Çocukluk çağı lösemilerinde prame gen ekspresyonu

TEZ5020Tez (Uzmanlık) -- Çukurova Üniversitesi, Adana, 2004.Kaynakça (s. 35-39) var.v, 39 s. ; 30 cm.

Werner syndrome in a patient with pancytopenia: A case report

ET 25 yaşında kadın hasta. Kusma, halsizlik ve pansitopeni ile Çukurova Üniversitesi Tıp Fakültesi Hematoloji Polikliniğine başvurdu. Fizik muayenede; kaşektik görünümlüydü, total alopesi, katarakt, deride skleroderma belirtileri, ekstremitelerde yaygın atrofi, sol ayak bileğinde ekin deformitesi, tüm tırnaklarda onikogrifozis ve hipogonadizm mevcuttu. Diğer fizik ve nörolojik muayene bulguları normaldi. Hematolojik incelemede pansitopenisi vardı. G bandlama yöntemi ile yapılan karyotip değerlendirmesi 46, XX olarak bulundu ve spontan kromozom aberasyonu %25 düzeyinde idi. Bu fenotipik ve klinik bulguları olan hastaya Werner sendromu (WS) tanısı konuldu. Otozomal-resesif geçiş örneği gösteren WS'de diabetes mellitus ve kanser riskinin yüksek olduğu bilinmektedir. Hasta izleniminde, sorunların giderilmesi sağlanmalıdır.ET 25 year old female was referred to Çukurova University Faculty of Medicine Hematology follow-up clinics with the complaints of vomiting, lassitude and pancytopenia. On physical exam: Cachectic appearance, total alopecia, cataract, scleroderma manifestations on dermis, diffuse atrophy of the muscles of extremities, equin deformity at the left ankle, onychogryphosis of all nails and hypogonadism were observed. The other physical and neurological findings were normal. She had pancytopenia on hematological evaluation. Her karyotypic analysis was found as 46, XX with using G-banding method and spontaneous chromosomal aberrations were at 25% level. The patient was diagnosed as Werner syndrome (WS) with these phenotypic and clinical findings. It is known that the risks of diabetes mellitus and cancer are high in WS with autosomal-recessive pattern of inheritance. On follow-up of the patient, the problems should be solved in future

The Prognostic Significance of Serum Tumor Necrosis Factor (TNF)-Related Apoptosis-Inducing Ligand (TRAIL) in Childhood Acute Leukemias

