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  • 1
    ISSN: 1432-0428
    Keywords: Antigen presentation ; TAP peptide transporter gene ; HLA class II ; insulin-dependent diabetes mellitus ; linkage disequilibrium
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The TAP2 gene, located in the HLA class II region, encodes a subunit of a transporter involved in the endogenous antigen-processing pathway, and has been suggested to contribute to the genetic risk for insulin-dependent diabetes (IDDM). In order to determine whether the TAP2 locus modulates the risk conferred by HLA DQ loci, HLA DQA1-DQB1-TAP2 haplotypes were analysed in 48 IDDM probands, their first degree relatives, and in 62 normal control subjects. A decreased frequency of the TAP2B allele was confirmed in this IDDM cohort (12 vs 28% in control subjects, p c 〈0.05). Analysis of 73 informative meiotic events in IDDM and control families demonstrated a recombination fraction between HLA DQB1 and TAP2 loci of 0.041 (Log of the odds score=16.5; p〈10−8) indicating strong linkage between these loci. Family haplotype analysis demonstrated linkage disequilibrium between TAP2 and HLA DQA1-DQB1, and showed that the reduced frequency of TAP2B was associated with its absence on the IDDM susceptible DQA1*0301-DQB1*0302 haplotype, its low frequency on DQA1*0501-DQB1*0201, and the association of TAP2B with DQA1*0101-DQB1*0501 haplotypes which were less frequent in IDDM patients. Comparison of transmitted with non-transmitted haplotypes in IDDM families showed a slight but not significant decrease in TAP2B allele frequency on transmitted (3 of 37) vs non-transmitted (2 of 9) HLA DQA1*0501-DQB1*0201 haplotypes. No other differences were observed. Twenty-four unrelated DQA1*0501-DQB1*0201 haplotypes from non-diabetic families had a TAP2B allele frequency (4%) similar to that in IDDM haplotypes. These findings suggest that the decreased TAP2B allele frequency in Italian IDDM patients is due to HLA DQ haplotype differences between IDDM patients and control subjects, and do not support a contribution to IDDM risk by the TAP2 locus.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0428
    Keywords: Key words Antigen presentation ; TAP peptide transporter gene ; HLA class II ; insulin-dependent diabetes mellitus ; linkage disequilibrium.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The TAP2 gene, located in the HLA class II region, encodes a subunit of a transporter involved in the endogenous antigen-processing pathway, and has been suggested to contribute to the genetic risk for insulin-dependent diabetes (IDDM). In order to determine whether the TAP2 locus modulates the risk conferred by HLA DQ loci, HLA DQA1-DQB1-TAP2 haplotypes were analysed in 48 IDDM probands, their first degree relatives, and in 62 normal control subjects. A decreased frequency of the TAP2B allele was confirmed in this IDDM cohort (12 vs 28 % in control subjects, p c 〈 0.05). Analysis of 73 informative meiotic events in IDDM and control families demonstrated a recombination fraction between HLA DQB1 and TAP2 loci of 0.041 (Log of the odds score = 16.5; p 〈 10–8) indicating strong linkage between these loci. Family haplotype analysis demonstrated linkage disequilibrium between TAP2 and HLA DQA1-DQB1, and showed that the reduced frequency of TAP2B was associated with its absence on the IDDM susceptible DQA1*0301-DQB1*0302 haplotype, its low frequency on DQA1*0501-DQB1*0201, and the association of TAP2B with DQA1*0101-DQB1*0501 haplotypes which were less frequent in IDDM patients. Comparison of transmitted with non-transmitted haplotypes in IDDM families showed a slight but not significant decrease in TAP2B allele frequency on transmitted (3 of 37) vs non-transmitted (2 of 9) HLA DQA1*0501-DQB1*0201 haplotypes. No other differences were observed. Twenty-four unrelated DQA1*0501-DQB1*0201 haplotypes from non-diabetic families had a TAP2B allele frequency (4 %) similar to that in IDDM haplotypes. These findings suggest that the decreased TAP2B allele frequency in Italian IDDM patients is due to HLA DQ haplotype differences between IDDM patients and control subjects, and do not support a contribution to IDDM risk by the TAP2 locus. [Diabetologia (1995) 38: 968–974]
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0509
    Keywords: Key words: Aorta, aneurysm—Renal artery, stenosis—Prostheses—Images, virtual—Spiral CT.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Virtual endoscopy enables the creation of endoluminal views of the aorta and its branches by processing spiral computed tomographic (CT) images, thereby allowing the preoperative and postoperative evaluations of abdominal aortic aneurysms, aneurysms of the splenic, celiac, and common iliac arteries, and renal artery stenoses. Moreover, it is helpful for verifying the position of stents and endoprostheses from within the aortic lumen. This method is a promising addition to spiral CT.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Experimental brain research 129 (1999), S. 457-461 
