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ABSTRACT: Autosomal recessive osteopetrosis is a rare, fatal disease characterized by accumulation of excessive bone mass due to defective bone resorption. The pathogenesis of osteopetrosis is controversial. Osteoblast-osteoclast interaction defects, incorrect differentiation of osteoclasts, abnormal contact between osteoclast and extracellular matrix, and abolished signaling are included in this process. Recently, mutations in the gene of the vacuolar proton pump have been described in some cases of recessive osteopetrosis. Glanzmann's thrombasthenia (GT) is a rare hereditary qualitative platelet disorder characterized by a lifelong bleeding tendency due to quantitative and qualitative abnormalities of the platelet integrin alpha(IIb) beta3. Several mutations on either integrin alpha(IIb) [glycoprotein (GP) IIb] or integrin beta(3) (GP IIIa) were reported in GT. We report on a patient with autosomal recessive osteopetrosis concurrently diagnosed with variant type Glanzmann's thrombasthenia. To our knowledge, our patient was the first case reported in the literature in which osteopetrosis and Glanzmann's thrombasthenia were diagnosed together.
Annals of Hematology 05/2003; 82(4):254-6. · 2.62 Impact Factor
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ABSTRACT: Glanzmann thrombasthenia is a rare hereditary qualitative platelet disorder characterized by a lifelong bleeding tendency due to quantitative and qualitative abnormalities of the platelet integrin alpha(IIb)beta3. Common clinical manifestations include purpuric type skin bleeding, prolonged bleeding from minor cuts, epistaxis, gingival bleeding and menorrhagia. Less frequently, gastrointestinal system bleeding may occur. Haemarthrosis, haematuria, intracranial and visceral haemorrhage are very rare symptoms. This study reports a 3-y-old girl with Glanzmann thrombasthenia who presented with life-threatening haemothorax. There was no history of recent trauma or drug usage and no vascular or parenchymal abnormalities to explain the development of haemothorax. Conclusion: To the authors' knowledge this is the first case of Glanzmann thrombasthenia complicated by spontaneous haemothorax.
Acta Paediatrica 02/2002; 91(10):1139-40. · 2.07 Impact Factor
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N Taçyildiz,
A O Cavdar,
G Yavuz,
S Gözdaşoglu,
E Unal,
U Ertem, F Duru,
A Ikinciogullari,
E Babacan,
I Kuzu,
S Cin
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ABSTRACT: The CD44, a cell surface proteoglycan, participates in a variety of function including tumor dissemination and metastasis. However, there are no available data on the prognostic significance of CD44 expression of tumor tissue correlated with serum sCD44 level in childhood leukemias and lymphomas.
Serum levels and leukemic cell tumor tissue expression of CD44 were detected in 54 children with acute leukemia and malignant lymphoma. Serum samples were obtained from all patients before treatment and during remission. Twelve age-matched healthy children were included as a control group.
The serum CD44 levels were significantly higher in patients with Hodgkin's disease (HD), non-Hodgkin's lymphoma (NHL), Burkitt's lymphoma (BL) and acute lymphoblastic leukemia (ALL) than those in the control group. The median values were 1627.0, 1336.0, 1318.5, 1730.4, 902.7 ng/mL, respectively, and P<0.001, P<0.01, P<0.01, P<0.05 in comparisons, respectively. However, there was no significant difference between acute myeloid leukemia (AML) and the control group (median values: 900.3 and 902.7 ng/mL, respectively, P>0.05). Serum sCD44 levels significantly declined in HD, NHL and ALL patients who were in complete remission (median values: 684.0, 573.8 and 1101.1 ng/mL, respectively, P<0.05 in each comparison). Patients with HD had higher levels of serum sCD44 and correlated well with higher erythrocyte sedimentation rate (ESR), B-symptoms and advanced-stage disease (P<0.05, P<0.05 and P<0.01, respectively). Expression of CD44 was significantly high in patients with HD and NHL who were in advanced stages of disease. High serum CD44 level was also associated with high tumor tissue expression of CD44 in patients with HD and BL. In addition, patients with higher levels of serum sCD44, had a poorer outcome and survival than those with lower sCD44 levels in HD and NHL groups.
A high serum sCD44 level and/or tumor tissue expression at diagnosis is associated with poor prognostic criteria and/or unfavorable outcome in childhood leukemias and lymphomas.
Pediatrics International 09/2001; 43(4):354-60. · 0.63 Impact Factor
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Medical and Pediatric Oncology 12/2000; 35(5):496-7.
