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  • 1
    Electronic Resource
    Electronic Resource
    Huntington disease-linked locusD4S111 exposed as the α-l-iduronidase gene (1991)
    Springer
    Somatic cell and molecular genetics 17 (1991), S. 421-425 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract α-l-Iduronidase (IDUA) has been intensively studied due to its causative role in mucopolysaccharidosis type I (Hurler, Scheie and Hurler/Scheie syndromes). The recent cloning of a human IDUA cDNA has resulted in a reevaluation of the chromosomal location of this gene. Previously assigned to chromosome 22, IDUA now has been localized to 4p16.3, the region of chromosome 4 associated with Huntington's disease (HD). The existence of a battery of cloned DNA, physical map information, and genetic polymorphism data for this region has allowed the rapid fine mapping of IDUA within the terminal cytogenetic band of 4p. IDUA was found to be coincident with D4S111, an anonymous locus displaying a highly informative multiallele DNA polymorphism. This map location, 1.1×106 bp from the telomere, makes IDUA the most distal cloned gene assigned to 4p. However, it falls within a segment of 4p16.3 that has been eliminated from the HD candidate region, excluding a role for IDUA in this disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01233067
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Characterization of pyrazofurin-resistant HeLa cells with amplification of UMP synthase gene (1985)
    Springer
    Somatic cell and molecular genetics 11 (1985), S. 359-369 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Three different phenotypes have been characterized in HeLa cells that have been selected for resistance to pyrazofurin, a potent inhibitor of the de novo pyrimidine biosynthetic enzyme UMP synthase. All of the resistant cell lines had a coordinate increase in UMP synthase activity, UMP synthase-specific mRNA, and UMP synthase gene sequences. In one of the resistant cell lines, the amplification of the UMP synthase gene is associated with a stable phenotype. There is no decrease in UMP synthase gene copy number or UMP synthase activity when these cells are grown for over six months in the absence of pyrazofurin. Another resistant cell line that has a higher level of gene amplification when grown in the presence of pyrazofurin loses its elevated UMP synthase activity and amplified DNA sequences with growth in the absence of the drug. A third cell line that possessed a moderate level of UMP synthase gene amplification is tenfold more resistant to pyrazofurin than the cell line with the highest level of amplification. The extraordinary level of resistance is due to a decreased level of activity for the enzyme adenosine kinase that is required for the conversion of pyrazofurin to its inhibitory monophosphate form.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01534413
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  • 3
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    Estimating uncertainty in ecosystem budget calculations (2010)
    Springer
    Details
    Publication Date: 2022-05-25
    Description: © The Authors, 2010. This article is distributed under the terms of the Creative Commons Attribution-Noncommercial License. The definitive version was published in Ecosystems 13 (2010): 239-248, doi:10.1007/s10021-010-9315-8.
    Description: Ecosystem nutrient budgets often report values for pools and fluxes without any indication of uncertainty, which makes it difficult to evaluate the significance of findings or make comparisons across systems. We present an example, implemented in Excel, of a Monte Carlo approach to estimating error in calculating the N content of vegetation at the Hubbard Brook Experimental Forest in New Hampshire. The total N content of trees was estimated at 847 kg ha−1 with an uncertainty of 8%, expressed as the standard deviation divided by the mean (the coefficient of variation). The individual sources of uncertainty were as follows: uncertainty in allometric equations (5%), uncertainty in tissue N concentrations (3%), uncertainty due to plot variability (6%, based on a sample of 15 plots of 0.05 ha), and uncertainty due to tree diameter measurement error (0.02%). In addition to allowing estimation of uncertainty in budget estimates, this approach can be used to assess which measurements should be improved to reduce uncertainty in the calculated values. This exercise was possible because the uncertainty in the parameters and equations that we used was made available by previous researchers. It is important to provide the error statistics with regression results if they are to be used in later calculations; archiving the data makes resampling analyses possible for future researchers. When conducted using a Monte Carlo framework, the analysis of uncertainty in complex calculations does not have to be difficult and should be standard practice when constructing ecosystem budgets.
