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Sinéad M. Murphy MB BCh MRCPI Araya Puwanant MD the Consortium for Clinical Investigations of Neurological Channelopathies Inherited Neuropathies Consortium Consortia of the Rare Disease Clinical Research Network 《Annals of neurology》2012,72(4):481-490
Since the introduction of the Orphan Drug Act in 1983, designed to promote development of treatments for rare diseases, at least 378 orphan drugs have been approved. Incentives include financial support, tax credits, and perhaps most importantly, extended market exclusivity. These incentives have encouraged industry interest and accelerated research on rare diseases, allowing patients with orphan diseases access to treatments. However, extended market exclusivity has been associated with unacceptably high drug costs, both for newly developed drugs and for drugs that were previously widely available. We suggest that a paradoxical effect of orphan product exclusivity can be reduced patient access to existing drugs. In addition, the costs of each new drug are arguably unsustainable for patients and for the American health care system. Of all the specialties, neurology has the third highest number of orphan product designations, and neurological diseases account for at least one‐fifth of rare diseases. Citing the use of tetrabenazine for chorea in Huntington disease, adrenocorticotropic hormone for infantile spasms, and enzyme replacement therapy with alglucosidase alpha for Pompe disease, we highlight these paradoxical effects. ANN NEUROL 2012;72:481–490 相似文献
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Case report and review of nonischemic spontaneous papillary muscle rupture reports between 2000 and 2015
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Pishoy Gouda MB BCh BAO Lisa Weilovitch MD Ronak Kanani MD Bryan Har MD 《Echocardiography (Mount Kisco, N.Y.)》2017,34(5):786-790
Spontaneous papillary muscle rupture (PMR) is a rare cardiovascular emergency. We present a 63‐year‐old male who presents with acute dyspnea who was found to have an anterior PMR, with no evidence of coronary artery disease, infection, or trauma. A review of cases of nonischemic spontaneous PMR published in 2000–2015 identified 11 additional cases of spontaneous PMR. Posterior and anterior papillary muscles involvement was identified in 54.5% and 45.5% of cases, respectively. Rapid identification due to advances in imaging modalities and improved surgical management has led to optimal outcomes in patients with spontaneous PMR. 相似文献
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The effect of unit,depth, and probe load on the reliability of muscle shear wave elastography: Variables affecting reliability of SWE
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Riccardo Colantonio MD Azeem Latib MB BCh Giuseppe M. Sangiorgi MD FESC FSCAI 《Catheterization and cardiovascular interventions》2008,72(5):710-713
In this case report, we describe the use of coronary techniques and devices in the treatment of a complex popliteal artery bifurcation. In particular, we demonstrate that the Venture? wire control catheter is a useful tool not only in coronary lesions but also in wiring angulated peripheral lesions. © 2008 Wiley‐Liss, Inc. 相似文献
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Kent-Man Chu MB BS FRCS Ronnie Poon MB BS FRCS Henry H. Tuen MB BS Simon Y.K. Law MB BCh FRCS Frank J. Branicki DM FRCS FRACS John Wong PhD FRCS FACS 《Gastrointestinal endoscopy》1997,46(6):503-506
Background: A number of noncommercial preparations of urease test have been described. The present prospective study evaluated the accuracy of one such preparation for the diagnosis of Helicobacter pylori infection. Methods: From February 1996 to November 1996, all patients undergoing elective upper endoscopy in a single endoscopy facility were included. Three antral biopsy specimens were taken. Two specimens were subjected to histologic examination, and one specimen was placed into a “locally made rapid urease test” (LRUT). Results of histologic examinations were taken as standards for comparison. The final result of LRUT was obtained on scrutiny of color changes at 4 hours after the start of the test. Results: Two thousand three hundred sixteen patients (male/female = 1.5:1) with a mean age of 56.7 ± 0.4 years were included. Five hundred sixty-two patients (24.3%) had a history of eradication treatment for H. pylori. Nine hundred fifty-three patients (41.1%) were found to be positive for H. pylori on histologic examination. In patients in whom a history of eradication therapy was absent, the sensitivity, specificity, and positive and negative predictive values of the LRUT were 92.8%, 97.6%, 97.5%, and 93.0%, respectively. In patients with a history of eradication treatment, the corresponding figures were 76.1%, 99.6%, 96.2%, and 96.9%. Conclusions: The locally made rapid urease test provides a simple, safe, rapid, inexpensive, and accurate test for the diagnosis of H. pylori infection. (Gastrointest Endosc 1997;46:503-6.) 相似文献