Tümör nekroze edici faktör(TNF) ilişkili apopitoz indükleyici protein (TRAIL) TNF süper ailesinin bir üyesidir. TRAIL pek çok organda ekprese edilen, hücre yüzeyinde yer alan transmembran bir proteindir. C-domainin (hücre dışında yer alan)ayrılması sonucunda serumda bulunan formunun oluşmasına izin verir.TRAIL, reseptörlerinden TRAIL reseptör 1 (TRAIL-R1) ve TRAIL reseptör 2 (TRAIL-R2)' ye bağlanarak apopitozu indükler bununla birlikte apopitoz sinyali TRAIL reseptör 3 (TRAIL-R3) ve TRAIL reseptör 4 (TRAIL-R4) ile bağlanması sonucunda indüklenemez. Apopitotik yolak bozuklukları ve lösemi gelişimi arasındaki ilişkiyi araştıran pek çok çalışma yapılmıştır.Çalışmamızda akut lösemi hastalarında ilk tanı anında serum TRAIL miktarını tespit etmek istedik. Serum TRAIL'ın akut lösemi hastalarında hasta sağkalımı ve klinik parametrelerle ilişkisini incelemeyi amaçladık. Materyal ve Metod: Bu çalışma Ekim 2009- Temmuz 2010 tarihleri arasında Çukurova Üniversitesi Tıp Fakültesi Çocuk Hematoloji ve Çocuk Onkoloji Bilim Dalına başvuran hastalarda yapıldı. Çalışmaya 9 ay-12 yaş 8ay yaş dağılımında yeni tanı almış 23 akut lenfoblastik lösemili (ALL) hasta ile, 9 gün-19 yaş dağılımında yeni tanı almış 14 akut miyeloblastik lösemili (AML) hasta dahil edildi. Sağlıklı, kan hastalığı olmayan, lösemi grubuna benzer yaş ve cinsiyetteki 21 çocuk, kontrol grubu olarak seçildi. Serum TRAIL düzeyleri Elisa yöntemi ile araştırıldı. Bulgular: Akut lösemi tanılı hastalar ile kontrol grubu karşılaştırıldığında akut lösemi hastalarında ortalama serum TRAIL düzeyi sağlıklı kontrollerden düşük tespit edildi (p=0,002). ALL'li yüksek risk grubundaki (HRG) hastalarda, TRAIL düzeyi kontrol grubuna göre düşük tespit edildi (p=0,008). Common akut lenfoblastik lösemi antijeni (CALLA )(-) B ALL grubunda TRAIL düzeyi kontrol grubuna göre düşük tespit edildi (p=0,004). Lösemi tanısı alan ve eksitus olan hastalarla yaşayan hastalar kıyaslandığında TRAIL düzeyi eksitus olan grupta düşük tespit edildi (p=0,004). Sonuç: Serum TRAIL lösemi hastalarında lökomogenezde rol oynayabilir. Hastalarımızda tespit edilen düşük serum TRAIL düzeyleri azalmış TRAIL aracılıklı apopitoza ve lökomogeneze neden olmuş olabilir. Akut lösemi patogenezinde serum TRAIL'ın rol aldığını önermek için eş zamanlı bakılmış TRAIL aracılıklı apopitotik aktivitenin ölçülmesi gereklidir.Düşük serum TRAIL düzeyi kötü prognozu gösteren bir belirteç olarak kullanılabilir. Daha kapsamlı sonuçlar elde etmek için daha çok sayıda vaka ile yapılmış prospektif çalışmalara ihtiyaç vardırTumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) is a TNF superfamily member. TRAIL is transmembrane protein expressed on cell surfaces and has a broad expression pattern in a variety of organs. Cleavage of its C-terminal part (extracellular domain) allows for a soluble form of TRAIL.TRAIL induces apoptosis with its receptors TRAIL-receptor 1 (TRAIL-R1), TRAIL-receptor 2 (TRAIL-R2) however apoptosis can not be induced by receptors TRAIL-receptor 3 (TRAIL-R3) and TRAIL-receptor 4 (TRAIL-R4). There are many trials to search the correlation between leukemia and apoptotic pathway disorders. In this study we determined the seum levels of TRAIL in acute childhood leukemias at first diagnose. We aimed to determine the relation between the levels of serum TRAIL and patient's survey, clinical parameters. Material and Methods: The study was performed in patients admitted to Pediatric Hematology and Pediatric Oncology Department of Çukurova University Medical Faculty between October 2009 and July 2010. Twenty-three cases with new diagnosis acute lymphoblastic leukemia (ALL) at the age disturbition 9-months-12-year and 8-months and fourteen cases with new diagnosis acute myeloblastic leukemia (AML) at the age disturbition of 9 days-18 years are included in this study. Twenty-one healty children with no blood disease with similar sex and age with leukemia group was chosen as the control group. Serum TRAIL levels were determined by using ELISA method. Results: The comparison of the average values of the TRAIL levels in acute leukemia patients and control group have shown that patients with leukemia have low serum TRAIL levels (p=0.002). In patients with high-risk-grade (HRG) of ALL compared with control group have shown low serum TRAIL levels in HRG of ALL (p=0.008). In patients with common acute lymphoblastic leukemia antigen(CALLA)(- ) B ALL compared with control group have shown low serum TRAIL levels in CALLA(-) B ALL (p=0.004). Children with acute leukemias (ALL, AML) who died during treatment compared with survived group have shown low levels of serum TRAIL in expired patients (p=0.004). Conclusion: As a result, serum TRAIL might play a role in leukomegenesis. The low levels of serum TRAIL detected in our patients may be associated with leukomogenezis and impaired TRAIL-mediated apoptosis. To suggest soluble TRAIL's role in acute leukemias detection of TRAIL-mediated apoptosis is needed. The low serum TRAIL may be used as a sign of bad prognosis. For more comphrensive results prospective studies with greaater number of patients are neede

