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https://www.readbyqxmd.com/read/29346770/integrative-analyses-of-de-novo-mutations-provide-deeper-biological-insights-into-autism-spectrum-disorder
#1
Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto
Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the "de novo paradigm" of ASDs across ethnicities. Based on this consistency, we combine the lists of damaging DNMs in our and published ASD cohorts (total number of trios, 4,244) and perform integrative bioinformatics analyses. Besides replicating the findings of previous studies, our analyses highlight ATP-binding genes and fetal cerebellar/striatal circuits...
January 16, 2018: Cell Reports
https://www.readbyqxmd.com/read/29346767/functional-principles-of-posterior-septal-inputs-to-the-medial-habenula
#2
Yo Otsu, Salvatore Lecca, Katarzyna Pietrajtis, Charly Vincent Rousseau, Païkan Marcaggi, Guillaume Pierre Dugué, Caroline Mailhes-Hamon, Manuel Mameli, Marco Alberto Diana
The medial habenula (MHb) is an epithalamic hub contributing to expression and extinction of aversive states by bridging forebrain areas and midbrain monoaminergic centers. Although contradictory information exists regarding their synaptic properties, the physiology of the excitatory inputs to the MHb from the posterior septum remains elusive. Here, combining optogenetics-based mapping with ex vivo and in vivo physiology, we examine the synaptic properties of posterior septal afferents to the MHb and how they influence behavior...
January 16, 2018: Cell Reports
https://www.readbyqxmd.com/read/29346759/nf-%C3%AE%C2%BAb-chromatin-interactions-drive-diverse-phenotypes-by-modulating-transcriptional-noise
#3
Victor C Wong, Victor L Bass, M Elise Bullock, Arvind K Chavali, Robin E C Lee, Walther Mothes, Suzanne Gaudet, Kathryn Miller-Jensen
Noisy gene expression generates diverse phenotypes, but little is known about mechanisms that modulate noise. Combining experiments and modeling, we studied how tumor necrosis factor (TNF) initiates noisy expression of latent HIV via the transcription factor nuclear factor κB (NF-κB) and how the HIV genomic integration site modulates noise to generate divergent (low-versus-high) phenotypes of viral activation. We show that TNF-induced transcriptional noise varies more than mean transcript number and that amplification of this noise explains low-versus-high viral activation...
January 16, 2018: Cell Reports
https://www.readbyqxmd.com/read/29346747/sensorimotor-integration-for-decision-making-how-the-worm-steers
#4
Harris S Kaplan, Manuel Zimmer
Animals' movements actively shape their perception and subsequent decision making. In this issue of Neuron, Liu et al. (2018) show how C. elegans nematodes steer toward an odorant: a dedicated interneuron class integrates oscillatory olfactory signals, generated by head swings, with corollary discharge motor signals.
January 17, 2018: Neuron
https://www.readbyqxmd.com/read/29346726/the-effect-of-dielectric-environment-on-doping-efficiency-in-colloidal-pbse-nanostructures
#5
Qinghua Zhao, Tianshuo Zhao, Jiacen Guo, Wenxiang Chen, Mingliang Zhang, Cherie R Kagan
Doping, as a central strategy to control free carrier type and concentration in semiconductor materials, suffers from low efficiency at the nanoscale, especially in systems having high permittivity (ϵ) and large Bohr radii, such as lead chalcogenide nanocrystals (NCs) and nanowires (NWs). Here, we study dielectric confinement effects on the doping efficiency of lead chalcogenides nanostructures by integrating PbSe NWs in the platform of field effect transistors (FETs). Elemental Pb or In or elemental Se is deposited by thermal evaporation to remotely n- or p-dope the NWs...
January 18, 2018: ACS Nano
https://www.readbyqxmd.com/read/29346713/spark-generated-microbubble-cell-sorter-for-microfluidic-flow-cytometry
#6
Jingjing Zhao, Zheng You
High-speed and accurate cell sorting is of great significance for cell analysis regarding both bioresearch and clinical application. Different from the jet-in-air sorting of commercial flow cytometers, sorting in fully enclosed and disposal microfluidic chips can avoid aerosols and crosscontamination, thus contributing to the improvement of biosafety and test accuracy. However, current microfluidic sorters usually require complicated structures, or otherwise cannot attain high throughput. In this article, a sorting mechanism for microfluidics is proposed for the first time based on the jet flow induced by the spark-generated cavitation microbubble that can be easily realized by a pair of electrodes...
January 18, 2018: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/29346708/role-of-comprehension-on-performance-at-higher-levels-of-bloom-s-taxonomy-findings-from-assessments-of-healthcare-professional-students
#7
Anne-Marie A Verenna, Kim A Noble, Helen E Pearson, Susan M Miller
The first four levels of Bloom's taxonomy were used to create quiz questions designed to assess student learning of the gross anatomy, histology, and physiology of the gastrointestinal (GI) system. Information on GI histology and physiology was presented to separate samples of medical, dental, and podiatry students in computer based tutorials where the information from the two disciplines was presented either separately or in an integrated fashion. All students were taught GI gross anatomy prior to this study by course faculty as part of the required curriculum of their respective program...
