, 2 affect both published transcript variants of HAX1; the other 2 mutations affect only transcript variant 1.

Favorable outcome with allogeneic hematopoietic stem cell transplantation in pediatric acquired aplastic anemia patients.

The data of allogeneic HSCT in nine children with acquired AA between June 1998 and July 2006 were analyzed retrospectively. The median duration of time to neutrophil and platelet engraftment was 18 and 25 days, respectively. None of the patients had primary graft failure.

Varicella zoster-associated severe aplastic anemia in a child and its successful treatment with peripheral blood stem cell transplantation from HLA-5/6-identical donor.

Background: Varicella zoster virus is very rarely associated with aplastic anemia. Bone marrow transplantation from an HLA-identical sibling is the treatment of choice.

Case Report: A seven-year-old boy presented with aplastic anemia (AA) following chicken pox infection.

Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents.

Here, a case is presented with two rare genetic disorders, biotinidase deficiency and juvenile myelomonocytic leukemia, in a Turkish infant. This case may serve as a reminder that the diagnosis of a genetic disorder does not exclude the possibility of a second congenital but acquired disease.

Rapid cell senescence and apoptosis in lymphocytes and granulocytes and absence of GM-CSF receptor in congenital dysgranulopoietic neutropenia.

A girl with congenital dysgranulopoietic neutropenia (CDN) and her non-neutropenic mother with aphthae (A) were investigated. Apoptosis in lymphocytes and granulocytes of both patients (mother A+) were documented by high annexin and electron microscopic morphology. CD11b/CD18 of the daughter's granulocytes ranged between low to normal while that of the mother changed between very low to high levels through A(-) to A(+) periods.

The rate of hepatitis B and C virus infections and the importance of HBV vaccination in children with acute lymphoblastic leukemia.

Aim: The aim of the study was to evaluate the rate of hepatitis B and C virus infection and emphasize the importance of hepatitis B virus (HBV) vaccination in leukemic children.

Methods: One hundred and sixty children who were treated for acute lymphoblastic leukemia (ALL) at Hacettepe University Faculty of Medicine, Pediatric Hematology Unit were included in the study. They were 71 (44.