Her yýl üreme çaðýnda çeþitli malin hematolojik hastalýklara yakalanan hasta sayýsý artmaktadýr. Bu hastalar gonadotoksik etkileri olabilen kemoterapi, radyoterapi ve çeþitli tedaviler almaktadýrlar. Hastalarýn beklenen yaþam süreleri ise çeþitli tedavi seçeneklerinin yardýmý ile hýzla artmaktadýr. Bu nedenle giderek artan sayýda hasta, ebeveynleri ve hastalarýn eþleri tedavi sonrasý hastanýn fertilite potansiyeli üzerine endiþelerini ifade etmektedirler. Bu derlemede güncel fertilite koruyucu tedavi seçenekleri ve fertilite prezervasyonunun geleceði konusunda bilgi vermek amaçlandý.

The number of patients of reproductive age diagnosed with various malignant hematological diseases increases every year. These patients undergo chemotherapy, radiotherapy, and various other treatments that may have gonadotoxic effects. The life expectancy of these patients is increasing rapidly due to the variety of treatment options. As such, an increasing number of patients—as well as their parents and spouses—express their concerns about the patient’s fertility post treatment. In the present review it was aimed to provide an overview of current fertility-preserving treatment options and the future of fertility preservation.

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AMAÇ: Akut miyeloid lösemi (AML) eriþkinde en sýk görülen akut lösemidir. AML’de mortaliteyi yol açan en önemli sebeplerden biri pulmoner olaylardýr. Bu retrospektif tek merkezli çalýþmanýn amacý taný anýnda ve kemoterapi sonrasý geliþen radyolojik akciðer bulgularýnýn hastalýðýn klinik gidiþi ve prognozu üzerine etkisinin araþtýrýlmasýdýr.
YÖNTEMLER: Çalýþmaya 278 AML hastasý dahil edildi. deðerlendirildi. Taný anýndaki ve kemoterapi sonrasý pulmoner bulgular, hastalara ait klinik ve radyolojik bulgular, laboratuvar verileri ve mikrobiyolojik kültür sonuçlarý ile deðerlendirildi.
BULGULAR: Pulmoner olaylar hastalarýn 53’ünde (%19) görüldü. Pulmoner bulgularý olan ve olmayan hastalarýn ortalama yaþlarý sýrasýyla 43.1±15.2 ve 38.8±16.3 olarak bulundu (p<0,001). Akciðer bulgularý ile cinsiyet, AML alt tipi ve LDH düzeyleri arasýnda iliþki saptanmadý. En sýk rastlanýlan pulmoner olay enfeksiyondu. Pulmoner olaylar hastalarýn %29’unda taný anýnda, %71’inde tedavi sonrasý gözlendi.
SONUÇ: Pulmoner olaylar ileri yaþtaki, nötropenik hastalarda taný anýnda daha sýk gözlendi. Taný anýnda pulmoner komplikasyonu bulunan AML’li hastalarda mortalite daha yüksek bulundu.

OBJECTIVE: Acute myeloid leukemia (AML) is the most common acute leukemia in adults. Pulmonary events are one of the commonest causes of mortality in AML. In this single center retrospective study aimed to evaluate the relationship between radiological findings of pulmonary at presentation and post chemotherapy on prognosis and clinical outcome in a group of AML patients.
METHODS: The study included 278 AML patients. Clinical and radiological findings, laboratory findings, and microbiological culture results were evaluated. Pulmonary complications at presentation and post chemotherapy were compared.
RESULTS: Pulmonary complications were observed in 53 of the patients (19%). Mean age of the patients with and without pulmonary complications was 43.1 ± 15.2 years and 38.8 ± 16.3 years, respectively (P < 0.001). Pulmonary complications were not correlated with gender, AML subtype, or the serum lactate dehydrogenase (LDH) level. The most common cause of pulmonary complications was infection. Pulmonary complications were observed in 29% and 71% of the patients at presentation and post chemotherapy, respectively.
CONCLUSION: Pulmonary complications were observed more frequently at presentation in neutropenic AML patients of advanced age. The mortality rate was higher among the AML patients that had pulmonary complications at presentation.

