Setleis syndrome: Clinical, molecular and structural studies of the first TWIST2 missense mutation.
Setleis syndrome: Clinical, molecular and structural studies of the first TWIST2 missense mutation. Clin Genet. 2014 Nov 19; Authors: Rosti RO, Uyguner ZO, Nazarenko I, Bekerecioglu M, Cadilla CL, Ozgur H, Lee BH, Aggarwal AK, Pehlivan S, Desnick RJ Abstract Setleis syndrome is characterized by bitemporal scar-like lesions and other characteristic facial features. It results from recessive mutations that truncate critical functional domains in the basic helix-loop-helix (bHLH) transcription factor, TWIST2, which regulates expression of genes for facial development. To date, only four nonsense or small deletion mutations have been reported. In the current report, the clinical findings in a consanguineous Turkish family were characterized. Three affected siblings had the characteristic features of Setleis syndrome. Homozygosity for the first TWIST2 missense mutation, c.326T>C (p.Leu109Pro), was identified in the patients. In silico analyses predicted that the secondary structure of the mutant protein was sustained, but the empirical force field energy increased to an unfavorable level with the proline substitution (p.Leu109Pro). On a crystallographically generated dimer, p.Leu109 lies near the dimer interface, and the proline substitution is predicted to hinder dimer formation. Therefore, p.Leu109Pro-TWIST2 alters the three dimensional structure and is unable to dimerize, thereby hindering the binding of TWIST2 to its target genes involved in facial dev...
New plans filed with the city sketch out more details for a proposed California Northstate University teaching hospital and campus — and suggest the project is a matter of months away from beginning construction.
Phys. Chem. Chem. Phys., 2021, Accepted Manuscript DOI: 10.1039/D1CP02793J, PaperFang Jia Wu, Shasha Ke, Yong Guo, Huaiwu Zhang, HF Lu Ideal topological materials are those stable materials with fewer nontrivial band cross near Fermi surface and long Fermi arc. By means of first-principles calculations, here we present that 3D monochalcogenides... The content of this RSS Feed (c) The Royal Society of Chemistry
This article is licensed under aCreative Commons Attribution-NonCommercial 3.0 Unported Licence.Petra Juskova, Steven Schmitt, Lucas Armbrecht, Petra S Dittrich Microbial cells represent a standard production host for various important biotechnological products. Production yields can be increased by optimising strains, growth conditions and understanding deviations in production rates over time... The content of this RSS Feed (c) The Royal Society of Chemistry
This article provides a timely and critical review on carbon-based metal-free catalysts for various electrocatalytic reactions, along with the mechanistic and structure –property relationship understanding, current challenges, and future perspectives. To cite this article before page numbers are assigned, use the DOI form of citation above. The content of this RSS Feed (c) The Royal Society of Chemistry
Dalton Trans., 2021, Accepted Manuscript DOI: 10.1039/D1DT02591K, PaperAndreas Schnepf, Claudio Schrenk, Roman Kimmich The reaction of a metastable SnCl solution with KR (R = Si(SiMe3)2(SitBuMe2) = HyptBuMe2 or Si(SiMe3)2(SiEt3) = HypEt3) gives the metalloid tin clusters [Sn10R4]2 − in partly good yields. The tin... The content of this RSS Feed (c) The Royal Society of Chemistry
Conclusion: Certain components of online reviews are significantly correlated with ICH-CAHPS measures of patient experience. Additionally, online reviews come with narrative comments that can offer specific insights into positive and negative aspects of patient care that cannot always be elucidated by numeric survey questions. Online reviews may have utility as an adjunctive source of information to patient experience surveys such as the ICH-CAHPS.
Conclusion: Identifying hospitals that are consistently performing poorly and hospitals consistently performing well will allow administrators and clinicians to focus their efforts including budgetary to where improvements are needed. Patient care and the reduction of HAIs are a priority for health care institutions. While the results are similar to those reported by NYS, this approach can be used more comprehensively and can be interpreted more easily by administrators and practitioners. Health care administrators and clinicians may find the information useful to address infection rates. Hospitals consistently perform...
Conclusions: Our findings question the validity of using NIS and other administrative databases for health services and outcomes research that rely on certain diagnostic procedures. Unfortunately, the NIS does not provide granular data that can control for differences in diagnostic procedure use, which can lead to surveillance bias. Researchers and policy makers must understand and acknowledge the limitations inherent in these databases, when used for pay-for-performance initiatives and hospital benchmarking.
This study aimed to explore the effects of text enhancement on reduction of confusion caused by look-alike drug names through systematic review and meta-analysis. Methods: We searched 5 databases (from database inception to January 2020) for empirical studies that examined the effects of text enhancement on reduction of look-alike drug name–induced drug name confusion. The pooled outcome data were analyzed using either meta-analysis or a narrative synthesis approach. Results: From the 351 identified articles, 11 articles representing 20 individual trials were included. Five basic text enhancement method...
Conclusions: The findings suggest that the ANN model is a promising approach for predicting CHD risk and a good screening procedure to identify high-risk subjects.