41 research outputs found
A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism
No full textHeterozygous germline mutations in MTOR have been shown to underlie Smith–Kingsmore syndrome, a rare autosomal dominant syndrome characterized by macrocephaly, developmental delay, and dysmorphic facial features. Recently, two unrelated families with the MTOR mutation, c.5395G>A p.(Glu1799Lys), were reported. Here, we describe siblings from a non‐consanguineous German family in whom we identified the same heterozygous missense mutation in MTOR. Remarkably, in all reported families with Smith–Kingsmore syndrome and the MTOR c.5395G>A mutation, including the family described herein, healthy parents of recurrently affected children do not have detectable levels of the mutation in tested tissues, lending credence to gonadal mosaicism as the underlying mechanism. Furthermore, the glutamic acid at position 1799 was shown to present a recurrent somatic mutation site in several cancers, including colon cancer, pointing to a somatic mutational hotspot in MTOR. Importantly, we highlight the occurrence of multiple intestinal polyps in the older sibling. Further patients are required to establish definitively whether polyp formation forms part of the SKS clinical spectrum
Concepts, process and methods of social impact assessment
No full textIncludes bibliographical references.By Rabel J. Burdge and colleagues.Introducing Social Impact Assessment. Chapter 1. Social Impact Assessment: Definition and Historical Trends / Rabel J. Burdge -- Developing the Concept of Social Impact Assessment. Chapter 2. The Comparative Social Impact Assessment Model / Rabel J. Burdge and Sue Johnson -- Chapter 3. Social Impact Assessment and the Planning Process / Rabel J. Burdge -- Chapter 4. Identifying Social Impact Assessment Variables / Rabel J. Burdge -- The Process and Methods of Social Impact Assessment. Chapter 5. The Use of SIA Knowledge in Development Decisions / Roy E. Rickson, John S. Western and Rabel J. Burdge -- Chapter 6. The SIA Scoping Document: New Uses for Old Military Bases / Gary C. Machlis, Rabel J. Burdge and Paul S. George -- Chapter 7. U.S. Principles and Guidelines for Social Impact Assessment / The Interorganizational Committee on Principles and Guidelines for Social Impact Assessment -- Chapter 8. Participative or Analytical Social Impact Assessment? / Rabel J. Burdge -- Chapter 9. Special SIA Analytical Techniques: Rapid Rural Appraisal, Gender Analysis, Sustainability, Environmental Justice and Relocation / Rabel J. Burdge -- Chapter 10. The Place of SIA in Strategic Environmental Assessment / Rabel J. Burdge and Jeremy Carter -- Chapter 11. What the Decision-Maker Needs to Know About SIA / Rabel J. Burdge and Thayne Coulter -- Chapter 12. When is Social Impact Assessment Required? / C. Nicholas Taylor and Rabel J. Burdge -- Case Studies in Social Impact Assessment. Chapter 13. Utilizing Social History to Identify Impacts of Resource Development on Isolated Communities: The Case of Skagway, Alaska / Rabel J. Burdge, Donald R. Field, Stephen R. Wells -- Chapter 14. An Ex-Post Facto Analysis of the Social and Economic Impacts of Reservoir Development / Rabel J. Burdge -- Chapter 15. The Gateway Pacific Terminal and Deep Water Port: A Social Impact Assessment of Industrial Expansion / Student SIA Project -- Chapter 16. Building Low-Income Housing in Established Neighborhoods: Real versus Perceived Social Impacts / Rabel J. Burdge and Western Washington Students -- SIA and the Public Involvement Process. Chapter 17. Social Impact Assessment and the Public Involvement Process / Rabel J. Burdge and Robert A. Robertson -- Chapter 18. Community Needs Assessment and PI Techniques / Rabel J. Burdge -- Chapter 19. Making a Mountain Out of a Mole Hill: Using Public Involvement in Recreation Planning / Student Public Involvement Project -- Social Impact Assessment in an International Context. Chapter 20. The Benefits of SIA for Developing Countries / Rabel J. Burdge -- Chapter 21. The Adoption of SIA as a Decision and Planning Tool / Roy E. Rickson, Rabel J. Burdge, Tor Hundloe, and Geoffrey T. McDonald -- Chapter 22. Integrating SIA into the Planning Process / Roy E. Rickson, Rabel J. Burdge, and Audrey Armour -- Chapter 23. International Principles for Social Impact Assessment / Frank Vanclay and the SIA Committee of IAIA -- Chapter 24. The Future Practice of Social Impact Assessment / Rabel J. Burdge and Frank Vanclay
Un cuisant échec du sieur Rabel (1677)
No full textEin schmerzender Misserfolg des Herrn Rabel (1677).
