The Relationship Between Hematological Findings And Coronary Artery Aneurysm In Kawasaki Disease

PubMe

Akut Lenfoblastik Lösemi İdame Tedavisi Sırasında Gelişen İmmün Trombositopenik Purpura: Fazla Şüphe Gerektiren Nadir Bir Birliktelik, Bir Olgu Sunumu ve Literatür Derlemesi

Thrombocytopenia may develop in patients with acute lymphoblastic leukemia (ALL) due to myelosuppression of chemotherapy or relapse. Here we report a pediatric patient with ALL whose platelet counts decreased at the 102nd week of maintenance treatment. Thrombocytopenia was refractory to platelet infusions and bone marrow aspiration revealed remission status for ALL along with increased megakaryocytes. The cessation of chemotherapy for 2 weeks caused no increase in thrombocyte counts. The viral serology was unrevealing. A diagnosis of immune thrombocytopenic purpura (ITP) was established. After administration of intravenous immunoglobulin, the thrombocytopenia resolved. When thrombocytopenia occurs in patients with ALL in remission, ITP should be kept in mind after exclusion of the more common etiologies

Vacuolization In Myeloid And Erythroid Precursors In A Child With Menkes Disease

PubMedWoSScopu

Reliability and Validity of the Turkish Version of the PedsQL 3.0 Cancer Module for 2- to 7-Year-Old and the PedsQL 4.0 Generic Core Scales for 5- to 7-Year-Old: The Hacettepe University Experience

Objective: The aim of this study was to investigate the reliability and validity of the Turkish version of the Pediatric Quality of Life Inventory (PedsQL) 3.0 Cancer Module for 2- to 7-year-old and the PedsQL 4.0 Generic Core Scales for 5- to 7-year-old in childhood cancer. Materials and Methods: The PedsQL 3.0 Cancer Module and PedsQL 4.0 Generic Core Scales were administered to children with cancer and their parents at Hacettepe University. Internal consistency was determined by using Cronbach’s alpha and test-retest reliability was determined by using the intraclass correlation coefficient (ICC). Construct validity was assessed by comparing the results of the PedsQL 3.0 Cancer Module with those of the PedsQL 4.0 Generic Core Scales. Results: Cronbach’s alpha of the PedsQL 3.0 Cancer Module varied from 0.803 to 0.873 and that of the PedsQL 4.0 Generic Core Scales from 0.665 to 0.841. Test-retest ICC values of the PedsQL 3.0 Cancer Module varied from 0.877 to 0.949 and those of the PedsQL 4.0 Generic Core Scales from 0.681 to 0.824. The correlation of the PedsQL 3.0 Cancer Module with subscale scores of the PedsQL 4.0 Generic Core Scales showed that there were excellent to fair correlations between the two scales. The relationship between parent proxy-report and child self-report of the PedsQL 3.0 Cancer Module had very good correlation (r=0.694, p<0.001), as did the PedsQL 4.0 Generic Core Scales (r=0.540, p=0.002). Conclusion: This study demonstrated the reliability, validity, and feasibility of the Turkish version of the PedsQL 3.0 Cancer Module in 2- to 4-year-old and 5- to 7-year-old and the PedsQL 4.0 Generic Core Scales in 5- to 7-year-old in childhood cancer

Nöroblastomu Taklit Eden t(1;22) Pozitif Akut Megakaryoblastik Lösemili Bir Süt Çocuğu

Acute megakaryoblastic leukemia (AMKL) with t(1;22) (p13;q13) is an extremely rare subtype of acute myeloid leukemia that is almost always described in infants. t(1;22) (p13;q13)-positive AMKL with extramedullary infiltration has been previously reported only once in the literature. Herein, we report a 3-month-old infant presenting with a pelvic mass and pancytopenia suggesting neuroblastoma. Bone marrow evaluation revealed t(1;22)-positive AMKL that responded well to a regimen containing high-dose cytarabine.PubMedWoSScopu

Thrombotic Microangiopathy in Allogeneic Stem Cell Transplantation in Childhood

OBJECTIVES: We define the incidence, risk factors, and mortality rates for the occurrence of thrombotic microangiopathy in 50 children who underwent transplants between January 2006 and June 2008 at 2 Turkish pediatric centers. MATERIALS AND METHODS: The diagnosis of thrombotic microangiopathy was done according to the reports of International Working Group in 2007. RESULTS: Fifty patients (27 male and 23 female; age range, 3 months to 18 years) were included. Patients with malignant and nonmalignant diseases were 13 (26%) and 37 (74%). Myeloablative and nonmyeloablative conditioning regimens were used in 29 (58%) and 21 patients (42%). Bone marrow was used as the source of stem cells in 32 patients (62%) and peripheral blood was used in 18 patients (36%). Thrombotic microangiopathy was seen in 3 of 50 cases (6%). Thrombotic microangiopathy developed in 3 of 18 patients in whom peripheral blood was used as the source of stem cells while none of 32 patients who had bone marrow as the source developed thrombotic microangiopathy (P < .05). CONCLUSIONS: Using peripheral blood as a source of stem cells is a risk factor for development of thrombotic microangiopathy.Wo

