Sevgi Gozdasoglu

The Ped-APS Registry: the antiphospholipid syndrome in childhood

In recent years, antiphospholipid syndrome (APS) has been increasingly recognised in various paediatric autoimmune and nonautoimmune diseases, but the relatively low prevalence and heterogeneity of APS in childhood made it very difficult to study in a systematic way. The project of an international registry of paediatric patients with APS (the Ped-APS Registry) was initiated in 2004 to foster and conduct multicentre, controlled studies with large number of paediatric APS patients. The Ped-APS Registry is organised as a collaborative project of the European Forum on Antiphospholipid Antibodies and Juvenile Systemic Lupus Erythematosus Working Group of the Paediatric Rheumatology European Society. Currently, it documents a standardised clinical, laboratory and therapeutic data of 133 children with antiphospholipid antibodies (aPL)-related thrombosis from 14 countries. The priority projects for future research of the Ped-APS Registry include prospective enrolment of new patients with aPL-related thrombosis, assessment of differences between the paediatric and adult APS, evaluation of proinflammatory genotype as a risk factor for APS manifestations in childhood and evaluation of patients with isolated nonthrombotic aPL-related manifestations.

Granulocytic sarcoma. Cranial and breast involvement

The term granulocytic sarcoma designates an infrequent solid tumor composed of aggregates of immature granulocytic precursors in extramedullary sites. The lesion generally occurs either during the natural course of acute myelogenous leukemia or after a remission has been achieved; however, it may rarely represent the initial manifestation of the disease. We present radiologic features of cranial and breast involvement of granulocytic sarcoma in a 13-year-old female with acute myelogenous leukemia. The cranial lesion appeared nearly isointense with cortical gray matter on T1- and T2-weighted magnetic resonance (MR) images, and enhanced homogeneously after the injection of gadolinium. MRI showed a well-delineated lobulated mass in the left breast, which had a heterogeneous hyperintense signal and remarkable contrast enhancement.

Significance of Genetic Polymorphisms at Multiple Loci of CYP2E1 in the Risk of Development of Childhood Acute Lymphoblastic Leukemia

Background/Aims: The molecular etiology of childhood acute lymphoblastic leukemia (ALL) is likely to involve interactions between environmental factors and genetic make up. Understanding these interactions between various predisposing genes for the risk of developing childhood leukemia is of considerable importance. CYP2E1 is a susceptible gene in this respect, especially for its capacity to bioactivate many procarcinogens including benzene and N-nitrosodimethylamine. The CYP2E1 gene possesses several polymorphisms in humans, and among them, CYP2E1*5B and *6 have been shown to be associated with increased risks of several chemical-induced diseases. There are limited and contradictory data on the association between the CYP2E1*5B variant allele and childhood ALL, and none on such associations of CYP2E1*6 and*7B variant alleles. The aim of this study was to investigate the possible association of CYP2E1*5B, *6 and *7B alleles, alone or in combination, with the risk of incidence of childhood ALL in a Turkish population. Methods: The genotypes for both polymorphisms were determined by polymerase chain reaction/restriction fragment length polymorphism techniques on 207 healthy controls and 168 patients. Results: Neither locus was associated with the occurrence of childhood ALL. On the other hand, when both CYP2E1*5B and *6 alleles were considered together, the risk of childhood ALL increased significantly (2.9-fold; OR = 2.9, 95% CI 1.0–8.5; p < 0.05). Moreover, the presence of at least 2 variant alleles of any combination increased the risk significantly 3.9 times, suggesting a combined effect (OR = 3.9, 95% CI 1.4–11.0). Conclusion: Individuals carrying combinations of CYP2E1*5B, *6 and *7B variants together are likely associated with the risk of developing childhood ALL.

Fanconi’s Aplastic Anemia, Analysis of 18 Cases

A total of 18 patients within the age range of 5-13 years, 12 male and 6 female, are diagnosed as having Fanconis aplastic anemia on the basis of congenital abnormalities, pancytopenia, bone marrow hypoplasia, and chromosomal and hematologic analysis. The hereditary and familial basis of Fanconis aplastic anemia was apparent in this series. Common abnormalities were growth retardation, café au lait spots, hyperpigmentations, microcephaly, phalange deformities, mental retardation, and hypogenitalism; chromosome abnormalities were detected in the majority of our cases. Mast cells were observed in the bone marrow in most of the patients. 1 case developed acute myelomonocytic leukemia.

Serum levels and differential expression of CD44 in childhood leukemia and malignant lymphoma: Correlation with prognostic criteria and survival

Abstract Background : 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.

Medical neglect of a child: challenges for pediatricians in developing countries.

