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991.
Jeffrey P. Krischer Rashmi Gopal-Srivastava Stephen. C. Groft David J. Eckstein for the Rare Diseases Clinical Research Network 《Journal of general internal medicine》2014,29(3):739-744
Established in 2003 by the Office of Rare Diseases Research (ORDR), in collaboration with several National Institutes of Health (NIH) Institutes/Centers, the Rare Diseases Clinical Research Network (RDCRN) consists of multiple clinical consortia conducting research in more than 200 rare diseases. The RDCRN supports longitudinal or natural history, pilot, Phase I, II, and III, case–control, cross-sectional, chart review, physician survey, bio-repository, and RDCRN Contact Registry (CR) studies. To date, there have been 24,684 participants enrolled on 120 studies from 446 sites worldwide. An additional 11,533 individuals participate in the CR. Through a central data management and coordinating center (DMCC), the RDCRN’s platform for the conduct of observational research encompasses electronic case report forms, federated databases, and an online CR for epidemiological and survey research. An ORDR-governed data repository (through dbGaP, a database for genotype and phenotype information from the National Library of Medicine) has been created. DMCC coordinates with ORDR to register and upload study data to dbGaP for data sharing with the scientific community. The platform provided by the RDCRN DMCC has supported 128 studies, six of which were successfully conducted through the online CR, with 2,352 individuals accrued and a median enrollment time of just 2 months. The RDCRN has built a powerful suite of web-based tools that provide for integration of federated and online database support that can accommodate a large number of rare diseases on a global scale. RDCRN studies have made important advances in the diagnosis and treatment of rare diseases. 相似文献
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The use of shoulder braces has become more important recently. Although the effectiveness and actual need of different shoulder braces have not yet undergone an evidence-based evaluation, empirical data shows differentiated use of shoulder braces not only in postoperative care but also for non-surgical treatment. For this, not only biological factors (lengths of immobilisation and tissue healing), but also biomechanical factors (pathology-adapted immobilisation) need to be considered.Apart from simple slings, physicians can choose between two different types of braces: soft shoulder braces and rigid shoulder braces. Future studies should evaluate commercially available shoulder braces on their functionality and comfort as well as for potential problems related to different pathologies of the shoulder joint and its clinical outcome. 相似文献
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Dale S. DiSalvo Benjamin S. Oberman Joshua I. Warrick David Goldenberg 《Head and neck pathology》2016,10(2):188-191
Focal dermal hypoplasia (Goltz syndrome; GS) is an X-linked dominant disorder caused by a mutation in the porcupine homolog (PORCN) gene and is typically embryonically lethal for males. The presence of disease in males is usually the result of post-zygotic mutation, but may also be due to mosaicism. The presentation of this disorder is highly variable, but generally is characterized by cutaneous, skeletal, ocular, oral, dental, and aural defects. Cutaneous manifestations include foci of hypoplastic skin, abnormal pigmentation, and papillomatous growths. We present both the first case of a patient with GS related laryngeal obstruction due to papillary lymphoid hyperplasia in an adult, and the first case in a male patient. Clinical, histologic, and genetic features of the disease are discussed. Operative technique for management of the patient with pharyngeal lesions is detailed, and intraoperative photos are showcased. The challenge in airway evaluation and management is also highlighted as manifestations of GS are rarely encountered in the airway and can cause laryngeal obstruction. 相似文献
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