Indem er das Register der Militärpersonen welche im Spital der Invalides aufgenommen wurden zitiert, gibt der Verfasser ein Beispiel von Geheimmitteluntersuchung im 17. Jht (1677). Es handelt sich um ein Wasser und ein Pulver womit Rabel Blutflüsse zu stillen behauptete. Vor vielen berühmten Ärtzten und Chirurgen wurde dies bei einem Soldaten probiert welcher einer Gliedabsetzung unterworfen war ; doch der Arme starb innerhalb drei viertel Stunden.A Disappointing Failure of Rabel (1677).
Citing the record book for military personnel admitted to Invalides Hospital, the author gives an example of the trial of a secret remedy of the 17th century (1677). It consisted of a water and a powder which Rabel claimed would stop hemorrhaging. He performed the experiment before a group of distinguished physicians and surgeons on a soldier who had to undergo an amputation. The unfortunate patient died within three-quarters of an hour.Julien Pierre. Un cuisant échec du sieur Rabel (1677). In: Revue d'histoire de la pharmacie, 62ᵉ année, n°223, 1974. pp. 229-231
Tectonic gene mutations in patients with Joubert syndrome
No full textSo far very few patients with sequence variants in the closely related tectonic genes TCTN1-3 have been described. By multi-gene panel next-generation sequencing (NGS) in patients with Joubert syndrome, we identified two more patients and summarize what is currently known about the phenotypes associated with sequence variants in these genes. In a boy aged 12 years with intellectual disability and the classical molar tooth sign on MRI, a homozygous splice-site sequence variant in TCTN3 leading to in-frame skipping of exon 7 was detected. A previously described non-truncating sequence variant in TCTN3 was also associated with Joubert syndrome, whereas four truncating sequence variants were detected in patients with Meckel-Gruber or Mohr-Majewski syndrome. The second patient, a boy aged 7 years with severe psychomotor retardation, was found to carry a homozygous canonic splice-site sequence variant in TCTN2. So far, only three sequence variants associated with Joubert syndrome and two with Meckel-Gruber syndrome have been described in this gene. Reviewing the clinical data on patients with sequence variants in the tectonic genes TCTN1-3 reveals that all of them have a neurological phenotype with vermis hypoplasia or occipital encephalocele associated with severe intellectual disability in the surviving patients. In contrast, other features frequently seen in patients with ciliopathies such as nephronophthisis, liver fibrosis, retinal dystrophy or coloboma have not been reported. Our patients emphasize the usefulness and efficacy of a comprehensive NGS panel approach. A concise genetic diagnosis may help to prevent unnecessary investigations and improve the clinical management of these patients
The Conflict of Laws: A Comparative Study. Volume Four Property: Bills and Notes: Inheritance: Trusts: Application of Foreign Law: lntertemporal Relations
No full textWith this fourth and final volume, the monumental survey of existing systems of conflicts law, initiated by the late Ernst Rabel in 1939 under the auspices of the American Law Institute but conducted after 1942 through the generous sponsorship of the University of Michigan Law School, is completed. It is most fortunate that, despite the fact that the present volume was prepared in various institutions during the years immediately preceding the author\u27s death on September 7, 1955, he not only finished but also revised the proofs of the text; the various tables were later compiled at Ann Arbor.https://repository.law.umich.edu/michigan_legal_studies/1009/thumbnail.jp
The Conflict of Laws: A Comparative Study, Second Edition. Volume Two. Foreign Corporations: Torts: Contracts in General
No full textThe second volume of Ernst Rabel\u27s comparative treatise on the conflict of laws was originally published in 1947. This new edition completes the plan to revise the first two volumes, as arranged with the approval of the author before his death on September 7, 1955. Pursuant to this plan, the present edition has been made possible through the continued support of the work by the University of Michigan Law School and the generous cooperation of the Max Planck-Institut für aüslindisches und internationales Privatrecht in Hamburg, in making available the competent services of a member of the staff of the Institut, Dr. Ulrich Drobnig, who utilized the special facilities at the Legal Research Building in Ann Arbor from July, 1955, to June, 1956. In accordance with the advice of the author, whom Dr. Drobnig fortunately was able to consult before undertaking the revision of the two volumes, the collection and inclusion of new material in the author\u27s text has been strictly limited to the addition of new citations and illustrations. Consequently, alterations of the text proper, as distinguished from the footnotes, have been avoided as far as possible. The additional material covers publications up to July 1, 1956, but with the continued co-operation of the Institut after Dr. Drobnig\u27s return to Germany, account has been taken of later developments up to January 1, 1959.https://repository.law.umich.edu/michigan_legal_studies/1011/thumbnail.jp
The Conflict of Laws: A Comparative Study, Second Edition. Volume Three. Special Obligations: Modification and Discharge of Obligations
