The role of tumor necrosis factor-alpha -308 G/A and transforming growth factor-beta 1 -915 G/C polymorphisms in childhood idiopathic thrombocytopenic purpura

Abstract Objective: To increase our understanding of the etiology of idiopathic thrombocytopenic purpura (ITP) some cytokine gene polymorphisms were analyzed for susceptibility to the disease. The aim of this study was to investigate the role of tumor necrosis factor-alpha (TNF-α) -308 G/A and transforming growth factor-beta

The role of tumor necrosis factor-alpha -308 G/A and transforming growth factor-beta 1 -915 G/C polymorphisms in childhood idiopathic thrombocytopenic purpura

Objective: To increase our understanding of the etiology of idiopathic thrombocytopenic purpura (ITP) some cytokine gene polymorphisms were analyzed for susceptibility to the disease. The aim of this study was to investigate the role of tumor necrosis factor-alpha (TNF-α) -308 G/A and transforming growth factor-beta 1 (TGF-β1) –915 G/C polymorphisms in the development and clinical progression of childhood ITP.Materials and Methods: In all, 50 pediatric patients with ITP (25 with acute ITP and 25 with chronic ITP) and 48 healthy controls were investigated via LightCycler® PCR analysis for TNF-α -308 G/A and TGF-β1 -915 G/C polymorphisms.Results: The frequency of TNF-α -308 G/A polymorphism was 20%, 16%, and 22.9% in the acute ITP patients, chronic ITP patients, and controls, respectively (p>0.05). The frequency of TGF-β1 -915 G/C polymorphism was 16%, 8%, and 8.3% in the acute ITP patients, chronic ITP patients, and controls, respectively (p>0.05). The risk of developing ITP and clinical progression were not associated with TNF-α -308 G/A (OR: 0.738, 95% CI: 0.275-1.981, and OR: 0.762, 95% CI: 0.179-3.249) or TGF-β1 -915 G/C (OR: 1.5, 95% CI: 0.396-5.685, and OR: 0.457, 95% CI: 0.076-2.755) polymorphisms. Conclusion: The frequency of TNF-α -308 G/A and TGF-β1 -915 G/C polymorphisms did not differ between pediatric ITP patients and healthy controls, and these polymorphisms were not associated with susceptibility to the development and clinical progression of the disease

ORAK HÜCRELİ ANEMİDEN BETA TALASEMİ İNTERMEDİAYA: KAYITLI HER TANI SORGULANMAYA MUHTAÇTIR

Giriş ve Amaç: Otuzaltı yaşına kadar orak hücreli anemi tanısı ile takip ve tedavi edilen hastanın aslında beta talasemi intermedia olduğunu gösterdik. Mevcut kayıtlarda hastanın tanısı belli olsa da teşhisle ilgili en ufak uyumsuzluk var ise tanının tekrar gözden geçirilmesi gerekliliğini ve hemoglobinopatilerde anne baba incelemelerinin önemini vurgulamak istiyoruz.Olgu: Haziran 1978 doğumlu hastamız, sekiz aylıkken hemoglobin düşüklüğü nedeniyle başvurduğunda ilk transfüzyonu yapılmış. Bundan sonra da hemoglobin düşüklüğü devam ettiği için birkaç ayda bir transfüzyona devam edilmiş. Aileye ilk başvuruda orak hücreli anemi olduğu söylenmiş. Hastanın bulunabilen ilk tıbbi kaydı Ocak 2004 tarihlidir. Hastanın 2004’ten Ekim 2013 tarihine kadar kayıtları incelendiğinde orak hücreli anemi teşhisi ile izlendiği görüldü. Hastanın anamnezi derinleştirildiğinde orak hücreli anemiye ait semptom ve bulguların olmadığı saptandı. Hastanın orak hücre krizi olarak tanımladığı durum, kollarında ve bacaklarında zaman&nbsp;zaman myalji ve artralji gibi yakınmalarının olmasıydı. Hastanın anne ve babasının tan kan sayımı, periferik yayma ve hemoglobin elektroforezi incelemeleri yapıldı. Anne (Hb A2: %4, Hb A: %96) ve babanın (Hb A2:%4.1, Hb A: 93.7, Hb F: 2.2) her ikisinin de beta talasemi taşıyıcısı oldukları görüldü. Birkaç ayda bir transfüzyon verilen hastanın hemoglobin değerleri 7 gr/dl nin altına düşmüyordu. Hastanın hemoglobin elektroforezinde Hb F %80.2 VE Hb A %19.8 olarak saptandı. Hemoglobin S ne ebeveynde ne de hastada yoktu. Laboratuvar verileri ve klinik seyir bulguları ile birlikte beta talasemi intermedia tanısı aldı ve tanı değiştirildi.Sonuç: Otuz altı yaşına kadar orak hücre anemi tanısı ile takip ve tedavi edilen hastanın aslında beta talasemi intermedia olduğu gerçeği, konulmuş her tanıya şüpheyle yaklaşmamız gerektiğini bize göstermiştir. Hastanın yaşı da gözönünde bulundurulduğunda, henüz elektronik sistemin yaygınlaşmadığı dönemlerde bir karışıklık meydana gelmiş olabileceğini düşünüyoruz. Hemoglobinopatilerde anne baba incelemelerinin önemini vurgularken, asıl olarak tanısı olan hastalarda dahi mevcut tanıyı gözü kapalı kabul etmeden önce tanıyla uyuşmayan yönler var ise olgunun ayrıntılı ele alınması gereklidir.Anahtar Kelimeler: Hemoglobinopati; orak hücreli anemi; beta talasemi</p