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AMAÇ: Bu çalýþmada Türk çocukluk çaðý AML hastalarýnda sýk görülen kromozomal translokasyonlarýn ve FLT3 mutasyonlarýnýn belirlenmesi amaçlandý.
YÖNTEMLER: Yeni taný almýþ 50 hastada Real Time-PCR yöntemi ile t(15;17), t(8;21), inv(16) kromozomal translokasyonlarýnýn varlýðý ve PCR yöntemi ile FLT3 geni ITD tipi mutasyonlar ve D835 nokta mutasyonlarý varlýðý araþtýrýldý.
BULGULAR: Olgularýn 4’ünde t(15;17) (%8.0), 12’sinde t(8;21) (%24), 3’ünde inv(16) (%6.0) kromozomal düzensizlikleri, 2 olguda FLT3-ITD mutasyonu (%4.0), 1 olguda FLT3-D835 nokta mutasyonu (%2.0) varlýðý tespit edildi. t(15;17) pozitif AML M3’lü bir olguda hem FLT3-ITD hem de FLT3-D835 mutasyonlarý bakýmýndan heterozigotluk tespit edildi.
SONUÇ: Literatürden farklý olarak, olgumuzun daha uzun saðkalýmýnýn t(15;17) translokasyonunun mutasyonlu bireylerde iyi yönde düzeltici etkisinin neden olabileceðini düþündürmektedir. FLT3 geninde görülen bu düþük mutasyon oraný (4%) Türk popülasyonu için ilk sonuçlardan biridir.

OBJECTIVE: To identify the well-known common translocations and FLT3 mutations in childhood acute myelogenous leukemia (AML) patients in Turkey.
METHODS: The study included 50 newly diagnosed patients in which t(15;17), t(8;21), and inv(16) chromosomal translocations were identified using real-time PCR and FLT3 gene mutations were identified via direct PCR amplification PCR-RE analysis.
RESULTS: In all, t(15;17) chromosomal aberrations were observed in 4 patients (8.0%), t(8;21) chromosomal aberrations were observed in 12 patients (24.0%), inv(16) chromosomal aberrations were observed in 3 patients (6.0%), and FLT3-ITD mutations were observed in 2 patients (4.0%); FLT3-D835 point mutation heterozygosity was observed in only 1 patient (2.0%) patient.
CONCLUSION: Despite of the known literature, our case shows a better survival and this might be due to the complementation effect of the t(15;17) translocation. The lower mutation rate (4%) of FLT3 gene seems to be one of the first results for Turkish population.

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AMAÇ: Çalýþmada kordon kaný ile eriþkin baðýþçý kanlarýndan elde edilen eritrosit süspansiyonlarýnýn özelliklerini ve saklama sýrasýnda oluþan deðiþiklikleri izleyerek, kordon kanýndan elde edilen eritrosit süspansiyonlarýnýn çok düþük doðum aðýrlýklý yenidoðanlarda otolog bir transfüzyon kaynaðý olarak kullanýlabilirliðini deðerlendirmek amaçlanmýþtýr.
YÖNTEMLER: 30 yenidoðan (20 preterm, 10 term) kordon kaný ile 31 eriþkþin baðýþçý kaný toplandý. Hazýrlanan eritrosit süspansiyonlarý standard koþullarda saklanarak 1., 21. ve 35. günlerdepH, potasyum (K+), 2,3-BPG, adenozin trifosfat (ATP), hemoglobin, hematocrit, plazma Hb ve bakteriyel kontaminasyon bakýmýndan incelendi.
BULGULAR: Potasyum deðerlerinin zamanla artarak, hem kordon kaný hem de eriþkin kanlarýnda 1.-21. ve 1-35. günler arasýnda anlamlý farklar saptandý. Ýlk ve 21. Gün deðerlerinin kordon kanýnda eriþkin kanlarýndan daha yüksek olduðu saptandý. 2,3-BPG deðerleri kordon kaný ve eriþkin kanlarýnda anlamlý fark göstermedi.Saklamanýn 35. gününde hem kordon kaný hem de eriþkin kanlarýnda serbest Hb, ATP ve pH deðerlerinin ilk deðerlere gore anlamlý fark gösterdiði belirlendi.Bu parametreler açýsýndan kordon kaný ve eriþkin kaný gruplarý arasýnda da fark olduðu görüldü.
SONUÇ: Toplanan ve hazýrlanan kordon kaný eritrosit süspansiyonlarý yenidoðan dönemindeki transfüzyon gereksinimini kýsmen karþýlayabilir ve böylece allogeneik transfüzyonlarý azaltabilir. Saklama sýrasýnda oluþan hematolojik ve biyokimyasal deðiþiklikler eriþkin baðýþçý kanlarýndakilere benzerlik göstermekte olup yenidoðan metabolizmasý için bir risk oluþturacak düzeyde deðildir. Kordon kanýndan hazýrlanýp standart koþullarda saklanan eritrosit süspansiyonlarý çok düþük doðum aðýrlýklý yenidoðanlar için bir seçenek olabilir.

