The Keio Journal of Medicine
Online ISSN : 1880-1293
Print ISSN : 0022-9717
ISSN-L : 0022-9717
Volume 51, Issue 2
Displaying 1-5 of 5 articles from this issue
  • Tony Hunter
    2002 Volume 51 Issue 2 Pages 61-71
    Published: 2002
    Released on J-STAGE: March 27, 2009
    JOURNAL FREE ACCESS
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  • Masatoshi Takeichi
    2002 Volume 51 Issue 2 Pages 72-76
    Published: 2002
    Released on J-STAGE: March 27, 2009
    JOURNAL FREE ACCESS
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  • Hiroyuki Yamagishi
    2002 Volume 51 Issue 2 Pages 77-88
    Published: 2002
    Released on J-STAGE: March 27, 2009
    JOURNAL FREE ACCESS
    The 22g11.2 deletion syndrome (22q11DS) encompasses DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome and is due to a microdeletion of chromosome 22q11.2. This is the most frequent known interstitial deletion found in human with an incidence of 1 in 4, 000 live births. A large number of clinical findings have been reported in affected patients, including cardiac defects, characteristic facial features, thymic hypoplasia, cleft palate, hypoparathyroidism, learning difficulties and psychiatric disorders. A comprehensive evaluation and follow-up program is necessary for patients with 22g11DS. A striking aspect of the 22g11DS phenotype is its variability, the basis of which remains unclear, and no phenotype-genotype correlation has been made. The structures primarily affected in patients with 22g11DS are derivatives of the embryonic pharyngeal arches and pouches suggesting that haploinsufficiency of the gene(s) on the deleted region, spanning 2-3 Mb, is important in pharyngeal arch/pouch development. Extensive gene searches have been successful in identifying more than 30 genes in the deleted segment. Although standard positional cloning has failed to demonstrate a role for any of these genes in the syndrome, the use of experimental animal models and advanced genome manipulation technologies in mice have been providing an insight into the developmental role of some of these genes, including TBX1. In this review, the clinical features and management of patients with 22g11DS are integrated with our current understanding of the embryo-logical and molecular basis of this syndrome, as presented at the 1235th Meeting of The Keio Medical Society.
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  • Cláudio Moura Lacerda, Wilson Freire, Paulo Sérgio Vieir ...
    2002 Volume 51 Issue 2 Pages 89-92
    Published: 2002
    Released on J-STAGE: March 27, 2009
    JOURNAL FREE ACCESS
    The treatment of choice, in the Northeast of Brazil, of patients with a history of upper GI bleeding from ruptured esophageal varices (EV) and with hepatosplenomegaly secondary to schisto-somiasis (HSS), is splenectomy and left gastric vein ligation (SLGL). However, the effect of this pro-cedure on the EV pressure, the parameter that best correlates to re-bleeding risk, has not yet been evaluated. With the introduction of a minimally invasive technique to measure the EV pressure, it has become possible to assess the effect of this surgery without an increased risk to the patient. SLGL was performed in twenty two patients with a history of HSS and upper GI Bleeding secondary to esopha-geal varices. The non-invasive endoscopic pneumatic balloon was used to measure the EV pressure before surgery and the results were then compared with measurements made between five and eight days post-operatively. The pre-operative EV pressure ranged from 20.0mmHg to 28.7mmHg (mean 24.35+/-2.36mmHg), with no correlation between the pressure and the calibre of the varices. In the post-operative period, a significant decrease in EV pressure was observed, ranging from 14.6mmHg to 21.5mmHg (mean 17.29+/-1.75mmHg, p<0.001). These results support the use of SLGL in patients with HSS and a history of variceal bleeding. The operation results in, at least for the short term and in the majority of cases, a reduction in the EV pressure, and therefore a reduced risk of repeating upper GI Bleeding.
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  • Tetsuo Maruyama, Yurie Yamamoto, Nozomi Sakai, Aki Shimizu, Asuka Shim ...
    2002 Volume 51 Issue 2 Pages 93-99
    Published: 2002
    Released on J-STAGE: March 27, 2009
    JOURNAL FREE ACCESS
    Reversible protein tyrosine phosphorylation, coordinately controlled by protein tyrosine kinases (PTKs) and protein tyrosine phosphatases (PTPs), is a critical element in signal transduction pathways regulating cell growth, differentiation, apoptosis, and tumorigenesis. The differentiation of human endometrial stromal cells (decidualization) is crucial for successful embryo implantation and maintenance of pregnancy; however, little is known about the molecular events involving tyrosine phosphorylation, PTKs, and PTPs in the process of decidualization. We have previously reported that the tyrosine kinase activity of c-Src belonging to the Src family kinase is increased together with altered tyrosine phosphorylation of several cellular proteins in the in vitro model of decidualization. Focal adhesion kinase (FAK) and paxillin are known to form a complex with c-Src at the focal contacts and to participate in the integrin-mediated signal transduction as c-Src substrates. Those focal adhesion proteins, however, are not hyperphosphorylated on tyrosine during decidualization. Moreover, the loss of focal adhesions and the disorganization of the actin-based cytoskeleton were observed in decid-ualized stromal cells, suggesting that the escape from regulation by c-Src may be in part due to the decidualization-induced disruption of the interaction between the focal adhesion proteins and c-Src. These findings collectively indicate that decidual c-Src may activate signaling pathway(s) different from the integrin-mediated signaling cascade involving FAK and paxillin. This review summarizes our recent studies on the tyrosine phosphorylation signaling pathway(s) in decidualization.
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