Cr Depletion

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Lijin Dong - One of the best experts on this subject based on the ideXlab platform.

Qunjia Peng - One of the best experts on this subject based on the ideXlab platform.

Giovanni Cioni - One of the best experts on this subject based on the ideXlab platform.

  • Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.
    Orphanet journal of rare diseases, 2017
    Co-Authors: Roberta Battini, Michela Tosetti, M. Grazia Alessandrì, Claudia Casalini, Manuela Casarano, Giovanni Cioni
    Abstract:

    Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of Creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os. Serial examinations by magnetic resonance spectroscopy are required to evaluate Cr recovery in brain during treatment of high doses of Cr per os, which have been proved beneficial and effective in treating main clinical symptoms. A long term study with detailed reports on clinical, neurochemical and neuropsychological outcomes of the first Italian patients affected by AGAT-d here reported can represent a landmark in management of this disorder thus enhancing medical knowledge and clinical practice. We have evaluated the long term effects of Cr supplementation management in four Italian patients affected by AGAT-d, correlating specific treatments with serial clinical, biochemical and magnetic resonance spectroscopy examinations as well as the neuropsychological outcome by standardized developmental scales. Consecutive MRS examinations have confirmed that Cr Depletion in AGAT-d patients is reversible under Cr supplementation. Cr treatment is considered safe and well tolerated but side effects, including weight gain and kidney stones, have been reported. Early treatment prevents adverse developmental outcome, while patients diagnosed and treated at an older age showed partial but significant cognitive recovery with clear improvements in adaptive functioning.

  • language disorder with mild intellectual disability in a child affected by a novel mutation of slc6a8 gene
    Molecular Genetics and Metabolism, 2011
    Co-Authors: Roberta Battini, Michela Tosetti, Manuela Casarano, Anna Maria Chilosi, Francesca Moro, Alessandro Comparini, Maria Grazia Alessandri, Vincenzo Leuzzi, Giovanni Cioni
    Abstract:

    Abstract We desCribe the clinical and molecular features of a child harboring a novel mutation in SLC6A8 gene in association with a milder phenotype than other Creatine transporter (CT1) deficient patients (OMIM 300352) [1–7]. The mutation c.757 G>C p.G253R in exon 4 of SLC6A8 was hemizygous in the child, aged 6 years and 6 months, who showed mild intellectual disability with severe speech and language delay. His carrier mother had borderline intellectual functioning. Although the neurochemical and biochemical parameters were fully consistent with those reported in the literature for subjects with CT1 deficit, in our patient within a general cognitive disability, a disCrepancy between nonverbal and verbal skills was observed, confirming the peculiar vulnerability of language development under brain Cr Depletion.

  • arginine and glycine stimulate Creatine synthesis in Creatine transporter 1 deficient lymphoblasts
    Analytical Biochemistry, 2008
    Co-Authors: Vincenzo Leuzzi, Manuela Casarano, Roberta Battini, Maria Grazia Alessandri, Giovanni Cioni
    Abstract:

    Creatine transporter 1 (CT1) defect is an X-linked disease that causes severe neurological impairment. No treatment has been available for this condition so far. Because the transport of Creatine (Cr) precursors Gly and Arg is not affected in this disorder, we tested the possible corrective effect of these two amino acids on Cr Depletion in lymphoblasts lacking the transporter. Substrates enriched with Arg or Arg plus Gly inCreased the concentration of intracellular Cr in affected cells as well as in control cells. The greatest effect was obtained with 10 and 15 mM Arg and 10 mM Arg plus Gly. These results encourage an in vivo trial with Cr precursors in CT1 defect.

Xiaodong Lin - One of the best experts on this subject based on the ideXlab platform.

  • corrosion of phase and phase boundary in proton irradiated 308l stainless steel weld metal in simulated pwr primary water
    Corrosion Science, 2020
    Co-Authors: Qunjia Peng, Xiaodong Lin, Enhou Han, Jinna Mei, Lijie Qiao, Zhijie Jiao
    Abstract:

    Abstract The corrosion of austenite and δ-ferrite phases and the respective phase boundary was investigated in unirradiated and proton-irradiated 308 L stainless steel weld metal in a simulated-PWR environment. The results revealed that the inner oxide thickness was inCreased by irradiation for austenite but was largely unaffected for δ-ferrite. This behavior was attributed to the fact that irradiation generated numerous structure defects in austenite, but not in δ-ferrite. Following the 3-dpa (displacements per atom) irradiation, enhanced corrosion of δ-ferrite/austenite phase boundary occurred due to the irradiation-induced Cr-Depletion. M23C6 carbides along the phase boundary further enhanced corrosion regardless of the irradiation condition.

  • irradiation induced segregation at phase boundaries in austenitic stainless steel weld metal
    Scripta Materialia, 2018
    Co-Authors: Qunjia Peng, Xiaodong Lin, Enhou Han, Chen Sun, Zhijie Jiao
    Abstract:

    Abstract Irradiation-induced segregation (RIS) at phase boundaries in austenitic stainless steel weld metal was studied using atom probe tomography. Irradiation induced Depletion of Cr and Mn and enrichment of Ni and Si at the δ-ferrite/austenite, δ-ferrite/carbide and austenite/carbide phase boundaries. The vacancy mechanism and the solute-defect binding model were applied to interpret the RIS at the phase boundaries. The concentration gradients of Cr and Ni at the phase boundary regions reduced Cr Depletion but promoted Ni segregation, which caused a difference with the RIS at the grain boundary.

Wei Ke - One of the best experts on this subject based on the ideXlab platform.