OBJECTIVE: This study aimed to compare the storage properties of red blood cell (RBC) concentrates of umbilical cord blood (UCB) and adult donor blood (ADB), and to evaluate the feasibility of UCB-RBC concentrate as an autologous source for blood transfusion in very low birth weight (VLBW) preterm neonates.
METHODS: In all, 30 newborn (10 preterm, 20 full term) UCB and 31 ADB units were collected. RBC concentrates were stored and compared with regard to pH, potassium (K+), 2,3-biphosphoglycerate (2-3-BPG), adenosine tri-phosphate (ATP), plasma Hb, and bacterial contamination on d 1, 21, and 35 of storage.
RESULTS: The K+ level increased with time and differed significantly between storage d 1 and 21, and between storage d 1 and 35 in both the UCB and ADB units. Initial and d 21 K+ levels were higher in the UCB units than in the ADB units. The 2,3-BPG level did not differ significantly between the UCB-PRC and ADB-PRC samples. After 35 d of storage both UCB-PRC and ADB-PRC samples exhibited significant differences from the initial free Hb, intracellular ATP, and pH values. Significant differences in intracellular ATP and pH were also observed between the UCB-PRC and ADB-PRC samples.
CONCLUSION: The volume of harvested and prepared UCB-PRC can be used for some of the blood transfusions required during the neonatal period and thus may decrease the number of allogeneic transfusions, especially in preterm newborns. The hematological and biochemical changes that occurred in UCB during storage were comparable with those observed in ADB, and do not pose a risk to the immature metabolism of neonates. UCB-RPC prepared and stored under standard conditions can be a safe alternative RBC source for transfusions in VLBW newborns.

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AMAÇ: Kemik iliði fibrozu, Philadelphia negatif miyeloproliferatif neoplazili (MPN) hastalarda morbidite ve mortaliteye yol açan ikinci en sýk komplikasyondur. Bu çalýþmanýn amacý MPN’li hastalarda taný anýnda kemik iliðinde görülen fibroz ile JAK2V617F mutasyonu arasýndaki iliþkinin araþtýrýlmasýdýr.
YÖNTEMLER: Çalýþmaya retrospektif olarak dahil edilen 149 MPN tanýlý hasta JAK2V617F mutasyonu ile kemik iliðindeki fibroz arasýndaki iliþki açýsýndan deðerlendirilmiþtir.
BULGULAR: Çalýþmaya alýnan hastalarýn %67.7’sinde JAK2 gen mutasyonuna rastlandý. Ancak JAK2V617Fmutasyonu ile kemik iliðindeki fibroz varlýðý ve derecesi arasýnda iliþki saptanmadý (sýrasýyla, p=0.552, ve p=0.65).
SONUÇ: MPN’de görülen kemik iliði fibrozunun altýnda JAK2V617F mutasyonu dýþýnda bazý moleküler mekanizma veya genetik bozukluklarýn yattýðý sonucuna varýlmýþtýr.

OBJECTIVE: Bone marrow fibrosis is the second most common complication causing morbidity and mortality in patients with Philadelphia negative myeloproliferative neoplasms (MPNs). The aim of this study was to investigate the association of JAK2V617F mutation with the bone marrow (BM) fibrosis at diagnosis in patients with MPNs.
METHODS: In total, 149 patients with MPNs were retrospectively evaluated to determine if there was an association between the histological grade of bone marrow fibrosis and JAK2V617F mutation.
RESULTS: In all, 67.7% of the patients carried the mutated JAK2 gene. The presence of JAK2V617F mutation was not associated with the occurrence of bone marrow fibrosis (P = 0.552) or its grade at diagnosis (P = 0.65).
CONCLUSION: Molecular mechanisms or genetic defects other than JAK2V617F may underlie the occurrence of bone marrow fibrosis in patients with MPNs.

