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Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy
J Clin Med Res. 2023 Feb;15(2):76-83. doi: 10.14740/jocmr4843. Epub 2023 Feb 28.ABSTRACTClassical homocystinuria is a hereditary defect of the enzyme cystathionine beta synthase, which is produced in the liver. If this enzyme fails, the synthesis pathway of cysteine from methionine is interrupted, leading to the accumulation of homocysteine in the blood plasma and homocysteine in the urine. After birth, the children are unremarkable except for the characteristic laboratory findings. Symptoms rarely appear before the second year of life. The most common symptom is a prolapse of the crystalline lens. This finding is seen in ...
Source: Clin Med Res - March 10, 2023 Category: Research Authors: Stefan Bittmann Gloria Villalon Elena Moschuring-Alieva Elisabeth Luchter Lara Bittmann Source Type: research

Sickle cell disease as a vascular disorder.
Authors: Ofori-Acquah SF Abstract Introduction: In sickle cell disease (SCD), hemoglobin S (HbS) red blood cells (RBCs) are characteristically deformed and inflexible. Often breaking down in the circulation, they exhibit increased adhesive properties with the endothelium and activated neutrophils and platelets, increasing the risk of occlusion of the microcirculation. SCD is categorized into two sub-phenotypes: hyperhemolytic, associated with priapism, leg ulcers, pulmonary hypertension, and stroke, and high hemoglobin/viscosity, which may promote vaso-occlusion-associated pain, acute chest syndrome, and osteonecro...
Source: Expert Review of Hematology - May 6, 2020 Category: Hematology Tags: Expert Rev Hematol Source Type: research