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ABSTRACT: Magnesium and zinc are the elements having essential roles in regulation of cell growth, division and differentiation. There have been some studies in the literature suggesting an association between the deficiency of these elements and the development of malignant disorders. In this study hair and serum zinc and magnesium levels were investigated in children with acute lymphoblastic leukemia (ALL) and malignant lymphoma (ML) at the time of initial diagnosis. Ten children with T-cell ALL, 10 children with B-precursor ALL, 5 children with Burkitt's Lymphoma (BL), 11 children with Hodgkin's lymphoma (HL), 10 children with non-Burkitt non-Hodgkin's lymphoma (NBNHL) and 12 age and sex matched healthy children as a control group were included in the study. Mean hair magnesium levels in all of the groups of the patients were lower than the levels in the control group but the difference was statistically significant only in the children with T cell ALL comparable to the controls (28.9+/-3.9 microg/g and 87.6+/-18.5 microg/g respectiveley, p<0,05). Mean serum magnesium levels in all the cohorts were not significantly different than those in controls (p>0.05 in each comparison). Mean hair zinc levels in the patients with T-cell, B-precursor ALL, BL, HL, NBNHL were 103.4+/-14.6 microg/g, 100.9+/-7.8 microg/g, 91.1+/-19 microg/g, 72.5+/-9.1 microg/g, 103.2+/-12.2 microg/g respectively. Each of these levels were significantly lower than the mean hair zinc levels of the control group (141.2+/-9.6 microg/g, p<0.05 in each comparison). Although mean serum zinc levels in all of the groups were also decreased, the differences were statistically significant only in the groups with B-precursor ALL, HL and NBNHL (75.9+/-5.29 microg/dl, 68.6+/-7.3 microg/dl, 85.7+/-5.5 microg/dl respectively) when compared with controls (105.1+/-9.9 microg/dl, p<0.05 in each comparison). Hair magnesium and zinc levels showed a positive correlation with each other in all the groups (r congruent with 0.5). No significant difference was found in the mean hair/serum magnesium and zinc levels between malnourished and nonmalnourished patients. In conclusion, regarding the results of our study and previous data in the literature chronic magnesium and zinc deficiency seems to be associated with the development of ALL and malignant lymphoma in a group of patients.
Leukemia and Lymphoma 11/2000; 39(5-6):555-62. · 2.58 Impact Factor
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ABSTRACT: The authors have seen transient pancytopenia with erythroid hypoplasia and striking trilineage myelodysplasia reminiscent of true myelodysplastic syndrome (MDS) in 3 children, 1 with thalassemia intermedia and the other 2 with previously undiagnosed hereditary spherocytosis. In these 3 children transient pancytopenia and myelodysplasia coincided with serological evidence of acute parvovirus-B19 (PV-B19) infection, strongly suggesting their relevance. It is of interest that these 3 cases were encountered within a period of 6 months. This might be an incidental event, but it might also be concluded that acute PV-B19 infection associated transient pancytopenia with morphological appearance of MDS may occur more frequently than reported in the literature. So, PV-B19-associated nonclonal MDS should be considered in the differential diagnosis of true clonal MDS.
Pediatric Hematology and Oncology 10/2000; 17(6):475-82. · 0.89 Impact Factor
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S Yetgin,
A Gürgey,
A M Tuncer,
M Cetin,
N Ozbek,
T Sayli,
E Güler,
A Kara,
L Olcay, F Duru,
F Gümrük,
L Atahan,
E Tunçbilek
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ABSTRACT: In this preliminary study the efficacy of high-dose methylprednisolone (HDMP) during remission-induction chemotherapy was evaluated on 166 children with acute lymphoblastic leukemia (ALL). The St. Jude Total Therapy Study XI protocol with minor modifications was used in this trial. Patients were randomized into two groups. Group A received conventional-dose (2 mg/kg/day orally) prednisolone, and group B received high-dose methylprednisolone (HDMP, Prednol-L, 900-600 mg/m2 orally) during remission-induction chemotherapy. Complete remission was achieved in 97% of the children. For the 80 patients who were followed up for 3 years, median follow-up was 44 (range 5-60) months and the 3-year event-free survival (EFS) rate was 68.5%) overall, 58.6% in group A and 78.4% in group B. The EFS among patients in group B was significantly higher than in group A (p=0.05). When we compared the 3-year EFS of groups A and B in the high-risk groups and high-risk subgroups with white blood cell (WBC) counts > or = 50 x 10(9)/l and age > or = 10 years, the survival rates were 45% versus 77.2%, 33% versus 78% and 45% versus 89%, respectively. During the follow-up of 162 patients, relapses were significantly higher in group A. Bone marrow relapses in 162 patients, and also in a subgroup of patients > or = 10 years of age were significantly higher in group A. These results suggest that HDMP during remission-induction chemotherapy improves long-term EFS, particularly for high-risk patients.
