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Of those with disease-causing variants, 5/17 only had an NSD diagnosis. CONCLUSIONS Adding NF1 and SPRED1 to RASopathy panels can speed diagnosis and improve patient management, without significantly increasing the burden of inconclusive results. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.BACKGROUND Early mobilization in critically ill patients has been documented to reduce neuromuscular complications, but access to rehabilitation services is often limited in the intensive care unit (ICU). Virtual platforms that deliver therapy may increase access to rehabilitation services and improve patient motivation to participate. Xbox Kinect Jintronix software delivers interventions using games and activities designed for therapy. OBJECTIVE Here we determine the feasibility of the Jintronix virtual therapy system in an ICU setting by observing outcomes related to patient satisfaction, adverse events, and technical applicability. DESIGN Prospective Observational Feasibility Study. SETTING Medical ICU at a Level 1 Trauma Center within an academic medical center. PARTICIPANTS 20 adults admitted to ICU. INTERVENTION Participants engaged in one therapy session with a maximum of 14 Jintronix modules targeting arm, leg, and/or trunk strength, range of motion and endurance. OUTCOME MEASURES A trained physician-observer recorded events related to adverse events and technical applicability. Participants completed a survey to determine patient satisfaction. RESULTS A total of 188 modules were completed. Subjects completed a median of 9 modules each. Five subjects completed the maximum of 14 modules. Fatigue was the most common reason for cessation. Mean intervention time was 29 min. There were no falls, lines dislodged, or medical events. Subjects required physical assistance or verbal cues in 36% of modules. Technical errors affected 25% of modules and led to activity cessation in 1 case. Nearly all subjects reported the activity was enjoyable, comfortable, safe, easy to understand, would improve range of motion and strength, and would motivate them to continue. CONCLUSIONS Use of a virtual therapy environment in an intensive care setting is feasible. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.Injectable shear-thinning biomaterials (iSTBs) have great potential for in situ tissue regeneration through minimally invasive therapeutics. Previously, an iSTB was developed by combining gelatin with synthetic silicate nanoplatelets (SNPs) for potential application to hemostasis and endovascular embolization. Hence, iSTBs are synthesized by varying compositions of gelatin and SNPs to navigate their material, mechanical, rheological, and bioactive properties. All compositions (each component percentage; 1.5-4.5%/total solid ranges; 3-9%) tested are injectable through both 5 Fr general catheter and 2.4 Fr microcatheter by manual pressure. In the results, an increase in gelatin contents causes decrease in swellability, increase in freeze-dried hydrogel scaffold porosity, increase in degradability and injection force during iSTB fabrication. Meanwhile, the amount of SNPs in composite hydrogels is mainly required to decrease degradability and increase shear thinning properties of iSTB. Finally, in vitro and in vivo biocompatibility tests show that the 1.5-4.5% range gelatin-SNP iSTBs are not toxic to the cells and animals. All results demonstrate that the iSTB can be modulated with specific properties for unmet clinical needs. Understanding of mechanical and biological consequences of the changing gelatin-SNP ratios through this study will shed light on the biomedical applications of iSTB on specific diseases. © 2020 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.OBJECTIVE To assess the burden of subclinical intra-articular inflammation using ultrasound in people with gout. Bromoenol lactone order METHODS A pilot, prospective longitudinal cohort of 28 participants with gout were examined twice, once during a gout flare (n = 25) and then during an inter-critical phase (n = 27). At each visit, a 52 joint count was done followed by ultrasound examination for detection of intra-articular power Doppler (PD) signal. Clinically active joints were defined as tender and swollen. Data was collected on patient reported gout pain - visual analog scale (VAS) (painVAS), physician global VAS (physicianVAS), Health Assessment Questionnaire (HAQ), serum uric acid, erythrocyte sedimentation rate (ESR), and high-sensitivity C-reactive protein (HsCRP). RESULTS At the flare visit, participants had a median of 1 clinically active joint (interquartile range [IQR] 1-2), and a median of 5 joints with a PD score ≥ 2 (IQR 4-10, P  less then  .001). At the inter-critical visit, participants reported an median of 0 clinically active joints (IQR 0-0), and a median of 4 joints with a PD score ≥ 2 (IQR 3-7, P  less then  .001). Physician VAS (5.69 vs 3.40, P  less then  .001), painVAS (6 vs 0, P  less then  .001), HAQ (0.75 vs 0.12, P = .032), and ESR (29 vs 13.5 mm/h, P = .02) were higher at the acute visit, but HsCRP levels were similar (8.88 vs 5.15 mg/L, P = .062). CONCLUSION This pilot study established the presence of subclinical intra-articular inflammation in gout at both acute and inter-critical phases. Despite the apparent resolution of symptoms after an acute flare, a relatively high proportion of joints had subclinical inflammation in the inter-critical visit. The long-term implications of untreated subclinical joint inflammation are not clear. © 2020 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.We report an in-situ polymerization strategy to incorporate a thermo-responsive polymer, poly(N-isopropylacrylamide) (PNIPAM), with controlled loadings into the cavity of a mesoporous metal-organic framework (MOF), viz. MIL-101(Cr). The resultant MOF/polymer composites exhibit an unprecedented temperature-triggered water capture and release behavior originating from the thermo-responsive phase transition of the PNIPAM component. This result sheds light on the development of stimuli-responsive porous adsorbent materials for water capture and heat transfer applications under relatively mild operating conditions. © 2020 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.