Mikro RNA and Cancer

MikroRNA'lar, genom üzerinde protein kodlayan intron veya ekzon bölgeleri ve protein kodlamayan bölgelerdeki RNA genlerinden transkripsiyonu sağlanan, fakat proteine translasyonu gerçekleşmeyen, fonksiyonel RNA molekülleridir. MikroRNA’lar protein translasyonunun inhibisyonuna ve/veya mRNA'nın yıkımına neden olur. Yapılan çoğu çalışmada bu küçük moleküllerin hematopoezde farklılaşma, çoğalma ve apopitoz gibi çok önemli hücresel olaylarda kritik öneme sahip olduğunu göstermiştir. Malign hastalıklardaki rolü giderek daha fazla araştırmanın konusu olmaktadır. MikroRNA’lar bir ya da birden fazla hedef geni baskılayarak hücrenin gelişim, farklılaşma, çoğalma, ölümü gibi farklı olaylarda rol oynarlar. miRNA genlerinin %50'sinden fazlası kanser ile ilişkilendirilmiş genom üerinde bulunur. Yapılan çok sayıda deneysel çalışma; miRNA'ların yeni bir onkogen veya tümör baskılayıcı gen sınıfı oluşturabileceğini göstermiştir. Normal ve patolojik dokular arasında farklı seviyede ifade edilen miRNA'lar tespit edilerek, insan kanserlerinde tanı ve tedavide etkili olabilecek yeni miRNA'lar belirlenebilecektir.Mikro-RNAs are functional, non-protein coding RNA molecules and their transcriptions provided by intron or exon regions of the genome and non-protein coding regions of RNA genes. Mikro-RNAs inhibit translation of protein and / or cause destruction of mRNA. Most of studies have demonstrated that many of these small molecules have critical importance in many important cellular events such as hematopoiesis, differentiation, proliferation and apoptosis. The role of mikro-RNAs in malign diseases have become the subject of research increasingly. Mikro-RNAs play a role in different events such as cell growth, differentiation, proliferation and death by suppressing one or more target gene. More than 50% of miRNA genes are located on the genome which has associated with cancer. A large number of experimental studies show that miRNAs may have generate a new class of oncogenes or tumor suppressor gene. MiRNAs are thought to be identified at a different level of expression in normal and pathological tissues can be determined between the miRNAs that are effective diagnosis and treatment of human cancers

