The Experts below are selected from a list of 294 Experts worldwide ranked by ideXlab platform

Alessio Massimo - One of the best experts on this subject based on the ideXlab platform.

  • Ceruloplasmin replacement therapy ameliorates Neurological symptoms in a preclinical model of aceruloplasminemia
    'EMBO', 2018
    Co-Authors: Zanardi Alan, Enrica Gilberti, Conti Antonio, Cremonesi Marco, D'adamo Patrizia, Apostoli Pietro, Cannistraci, Carlo Vittorio, Piperno Alberto, David Samuel, Alessio Massimo
    Abstract:

    Aceruloplasminemia is a monogenic disease caused by mutations in the ceruloplasmin gene that result in loss of protein ferroxidase activity. Ceruloplasmin plays a role in iron homeostasis, and its activity impairment leads to iron accumulation in liver, pancreas, and brain. Iron deposition promotes diabetes, retinal degeneration, and progressive neurodegeneration. Current therapies mainly based on iron chelation, partially control systemic iron deposition but are ineffective on neurodegeneration. We investigated the potential of ceruloplasmin replacement therapy in reducing the Neurological Pathology in the ceruloplasmin-knockout (CpKO) mouse model of aceruloplasminemia. CpKO mice were intraperitoneal administered for 2 months with human ceruloplasmin that was able to enter the brain inducing replacement of the protein levels and rescue of ferroxidase activity. Ceruloplasmin-treated mice showed amelioration of motor incoordination that was associated with diminished loss of Purkinje neurons and reduced brain iron deposition, in particular in the choroid plexus. Computational analysis showed that ceruloplasmin-treated CpKO mice share a similar pattern with wild-type animals, highlighting the efficacy of the therapy. These data suggest that enzyme replacement therapy may be a promising strategy for the treatment of aceruloplasminemia

Massimo Alessio - One of the best experts on this subject based on the ideXlab platform.

  • Ceruloplasmin replacement therapy ameliorates Neurological symptoms in a preclinical model of aceruloplasminemia
    EMBO molecular medicine, 2017
    Co-Authors: Alan Zanardi, Alberto Piperno, Antonio Conti, Marco Cremonesi, Patrizia D'adamo, Enrica Gilberti, Pietro Apostoli, Carlo Vittorio Cannistraci, Samuel David, Massimo Alessio
    Abstract:

    Abstract Aceruloplasminemia is a monogenic disease caused by mutations in the ceruloplasmin gene that result in loss of protein ferroxidase activity. Ceruloplasmin plays a role in iron homeostasis, and its activity impairment leads to iron accumulation in liver, pancreas, and brain. Iron deposition promotes diabetes, retinal degeneration, and progressive neurodegeneration. Current therapies mainly based on iron chelation, partially control systemic iron deposition but are ineffective on neurodegeneration. We investigated the potential of ceruloplasmin replacement therapy in reducing the Neurological Pathology in the ceruloplasmin‐knockout (CpKO) mouse model of aceruloplasminemia. CpKO mice were intraperitoneal administered for 2 months with human ceruloplasmin that was able to enter the brain inducing replacement of the protein levels and rescue of ferroxidase activity. Ceruloplasmin‐treated mice showed amelioration of motor incoordination that was associated with diminished loss of Purkinje neurons and reduced brain iron deposition, in particular in the choroid plexus. Computational analysis showed that ceruloplasmin‐treated CpKO mice share a similar pattern with wild‐type animals, highlighting the efficacy of the therapy. These data suggest that enzyme replacement therapy may be a promising strategy for the treatment of aceruloplasminemia.

Enrica Gilberti - One of the best experts on this subject based on the ideXlab platform.

  • Ceruloplasmin replacement therapy ameliorates Neurological symptoms in a preclinical model of aceruloplasminemia
    'EMBO', 2018
    Co-Authors: Zanardi Alan, Enrica Gilberti, Conti Antonio, Cremonesi Marco, D'adamo Patrizia, Apostoli Pietro, Cannistraci, Carlo Vittorio, Piperno Alberto, David Samuel, Alessio Massimo
    Abstract:

    Aceruloplasminemia is a monogenic disease caused by mutations in the ceruloplasmin gene that result in loss of protein ferroxidase activity. Ceruloplasmin plays a role in iron homeostasis, and its activity impairment leads to iron accumulation in liver, pancreas, and brain. Iron deposition promotes diabetes, retinal degeneration, and progressive neurodegeneration. Current therapies mainly based on iron chelation, partially control systemic iron deposition but are ineffective on neurodegeneration. We investigated the potential of ceruloplasmin replacement therapy in reducing the Neurological Pathology in the ceruloplasmin-knockout (CpKO) mouse model of aceruloplasminemia. CpKO mice were intraperitoneal administered for 2 months with human ceruloplasmin that was able to enter the brain inducing replacement of the protein levels and rescue of ferroxidase activity. Ceruloplasmin-treated mice showed amelioration of motor incoordination that was associated with diminished loss of Purkinje neurons and reduced brain iron deposition, in particular in the choroid plexus. Computational analysis showed that ceruloplasmin-treated CpKO mice share a similar pattern with wild-type animals, highlighting the efficacy of the therapy. These data suggest that enzyme replacement therapy may be a promising strategy for the treatment of aceruloplasminemia