    ISSN: 1432-1106
    Keywords: Key words Associated voluntary movements ; Motor cortex ; Man ; Near infrared spectroscopy ; Hemoglobin oxygenation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Near-infrared spectroscopy (NIRS) was used to assess human motor-cortex oxygenation changes in response to cyclic coupled movements of hand and foot. Using a highly sensitive NIRS instrument, we showed that it was possible to detect reproducible oxygenation patterns using single cycles (20 s) of easy and difficult association tasks. No significant differences in the time corresponding to the maximal changes in concentration of oxy- and deoxyhemoglobin ([O2Hb] and [HHb], respectively) were found during easy and difficult association as well as cycles. Only [O2Hb] showed a significantly higher value at the end of the difficult association during the first cycle. No significant differences were found for [O2Hb] and [HHb] in the other cycles. We conclude that NIRS is a useful addition to functional magnetic resonance imaging in investigating the time course of cortical activation.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Duchenne muscular dystrophy, Becker muscular dystrophy ; Carrier diagnosis ; Prenatal diagnosis ; X-linked muscular dystrophies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The indirect approach to carrier detection and prenatal diagnosis of Duchenne and Becker muscular dystrophies based on the study of DNA polymorphisms closely linked to this gene has been followed by five Italian laboratories in the study of 106 pedigrees. Out of 354 women studied up to 1 May 1987, 147 were identified as carriers because of pedigree information and/or of increased creatine phosphokinase (CPK) values. Of the remaining 207, 184 could be assigned to three arbitrarily defined risk categories (low, intermediate and high) using linkage analysis. This disaggregation of women at risk is clearly more useful than that defined before DNA analysis, in which the same 184 women could be assigned only to the low or intermediate risk categories. Prenatal diagnosis was theoretically possible in 90% of carrier women, and was actually performed in 14 pregnancies, which led to the identification of four affected male foetuses, one also having Down syndrome.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1041
    Keywords: verapamil ; plasma levels ; myocardial uptake ; verapamil metabolites ; patients
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary The plasma levels and myocardial content of verapamil and its metabolites norverapamil, N-dealkylverapamil and N-dealkylnorverapamil were determined in 15 patients with valvular [3] or ischaemic [12] heart disease. The mean myocardial plasma concentration ratio (M/P) was 7.05 for verapamil, 11.45 for norverapamil, 8.93 for N-dealkylverapamil, and 11.33 for N-dealkylnorverapamil, with great interpatient variability. The highest M/P ratios of verapamil were generally found in patients with the lowest plasma levels, suggesting that saturable tissue uptake may occur.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 0930-9225
    Keywords: Schlüsselwörter Koronarchirurgie – Echokardiographie – Diastolische Ventrikelfunktion – Zeitkonstante der myokardialen Relaxation ; Key words Coronary bypass surgery – diastolic function –¶echocardiography – time constant of relaxation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary There is evidence that diastolic function is a major determinant of overall cardiac performance. Intraoperative use of transesophageal echocardiography (TEE) enables Doppler measurement of mitral inflow pattern (E/A ratio). The E/A ratio is suggested to be a reliable index of changes in myocardial relaxation. In the present study we compared the time course of the E/A ratio and the time constant of myocardial relaxation (τ) assessed by direct left ventricular pressure recordings in patients before and after cardiopulmonary bypass (CPB). After ethical approval, 12 patients undergoing CABG surgery were studied. Measurements of the E/A ratio and τ were performed after induction of anesthesia (I), immediately prior to CPB with the pericardium open (II), 5 min after CPB (III), and after sternal closure (IV). Time constant of myocardial relaxation was calculated as the reciprocal value of the slope of the left ventricular dP/dt and left ventricular pressure plot. The E/A ratio was significantly decreased at the end of surgery (IV). In contrast, τ was increased immediately after CPB, but decreased after sternal closure (IV). Cardiac index and heart rate both increased after CPB.¶ The results of the present study demonstrate that diastolic dysfunction occurred immediately after CPB, as indicated by an increase in the time constant of myocardial relaxation. However, τ improved rapidly to pre-CPB values. The E/A ratio alone failed to detect the initial post-CPB alteration in left ventricular relaxation.
