Familial Dilated Cardiomyopathy: Cardiac Abnormalities Are Common in Asymptomatic Relatives and May Represent Early Disease
Objectives. This study sought to determine whether early disease is identifiable in asymptomatic relatives of patients with dilated cardiomyopathy (DCM) by means of noninvasive cardiologic assessment. Background. DCM is diagnosed on the basis of advanced heart failure, where cardiac dilation and imp...
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| Veröffentlicht in: | Journal of the American College of Cardiology 1998-01, Vol.31 (1), p.195-201 |
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| creator | Baig, M.Kamran Goldman, Jonathan H Caforio, Alida L.P Coonar, Aman S Keeling, Philip J McKenna, William J |
| description | Objectives. This study sought to determine whether early disease is identifiable in asymptomatic relatives of patients with dilated cardiomyopathy (DCM) by means of noninvasive cardiologic assessment.
Background. DCM is diagnosed on the basis of advanced heart failure, where cardiac dilation and impaired contractility are recognized in the absence of a recognized etiology (World Health Organization criteria). However, initial clinical presentation may be with severe complications: thromboembolism, arrhythmia or sudden death. DCM has recently been recognized to be familial, with autosomal dominant inheritance in many cases. Familial disease is present in 9% to 20% of patients with DCM, and the ability to identify early disease in such people may improve patient management and aid in the understanding of pathogenesis.
Method. We prospectively assessed 408 asymptomatic relatives (mean [±SD] age 35 ± 15 years, 193 men) of 110 consecutive patients with DCM by means of history and physical examination, two-dimensional echocardiography, 12-lead and signal-averaged electrocardiography and metabolic exercise testing. We hypothesized that signs of lesser cardiac dysfunction in such relatives might indicate early disease.
Results. Twenty-nine percent of relatives had abnormal results on the echocardiogram. Twenty percent (n = 45) had left ventricular enlargement (LVE), defined as LV end-diastolic diameter (LVEDD) ≥112% predicted; 6% (n = 13) had depressed fractional shortening (dFS), defined as FS ≤25%; and 3% (n = 7) had frank DCM, defined as LV dilation, impaired contractile performance and LVEDD ≥112% plus FS ≤25%. Other abnormalities of cardiac function were identified in relatives with LVE or dFS: A greater number with LVE had an abnormal metabolic exercise test result than normal relatives (9% vs. 1%, p < 0.05). Relatives with LVE and abnormal maximal oxygen consumption (Vo2max) (defined as Vo2max |
| doi_str_mv | 10.1016/S0735-1097(97)00433-6 |
| format | Article |
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Background. DCM is diagnosed on the basis of advanced heart failure, where cardiac dilation and impaired contractility are recognized in the absence of a recognized etiology (World Health Organization criteria). However, initial clinical presentation may be with severe complications: thromboembolism, arrhythmia or sudden death. DCM has recently been recognized to be familial, with autosomal dominant inheritance in many cases. Familial disease is present in 9% to 20% of patients with DCM, and the ability to identify early disease in such people may improve patient management and aid in the understanding of pathogenesis.
Method. We prospectively assessed 408 asymptomatic relatives (mean [±SD] age 35 ± 15 years, 193 men) of 110 consecutive patients with DCM by means of history and physical examination, two-dimensional echocardiography, 12-lead and signal-averaged electrocardiography and metabolic exercise testing. We hypothesized that signs of lesser cardiac dysfunction in such relatives might indicate early disease.
Results. Twenty-nine percent of relatives had abnormal results on the echocardiogram. Twenty percent (n = 45) had left ventricular enlargement (LVE), defined as LV end-diastolic diameter (LVEDD) ≥112% predicted; 6% (n = 13) had depressed fractional shortening (dFS), defined as FS ≤25%; and 3% (n = 7) had frank DCM, defined as LV dilation, impaired contractile performance and LVEDD ≥112% plus FS ≤25%. Other abnormalities of cardiac function were identified in relatives with LVE or dFS: A greater number with LVE had an abnormal metabolic exercise test result than normal relatives (9% vs. 1%, p < 0.05). Relatives with LVE and abnormal maximal oxygen consumption (Vo2max) (defined as Vo2max <80% predicted) had a lower absolute Vo2max than normal relatives (30 ± 8 vs. 43 ± 9 ml/min per kg, p = 0.01). The QRS duration (at the 25-Hz filter) on the signal- averaged electrocardiogram was prolonged in relatives with LVE (103 ± 13 ms) and dFS (102 ± 12 ms) compared with that of normal relatives (97 ± 12 ms, p < 0.05). Over a mean 39-month follow-up period, 12 relatives with LVE (27%) and none with dFS developed symptomatic DCM (p < 0.0001). One relative with LVE died suddenly, and another underwent heart transplantation.