January 18, 2018: Anatomical Sciences Education
https://www.readbyqxmd.com/read/29346691/the-impact-of-near-peer-teaching-on-medical-students-transition-to-clerkships
#8
Alexander C Knobloch, Christy J W Ledford, Sean Wilkes, Adam K Saperstein
BACKGROUND AND OBJECTIVES: The transition to clerkships is one of the most challenging times during medical school. To help students better cope, many schools have established transition-to-clerkship curricula. Such curricula may optimally prepare students through increasing their self-efficacy and response efficacy. We hypothesized that a small-group, near-peer-led format would be ideally suited to help students achieve these outcomes. METHODS: During process improvement for a transition-to-clerkship curriculum, we conducted an informal focus group and subsequent survey of postclerkship students to guide curricular innovation, including incorporation of third- and fourth-year students as near-peer instructors in a seminar format...
January 2018: Family Medicine
https://www.readbyqxmd.com/read/29346674/integrating-research-techniques-to-improve-quality-and-safety-in-the-preanalytical-phase
#9
Adolfo Romero, Juan Gómez-Salgado, José Andrés Domínguez-Gómez, Carlos Ruiz-Frutos
Background: Reducing errors in the preanalytical phase is difficult, which suggests the issue may be multidimensional. As such, qualitative research may be truly innovative in this context. Method: We carried out a descriptive study using a qualitative method incorporating 4 focus groups. Data analysis followed the principles of Grounded Theory. Results: We queried in each of the 4 focus groups collectively to identify weaknesses in the system...
January 13, 2018: Laboratory Medicine
https://www.readbyqxmd.com/read/29346657/perspectives-on-queer-music-therapy-a-qualitative-analysis-of-music-therapists-reactions-to-radically-inclusive-practice
#10
Catherine E Boggan, Patrick R Grzanka, Candice L Bain
Background: The queer music therapy model was designed by Bain, Grzanka, and Crowe in 2016 as a novel therapeutic approach to affirm and empower LGBTQ+ identity through music. No data have been generated on how this model might actually be implemented, or the strengths and limitations of the model according to music therapy professionals. Objective: The purpose of this study was to build on Bain and colleagues' work by collecting music therapists' perspectives on queer music therapy and using these data to critically evaluate the model...
January 13, 2018: Journal of Music Therapy
https://www.readbyqxmd.com/read/29346643/genetic-characterization-of-a-vang-type-vancomycin-resistant-enterococcus-faecium-clinical-isolate
#11
Mohamed Sassi, François Guérin, Léonie Lesec, Christophe Isnard, Marguerite Fines-Guyon, Vincent Cattoir, Jean-Christophe Giard
Objectives: To characterize, phenotypically and genotypically, the first Enterococcus faecium clinical isolate harbouring a vanG operon. Methods: The antibiotic resistance profile of E. faecium 16-346 was determined and its whole genome sequenced using PacBio technology. Attempts to transfer vancomycin resistance by filter mating were performed and the inducibility of expression of the vanG operon was studied by reverse-transcription quantitative PCR (RT-qPCR) in the presence or absence of subinhibitory concentrations of vancomycin...
January 16, 2018: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/29346608/on-demand-intraoperative-3-dimensional-printing-of-custom-cranioplastic-prostheses
#12
Alexander I Evins, John Dutton, Sayem S Imam, Amal O Dadi, Tao Xu, Du Cheng, Philip E Stieg, Antonio Bernardo
BACKGROUND: Currently, implantation of patient-specific cranial prostheses requires reoperation after a period for design and formulation by a third-party manufacturer. Recently, 3-dimensional (3D) printing via fused deposition modeling has demonstrated increased ease of use, rapid production time, and significantly reduced costs, enabling expanded potential for surgical application. Three-dimensional printing may allow neurosurgeons to remove bone, perform a rapid intraoperative scan of the opening, and 3D print custom cranioplastic prostheses during the remainder of the procedure...
January 13, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29346567/epithelial-grafting-of-a-decellularized-whole-tracheal-segment-an-in-vivo-experimental-model
#13
Margot Den Hondt, Bart M Vanaudenaerde, Eric K Verbeken, Jan J Vranckx
OBJECTIVES: Prerequisites for successful trachea transplantation include the use of a biocompatible construct, submucosal vascularization and an epithelial covering. Implantation of non-epithelialized tracheal scaffolds may lead to stenosis. However, epithelial grafting or seeding can only be attempted onto a well-vascularized submucosal bed. Our aim was to investigate a method to prevent stenosis during prelamination of non-epithelialized, gently decellularized rabbit tracheae and to evaluate whether grafting of revascularized constructs with buccal mucosa is feasible...
