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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

Challenge to the Intestinal Mucosa During Sepsis
Conclusion The impact of sepsis on the gut is manifold, e.g., sepsis mediated alteration of the gut-blood barrier and increase in the intestinal permeability, which may correlate with the phenomena of bacterial translocation and lymphatic activation (“toxic-lymph”). Systemic consequences of sepsis are widespread and concern to the coagulative system, the microbiome as well as enzymes, such as pancreatic proteases, MMPs and IAPs. Nevertheless, the therapeutic approaches for modulating the mucosal immune system are still rarely effective in daily routine. Recent published studies showing that treatment with ...
Source: Frontiers in Immunology - April 29, 2019 Category: Allergy & Immunology Source Type: research