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https://www.readbyqxmd.com/read/28431466/next-generation-sequencing-reveals-one-novel-missense-mutation-in-col1a2-gene-in-an-iranian-family-with-osteogenesis-imperfecta
#1
Farah Talebi, Farideh Ghanbari Mardasi, Mohammadi Asl Javad, Bavarsad Amir Hooshang, Salehi Kambo Masoumeh
BAckground: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by next-generation sequencing (NGS) gene panel and Sanger sequencing. Results: Five different variants were identified in COL1A1 and COL1A2, including two variants in COL1A1 and three variants in COL1A2...
April 22, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28431419/creation-and-validation-of-an-automated-algorithm-to-determine-postoperative-ventilator-requirements-after-cardiac-surgery
#2
Eilon Gabel, Ira S Hofer, Nancy Satou, Tristan Grogan, Richard Shemin, Aman Mahajan, Maxime Cannesson
BACKGROUND: In medical practice today, clinical data registries have become a powerful tool for measuring and driving quality improvement, especially among multicenter projects. Registries face the known problem of trying to create dependable and clear metrics from electronic medical records data, which are typically scattered and often based on unreliable data sources. The Society for Thoracic Surgery (STS) is one such example, and it supports manually collected data by trained clinical staff in an effort to obtain the highest-fidelity data possible...
May 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28431245/host-microbe-co-metabolism-dictates-cancer-drug-efficacy-in-c-%C3%A2-elegans
#3
Timothy A Scott, Leonor M Quintaneiro, Povilas Norvaisas, Prudence P Lui, Matthew P Wilson, Kit-Yi Leung, Lucia Herrera-Dominguez, Sonia Sudiwala, Alberto Pessia, Peter T Clayton, Kevin Bryson, Vidya Velagapudi, Philippa B Mills, Athanasios Typas, Nicholas D E Greene, Filipe Cabreiro
Fluoropyrimidines are the first-line treatment for colorectal cancer, but their efficacy is highly variable between patients. We queried whether gut microbes, a known source of inter-individual variability, impacted drug efficacy. Combining two tractable genetic models, the bacterium E. coli and the nematode C. elegans, we performed three-way high-throughput screens that unraveled the complexity underlying host-microbe-drug interactions. We report that microbes can bolster or suppress the effects of fluoropyrimidines through metabolic drug interconversion involving bacterial vitamin B6, B9, and ribonucleotide metabolism...
April 20, 2017: Cell
https://www.readbyqxmd.com/read/28431244/bacterial-metabolism-affects-the-c-%C3%A2-elegans-response-to-cancer-chemotherapeutics
#4
Aurian P García-González, Ashlyn D Ritter, Shaleen Shrestha, Erik C Andersen, L Safak Yilmaz, Albertha J M Walhout
The human microbiota greatly affects physiology and disease; however, the contribution of bacteria to the response to chemotherapeutic drugs remains poorly understood. Caenorhabditis elegans and its bacterial diet provide a powerful system to study host-bacteria interactions. Here, we use this system to study how bacteria affect the C. elegans response to chemotherapeutics. We find that different bacterial species can increase the response to one drug yet decrease the effect of another. We perform genetic screens in two bacterial species using three chemotherapeutic drugs: 5-fluorouracil (5-FU), 5-fluoro-2'-deoxyuridine (FUDR), and camptothecin (CPT)...
April 20, 2017: Cell
https://www.readbyqxmd.com/read/28431229/functional-enhancer-screening-in-single-cells
#5
Joris van Arensbergen, Bas van Steensel
In this issue of Molecular Cell, Xie et al. (2017) introduce Mosaic-seq, a powerful technology that combines CRISPRi and single-cell RNA-seq. This method enables the high-throughput assessment of contributions of enhancers to gene regulation.
April 20, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28431202/pharmacological-interventions-for-acute-pancreatitis
#6
REVIEW
Elisabetta Moggia, Rahul Koti, Ajay P Belgaumkar, Federico Fazio, Stephen P Pereira, Brian R Davidson, Kurinchi Selvan Gurusamy
BACKGROUND: In people with acute pancreatitis, it is unclear what the role should be for medical treatment as an addition to supportive care such as fluid and electrolyte balance and organ support in people with organ failure. OBJECTIVES: To assess the effects of different pharmacological interventions in people with acute pancreatitis. SEARCH METHODS: We searched the Cochrane Central Register of Controlled Trials (CENTRAL, 2016, Issue 9), MEDLINE, Embase, Science Citation Index Expanded, and trial registers to October 2016 to identify randomised controlled trials (RCTs)...
April 21, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28431190/higher-levels-of-submissive-behaviors-at-the-onset-of-the-pairing-process-of-rhesus-macaques-macaca-mulatta-are-associated-with-lower-risk-of-wounding-following-introduction
#7
Ori Pomerantz, Kate C Baker
Social housing of rhesus macaques (Macaca mulatta) is considered to be the cornerstone of behavioral management programs in biomedical facilities. However, it also involves the risk of socially inflicted trauma. The ability to avoid such trauma would contribute to the animals' well-being and alleviate staff's concerns, thus paving the path for more introductions. Here, we sought to address the conflict between the need to socially house rhesus macaques and the need to bring social wounding to a minimum by identifying behaviors expressed early in social introductions, that may serve as predictors of later wounding events...
