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  • 1
    Electronic Resource
    Electronic Resource
    Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene (1996)
    Springer
    Human genetics 〈Berlin〉 99 (1996), S. 88-92 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders. It is caused by mutations in the NF1 gene which comprises 60 exons and is located on chromosome 17q. The NF1 gene product, neurofibromin, displays partial homology to GTPase-activating protein (GAP). The GAP-related domain (GRD), encoded by exons 20–27a, is the only region of neurofibromin to which a biological function has been ascribed. A total of 320 unrelated NF1 patients were screened for mutations in the GRD-encoding region of the NF1 gene. Sixteen different lesions in the NF1 GRD region were identified in a total of 20 patients. Of these lesions, 14 are novel and together comprise three missense, two nonsense and three splice site mutations plus six deletions of between 1 and 4 bp. The effect of one of the missense mutations (R1391S) was studied by in vitro expression of a site-directed mutant and GAP activity assay. The mutant protein, R1391S, was found to be some 300-fold less active than wild-type NF1 GRD. The mutations reported in this study therefore provide further material for the functional analysis of neurofibromin as well as an insight into the mutational spectrum of the NF1 GRD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050317
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Lead in Buildings and Surveyors' Responsibilities (1994)
    Bingley : Emerald
    Structural survey 12 (1994), S. 15-17 
    Details
    ISSN: 0263-080X
    Source: Emerald Fulltext Archive Database 1994-2005
    Topics: Architecture, Civil Engineering, Surveying
    Notes: Draws attention to the poisonous effects of lead and details thelegislation which protects those who work in industries which use leadin their processes and manufactures. Gives particular consideration tolead in paint, especially to be found in houses built pre-1965, and theinherent dangers in the removal of such paint to contractors, DIYenthusiasts and the occupants, especially children, who are moresusceptible to lead absorption. Provides details of preventive measures,and concludes that surveyors have a responsibility to warn of thedangers of lead in property and to test for its presence in paint andwater supplies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1108/02630809410049130
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Effects of Slow Pathway Ablation on Fast Pathway Function in Patients with Atrioventricular Nodal Reentrant Tachycardia (1997)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of cardiovascular electrophysiology 8 (1997), S. 0 
    Details
    ISSN: 1540-8167
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Effects of Slow Pathway Ablation. Introduction: This study investigated whether fast pathway conduction properties are altered by slow pathway ablation in patients with AV nodal reentrant tacbycardia.Methods and Results: Forty consecutive patients who underwent successful ablation of the slow pathway were prospective subjects for the study. Isoproterenol was used to enhance conduction and to differentiate interactive mechanisms. Potential electrotonic interactions were assessed by comparing patients with and those without residual dual AV node pbysiology after slow pathway ablation. Paired and unpaired t-tests were used when appropriate. P 〈 0.05 was considered statistically significant. In the entire study population, heart rates were not significantly different before and after slow pathway ablation (RR = 770 ± 114 msec before and 745 ± 99 msec after, P = 0.07). Anterograde fast pathway conduction properties were unchanged after slow pathway ablation (effective refractory period, 348 ± 84 msec before and 336 ± 86 msec after, P = 0.13; shortest 1:1 conduction, 410 ± 93 msec before and 400 ± 82 msec after, P = 0.39). Retrograde fast pathway characteristics also were similar before and after ablation. Neither anterograde nor retrograde last pathway conduction properties during isoproterenol infusion were changed by slow pathway ablation. When the study population was further divided into patients with (n= 13) or without (n = 27) residual dual AV node pbysiology, no significant change was detected in fast pathway function in either group after slow patbway ablation.Conclusions: Fast pathway conduction characteristics were not affected by slow pathway ablation. In patients with AV nodal reentrant tachycardia, observations suggest that fast and slow pathways are functionally distinct.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1540-8167.1997.tb01825.x
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  • 4
    Electronic Resource
    Electronic Resource
    Is Sinus Node Modification Appropriate for Inappropriate Sinus Tachycardia with Features of Postural Orthostatic Tachycardia Syndrome? (2001)
    Oxford, UK : Blackwell Futura Publishing, Inc.
    Pacing and clinical electrophysiology 24 (2001), S. 0 
    Details
    ISSN: 1540-8159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: SHEN,W.-K., et al.: Is Sinus Node Modification Appropriate for Inappropriate Sinus Tachycardia with Features of Postural Orthostatic Tachycardia Syndrome? Inappropriate sinus tachycardia and postural orthostatic tachycardia are ill-defined syndromes with overlapping features. Although sinus node modification has been reported to effectively slow the sinus rate, long-term clinical response has not been adequately assessed. Furthermore, whether patients with postural orthostatic tachycardia would benefit from sinus node modification is unknown. The study prospectively assessed the short- and long-term clinical outcomes of seven consecutive female patients with postural orthostatic tachycardia syndrome and inappropriate sinus tachycardia who were treated with sinus node modification. The study was conducted in a tertiary care center. The electrophysiological and clinical responses were prospectively assessed as defined by autonomic function testing, including Valsalva maneuver, deep breathing, tilt table testing, and quantitative sudomotor axonal reflex testing. Among the study population (mean age was 41 ± 6 years), 5 (71%) patients had successful sinus node modification. At baseline, heart rates were 101 ± 12 beats/min before modification and 77 ± 9 beats/min after modification (P = 0.001). With isoproterenol, heart rates were 136 ± 9 and 105 ± 12 beats/min (P = 0.002) before and after modification, respectively. The mean heart rate during 24-hour Holter monitoring was also significantly reduced: 96 ± 9 and 72 ± 6 beats/min (P = 0.005) before and after modification, respectively. Despite the significant reduction in heart rate, autonomic symptom score index (based on ten categories of clinical symptoms) was unchanged before (15.6 ± 4.1) and after (14.6 ± 3.6) sinus node modification (P = 0.38). Sinus rate can be effectively slowed by sinus node modification. Clinical symptoms are not significantly improved after sinus node modification in patients with inappropriate sinus tachycardia and postural orthostatic tachycardia. A primary subtle autonomic disregulation is frequently present in this population. Sinus node modification is not recommended in this patient population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1460-9592.2001.00217.x
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    Paper (German National Licenses)
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