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AMAÇ: Demir eksikliði anemisine eþlik eden trombositoz, geliþebilecek tromboembolizm için en önemli etken olarak görülmektedir. Artmýþ viskozite, tromboz riskini de arttýrabilir. Buradan hareketle, trombosit sayýsýndaki artýþýn da -reaktif trombositoz- plazma viskozitesini etkileyebileceði varsayýmýnda bulunduk. Demir eksikliði anemisi bulunan hastalarda, normal ve yüksek trombosit sayýsýnýn, plazma viskozitesi üzerindeki etkisini deðerlendirmeyi amaçladýk.
YÖNTEMLER: Yakýn zamanda demir eksikliði anemisi tanýsý alýp, daha herhangi bir tedavi baþlanmayan ve yaþlarý 18 ile 62 arasýnda deðiþen 53 kadýn hasta çalýþmaya dahil edilmiþtir. Grup 1, trombosit sayýsý < 400 x 109/L olan 33 hastadan oluþmaktadýr. Grup 2, trombosit sayýsý > 400 x 109/L olan 20 hastadan oluþmaktadýr. Plazma viskozite ölçümleri, Brookfield viscometer kullanýlarak yapýlmýþtýr.
BULGULAR: Ortalama plazma viskozitesi, Grup 1’de 1.05 ± 0.08 mPa.s. ve Grup 2’de ise 1.03 ± 0.06 mPa.s. olarak bulunmuþtur. Ýki grup arasýnda, ortalama plazma viskozitesinde istatistiksel bir fark yoktur. Grup 2’de lökosit sayýsý anlamlý olarak yüksek bulunmuþtur. Grup 1’de folik asid ve Grup 2’de ise vitamin B12 düzeyleri, diðer gruba göre anlamlý olarak yüksek saptanmýþtýr (p=0.011 ve p=0.033). Plazma viskozitesi, Grup 1’de eritrosit sedimentasyon hýzýyla doðru (r=0.512 p=0.002) ve Grup 2’de ise vitamin B12 düzeyi ile ters korelasyon göstermektedir (r=−0.480 p=0.032).
SONUÇ: Her iki grup arasýnda trombosit sayýsý bakýmýndan anlamlý bir fark olmasýna karþýn, plazma viskozitesinde istatistiksel bir fark bulunamamýþtýr. Bunun nedenleri olarak þunlar sayýlabilir: 1- Bu trombositler, “trombositemik” özellik taþýmamaktadýrlar. 2- Lökositlerle alakalý teoriye benzer þekilde, belki de ancak çok yüksek trombosit sayýsý -trombositemik olmasalar bile- plazma viskozitesini arttýrabilmektedir. 3- Sadece trombosit sayýsýný deðerlendirmek yeterli olmamakta, ek olarak eritrositlerin yapýsal özellikleri de hesaba katýlmalýdýr. 4- Viskoziteyi etkileyebilecek baþka hastalýklarýn dýþlanmasýna karþýn, fibrinojen, hiperlipidemi ve enflamatuvar sürecin de laboratuvar ve klinik olarak deðerlendirilmesi uygun olacaktýr.

OBJECTIVE: The accompanying thrombocytosis is referred to as the major factor associated with thromboembolism in iron deficiency anemia (IDA). Increased viscosity may increase the risk of thrombosis. We hypothesized that increased platelet count -with reactive thrombocytosis- might also affect plasma viscosity. We planned to evaluate the influence of normal and high platelet count on plasma viscosity in IDA patients.
METHODS: The patient population consisted of fifty-three newly diagnosed and untreated women aged between 18 and 62 years with IDA. Group 1 consisted of 33 patients, platelet levels below 400 x 109/L. Group 2 consisted of 20 patients, platelet levels above 400 x 109/L. Measurements of plasma viscosity were performed using Brookfield viscometer.
RESULTS: Mean plasma viscosity was found as 1.05 ± 0.08 mPa.s. in Group 1, and 1.03 ± 0.06 mPa.s. in Group 2. Mean plasma viscosity was not statistically different. White blood cell count was significantly higher in Group 2. Vitamin B12 levels were significantly higher in Group 2, while folic acid levels were higher in Group 1 (p=0.011 and p=0.033). Plasma viscosity was correlated with erythrocyte sedimentation rate (r=0.512 p=0.002) in Group 1 and inversely correlated with vitamin B12 (r=−0.480 p=0.032) in Group 2.
CONCLUSION: Despite the significant difference between groups in terms of platelet count, no significant difference was detected in plasma viscosity and this finding could be explained as the following; 1-These platelets were not thrombocythemic platelets; 2-Similar to the theory about leukocytes, higher platelet counts – even non-thrombocythemic – may increase plasma viscosity; 3-Evaluating platelet count alone is not sufficient and the associating red-cell deformability should also be taken into account; and 4-Although other diseases that could affect viscosity are excluded, some definitely proven literature criteria such as fibrinogen, hyperlipidemia, and the inflammatory process should also be evaluated by laboratory and clinical measures.

