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Öğe Central nervous system thrombosis in pediatric acute lymphoblastic leukemia in Turkey: A multicenter study(Wiley, 2023) Guzelkucuk, Zeliha; Karapinar, Deniz Yilmaz; Gelen, Sema Aylan; Tokgoz, Huseyin; Ozcan, Alper; Ay, Yilmaz; Bahadir, AysenurBackgroundIn patients with acute lymphoblastic leukemia (ALL), the risk of thromboembolism increases due to hemostatic changes secondary to the primary disease and due to treatment-related factors. In this multicenter study, we aimed to research the frequency of central nervous system (CNS) thrombosis occurring during treatment, hereditary and acquired risk factors, clinical and laboratory features of patients with thrombosis, treatment approaches, and thrombosis-related mortality and morbidity rates in pediatric ALL patients. ProcedurePediatric patients who developed CNS thrombosis during ALL treatment from 2010 to 2021 were analyzed retrospectively in 25 different Pediatric Hematology Oncology centers in Turkiye. The demographic characteristics of the patients, symptoms associated with thrombosis, the stage of the leukemia treatment during thrombosis, the anticoagulant therapy applied for thrombosis, and the final status of the patients recorded through electronic medical records were determined. ResultsData from 70 patients with CNS thrombosis during treatment, out of 3968 pediatric patients with ALL, were reviewed. The incidence of CNS thrombosis was 1.8% (venous: 1.5 %; arterial: 0.03%). Among patients with CNS thrombosis, 47 had the event in the first 2 months. Low molecular weight heparin (LMWH) was the most commonly used treatment with a median of 6 months (min-max: 3-28 months). No treatment-related complications occurred. Chronic thrombosis findings occurred in four patients (6%). In five (7%) patients who developed cerebral vein thrombosis, neurological sequelae (epilepsy and neurological deficit) remained. One patient died related to thrombosis, and the mortality rate was 1.4%. ConclusionCerebral venous thrombosis and, less frequently, cerebral arterial thrombosis may develop in patients with ALL. The incidence of CNS thrombosis is higher during induction therapy than during other courses of treatment. Therefore, patients receiving induction therapy should be monitored carefully for clinical findings suggestive of CNS thrombosis.Öğe Del(12)(p13) assocciated with IGH rearrangement in B-cell acute lymphoblastic leukemia with Down syndrome(Springer, 2013) Durakbasi-Dursun, H. Gul; Tokgoz, Huseyin; Tuncez, Ebru; Caliskan, Umran; Zamani, Ayse Gul; Acar, Aynur; Yildirim, M. Selman[Abstract Not Availabe]Öğe Essential thrombocythemia with Mpl W515 K mutation in a child presenting with Budd-Chiari syndrome(Taylor & Francis Inc, 2015) Tokgoz, Huseyin; Caliskan, Umran; Yuksekkaya, Hasan Ali; Kucukkaya, ReyhanEssential thrombocythemia (ET) is an extremely rare childhood disorder characterised by clonal expansion of megakaryocytic lineage in bone marrow, leading to a persistent increase in the number of circulating thrombocytes and thus increased risk for thrombotic and haemorrhagic events. The molecular mechanisms of ET are not fully understood. Most children with ET have the JAK2 V617F somatic mutation; however, another mutation, involving a W to L or K substitution at Mpl codon 515, was reported in a small proportion of adult ET patients that is extremely rare in children. Herein, we describe a Mpl W515K somatic mutation in a paediatric case of ET who presented with Budd-Chiari syndrome. No paediatric patient harbouring a Mpl W515K mutation has been previously reported.Öğe Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations(Springer India, 2019) Gultekin, Nazli Dilay; Yilmaz, Fatma Hilal; Tokgoz, Huseyin; Tarakci, Nuriye; Caliskan, UmranIntroductionGlanzmann thrombasthenia is a rare congenital platelet dysfunction.Case characteristicsA 2-day-old male neonate delivered at 35 weeks' gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/ CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations.OutcomeGeneral precautions to avoid injuries and spontaneous bleeding were advised.MessageLife-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors.