Familial cold autoinflammatory syndrome with rheumatoid arthritis.

Familial cold autoinflammatory syndrome (FCAS) is a cryopyrin-associated periodic syndrome that presents with episodic fever, skin rash, and joint pain after exposure to cold temperatures. Although the diagnosis is often singular, there are several instances of concurrent underlying autoimmune pathologies with either rheumatoid arthritis (RA) or amyloidosis. Because symptoms of the two entities overlap, it can be difficult to address a potential dual diagnosis of FCAS and an autoimmune disorder. We found seven previously reported cases of FCAS and amyloidosis and five cases of FCAS and RA and present another case of an FCAS-RA dual diagnosis.

Actomyosin contraction during cellularization is regulated in part by Src64 control of Actin 5C protein levels.

Src64 is required for actomyosin contraction during cellularization of the Drosophila embryonic blastoderm. The mechanism of actomyosin ring constriction is poorly understood even though a number of cytoskeletal regulators have been implicated in the assembly, organization, and contraction of these microfilament rings. How these cytoskeletal processes are regulated during development is even less well understood. To investigate the role of Src64 as an upstream regulator of actomyosin contraction, we conducted a proteomics screen to identify proteins whose expression levels are controlled by src64. Global levels of actin are reduced in src64 mutant embryos. Furthermore, we show that reduction of the actin isoform Actin 5C causes defects in actomyosin contraction during cellularization similar to those caused by src64 mutation, indicating that a relatively high level of Actin 5C is required for normal actomyosin contraction and furrow canal structure. However, reduction of Actin 5C levels only slows down actomyosin ring constriction rather than preventing it, suggesting that src64 acts not only to modulate actin levels, but also to regulate the actomyosin cytoskeleton by other means.

Gait Characteristics in Patients With Chronic Obstructive Pulmonary Disease.

BACKGROUND: Patients with chronic obstructive pulmonary disease (COPD) have reduced gait speeds and more frequent falls. We analyzed gait characteristics and fall risk in these patients using video recordings and questionnaires to determine if these patients had any quantitative changes in gait characteristics and to determine if screening for fall risk provided useful information. METHODS: Patients with COPD who had participated in pulmonary rehabilitation completed a short history falls and the Activities-Specific Balance Confidence Scale questionnaire. They performed the Get Up and Go Test. Their typical gait was video recorded and analyzed with Dartfish software. RESULTS: Fourteen patients completed this study. The mean age was 69.7 ± 6.0 years, and the mean forced expiratory volume in 1 second was 1.01 ± 0.38 L (36.9% ± 15.6% predicted). Three patients had a history of falls without significant injury. The mean Activities-Specific Balance Confidence Scale score was 91.8 ± 14.9, but the scores ranged from 10 to 100. Patients reported decreased balance confidence when "stepping onto or off an escalator while holding onto parcels." The mean time in the Get Up and Go Test was 11.9 ± 2.0 seconds. Spatiotemporal parameters of gait included mean step length 0.65 ± 0.6 m, mean double support time 0.36 ± 0.05 seconds, mean double support time ratio 30.4% ± 3.1%, average free walking speed 65.3 ± 6.9 m/min, and number of steps per minute 100.4 ± 8.8. The speed was significantly slower and the double support time was significantly longer when compared with normal values. CONCLUSIONS: Most patients had good balance confidence scores. Their gait and balance were qualitatively normal using the Tinetti tools for assessment. Therefore, their risk for falls seems low. They had a reduced step length and increased time spent in double support, changes which might represent subtle adaptations to reduced balance.

Indications and appropriateness of inferior vena cava filter placement.

BACKGROUND: Several professional societies have published guidelines for the placement of inferior vena cava (IVC) filters. The authors wanted to determine how frequently patients in their hospital had IVC filters placed based on current indications and to compare guidelines published by the American College of Chest Physicians (ACCP) and the Society of Interventional Radiologists (SIR). METHODS: The authors performed a structured review of the medical records of 180 patients identified by International Classification of Diseases, Ninth Revision, codes who had IVC filter placement at their hospital between July 1, 2007, and June 30, 2012. Indications for placement were based on current recommendations from the ACCP and SIR. RESULTS: These patients had a mean age of 62.4 ± 15.7 years and included 96 men and 84 women. One hundred forty patients had a history of deep venous thrombosis, pulmonary emboli or both. One hundred seven patients had permanent filters inserted, 34 had retrievable filters inserted and 39 had an unknown type of filter inserted. Forty-one patients (22.7%) had no definite indication for IVC filter insertion based on SIR guidelines, and 72 (40%) had no definite indication based on ACCP guidelines. There was a good agreement between the ACCP guidelines and the SIR guidelines when indications were categorized. Only one retrievable filter was removed. CONCLUSIONS: Twenty to forty percent of the patients with IVC filter insertions in their hospital had no definite indication documented in the medical record. A performance improvement activity to evaluate the use of IVC filters, such as a dedicated clinic, may be useful.