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261 results on '"Jı G"'

254. List of contributors

Author

Ajisafe, O., Cui, H.P., Deng, W., Ding, Z., Du, P., Hansen, C.J., Hayes, S.A., Huang, W.M., Hughes, A.E., Ji, G., John, M., Jones, F.R., Lafferty, A.D., Li, G., Lu, H., Meng, H., Nji, J., Rong, M.Z., Shojaei, A., Song, C.L., Swait, T.J., Tang, C., Varley, R.J., Wang, C.C., Wang, X., Wei, J., You, Y., Zhang, A., Zhang, M.Q., Zhang, P., Zhao, Y., and Zhu, D.Y.

Published
2015
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257. The large-volume detector (LVD) - a multipurpose underground detector at Gran Sasso

Author

Bari, G., Basile, M., Bruni, G., Cara Romeo, G., Castelvetri, A., Cifarelli, L., Contin, A., Del Papa, C., Giusti, P., Iacobucci, G., Maccarrone, G., Massam, T., Nania, R., O'Shea, V., Palmonari, F., Perotto, E., Sartorelli, G., Willutzky, M., Aryal, M., De, K., Shapiro, A.M., Widgoff, M., Chincellato, J.A., Dobrigkeit-Chincellato, C., Fauth, A.C., Turtelli, A., Rohrbach, F., Zichichi, A., Caputi, L., Susinno, G., Barbagli, G., Conforto, G., Landi, G., Pelfer, P., Anzivino, G., Bianco, S., Casaccia, R., Cindolo, F., Defelice, M., Dong, Y., Enorini, M., Fabbri, F.L., Jing, C., Laakso, I., Qian, S., Shi, Z., Spallone, A., Sun, Y., Votano, L., Zallo, A., Lau, K., Lipps, F., Mayes, B., Mo, G.H., Pinsky, L., Pyrlik, J., Sanders, D., Sheldon, W.R., Weinstein, R., Dai, Y., Din, L., Jing, G., Lu, Z., Shen, P., Zhu, Q., Alyea, D., Kitamura, T., Minorikawa, Y., Di Sciascio, G., Scrimaglio, R., Rotelli, P., Kocharov, G.E., Vasileyev, V., Deutsch, M., Hafen, E.S., Haridas, P., Jeckelmann, B., Ji, G., Huang, H.H., Mao, C.S., Pitas, A., Pless, I.A., Wang, S.W., Wu, Y.R., Yuan, Y.R., Zhao, C.Z., Berezinsky, V.S., Dadykin, V.L., Khaichukov, F.F., Korolkova, E.V., Kortchaguin, P.V., Kortchaguin, V.B., Kudryavtsev, V.A., Markov, A.S., Ryassny, V.G., Ryazhskaya, O.G., Talochkin, V.P., Yakushev, V.F., Zatsepin, G.T., Moromisato, J., Saletan, E., Shambroom, D., Von Goeler, E., Takahashi, N., Yamamoto, I., Wada, T., D'Ali, G., De Pasquale, S., Alpat, B., Artemi, F., Italiani, M., Diodati, P., Salvadori, P., Misaki, A., Inoue, N., Hara, T., Aglietta, C., Badino, G., Bergamasco, L., Castagnoli, C., Castellina, A., Cini, G., Dardo, M., Fulgione, W., Galeotti, P., Ghia, P., Morello, C., Navarra, G., Periale, L., Picchi, P., Saavedra, O., Trinchero, G.C., Vallania, P., Vernetto, S., Grianti, F., and Vetrano, F.