Öğe Novel mutations of integrin ?IIb and ?3 genes in Turkish children with Glanzmann's thrombasthenia(Taylor & Francis Inc, 2015) Tokgoz, Huseyin; Ozkan, Didem Torun; Caliskan, Umran; Akar, NejatGlanzmann's thrombasthenia (GT) is an inherited disorder of platelet aggregation, characterized by qualitative and quantitative defect on platelet alpha IIb beta 3 integrin (GpIIb/IIIa), resulting in lifelong bleeding tendency due to defective platelet plug formation. The alpha IIb gene (ITGA2B) and beta 3 gene (ITGB3) are closely located at chromosome 17q21.31-32. ITGA2B consist of 30 exons and encoding alpha chain, whereas ITGB3 has 15 exons and encoding beta chain. Until now, according to the Human Gene Mutation Database (HGMD), 138 mutations at ITGA2B gene and 101 mutations at ITGB3 gene have been identified. We aimed to determine whether there was any mutation in the ITGA2B and ITGB3 genes, and a correlation between clinical phenotype and genotype in Turkish GT patients. We examined 20 patients with GT followed at the Department of Pediatric Hematology, Meram Faculty of Medicine, for Clinical and Laboratory Findings and Molecular Genetic Analysis. Peripheral blood was collected from patients, and a written informed consent for genetic analysis was obtained from parents. DNA was isolated from by proteinase K and phenol/chloroform extraction. ITGA2B and ITGB3 genes were screened by polymerase chain reaction. There were 12 females and 8 males with a median age of 15.25 years. Major clinical presentations of these patients were mucocutaneous bleedings. The most common bleeding type was epistaxis (85%). Life-threatening bleedings were seen in five patients. Seven (35%) patients showed various mutations in the ITGA2B or ITGB3 genes. We detected four novel mutations in three different regions and two mutations defined previously within the ITGA2B gene. These changes are at exon 4; c.570 T4G alteration, at exon 13 c.1277 T4A, c. 1291 T4G alterations, at exon 19 c.1921A4G alterations. And from the start point of exon 14, behind 107 bases, we detected a heterozygous alteration at Thymine to Guanine. According to PolyPhen Database Program and NCBI Multiple Alignment Tool Database, four transitions are conserved at evolutionary process, so we can say that these transitions are novel mutations. c. 468T4G alteration at exon 4 and c. 1378 T4A alteration at exon 13 were reported to HGMD previously. Screening the exons of the ITGB3 gene from the same patient groups, we reported a novel missense mutation at exon 5, at nucleotide 680. No correlation was found between clinical phenotype and genotype. These mutations were described for the first time in Turkish population, and all novel mutations are not defined previously. Furthermore, collaborative studies are needed for the population point of view.Öğe Ophthalmic manifestations in recently diagnosed childhood leukemia(Sage Publications Ltd, 2016) Bitirgen, Gulfidan; Belviranli, Selman; Caliskan, Umran; Tokgoz, Huseyin; Ozkagnici, Ahmet; Zengin, NazmiPurpose: To determine the prevalence and the pattern of ocular involvement in children with leukemia at the time of diagnosis. Methods: The data of patients with leukemia who underwent complete ophthalmic examination at the time of diagnosis between January 2005 and December 2014 were retrospectively reviewed. Demographic data, type of leukemia, ocular findings, blood parameters, and duration of follow-up were analyzed. Results: A total of 185 patients (111 male and 74 female) were included in the study, with a median age of 6.0 years (range 0.5-18.0 years) and a median follow-up time of 36.0 months (range 0.5-108.0 months). Ocular signs were present in 24.3% of the patients at the time of