  • Ceruloplasmin replacement therapy ameliorates Neurological symptoms in a preclinical model of aceruloplasminemia
    EMBO molecular medicine, 2017
    Co-Authors: Alan Zanardi, Alberto Piperno, Antonio Conti, Marco Cremonesi, Patrizia D'adamo, Enrica Gilberti, Pietro Apostoli, Carlo Vittorio Cannistraci, Samuel David, Massimo Alessio
    Abstract:

    Abstract Aceruloplasminemia is a monogenic disease caused by mutations in the ceruloplasmin gene that result in loss of protein ferroxidase activity. Ceruloplasmin plays a role in iron homeostasis, and its activity impairment leads to iron accumulation in liver, pancreas, and brain. Iron deposition promotes diabetes, retinal degeneration, and progressive neurodegeneration. Current therapies mainly based on iron chelation, partially control systemic iron deposition but are ineffective on neurodegeneration. We investigated the potential of ceruloplasmin replacement therapy in reducing the Neurological Pathology in the ceruloplasmin‐knockout (CpKO) mouse model of aceruloplasminemia. CpKO mice were intraperitoneal administered for 2 months with human ceruloplasmin that was able to enter the brain inducing replacement of the protein levels and rescue of ferroxidase activity. Ceruloplasmin‐treated mice showed amelioration of motor incoordination that was associated with diminished loss of Purkinje neurons and reduced brain iron deposition, in particular in the choroid plexus. Computational analysis showed that ceruloplasmin‐treated CpKO mice share a similar pattern with wild‐type animals, highlighting the efficacy of the therapy. These data suggest that enzyme replacement therapy may be a promising strategy for the treatment of aceruloplasminemia.

Jocelyne Tessier - One of the best experts on this subject based on the ideXlab platform.

  • observations on the function of the female urethra ii relation between maximum urethral closure pressure at rest and the degree of urethral incompetence
    Neurourology and Urodynamics, 2004
    Co-Authors: Erik Schick, Pierre E Bertrand, Martine Jolivettremblay, Charles Dupont, Jocelyne Tessier
    Abstract:

    Aims To study the relation between maximum urethral closure pressure (MUCP) at rest and the degree of urethral incompetence in the female. Patients and Methods Two hundred fifty five patients aged 20 years or older, with stable bladders on multichannel urodynamics, without known Neurological Pathology, and with no previous history of pelvic or anti-incontinence surgery were included in the study. Resting urethral pressure profile (UPP) and the grade of urethral incompetence was registered. Results Mean age of the group was 45.6±12.7 years; mean MUCP was 62.7±28.5 cm of water. There was a statistically significant difference in the MUCP when the different grades of urethral incompetence were compared to each other, the higher grades being associated with a lower maximal closure pressure. Conclusions This study demonstrates that there is a highly significant relationship between MUCP and between all grades of urethral incompetence. This supports previous observations that MUCP decreases when abdominal leak point pressure (ALPP) is low and that this might be secondary to some mechanical failure in the pressure transmission from the abdominal cavity to the urethra. Studies should never compare continent to incontinent cohorts without considering their ALPP because in doing so they are comparing groups that are functionally heterogeneous. Neurourol. Urodynam. 23:16–21, 2004. © 2003 Wiley-Liss, Inc.

  • observations on the function of the female urethra i relation between maximum urethral closure pressure at rest and urethral hypermobility
    Neurourology and Urodynamics, 2003
    Co-Authors: Erik Schick, Pierre E Bertrand, Charles Dupont, Jocelyne Tessier, Martine Jolivettremblay
    Abstract:

