Glucose-6-phosphate dehydrogenase deficiency [Glükoz-6-fosfat dehidrogenaz enzim eksikligi]

Glucose-6-phosphate dehydrogenase (G6PD) is the first enzyme of the pentose phosphate pathway, providing reducing power to all cells in the form of reduced form of nicotinamide adenine dinucleotide phosphate. G6PD deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. G6PD deficiency is an X-linked, hereditary genetic defect caused by mutations in the G6PD gene. Clinical presentations include acute hemolytic anemia, chronic hemolytic anemia, neonatal jaundice, and favism, which is usually triggered by an exogenous agent

Complete heart block in thalassemia major: A case report

PubMedID: 12405443Cardiac complications of iron overload are the most common cause of death in patients with thalassemia major. These complications include recurrent pericarditis, refractory congestive heart failure and rhythm disorders. The usual rhythm disturbances are supraventricular or ventricular premature contractions and first-or second-degree heart block. Complete heart block is a very rare complication of thalassemia major. Herein, we report a case of complete heart block with thalassemia major. The patient also had serious congestive heart failure. Management of the heart block with pacemaker brought no clinical improvement, and she died in the second month of hospitalization

Thrombophilia in childhood: Prothrombin G20210 heterozygote mutation: A case report [Çocukluk çaginda trombofili: Heterozigot protrombin 20210 defektli olgu sunumu]

Trombophilia is a clinical syndrome that is characterized by recurrent thrombotic events caused by a genetic defect in one of the coagulation regulatory or fibrinolytic proteins. A 21 month-old-boy was referred to our hospital with echimotic and necrotic purpuric lesions on both parts of his gluteal regions and under the right knee. Fresh frozen plasma was given and the patient was heparinized. Debridment of necrotic lesions was performed after the formation of demarcation line. We determined prothrombin mutation G20210 heterozygosity during our investigation for primary thrombosis risk factors. Due to the presence of underlying etiological factors during childhood the risk for thrombosis should always be in mind, and parameters that should be investigated of, has been pinpointed. For this reason, we hereby present a case report and emphasise the parameters that should be investigated

Vascular endothelial growth factor levels in childhood acute lymphoblastic and myeloblastic leukemia

Angiogenesis has been associated with the growth, dissemination and metastasis and has been shown to be a prognostic. Although there are some data suggesting that angiogenesis may have a role in the pathophysiology of leukemia, its role in patient prognosis is yet to be defined. We analyzed the expression level of vascular endothelial growth factor (VEGF), an angiogenesis promoter and its possible- prognostic value in bone marrow samples at the time of diagnosis and remission of acute childhood leukemia patients. Besides 46 patients diagnosed as ALL or AML, 16 children were also included as a control group in the study. Our data have demonstrated that VEGF levels of AML patients were found higher than the control group statistically (P = 0.022). However we could not find any significant difference between VEGF levels of diagnosis and remission in both AML and ALL groups by blastic VEGF expression (P > 0.05). In this study the higher levels of VEGF in AML patients is one of the main findings although we were not able to assess any role of VEGF in predicting prognosis in pediatric leukemia patients by evaluating blastic cell VEGF expression. These results have demonstrated that the relationship between angiogenesis or angiogenesis promoters and hematological malignancies is not clear and simple as different methods or different cells beside different angiogenesis promotors are involved to these studies. So that not only tumor cells and their cytokines but also surrounding cells and their cytokines must be taken into consideration with the standardized study methods in the further studies to obtain a promising treatment approach. © 2011 Indian Society of Haematology & Transfusion Medicine

Congenital leukemia: A case report [Konjenital lösemi: Bir vaka takdimi]

Congenital leukemia is a very rare disorder mostly seen in the first few months with its signs and symptoms also seen in acute non-lymphocytic leukemia form. It accounts for 1% of all leukemias in the first year. Here we to present 48-day-old with late diagnosis of leukemia whose symptoms started by two weeks of age

Effect of the radiographic contrast material iopamidol on hemostasis: An observational study in thirty cardiac patients

Background: In vitro studies have shown that nonionic radiographic contrast material may induce the generation of thrombin in blood, whereas ionic contrast agents, such as iohexol, do not. However, knowledge of the effects of contrast material on coagulation and fibrinolytic systems in vivo is limited. Objective: This study was designed to assess the effects of the nonionic radiographic contrast material iopamidol on hemostasis in patients undergoing coronary angiography or cardiac catheterization. Methods: Patients aged ?18 years with chest pain and/or dyspnea who underwent coronary angiography or cardiac catheterization with intra-arterial contrast material were assessed for hemostasis. Blood samples were drawn before and 3 minutes after injection of iopamidol. Complete blood count and coagulation profile (bleeding time, clotting time, clot retraction time, euglobulin lysis time [ELT], prothrombin and partial thromboplastin times, coagulation factor I [CFI] level, and platelet factor 3 [PF-3] availability) were assessed. The natural coagulation inhibitors protein C, protein S, and antithrombin III (AT-III) also were measured. Results: Thirty patients (7 males, 23 females; mean [SD] age, 51.3 [20.2] years; range, 17-79 years) were included in this single-center study. All hematologic variables (hemoglobin, white blood cell count, and platelet count) decreased significantly (P < 0.001, P < 0.001, and P < 0.05, respectively) after administration of iopamidol but remained within normal limits. Mean levels of protein C, protein S, and AT-III did not change significantly after administration of iopamidol. Bleeding time was not changed significantly, and PF-3 availability was prolonged in both groups, but the changes were not statistically significant. Conclusions: In this study population, although hemostasis remained grossly intact after injection of nonionic contrast material, the coagulation system may have been affected by the accelerated consumption of CFI and platelets. The affected variables were platelets, clot retraction time, ELT, and natural coagulation inhibitors (protein C, protein S, and AT-III). Although the natural coagulation inhibitors remained within the normal range, the correlations were found significant. These changes in hemostasis affected the vascular phase. If the vascular compartment, especially the endothelium, remained intact, the infusion of nonionic agents in low concentrations might be safe for angiography and other procedures; however, more studies are needed. Copyright © 2003 Excerpta Medica, Inc

The usage of remifentanil and alfentanil in alleviating pain and anxiety during bone marrow aspiration in pediatric patients

Aims: To investigate the efficacy and safety of remifentanil and alfentanil compared with local anesthesia in providing analgesia and sedation during bone marrow aspiration procedures. Methods: Seventy-four children who underwent a diagnostic bone marrow aspiration were included in this study. Patients were assigned to one of 3 treatment groups (remifentanil, alfentanil and local anesthesia). Vital signs, sedation, pain scores, and somatic responses were recorded during and after bone marrow aspiration procedure. Results: There were no statistical differences between pain scores of the remifentanil group and the alfentanil group. Pain scores were significantly higher in the local anesthesia group compared with the other groups. None of the patients in the study had deep sedation, hypotension, bradycardia, hypoxemia, or respiratory depression. Conclusions: Remifentanil and alfentanil are effective in children and can be used safely in bone marrow aspiration procedure

Serial urological interventions including circumcision in a hemophilic child with inhibitors

PubMedID: 21519231Hemophilia patients sometimes need careful treatment of urgent serious bleedings and management of some surgeries. Development of inhibitor has some impact on the management of these situations. Here a case of patient of hemophilia A is presented in whom urological surgery resulted in inhibitor development and a second operation with bypass agent. © 2011 Wolters Kluwer Health | Lippincott Williams &Wilkins