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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 Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry(Wiley, 2019) Karapinar, Deniz Yilmaz; Patiroglu, Turkan; Metin, Ayse; Caliskan, Umran; Celkan, Tiraje; Yilmaz, Baris; Karakas, ZeynepBackground Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might be more frequent. Method Two hundred and sixteen patients with severe congenital neutropenia from 28 different pediatric centers in Turkey were registered. Results The most frequently observed mutation was HAX1 mutation (n = 78, 36.1%). A heterozygous ELANE mutation was detected in 29 patients (13.4%) in our cohort. Biallelic mutations of G6PC3 (n = 9, 4.3%), CSF3R (n = 6, 2.9%), and JAGN1 (n = 2, 1%) were also observed. Granulocyte colony-stimulating factor treatment was given to 174 patients (80.6%). Two patients died with infectious complications, and five patients developed myelodysplastic syndrome/acute myeloblastic leukemia. The mean (+/- mean standard error) follow-up period was 129.7 +/- 76.3 months, and overall survival was 96.8% (CI, 94.4-99.1%) at the age of 15 years. In Turkey, severe congenital neutropenia mostly resulted from the p W44X mutation in the HAX1 gene. Conclusion In Turkey, mutation analysis should be started with HAX1, and if this is negative, ELANE and G6PC3 should be checked. Because of the very high percentage of consanguineous marriage, rare mutations should be tested in patients with a negative mutation screen.Öğe Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene(Turkish J Pediatrics, 2016) Goktrurk, Bahar; Reisli, Ismail; Caliskan, Umran; Oleaga-Quintas, Carmen; Deswarte, Caroline; Turul-Ozgur, Tuba; Burgucu, DurmusClinical disease caused by weakly pathogenic mycobacterial species, which is known as Mendelian susceptibility to mycobacterial disease (MSMD), is a rare entity. IFN-gamma and IL-17 production are defective due to insufficient response to IL-2 and IL-23 in IL-12R beta 1 deficiency; so this also causes tendency to intracellular microorganisms and candidal diseases. Here, we present a patient who suffers IL-12R beta 1 deficiency caused by a novel bi-allelic mutation with recurrent salmonellosis, mycobacterial, fungal infections and remained asymptomatic during 13 months of follow-up after hIFN-gamma treatment. In addition she had hemolytic anemia and midline defects like cleft lip and palate which have not been reported in a patient with MSMD in the literature prior to this case report. In conclusion, diagnosis of MSMD should be kept in mind in patients with recurrent salmonellosis, mycobacterial and fungal infections especially in countries with a high consanguinity rate.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 Novel plasminogen gene mutations in Turkish patients with type I plasminogen deficiency(Lippincott Williams & Wilkins, 2016) Donmez-Demir, Buket; Celkan, Tiraje; Sarper, Nazan; Deda, Gulhis; Ince, Elif; Caliskan, Umran; Ozturk, GulyuzThe plasminogen (Plg) protein is the inactive proenzyme form of plasmin that dissolves fibrin thrombi by a process called fibrinolysis. It has been shown that homozygous or compound-heterozygous deficiency of this protein is a major cause of a rare inflammatory disease affecting mainly mucous membranes found in different body sites. In this study, five individual Turkish patients and nine Turkish families with type 1 Plg deficiency were investigated for PLG gene mutations. All of the coding regions of the PLG gene mutations were screened for mutations using denaturing high-pressure liquid chromatography (DHPLC). Samples showing a different DHPLC profile were subjected to DNA sequencing analysis. Here, we described five novel mutations namely, Cys49Ter, +1 IVS6 G>A, Gly218Val, Tyr283Cys, and Gly703Asp. Previously identified five nonsynonymous (Lys38Glu, Glu180Lys, Gly420Asp, Asp453Asn, Pro763Ser), five synonymous (330 C>T, 582 C>T, 771 T>C, 1083 A>G, 2286 T>G), and a 3' untranslated region (3' UTR) mutation (c.*45 A>G) were also reported in this present study. In this study, we have identified a total of eight mutations, five of which are novel. The mutations/polymorphisms identified in eight of the patients do not explain the disease phenotype. These cases probably carry other pathological mutations (homozygous or compound heterozygous) that cannot be detected by DHPLC. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved.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 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 Pilomatrixoma in childhood(Medknow Publications & Media Pvt Ltd, 2014) Kose, Dogan; Ciftci, Ilhan; Harmankaya, Ismail; Ugras, Serdar; Caliskan, Umran; Koksal, YavuzContext: Pilomatrixoma is a benign tumor of the skin. Malignant transformation can be seen rarely in the small percentage. Aim: The aim of the following study is to attract attention to this tumor in the differential diagnosis because if it is not kept in mind it leads to both unnecessary interventions and treatments for the patient. Patients and Methods: From January 2006 to December 2012, 8 patients with pilomatrixoma were evaluated retrospectively. Results: A total of 8 pediatric pilomatrixoma patients charts were reviewed retrospectively. None of the patients had familial feature. Of 8 patients 4 (50%) were male and 4 (50%) were female. The patients age ranged from 2-18 years with a median age 11.5 years. All of the patients were admitted with the complaint of swelling at the lesion site. Two patients have multiple lesions, one of them has two and other has three lesions. A total of 11 lesion were detected in our 8 patients that 5 of them were located upper extremities (46%), 3 of them cervical region (27%), 2 of them on occipital region (18%) and 1 of them in the sacral region (9%). All lesions were excised completely. Until now, no patient had evidence of recurrence or malignant disease. Conclusion: As a result pilomatrixoma is a benign tumor, with atypical forms and unfortunately, no tumor-specific diagnostic feature except of a careful histopathological examination is available.