April 21, 2017: American Journal of Primatology
https://www.readbyqxmd.com/read/28431182/joint-positions-matter-for-ultrasound-examination-of-ra-patients-increased-power-doppler-signal-in-neutral-versus-flat-position-of-hands
#8
Rusmir Husic, Angelika Lackner, Martin H Stradner, Josef Hermann, Christian Dejaco
Objective.: Position of joints might influence the result of US examination in patients with RA. The purpose of this work was to compare grey-scale (GS) and power Doppler (PWD) findings obtained in neutral vs flat position of hands. Methods.: A cross-sectional study of 42 RA patients with active disease. Two dimensional and 3D sonography of wrists and MCP joints were conducted in two different joint positions: neutral position, which is a slight flexion of the fingers with relaxed extensor muscles; and flat position, where all palm and volar sides of fingers touch the Table...
April 18, 2017: Rheumatology
https://www.readbyqxmd.com/read/28431169/spa-ln-a-scoring-function-of-ligand-nucleic-acid-interactions-via-optimizing-both-specificity-and-affinity
#9
Zhiqiang Yan, Jin Wang
Nucleic acids have been widely recognized as potential targets in drug discovery and aptamer selection. Quantifying the interactions between small molecules and nucleic acids is critical to discover lead compounds and design novel aptamers. Scoring function is normally employed to quantify the interactions in structure-based virtual screening. However, the predictive power of nucleic acid-ligand scoring functions is still a challenge compared to other types of biomolecular recognition. With the rapid growth of experimentally determined nucleic acid-ligand complex structures, in this work, we develop a knowledge-based scoring function of nucleic acid-ligand interactions, namely SPA-LN...
April 20, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28431141/grade-and-location-of-power-doppler-are-predictive-of-damage-progression-in-rheumatoid-arthritis-patients-in-clinical-remission-by-anti-tumour-necrosis-factor-%C3%AE
#10
Bernd Raffeiner, Enrico Grisan, Costantino Botsios, Roberto Stramare, Gaia Rizzo, Livio Bernardi, Leonardo Punzi, Francesca Ometto, Andrea Doria
Objectives.: To investigate power Doppler (PD) signal, grade and location and their association with radiographic progression in RA patients in remission. Methods: . A prospective observational study was conducted in 125 consecutive RA patients in stable 28-joint DAS (DAS28) remission (⩾6 months) achieved on anti-TNF-α. At baseline, patients in stable remission underwent radiographic and US examination of the wrists and MCP, PIP and MTP joints. Semi-quantitative PD scoring (0-3) was recorded...
April 20, 2017: Rheumatology
https://www.readbyqxmd.com/read/28431121/starbeast2-brings-faster-species-tree-inference-and-accurate-estimates-of-substitution-rates
#11
Huw A Ogilvie, Remco R Bouckaert, Alexei J Drummond
Fully Bayesian multispecies coalescent (MSC) methods like *BEAST estimate species trees from multiple sequence alignments. Today thousands of genes can be sequenced for a given study, but using that many genes with *BEAST is intractably slow. An alternative is to use heuristic methods which compromise accuracy or completeness in return for speed. A common heuristic is concatenation, which assumes that the evolutionary history of each gene tree is identical to the species tree. This is an inconsistent estimator of species tree topology, a worse estimator of divergence times, and induces spurious substitution rate variation when incomplete lineage sorting is present...
April 14, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28430957/cd25-expression-in-b-lymphoblastic-leukemia-lymphoma-predicts-t-9-22-q34-q11-philadelphia-chromosome-translocation-ph-and-is-associated-with-residual-disease-in-ph-negative-patients
#12
Pu Chen, Andrew Chu, Hamid Zia, Prasad Koduru, Robert Collins, Naomi Winick, Franklin Fuda, Weina Chen
Objectives: CD25 expression is associated with t(9;22)(q34;q11)/Philadelphia chromosome translocation (Ph); BCR-ABL1 rearrangement in B lymphoblastic leukemia/lymphoma (B-LL). However, the significance of CD25 expression in Ph negative (Ph-) B-LL regarding residual disease (RD) and genetic abnormalities is largely unknown. Methods: CD25 expression by flow cytometry (FC) was correlated with Ph status in 95 newly diagnosed B-LL patients and with RD status in day 29 marrow measured by FC in the context of cytogenetic risk stratification in Ph- patients...
November 1, 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28430565/do-physicians-have-an-ethical-duty-to-repair-relationships-with-so-called-difficult-patients
#13
Micah Johnson
This essay argues that physicians hold primary ethical responsibility for repairing damaged patient-physician relationships. The first section establishes that the patient-physician relationship has an important influence on patient health and argues that physicians' duty to treat should be understood as including a responsibility to repair broken relationships, regardless of which party was "responsible" for the initial tension. The second section argues that the person with more power to repair the relationship also has more responsibility to do so and considers the moral psychology of pain as foundational to conceiving the patient in this case as especially vulnerable and disempowered...