    Keywords: Monte Carlo ; Hubbard Brook ; Forest biomass ; Allometric equations ; Error analysis ; Ecosystem N budget
    Repository Name: Woods Hole Open Access Server
    Type: Article
    Format: application/vnd.ms-excel
    Format: application/pdf
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  • 4
    Electronic Resource
    Electronic Resource
    Reperfusion injury to endothelial cells after cold storage of rat livers: protection by mildly acidic pH and lack of protection by antioxidants (1995)
    Springer
    Transplant international 8 (1995), S. 77-85 
    Details
    ISSN: 1432-2277
    Keywords: Preservation, endothelial cells, rat liver ; Endothelial cells, preservation, rat liver ; Reperfusion injury, rat liver ; Liver, rat, reperfusion injury
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Lethal reperfusion injury to sinusoidal endothelial cells occurs after cold ischemic storage of livers and may be responsible for liver graft failure from storage injury. Here, we evaluated potential mechanisms underlying this reperfusion injury. In rat livers stored in Euro-Collins solution for 24 h and reperfused with Krebs-Henseleit bicarbonate buffer, nonparenchymal cell killing showed periportal predominance as assessed by nuclear staining with trypan blue. In livers reperfused in the retrograde direction, the lobular distribution of cell killing was reversed, indicating that cell killing was more rapid in oxygenrich upstream regions. However, antioxidants, including allopurinol, desferrioxamine, catalase, superoxide dismutase, superoxide dismutase plus catalase, and U74006F, did not reduce cell killing. Similarly, reperfusion with anoxic buffer did not prevent lethal injury. Antioxidants and anoxic reperfusion also did not improve cell viability in livers stored in UW solution. Nevertheless, superoxide generation, as identified by formazan formation from nitroblue tetrazolium, was increased in Kupffer cells after lives storage and reperfusion as compared to unstored livers. Acidification of the reperfusion buffer from pH 7.4 to pH 7.15 reduced overall nonparenchymal cell killing from about 40% to 10%. Moreover, a pH gradient developed across the liver lobule during reperfusion with the effluent 0.2–0.4 pH units more acidic than the influent. This intralobular pH gradient appears to account for the relative sparing of cells in more acidic downstream regions of the lobule. Lower temperatures of reperfusion also reduced lethal injury. In conclusion, Kupffer cells generated superoxide after perfusion of stored rat livers, but formation of oxygen free radicals did not appear to contribute to lethal reperfusion injury to endothelial cells. Rather, mildly acidotic pH was protective against lethal injury. Thus, hydrogen ion concentration may be a critical determinant of reperfusion injury to sinusoidal endothelial cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00344415
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  • 5
    Electronic Resource
    Electronic Resource
    Bemerkungen über die thierischen Melanine und das Hämosiderin (1890)
    Springer
    Virchows Archiv 120 (1890), S. 204-217 
    Details
    ISSN: 1432-2307
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01929281
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  • 6
    Electronic Resource
    Electronic Resource
    Severe combined immune deficiencies due to defects of the common γ chain-JAK3 signaling pathway (1998)
    Springer
    Springer seminars in immunopathology 19 (1998), S. 401-415 
    Details
    ISSN: 1432-2196
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Conclusions The recent elucidation of the molecular basis of T−B+SCID has led to significant advances in both basic and clinical immunology. The demonstration of mutation of lye and JAK3 as the pathogenetic basis for X-linked and autosomal-recessive T−B+SCID, respectively, has further substantiated the importance of cytokines like IL-2, IL-4, IL-7, IL-9, and IL-15 in the development and regulation of the immune system. Moreover, it demonstrates clearly the essential role of JAK-STAT signaling pathway in controlling the immune response. On the other hand, the identification of two of the disease genes for T−B+SCID has made it possible to perform specific mutation analysis, thus allowing correct clinical diagnosis in sporadic cases of T−B+SCID and, more importantly, opening the way to prenatal testing and direct assessment of carrier status. These possibilities offer obvious advantages to families during the decision making process of planning and continuing pregnancies Finally, these discoveries assist physicians to schedule and implement clinical management strategies (prenatal and postnatal BMT, gene therapy) for affected children.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00792599
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  • 7
    Electronic Resource
    Electronic Resource
    Severe combined immune deficiencies due to defects of the common γ chain-JAK3 signaling pathway (1998)
    Springer
    Springer seminars in immunopathology 19 (1998), S. 401-415 
    Details
    ISSN: 1432-2196
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00792599
