Browsing by Author "Oymak Y."
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Item Congenital amegakaryocytic thrombocytopenia: Three case reports from patients with different clinical diagnoses and somatic abnormalities(Lippincott Williams and Wilkins, 2015) Yildirim A.T.; Güneş B.T.; Oymak Y.; Yaman Y.; Özek G.; Carti Ö.; Yeşilipek A.; Vergin C.The congenital amegakaryocytic thrombocytopenia (CAMT) is a syndrome characterized by preservation of granulocytic and erythroid cells during genesis, with a gradual or progressive decrease in the number of megakaryocytic series of cells in the bone marrow. At later times, most patients develop aplastic anemia. It is important to rule out specific causes of thrombocytopenia that develop in the early stages of CAMT. Typically, there are no specific somatic abnormalities that accompany this deadly disease. Here we present three CAMT cases that presented with different clinical diagnoses, with various physical anomalies in two of those cases. The first patient was examined because of a cytomegalovirus infection. The second patient had been referred with a suspected neonatal alloimmune thrombocytopenia, whereas the third patient presented with chronic immune thrombocytopenic purpura. Subsequently, all three patients were diagnosed with CAMT. Two of the patients had physical anomalies. In particular, the first patient had a duplex urinary system. To our knowledge, this is the first patient with CAMT to have a duplicated collecting sysem. The second patient had a secundum atrial septal defect, an atypical facial appearance, and growth retardation. Since CAMT could also be observed outside the neonatal period, the differential diagnosis for thrombocytopenia should be considered for all age groups. Moreover, it should be considered that CAMT may also be accompanied with somatic abnormalities. © 2015 Wolters Kluwer Health, Inc.Item Comparing the quality of life of patients with hemophilia and juvenile idiopathic arthritis in which chronic arthropathy is a common complication(Lippincott Williams and Wilkins, 2015) Oymak Y.; Kaygusuz A.; Turedi A.; Yaman Y.; Eser E.; Cubukcu D.; Vergin C.Introduction: Hemophilia is a genetic disorder in which recurrent joint bleeding causes arthropathy. Inflammation and degeneration play roles in the pathogenesis of hemophilic arthropathy. Patients with juvenile idiopathic arthritis (JIA) experience a similar inflammatory degenerative joint disease. A comparison of different patients with common pathogenetic features may identify unique features helpful in terms of the follow-up. Aim: We compared the quality of life (QoL) of patients with hemophilia and JIA, and healthy controls, using a generic QoL scale, Kidscreen and Disabkids Questionnaires (KINDL). Differences among groups were evaluated in terms of sociodemographic characteristics and clinical parameters affecting the QoL. Methods: We included 33 hemophilia patients, 19 JIA patients, and 32 healthy individuals aged 4 to 18 years. Sociodemographic characteristics (the age, the maternal educational status, the place of residence, the size of the household, the household income, divorced parents) were noted, and the KINDL was administered to all participants. Clinical parameters associated with arthropathy (the functional independence score [FISH], the hemophilia joint health score [HJHS], the arthropathic joint count, and the painful joint count) were documented. Differences in frequencies and medians among the groups were evaluated using the w2, the Mann- Whitney U, and the Kruskal-Wallis tests. Results: All KINDL dimensions were above 50, reflecting "good conditions" in the 2 patient groups. No difference between patients with hemophilia and JIA was evident in terms of the clinical parameters of FISH, the HJHS, or the arthropathic or painful joint counts (P>0.05). Sociodemographically, only the frequency of literate mothers was lower in patients with hemophilia than in those with JIA and healthy controls (P=0.03). Patients with JIA scored more higher on the KINDL dimension of chronic illness than those with hemophilia (P=0.02). The FISH score correlated with the total QoL score in both patients with hemophilia and JIA (r=0.39, P=0.03 and r=0.48, P=0.04, respectively). Conclusions: Although no difference was evident between the patient groups in terms of clinical parameters associated with arthropathy, JIA patients