Leukemia Research 06/1998; 22(6):485-93. · 2.92 Impact Factor
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ABSTRACT: Soluble L-selectin was determined in the CSF samples of 20 children with CNS leukemia at the time they had blasts in CSF and/or clinical findings of CNS involvement; 17 CSF fluid samples were obtained from 17 of these 20 children, 29-91 days before the appearance of CSF cytological and/or clinical findings of CNS involvement; while 15 CSF samples were withdrawn from among the same group of children, after treatment of meningeal leukemia. In addition, CSF sL-selectin was also assayed in 17 children with ALL, who remained in complete remission at least for a year and, as controls, in 12 children without malignant or meningeal disorders. There was no significant difference in CSF sL-selectin levels between the children with ALL without evidence of meningeal involvement and the controls (1.34 +/- 0.21 ng/ml, 1.46 +/- 0.18 ng/ml respectively, p > 0.05). However, in children with CNS leukemia, not only at the time CNS involvement was diagnosed, but also 29-91 days before the diagnosis of CNS leukemia, the concentrations of the CSF sL-selectin (12.41 +/- 2.14 ng/ml, 7.70 +/- 1.60 ng/ml respectively) were significantly higher than those in controls (p < 0.001 and p < 0.01 respectively). After treatment and disappearance of the blasts in CSF, sL-selectin was found to be decreased and even normalized in the majority of children who had meningeal involvement (2.87 +/- 2.14 ng/ml). In 5 children, the CSF sL-selectin remained high, after the blasts in CSF had disappeared and CNS leukemia recurred within 3 months in 4 of these 5 children. In conclusion, assay of sL-selectin in CSF seems to be a good diagnostic tool in the detection of CNS involvement in children with ALL. This method may also be used as an indicator, in prediction of the CNS leukemia, which is going to develop.
Leukemia and Lymphoma 02/1998; 28(3-4):391-8. · 2.58 Impact Factor
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ABSTRACT: A nine-year old girl with T cell acute lymphoblastic leukemia (ALL) had acute severe neurologic complications at the end of the remission-induction chemotherapy course. Thirty-six hours following triple intrathecal (IT) therapy and intravenous (IV) administration of L-asparaginase (L-asp), tetraplegia developed and she became unconscious. She had bouts of hypertension and persistent tachycardia unresponsive to digitalis therapy. Magnetic resonance imaging (MRI) showed multiple brain white matter hyperintensities and filling defects in the saggital sinus, suggesting thrombosis. Over the 40 days, in addition to her neurologic compromise she also had transient diabetes mellitus, severe hyperlipidemia, hypoproteinemia and edema, liver and heart failure and staphylococcus aureus sepsis with prolonged bone marrow depression. Despite, coexistence of all these chemotherapy related complications, her neurologic functions and multiple organ failure improved gradually. After a 70 days' period of interruption, chemotherapy was resumed and continued without any further complications. Although, the etiology of her extensive sensitivity to some drugs remains unclear, we believe that it is important to document these unusual events in this child.
Leukemia and Lymphoma 08/1997; 26(3-4):377-85. · 2.58 Impact Factor
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ABSTRACT: We measured circulating serum levels of granulocyte colony stimulating factor (G-CSF), granulocyte macrophage colony stimulating comparable to the levels of these factors in 12 children with acute febrile infections without malignancy or hematological disorders and 15 age matched healthy controls. There were significantly elevated levels of G-CSF, GM-CSF and TNF alpha, in 12 children with infections without leukemia, as compared with controls. Also in 18 leukemic children with infections serum G-CSF and TNF alpha levels were significantly higher than those in the leukemic children without infection and healthy controls, whereas no significant difference was noted in the GM-CSF levels in these groups. Although elevation in TNF alpha levels in response to infections were similar in the children with and without leukemia, in the G-CSF levels lower elevation was noted in the leukemic children with infections as compared to the children with infections without leukemia. Despite leukopenia enhanced the production of G-CSF, even in leukopenic children with leukemia and infections, serum G-CSF levels were still lower than those for the children with infections without leukemia. We concluded that, the production of G-CSF and GM-CSF as a response to infection was deficient in the patients with acute leukemia in remission, probably due to the maintenance and reinforcement chemotherapy. Therefore, the use of recombinant G-CSF may be recommended in the infections of these patients.