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AMAÇ: Antineoplastik kemoterapi uygulanan kanser hastalarýnýn hemen tamamýnda nötropeni geliþmektedir. Nötropenik dönemde birden fazla febril atak ortaya çýkabilmektedir. Bu çalýþmada, nötropenik hastalarda ilk febril atak sonrasýnda geliþen ikincil ataklarýn etiyolojik ve klinik özellikleri ile birlikte sekonder infeksiyon için risk faktörlerinin belirlenmesi amaçlanmýþtýr.
YÖNTEMLER: Ankara Üniversitesi Týp Fakültesi, Hematoloji Anabilim Dalý'nda çeþitli maligniteler nedeniyle 2004 Mayýs ve 2005 Mayýs tarihleri arasýnda kemoterapi uygulanan ve febril atak/ataklar geliþen hastalar çalýþmaya dahil edilmiþ ve bu hastalarýn kayýtlarý geriye dönük olarak taranmýþtýr. Kategorik deðiþkenler ki-kare testi, devamlý deðiþkenler ise Student’s test uygulanarak deðerlendirilmiþtir. Ýkincil febril atak için risk faktörlerini belirlemede lojistik regresyon analizi uygulanmýþtýr.
BULGULAR: Çalýþma periyodunda geliþen 259 febril nötropenik ataðýn 138’inde (%53) sekonder infeksiyon gözlemlenmiþtir. Sekonder infeksiyon geliþen hastalarýn %64.5’i erkek iken ortalama yaþ 40’dýr (17-76). Geliþen sekonder infeksiyonlarýn yaklaþýk %80’i klinik ya da mikrobiyolojik dökümente infeksiyonlardýr. Birincil ataðýn 4. gününde incelenen faktörler için lojistik regresyon analizi uygulandýðýnda; sekonder infeksiyon geliþimi için risk faktörleri olarak sanral venöz keter bulunmasý (odds oraný [OR], 3.01; p<0.001), altta yatan hastalýk olarak Akut Myeloid Lösemi (AML) olmasý (OR, 2.12; p=0.008), diare olmasý (OR, 4.59; p=0.005) ve ilk atakta invazif aspergilloz (ÝA) tanýsý bulunmasý (OR, 3.96; p=0.009) belirlenmiþtir.
SONUÇ: Sanral venöz kateter bulunmasý, altta yatan hastalýðýn AML olmasý, diare görülmesi ve ilk atakta ÝA geliþmiþ olmasý nötropenik hastalarda sekonder infeksiyon riskini artýrmaktadýr.

OBJECTIVE: Patients with neutropenia due to cancer chemotherapy are prone to severe infections. Cancer patients can experience >1 infectious episode during the same period of neutropenia. This study aimed to determine the etiological and clinical characteristics of secondary infectious episodes in cancer patients with febrile neutropenia and to identify the factors associated with the risk of secondary infectious episodes.
METHODS: All cancer patients that received antineoplastic chemotherapy at Ankara University, School of Medicine, Department of Hematology between May 2004 and May 2005 and developed neutropenia were included in the study. Data were collected using survey forms that were completed during routine infectious diseases consultation visits. Categorical data were analyzed using the chi-square test, whereas Student’s t-test was used for continuous variables. Multivariate logistic regression analysis was performed to identify independent predictors of secondary infections (SIs).
RESULTS: SIs were observed during 138 (53%) of 259 febrile neutropenic episodes. Of the 138 episodes, 89 (64.5%) occurred in male patients with a mean age of 40.9 years (range: 17-76 years). In total, 80% of the SIs were clinically or microbiologically documented. Factors on d 4 of the initial febrile episode were analyzed via a logistic regression model. The presence of a central intravenous catheter (OR: 3.01; P < 0.001), acute myeloid leukemia (AML) as the underlying disease (OR: 2.12; P = 0.008), diarrhea (OR: 4.59; P = 0.005), and invasive aspergillosis (IA) during the initial febrile episode (OR: 3.96; P = 0.009) were statistically significant risk factors for SIs.
CONCLUSION: Among the cancer patients with neutropenia in the present study, AML as the underlying disease, the presence of a central venous catheter, diarrhea, and IA during the initial febrile episode were risk factors for the development of SIs.