diagnosis and 37.8% of them were symptomatic. The prevalence of ocular involvement was 20.4% in patients with acute lymphocytic leukemia (ALL) and 36.4% in patients with acute myelocytic leukemia (AML) (p = 0.051). Fatality rate was significantly higher in subjects with AML compared with ALL (p = 0.019), but was not significantly different between patients with and without ocular involvement (p = 0.166). There were no significant differences in hemoglobin levels, white blood cell counts, or platelet counts between patients with ALL and AML. Platelet counts were significantly lower in patients with ocular signs compared with subjects without ocular involvement (p = 0.012), while hemoglobin levels and white blood cell counts did not differ significantly. Conclusions: Various ocular signs may be present at the time of diagnosis in childhood leukemia, even in patients without any symptoms. Routine ophthalmic examination should be performed in recently diagnosed children with leukemia.Öğe Paediatric systemic lupus erythematosus: A single referral centre experience(Pakistan Medical Assoc, 2021) Atas, Bulent; Bulut, Mustafa; Sap, Fatih; Yazar, Abdullah; Akin, Fatih; Poyraz, Necdet; Tokgoz, HuseyinIn this study, the clinical and laboratory findings, management and follow-up of 32 children with paediatric systemic lupus erythematosus (pSLE) were evaluated to determine the prognostic factors in pSLE. Of the 32 patients, 25 (78.1%) were females. Age at onset of symptoms and diagnosis in the patients were 147.6 +/- 49 months and 154.3 +/- 48 months, respectively. The most common symptom on admission were joint problems, seen in 25 (78.1%) patients. Haematological alterations were seen in 25 (78.1%) cases during follow-up. Lupus nephritis was diagnosed in 10 (31.2%) patients. Malar rash was seen in a total of 12 (37.5%) patients during follow up, however it had been noted in five (15.6%) patients on admission. Antinuclear antibody and anti-dsDNA were positive in all patients and 31 (96.8%) patients, respectively. Decreased complement 3 and 4 levels were noted in 23 (71.8%) patients. Antiphospholipid antibody was studied in 27 patients and it was found to be positive in 13 (48.1%) patients. In conclusion, based on our findings, we would like to emphasize that pSLE has a large and remarkable clinical and laboratory findings.Öğe Perfusion-weighted cranial MR imaging findings in a patient with hemophagocytic lymphohistiocytosis(Masson Editeur, 2013) Tokgoz, Serhat; Paksoy, Yahya; Tokgoz, Huseyin; Demir, Orhan; Mutluer, Muzaffer[Abstract Not Availabe]Öğe Persistent Nasal Bleeding Due to Nasal CPAP Application in 2 Premature Newborns Successfully Treated With Topical 'Ankaferd Blood Stopper''(Sage Publications Inc, 2011) Altunhan, Huseyin; Annagur, Ali; Tokgoz, Huseyin; Caliskan, Umran; Ors, Rahmi[Abstract Not Availabe]Öğe Plasma leptin, neuropeptide Y, ghrelin, and adiponectin levels and carotid artery intima media thickness in epileptic children treated with valproate(Springer, 2012) Tokgoz, Huseyin; Aydin, Kursad; Oran, Bulent; Kiyici, AyselWeight gain is a common side effect of valproate (VPA) treatment, although the mechanism is not clear. Abnormal weight gain and obesity are associated with dyslipidemia, hypertension, and atherosclerosis. Measurement of the common carotid artery intima media thickness (CAIMT) gives a picture of early arterial wall alterations and, currently, is considered a noninvasive marker of premature atherosclerosis. The aim of the present study was to evaluate plasma insulin, leptin, neuropeptide Y (NPY), ghrelin, and adiponectin levels in children with epilepsy treated with VPA and to evaluate these parameters for early atherosclerosis. Twenty prepubertal children with idiopathic epilepsy treated with VPA were enrolled in this study. Body mass index (BMI) and fasting insulin glucose ratio (FIGR) were calculated, and the plasma insulin, leptin, NPY, ghrelin, and adiponectin levels; the lipid