Transcobalamin Ii Deficiency In Four Cases With Novel Mutations

Objective: Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending up with intracellular cobalamin depletion and high homocysteine and methylmalonic acid levels. Materials and Methods: Herein, we describe the findings at presentation of four patients who were diagnosed to have transcobalamin II deficiency with novel mutations. Results: These patients with transcobalamin II deficiency were found to have novel mutations, of whom 2 had the same large deletion (homozygous c.1106+1516-1222+1231del). Conclusion: Transcobalamin II deficiency should be considered in differential diagnosis of any infant with pancytopenia, failure to thrive, diarrhea, and vomiting.PubMedWoSScopu

Perforin geninde A91V frekansı ve tümör nekrozis-? faktör promotor polimorfizminin edinsel hemofagositik lenfohistiositoza etkisi

Amaç: Edinsel hemofagositik lenfohistiositozun (EHL) gelişmesinde enfeksiyonlar, habis hastalıklar, kollajen doku hastalıkları gibi çok çeşitli etmen rol oynamaktadır. Aynı tetikleyici faktörü bulunan hastaların tümünde EHL’un gelişmemesi EHL’ye yatkınlık yapan ek genetik ve çevresel faktörlerin varlığına işaret etmektedir. Yöntem ve Gereçler: Perforin geninde A91V yanlış anlam değişikliği (perforin geninde ekzon 2, pozisyon 272’de C>T değişikliği) ve tumor nekrozis faktör (TNF)-? geninin promoter bölgesinde –1031T>C nükleotid değişikliği inflamatuvar yanıtı değiştirebilen ve bu nedenle EHL’ye yatkınlığa neden olabilen iki potansiyel adaydır. Çalışmamızda EHL’li hastalar ve kontrollerde bu değişiklikler incelenmiştir. Bulgular: 159 sağlıklı Türk popülasyonunda A91V değişikliği 7 (%4.4) kişide saptanmıştır. 44 EHL olgusunun beşinde (%11.3) bu değişiklik saptanmış olup, fark dikkat çekici olmakla birlikte istatistik- sel anlamlılık göstermemiştir (p=0.09); odds oranı 2.8 olarak hesaplanmıştır. A91V pozitif olan hastaların tümünde enfeksiyon altta yatan etiolojik nedendi. TNF-? -1031T>C polimorfizmi 164 sağlıklı birey ve 40 EHL’li hastada çalışıldı. Kontrollerin 7’sinde (%4.3) ve EHL bulunan hastaların 1’inde (%2.5) riski artıran CC genotipi saptandı. C ve T allel frekansları sırasıyla EHL’de 18 (%22.5) ve 62 (%77.5), kontrollerde 72 (%22) ve 259 (%78) olarak bulundu. Allel frekansları açısından gruplar arasında fark saptanmadı (p>0.05). Sonuçlar: Çalışmamızın sonuçları edinsel HLH’li hastalarda sağlıklı kontrollara göre A91V sıklığının 2.8 kat odds oranına göre daha sık olduğunu, A91V’nin sağlıklı Türk populasyonunda nadir olmadığını ve özellikle enfeksiyonu olanlarda EHL’ye yatkınlık yapabileceğini göstermektedir.Objective: Numerous acquired etiological factors, such as infections, malignancies, and collagen tissue disorders, are involved in the development of acquired hemophagocytic lymphohistiocytosis (AHLH). Not everyone with the same etiological factors developments AHLH, which suggests the role of addi- tional genetic or environmental predisposing factors that remain to be identified. Materials and Methods: Perforin gene A91V missense transition (C&gt;T change at position 272 in exon 2 of the perforin gene) and TNF-&amp;#945; gene promoter-1031 T&gt;C nucleotide substitution are 2 candidate genetic predisposing factors due to their potential to alter inflammatory responses. In the present study these changes were investigated in healthy controls and AHLH patients. Results: A91V transition was observed in 7 of the 159 (4.4%) controls. Among the 44 AHLH patients, 5 (11.3%) were heterozygous and the difference in the frequency of A91V transition, although striking (odds ratio: 2.8), was not statistically significant (p=0.09). All A91V-positive patients had infection. TNF-&amp;#945;-1031 T&gt;C polymorphism was examined in 164 healthy controls and 40 AHLH patients, and the CC risk-elevating genotype was noted in 7 (4.3%) of the controls and 1 (2.5%) of the AHLH patients. The frequency of C and T alleles was 22.5% (n=18) and 77.5% (n=62) among the AHLH patients, and 22% (n=72) and 78% (n=259) among the controls, respectively. There wasn&amp;#8217;t a statisti- cally significant difference between the groups in terms of allele frequencies (p&gt;0.05). Conclusion: The present results indicate that compared to controls, A91V mutation was 2.8-fold more prevalent (according to the odds ratio) in the AHLH patients. A91V mutation is not uncommon in the general population and increases the risk of AHLH in patients with an underlying condition, espe- cially those with an underlying infection