No full textThe third volume of Ernst Rabel\u27s comparative treatise on the conflict of laws was originally published in 1950. With the continued support ofThe University of Michigan Law School and the cooperation of the Max-Planck-Institut für auslaändisches und internationals Privatrecht in Hamburg, this second edition of Volume III has been prepared. Plans for the revision of Volumes I and II were made before the death of the author on September 7, 1955, and the work was carried to completion by Dr. Ulrich Drobnig of the staff of the Institut in Hamburg. We were fortunate in obtaining the services of another well-qualified member of the staff of that Institut, Dr. Herbert Bernstein, who spent the academic year 1962-1963 as research associate at The University of Michigan Law School. As in previous revisions of this work, this volume has very few changes in the text, as distinguished from the footnotes. Citations and illustrations have been brought up to date to the end of 1962.https://repository.law.umich.edu/michigan_legal_studies/1012/thumbnail.jp
The Conflict of Laws: A Comparative Study, Second Edition. Volume One. Introduction: Family Law
No full textThis volume, the first in Ernst Rabel\u27s monumental comparative treatise on the conflict of laws, was initially published in 1945. Since then three additional volumes have been added, completing the survey of the systems of conflicts law as originally contemplated. Meanwhile, the first edition of the first two volumes has been exhausted for some time, and the literature of conflicts law has substantially increased, reflecting the new developments that have taken place since 1945. Accordingly, plans for a new edition of the first two volumes were discussed with the author before his death on September 7, I955, and were approved by him; these plans contemplated that the manuscript should be prepared by an assistant of the Institute of Foreign and International Private Law, formerly directed by the author, who should be entrusted with the formidable task of integrating with the original text the relevant conflicts materials which have appeared during the international turmoil of the past decade.
This new edition has thus been made possible through the continued support of this research by the University of Michigan Law School and the generous cooperation of the Institute, now the Max-Planck-Institut in Hamburg, in making available the competent services of a member of the staff of the Institute, Dr. Ulrich Drobnig, who utilized the special facilities at the Legal Research Building in Ann Arbor from July 1955, to June I956. In accordance with the advice of the author, whom Dr. Drobnig fortunately was able to consult before undertaking the revision of the two volumes, the collection and inclusion of new material in the author\u27s text has been strictly limited to the addition of new citations and illustrations. Consequently, alterations of the text proper, as distinguished from the footnotes, have been avoided as far as possible. The additional material covers publications up to July 1956, but it has been possible to take account of a few later developments. The revised edition of the second volume is to follow in the near future.https://repository.law.umich.edu/michigan_legal_studies/1010/thumbnail.jp
Experimental and computational magnetic surface mapping of the HIDRA stellarator
No full textHIDRA, the Hybrid Illinois Device for Research and Applications, is a newly acquired fusion device by the University of Illinois at Urbana-Champaign. It is an l = 2 machine with a five-fold toroidal symmetry, that was previously run by the Max-Planck-Institut für Plasmaphysic in Greifswald under the name WEGA. Even with its much lower plasma temperature and density when compared to bigger machines such as EAST and W7-X, HIDRA can be used to conduct plasma-material interaction experiments. Its particle and heat fluxes should be high enough to test and develop novel plasma facing components, with a main focus on liquid lithium designs such as the FLiLi (Flowing Liquid Lithium) and the LiMIT (Liquid-Metal Infused Trenches) concepts. With the planning of new experiments to test both FLiLi and LiMIT plates on HIDRA, characterizing the magnetic configuration of the device is necessary. While previous campaigns were conducted on WEGA for the same purpose, with the disassembly and re assembly of HIDRA, the physical disposition of the coils and/or vacuum vessel may have been offset by even the slightest of margins. This can lead to additional perturbations of the magnetic field, changing the magnetic topology of the device.
The electron gun and fluorescent detector technique was employed to experimentally measure the magnetic surfaces for rotational transform values of 1/3, 1/4 and 1/5. The electron gun used consists of a tungsten filament and fires free electrons at adjustable radial positions in the direction of the field. A moving rod covered with a zinc oxide (ZnO) powder was chosen as the fluorescent detector. The rod was used to sweep across fixed poloidal cross sections, at toroidal angles of φ = 144○ and φ = 216○ . Because of the five-fold toroidal symmetry of HIDRA, both positions display identical magnetic surfaces. A long-time integrating CCD-camera was used to capture the electron traces from the luminescent traces on the rod. The camera images were then used to build up Poincaré plots of the electron trajectories. This was carried out for the various rotational transforms, with and without the addition of a vertical field. The resulting images didn’t have the same resolution as the WEGA images, but still exhibited similar features. In particular, the n = 1 non-natural islands were visible on the HIDRA magnetic flux surfaces in almost the same position as they were seen on the WEGA ones. While the electron trajectories are subject to drifts from the curvature and gradient of the magnetic field, the induced displacement from the field lines is relatively small on the order of a few millimeters. Hence, the experimentally obtained surfaces derived from the electron traces are close enough to the magnetic flux surfaces.