Cataract Formation due to use of Deferiprone in a Patient with Thalassemia Major

Talasemiler; otozomal resesif kalıtım gösteren, hemoglobin zincirlerinden birinin veya bir kaçının hasarlı sentezi sonucu ortaya çıkan hipokrom mikroster anemi ile karakterize heterojen bir grup hastalıktır. Hastaların sık transfüzyona maruz kalması sonucunda aşırı demir birikimine bağlı yaşamı tehdit eden önemli klinik bulgular ortaya çıkar. Talasemili hastalarda hastalığın kendisine ya da kullanılan şelatör tedavisine bağlı olarak oküler değişikliklere çok sık olmasa da rastlanmaktadır. Bu değişiklikler genellikle katarakt, optik nöropati, retinal pigment epitelinde (RPE) dejenerasyon, RPE mottling, retinal venous tortuosity, vitreoretinal hemorrhages and obliteration of iris patern şeklindedir. İlk defa demir bağlayıcı şelatör olarak kullanılmaya başlanan deferoxamin optik nöropati ve retinal toksisite gibi iyi bilinen komplikasyonlara sahiptir. Ancak deferoxaminin yerini alan ve yakın dönemde sık kullanılan deferipronun oküler toksisitesi ile ilgili literatürde daha önce bildirilmiş az sayıda bilgi vardır. Bu olgu deferipron kullanımına bağlı gelişen katarakt oluşumuna dikkat çekmek amacıyla bildirilmiştir.Thalassemias are a heterogeneous group of autosomal recessive diseases characterized by hypochromic microcytic anemia and occur as a result of defective synthesis of one or more hemoglobin chains. In patients, life-threatening clinical manifestations may occur because of severe iron overload due to frequent blood transfusions. Ocular changes in patients with thalassemia are to be encountered depending on the disease itself or chelator used in the treatment, but not very often. These changes are usually cataracts, optic neuropathy, retinal pigment epithelium (RPE) degeneration, RPE mottling, retinal venous tortuosity, vitreoretinal hemorrhages and obliteration of the iris pattern. Desferrioxamine that is used as the first iron-binding chelating has well-known complications such as optic neuropathy and retinal toxicity. However, Deferiprone that used more common recently has replaced the Desferrioxamine but, there is very little information in the literature about the ocular toxicity of deferiprone. In this case report, we have reported a patient with deferiprone-induced cataract formation in order to draw attention to a little-known complication of the drug

Zinc deficiency as a practical problem in plant and human nutrition in Turkey: A NATO-science for stability project

Zinc (Zn) deficiency is a critical nutritional problem for plants and humans in Turkey. About 14 Mha of cropped land in Turkey are known to be Zn deficient, particularly cereal growing areas of Anatolia. In 1993, a joint research project was started in Turkey with the financial support of the NATO-Science for Stability Programme to select and characterize cereal genotypes with high yield and/or high Zn accumulation in grain under deficient supply of Zn. Field, greenhouse and growth chamber experiments were carried to study morphological, physiological and genetic factors determining the bases of genotypical differences in Zn efficiency among cereal species and within cultivars of wheat. Among the cereals, rye had particularly high Zn efficiency (high yield under Zn deficiency). There were large genotypical differences among wheat lines. High Zn efficiency was closely associated with enhanced capacity of some lines to take up Zn from soils, but not with increased Zn accumulation per unit dry weight of shoot or grain. Measurement of Zn-containing superoxide dismutase activity in leaves revealed that an efficient utilization of Zn at the tissue or cellular level is an additional major factor involved in Zn efficiency of cereals. Zinc present in grains from Anatolia seems to be not bioavailable. Phytate: Zn molar ratios in grains, a widely accepted predictor of Zn bioavailability, were extremely high and ranged between 95 and 216 for crops grown severely on Zn-deficient soils of Central Anatolia. In the studies concerning determination of Zn nutritional status of school children in Southeastern Anatolia, most children were found to be of shorter stature and had very low levels of Zn (<100 mg kg-1) in hair.Türkiye Bilimsel ve Teknolojik Araştirma Kurumu National Council for Scientific ResearchThis study was supported by NATO's Scientific Affairs Division in the framework of the Science for Stability Programme and in part by TÜBITAK (The Scientific and Technical Research Council of Turkey). The authors thank Miss. Huriye Avsar for her excellent assistance in preparation of the manuscript

Orak hücreli anemisi olan çocuklarda T helper, T sitotoksik ve doğal öldürücü hücre profili ve klinik prognozla ilişkisi

