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Prenatal Diagnosis of Mucolipidosis Type II: Comparison of Biochemical and Molecular Analyses
Kosuga, Motomichi,Okada, Michiyo,Migita, Osuke,Tanaka, Toju,Sago, Haruhiko,Okuyama, Torayuki Association for Research of MPS and Rare Diseases 2016 Journal of mucopolysaccharidosis and rare disease Vol.2 No.1
Purpose: Mucolipidosis type II (ML II), also known as I-cell disease is an autosomal recessive inherited disorder of lysosomal enzyme transport caused by a deficiency of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase). Clinical manifestations are skeletal abnormalities, mental retardation, cardiac disease, and respiratory complications. A severely and rapidity progressive clinical course leads to death before 10 years of age. Methods/Results: In this study we diagnosed three cases of prenatal ML II in two different at-risk families. We compared two procedures -biochemical analysis and molecular analysis - for the prenatal diagnosis of ML II. Both methods require an invasive procedure to obtain specimens for the diagnosis. Biochemical analysis requires obtaining cell cultures from amniotic fluid for more than two weeks, and would result in a late diagnosis at 19 to 22 weeks of gestation. Molecular genetic testing by direct sequence analysis is usually possible when mutations are confirmed in the proband. Molecular analysis has an advantage in that it can be performed during the first-trimester. Conclusion: Molecular diagnosis is a preferable method when a prompt decision is necessary.
Hysteresis and fast timescales in transport relations of toroidal plasmas
Itoh, K.,Itoh, S.-I.,Ida, K.,Inagaki, S.,Kamada, Y.,Kamiya, K.,Dong, J.Q.,Hidalgo, C.,Evans, T.,Ko, W.H.,Park, H.,Tokuzawa, T.,Kubo, S.,Kobayashi, T.,Kosuga, Y.,Sasaki, M.,Yun, G.S.,Song, S.D.,Kasuya, International Atomic Energy Agency 2017 Nuclear fusion Vol.57 No.10
<P>This article assesses current understanding of hysteresis in transport relations, and its impact on the field. The rapid changes of fluxes compared to slow changes of plasma parameters are overviewed for both core and edge plasmas. The modulation ECH experiment is explained, in which the heating power cycles on-and-off periodically, revealing hysteresis and fast changes in the gradient–flux relation. The key finding is that hystereses were observed simultaneously in both the the gradient–flux and gradient–fluctuation relations. Hysteresis with rapid timescale exists in the channels of energy, electron and impurity densities, and plausibly in momentum. Advanced methods of data analysis are explained. Transport hysteresis can be studied by observing the higher harmonics of temperature perturbation <img ALIGN='MIDDLE' ALT='$\delta T_{\rm m}$ ' SRC='http://ej.iop.org/images/0029-5515/57/10/102021/nfaa796aieqn001.gif'/> in heating modulation experiments. The hysteresis introduces the term <img ALIGN='MIDDLE' ALT='$\delta T_{\rm m}$ ' SRC='http://ej.iop.org/images/0029-5515/57/10/102021/nfaa796aieqn002.gif'/>, which depends on the harmonic number <I>m</I> in an algebraic manner (not exponential decay). Next, the causes of hysteresis and its fast timescale are discussed. The nonlocal-in-space coupling works here, but does not suffice. One mechanism for ‘the heating heats turbulence’ is that the external source <I>S</I> in phase space for heating has its fluctuation in turbulent plasma. This coupling can induce the direct input of heating power into fluctuations. The height of the jump in transport hysteresis is smaller for heavier hydrogen isotopes, and could be one of the origins of isotope effects on confinement. Finally, the impacts of transport hysteresis on the control system are assessed. Control systems must be designed so as to protect the system from sudden plasma loss.</P>