نتایج جستجو برای: shwachman
تعداد نتایج: 1492 فیلتر نتایج به سال:
Shwachman-Diamond syndrome (SDS) is a rare hereditary disorder characterized by pancreatic exocrine insufficiency, bone marrow dysfunction and skeletal changes. Recently, the cause of SDS was identified as mutations of Shwachman-Bodian-Diamond syndrome gene (SBDS) and most mutations are caused by gene conversion between SBDS and its highly homologous pseudogene. Clinical variations especially i...
BACKGROUND Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition. Available single disease registries provide reliable information regarding natural history, efficacy and side effects of treatments, and contribute to the discovery of the causative genes. However, these registries could not shed li...
9 Conclusions: This study expanded the phenotypic features of SDS to include primary low-turnover osteoporosis and structural alterations in the brain. Pancreatic MRI showed characteristic changes in the SBDS mutation-positive patients while these were absent in the mutation-negative patients, suggesting that MRI can be used to differentiate patients harboring SBDS mutations from those without ...
Conventional metrics in evaluating task-oriented Spoken Dialogue Systems (SDSs) are objective metrics such as the mean number of turns, or the estimated success rate. We provide further empirical evidence that these metrics are unreliable to distinguish across SDS: they fail to distinguish changes in the system, and detect differences where there are none. For instance, we report that the mean ...
We have developed a list of 281 competencies deemed to be of importance in the training of orthopaedic surgeons. A stratified, randomised selection of non-university orthopaedic surgeons rated each individual item on a scale 1 to 4 of increasing importance. Summary statistics across all respondents were given. The mean scores and sds were computed. Secondary analyses were computed in general or...
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