Conclusions. Nearly one-third of asymptomatic relatives (29%) have echocardiographic abnormalities, and 27% of such relatives progress to development of overt DCM. Early identification of such people would permit appropriate intervention that might influence the serious complications and mortality of this disease.</description><identifier>ISSN: 0735-1097</identifier><identifier>EISSN: 1558-3597</identifier><identifier>DOI: 10.1016/S0735-1097(97)00433-6</identifier><identifier>PMID: 9426040</identifier><identifier>CODEN: JACCDI</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Adult ; Biological and medical sciences ; Cardiology. Vascular system ; Cardiomyopathy, Dilated - diagnostic imaging ; Cardiomyopathy, Dilated - genetics ; Cardiomyopathy, Dilated - physiopathology ; Disease Progression ; Female ; Heart ; Hemodynamics ; Humans ; Male ; Medical sciences ; Middle Aged ; Myocarditis. Cardiomyopathies ; Oxygen Consumption ; Prospective Studies ; Ultrasonography ; Ventricular Function, Left</subject><ispartof>Journal of the American College of Cardiology, 1998-01, Vol.31 (1), p.195-201</ispartof><rights>1998 The American College of Cardiology</rights><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c421t-999d4fa92097575ceaa6ce8375e411136095cd65b0e72a8af30a88f60e7630123</citedby><cites>FETCH-LOGICAL-c421t-999d4fa92097575ceaa6ce8375e411136095cd65b0e72a8af30a88f60e7630123</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0735109797004336$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,3537,4010,27900,27901,27902,65534</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2101898$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9426040$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Baig, M.Kamran</creatorcontrib><creatorcontrib>Goldman, Jonathan H</creatorcontrib><creatorcontrib>Caforio, Alida L.P</creatorcontrib><creatorcontrib>Coonar, Aman S</creatorcontrib><creatorcontrib>Keeling, Philip J</creatorcontrib><creatorcontrib>McKenna, William J</creatorcontrib><title>Familial Dilated Cardiomyopathy: Cardiac Abnormalities Are Common in Asymptomatic Relatives and May Represent Early Disease</title><title>Journal of the American College of Cardiology</title><addtitle>J Am Coll Cardiol</addtitle><description>Objectives. This study sought to determine whether early disease is identifiable in asymptomatic relatives of patients with dilated cardiomyopathy (DCM) by means of noninvasive cardiologic assessment.
Background. DCM is diagnosed on the basis of advanced heart failure, where cardiac dilation and impaired contractility are recognized in the absence of a recognized etiology (World Health Organization criteria). However, initial clinical presentation may be with severe complications: thromboembolism, arrhythmia or sudden death. DCM has recently been recognized to be familial, with autosomal dominant inheritance in many cases. Familial disease is present in 9% to 20% of patients with DCM, and the ability to identify early disease in such people may improve patient management and aid in the understanding of pathogenesis.
Method. We prospectively assessed 408 asymptomatic relatives (mean [±SD] age 35 ± 15 years, 193 men) of 110 consecutive patients with DCM by means of history and physical examination, two-dimensional echocardiography, 12-lead and signal-averaged electrocardiography and metabolic exercise testing. We hypothesized that signs of lesser cardiac dysfunction in such relatives might indicate early disease.