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AMAÇ: Bu çalýþma Orak Hücre Anemisi (OHA) tanýlý çocuk ve ergenlerde psikiyatrik sorunlarýn varlýðýný incelemeyi amaçlamýþtýr.
YÖNTEMLER: 4-18 yaþ arasý için Çocuk Davranýþ Kontrol Listesi (ÇDKL/4-18), Conners Ebeveyn Derecelendirme Ölçeði (CEDÖ), Conners Öðretmen Derecelendirme Ölçeði (CÖDÖ-R) ve Turgay DSM-IV’e dayalý Çocuk ve Ergen Davranýþ Bozukluklarý Tarama ve Derecelendirme Ölçeði, klinisyen ve ebeveyn formlarý (T-DSM-IV-Ö) 7-18 yaþ arasý OHA tanýlý 31 çocuðun ve 34 yaþ olarak eþlenmiþ demir eksikliði anemisi tanýlý kontrol grubunun bakým vericileri ve öðretmenlerine verildi.
BULGULAR: OHA tanýlý çocuk ve ergenler her 4 ölçekte de daha yüksek puanlar aldýlar. Ölçek alt puanlarýnda içe atým sorunlarý ve dikkat sorunlarý öne çýkýyordu.
SONUÇ: OHA tanýlý çocuk ve ergenlerin psikiyatrik sorunlar açýsýndan yüksek riskte olduðu görünmektedir. Olgulara düzenli psikolojik deðerlendirme yapýlmasý ve çocuk ve ergen psikiyatri kliniklerine refere edilmesi risk altýnda olan olgularýn zamanýnda tanýsý ve etkin tedavisine katký saðlayabilir.

OBJECTIVE: This study aimed to investigate the occurrence of psychiatric problems in children and adolescents with sickle cell disease (SCD).
METHODS: The Child Behavior Checklist for ages 4-18 years (CBCL/4-18), Conners’ Parent Rating Scale (CPRS), Conners’ Teacher Rating Scale (CTRS-R), and The Turgay DSM-IV Based Child and Adolescent Behavior Disorders Screening and Rating Scale, clinician and parent forms (T-DSM-IV-S) were given to the caregivers and teachers of 31 children with SCD aged between 7-18 years and the caregivers and teachers of 34 age matched controls with irondeficiency anemia.
RESULTS: The SCD patients had higher scores on all 4 of scales. Among the subscales, internalizing problems, and attention problems were more prominent in the SCD patients.
CONCLUSION: Children and adolescents with SCD appear to have an increased risk for psychiatric problems. Regular psychological evaluation and referral to child and adolescent psychiatry clinics may facilitate timely diagnosis and effective treatment of at-risk children and adolescents.

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Ailesel Hemofagositik Lenfohistiyositozis(AHL), genetik olarak oldukça heterojen bir hastalýktýr. Sýklýkla ateþ, hepatosplenomegali, sitopeni gibi bulgular görülebilir. Bu bulgular doðal katil hücreler ve sitotoksik T lenfositlerde fonksiyonel bozulma, makrofaj ve T lenfositlerde aktivasyon, proinflamatuar sitokinlerde artýþ ve hemofagositoz sonucu oluþur. AHL’de 5 ayrý genetik bölge tanýmlanmýþtýr. Tüm bu bölgelerin ortak özelliði granul ekzositoz yolaðý için kritik görev gören maddelerin yapýmýnda rol oynamalarýdýr. Bu makalede çok nadir perforin mutasyonuna sahip ve aðýr klinik tabloyla erken dönemde kaybedilen bir olgu sunulmuþtur. Hastada homozigot A665G mutasyonu bulundu. Hasta kýsa sure sonra kaybedildi. Sonraki gebelikte prenatal taný konuldu. Fetusda ayný mutasyonun heterozigotluðu gösterildi.

Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disease. Presentation of the disease such as primarily fever, hepatosplenomegaly, and cytopenia, which are the results of functional degradation in cytotoxic T-lymphocytes and natural killer cells, activation of macrophages and T-lymphocytes, over production of proinflammatory cytokines, and hemophagocytosis. In all, 5 genetic loci have been identified in FHL, and all known affected genes encode critical components of the granule exocytosis pathway, which is essential for the release of cytotoxic granules and proteases that are necessary for targeted cell death. Herein we present an FHL patient with a severe clinical course and a very rare perforin gene mutation. The patient was homozygous for A665G mutation. However, the child died in a short period of time. Prenatal diagnosis was performed in the family and the fetus was found to be heterozygous for the mutation.

