La cystinose est une maladie rare caractérisée par une accumulation intra-lysosomale de cystine dans les cellules. En l'absence de traitement, les patients souffrent d'une insuffisance rénale terminale vers l'âge de 6 à 8 ans. Plusieurs options thérapeutiques existent pour les patients atteints de cystinose, mais aucune ne peut les guérir définitiv...
Cystinosis is an autosomal recessive metabolic disease characterized by lysosomal accumulation of cystine in all the cells of the body. Infantile cystinosis begins in infancy by a renal Fanconi syndrome and eventually leads to multi-organ failure, including the kidney, eye, thyroid, muscle, and pancreas, eventually causing premature death in early ...
Tsallis q-Gaussian functions are probability distributions possessing a shape which can be stretched from a Lorentzian to a Gaussian profile, according to the q-index parameter of their generalized exponentials. As we have previously shown, the q-Gaussian functions can be successfully applied to the deconvolution of Raman bands. Here we consider th...
Published in Molecular Genetics and Metabolism
Global COVID-19 pandemic is caused by infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Continuous emergence of new variants and their rapid spread are jeopardizing vaccine countermeasures to a significant extent. While currently available vaccines are effective at preventing illness associated with SARS-CoV-2 infection, ...
Published in Pediatric nephrology (Berlin, Germany)
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by kidney and extra-renal complications due to the accumulation of cystine crystals in various tissues and organs. Herein, we describe the early neuromuscular complications in a cohort of pediatric nephropathic cystinosis patients. We prospectively evalua...
Early diagnosis and effective therapy are essential for improving the overall prognosis and quality of life of patients with nephropathic cystinosis. The severity of kidney dysfunction and the multi-organ involvement as a consequence of the increased intracellular concentration of cystine highlight the necessity of accurate monitoring of intracellu...
The development of effective therapeutics to treat patients with acute myeloid leukemia (AML) has been challenged by the heterogeneous molecular landscape of the disease. One strategy to overcome the variability of therapeutic efficacy is to identify and target a universal cellular process upon which cancer cells are particularly dependent. Maligna...
Published in Archives of dermatological research
This study was aimed at evaluating the efficacy of Tranexamic Acid (TA) mesotherapy versus cysteamine 5% cream in the treatment of melasma. This single-blind, randomized clinical trial was conducted among 54 subjects between 2018 and 2019. Cysteamine 5% cream group was instructed to apply the cream on the melasma lesions 30 min before bed for 4 con...
Published in Molecular Brain
Somatostatin-expressing interneurons (SOM-INs) are a major subpopulation of GABAergic cells in CA1 hippocampus that receive excitation from pyramidal cells (PCs), and, in turn, provide feedback inhibition onto PC dendrites. Excitatory synapses onto SOM-INs show a Hebbian long-term potentiation (LTP) mediated by type 1a metabotropic glutamate recept...
Published in Journal of Animal Science and Biotechnology
BackgroundOxidative stress in placenta is associated with the occurrence of adverse pregnancy outcomes in sow, but there are few satisfactory treatment strategies for these conditions. This study investigated the potential of cysteamine (CS) as an antioxidant protectant for regulating the reproductive performance, redox status, and placental angiog...