Journal of medicine 02/1995; 26(5-6):241-52.
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ABSTRACT: Prednisolone was administered to three children with hereditary spherocytosis. At the time corticosteroid therapy was started, two of the patients were suffering from severe hemolytic anemia and the 3rd patient had partially recovered from hemolytic anemia after splenectomy. All of the patients prednisolone produced a remarkable increase in the hemoglobin levels with a concomitant increase in reticulocyte counts. We conclude that corticosteroids might stimulate erythropoiesis and may be an alternative therapy to red cell transfusion in pre-operative states for patients with hereditary spherocytosis.
Acta paediatrica Japonica; Overseas edition 01/1995; 36(6):666-8.
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American Journal of Hematology 02/1994; 45(1):94. · 4.67 Impact Factor
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ABSTRACT: Four children, ages seven to ten years, with direct antiglobulin test (DAT)-positive chronic hemolytic anemia are presented. The patients were followed for 3 to 10 years. Autoantibody against red cell antigens was nonspecific IgG type in all of the patients. In one of the four patients, anemia was associated with splenomegaly and jaundice. In this patient, the third component of the complement was also detected on the red cell surface. In one patient, serum IgA deficiency and frequent pulmonary infections were associated with the disease. This patient developed rheumatoid arthritis five years after diagnosis of hemolytic anemia. The third patient initially had thrombocytopenia subsequently developed DAT-positive hemolytic anemia, vitiligo and alopecia without any evidence of serologic changes suggestive of collagen vascular disorders. In these three patients, partial response was obtained with steroid therapy. The fourth patient developed DAT-positive hemolytic anemia twice during the five year follow-up period. Anemia resolved completely with steroid therapy in two months during the first episode, and in five months in the second. Generalized and peripheral lymphadenopathies which developed at the time of the second hemolytic anemia episode have persisted for the last three years. Administration of cyclosporine in two of the four patients did not result in any amelioration of the symptoms.
Journal of medicine 02/1994; 25(3-4):231-40.
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ABSTRACT: The expression of CD34 antigen on the surface of bone marrow cells during remission induction was studied in 27 selected acute lymphoblastic leukemia (ALL) patients who were CD34 negative at presentation and were stratified to receive high-dose methylprednisolone (30 mg/kg/day po) or conventional-dose prednisolone (2 mg/kg/day po). Patients received either induction with L-Asparaginase, vincristine (VCR), and high-dose methylprednisolone [HDMP, 30 mg/kg/day po for 1 week, 20 mg/kg/day po for 1 week, and 20 mg/kg/day po every other day for 2 more weeks (20 patients)], or identical induction in which HDMP was replaced by prednisolone 2 mg/kg/day by mouth for 4 weeks (8 patients). Bone marrow cells from all patients were studied 1,2, and 4 weeks after initiation of treatment for expression of the CD34 antigen using a three-step indirect immunoperoxidase staining technique. In the 20 patients with ALL who received HDMP the percentage of normal bone marrow cells expressing CD34 was significantly higher (p < 0.05) than in the 8 patients who did not receive HDMP. The mean percentage of CD34-positive bone marrow cells during the fourth week was 17.2% in patients with ALL who received HDMP, whereas patients who received 2 mg/kg prednisolone per day had only 6.1% CD34 cells in the marrow. Absolute polymorphonuclear leukocyte (pmnl) count was also significantly higher in the patients who received HDMP in the second and third week of therapy [(absolute pmnl count was 2197.7/mm3 in the second week and 4091.8/mm3 in the fourth week in the patients who received HDMP compared to 974.4/mm3 and 1556.5/mm3 in the patients who did not receive HDMP) (p < 0.05)].(ABSTRACT TRUNCATED AT 250 WORDS)
Hematologic pathology 01/1994; 8(4):169-75.