Results. Twenty-nine percent of relatives had abnormal results on the echocardiogram. Twenty percent (n = 45) had left ventricular enlargement (LVE), defined as LV end-diastolic diameter (LVEDD) ≥112% predicted; 6% (n = 13) had depressed fractional shortening (dFS), defined as FS ≤25%; and 3% (n = 7) had frank DCM, defined as LV dilation, impaired contractile performance and LVEDD ≥112% plus FS ≤25%. Other abnormalities of cardiac function were identified in relatives with LVE or dFS: A greater number with LVE had an abnormal metabolic exercise test result than normal relatives (9% vs. 1%, p < 0.05). Relatives with LVE and abnormal maximal oxygen consumption (Vo2max) (defined as Vo2max <80% predicted) had a lower absolute Vo2max than normal relatives (30 ± 8 vs. 43 ± 9 ml/min per kg, p = 0.01). The QRS duration (at the 25-Hz filter) on the signal- averaged electrocardiogram was prolonged in relatives with LVE (103 ± 13 ms) and dFS (102 ± 12 ms) compared with that of normal relatives (97 ± 12 ms, p < 0.05). Over a mean 39-month follow-up period, 12 relatives with LVE (27%) and none with dFS developed symptomatic DCM (p < 0.0001). One relative with LVE died suddenly, and another underwent heart transplantation.
Conclusions. Nearly one-third of asymptomatic relatives (29%) have echocardiographic abnormalities, and 27% of such relatives progress to development of overt DCM. Early identification of such people would permit appropriate intervention that might influence the serious complications and mortality of this disease.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Cardiology. Vascular system</subject><subject>Cardiomyopathy, Dilated - diagnostic imaging</subject><subject>Cardiomyopathy, Dilated - genetics</subject><subject>Cardiomyopathy, Dilated - physiopathology</subject><subject>Disease Progression</subject><subject>Female</subject><subject>Heart</subject><subject>Hemodynamics</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Myocarditis. Cardiomyopathies</subject><subject>Oxygen Consumption</subject><subject>Prospective Studies</subject><subject>Ultrasonography</subject><subject>Ventricular Function, Left</subject><issn>0735-1097</issn><issn>1558-3597</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkFFrFDEQgINY6ln9CYU8iOjDarLZZBNfynG2WqgIrT6HuewsRjabNdkrLP55c73jXoVAmJlvZpKPkEvOPnDG1ccH1gpZcWbad6Z9z1gjRKWekRWXUldCmvY5WZ2QF-Rlzr8ZY0pzc07OTVMr1rAV-XsDwQ8eBvrZDzBjRzeQOh_DEieYfy2fDjE4ut6OMQUY_Owx03VCuokhxJH6ka7zEqY5Bpi9o_dYBvnHAsHY0W-wlMyUMOM402tIw1JWZYSMr8hZD0PG18f7gvy8uf6x-Vrdff9yu1nfVa6p-VwZY7qmB1OXf8hWOgRQDrVoJTacc6GYka5TcsuwrUFDLxho3asSKsF4LS7I28PcKcU_O8yzDT47HAYYMe6ybY0SXOs9KA-gSzHnhL2dkg-QFsuZ3Uu3T9Lt3qgt50m6VaXv8rhgtw3YnbqOlkv9zbEO2cHQJxidzyesLqO10QW7OmBYZDx6TDY7j6PDzid0s-2i_89D_gGBj55x</recordid><startdate>199801</startdate><enddate>199801</enddate><creator>Baig, M.Kamran</creator><creator>Goldman, Jonathan H</creator><creator>Caforio, Alida L.P</creator><creator>Coonar, Aman S</creator><creator>Keeling, Philip J</creator><creator>McKenna, William J</creator><general>Elsevier Inc</general><general>Elsevier Science</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>199801</creationdate><title>Familial Dilated Cardiomyopathy: Cardiac Abnormalities Are Common in Asymptomatic Relatives and May Represent Early Disease</title><author>Baig, M.Kamran ; Goldman, Jonathan H ; Caforio, Alida L.P ; Coonar, Aman S ; Keeling, Philip J ; McKenna, William J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c421t-999d4fa92097575ceaa6ce8375e411136095cd65b0e72a8af30a88f60e7630123</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Cardiology. Vascular system</topic><topic>Cardiomyopathy, Dilated - diagnostic imaging</topic><topic>Cardiomyopathy, Dilated - genetics</topic><topic>Cardiomyopathy, Dilated - physiopathology</topic><topic>Disease Progression</topic><topic>Female</topic><topic>Heart</topic><topic>Hemodynamics</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Myocarditis. Cardiomyopathies</topic><topic>Oxygen Consumption</topic><topic>Prospective Studies</topic><topic>Ultrasonography</topic><topic>Ventricular Function, Left</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Baig, M.Kamran</creatorcontrib><creatorcontrib>Goldman, Jonathan H</creatorcontrib><creatorcontrib>Caforio, Alida L.P</creatorcontrib><creatorcontrib>Coonar, Aman S</creatorcontrib><creatorcontrib>Keeling, Philip J</creatorcontrib><creatorcontrib>McKenna, William J</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the American College of Cardiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Baig, M.Kamran</au><au>Goldman, Jonathan H</au><au>Caforio, Alida L.P</au><au>Coonar, Aman S</au><au>Keeling, Philip J</au><au>McKenna, William J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Familial Dilated Cardiomyopathy: Cardiac Abnormalities Are Common in Asymptomatic Relatives and May Represent Early Disease</atitle><jtitle>Journal of the American College of Cardiology</jtitle><addtitle>J Am Coll Cardiol</addtitle><date>1998-01</date><risdate>1998</risdate><volume>31</volume><issue>1</issue><spage>195</spage><epage>201</epage><pages>195-201</pages><issn>0735-1097</issn><eissn>1558-3597</eissn><coden>JACCDI</coden><abstract>Objectives. This study sought to determine whether early disease is identifiable in asymptomatic relatives of patients with dilated cardiomyopathy (DCM) by means of noninvasive cardiologic assessment.