OBJECTIVE To conceptualize the underlying causes of the medical neglect of children in a developing country and to provide suggestions for the management of neglect by pediatricians. METHODS A case history of a 4-year-old boy from Turkey with neglect of the required treatment for acute lymphoblastic leukemia is used to examine the causes and management of medical neglect. RESULTS Although epidemiological studies on child neglect are lacking, this case exemplifies how in DEVELOPING countries, reasons for neglect or non-compliance with medical recommendations and the roles and actions taken by the health care and the social service systems may differ from western populations. Common to both western and developing countries, the characteristics of the child, family, and society may be reasons for medical neglect. However, cultural fatalistic beliefs profoundly present in the developing world may also contribute to the medical neglect of a child. Identification of the neglect, a comprehensive, multidisciplinary assessment emphasizing the strengths within the family and the society, and the determination of the pediatric team to act in the best interest of the child may result in resolution of the neglect even in circumstances where resources within systems are not sufficient. CONCLUSIONS In developing countries, increased emphasis on child neglect, its prompt recognition and management within the pediatric profession as well as at a health care and social service system levels are needed to address this prevalent and potentially fatal child health problem.

Zinc and anergy in pediatric Hodgkin's disease in Turkey

Blood (serum, erythrocytes) and hair zinc levels were determined in 60 biopsy‐proven pediatric Hodgkins disease cases at diagnosis. Cellular immunity also was assessed through total lymphocyte counts, Erosette formation, lymphoproliferative response (LP), and delayed cutaneous hypersensitivity tests to dinitrochlorobenzene, streptokinase‐streptodornase, purified protein derivative and phytohemagglutinin (PHA) in some of these patients. Interestingly, anergic patients unresponsive to four antigens showed significantly more depressed serum zinc levels as well as decreased lymphoproliferative response to mitogen (PHA). A positive correlation could be shown between serum zinc level, cutaneous anergy and LP. A possible contributing role of zinc deficiency in defective cell mediated immunity in Hodgkins disease was proposed, and administration of oral zinc, as a natural immunostimulant is considered in this lymphoma. Cancer 59:305–309, 1987.

EXTRAMEDULLARY HEMATOPOIESIS WITH SPINAL CORD COMPRESSION IN A CHILD WITH THALASSEMIA INTERMEDIA

Spinal cord compression due to extramedullary hematopoiesis is an extremely rare complication of thalassemia intermedia. No cases with this complication have been reported in the first decade of life, because masses of heterotropic marrow developed in patients as a result of continuous erythropoiesis. We report the 9-year-old patient suffering from thalassemia intermedia and presenting spinal cord compression. We also review the literature about treatment options, because there is no consensus about the optimal treatment of these patients. Our patient was successfully treated with radiation therapy followed by hydroxyurea. With this combination therapy, he had no recurrence during the 4-year follow-up period. Clinical awareness of this phenomenon with the early treatment is essential for optimizing the successful outcome.

RIGHT ATRIAL CATHETER-RELATED COMPLICATIONS IN PEDIATRIC ONCOLOGY PATIENTS: The Situation in a Developing Country

The complications of right atrial catheters (RACs) in pediatric oncology patients are unknown for centers in developing countries. This study examined the complications of RACs at Ankara University Medical School, Turkey. A total of 90 RACs were placed in 61 children for long-term chemotherapy with a total experience of 15,536 catheter days. The rate of catheter-related sepsis was 4.9 episodes per 1000 catheter days. Coagulase-negative staphylococci and Candida species were the most common organisms, accounting for 25.0 and 13.1% of all organisms, respectively. The most common reasons for the removal of the RACs were infection (42.4%) and dislodgement (32.2%). The rates of complications were significantly higher in this study than in western studies. This increase could be explained by the differences in catheter care practices in the Turkish center. In conclusion, the use of RACs in a developing country necessitates an appraisal of the benefits and risks for each patient and improvement of catheter care procedures.

Related donor hematopoietic stem cell transplantation for Fanconi anemia without radiation: A single center experience in Turkey

Abstract:  Eight children with FA underwent allogeneic HSCT without using irradiation for the conditioning regimen. Patients received two different conditioning regimens: first two patients received BU 1.5 mg/kg/day for four days and CY 10 mg/kg/day for four days and the other regimen was: Flu 30 mg/m2/day for five days, CY 10 mg/kg/day for two days, and ATG‐Fresenius 9–10 mg/kg/day for four days. GVHD prophylaxis consisted of CsA + MTX for the first two patients and only CsA for the others. All patients received HLA‐identical stem cells from related donors. Primary engraftment was demonstrated in all patients. No patient developed acute GVHD and one patient had chronic GVHD. Only one patient who received BU based regimen died because of VOD. Overall, seven patients (87.5%) are alive with stable full donor chimerism at a median follow‐up time of 2.5 yr (range: 1.7–8.9 yr). None of the patients developed secondary malignancy. Based on our data, we conclude that Flu‐based, non‐irradiation conditioning regimen was safe with low organ toxicity and stable engraftment in FA patients undergoing HSCT from matched related donors.