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1.
多指(趾)-肥胖-肾-眼综合征2例并文献复习分析 总被引：1，自引：0，他引：1
目的总结Laurance-Moon-Bardet-Biedl综合征(LMBBS)(多指-肥胖-肾-眼综合征)的发病情况及临床表现,并与国外文献报道进行比较。以提高临床医生对该综合征的认识。方法对1987—2003年对汕头大学医学院附属第二医院的2例LMBBS报告,以及国外462例、国内94例文献,进行分析。结果LMBBS有较高的血缘率及阳性家族史,视网膜色素变性、智力低下、肥胖、性发育不良和多指(趾)畸形五大主症,临床表现复杂多变。结论应避免近亲结婚。国外新近提出的诊断标准及调查方法,有利于患者儿童期的早期诊断。 相似文献
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目的 总结Laurance—Moon—Bardet—Biedl综合征（LMBBS）（多指-肥胖-肾-眼综合征）的发病情况及临床表现，并与国外文献报道进行比较。以提高临床医生对该综合征的认识。方法 对1987—2003年对汕头大学医学院附属第二医院的2例LMBBS报告，以及国外462例、国内94例文献，进行分析。结果 LMBBS有较高的血缘率及阳性家族史，视网膜色素变性、智力低下、肥胖、性发育不良和多指（趾）畸形五大主症，临床表现复杂多变。结论 应避免近亲结婚。国外新近提出的诊断标准及调查方法，有利于患者儿童期的早期诊断。 相似文献
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Lapatto R Pallais JC Zhang D Chan YM Mahan A Cerrato F Le WW Hoffman GE Seminara SB 《Endocrinology》2007,148(10):4927-4936
The G protein-coupled receptor Gpr54 and its ligand metastin (derived from the Kiss1 gene product kisspeptin) are key gatekeepers of sexual maturation. Gpr54 knockout mice demonstrate hypogonadotropic hypogonadism, but until recently, the phenotype of Kiss1 knockout mice was unknown. This report describes the reproductive phenotypes of mice carrying targeted deletions of Kiss1 or Gpr54 on the same genetic background. Both Kiss1 and Gpr54 knockout mice are viable but infertile and have abnormal sexual maturation; the majority of males lack preputial separation, and females have delayed vaginal opening and absence of estrous cycling. Kiss1 and Gpr54 knockout males have significantly smaller testes compared with controls. Gpr54 knockout females have smaller ovaries and uteri than wild-type females. However, Kiss1 knockout females demonstrate two distinct phenotypes: half have markedly reduced gonadal weights similar to those of Gpr54 knockout mice, whereas half exhibit persistent vaginal cornification and have gonadal weights comparable with those of wild-type females. FSH levels in both Kiss1 and Gpr54 knockout males and females are significantly lower than in controls. When injected with mouse metastin 43-52, a Gpr54 agonist, Gpr54 knockout mice fail to increase gonadotropins, whereas Kiss1 knockout mice respond with increased gonadotropin levels. In summary, both Kiss1 and Gpr54 knockout mice have abnormal sexual maturation consistent with hypogonadotropic hypogonadism, although Kiss1 knockout mice appear to be less severely affected than their receptor counterparts. Kiss1 knockout females demonstrate a bimodal phenotypic variability, with some animals having higher gonadal weight, larger vaginal opening, and persistent vaginal cornification. 相似文献
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《Vox sanguinis》1958,3(1):79-80
Book reviewed in this article:
Boorman, K. E. and Dodd, D. E: An Introduction to Blood Group Serology. J. & A.
Wuhrmann, F. and Wunderly, Ch.: Die Bluteiweißkörper des Menschen. 3. Auff. Benno Schwabe 相似文献
Boorman, K. E. and Dodd, D. E: An Introduction to Blood Group Serology. J. & A.
Wuhrmann, F. and Wunderly, Ch.: Die Bluteiweißkörper des Menschen. 3. Auff. Benno Schwabe 相似文献
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《Vox sanguinis》1962,7(2):253-254
Book reviewed in this article
Fischer, K.: Morbus haemoIyticus neonatorum im ABO-System.