Background. DCM is diagnosed on the basis of advanced heart failure, where cardiac dilation and impaired contractility are recognized in the absence of a recognized etiology (World Health Organization criteria). However, initial clinical presentation may be with severe complications: thromboembolism, arrhythmia or sudden death. DCM has recently been recognized to be familial, with autosomal dominant inheritance in many cases. Familial disease is present in 9% to 20% of patients with DCM, and the ability to identify early disease in such people may improve patient management and aid in the understanding of pathogenesis.
Method. We prospectively assessed 408 asymptomatic relatives (mean [±SD] age 35 ± 15 years, 193 men) of 110 consecutive patients with DCM by means of history and physical examination, two-dimensional echocardiography, 12-lead and signal-averaged electrocardiography and metabolic exercise testing. We hypothesized that signs of lesser cardiac dysfunction in such relatives might indicate early disease.
Results. Twenty-nine percent of relatives had abnormal results on the echocardiogram. Twenty percent (n = 45) had left ventricular enlargement (LVE), defined as LV end-diastolic diameter (LVEDD) ≥112% predicted; 6% (n = 13) had depressed fractional shortening (dFS), defined as FS ≤25%; and 3% (n = 7) had frank DCM, defined as LV dilation, impaired contractile performance and LVEDD ≥112% plus FS ≤25%. Other abnormalities of cardiac function were identified in relatives with LVE or dFS: A greater number with LVE had an abnormal metabolic exercise test result than normal relatives (9% vs. 1%, p < 0.05). Relatives with LVE and abnormal maximal oxygen consumption (Vo2max) (defined as Vo2max <80% predicted) had a lower absolute Vo2max than normal relatives (30 ± 8 vs. 43 ± 9 ml/min per kg, p = 0.01). The QRS duration (at the 25-Hz filter) on the signal- averaged electrocardiogram was prolonged in relatives with LVE (103 ± 13 ms) and dFS (102 ± 12 ms) compared with that of normal relatives (97 ± 12 ms, p < 0.05). Over a mean 39-month follow-up period, 12 relatives with LVE (27%) and none with dFS developed symptomatic DCM (p < 0.0001). One relative with LVE died suddenly, and another underwent heart transplantation.
Conclusions. Nearly one-third of asymptomatic relatives (29%) have echocardiographic abnormalities, and 27% of such relatives progress to development of overt DCM. Early identification of such people would permit appropriate intervention that might influence the serious complications and mortality of this disease.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>9426040</pmid><doi>10.1016/S0735-1097(97)00433-6</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Biological and medical sciences Cardiology. Vascular system Cardiomyopathy, Dilated - diagnostic imaging Cardiomyopathy, Dilated - genetics Cardiomyopathy, Dilated - physiopathology Disease Progression Female Heart Hemodynamics Humans Male Medical sciences Middle Aged Myocarditis. Cardiomyopathies Oxygen Consumption Prospective Studies Ultrasonography Ventricular Function, Left |
| title | Familial Dilated Cardiomyopathy: Cardiac Abnormalities Are Common in Asymptomatic Relatives and May Represent Early Disease |
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