    Aims To study the relation between maximum urethral closure pressure at rest and urethral hypermobility in female patients. Patients and Methods We selected 255 patients aged 20 years and older, with a stable bladder on multichannel urodynamics, without known Neurological Pathology, and without a history of pelvic or anti-incontinence surgery. A resting urethral pressure profile and the degree of urethral hypermobility were registered. Two-tailed analyses of variance (ANOVA) with Fisher's post-hoc tests were used to detect any statistically significant difference (P < 0.05) in urethral closure pressure between groups with varying degrees of urethral hypermobility. Results Mean age was 45.6 ± 12.7 (range 20–77) years. Mean maximum urethral closure pressure for the entire group was 62.7 ± 29 (range 10–150) cm of water. A statistically significant inverse relationship was found between age and maximum urethral closure pressure (r = 0.489, P < 0.0001) when both analyzed as continuous variables, and with age categorized in 10-year increments (P < 0.0001). When comparing mean urethral closure pressure in each group examined for urethral hypermobility, a statistically significant difference was noted when grades I, II, and III were compared to grade 0 hypermobility. No significant difference was observed when grades I, II, and III were compared to each other. Even if statistically non-significant, there exists an inverse relationship between the degree of urethral hypermobility and the maximum urethral closure pressure: a higher hypermobility is associated with a lesser urethral closure pressure. Conclusions Urethral closure pressure falls significantly when urethral hypermobility is present. This decrease is not related to patient's age or parity. Our observations demonstrate an inverse relation between urethral closure pressure and the degree of cysto-urethrocele. As hypermobility increases, closure pressure decreases, even if this decrease does not reach the level of statistical significance. Neurourol. Urodynam. 22:643–647, 2003. © 2003 Wiley-Liss, Inc.

Martine Jolivettremblay - One of the best experts on this subject based on the ideXlab platform.

  • observations on the function of the female urethra ii relation between maximum urethral closure pressure at rest and the degree of urethral incompetence
    Neurourology and Urodynamics, 2004
    Co-Authors: Erik Schick, Pierre E Bertrand, Martine Jolivettremblay, Charles Dupont, Jocelyne Tessier
    Abstract:

    Aims To study the relation between maximum urethral closure pressure (MUCP) at rest and the degree of urethral incompetence in the female. Patients and Methods Two hundred fifty five patients aged 20 years or older, with stable bladders on multichannel urodynamics, without known Neurological Pathology, and with no previous history of pelvic or anti-incontinence surgery were included in the study. Resting urethral pressure profile (UPP) and the grade of urethral incompetence was registered. Results Mean age of the group was 45.6±12.7 years; mean MUCP was 62.7±28.5 cm of water. There was a statistically significant difference in the MUCP when the different grades of urethral incompetence were compared to each other, the higher grades being associated with a lower maximal closure pressure. Conclusions This study demonstrates that there is a highly significant relationship between MUCP and between all grades of urethral incompetence. This supports previous observations that MUCP decreases when abdominal leak point pressure (ALPP) is low and that this might be secondary to some mechanical failure in the pressure transmission from the abdominal cavity to the urethra. Studies should never compare continent to incontinent cohorts without considering their ALPP because in doing so they are comparing groups that are functionally heterogeneous. Neurourol. Urodynam. 23:16–21, 2004. © 2003 Wiley-Liss, Inc.

  • observations on the function of the female urethra i relation between maximum urethral closure pressure at rest and urethral hypermobility
    Neurourology and Urodynamics, 2003
    Co-Authors: Erik Schick, Pierre E Bertrand, Charles Dupont, Jocelyne Tessier, Martine Jolivettremblay
    Abstract:

    Aims To study the relation between maximum urethral closure pressure at rest and urethral hypermobility in female patients. Patients and Methods We selected 255 patients aged 20 years and older, with a stable bladder on multichannel urodynamics, without known Neurological Pathology, and without a history of pelvic or anti-incontinence surgery. A resting urethral pressure profile and the degree of urethral hypermobility were registered. Two-tailed analyses of variance (ANOVA) with Fisher's post-hoc tests were used to detect any statistically significant difference (P < 0.05) in urethral closure pressure between groups with varying degrees of urethral hypermobility. Results Mean age was 45.6 ± 12.7 (range 20–77) years. Mean maximum urethral closure pressure for the entire group was 62.7 ± 29 (range 10–150) cm of water. A statistically significant inverse relationship was found between age and maximum urethral closure pressure (r = 0.489, P < 0.0001) when both analyzed as continuous variables, and with age categorized in 10-year increments (P < 0.0001). When comparing mean urethral closure pressure in each group examined for urethral hypermobility, a statistically significant difference was noted when grades I, II, and III were compared to grade 0 hypermobility. No significant difference was observed when grades I, II, and III were compared to each other. Even if statistically non-significant, there exists an inverse relationship between the degree of urethral hypermobility and the maximum urethral closure pressure: a higher hypermobility is associated with a lesser urethral closure pressure. Conclusions Urethral closure pressure falls significantly when urethral hypermobility is present. This decrease is not related to patient's age or parity. Our observations demonstrate an inverse relation between urethral closure pressure and the degree of cysto-urethrocele. As hypermobility increases, closure pressure decreases, even if this decrease does not reach the level of statistical significance. Neurourol. Urodynam. 22:643–647, 2003. © 2003 Wiley-Liss, Inc.