Computational magnetic flux surface images were also generated. For this, the FIELDLINES code of the STELLOPT suite of codes was used. The expected n = 1 error field was added to the code source files to reproduce the physical system at hand. The code follows field lines from an initial set of generators for 1000 toroidal transits. A poloidal section is then taken at a computational toroidal angle corresponding to the physical φ = 216 . Processing the coordinates of the magnetic surfaces in the Poincaré section allowed to estimate the location of the magnetic axis as well as determine the last closed flux surface (LCFS). To obtain smooth and closed magnetic surfaces, the ones inside the LCFS were filtered with a Savitzky-Golay filter after applying a change of coordinates to the local polar coordinate system centered at the magnetic axis. The filtered magnetic surfaces are then traced back into FIELDLINES. From the new output, the magnetic axis is found, and Poincaré sections are generated. This routine is repeated for every magnetic configuration tested during the experimental runs.
Because of the limitations of the experimental apparatus and little time available to run the experiments, the obtained experimental images had a much lower quality than those generated computationally through FIELDLINES. The experimental images suffered in particular from heavy outgassing of the walls, which led to a background noise that was very difficult to filter out. Therefore, the comparison between the experimental and computational images was mainly qualitative. The two showed similar features from the location, size and shape of the magnetic islands, to the location of the magnetic axis and overall size of the magnetic flux surfaces. The results are also very close to those reported from the WEGA campaigns, suggesting that the experienced error field is similar and probably coming from the same origin. The effect of the vertical field was also investigated and shown to effectively suppress the non-natural islands and shift the position of the magnetic axis. However, because the camera didn’t have a direct perpendicular view to the fluorescing rod, the experimentally measured magnetic axis radial shift was smaller than the predicted ∆R ≈ 2 cm. Similarly, the measured magnetic axis radial position from the experimental images was higher than the expected R ≈ 70.5 cm at R = 71.2 cm. This misalignment of the camera perspective was hinted at by the higher density of electron traces observed near the low-field side on the experimental images. Taking this into account explains the difference between the experimental and computational images.
The additional control given by the vertical coils is very useful to carry out the upcoming tests of plasma facing components inside HIDRA. Apart from removing the low-order rational resonances, shifting the magnetic axis towards the high-field side by ≈ 2 cm creates additional space to maneuver and install various systems along with their support structure. Manipulating the rotational transform in combination with adding a vertical field can displace the plasma and change its angle and point of contact with the surface of the tested component. Knowing the magnetic topology of HIDRA and the control that can be applied on its magnetic structure, a LiMIT and FLiLi setup to be installed inside the vacuum vessel is being designed. A smaller collector and LiMIT plate than the ones planned for the EAST runs have already been machined, with plans to further reduce the plate size being considered. The mapping of the HIDRA magnetic flux surfaces will also be used to create a magnetic grid for the machine that would allow computational calculations of the particle and heat fluxes the plates will be subject to. Experiments to verify these fluxes are being planned.Submission published under a 24 month embargo labeled 'U of I Access', the embargo will last until 2021-05-01The student, Rabel Rizkallah, accepted the attached license on 2019-04-24 at 14:04.The student, Rabel Rizkallah, submitted this Thesis for approval on 2019-04-24 at 15:18.This Thesis was approved for publication on 2019-04-25 at 13:18.DSpace SAF Submission Ingestion Package generated from Vireo submission #13883 on 2019-08-22 at 15:08:18Made available in DSpace on 2019-08-23T20:36:10Z (GMT). No. of bitstreams: 2
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Towards an understanding of the effect of commercial/industrial activity on the quality of the recreation experience within urban river corridors
No full textThe purpose of this study was to analyze the influence of commercial/industrial activity on the quality of the recreation experience for participants in both water-based or water-enhanced outdoor recreation activities within an urban river corridor. In addition, the study specifies the relationship between social, psychological and use characteristics of these participants, and the degree to which their enjoyable recreational use of the urban river corridor is impaired by commercial/industrial activity. The research setting for this study is the Illinois & Michigan Canal National Heritage Corridor in North Central Illinois. Path analysis was used to examine these relationships. The results of the study suggest that degree to which commercial/industrial activity detracts from the level of satisfaction with the recreation experience can partially be attributed to the specific category of commercial/industrial use the specific recreation activity and social, psychological and use characteristics of the recreationist. The information contained in this dissertation should allow for a more successful integration of a wide range of commercial/industrial and recreational uses of urban river corridors.Made available in DSpace on 2011-05-07T13:40:15Z (GMT). No. of bitstreams: 2
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