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    Paper (German National Licenses)
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  • 8
    Electronic Resource
    Electronic Resource
    Synchronous multicentric osteosarcoma: the case for metastases (1997)
    Springer
    Skeletal radiology 26 (1997), S. 569-578 
    Details
    ISSN: 1432-2161
    Keywords: Key words Osteosarcoma ; Multicentric ; Metastatic
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Objective. There is a current debate whether multicentric osteosarcoma represents synchronous multiple primary osteosarcomas or metastatic disease. The purpose of this report is to evaluate the etiology, presentation, and classification of this entity. Design and patients. Six patients ranging in age from 7 to 29 years were studied. The clinical, radiographic, and pathologic findings are reported. In addition, a review of the literature was undertaken. Results. The clinical courses of our six patients as well as a review of the literature suggest that multicentric osteosarcoma represent one extreme of a continuous scale of metastatic osteosarcoma rather than multiple synchronous primary tumors. The presentation is unusual and the clinical behavior distinctive, but the mechanism of spread remains the same: blood-borne and lymphatic-borne. Conclusions. Our experience with these six patients supports the concept in the recent literature that synchronous osteosarcoma is one extreme of the spectrum of metastatic osteosarcoma. Its unique features are: (1) multiple radiodense lesions that present simultaneously with or without pulmonary metastases; (2) a single ”dominant” lesion with multiple smaller lesions; and (3) a uniformly rapid, fatal prognosis. Osteosarcoma should be regarded as a metastatic disease, even when only a single primary lesion is found at the initial presentation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002560050289
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  • 9
    Electronic Resource
    Electronic Resource
    A new in vivo technique for three-dimensional shoulder kinematics analysis (1998)
    Springer
    Skeletal radiology 27 (1998), S. 92-97 
    Details
    ISSN: 1432-2161
    Keywords: Key words Upper extremity ; Shoulder ; Kinematics ; Magnetic resonance imaging (MRI) ; 3D imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Objective. The field of shoulder kinematics research has long relied upon the use of cadaveric models or invasive techniques in human volunteers. In this paper, a novel method is presented that utilizes magnetic resonance imaging (MRI) and a software system called 3DVEWNIX. This method permits non-invasive, repetitive evaluation of living patients for glenohumeral kinematics analysis. The objectives of this study were twofold: to validate the quantitative accuracy of this technique; and to demonstrate glenohumeral relationships in asymptomatic volunteers during internal and external rotation of the arm. Design. The translational accuracy was first assessed by comparing known cadaveric glenohumeral translations with calculations from MR images of the cadaver. Nine asymptomatic volunteers were subsequently placed in an external shoulder positioning device in the scanner and imaged in 10° increments of actively achieved internal and external rotation. Three-dimensional reconstructions of the glenoid and humerus were used to evaluate the glenohumeral relationships in the tested positions of rotation. Results. The quantitative analysis revealed an error of 0.61 mm (SEM 0.11 mm). Examination of the volunteers demonstrated normal relationships about the glenohumeral joint in internal and external rotation. In addition, this method provided detailed images of the bony surface architecture from any perspective. These images can be transformed into a cinematic three-dimensional depiction of active shoulder rotation. Conclusion. This new technique offers an accurate, non-invasive method for assessing the normal glenohumeral relationships in shoulder kinematics. We now possess the capability to investigate the kinematics of normal and abnormal shoulder conditions non-invasively in a large patient population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002560050344
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  • 10
    Electronic Resource
    Electronic Resource
    MR imaging of ulnar nerve entrapment secondary to an anomalous wrist muscle (1998)
    Springer
    Skeletal radiology 27 (1998), S. 218-221 
    Details
    ISSN: 1432-2161
    Keywords: Key words MRI ; Anomalous muscle ; Ulnar tunnel ; Wrist ; Compression neuropathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  MR imaging of an anomalous hypothenar adductor muscle causing isolated deep ulnar nerve branch compression and producing a purely motor neuropathy is presented. The muscle appears to represent a type 1 variant of the intrinsic anomalous hypothenar adductor muscle.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002560050369
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    Paper (German National Licenses)
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