January 15, 2018: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29346552/safety-profile-of-near-zero-fluoroscopy-atrial-fibrillation-ablation-with-non-fluoroscopic-catheter-visualization-experience-from-1000-consecutive-procedures
#14
Philipp Sommer, Livio Bertagnolli, Simon Kircher, Arash Arya, Andreas Bollmann, Sergio Richter, Sascha Rolf, Gerhard Hindricks
Aims: Efforts to reduce radiation exposure during catheter ablation procedures have included the use of various technological measures. Significant results have been achieved to the point where near lead-free procedures in routine clinical practice has become a realistic goal. The integration of MediGuide technology [non-fluoroscopic catheter visualization technology (NFCV)] and three-dimensional electroanatomical mapping is one of the methods developed in response to radiation reduction initiatives...
January 16, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29346551/brazil-s-family-health-strategy-factors-associated-with-programme-uptake-and-coverage-expansion-over-15-years-1998-2012
#15
Monica Viegas Andrade, Augusto Quaresma Coelho, Mauro Xavier Neto, Lucas Resende de Carvalho, Rifat Atun, Marcia C Castro
Universal Health Coverage (UHC) is one of the United Nations Sustainable Development Goals (SDGs). Achieving UHC will require strong health systems to promote and deliver equitable and integrated healthcare services through primary healthcare (PHC). In Brazil, the Family Health Strategy (FHS) delivers PHC through the public health system. Created in 1994, the FHS covered almost 123 million individuals (63% of the Brazilian population) by 2015. The FHS has been associated with many health improvements, but gaps in coverage still remain...
January 15, 2018: Health Policy and Planning
https://www.readbyqxmd.com/read/29346531/doppler-assessment-of-aortic-stenosis-a-25-operator-study-demonstrating-why-reading-the-peak-velocity-is-superior-to-velocity-time-integral
#16
Stefania Sacchi, Niti M Dhutia, Matthew J Shun-Shin, Massoud Zolgharni, Nilesh Sutaria, Darrel P Francis, Graham D Cole
Aims: Measurements with superior reproducibility are useful clinically and research purposes. Previous reproducibility studies of Doppler assessment of aortic stenosis (AS) have compared only a pair of observers and have not explored the mechanism by which disagreement between operators occurs. Using custom-designed software which stored operators' traces, we investigated the reproducibility of peak and velocity time integral (VTI) measurements across a much larger group of operators and explored the mechanisms by which disagreement arose...
January 15, 2018: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/29346510/viper-a-web-application-for-rapid-expert-review-of-variant-calls
#17
Marius Wöste, Martin Dugas
Summary: With the rapid development in next-generation sequencing, cost and time requirements for genomic sequencing are decreasing, enabling applications in many areas such as cancer research. Many tools have been developed to analyze genomic variation ranging from single nucleotide variants to whole chromosomal aberrations. As sequencing throughput increases, the number of variants called by such tools also grows. Often employed manual inspection of such calls is thus becoming a time-consuming procedure...
January 15, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29346496/melanopsin-system-dysfunction-in-smith-magenis-syndrome-patients
#18
Mirella Telles Salgueiro Barboni, Clarissa Bueno, Balázs Vince Nagy, Patrícia Lobo Maia, Kallene Summer Moreira Vidal, Rosana Cardoso Alves, Russel J Reiter, Fernanda Gaspar do Amaral, José Cipolla-Neto, Dora Fix Ventura
Purpose: Smith-Magenis syndrome (SMS) causes sleep disturbance that is related to an abnormal melatonin profile. It is not clear how the genomic disorder leads to a disturbed synchronization of the sleep/wake rhythm in SMS patients. To evaluate the integrity of the intrinsically photosensitive retinal ganglion cell (ipRGC)/melanopsin system, the transducers of the light-inhibitory effect on pineal melatonin synthesis, we recorded pupillary light responses (PLR) in SMS patients. Methods: Subjects were SMS patients (n = 5), with molecular diagnosis and melatonin levels measured for 24 hours and healthy controls (n = 4)...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29346445/transcriptome-analysis-of-skin-fibroblasts-with-dominant-negative-col3a1-mutations-provides-molecular-insights-into-the-etiopathology-of-vascular-ehlers-danlos-syndrome
#19
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi
Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain that through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures...
2018: PloS One
https://www.readbyqxmd.com/read/29346416/decoding-the-network-of-trypanosoma-brucei-proteins-that-determines-sensitivity-to-apolipoprotein-l1
#20
Rachel B Currier, Anneli Cooper, Hollie Burrell-Saward, Annette MacLeod, Sam Alsford
In contrast to Trypanosoma brucei gambiense and T. b. rhodesiense (the causative agents of human African trypanosomiasis), T. b. brucei is lysed by apolipoprotein-L1 (apoL1)-containing human serum trypanolytic factors (TLF), rendering it non-infectious to humans. While the mechanisms of TLF1 uptake, apoL1 membrane integration, and T. b. gambiense and T. b. rhodesiense apoL1-resistance have been extensively characterised, our understanding of the range of factors that drive apoL1 action in T. b. brucei is limited...
January 18, 2018: PLoS Pathogens
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