Purpose: Our aim was to determine the effects of ischemic attacks on T cell profiles, immune functions and clinical prognosis in patients with sickle cell anemia. Materials and Methods: The study group consisted of 29 sickle cell anemia patients who were either in vaso-occlusive crisis or in steady state. Twenty-four age-matched healthy children served as the control group. All patients underwent complete blood cell count, hemoglobin electrophoresis, and blood chemistry analysis. Flow-cytometry was used to assess the T-cell profiles. Results: The mean HbS in sickle cell anemia patients during vaso-occlusive crisis was 83±6.6%. The CD3 levels of patients in vaso-occlusive crisis (62.31±7.79%) were lower compared to steady state (65.53±5.72 %) and healthy controls (69.09±9.18%). The NK T cell percentages of patients in vaso-occlusive crisis (13.07±7.67%) were higher than the control group (8.11±4.67%). Conclusion: Total T lymphocyte levels were found to be significantly lower in sickle cell anemia patients during vaso-occlusive crisis compared to healthy controls. NK T cell levels of the study group were higher than that of the control group.Amaç: Orak hücreli anemide iskemik atakların T hücre profiline, immun fonksiyonlara ve klinik prognoza etkisinin araştırılması amaçlanmıştır. Gereç ve Yöntem: Bu çalışmaya 29 orak hücreli anemi hastası çocuklar çalışmaya dahil edildi. Çalışma grubu vazo-oklüzif kriz ve kriz dışı döneminde olan hastalardan oluşmaktaydı. Kontrol grubu olarak aynı yaş grubunda 24 sağlam çocuk alındı. Tüm çocuklardan tam kan sayımı, hemoglobin elektroforezi, kan biyokimyası çalışıldı. T hücre profilini belirlemek için akım sitometri yöntemi kullanıldı. Bulgular: Orak hücre anemili hastaların kriz dönemlerinde bakılan HbS ortalaması %83.8±6.6 bulundu. Orak hücre anemili hastaların kriz dönemlerinde bakılan CD3 değerleri (%62.31±7.79) aynı hastaların stabil dönemlerinde bakılan CD3 değerlerine (% 65,53±5,72) ve kontrol grubunda bakılan CD3 değerlerine (% 69,09±9,18) göre anlamlı olarak daha düşük bulundu. Orak hücre anemili hastaların kriz dönemlerinde bakılan doğal öldürücü T hücre değeri (%13.07±7.67) kontrol grubuna (%8.11±4.67) göre anlamlı olarak daha yüksek bulundu. Sonuç: Çalışma sonucunda kronik hemoliz ve doku hipoksisi ile seyreden orak hücre anemili hastalarda toplam T hücre sayısını gösteren CD3 değerleri vazo-oklüzif kriz döneminde kontrol grubuna göre daha düşük saptandı.. Doğal öldürücü T hücre seviyeleri çalışma grubunda kontrol grubuna göre yüksek bulundu

Infantile malignant osteopetrosis

Osteopetrosis, also known as marble bone disease, is a rare in which osteoclast dysfunction causes defective bone resorption and increased bone mass. This disease has been classified into four types. The most severe and rare form is infantile malignant osteopetrosis. So we reported and discussed two siblings patients with infantile malignant osteopetrosis with new knowledge in the literature.Osteopetrosis, also known as marble bone disease, is a rare in which osteoclast dysfunction causes defective bone resorption and increased bone mass. This disease has been classified into four types. The most severe and rare form is infantile malignant osteopetrosis. So we reported and discussed two siblings patients with infantile malignant osteopetrosis with new knowledge in the literature

Pulmonary crisis in sickle cell anemia

Sickle cell anemia is a chronic hemolytic anemia with vasoocclusive crisis and is the most common symptomatic event that causes tissue hypoxia in many systems. Pulmonary crisis is one of them and its the major cause of mortality and morbidity in sickle cell anemia. Furthermore, pulmonary crisis is the second clinical situation for hospitalization. Pneumoia must be thought in differential diagnosis and is too difficult to rule out. Two cases with pulmonary crises with sickle cell anemia were presented with up to date knowledge.Sickle cell anemia is a chronic hemolytic anemia with vasoocclusive crisis and is the most common symptomatic event that causes tissue hypoxia in many systems. Pulmonary crisis is one of them and its the major cause of mortality and morbidity in sickle cell anemia. Furthermore, pulmonary crisis is the second clinical situation for hospitalization. Pneumoia must be thought in differential diagnosis and is too difficult to rule out. Two cases with pulmonary crises with sickle cell anemia were presented with up to date knowledge