coped better with illness than those with hemophilia. JIA patients had a higher proportion of literate mothers than hemophilia patients; this may affect a patient's ability to cope with issues relating to chronic illness. Implementation of an educational program for mothers of hemophilia patients, during follow-up, may improve the patient's QoL. Also, hemophilia patients should be assisted to improve their QoL in the dimensions of self-esteem and schooling. Lastly, the evaluation of functional disability by FISH in hemophilia patients is important because the FISH score correlated with the total QoL score, as revealed by KINDL. In JIA patients also, functional disabilities caused by arthropathy affected the QoL. Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.Item Thrombolysis with Systemic Recombinant Tissue Plasminogen Activator in Children: A Multicenter Retrospective Study; [Çocuklarda Sistemik Rekombinant Doku Plazminojen Aktivatörü ile Tromboliz: Çok Merkezli Bir Retrospektif Çalışma](Turkish Society of Hematology, 2021) Zengin E.; Sarper N.; Erdem A.Y.; Al I.O.; Evim M.S.; Yaralı N.; Belen B.; Akçay A.; Yıldırım A.T.; Karapınar T.H.; Güneş A.M.; Gelen S.A.; Ören H.; Olcay L.; Baytan B.; Gülen H.; Öztürk G.; Orhan M.F.; Oymak Y.; Akpınar S.; Tüfekçi Ö.; Albayrak M.; Güneş B.T.; Canpolat A.; Özbek N.Objective: This study aimed to evaluate systemic thrombolysis experiences with recombinant tissue plasminogen activator (rtPA). Materials and Methods: Retrospective data were collected from 13 Turkish pediatric hematology centers. The dose and duration of rtPA treatment, concomitant anticoagulant treatment, complete clot resolution (CCR), partial clot resolution (PCR), and bleeding complications were evaluated. Low-dose (LD) rtPA treatment was defined as 0.01-0.06 mg/kg/h and high-dose (HD) rtPA as 0.1-0.5 mg/kg/h. Results: Between 2005 and 2019, 55 thrombotic episodes of 54 pediatric patients with a median age of 5 years (range: 1 day to 17.75 years) were evaluated. These patients had intracardiac thrombosis (n=16), deep vein thrombosis (DVT) (n=15), non-stroke arterial thrombosis (n=14), pulmonary thromboembolism (PE) (n=6), and stroke (n=4). The duration from thrombus detection to rtPA initiation was a median of 12 h (range: 2-504 h) and it was significantly longer in cases of DVT and PE compared to stroke, non-stroke arterial thrombosis, and intracardiac thrombosis (p=0.024). In 63.6% of the episodes, heparin was initiated before rtPA treatment. LD and HD rtPA were administered in 22 and 33 of the episodes, respectively. Concomitant anticoagulation was used in 90% and 36% of the episodes with LD and HD rtPA, respectively (p=0.0001). Median total duration of LD and HD rtPA infusions was 30 h (range: 2-120 h) and 18 h (2-120 h), respectively (p=0.044). Non-fatal major and minor bleeding rates were 12.5% and 16.7% for LD and 3.2% and 25.8% for HD rtPA, respectively. At the end of the rtPA infusions, CCR and PCR were achieved in 32.7% and 49.0% of the episodes, respectively. The most successful site for thrombolysis was intracardiac thrombosis. HD versus LD rtPA administration was not correlated with CCR/PCR or bleeding (p>0.05). Conclusion: Systemic thrombolytic therapy may save lives and organs effectively if it is used at the right indications and the right times in children with high-risk thrombosis by experienced hematologists with close monitoring of recanalization and bleeding. © 2021, Turkish Society of Hematology. All rights reserved.Item Central nervous system thrombosis in pediatric acute lymphoblastic leukemia in Turkey: A multicenter study(John Wiley and Sons Inc, 2023) Guzelkucuk Z.; Karapınar D.Y.; Gelen S.A.; Tokgoz H.; Ozcan A.; Ay Y.; Bahadır A.; Ozbek N.Y.; Oren A.C.; Ayhan A.C.; Akyay A.; Akıncı B.; Karadas N.; Unuvar A.; Oren H.; Fettah A.; Kaya Z.; Isık B.; Eker İ.; Karaman S.; Yıldırım A.T.; Orhan M.F.; Oymak Y.; Timur C.; Yazici N.; Simsek A.; Karakurt N.; Toret E.; Evim M.S.Background: In 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. Procedure: Pediatric patients who developed CNS thrombosis during ALL treatment from 2010 to 2021 were analyzed retrospectively in 25 different Pediatric Hematology Oncology centers in Türkiye. 