نتایج جستجو برای: chediak higashi syndrome
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A 2 -year-old girl presented to us with recurrent infections, hepato splenomegaly, and photophobia. On examination she had blond hair with a metallic sheen. The blood smear showed giant lysosomes in the white blood cells (fi gure) and we diagnosed Chediak-Higashi syndrome, a rare autosomal recessive disease (gene CHS1/LYST at 1q42.1-2). There have been around 200 cases reported, and giant cytop...
Three patients with Chediak-Higashi syndrome underwent allogeneic bone marrow transplantation between the ages of 2 years 9 months and 7 years. The outcome was uneventful, with sustained mixed chimerism. No subsequent recurrent infections or hemophagocytic syndrome were observed. At the age of 22 to 24 years, these 3 patients developed a neurologic deficit combining difficulty walking, loss of ...
T. Susaki,1 A. Sekiyama,1 K. Kobayashi,1 T. Mizokawa,1 A. Fujimori,1 M. Tsunekawa,2 T. Muro,2 T. Matsushita,2,* S. Suga,2 H. Ishii,3 T. Hanyu,3 A. Kimura,4 H. Namatame,5 M. Taniguchi,5 T. Miyahara,6 F. Iga,5 M. Kasaya,7 and H. Harima8 1Department of Physics, University of Tokyo, Bunkyo-ku, Tokyo 113, Japan 2Department of Material Physics, Osaka University, Toyonaka, Osaka 560, Japan 2Department...
Kazuhiro Kawamura1,*, Yuan Cheng1, Ying-Pu Sun2, Jun Zhai2, Cesar Diaz-Garcia3, Carlos Simon3,4, Antonio Pellicer3, and Aaron J. Hsueh4,* Department of Ob/Gyn, St. Mariana University, Kawasaki, Japan Reproductive Medical Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China Fundación Instituto Valenciano de Infertilidad (FIVI), ValenciaUniversity and InstitutoUniversit...
To the Editor, Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive inherited disorder characterized by variable degrees of oculocutaneous albinism, severe immune deficiency and unassociated lymphoproliferative syndrome, and intracytoplasmic giant granules in leukocytes, monocytes, platelets, melanocytes, and erythroid precursors [1,2,3,4,5]. CHS is caused by mutations in the lysosomal...
T HE CHEDIAK-HIGASHI SYNDROME (CR5) is characterized by large abnormal cytoplasmic organelles in cells including leukocytes which contain lysosome-like structures. This rare disease is inherited as an autosomal recessive disorder, and the clinical features include partial oculocutaneous albinism, frequent and severe pyogenic infections, and the development of a lymphoma-like ( accelerated ) pha...
Introduction: Chediak-Higashi syndrome is a rare autosomal recessive disorder that characterized by severe immunodeficiency. It is also associated with a lymphoproliferative disorder termed the accelerated phase with lymphocytic infiltration of the major organ of the body. Case Report: The patients was a 1-year old boy with intermittent fever, anorexia, malaise. On physical examination h...
We show that the deformed Virasoro algebra specializes in a certain limit to LepowskyWilson’s Z-algebra. This leads to a free field realization of the affine Lie algebra ŝl2 which respects the principal gradation. We discuss some features of this bosonization including the screening current and vertex operators. Graduate School of Arts and Sciences, The University of Tokyo, Komaba, Tokyo 153-89...
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