Published
1989
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258. LVD at Gran Sasso

Author

Bari, C., Basile, M., Bruni, G., Cara Romeo, G., Castelvetri, A., Cifarelli, L., Contin, A., Del Papa, C., Giusti, P., Iacobucci, G., Maccarrone, G., Massam, T., Nania, R., O'Shea, V., Palmonari, F., Perotto, E., Prisco, G., Sartorelli, G., Willutzky, M., Chincellato, J.A., Dobrigkeit Chincellato, C., Fauth, A.C., Turtelli, A., De, K., Shapiro, A.M., Widgoff, M., Rohrbach, F., Zichichi, A., Caputi, P., Susino, G.L., Barbagli, G., Confronto, G., Landi, G., Pelfer, P., Bianco, S., Anzivino, G., Casaccia, R., Cindolo, F., Enorini, M., Fabbri, F., Laakso, I., Qian, S., Rindi, A., Spallone, A., Votano, L., Zallo, A., Lau, K., Lipps, F., Mayes, B., Mo, G.H., Pinsky, L., Pyrlik, J., Sanders, D., Sheldon, W.R., Weinstein, R., Dai, Y., Din, L., Jing, C., Jing, G., Lu, Z., Shen, P., Zhu, Q., Alyea, D., Di Sciascio, G., Scrimaglio, R., Rotelli, P., Kocharov, G.E., Deutsch, M., Hafen, E.S., Haridas, P., Jeckelmann, B., Ji, G., Kuang, H.H., Pitas, A., Pless, I.A., Yuan, Y., Zhao, C.Z., Berezinski, V.S., Dadykin, V.L., Khalchukov, F.F., Korolkova, E.V., Kortchaguin, P.V., Kortchaguin, V.B., Kudryavtsev, V.A., Malguin, A.S., Markov, M.A., Ryassny, V.G., Ryazhskaya, O.G., Talochkin, V.P., Yakushev, V.F., Zatsepin, G.T., Moromisato, J., Saletan, E., Shambroom, D., von Goeler, E, D'Ali, G., de Pasquale, S., Alpat, B., Artemi, F., Cappelletti, C., Diodati, P., Salvadori, P., Aglietta, C., Badino, G., Bergamasco, L., Castagnoli, C., Castellina, A., Cini, G., Dardo, M., Fulgione, W., Galeotti, P., Morello, C., Navarra, G., Periale, L., Picchi, P., Saavedra, O., Trinchero, G.C., Vallania, P., Vernetto, S., Grianti, F., and Vetrano, F.

Published
1988
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261. The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.

Author

Han J, Lu S, Song X, Jı G, Xıe Y, and Wu H

Subjects
Humans, Electron-Transferring Flavoproteins genetics, Electron-Transferring Flavoproteins metabolism, Mutation genetics, Oxidoreductases Acting on CH-NH Group Donors genetics, Oxidoreductases Acting on CH-NH Group Donors metabolism, Iron-Sulfur Proteins genetics, Iron-Sulfur Proteins therapeutic use, Multiple Acyl Coenzyme A Dehydrogenase Deficiency drug therapy, Multiple Acyl Coenzyme A Dehydrogenase Deficiency genetics
Abstract

Background: The lipid storage myopathy (LSM) diagnosis is based on the patient's clinical manifestations and muscle pathology. However, when genetic testing is lacking, there is a high rate of misdiagnosis of the disease. This study aimed to investigate the clinical and pathological features of genetically diagnosed LSM in northern China, analyze genetic mutations' characteristics, and improve the LSM diagnostic rate., Methods: Twenty patients with LSM diagnosed were collected; meanwhile, the clinical data, muscle samples, and routine pathological staining of muscle specimens were collected. The morphological changes of muscle fibers were observed under an optical microscope., Results: Among the included patients, 18 cases had ETFDH (HGNC ID: 3483) mutations, and two had PNPLA2 mutations. Family pedigree verification was performed on three patients with heterozygous mutations in the ETFDH gene complex. Histopathological staining showed that all patients had fine vacuoles in the muscle fibers, and some of them merged to form fissures, and the lipid droplets increased in cells. After therapy, 18 patients were associated with a favorable prognosis, and two patients were ineffective with the treatment of neutral lipid storage myopathy (NLSDM) caused by PNPLA2 mutation., Discussion: The clinical manifestations of LSM are complex and diverse, mainly manifested by proximal muscle weakness and exercise intolerance in the extremities. The pathological images of LSM muscles are abnormal storage of lipid droplets in muscle fibers, primarily involving type I fibers. The LSM patients were mainly multiple acyl-CoA dehydrogenase deficiency (MADD) caused by the ETFDH gene mutation. It is necessary to perform an accurate typing diagnosis of LSM.

Published
2022
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