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European Journal Of Haematology 10/1993; 51(3):173-4. · 2.61 Impact Factor
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ABSTRACT: A 6-month-old male infant with hereditary spherocytosis (HS) who was the first child of a cousin marriage is presented. The patient had splenomegaly and severe anaemia. Examination of the peripheral blood smear revealed spherocytes and the osmotic fragility of red blood cells was greatly increased. Physical examination of the parents revealed that both parents had mild anaemia, jaundice and splenomegaly. Their peripheral blood smears showed spherocytes and a few acanthocytes. Osmotic fragility of red blood cells of both parents were increased. Red cell membrane electrophoresis indicated a deficiency of ankyrin in the propositus; mild deficiency was also detected in both parents. Electrophoretic patterns of red cell membrane proteins suggested that the child was homozygous for the dominant form of HS associated with ankyrin deficiency, while both parents had the simple dominant form of the disease. Red blood cell transfusions were given to the patient starting at the age of 1 month until splenectomy was performed at the age of 1 year that resulted in complete haematological response. This observation indicates that homozygosity for dominant type of HS associated with ankyrin deficiency is life compatible and splenectomy may cure the anaemia.
British Journal of Haematology 12/1992; 82(3):596-600. · 4.94 Impact Factor
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The Lancet 11/1990; 336(8722):1078-9. · 38.28 Impact Factor
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ABSTRACT: Serum levels and leukemic cell-tumor tissue expression of intracellular adhesion molecule-1 (ICAM-1/CD 54) were detected in 54 children with acute leukemia and malignant lymphoma. Serum samples were obtained from all patients before treatment and after cessation of the therapy from malignant lymphoma cases and during remission from leukemic patients. Twelve age-matched healthy children were included as a control group. The serum ICAM-1 levels were significantly higher in patients with acute lymphoblastic leukemia (ALL) or Hodgkin's disease (HD) than those in the control group (median values: 350.9, 286.4, and 138.4 ng/mL, respectively; P < .01 in each comparison). However, there were no significant differences concerning serum ICAM-1 levels between the control group and each of the acute myeloid leukemia (AML), non-Hodgkin's lymphoma (NHL), and Burkitt's lymphoma (BL) case groups (median values: 235.7, 222.7, 195.9, and 138.4 ng/mL, respectively; P > .05 in each comparison). Moreover, serum soluble ICAM-1 levels significantly declined in ALL or HD patients who were in complete remission (median values: 185.0 and 145.4 ng/mL, respectively; P < .05 in each comparison). In HD patients high levels of serum ICAM-1 could be correlated with high ESR (P < .01), whereas no statistically significant difference could be found when serum ICAM-1 titers were compared with stages, B symptoms, and histological subgroups, probably because of the inadequate number of patients in each group. Expression of ICAM-1 was mainly attributed to lymphocytes, vessels, and weakly to Hodgkin's cells, and this was significantly high in patients who were in advanced stages of disease. High serum sICAM-1 level was also associated with poor outcome and survival. Determination of serum level and/or tumor tissue expression of ICAM-1 in HD and ALL might represent an additional, but probably not independent, disease-associated marker to be used in the evaluation and/or monitoring of treatment response in patients with HD and ALL.
Pediatric Hematology and Oncology 16(2):149-58. · 0.89 Impact Factor
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ABSTRACT: In this study, 82 Turkish children with Hodgkin's disease (HD) between 1 and 14 years of age and diagnosed over a 10-year period were evaluated retrospectively. More than half of the patients (54%) presented with advanced stages of HD. Mixed cellularity (MC) was the most frequent (56.1%) histopathologic type, which was followed by nodular sclerosing (NS, 18.3%) in frequency. None of the patients received radiotherapy as initial treatment. In 67 children the COPP regimen alone and in 15 the ABVD regimen alternating with COPP were started, to be given as a total of 12 courses. In the patients who presented with stage I-II HD the overall survival (OAS) rate and 5-year event free survival (EFS) rate were 92.3% and 77.8%, respectively. In the patients with advanced disease (stage III-IV) OAS and 5-year EFS were estimated to be 89.5% and 67.4%, respectively. No serious toxicity of chemotherapy was detected during the follow-up. In this group, clinical, epidemiological and histopathologic features of the disease showed a special pattern close to the type I pattern of HD. Regarding the survival rules and occurrence of low toxicity in our patients, results of prolonged chemotherapy alone seem to be encouraging in most of the children with HD. However, the follow-up duration is not yet sufficient to declare a clear conclusion related to the late complications.
Pediatric Hematology and Oncology 14(4):359-66. · 0.89 Impact Factor
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ABSTRACT: We report a case of thalassemia major in which severe cytoplasmic vacuolization was seen in white blood cells as well as in their precursors. Cytochemical examination of the vacuoles revealed Sudan Black staining. Consequently, we believe that our patient had Jordans' anomaly coexisting with thalassemia major.
The Turkish journal of pediatrics 36(3):255-8. · 0.44 Impact Factor