April 1, 2017: AMA Journal of Ethics
https://www.readbyqxmd.com/read/28430522/impact-of-naturalistic-lighting-on-hospitalized-stroke-patients-in-a-rehabilitation-unit-design-and-measurement
#14
Anders West, Poul Jennum, Sofie Amalie Simonsen, Birgit Sander, Milena Pavlova, Helle K Iversen
INTRODUCTION AND RATIONALE: Stroke is a major cause of acquired cerebral disability among adults, frequently accompanied by depression, anxiety, cognitive impairment, disrupted sleep and fatigue. New ways of intervention to prevent these complications are therefore needed. The major circadian regulator, the suprachiasmatic nucleus, is mainly controlled by natural daylight, and the blue spectrum is considered the most powerful. During stroke rehabilitation, patients typically are mostly indoors and therefore not exposed to the natural daytime variation in light intensity...
April 21, 2017: Chronobiology International
https://www.readbyqxmd.com/read/28430507/beating-the-standard-sensitivity-bandwidth-limit-of-cavity-enhanced-interferometers-with-internal-squeezed-light-generation
#15
M Korobko, L Kleybolte, S Ast, H Miao, Y Chen, R Schnabel
The shot-noise limited peak sensitivity of cavity-enhanced interferometric measurement devices, such as gravitational-wave detectors, can be improved by increasing the cavity finesse, even when comparing fixed intracavity light powers. For a fixed light power inside the detector, this comes at the price of a proportional reduction in the detection bandwidth. High sensitivity over a large span of signal frequencies, however, is essential for astronomical observations. It is possible to overcome this standard sensitivity-bandwidth limit using nonclassical correlations in the light field...
April 7, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28430497/observation-of-thermal-equilibrium-in-capillary-wave-turbulence
#16
Guillaume Michel, François Pétrélis, Stéphan Fauve
We investigate capillary wave turbulence at scales larger than the forcing one. At such scales, our measurements show that the surface waves dynamics is the one of a thermal equilibrium state in which the effective temperature is related to the injected power. We characterize this evolution with a scaling law and report the statistical properties of the large-scale surface elevation depending on this effective temperature.
April 7, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28430495/superstatistical-energy-distributions-of-an-ion-in-an-ultracold-buffer-gas
#17
I Rouse, S Willitsch
An ion in a radio frequency ion trap interacting with a buffer gas of ultracold neutral atoms is a driven dynamical system which has been found to develop a nonthermal energy distribution with a power law tail. The exact analytical form of this distribution is unknown, but has often been represented empirically by q-exponential (Tsallis) functions. Based on the concepts of superstatistics, we introduce a framework for the statistical mechanics of an ion trapped in an rf field subject to collisions with a buffer gas...
April 7, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28430491/thermal-hall-effect-in-a-phonon-glass-ba_-3-cusb_-2-o_-9
#18
K Sugii, M Shimozawa, D Watanabe, Y Suzuki, M Halim, M Kimata, Y Matsumoto, S Nakatsuji, M Yamashita
A distinct thermal Hall signal is observed in a quantum spin liquid candidate Ba_{3}CuSb_{2}O_{9}. The transverse thermal conductivity shows a power-law temperature dependence below 50 K, where a spin gap opens. We suggest that because of the very low longitudinal thermal conductivity and the thermal Hall signals, a phonon Hall effect is induced by strong phonon scattering of orphan Cu^{2+} spins formed in the random domains of the Cu^{2+}-Sb^{5+} dumbbells in Ba_{3}CuSb_{2}O_{9}.
April 7, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28430464/accurate-determination-of-the-quasiparticle-and-scaling-properties-surrounding-the-quantum-critical-point-of-disordered-three-dimensional-dirac-semimetals
#19
Bo Fu, Wei Zhu, Qinwei Shi, Qunxiang Li, Jinlong Yang, Zhenyu Zhang
Exploiting the enabling power of the Lanczos method in momentum space, we determine accurately the quasiparticle and scaling properties of disordered three-dimensional Dirac semimetals surrounding the quantum critical point separating the semimetal and diffusive metal regimes. We unveil that the imaginary part of the quasiparticle self-energy obeys a common power law before, at, and after the quantum phase transition, but the power law is nonuniversal, whose exponent is dependent on the disorder strength. More intriguingly, whereas a common power law is also found for the real part of the self-energy before and after the phase transition, a distinctly different behavior is identified at the critical point, characterized by the existence of a nonanalytic logarithmic singularity...
April 7, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28430461/quantifying-the-dynamical-complexity-of-chaotic-time-series
#20
Antonio Politi
A powerful approach is proposed for the characterization of chaotic signals. It is based on the combined use of two classes of indicators: (i) the probability of suitable symbolic sequences (obtained from the ordinal patterns of the corresponding time series); (ii) the width of the corresponding cylinder sets. This way, much information can be extracted and used to quantify the complexity of a given signal. As an example of the potentiality of the method, I introduce a modified permutation entropy which allows for quantitative estimates of the Kolmogorov-Sinai entropy in hyperchaotic models, where other methods would be unpractical...
April 7, 2017: Physical Review Letters
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