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. Results: Data 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%. Conclusion: Cerebral 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. © 2023 Wiley Periodicals LLC.Item Successful Treatment of a Child with Hemoglobin Hammersmith with Hematopoietic Stem Cell Transplantation(Taylor and Francis Ltd., 2023) Yıldırım A.T.; Gülen H.; Türkmen H.; Özek G.; Oymak Y.; Durmaz B.; Karaca E.Hemoglobin (Hb) Hammersmith, formed by serine substitution for phenylalanine at residue 42 in the beta-globin chain, is a very rare variant of unstable hemoglobin with low oxygen affinity. For patients with hemoglobinopathies, it is well-established that hematopoietic stem cell transplantation provides a complete cure, but the literature on its role for those with Hb Hammersmith is limited. A seven-month-old girl who was examined for anemia and splenomegaly was followed up for congenital hemolytic anemia. The patient with visible cyanosis of the lips and whose p50 was low in blood gas was diagnosed with Hb Hammersmith through the DNA sequence analysis. During the follow-up, frequent blood transfusions had to be given due to anemia aggravated by infections. Following a successful hematopoietic stem cell transplant from an HLA-matched sibling, the patient completely recovered from Hb Hammersmith. The case is presented because of its rarity. © 2023 Informa UK Limited, trading as Taylor & Francis Group.Item Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis(John Wiley and Sons Inc, 2024) Isik E.; Aydinok Y.; Albayrak C.; Durmus B.; Karakas Z.; Orhan M.F.; Sarper N.; Aydın S.; Unal S.; Oymak Y.; Karadas N.; Turedi A.; Albayrak D.; Tayfun F.; Tugcu D.; Karaman S.; Tobu M.; Unal E.; Ozcan A.; Unal S.; Aksu T.; Unuvar A.; Bilici M.; Azik F.; Ay Y.; Gelen S.A.; Zengin E.; Albudak E.; Eker I.; Karakaya T.; Cogulu O.; Ozkinay F.; Atik T.Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA. Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study. Molecular analysis was performed using two different clinical exome panels in 130 patients, and whole-exome sequencing in nine patients. Exome-based CNV calling was incorporated into the traditional single-nucleotide variant and small insertion/deletion analysis pipeline for NGS data in 92 cases. In four patients from the same family, the PK Gypsy variant was investigated using long-range polymerase chain reaction. Results: Molecular diagnosis was established in 86% of the study group. The most frequently mutated genes were SPTB (31.7%) and PKLR (28.5%). CNV analysis of 92 cases revealed that three patients had different sizes of large deletions in the SPTB and six patients had a deletion in the PKLR. Conclusions: In this study, NGS provided a high molecular diagnostic rate in cases with rare CHA. Analysis of the CNVs contributed to the diagnostic success. © 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.Item Sirolimus is effective and safe in childhood relapsed-refractory autoimmune cytopenias: A multicentre study(John Wiley and Sons Inc, 2024) Acar S.O.; Tahta N.; Al I.O.; Erdem M.; Gözmen S.; Karapınar T.H.; Kılınç B.; Celkan T.; Kirkiz S.; Koçak Ü.; Ören H.; Yıldırım A.T.; Arslantaş E.; Ayhan A.C.; Oymak Y.Autoimmune cytopenias are a heterogeneous group of disorders characterized by immune-mediated destruction of haematopoietic cell lines. Effective and well-tolerated treatment options for relapsed-refractory immune cytopenias are limited. In this study, the aim was to evaluate the efficacy and safety of sirolimus in this disease group within the paediatric age group. The study enrolled patients in the paediatric age group who used sirolimus with a diagnosis of immune cytopenia between December 2010 and December 2020, followed at six centres in Turkey. Of the 17 patients, five (29.4%) were treated for autoimmune haemolytic anaemia (AIHA), six (35.2%) for immune thrombocytopenic purpura (ITP) and six (35.2%) for Evans syndrome (ES). The mean response time was 2.7 months (range, 0–9 months). Complete response (CR) and partial response (PR) were obtained in 13 of 17 patients (76.4%) and nonresponse (NR) in four patients (23.5%). Among the 13 patients who achieved CR, three of them were NR in the follow-up and two of them had remission with low-dose steroid and sirolimus. Thus, overall response rate (ORR) was achieved in 12 of 17 patients (70.5%). In conclusion, sirolimus may be an effective and safe option in paediatric patients with relapsed-refractory immune cytopenia. © 2024 The Scandinavian Foundation for Immunology.