Difficulties in diagnosis of hemophagocytic lymphohistiocytosis: Case report

In 1991, diagnostic guidelines for hemophagocytic lymphohistiocytosis were presented by the Histiocyte Society; however, a number of patients may develop one or more of the diagnostic criteria late during the course of the disease. With these concerns in mind, the diagnostic guidelines have been revised at 2004. Delay in diagnosis may result in high morbidity and mortality. If we don’t verify the patient has a genetically disease or a familial form of hemophagocytic lymphohistiocytosis, and if the disease is severe, persistent, or recurrent, we have to start specific therapy for hemophagocytic lymphohistiocytosis. Here, we report the difficulties in diagnosis and treatment in a case with an atypical and insidious course in whom all criteria are not fulfilled at the beginning, and although the corticosteroid usage for suspicious underlying disease made the diagnosis conflict, and delayed criteria for hemophagocytic lymphohistiocytosis

Unilateral Exudative Retinal Detachment as the Sole Presentation of Relapsing Acute Lymphoblastic Leukemia

Ocular findings are rarely the initial symptom of leukemia, although up to 90% of all leukemia patients have fundus changes during the course of the disease. Herein we report a relapsing acute lymphoblastic leukemia patient with the sole presentation of sudden visual loss and exudative retinal detachment. An 8-year-old boy with acute lymphoblastic leukemia developed sudden visual loss during his first remission period. Bullous retinal detachment with total afferent pupillary defect was observed. Orbital magnetic resonance imaging revealed an intraocular mass lesion; simultaneously obtained bone marrow and cerebrospinal fluid samples showed no evidence of leukemic cells. Following local irradiation, and systemic and intrathecal chemotherapy the mass disappeared. Local irradiation, and systemic and intrathecal chemotherapy effectively controlled the isolated ocular relapse of acute lymphoblastic leukemia and eliminated the need for enucleation

Venous Thromboembolism after Allogeneic Pediatric Hematopoietic Stem Cell Transplantation: A Single-Center Study

Objective: Venous thromboembolism (VTE) in children who undergo hematopoietic stem cell transplantation (HSCT) has high morbidity. The aim of this study is to assess the incidence of VTE in allogeneic pediatric HSCT recipients and the contribution of pretransplant prothrombotic risk factors to thrombosis. Materials and Methods: We retrospectively evaluated 92 patients between April 2010 and November 2012 undergoing allogeneic HSCT who had completed 100 days post-HSCT. Before HSCT, coagulation profiles; acquired and inherited prothrombotic risk factors including FV G1691A (factor V Leiden), prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, and MTHFR A1298C mutations; and serum homocysteine and lipoprotein (a), plasma antithrombin III, protein C, and protein S levels were obtained from all patients. Results: In the screening of thrombophilia, 8 patients (9%) were heterozygous for factor V Leiden, 5 (6%) were homozygous for MTHFR 677TT, 12 (14%) were homozygous for MTHFR 1298CC, and 2 (2%) were heterozygous for prothrombin G20210A mutation. We observed VTE in 5 patients (5.4%); a prothrombotic risk factor was found in 3 out of these 5 patients, while 4 out of 5 patients had central venous catheters. It was determined there was no significant relationship between VTE and inherited prothrombotic risk factors. Conclusion: VTE after HSCT seems to be a low-frequency event that may be due to low-dose, low-molecular-weight heparin prophylaxis, and the role of inherited prothrombotic risk factors cannot be entirely excluded without a prospective study

Treatment of Priapism with Automated Red Cell Exchange and Hyperbaric Oxygen in an 11-year-old Patient with Sickle Cell Disease

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

A Pediatric Patient with Intravenous Cyclosporine Anaphylaxis Who Tolerated the Oral Form

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