profiles; and CAIMT were measured for all subjects before the treatment and after a follow-up period of 6 and 12 months. When pretreatment values were compared with those at the end of 6 and 12 months, the mean BMI values, plasma insulin, leptin, NPY levels, and FIGR were increased, whereas the plasma ghrelin and adiponectin levels, lipid profiles, and CAIMT did not change significantly at the end of 6 and 12 months. These results suggest that weight gain during VPA treatment may be related to increases in insulin, leptin, and NPY levels. Additionally, in this study, no increase in the risk for early atherosclerosis was determined by CAIMT in children with epilepsy treated with VPA.Öğe Posterior reversible encephalopathy syndrome in children: a case series(Aves, 2016) Emeksiz, Serhat; Kutlu, Nurettin Onur; Caksen, Huseyin; Alkan, Gulsum; Yikmaz, Hulya Seker; Tokgoz, HuseyinPosterior reversible encephalopathy syndrome is characterized by hypertension, seizure, headache, clouding of consciousness, and visual disturbance, and is diagnosed in the presence of typical lesions on magnetic resonance imaging. We retrospectively evaluated five patients who were diagnosed as having posterior reversible encephalopathy syndrome and followed up in Meram Medical Faculty, Pediatric Intensive Care and Hematology wards, between January 2010 and January 2014. We reviewed the demographic and clinical data, and neuroimaging findings. The primary diseases of the subjects included acute lymphocytic leukemia (n=2), Henoch-Scholein purpura (n=1), systemic lupus erythematous (n=1), and acute poststreptococcal glomerulonephritis (n=1). The mean age was 10 +/- 4.58 years (range, 5-14 years). Acute elevation of blood pressure was found in all patients (n=5). Initial neurologic manifestations included seizure, clouding of consciousness, headache, and visual disturbance. After the diagnosis was made through clinical evaluations and magnetic resonance imaging, complete clinical recovery was obtained in all patients with the appropriate therapeutic approach. In conclusion, posterior reversible encephalopathy syndrome should be considered in the differential diagnosis of patients who present with encephalopathy and underlying diseases such as nephritis, vasculitis, malignancy accompanied by hypertension, and a history of use of medication.Öğe Pulmonary Embolism in Childhood: A Multicenter Experience from Turkey(Galenos Publ House, 2022) Hangul, Melih; Kose, Mehmet; Pekcan, Sevgi; Caliskan, Umran; Tokgoz, Huseyin; Aslan, Ayse Tana; Eyuboglu, Tugba SismanlarBackground: Pulmonary embolism is a clinical condition caused by the obstruction of the pulmonary artery and its branches with endogenous, exogenous embolism, or local thrombus formation. It is a rare but potentially life-threatening event in the pediatric population. Pediatric pulmonary embolism has many unknown characteristics.Aims: To evaluate clinical features, genetic and acquired risk factors, diagnostic imaging, and treatment strategies with long-term results in children with pulmonary embolism.Study Design: A retrospective multicenter clinical trialMethods: Patients aged 0-18 years who were diagnosed with pulmonary embolism with computed tomography pulmonary angiography (CTPA) findings (intraluminal filling defect in the lobar or main pulmonary artery) in 3 university hospitals between 2006 and 2021 were included in the study. A form was created for data standardization, and variables were collected retrospectively through medical record review. In addition to the features given above, we also evaluated in situ pulmonary artery thrombosis (ISPAT) and patients' Wells scores. Follow-up CTPA results were evaluated for patient response to treatment. Complete recovery means that there were no lesions, incomplete recovery if there was still embolism, and no response if there was no change.Results: Twenty-four patients (female:13, male:11) were included in the study. The mean age was 13.5 