نتایج جستجو برای: diamond syndrome
تعداد نتایج: 641805 فیلتر نتایج به سال:
Two types of micron-diamond films were prepared on YG6 substrate by hot filament chemical vapor deposition(HFCVD) method. Morphology and orientation of crystalline growth were evaluated by SEM and XRD. Diamond film coated tools and sapphire wafer’ surface before and after lapping experiment were contrasted. The results indicated that a significant change in Raman spectrum of two types of micro...
In recent years a number of human diseases associated with dysregulated ribosome biogenesis have been identified and categorized as “ribosomopathies” [1]. Acquired or congenital genetic lesions leading to impaired ribosome biogenesis and function appear to be germane to this class of disorders that include Diamond-Blackfan anemia (DBA), a disorder characterized by pure red cell aplasia, Shwachm...
BACKGROUND The inherited bone marrow failure syndromes (IBMFSs) are diverse disorders with syndrome-specific features; their otologic and audiologic manifestations have not been well described. Our objective was to characterize these in patients with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS), and to determine the associ...
This paper reviews existing studies and investigates thermal operational regimes of diamond bit during drilling operations. The operating temperature of the diamond core drill is studied under bench condition and an optimal thermal range are presented. Based on this study, it was noted that glazing of diamond tools is observed at temperatures less than 327°C, and normal wear of diamond tools is...
Shwachman-Diamond syndrome (SDS) is a rare, inherited, autosomal recessive disease characterized by exocrine pancreatic dysfunction, skeletal problems and varying degrees of cytopenias resulting in bone marrow dysfunction. We report the first case of SDS that was difficult to distinguish from celiac disease because this is a valuable example of the variety in SDS presentation.
This case underscores the difficulty in diagnosis of bone marrow failure disorders, as the presentation of disease can be inconsistent, complicated by complex and ever-expanding genetic etiologies. A patient who presents with bone marrow failure and pancreatic insufficiency raises the question of Shwachman-Diamond syndrome (SDS) or a new condition which resembles SDS.
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