We report on a patient with a complex heart defect, short webbed neck, multiple other minor features, and a 46,XX,15p+ de novo karyotype. The enlarged short arm of the chromosome 15 was Distamycin-DAPI and C-band negative. Fluorescence in situ hybridization (FISH) using an alpha satellite probe from chromosome 15 demonstrated hybridization only to the normal 15. In situ hybridization using a set of probes that bind to the short arm (17p13) and centromere of chromosome 17 demonstrated that the extra material on chromosome 15, including the centromere, was derived from chromosome 17. Therefore, this patient has a duplication of the centromere and short arm of chromosome 17. Clinical manifestations in this patient were consistent with those in previously described patients with dup (17p).
Understanding the movement of animals is important for a wide range of scientific interests including migration, disease spread, collective movement behaviour and analysing motion in relation to dynamic changes of the environment such as wind and thermal lifts. Particularly, the three-dimensional (3D) spatial–temporal nature of bird movement data, which is widely available with high temporal and spatial resolution at large volumes, presents a natural option to explore the potential of immersive analytics (IA). We investigate the requirements and benefits of a wide range of immersive environments for explorative visualization and analytics of 3D movement data, in particular regarding design considerations for such 3D immersive environments, and present prototypes for IA solutions. Tailored to biologists studying bird movement data, the immersive solutions enable geo-locational time-series data to be investigated interactively, thus enabling experts to visually explore interesting angles of a flock and its behaviour in the context of the environment. The 3D virtual world presents the audience with engaging and interactive content, allowing users to ‘fly with the flock’, with the potential to ascertain an intuitive overview of often complex datasets, and to provide the opportunity thereby to formulate and at least qualitatively assess hypotheses. This work also contributes to ongoing research efforts to promote better understanding of bird migration and the associated environmental factors at the global scale, thereby providing a visual vehicle for driving public awareness of environmental issues and bird migration patterns.
The Tiled Stereoscopic 3D Display Wall (TS3DW) is a monitor system consisting of six consumer 3D TVs. Two monitors reside on a mobile display mount. One standard configuration is to use them in a 135-degree angle to each other, having one mobile mount in the center, and one at each side. In this way, the system can be transported to multiple locations across a campus as well as used in different application scenarios. This system was already used for a number of research projects and presentations. In this work, we present the concept, applications and evaluation of the implemented system. First, we will discuss the hardware setup, the passive circular polarization technology provided by the LG 3D TVs and its limitations. Then, two application cases making use of Stereoscopic 3D visualization will be discussed and compared to previous work: • Visualization and Analysis of Bird Trajectories, • Visualization and Analysis of Meteorite Data. Finally, we discuss a comprehensive evaluation of the system and its stereoscopic capabilities featuring 16 participants with different body heights. Three major questions were evaluated: • Is TS3DW an appropriate environment for group presentations? • If so, which aspects have to be taken into account during its configuration? • Does TS3DW show potential to be used in the context of static and/or dynamic bird visualization?
This report documents the case of a 64‐year‐old African‐American female with new end‐stage renal disease (ESRD), diagnosed with systemic lupus erythematosus (SLE) on renal biopsy and serologies including a positive ANA (>1:2560), positive anti‐Sm antibodies, low titer anti‐RNP antibodies, high titer anti‐Ro antibodies, anti‐dsDNA antibodies, lupus anticoagulant, and hypocomplementemia. She was also noted to have tender nodules on the bilateral shins. Excisional biopsy of one of the nodules showed marked fat necrosis with “ghost cells” and patchy basophilic granular debris consistent with pancreatic panniculitis. Further examination for pancreatic pathology showed an elevated lipase of 585 U/L (reference range 8‐78 U/L) and amylase of 214 U/L (reference range 25‐125 U/L). However, computed tomography imaging showed no evidence of pancreatitis or pancreatic tumors. This is very similar to another case recently reported in the literature. Similarities of these two cases (African‐American females with lupus nephritis on dialysis) may represent a particular subset of SLE patients at increased risk for pancreatic panniculitis.
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