years. All patients but one had at least one or more genetic or acquired risk factors. Factor V Leiden mutation (16.6%) was the most common genetic risk factor. Six of 16 patients with Doppler ultrasonography were diagnosed with ISPAT because there was no sign of thromboembolic thrombosis. Nine (41.6%) patients had a Wells score of >4 (pulmonary embolism clinically strong), and 15 (58.4%) patients scored <4 (pulmonary embolism clinically likely weak), indicating that an alternative diagnosis was more likely than pulmonary embolism (sensitivity %37.5). The mean follow-up period was 23 (+/- 17) months. Complete and incomplete recovery was observed in 15 (62.5%) and 7 (29.1%) patients, respectively, among the patients who underwent follow-up evaluation. No response was obtained in 2 patients (8.3%) who died.Conclusion: The Wells scoring system seems insufficient to diagnose pulmonary embolism in children and should be improved by adding new parameters. ISPAT may be more common in children with congenital heart disease and systemic disease.Öğe Reply from the authors of the article entitled Importance of accurate measurement of carotid intima media thickness for evaluating epileptic children treated with valproate(Springer, 2013) Tokgoz, Huseyin; Oran, Bulent; Aydin, Kursad[Abstract Not Availabe]Öğe Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience(Wiley, 2023) Korkmaz, Sevim Busra; Karaselek, Mehmet Ali; Aytekin, Selma Erol; Tokgoz, Huseyin; Reisli, Ismail; Guner, Sukru; Keles, SevgiSevere combined immunodeficiency (SCID) is an inborn errors of immunity (IEI) disorder characterized by impairment in the development and function of lymphocytes and could be fatal if not treated with hematopoietic stem cell transplant in the first 2 years of life. There are various diagnostic criteria for SCID among different primary immunodeficiency societies. We retrospectively evaluated clinical and laboratory findings of 59 patients followed up with the diagnosis of SCID at our clinic over the past 20 years in order to develop an algorithm that would help diagnosis of SCID for the countries where a high ratio of consanguineous marriage is present because these countries have not launched TREC assay in their newborn screening programs. The mean age at diagnosis was 5.80 +/- 4.90 months, and the delay was 3.29 +/- 3.99 months. The most common complaint and physical examination findings were cough (29.05%), eczematous rash (63%) and organomegaly (61%). ADA (17%), Artemis (14%), RAG1/2 (15%), MHC Class II (12%) and IL-2R (12%) deficiencies were the most common genetic defects. Lymphopenia (87.5%) was the most frequent abnormal laboratory finding and below 3000/mm(3) in 95% of the patients. The CD3(+) T cell count was 300/mm(3) and below in 83% of the patients. As a result, a combination of low lymphocyte count and CD3 lymphopenia for SCID diagnosis would be more reliable for countries with high rate of consanguineous marriage. Physicians should consider diagnosis of SCID in a patient presenting with severe infections and lymphocyte counts below 3000/mm(3) under 2 years of age.Öğe A Shwachman-Diamond Syndrome patient with AML and a del(10p) clone in bone marrow(Springer, 2013) Zamani, Ayse Gul; Tokgoz, Huseyin; Tuncez, Ebru; Caliskan, Umran; Acar, Aynur; Yildirim, Mahmut Selman[Abstract Not Availabe]Öğe A Special Chromosome Imbalance Jumping translocation of 1q in Burkitt Lymphoma(Gazi Univ, Fac Med, 2022) Turan, Betul; Goktas, Emine; Zamani, Ayse Gul; Tokgoz, Huseyin; Yildirim, Mahmut SelmanChromosome 1q gain that confers clonal expansion advantage to tumor cells has been reported in many solid tissue and hematological cancers, in many different forms; sometimes as a derivative chromosome, as isochromosome, or less frequently, due to an imbalance created by a jumping translocation. Although it is known that chromosome 1q gain provide the advantage of clonal expansion to the tumor cells and is relatively common in Burkitt lymphoma/leukemia, its detection in the form of jumping translocation is extraordinarily rare and results of JT containing 1q are controversial. Bone marrow cytogenetic examination performed on a case diagnosed with stage 4 Burkitt lymphoma/leukemia resulted in 46,XY,dup(1)(q21q42),t(8;14)(q24;q32)[5]/46,XY,der(6)t(1;6)(q21;q27),t(8;14)(q 24;q32)[4]/46,XY,t(8;14)(q24;q32), der(11)t(1;11)(q21;q23 )[2]/46,XY[3]. We present the clinical features of the case that was found to have 1q gain in the jumping translocation form to contribute to the literature.