    Notes: Zusammenfassung Die Entwöhnung von der extrakorporalen Zirkulation (EKZ) stellt weiterhin eine kritische Phase während kardiochirurgischer Operationen dar. Es werden regelhaft myokardiale Funktionsstörungen beobachtet, wobei die diastolische Funktion nur eingeschränkt zu beurteilen ist. Die Einführung der transösophagealen Echokardiographie (TEE) ermöglicht dopplersonographisch die Differenzierung zwischen maximalem früh- (E) und spätdiastolischem (A) Blutfluß vom linken Atrium in den Ventrikel. Das Verhältnis von E zu A (E/A-Ratio) wird als ein Maß für die frühe diastolische Relaxation des Myokards angesehen. Wir untersuchten ob Änderungen der E/A-Ratio vor und nach Herz-Lungen-Maschine (HLM) mit Änderungen der durch direkte linksventrikuläre Druckmessung bestimmten Zeitkonstanten (τ) der frühen myokardialen Relaxation korrespondieren. Es wurden 12 koronarchirurgische Patienten mit eingeschränkter linksventrikulärer Funktion untersucht. Linksventrikulärer Druck und Druckabfallsgeschwindigkeit wurden mit einem Mikromanometerkatheter registriert. Zur Berechnung von τ wurde LVP gegen –dP/dt aufgetragen und mittels linearer Regressionsanalyse die Steigung der resultierenden Geraden bestimmt. Aus dem reziproken Wert der Steigung ergibt sich τ. Zur Bestimmung der E/A-Ratio wurde die Meßkammer des gepulsten Dopplers zwischen den Spitzen der Segel der Mitralklappe plaziert und der Bluteinstrom kontinuierlich bestimmt. Der mittlere arterielle, zentralvenöse Blutdruck und der pulmonalkapilläre Verschlußdruck sowie Herzfrequenz (HF) und Herzindex (HI) wurden nach Narkoseeinleitung (I), Eröffnung des Perikards (II), Entwöhnung von der HLM (III) und nach Sternalverschluß (IV) bestimmt. Die E/A-Ratio war am Ende der Operation (IV) signifikant erniedrigt. Im Gegensatz dazu war die Zeitkonstante der myokardialen Relaxation (τ) unmittelbar nach Abgang von der HLM signifikant (III) erhöht. HI und HF waren post-EKZ erhöht. Der nach Entwöhnung von der HLM gefundene Anstieg von τ ist hinweisend für eine diastolische Funktionsstörung, welche allerdings bereits am Punkt IV nicht mehr signifikant unterschiedlich zum Ausgangswert war. Die E/A-Ratio war hingegen unmittelbar post-HLM nicht signifikant erniedrigt.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 166 (1990), S. 168-173 
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 183 (1992), S. 829-835 
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 11 (1963), S. 156-159 
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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