The Experts below are selected from a list of 40137 Experts worldwide ranked by ideXlab platform
Zhou Zhou - One of the best experts on this subject based on the ideXlab platform.
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reversible mri findings in a case of acute intermittent porphyria with a novel mutation in the porphobilinogen deaminase gene
Blood Cells Molecules and Diseases, 2017Co-Authors: Jing Yang, Baolai Hua, Tienan Zhu, Yongqiang Zhao, Hang Yang, Qianlong Chen, Huadong Zhu, Zhou ZhouAbstract:Acute intermittent porphyria (AIP) is an autosomal dominant Disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the of heme biosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, and Visual Disorder associated with potentially reversible neuroradiological abnormalities predominantly in the parieto-occipital lobes. Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the PBGD enzyme mutations directly. In this study, we report a 28-year-old woman with acute intermittent porphyria who presented with radiological manifestations suggestive of posterior reversible encephalopathy syndrome, she had a novel PBGD frame shift mutation, base 875 and 876 have been deleted resulting in glutamine to a stop codon (Gln292fs), in a Chinese family.
Jing Yang - One of the best experts on this subject based on the ideXlab platform.
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reversible mri findings in a case of acute intermittent porphyria with a novel mutation in the porphobilinogen deaminase gene
Blood Cells Molecules and Diseases, 2017Co-Authors: Jing Yang, Baolai Hua, Tienan Zhu, Yongqiang Zhao, Hang Yang, Qianlong Chen, Huadong Zhu, Zhou ZhouAbstract:Acute intermittent porphyria (AIP) is an autosomal dominant Disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the of heme biosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, and Visual Disorder associated with potentially reversible neuroradiological abnormalities predominantly in the parieto-occipital lobes. Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the PBGD enzyme mutations directly. In this study, we report a 28-year-old woman with acute intermittent porphyria who presented with radiological manifestations suggestive of posterior reversible encephalopathy syndrome, she had a novel PBGD frame shift mutation, base 875 and 876 have been deleted resulting in glutamine to a stop codon (Gln292fs), in a Chinese family.
Johanna Liinamaa - One of the best experts on this subject based on the ideXlab platform.
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fluoxetine does not enhance the effect of perceptual learning on Visual function in adults with amblyopia
Scientific Reports, 2018Co-Authors: Henri J Huttunen, Matias J Palva, Laura Lindberg, Satu Palva, Ville Saarela, Elina Karvonen, Marjaleena Latvala, Johanna LiinamaaAbstract:Amblyopia is a common Visual Disorder that is treatable in childhood. However, therapies have limited efficacy in adult patients with amblyopia. Fluoxetine can reinstate early-life critical period-like neuronal plasticity and has been used to recover functional vision in adult rats with amblyopia. We conducted a Phase 2, randomized (fluoxetine vs. placebo), double-blind, multicenter clinical trial examined whether or not fluoxetine can improve Visual acuity in amblyopic adults. This interventional trial included 42 participants diagnosed with moderate to severe amblyopia. Subjects were randomized to receive either 20 mg fluoxetine (n = 22) or placebo (n = 20). During the 10-week treatment period, all subjects performed daily computerized perceptual training and eye patching. At the primary endpoint, the mean treatment group difference in Visual acuity improvement was only 0.027 logMAR units (95% CI: −0.057 to 0.110; p = 0.524). However, Visual acuity had significantly improved from baseline to 10 weeks in both fluoxetine (−0.167 logMAR; 95% CI: −0.226 to −0.108; p < 0.001) and placebo (−0.194 logMAR; 95% CI: −0.254 to −0.133; p < 0.001) groups. While this study failed to provide evidence that fluoxetine enhances neuroplasticity, our data support other recent clinical studies suggesting that improvement of vision can be accomplished in adults with amblyopia.
Elina Karvonen - One of the best experts on this subject based on the ideXlab platform.
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fluoxetine does not enhance the effect of perceptual learning on Visual function in adults with amblyopia
Scientific Reports, 2018Co-Authors: Henri J Huttunen, Matias J Palva, Laura Lindberg, Satu Palva, Ville Saarela, Elina Karvonen, Marjaleena Latvala, Johanna LiinamaaAbstract:Amblyopia is a common Visual Disorder that is treatable in childhood. However, therapies have limited efficacy in adult patients with amblyopia. Fluoxetine can reinstate early-life critical period-like neuronal plasticity and has been used to recover functional vision in adult rats with amblyopia. We conducted a Phase 2, randomized (fluoxetine vs. placebo), double-blind, multicenter clinical trial examined whether or not fluoxetine can improve Visual acuity in amblyopic adults. This interventional trial included 42 participants diagnosed with moderate to severe amblyopia. Subjects were randomized to receive either 20 mg fluoxetine (n = 22) or placebo (n = 20). During the 10-week treatment period, all subjects performed daily computerized perceptual training and eye patching. At the primary endpoint, the mean treatment group difference in Visual acuity improvement was only 0.027 logMAR units (95% CI: −0.057 to 0.110; p = 0.524). However, Visual acuity had significantly improved from baseline to 10 weeks in both fluoxetine (−0.167 logMAR; 95% CI: −0.226 to −0.108; p < 0.001) and placebo (−0.194 logMAR; 95% CI: −0.254 to −0.133; p < 0.001) groups. While this study failed to provide evidence that fluoxetine enhances neuroplasticity, our data support other recent clinical studies suggesting that improvement of vision can be accomplished in adults with amblyopia.
Ville Saarela - One of the best experts on this subject based on the ideXlab platform.
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fluoxetine does not enhance the effect of perceptual learning on Visual function in adults with amblyopia
Scientific Reports, 2018Co-Authors: Henri J Huttunen, Matias J Palva, Laura Lindberg, Satu Palva, Ville Saarela, Elina Karvonen, Marjaleena Latvala, Johanna LiinamaaAbstract:Amblyopia is a common Visual Disorder that is treatable in childhood. However, therapies have limited efficacy in adult patients with amblyopia. Fluoxetine can reinstate early-life critical period-like neuronal plasticity and has been used to recover functional vision in adult rats with amblyopia. We conducted a Phase 2, randomized (fluoxetine vs. placebo), double-blind, multicenter clinical trial examined whether or not fluoxetine can improve Visual acuity in amblyopic adults. This interventional trial included 42 participants diagnosed with moderate to severe amblyopia. Subjects were randomized to receive either 20 mg fluoxetine (n = 22) or placebo (n = 20). During the 10-week treatment period, all subjects performed daily computerized perceptual training and eye patching. At the primary endpoint, the mean treatment group difference in Visual acuity improvement was only 0.027 logMAR units (95% CI: −0.057 to 0.110; p = 0.524). However, Visual acuity had significantly improved from baseline to 10 weeks in both fluoxetine (−0.167 logMAR; 95% CI: −0.226 to −0.108; p < 0.001) and placebo (−0.194 logMAR; 95% CI: −0.254 to −0.133; p < 0.001) groups. While this study failed to provide evidence that fluoxetine enhances neuroplasticity, our data support other recent clinical studies suggesting that improvement of vision can be accomplished in adults with amblyopia.
