赤血球酵素欠乏症
WordNet
- small room in which a monk or nun lives (同)cubicle
- a device that delivers an electric current as the result of a chemical reaction (同)electric cell
- a room where a prisoner is kept (同)jail cell, prison cell
- (biology) the basic structural and functional unit of all organisms; they may exist as independent units of life (as in monads) or may form colonies or tissues as in higher plants and animals
- any small compartment; "the cells of a honeycomb"
- a small unit serving as part of or as the nucleus of a larger political movement (同)cadre
- smear with blood, as in a hunting initiation rite, where the face of a person is smeared with the blood of the kill
- temperament or disposition; "a person of hot blood"
- people viewed as members of a group; "we need more young blood in this organization"
- the fluid (red in vertebrates) that is pumped through the body by the heart and contains plasma, blood cells, and platelets; "blood carries oxygen and nutrients to the tissues and carries away waste products"; "the ancients believed that blood was the sea
- of a color at the end of the color spectrum (next to orange); resembling the color of blood or cherries or tomatoes or rubies (同)reddish, ruddy, blood-red, carmine, cerise, cherry, cherry-red, crimson, ruby, ruby-red, scarlet
- red color or pigment; the chromatic color resembling the hue of blood (同)redness
- the syllable naming the second (supertonic) note of any major scale in solmization (同)ray
PrepTutorEJDIC
- (刑務所の)『独房』;(修道院の)小さい独居室 / (ミツバチの)みつ房,巣穴 / 小さい部屋 / 『細胞』 / 電池 / 花粉室 / (共産党などの)細胞
- 『血』,『血』液 / 流血(bloodshed);殺人 / 気質,気性,血気,血潮 / 『血統』,血縁(kinship);生まれ,家柄;《the~》王家の血統 / (人種・出身国の)系 / 〈人〉‘に'初めての経験をさせる / 〈猟犬〉‘に'初めて獲物を血を味わわせる
- 〈U〉〈C〉『赤,』『赤色;』赤い絵の具(染料) / 〈U〉赤い服 / 〈C〉《しばしば『R-』》《話》《時に軽べつして》アカ,共産主義者;過激論(主義)者 / 〈U〉《通例the ~》(会計の)赤字,負債 / 『赤い』,赤色の / (顔・目などが)赤くなった;血に染った / 赤い服を着た;赤毛の / 《しばしば『R-』》《話》《軽べつして》共産主義の;過激な
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
- レ(全音階の第2音)
UpToDate Contents
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English Journal
- Deficiency of innate and acquired immunity caused by an IKBKB mutation.
- Pannicke U, Baumann B, Fuchs S, Henneke P, Rensing-Ehl A, Rizzi M, Janda A, Hese K, Schlesier M, Holzmann K, Borte S, Laux C, Rump EM, Rosenberg A, Zelinski T, Schrezenmeier H, Wirth T, Ehl S, Schroeder ML, Schwarz K.Author information From the Institute for Transfusion Medicine, University Hospital Ulm (U.P., C.L., H.S., K.S.), the Institute of Physiological Chemistry (B.B., T.W.), the Center for Biomedical Research, Genomics Core Facility (K. Holzmann), University of Ulm, and the Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg-Hessen (E.-M.R., H.S., K.S.), Ulm; the Center of Chronic Immunodeficiency, University Medical Center Freiburg (S.F., P.H., A.R.-E., K. Hese, M.R., A.J., M.S., S.E.), the Faculty of Biology, University of Freiburg (S.F.), the Center for Pediatrics and Adolescent Medicine (P.H., S.E.), and the Department of Rheumatology and Clinical Immunology (M.S.), University Hospital Freiburg, Freiburg; and the Translational Center for Regenerative Medicine, University of Leipzig, Leipzig (S.B.) - all in Germany; the Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm (S.B.); and the Department of Pediatrics, University of Saskatchewan, Saskatoon (A.R.), and the Departments of Biochemistry and Medical Genetics (T.Z.) and Pediatrics and Child Health (T.Z., M.L.S.), University of Manitoba, Winnipeg - both in Canada.AbstractBACKGROUND: Severe combined immunodeficiency (SCID) comprises a heterogeneous group of heritable deficiencies of humoral and cell-mediated immunity. Many patients with SCID have lymphocyte-activation defects that remain uncharacterized.
- The New England journal of medicine.N Engl J Med.2013 Dec 26;369(26):2504-14. doi: 10.1056/NEJMoa1309199.
- BACKGROUND: Severe combined immunodeficiency (SCID) comprises a heterogeneous group of heritable deficiencies of humoral and cell-mediated immunity. Many patients with SCID have lymphocyte-activation defects that remain uncharacterized.METHODS: We performed genetic studies in four patients, from fou
- PMID 24369075
- Inborn defects in the antioxidant systems of human red blood cells.
