Citations

Here we present the case of a 90-year-old man with chronic heart and renal failure who was admitted with what appeared to be a simple heart failure exacerbation. However, further investigation led to the diagnosis of profound amiodarone-induced hypothyroidism as the cause of his acute decompensation, highlighting the importance of a broad differential diagnosis and thorough investigation.

Described for the first time in 1971, Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessive multisystem disorder that is caused by bi-allelic mutations of SMARCAL1, which encodes a DNA annealing helicase. To define better the dental anomalies of SIOD, we reviewed the records from SIOD patients with identified bi-allelic SMARCAL1 mutations, and we found that 66.0% had microdontia, hypodontia, or malformed deciduous and permanent molars. Immunohistochemical analyses showed expression of SMARCAL1 in all developing teeth, raising the possibility that the malformations are cell-autonomous consequences of SMARCAL1 deficiency. We also found that stimulation of cultured skin fibroblasts from SIOD patients with the tooth morphogens WNT3A, BMP4, and TGFβ1 identified altered transcriptional responses, raising the hypothesis that the dental malformations arise in part from altered responses to developmental morphogens. To the best of our knowledge, this is the first systematic study of the dental anomalies associated with SIOD.

We present a patient with a relatively rare condition: Charcot joint of the shoulder, with a rare complication, the first known example of combined neurovascular compression in this location. A 49‐year‐old man presented with neuropathic arthropathy of the shoulder caused by syringomyelia from a Chiari I malformation, leading to compression of both the brachial plexus and the axillary vein by mass effect from the synovitis. The brachial plexopathy resolved with surgical decompression and synovectomy, and the syringomyelia stabilized after Chiari decompression. A large acromioclavicular joint synovial cyst developed as a late complication, which was treated nonoperatively. Understanding neuropathic arthropathy can explain the spectrum of interrelated typical and atypical features in this case over long‐term follow‐up. Clin. Anat. 26:1017–1023, 2013. © 2012 Wiley Periodicals, Inc.

Oncolytic reovirus is carried by cells to tumors and protected from neutralizing antibodies in the circulation.

Background. Physical activity is important for multiple aspects of health, for example, cancer prevention, metabolic disease treatment, cardiovascular health, and obesity management. Despite the improved capability of measuring physical activity in the research arena, the options are scarce and less reliable for measurements in free-living people. In this article, the authors tested the validity of a robust stand-alone patient-operated Accelerometer System that can measure physical activity and sedentariness in active people. Methods. Thirty subjects wore the Accelerometer System along with the validated physical activity monitoring system (PAMS) with different body postures and during graded walking at 7 velocities. Energy expenditure was measured using indirect calorimetry. Results. In all the 30 subjects, the Accelerometer System distinguished sedentary and walking activity reliably even with ½ mph increments in walking and was accurate and precise compared with PAMS, with an intraclass correlation coefficient ( r2 > .98). The Accelerometer System showed excellent sequential increases with increase in walking velocity and energy expenditure ( r2 > .9). Conclusion. A stand-alone Accelerometer System was accurate and reliable in measuring and quantifying physical activity in the laboratory setting.