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1.
2.
Neurofibromatosis 2 (NF2) is an inherited cancer syndrome resulting from
mutations in the NF2 tumor suppressor gene. Analysis of NF2 mutations has
revealed some general genotype-phenotype correlations. Severe disease has
been associated with mutations that produce a premature termination while
more mild disease has been associated with missense mutations. Here, we
provide experimental proof for these genotype-phenotype correlations by
demonstrating that nonsense mutations fail to produce stable merlin protein
while missense mutations result in the generation of merlin proteins
defective in negative growth regulation. This inability to suppress cell
growth may result from defects in the function of merlin at several levels,
including failure to form an intramolecular complex. Based on these
findings, we propose a model for merlin growth suppression that provides a
framework for analyzing NF2 patient mutations and merlin function.
相似文献
3.
Breast cancer detection: one versus two views 总被引:2,自引:0,他引:2
Mammographic examinations of 169 patients with 172 biopsy-proved carcinomas, and of 194 healthy subjects, were interpreted independently and retrospectively by three experienced mammographers, initially as single-view oblique examinations and 6 months later as two-view oblique-cephalocaudal examinations. For the single-view examinations of the cancer patients, 67% of the cancers were correctly recommended for biopsy, additional views were requested for 23%, and a "negative" interpretation was made for 10%. For the single-view examinations of healthy subjects, biopsy was recommended for 7% and additional views were recommended for 32%. For the two-view examinations of women with cancer, 80% of the cancers were correctly recommended for biopsy, additional views were requested for 4%, and a "negative" interpretation was made for 16%. For two-view examinations of healthy subjects, biopsy was recommended for 7% and additional views were requested for only 5%. The authors conclude that single-view screening should not be performed, because it would lead to an excessive number of "call-back" examinations of healthy patients, producing additional cost and anxiety that would outweigh any theoretical benefit. 相似文献
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Carla Palleis MD Julia Sauerbeck Leonie Beyer MD Stefanie Harris Julia Schmitt Estrella Morenas-Rodriguez PhD Anika Finze Alexander Nitschmann Francois Ruch-Rubinstein Florian Eckenweber Gloria Biechele Tanja Blume MSc Yuan Shi PhD Endy Weidinger MD Catharina Prix MD Kai Bötzel MD Adrian Danek MD Boris-Stephan Rauchmann MD Sophia Stöcklein MD Simon Lindner PhD Marcus Unterrainer MD Nathalie L. Albert MD Christian Wetzel PhD Rainer Rupprecht MD Axel Rominger MD Peter Bartenstein MD Jochen Herms MD Robert Perneczky MD Christian Haass PhD Johannes Levin MD Günter U. Höglinger MD Matthias Brendel MD 《Movement disorders》2021,36(4):883-894
6.
Mayo Weiss Ruediger G.H. Baumeister Andreas Frick Jens Wallmichrath Peter Bartenstein Axel Rominger 《Korean journal of radiology》2015,16(1):188-195
ObjectiveThe aim of this prospective study was to determine whether the additional use of the single photon emission computed tomography/CT (SPECT/CT) technique improves the diagnostic value of planar lymphoscintigraphy in patients presenting with primary lymph edema of the lower limb.ResultsIn comparison to pathological planar scintigraphic findings, the addition of SPECT/CT provided relevant additional information regarding the presence of dermal backflow (86%), the anatomical extent of lymphatic disorders (64%), the presence or absence of lymph nodes (46%), and the visualization of lymph vessels (4%).ConclusionAs an adjunct to planar lymphoscintigraphy, SPECT/CT specifies the anatomical correlation of lymphatic disorders and thus improves assessment of the extent of pathology due to the particular advantages of tomographic separation of overlapping sources. The interpretation of scintigraphic data benefits not only in baseline diagnosis, but also in physiotherapeutical and microsurgical treatments of primary lymphedema. 相似文献
7.
[Purpose] The purpose of this study was to investigate the use of smartphones by
university students in selected areas, their musculoskeletal symptoms, and the associated
hazard ratio. [Subjects and Methods] This involved the completion of a self-administered
questionnaire by dental hygiene students in Seoul, Gyeonggido, and Gyeongsangbukdo. The
292 completed copies of the questionnaire were then analyzed. [Results] The most painful
body regions after the use of smartphones were found to be the shoulders and neck. In the
musculoskeletal system, back pain was found to have a positive correlation with the size
of the smartphone’s liquid crystal display (LCD) screen, and pain in legs and feet were
found to have a negative correlation with the length of time that the smartphone was used.
As a result, it was revealed that the use of a smartphone was correlated with
musculoskeletal symptoms. [Conclusion] Therefore, in today’s environment, where the use of
smartphones is on the rise, it is necessary to improve the ways that they are used and to
develop a preventive program to alleviate the symptoms of musculoskeletal damage.Key words: Smartphone, Musculoskeletal symptoms, Prevent 相似文献
8.
The accuracy of International Classification of Diseases coding for dental problems not associated with trauma in a hospital emergency department 下载免费PDF全文
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10.
DH Mallon M Kostalas FJ MacPherson A Parmar A Drysdale E Chisholm 《Annals of the Royal College of Surgeons of England》2013,95(4):258-262