The role of serum NT-proBNP level, cardiovascular T2* MRI and tissue doppler measurements in diagnosing and following the cardiac disfunction in thalassemia major

Talasemi majorde; kardiyak nedenler hala en önemli mortalite ve morbidite nedenidir. Kardiyak demir yükünün ve hasarının erken dönemde, saptanması ve tedavisi çok önemlidir. Talasemi majorlu hastalarda kardiyak durumun belirlenmesinde, serum NT-proBNP, kalp T2*MRI ve doku Doppler yöntemlerinin etkinliğini araştırdık. Çalışmamıza; sistolik fonksiyonları korunmuş, düzenli şelasyon ve transfüzyon tedavisi alan 33 talasemi majorlu olgu alındı. Kontrol grubu 37 sağlıklı olgudan oluştu. Hastalardan; çalışma başlangıcında ve 6 ay ara ile toplam üç kez serum ferritin ve NT-proBNP düzeyleri ve T2* MRI ve doku Doppler ölçümleri yapıldı. Kontrol grubundan da ferritin ve NT-proBNP çalışıldı ve doku Doppler ölçümleri yapıldı. Hastalarımızın NT-proBNP düzeyleri kontrollerden farksızdı. Hastaların doku Doppler ölçümlerinde, sistolik ve diyastolik fonksiyonlar anlamlı derecede kötü idi. Kalp T2* MRI ile doku Doppler ölçümleri arasında korelasyon saptanmadı. Ancak; kardiyak demir birikimi olan grupta, ET-septal ile T2*MRI arasında negatif korelasyon bulundu. Kalp T2* MRI’da kardiyak demir birikimi saptanmayan hastaların septumdan yapılan doku Doppler ölçümleri kontrollerden farksız iken, sol ventrikül lateral duvarından yapılan ölçümleri, kontrol grubuna göre anlamlı olarak daha kötü bulundu. Hastaların süreç içindeki diyastolik fonksiyonları belirgin olarak kötü etkilendi. Bu kötü etkilenme; hem ferritini yüksek olan grupta, hemde T2*MRI >20 ms (demir birikimi olmayan) grupta saptandı. Sonuç olarak; NT-proBNP, konvansiyonel M-mode EKO’da normal sistolik fonksiyonu olan hastalarda kardiyak etkilenmeyi göstermemektedir. Kanımızca, hastaların kardiyak durumunun belirlenmesi ve şelasyon tedavisi, sadece kalp T2*MRI ölçümlerine göre yapılmamalıdır. Bu hastaların kardiyak fonksiyonlarının doku Doppler ile değerlendirilmesinin, kardiyak komplikasyonları daha iyi yönetilebileceğini düşündürmüştür.Cardiac problems are the most important mortality and morbidity reason in thalassemia major. Treatment of the cardiac iron overload and damage in the early phase of the disease is very important for these patients’ prognosis. We evaluated the efficiency of serum NT-proBNP, cardiovascular T2*MRI and tissue Doppler measurements for determining the cardiac status in thalassemic patients. Thirty-three patients with thalassemia major on regular chelation and transfusion treatment with preserved systolic functions are included into the study. The control group was consisted of 37 healthy persons.In the study group, ferritin, NT-proBNP levels and T2*MRI, tissue Doppler measurement were performed at the beginning and in six month intervals within one year of follow-up. Ferritin, NT-proBNP and tissue Doppler were also determined in control group. NT-proBNP level in patients were found similar with the controls. Systolic and diastolic functions in tissue Doppler were worse in thalassemics compared to the healthy subjects. There was no correlation between T2*MRI and tissue Doppler measurements. However, negative correlation between ET-septal and T2*MRI scores were found in patients with myocardial iron overload. While septal tissue Doppler measurements weren’t different from controls in patients showing no myocardial iron overload in T2*MRI, tissue Doppler measurements on left ventricule lateral wall in the same group were found worse. The diastolic functions in thalassemics were worsened during follow-up. This deterioration was determined both in patients with high serum ferritin level and T2*MRI score >20ms (no myocardial iron overload). Consequently; we found that serum NT-proBNP had no effect in showing cardiac dysfunction in thalassemics with normal systolic function measured by conventional M-mode ECHO. This study suggested that using only T2*MRI in determining the cardiac status and chelation therapy in these patients were not sufficient. Cardiac functions would be evaluated better with the addition of tissue Doppler measurements of which would result a better management of cardiac complications in thalassemia major

Childhood Immune Thrombocytopenia: Long-term Follow-up Data Evaluated by the Criteria of the International Working Group on Immune Thrombocytopenic Purpura

OBJECTIVE: Immune thrombocytopenia (ITP) is a common bleeding disorder in childhood, characterized by isolated thrombocytopenia. The International Working Group (IWG) on ITP recently published a consensus report about the standardization of terminology, definitions, and outcome criteria in ITP to overcome the difficulties in these areas. METHODS: The records of patients were retrospectively collected from January 2000 to December 2009 to evaluate the data of children with ITP by using the new definitions of the IWG. RESULTS: The data of 201 children were included in the study. The median follow-up period was 22 months (range: 12-131 months). The median age and platelet count at presentation were 69 months (range: 7-208 months) and 19x109/L (range: 1x109/L to 93x109/L), respectively. We found 2 risk factors for chronic course of ITP: female sex (OR=2.55, CI=1.31-4.95) and age being more than 10 years (OR=3.0, CI=1.5-5.98). Life-threatening bleeding occurred in 5% (n=9) of the patients. Splenectomy was required in 7 (3%) cases. When we excluded 2 splenectomized cases, complete remission at 1 year was achieved in 70% (n=139/199). The disease was resolved in 9 more children between 12 and 90 months. CONCLUSION: Female sex and age above 10 years old significantly influenced chronicity. Therefore, long-term follow-up is necessary in these children