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 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 Spectrum of the Mutations in Bernard-Soulier Syndrome(Wiley, 2014) Savoia, Anna; Kunishima, Shinji; De Rocco, Daniela; Zieger, Barbara; Rand, Margaret L.; Pujol-Moix, Nuria; Caliskan, UmranBernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb-IX-V complex, a platelet receptor for von Willebrand factor (VWF). Most of the mutations identified in the genes encoding for the GP1BA (GPIb alpha), GP1BB (GPIb beta), and GP9 (GPIX) subunits prevent expression of the complex at the platelet membrane or more rarely its interaction with VWF. As a consequence, platelets are unable to adhere to the vascular subendothelium and agglutinate in response to ristocetin. In order to collect information on BSS patients, we established an International Consortium for the study of BSS, allowing us to enrol and genotype 132 families (56 previously unreported). With 79 additional families for which molecular data were gleaned from the literature, the 211 families characterized so far have mutations in the GP1BA (28%), GP1BB (28%), or GP9 (44%) genes. There is a wide spectrum of mutations with 112 different variants, including 22 novel alterations. Consistent with the rarity of the disease, 85% of the probands carry homozygous mutations with evidence of founder effects in some geographical areas. This overview provides the first global picture of the molecular basis of BSS and will lead to improve patient diagnosis and management. (C) 2014 Wiley Periodicals, Inc.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]Öğe Traumatic hyphema in a patient with severe hemophilia A: Clinical features and management(Sage Publications Ltd, 2021) Belviranli, Selman; Ozkagnici, Ahmet; Tokgoz, Huseyin; Bitirgen, Gulfidan; Caliskan, UmranPurpose: To describe a case of traumatic hyphema in a patient with severe hemophilia A. Case: We present a case of a 16-year-old boy with severe hemophilia A who presented to our ophthalmology department with total hyphema and elevated intraocular pressure 3 days after a history of blunt ocular trauma on his right eye. Due to the persistent intraocular pressure elevation and total hyphema despite medical intervention, an early anterior chamber washout was performed with the replacement of factor VIII preoperatively and postoperatively. Rebleeding or any other complications were not experienced during surgery or postoperatively. At the first postoperative week, 20/20 visual acuity and a normal intraocular pressure without antiglaucoma medication was retained and remained stable during the 6-month follow-up. Conclusion: In such cases with hemophilia A, traumatic hyphema, and intraocular pressure elevation despite medical intervention, an early surgical clot removal under intense factor VIII replacement could be performed. In the early postoperative period, factor replacement should be resumed in order to avoid re-bleeding.Öğe Variable presentation of primary immune deficiency: Two cases with CD3 gamma deficiency presenting with only autoimmunity(Wiley, 2013) Tokgoz, Huseyin; Caliskan, Umran; Keles, Sevgi; Reisli, Ismail; Sanchez Guiu, Isabel; Morgan, Neil V.Background CD3 chain expression defects including CD3 gamma, epsilon, delta, and zeta chain subunits, are autosomal recessive inherited severe combined immunodeficiencies (SCID). The phenotype is usually T-B+NK+ SCID with lymphopenia where the clinical findings may be mild (CD3) or severe (CD3, epsilon, ) owing to the underlying molecular defect. There is limited information about the disease in literature. Methods Here, we present two siblings from non-consanguineous family with autoimmunity including Evans syndrome, autoimmune hepatitis, nephrotic syndrome, and Hashimoto's thyroiditis and with no previous history of infections. To define the molecular basis of the disease, we performed linkage analysis around the CD3 receptor cluster and found consistent linkage to this region. Results The patient one displayed low TCR expression, low IgG, low IgA, low IgM, low CD3, low CD4, low CD8. The patient two also displayed low TCR expression and low anti-HBs titer. We went onto identify a homozygous splicing mutation (IVS2-1G>C) in the two affected individuals in the CD3 gene. Discussion To date, only four cases have been reported with CD3 deficiency. Occasionally, the patients present with only autoimmunity including autoimmune hemolytic anemia, vitiligo, Hashimoto's thyroiditis, and autoimmune enteropathy. However, Evans syndrome, autoimmune hepatitis, and nephrotic syndrome have not been reported in previous cases. We believe that our cases will contribute to the literature.