Facteurs sanguins et vasculaires dam la thrombose . 3e Symposium Foundation Valentino Baldacci (19–24 avril 1960). 相似文献
Fischer, K.: Morbus haemoIyticus neonatorum im ABO-System.
Facteurs sanguins et vasculaires dam la thrombose . 3
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《Vox sanguinis》1958,3(6):456-458
Book reviewed in this article:
H. Serologie und klinische Bedeutung der Autohämantikörper . S. Karger
R. R. Race and Ruth Sanger : Blood Groups in Man
Moor-Jankowski, J. K., Huser, H. J., Rosin, S., Truog, G., Schneeberger, Maria und Geiger, M. : Hämophilie B . 相似文献
H. Serologie und klinische Bedeutung der Autohämantikörper . S. Karger
R. R. Race and Ruth Sanger : Blood Groups in Man
Moor-Jankowski, J. K., Huser, H. J., Rosin, S., Truog, G., Schneeberger, Maria und Geiger, M. : Hämophilie B . 相似文献
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《Vox sanguinis》1958,3(4):316-320
Book reviewed in this article:
Moderne Probleme der Pädiatrie / Problèmes actuels de Pédiatrie / Modern Problems in Pediatries. Vol. III. S. Karger, Basel/New York 1957. XVI+592 p., 126 fig., sFr. 96.- (Bibliotheca Paediatrica Fasc. 66).
Tovey, G. H.: Technique of Fluid Balance. Oliver & Boyd, Edinburgh/London, 1957. VIII+100 pp. 12 s. 6 d.
Walsh, R. J. and Ward, H. K.: A Guide to Blood Transfusion. Australian Red Cross Society (N.S.W. Division) Blood Transfusion Service, Sydney. Printed by Australasian Medical Publishing Company Limited, Glebe 1957. 164 pp., 20/-.
Progress in Allergy. Vol. 5 (1958), edited by P. Kallós. S. Karger, Basel (Schweiz)/ New York., XL+508 p. 103 fig., 6 Tab. SFr. 82.-. 相似文献
Moderne Probleme der Pädiatrie / Problèmes actuels de Pédiatrie / Modern Problems in Pediatries. Vol. III. S. Karger, Basel/New York 1957. XVI+592 p., 126 fig., sFr. 96.- (Bibliotheca Paediatrica Fasc. 66).
Tovey, G. H.: Technique of Fluid Balance. Oliver & Boyd, Edinburgh/London, 1957. VIII+100 pp. 12 s. 6 d.
Walsh, R. J. and Ward, H. K.: A Guide to Blood Transfusion. Australian Red Cross Society (N.S.W. Division) Blood Transfusion Service, Sydney. Printed by Australasian Medical Publishing Company Limited, Glebe 1957. 164 pp., 20/-.
Progress in Allergy. Vol. 5 (1958), edited by P. Kallós. S. Karger, Basel (Schweiz)/ New York., XL+508 p. 103 fig., 6 Tab. SFr. 82.-. 相似文献
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《Vox sanguinis》1957,2(1):77-79
Book reviewed in this article:
Dausset, Jean: Immono-Hématologie biologique et clinique.
Kabat, Elvin A.: Blood Group Substances. Their Chemirtry and Immunochemistry.
Egebnisse der Bluttrnnsfusiousforschung II 相似文献
Dausset, Jean: Immono-Hématologie biologique et clinique.
Kabat, Elvin A.: Blood Group Substances. Their Chemirtry and Immunochemistry.
Egebnisse der Bluttrnnsfusiousforschung II 相似文献
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《Vox sanguinis》1963,8(6):747-748
Book reviewed in this article:
Erdmann, G.: Allergieprobleme im Kindesalter. Allergie- und Asthmaforschung, Bd. 3.
Wolfgang Müller: Pathologie und Klinlk in Einzeldarstellungen – Band XII
K. Tabikawa: Proceedings of the 2nd Congress of the Asian and Pacific Society of Hematology.
Mario Stefanini and William Dameshek: Hemorrhagic Disorders. 相似文献
Erdmann, G.: Allergieprobleme im Kindesalter. Allergie- und Asthmaforschung, Bd. 3.