- van Zwieten R1, Verhoeven AJ2, Roos D3.Author information 1Laboratory of Red Blood Cell Diagnostics, Department of Blood Cell Research, Sanquin Blood Supply Organization, 1066 CX Amsterdam, The Netherlands. Electronic address: r.vanzwieten@sanquin.nl.2Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.3Laboratory of Red Blood Cell Diagnostics, Department of Blood Cell Research, Sanquin Blood Supply Organization, 1066 CX Amsterdam, The Netherlands.AbstractRed blood cells (RBCs) contain large amounts of iron and operate in highly oxygenated tissues. As a result, these cells encounter a continuous oxidative stress. Protective mechanisms against oxidation include prevention of formation of reactive oxygen species (ROS), scavenging of various forms of ROS, and repair of oxidized cellular contents. In general, a partial defect in any of these systems can harm RBCs and promote senescence, but is without chronic hemolytic complaints. In this review we summarize the often rare inborn defects that interfere with the various protective mechanisms present in RBCs. NADPH is the main source of reduction equivalents in RBCs, used by most of the protective systems. When NADPH becomes limiting, red cells are prone to being damaged. In many of the severe RBC enzyme deficiencies, a lack of protective enzyme activity is frustrating erythropoiesis or is not restricted to RBCs. Common hereditary RBC disorders, such as thalassemia, sickle-cell trait, and unstable hemoglobins, give rise to increased oxidative stress caused by free heme and iron generated from hemoglobin. The beneficial effect of thalassemia minor, sickle-cell trait, and glucose-6-phosphate dehydrogenase deficiency on survival of malaria infection may well be due to the shared feature of enhanced oxidative stress. This may inhibit parasite growth, enhance uptake of infected RBCs by spleen macrophages, and/or cause less cytoadherence of the infected cells to capillary endothelium.
- Free radical biology & medicine.Free Radic Biol Med.2013 Dec 6;67C:377-386. doi: 10.1016/j.freeradbiomed.2013.11.022. [Epub ahead of print]
- Red blood cells (RBCs) contain large amounts of iron and operate in highly oxygenated tissues. As a result, these cells encounter a continuous oxidative stress. Protective mechanisms against oxidation include prevention of formation of reactive oxygen species (ROS), scavenging of various forms of RO
- PMID 24316370
- Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression.
- van Oirschot BA, Francois JJ, van Solinge WW, van Wesel AC, Rijksen G, van Amstel HK, van Wijk R.Author information Department of Clinical Chemistry and Hematology, University Medical Center Utrecht, Utrecht, TheNetherlands.AbstractRed blood cell pyruvate kinase (PK-R) is a key regulatory enzyme of red cell metabolism. Hereditary deficiency of PK-R is caused by mutations in the PKLR gene, leading to chronic nonspherocytic hemolytic anemia. In contrast to PK deficiency, inherited PK hyperactivity has also been described. This very rare abnormality of RBC metabolism has been documented in only two families and appears to be without clinical consequences. Thus far, it has been attributed to either a gain of function mutation in PKLR or to persistent expression of the fetal PK isozyme PK-M2 in mature red blood cells. We here report on a novel type of inherited PK hyperactivity that is characterized by solely increased expression of a kinetically normal PK-R. In line with the latter, no mutations were detected in PKLR. Mutations in regulatory regions as well as variations in PKLR copy number were also absent. In addition, linkage analysis suggested that PK hyperactivity segregated independently from the PKLR locus. We therefore postulate that the causative mutation resides in a novel yet-unidentified locus, and upregulates PKLR gene expression. Other mutations of the same locus may be involved in those cases of PK deficiency that fail to reveal mutations in PKLR.
- American journal of hematology.Am J Hematol.2013 Dec 4. doi: 10.1002/ajh.23647. [Epub ahead of print]
- Red blood cell pyruvate kinase (PK-R) is a key regulatory enzyme of red cell metabolism. Hereditary deficiency of PK-R is caused by mutations in the PKLR gene, leading to chronic nonspherocytic hemolytic anemia. In contrast to PK deficiency, inherited PK hyperactivity has also been described. This v
- PMID 24375447
Japanese Journal
- 筋萎縮性側索硬化症における微量元素強化流動食(E‐6)使用時の体内微量元素量と細胞性免疫の変化に関する検討
- 赤血球MAPに含まれるアデニンによる副作用発現の可能性の検討
- 下垂体性小人症の成長ホルモン治療における血清インタクトオステオカルシン測定の意義
Related Links
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- The red blood cell depends solely on the anaerobic conversion of glucose by the Embden-Meyerhof pathway for the generation and storage of high-energy phosphates, which is necessary for the maintenance of a number of vital ...
★リンクテーブル★
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- 英
- red blood cell enzyme deficiency, erythrocyte enzyme deficiency
- 関
- 赤血球、赤血球酵素
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- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
[★]
- 関
- erythro
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- 関
- blood corpuscle
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酵素欠乏症、酵素欠損症
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細胞