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Priapizm orak hücre hastalýðý olan tüm erkeklerin yaklaþýk yarýsýnda ortaya çýkabilir ve tedavisinde henüz bir fikir birliði oluþmamýþtýr. Tedavinin baþarýsýz olmasý ve gecikme korporal fibrozise ve impotansa neden olur. Priapizm geliþen hastalarda en etkili giriþimsel yaklaþýmý önerebilmek için bu komplikasyonun tedavisinin en iyi þekilde bilinmesine gereklilik vardýr. Burada, orak hücre hastalýðý olan,72 saattir süregelen priapizm komplikasyonu olan 11 yaþýnda bir çocuk hastanýn cerrahi ve konvansiyonel giriþimler yetersiz kaldýktan sonra, otomatik eritrosit deðiþimi ve hiperbarik oksijen ile baþarýlý tedavisini bildiriyoruz.

Priapism affects up to 50% of all males with sickle cell disease, and there is no standard treatment. Delayed and unsuccessful treatment leads to corporal fibrosis and impotence. It is therefore necessary to determine the best treatment methods for this complication in order to offer effective interventions to all affected patients. Herein we report an 11-year-old patient with sickle cell disease that presented with priapism 72 h after onset, and was successfully treated with automated red cell exchange and hyperbaric oxygen following unsuccessful surgical and conventional interventions.

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Memenin primer non-Hodgkin lenfomalarý (NHL), meme dokusu malignitelerinin %0.04-0.53’ünü; ekstranodal lenfomalarýn ise %2.2’sini oluþturmaktadýr. B hücreli lenfomalarýn %7-8’ini mukoza iliþkili lenfoid doku (mucosaassociated lymphoid tissue-MALT) tipi lenfomalar, bunlarýn da %50’den fazlasýný primer gastrik MALT lenfomalar oluþturmaktadýr. Burada memede nadir görülen MALT lenfoma zemininde diffüz büyük B hücreli lenfomaya (DBBHL) dönüþen bir olgunun sunulmasý amaçlanmýþtýr. Sol memede þiþlik þikayeti ile baþvuran 69 yaþýndaki kadýn hastanýn yapýlan muayenesinde, sol meme üst dýþ kadranda saat 1 hizasýnda, areoladan 1 cm uzaklýkta 3x3 cm boyutlarýnda sert kitle tespit edildi. Yapýlan eksizyonel biyopsisinin patolojik incelemesinde DBBHL’ya progresyon gösteren MALT lenfoma tanýsý konuldu. Hasta evre II EA olarak evrelendi. Hastaya rituksimab, siklofosfamid, doksorubisin, vinkristin, prednizolon tedavisi planlandý (R-CHOP). Hastaya 6 kür R-CHOP ve sonrasýnda 2 kür R verildi. Yanýt deðerlendirmesi için çekilen pozitron emisyon tomografisi (PET)-BT ile tam remisyon saðlandýðý görüldü. Halen hastanýn takibine devam edilmektedir. Memenin malign tümörleri içerisinde meme lenfomalarý nadir görülmektedir. Meme lenfoma olgularýnýn en sýk görülen alt tipi DBBHL’dýr. Memede MALT lenfoma ise çok daha nadir görülmektedir. Memenin primer MALT lenfomasýnýn düþük dereceli lenfomadan, yüksek dereceliye dönüþüm ve nüks olasýlýðý nedeniyle dikkatli takibi gerekmektedir.

Primary non-Hodgkin’s lymphoma (NHL) of the breast constitutes 0.04%-0.53% of all malignancies and 2.2% of extra nodal lymphomas. In total, 7%-8% of all B-cell lymphomas are the mucosa-associated lymphoid tissue (MALT) type, of which up to 50% of primary gastric MALT lymphoma. Herein we present a patient with breast MALT lymphoma that transformed to diffuse large B-cell lymphoma (DLBCL). A 69-year-old female presented with a mass on her left breast. Physical examination showed a 3 × 3-cm mass located 1 cm from the areola on the upper lateral quadrant of the breast at the 1 o’clock position, which was fixed and firm. Excisional biopsy was performed and pathologic examination of the specimen showed MALT lymphoma transformation to DLBCL. The patient was staged as II-EA. The rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone (R-CHOP) protocol was scheduled as treatment. Following 6 courses of R-CHOP, 2 additional courses of rituximab were administered. Positron emission tomography (PET)-CT was done at the end of the treatment. PET showed that the patient was in complete remission. At the time this report was written, the patient was being followed-up at the outpatient clinic on a regular basis. Lymphoma of the breast is a rarity among malignant tumors of the breast. The most common type of lymphoma is DLBCL. Breast MALT lymphoma is extremely rare. Primary MALT lymphoma of the breast can transform from low grade to high grade and recurrence is possible; therefore, such patients should be monitored carefully for transformation.