Wolfgang Müller: Pathologie und Klinlk in Einzeldarstellungen – Band XII
K. Tabikawa: Proceedings of the 2nd Congress of the Asian and Pacific Society of Hematology.
Mario Stefanini and William Dameshek: Hemorrhagic Disorders. 相似文献
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《Vox sanguinis》1961,6(5):638-639
Book reviewed in this article
Tovey, Geoffrey H .: Technique of Fluid Balance.
Knisely, M . if.: The Settling of Sludge During Life.
Karlson, P .: Kurzes Lehrbuch der Biochemie für Mediziner und Naturwissenschaftler . Georg Thieme Verlag, Stuttgart, 1961
Miescher, P . et Vorlaender, K. O .: Immunopathologie clinique et expérimentale .
Walsh, R. J and Ward, H. K .: A Guide to Blood Transfusion . 相似文献
Tovey, Geoffrey H .: Technique of Fluid Balance.
Knisely, M . if.: The Settling of Sludge During Life.
Karlson, P .: Kurzes Lehrbuch der Biochemie für Mediziner und Naturwissenschaftler . Georg Thieme Verlag, Stuttgart, 1961
Miescher, P . et Vorlaender, K. O .: Immunopathologie clinique et expérimentale .
Walsh, R. J and Ward, H. K .: A Guide to Blood Transfusion . 相似文献
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《Vox sanguinis》1962,7(3):383-384
Book reviewed in this article
Ergebnisee der Bluttransfueionsforschung VI.
Proceedings of the Eighth Congress of the International Society of Blood Transfusion, Tokyo 1960. Ed. by L. Holländer, Basel. 相似文献
Ergebnisee der Bluttransfueionsforschung VI.
Proceedings of the Eighth Congress of the International Society of Blood Transfusion, Tokyo 1960. Ed. by L. Holländer, Basel. 相似文献
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《Vox sanguinis》1959,4(5):414-416
Book reviewed in this article:
Proceedings of the Seventh Congress of the International Society of Blood Transfusion . Rome, September 3 to 6, 1958. Edited by L. Holländer, Basle. S. Karger
Cajano, A,; Bile, G.; Santoro, E.; Nicolette, M. e Durant, M.: L'immuno-morfologia nello esperimento e nella clinica . Edizioni di Haematologica
Haase, H. und Liebing, G.: Des Blutspendewesen . Georg Thieme 相似文献
Proceedings of the Seventh Congress of the International Society of Blood Transfusion . Rome, September 3 to 6, 1958. Edited by L. Holländer, Basle. S. Karger
Cajano, A,; Bile, G.; Santoro, E.; Nicolette, M. e Durant, M.: L'immuno-morfologia nello esperimento e nella clinica . Edizioni di Haematologica
Haase, H. und Liebing, G.: Des Blutspendewesen . Georg Thieme 相似文献
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目的探讨40岁以上HBeAg阳性和HBeAg阴性慢性HBV感染者的临床特点。方法收集40岁以上慢性HBV感染者共186例,其中HBeAg阳性组93例,HBeAg阴性组93例。结果 40岁以上HBeAg阳性慢性HBV感染者男性为多(76.34%),并且多有乙型肝炎家族聚集现象(78.49%);40岁以上HBeAg阳性慢性HBV感染者的HBV DNA水平与ALT水平均高于HBeAg阴性慢性HBV感染者;40岁以上乙型肝炎肝硬化患者中,HBeAg阳性者占少数;40岁以上乙型肝炎肝硬化失代偿期患者中,HBeAg阳性者多合并腹水形成,而HBeAg阴性者既可见腹水形成,又可见上消化道出血。结论 40岁以上HBeAg阳性慢性HBV感染者多见于男性,多具有家族聚集现象,HBeAg阳性肝硬化患者所占比率较低,但HBV DNA水平较高,肝脏的炎症活动明显,病情进展可能较快。 相似文献