Efficacy of high dose steroid treatment in pulmonary hemosiderosis

No Abstract [Med-Science 2018; 7(1.000): 243-244

Cerebral venous thrombosis occurring during oxymetholone therapy

Oxymetholone, an androgen analogue, is widely used in the treatment of Fanconi aplastic anemia (FAA). Androgen is known to cause cerebral venous thrombosis (CVT). A 9-year-old girl under monitoring with a diagnosis of FAA presented to our hospital with severe headache. She had been receiving oxymetholone therapy for 1 year. Neurological examination was normal. Superior sagittal sinus thrombosis was detected at magnetic resonance imagining (MRI) of the brain. The thrombosis was thought to be oxymetholone-related, and oxymetholone therapy was discontinued. The patient was started on enoxoparin therapy and the symptoms resolved. Control images 4 months later were normal. We think that the risk of venous thrombosis must be considered with administering oxymetholone therapy in patients with FAA. [Med-Science 2017; 6(3.000): 576-8

Structural Characteristics in the gamma Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism

Particular fibrinogen gamma chain mutations occurring in the gamma-module induce changes that hamper gamma-gamma dimerization and provoke intracellular aggregation of the mutant fibrinogen, defective export and plasma deficiency. The hepatic storage predisposes to the development of liver disease. This condition has been termed hereditary hypofibrinogenemia with hepatic storage (HHHS). So far, seven of such mutations in the fibrinogen gamma chain have been detected. We are reporting on an additional mutation occurring in a 3.5-year-old Turkish child undergoing a needle liver biopsy because of the concomitance of transaminase elevation of unknown origin and low plasma fibrinogen level. The liver biopsy showed an intra-hepatocytic storage of fibrinogen. The molecular analysis of the three fibrinogen genes revealed a mutation (Fibrinogen Trabzon Thr371Ile) at exon 9 of the gamma chain in the child and his father, while the mother and the brother were normal. Fibrinogen Trabzon represents a new fibrinogen gamma chain mutation fulfilling the criteria for HHHS. Its occurrence in a Turkish child confirms that HHHS can present in early childhood and provides relevant epidemiological information on the worldwide distribution of the fibrinogen gamma chain mutations causing this disease. By analyzing fibrinogen crystal structures and calculating the folding free energy change (Delta Delta G) to infer how the variants can affect the conformation and function, we propose a mechanism for the intracellular aggregation of Fibrinogen Trabzon and other gamma-module mutations causing HHHS

Influence of Paroxysmal Nocturnal Hemoglobinuria Clone Positivity on Outcome of Childhood Acquired Aplastic Anemia: A Multicenter Center Study

60th Annual Meeting of the American-Society-of-Hematology (ASH) -- DEC 01-04, 2018 -- San Diego, CAWOS: 000454842805371Amer Soc Hemato

Central Nervous System Fungal Infections in Children With Leukemia and Undergoing Hematopoietic Stem Cell Transplantation: A Retrospective Multicenter Study

Background: Central nervous system fungal infections (CNSFI) are seen in patients with hematologic malignancies and have high morbidity and mortality. Because of their rarity, there is limited data on CNSFI in children with no established treatment protocols or guidelines