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Eþ zamanlý miyeloid sarkomlu akut promiyelositik lösemi nadir bir klinik olaydýr. Burada ekstramedüller lösemik hücre birikimi nedeniyle spinal kord kompresyonu sonucunda bel aðrýsý ve bilateral bacak zayýflýðý ile gelen bir hastayý tanýmlýyoruz Kemik iliði aspiratýnda malign hücreler immünofenotipik bulgularý temelinde akut promiyelositik lösemiden þüphelenildi. Taný PML-RARα füzyon kopyalarýnýn varlýðýyla doðrulandý. MRG, vertebral cisimlerde çok sayýda hiperintens deðiþiklik ve beraberinde spinal kord kompresyonuna neden olan intraspinal kitleler gösterdi. Hastaya hemen radyoterapi baþlandý ve all-trans retinoik asit ve idarubisin ile tedavi edildi. Tekrar deðerlendirmede MRG tüm intraspinal kitlelerin tam olarak geçtiðini ve kemik lezyonlarýnýn çoðunun kaybolduðunu gösterdi. Tedavi sonrasý kemik iliði aspiratý tam hematolojik ve moleküler remisyon gösterdi. Bacaklarda motor güç 0/5’ten 5/5’e tam olarak iyileþti ancak T4 seviyesi altýndaki duyu kaybý devam etti.

Acute promyelocytic leukemia with concurrent myeloid sarcoma is a rare clinical event. Herein we describe a patient that presented with back pain and bilateral leg weakness caused by spinal cord compression due to extramedullary deposition of leukemic cells. Acute promyelocytic leukemia was suspected based on immunophenotypic findings of malignant cells in bone marrow aspirate. The diagnosis was confirmed by the presence of PML-RARα fusion copies. MRI showed multiple hyperintense changes on the vertebral bodies, together with intraspinal masses causing spinal cord compression. The patient immediately underwent radiotherapy, and was treated with all-trans retinoic acid and idarubicin. Reassessment MRI showed complete resolution of all intraspinal masses and the disappearance of most of the bony lesions. Post-treatment bone marrow aspirate showed complete hematological and molecular remission. The motor power of his legs fully recovered from 0/5 to 5/5; however, sensory loss below the T4 level persisted.

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Otuz bir yaþýnda leptomeningeal tutulumu olan Hodgkin’s Lenfoma (HL)’lý erkek hasta sunuldu. Hastada, ABVD (Adriamycin 25 mg/m2, bleomycin 10 mg/m2, vinblastine 6 mg/m2, dacarbazine 375 mg/m2 on days 1 and 15 of a 28-day cycle) tedavisinin ilk siklusundan sonra baþ dönmesi, ekstremitelerde güçsüzlük, el ve ayaklarda istemsiz kasýlma, inkontinans, baþ aðrýsý, ateþ, bulantý ve kusma geliþti. Magnetic resonance imaging (MRI)’da özellikle torakal vertebralarda (T3, T4, T9, T10-T12), infiltrasyon ile uyumlu alanlar görüldü. Lomber bölgede medulla spinalisin son kýsmýndan baþlayan, kauda equinadaki sinirlerde seperasyona sebep olan leptomeningeal tutulum görüldü. Sinir köklerinde ödem ile birlikte özellikle dural sakta kontrast madde tutulumu görüldü. Biz santral sinir sistemi tutulumu nadir görülen HL’da leptomeningeal tutulumu olan vakayý sunduk..

A 31-year-old male patient with Hodgkin’s lymphoma (HL) and leptomeningeal involvement presented to at Hematology Departments of Atatürk University. The patient developed dizziness, limb weakness, involuntary contractions of the hands and feet, incontinence, headache, fever, nausea, and vomiting following the first cycle of treatment with the ABVD protocol (adriamycin 25 mg m⎯2, bleomycin 10 mg m⎯2, vinblastin 6 mg m⎯2, and dacarbazine 375 mg m⎯2 on d 1 and 15 of a 28-d cycle). Magnetic resonance imaging (MRI) showed that there were regions with infiltration in particularly the thoracic vertebrae (T3, T4, T9, and T10-T12). In the lumbar region leptomeningeal involvement beginning at the end of the medulla spinalis that gave rise to a separation of nerves in the cauda equine was observed. Contrast agent uptake was observed, especially at the dural sac, with edema in the nerve roots.

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