Health-Related Quality of Life, Depression, Anxiety, and Self-Image in Acute Lymphocytic Leukemia Survivors

Objective: With increasing survival rates in childhood acute lymphocytic leukemia (ALL), the long-term side effects of treatment have become important. Our aim was to investigate health-related quality of life, depression, anxiety, and self-image among ALL survivors. Materials and Methods: Fifty patients diagnosed with ALL and their siblings were enrolled. The Kovacs Children’s Depression Inventory, State-Trait Anxiety Inventory, Offer Self-Image Questionnaire, and Pediatric Quality of Life InventoryTM were used for collecting data. ANOVA tests were used to determine if there were any significant differences between groups. Results: ALL survivors had higher depression, more anxiety symptoms, lower quality of life, and more negative self-image when compared to their siblings. Conclusion: Continuous diagnostic and interventional mental health services might be necessary for possible emotional side effects of treatment during and after the treatment. Rehabilitation and followup programs should be implemented for children during and after treatment for ALL

Bursa ilinde 1-16 yaş çocuklarda demir eksikliği ve demir eksikliği anemisi prevalansı

Bu çalışmanın amacı Bursa'da yaşayan 1-16 yaş arası çocuklarda demir eksikliği (DE), demir eksikliği anemisi (DEA) prevalansını belirlemek ve beslenme alışkanlıkları ve aile eğitim düzeyinin demir eksikliği anemisi gelişimine etkilerini araştırmaktır. Bu çalışma düşük sosyoekonomik bir bölgede bulunan 3 farklı aile sağlığı merkezine başvuran 1-16 yaş arası 500 sağlıklı çocukta yapılmıştır. Çalışmaya alınan çocuklar sırasıyla 1-1,9, 2-5, 6-10,9 ve 11-16 yaş grubundaki çocuklar olmak üzere dört gruba ayrıldı.Tam kan sayımı, serum demir (µg/dl), demir bağlama kapasitesi (µg/dl), ferritin (ng /ml), transferrin satürasyonu (%) çalışıldı. Araştırmaya alınan çocukların beslenme ve anne-baba eğitim durumlarını araştırmak için anket uygulandı. Bu çalışmada anemi, DE ve DEA National Health and Nutrition Examination Survey (NHANES III) kriterlerine göre araştırıldı. Mentzer indeksi talasemi minör ve DEA'yı ayırt etmek için kullanıldı. Araştırmaya alınan 247 erkek (%49) ve 253 kız (%51)olgularımızın yaş ortalaması 7,4±3,9 yıl idi. NHANES III kriterlerine göre anemi prevalansı %31(n=155) idi. Grup I ve Grup IV'te anemi görülme sıklığı diğer gruplara göre daha yüksekti(p<0.05).Araştırmadaki 500 olgunun %12'sinde (n=61) DE, %7,4'ünde (n=37) DEA bulundu. Serum ferritin seviyesi DEA'nın saptanmasında en yüksek duyarlılık ve özgüllüğe sahipti (p<0,001).Çalışmadaki 500 olgunun 18'inde (%3,6) talasemi minör saptandı. Anemik gruplarda anne eğitim düzeyi anlamlı olarak daha düşüktü(p<0.05).DE ve DEA ülkemiz için halen önemli bir sağlık sorunudur. Annelerin eğitim düzeyi çocuk beslenmesinde önemli role sahiptir. Bu sorunu çözmek için; Ebeveynler, çocuk beslenmesine yönelik eğitim programları ile desteklenmelidir

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Objective: Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the factor 8 (F8)gene. The aim of this study is to determine the mutation spectrum of the F8 gene in a large HA cohort from Turkey, and then to establish a phenotype-genotype correlation.Materials and Methods: All HA cases (270 patients) analyzed molecularly in the Ege University Pediatric Genetics Molecular Laboratory between March 2017 and March 2018 were included in this study. To identify intron 22 inversion (Inv22), intron 1 inversion (Inv1), small deletion/insertions, and point mutations, molecular analyses of F8 were performed using a sequential application of molecular techniques. Results: The mutation detection success rate was 95.2%. Positive Inv22 was found in 106 patients (39.3%), Inv1 was found in 4 patients (1.5%), and 106 different disease-causing sequence variants were identified in 137 patients (50.6%). In 10 patients (3.7%), amplification failures involving one or more exonic regions, considered to be large intragenic deletions, were identified. Of 106 different F8 mutations, 36 were novel. The relationship between F8 genotype and inhibitor development was considered significant.Conclusion: A high mutation detection rate was achieved via the broad molecular techniques applied in this study, including 36 novel mutations. With regard to mutation types, mutation distribution and their impact on clinical severity and inhibitor development were found to be similar to those previously reported in other hemophilia population studies

Cerebellar Granulocytic Sarcoma: A Case Report

Granulocytic sarcoma is a rare tumor composed of immature granulocytic cells that is usually associated with acute myelogenous leukemia. Intraparenchymal cranial localization without skull, meningeal, or bone marrow invasion is extremely rare. The mechanisms of intraparenchymal cranial localization of GS remains unknown, as only 10 cases with cerebellar granulocytic sarcoma have been previously reported. Herein, we report a four year old boy with cerebellar localization of granulocytic sarcoma