Objective: Neuronal Intranuclear Inclusion Disease (NIID) is a neurodegenerative disease affecting the central and peripheral nerves. We aimed to assess the pathophysiological features of peripheral nerve dysfunction in NIID.
Methods: We observed six unrelated NIID patients through clinical records, nerve conduction studies, and multiple measures of motor nerve excitability.
Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant.
View Article and Find Full Text PDFCOL4A1-related disorders are characterized by a higher incidence of cerebral hemorrhage than other hereditary cerebral small vessel diseases. Accumulating data have shown broad phenotypic variations, and extracerebral hemorrhages have been linked to these disorders. Moreover, the coexistence of neural tumors has been described.
View Article and Find Full Text PDFNeuromuscul Disord
October 2017
The immunologic effects of rituximab (RTX) in myasthenia gravis (MG) remain to be explored. We aimed to clarify immunologic reactions and their association with response to RTX in MG. Regulatory T cell and B cell profiles of MG patients were monitored.
View Article and Find Full Text PDFCytoskeleton (Hoboken)
March 2013
Sperm morphology is thought to be shaped by evolutionary pressure from the fertilization environment. Rhacophoridae (Amphibia, Anura) include both foam-nesting and nonfoam-nesting species and exhibit a variety of sperm morphologies. Here, we examine the sperm morphology and motility of a foam-nesting Rhacophoridae frog, Polypedates leucomystax.
View Article and Find Full Text PDFA method for calculating the amount of colored soil on a flat metal surface from digital image data was examined. Round samples cut out of SUS tape were soiled with oily soil mixed with sudan III, placed in sample bottles, and washed using a tube rotator. Images of the samples before and after the washing process were captured using a CCD camera and the image data were processed by a computer.
View Article and Find Full Text PDFThe spermatozoa of the Japanese green tree frog, Rhacophorus arboreus (Amphibia, Anura, Rhacophoridae), have a characteristic corkscrew-shaped head and a thick tail that extends perpendicular to the longitudinal axis of the head. We examined the process of spermatogenesis in Rh. arboreus, particularly spermiogenesis, using light and transmission electron microscopy.
View Article and Find Full Text PDFCell Motil Cytoskeleton
May 2009
Fertilization of the green tree frog, Rhacophorus arboreus, occurs in the viscous environment of a foam nest, which is laid on vegetation. Their spermatozoa have a characteristic corkscrew-shaped head and a thick tail that extends perpendicularly to its longitudinal axis. However, it is unclear how these corkscrew-shaped spermatozoa move in this highly viscous environment.
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