Up-Regulation of the Brain and Purkinje-Cell Forms of Dystrophin Transcripts, in Becker Muscular Dystrophy

Farrando Sicilia, Jordi; Llauradó Grau, Josep M. ; Fuente Fuente, Carlos; Montes, Antoni

1006-44 A Prognostic Factor in Coronary Artery Disease (CAD): Platelet-Dependent Thrombin Generation in Patients with CAD

We examined platelet-dependent thrombin generation in patients with coronary artery disease (CAD). Thrombin generation was measured according to the method of Aronson et al (Circulation, 1992). 0.5ml of platelet rich plasma (PRP, 15×104/ml) was prepared, and 40mM of CaCl, was added to start clotting. 0.5mM of S-2238 was added to each sample in a microtiter plate every 10min, and the plate was read kinetically at a wavelength of 405nm on a microtiter plate reader. The patients with CAD devided into 3 groups.Thrombin generation 20 min after CaCI2, additon is:Control (n=12)48±10(mOD)Stable angina (SAP) (n=15)79±27Unstable angina (UAP) (n=15)**562±155Acute myocardial infarct (AMI) (n=43)**440±269**p<0.01 compared to SAPThe patients with UAP and AMI showed marked increase in thrombin generation compared to SAP and control subjects. AMI patients with severe coronary artery disease (Group B) showed higher levels of thrombin generation (Group A, Gensini score<32: 382±248 mOD vs Group B, Gensini score> 31: 578±238, P<0.05). LVEF of group A is significantly higher than that of group B (P < 0.05). These findings indicate that patients with UAP and AMI have an evidence of hypercoagulable states and that platelet-dependent thrombin generation may play an important role in pathophysiology of UAP or AMI, and may be a prognostic factor in CAD

Differential responses of normal human coronary artery endothelial cells against multiple cytokines comparatively assessed by gene expression profiles

AbstractEndothelial cells play an important role in terms of biological functions by responding to a variety of stimuli in the blood. However, little is known about the molecular mechanism involved in rendering the variety in the cellular response. To investigate the variety of the cellular responses against exogenous stimuli at the gene expression level, we attempted to describe the cellular responses with comprehensive gene expression profiles, dissect them into multiple response patterns, and characterize the response patterns according to the information accumulated so far on the genes included in the patterns. We comparatively analyzed in parallel the gene expression profiles obtained with DNA microarrays from normal human coronary artery endothelial cells (HCAECs) stimulated with multiple cytokines, interleukin-1β, tumor necrosis factor-α, interferon-β, interferon-γ, and oncostatin M, which are profoundly involved in various functional responses of endothelial cells. These analyses revealed that the cellular responses of HCAECs against these cytokines included at least 15 response patterns specific to a single cytokine or common to multiple cytokines. Moreover, we statistically extracted genes contained within the individual response patterns and characterized the response patterns with the genes referring to the previously accumulated findings including the biological process defined by the Gene Ontology Consortium (GO). Out of the 15 response patterns in which at least one gene was successfully extracted through the statistical approach, 11 response patterns were differentially characterized by representing the number of genes contained in individual criteria of the biological process in the GO only. The approach to dissect cellular responses into response patterns and to characterize the pattern at the gene expression level may contribute to the gaining of insight for untangling the diversity of cellular functions

Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs

金沢大学がん研究所がん分子細胞制御A Japanese family with atypical type I familial amyloidotic polyneuropathy (FAP) in Iiyama, Japan, was studied. Most of the family members have dysfunctions of the central nervous system, in addition to typical symptoms of type I FAP. The transthyretin (TTR, also called prealbumin) gene of the atypical FAP (FAP-IY) was analyzed with recombinant DNA techniques and a RIA method. FAP-IY was found to have the mutation responsible for the methionine-for-valine substitution at position 30 of TTR, as in the case of typical type I FAP. However, analysis of DNA polymorphisms in the TTR locus showed that FAP-IY has a genetic background differing from that of the typical type I FAP. These observations lead to the consideration that a genetic factor(s) involved in the dysfunction of the central nervous system may locate in a chromosome region in close proximity to the TTR gene

シンタイ ショウガイシャ フクシホウ ショウガイ ニンテイ センモンイ チョウサ ニ オケル ショウガイ ニンテイ ノ カダイ 1 シカク ショウガイ

身体障害者福祉法の障害の範囲は、成立当時の視覚障害、聴覚障害、肢体不自由等の障害から、現在は内部機能障害にまで障害の範囲が拡大されてきている。そのために、疾患との区別がわかりにくくなり障害の概念が複雑になった。そこで、著者らは、平成15年度から、身体障害者福祉法が本来目的としている更生援護を適切に達成し、かつ、真に必要な人に、必要なサービスを、適切な時期に提供するための障害認定のありかたについて検討してきた。本研究は、研究の基礎的資料を得るために平成17年2月から3月にかけて各都道府県の障害認定専門医に対して行った調査の結果の一部であり、視覚障害の認定に関する調査結果をまとめている。研究の結果、視覚障害の認定に関して、視力障害の測定を両眼視で行うこと、視野障害の測定方法を再検討すること、高次脳機能障害や言葉でのやりとりの出来ない幼児などの視覚機能の測定方法についての基礎的研究を行うこと、再認定の方法について基礎的研究を行うことなどの課題が明らかになった。The range of the disabilities of the Law for Persons with Physical Disabilities has been expanded to internal disabilities from formation. As the distinction between disability and disease has been confused, the definition of disability has been complicated. The authors have been discussing an adequate definition of disability to offer the sufficient service to those who really need when they need since 2003. An survey of medical evaluation experts of each prefecture was carried out to investigate the reality of disability determination in order to get a basic information. This article is one part of result of the survey and reports the problems of the disability determination of visual impairment. The measurement of visual acuity with both eyes, reexamining the measurement method of the visual field, the need of study about the measurement method of visual functions such as the infants who cannot speak and cognitive functional disorder, and the study about the method of reassessment of impairment are found as the problems