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To determine the phenotype and natural history of a founder genetic subtype of autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) caused by a p.S358L mutation in TMEM43. The age of onset of cardiac symptoms, clinical events and test abnormalities were studied in 412 subjects (258 affected and 154 unaffected), all of which occurred in affected males significantly earlier and more often than unaffected males. Affected males were hospitalized four times more often than affected females (p ≤ 0.0001) and died younger (p ≤ 0.001). The temporal sequence from symptoms onset to death was prolonged in affected females by 1–2 decades. The most prevalent electrocardiogram (ECG) manifestation was poor R wave progression (PRWP), with affected males twice as likely to develop PRWP as affected females (p ≤ 0.05). Left ventricular enlargement (LVE) occurred in 43% of affected subjects, with 11% fulfilling criteria for dilated cardiomyopathy. Ventricular ectopy on Holter monitor was common and occurred early: the most diagnostically useful clinical test. No symptom or test could rule out diagnosis. This ARVC subtype is a sex‐influenced lethal arrhythmogenic cardiomyopathy, with a unique ECG finding, LV dilatation, heart failure and early death, where molecular pre‐symptomatic diagnosis has the greatest clinical utility.  相似文献   
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We examined indices of children's parasympathetic nervous system activity (PNS), including respiratory sinus arrhythmia during baseline (RSAB) and RSA reactivity (RSAR), to a laboratory challenge, and importantly the interaction between RSAB and RSAR as predictors of multiple parameters of children's sleep. Lower RSAR denotes increased vagal withdrawal (reductions in RSA between baseline and task) and higher RSAR represents decreased vagal withdrawal or augmentation (increases in RSA between baseline and task). A community sample of school‐attending children (121 boys and 103 girls) participated [mean age = 10.41 years; standard deviation (SD) = 0.67]. Children's sleep parameters were examined through actigraphy for 7 consecutive nights. Findings demonstrate that RSAB and RSAR interact to predict multiple sleep quality parameters (activity, minutes awake after sleep onset and long wake episodes). The overall pattern of effects illustrates that children who exhibit more disrupted sleep (increased activity, more minutes awake after sleep onset and more frequent long wake episodes) are those with lower RSAB in conjunction with lower RSAR. This combination of low RSAB and low RSAR probably reflects increased autonomic nervous system arousal, which interferes with sleep. Results illustrate the importance of individual differences in physiological regulation indexed by interactions between PNS baseline activity and PNS reactivity for a better understanding of children's sleep quality.  相似文献   
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ObjectiveTo understand social media growth in both diagnostic and interventional radiology compared to other related specialties by quantifying and comparing hashtag utilization at annual medical conferences.MethodsOfficial annual conference hashtags for Society of Interventional Radiology (SIR), American College of Radiology (ACR), Radiological Society of North America, American College of Cardiology, American Heart Association, and American Society of Clinical Oncology were analyzed from 2015 to 2019, along with the IR hashtag #IRad. Twitter analytics were obtained with the use of Symplur Signals, a healthcare social media analytics platform. Linear regression analysis was performed on the number of tweets and users for each hashtag.ResultsFor annual ACR meetings, the number of tweets/user (6.96 in 2019), retweets/user (4.39 in 2019), and impressions/user (40,051 in 2019) were among the highest of all the specialties studied. This trend was observed despite a smaller number of users among ACR than most other conferences. SIR tweets increased significantly at a rate of 1032.8 tweets/year (P = 0.008) while users also significantly grew at a rate of 212.5 users/years (P = 0.007). #IRad tweets are also growing at a rate of 13,234.8 tweets/year (P = 0.026) while #IRad users are growing at a rate of 1309.5 users/year (P = 0.003). Radiological Society of North America users were significantly decreasing at ?1207.1 users/year (P = 0.018).ConclusionACR consistently had one of the highest counts of tweets/user, retweets/user, and impressions/user compared to the other studied specialties, suggesting that ACR's Twitter users are more active than users outside of the field of radiology. SIR was the only studied specialty conference that had statistically significant increases in the number of tweets and users.  相似文献   
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Photoacoustic imaging (PAI) is a novel hybrid imaging technique that combines the advantages of optical and ultrasound imaging to produce hyperspectral images of the tissue. The feasibility of measuring oxygen saturation (sO2) with PAI has been demonstrated pre-clinically, but has limited use in humans under conditions of ischemia and reperfusion. As an important step towards making PAI clinically available, we present a study in which PAI was used to estimate the spatial distribution of sO2 in vivo during and after occlusion of the finger of eight healthy volunteers. The results were compared with a commercial oxygen saturation monitor based on diffuse reflectance spectroscopy. We here describe the capability of PAI to provide spatially resolved picture of the evolution of sO2 during ischemia following vascular occlusion of a finger, demonstrating the clinical viability of PAI as a non-invasive diagnostic tool for diseases indicated by impaired microvascularization.  相似文献   
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Background:Many pediatric forearm fractures can be treated in plaster following closed reduction. The cast index (CI, a ratio of anteroposterior to lateral internal diameters of the cast at the fracture site) is a simple, reliable marker of quality of molding and a CI of >0.8 correlates with increased risk of redisplacement. Previously, CI has been applied to all forearm fractures. We hypothesize that an acceptable CI is more difficult to achieve and does not predict outcome in fractures of the proximal forearm.Results:The mean CI was 0.77. Remanipulation was required in five cases (6%), all distal half fractures – mean CI 0.79. CI was higher in proximal half forearm fractures (0.83 vs. 0.76, P = 0.006), nonetheless these fractures did not re-displace more than distal fractures.Conclusion:Cast index is useful in predicting redisplacement of manipulated distal forearm fractures. We found that in proximal half forearm fractures it is difficult to achieve a CI of <0.8, but increased CI does not predict loss of position in these fractures. We therefore discourage the use of CI in proximal half forearm fractures.  相似文献   
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