Öğe A Special Chromosome Imbalance Jumping translocation of 1q in Burkitt Lymphoma(Gazi Univ, Fac Med, 2022) Turan, Betul; Goktas, Emine; Zamani, Ayse Gul; Tokgoz, Huseyin; Yildirim, Mahmut SelmanChromosome 1q gain that confers clonal expansion advantage to tumor cells has been reported in many solid tissue and hematological cancers, in many different forms; sometimes as a derivative chromosome, as isochromosome, or less frequently, due to an imbalance created by a jumping translocation. Although it is known that chromosome 1q gain provide the advantage of clonal expansion to the tumor cells and is relatively common in Burkitt lymphoma/leukemia, its detection in the form of jumping translocation is extraordinarily rare and results of JT containing 1q are controversial. Bone marrow cytogenetic examination performed on a case diagnosed with stage 4 Burkitt lymphoma/leukemia resulted in 46,XY,dup(1)(q21q42),t(8;14)(q24;q32)[5]/46,XY,der(6)t(1;6)(q21;q27),t(8;14)(q 24;q32)[4]/46,XY,t(8;14)(q24;q32), der(11)t(1;11)(q21;q23 )[2]/46,XY[3]. We present the clinical features of the case that was found to have 1q gain in the jumping translocation form to contribute to the literature.Öğe Spontaneous Rupture of the Spleen in a Patient With Systemic Lupus Erythematosus Initially Presented as Evans Syndrome(Lippincott Williams & Wilkins, 2014) Tokgoz, Huseyin; Caliskan, Umran; Atas, Bulent; Ozbek, Orhan; Tavil, BetulBackground: Although splenic abnormalities are common in patients with lupus, spontaneous rupture of spleen is extremely rare. Observations: A 15-year-old boy with new-onset Evans syndrome subsequently diagnosed as systemic lupus erythematosus developed spontaneous rupture of spleen during the course of his illness. Despite the severe thrombocytopenia, he was managed conservatively with gradual regression of hematoma without further complication. Conclusions: Splenic rupture may occur spontaneously in the course of systemic lupus erythematosus. We conclude that conservative treatment of splenic rupture may be preferred especially in immunocompromised patients to avoid surgical complications.Öğe Successful use of fondaparinux in a child with heparin-induced thrombocytopenia(Lippincott Williams & Wilkins, 2012) Tokgoz, Huseyin; Caliskan, Umran; Demir, MuzafferHeparin-induced thrombocytopenia (HIT) is a well described side effect of heparin therapy. A 12-year-old boy developed deep-vein thrombosis. Risk factors for initial thrombosis are antiphospholipid syndrome and heterozygous mutation for prothrombin G20210A. Anticoagulant therapy with warfarin for 12 months was effective, but discontinuation of warfarin after 12 months resulted in recurrence of thrombosis. Unfractionated heparin (UFH) was initiated during the acute period, but heparin-induced thrombocytopenia developed. Transition from UFH to fondaparinux resulted in successful anticoagulation for a period of platelet recovery. We report a case of HIT developing with a background of prothrombotic genetic risk factors and antiphospholipid syndrome. This case study highlights several difficulties in pediatric HIT cases. Blood Coagul Fibrinolysis 23: 769-771 (C) 2012 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.Öğe Three Novel Calreticulin Mutations in Two Turkish Patients(Galenos Publ House, 2017) Hancer, Veysel Sabri; Tokgoz, Huseyin; Guvenc, Serkan; Caliskan, Umran; Buyukdogan, Murat[Abstract Not Availabe]
