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Christopher Thompson

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https://www.readbyqxmd.com/read/28636740/initial-experience-of-a-hereditary-hemorrhagic-telangiectasia-center-of-excellence
#1
Christopher F Thompson, Jeffrey D Suh, Justin McWilliams, Gary Duckwiler, Marilene B Wang
Our objectives in reviewing the initial experience of a hereditary hemorrhagic telangiectasia center of excellence (HHT COE) were to better understand the interventions being performed in the comprehensive care of these patients and to present the early data as a reference for other tertiary centers considering starting an HHT COE. We conducted a retrospective review of consecutive patients referred to our newly developed HHT COE for evaluation and treatment between May 2010 and June 2013. Clinical presentation, otolaryngologic treatments, and other operative interventions were analyzed...
June 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28628100/hotspots-of-missense-mutation-identify-neurodevelopmental-disorder-genes-and-functional-domains
#2
Madeleine R Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P Coe, Tychele N Turner, Holly A F Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, Antonino Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J Michaelson, Zdenek Sedlacek, Gijs W E Santen, Hilde Peeters, Hakon Hakonarson, Eric Courchesne, Corrado Romano, R Frank Kooy, Raphael A Bernier, Magnus Nordenskjöld, Jozef Gecz, Kun Xia, Larry S Zweifel, Evan E Eichler
Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted sequencing of 20 sites in 17,688 patients with NDD identified 21 new patients with identical missense mutations...
June 19, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28625726/pulmonary-administration-of-soluble-antigen-arrays-is-superior-to-antigen-in-treatment-of-experimental-autoimmune-encephalomyelitis
#3
Christopher Kuehl, Sharadvi Thati, Bradley Sullivan, Joshua Sestak, Michael Thompson, Teruna Siahaan, Cory Berkland
Antigen-specific immunotherapy (ASIT) has been used to hyposensitize patients to allergens and offers an enticing approach for attenuating autoimmune diseases. Applying ASIT to mucosal surfaces such as the lungs may engage unique immune response pathways to improve efficacy. Pulmonary delivery of soluble antigen arrays (SAgAs) was explored in mice with experimental autoimmune encephalomyelitis (EAE), a multiple sclerosis model. SAgAs were designed to impede immune response to autoantigen epitopes and are composed of a hyaluronan backbone with peptides PLP139-151 and LABL, a disease-causing proteolipid peptide epitope and an ICAM-1 ligand, respectively...
June 15, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28622802/rapid-multiplex-dna-amplification-on-an-inexpensive-microdevice-for-human-identification-via-short-tandem-repeat-analysis
#4
Jacquelyn A DuVall, Delphine Le Roux, Brandon L Thompson, Christopher Birch, Daniel A Nelson, Jingyi Li, Daniel L Mills, An-Chi Tsuei, Martin G Ensenberger, Cindy Sprecher, Douglas R Storts, Brian E Root, James P Landers
Forensic DNA analysis requires several steps, including DNA extraction, PCR amplification, and separation of PCR fragments. Intuitively, there are numerous situations where it would be beneficial to speed up the overall DNA analysis process; in this work, we focus on the most time-consuming component in the analysis pipeline, namely the polymerase chain reaction (PCR). Primers were specially designed to target 10 human genomic loci, all yielding amplicons shorter than 350 bases, for ease of downstream integration with on-board microchip electrophoresis...
August 8, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28618201/targeted-quantification-of-functional-enzyme-dynamics-in-environmental-samples-for-microbially-mediated-biogeochemical-processes
#5
Minjing Li, Yuqian Gao, Wei-Jun Qian, Liang Shi, Yuanyuan Liu, William C Nelson, Carrie D Nicora, Charles T Resch, Christopher Thompson, Sen Yan, James K Fredrickson, John M Zachara, Chongxuan Liu
Microbial enzymes catalytically drive biogeochemical processes in environments. The dynamic linkage between functional enzymes and biogeochemical species transformation has, however, rarely been investigated for decades because of the challenges to directly quantify enzymes in environmental samples. The diversity of microorganisms, the low amount of available biomass, and the complexity of chemical composition in environmental samples represent the main challenges. To address the diversity challenge, we first identify several signature peptides that are conserved in the targeted enzymes with the same functionality across many phylogenetically diverse microorganisms using metagenome-based protein sequence data...
June 15, 2017: Environmental Microbiology Reports
https://www.readbyqxmd.com/read/28617224/enigma-viewer-interactive-visualization-strategies-for-conveying-effect-sizes-in-meta-analysis
#6
Guohao Zhang, Peter Kochunov, Elliot Hong, Sinead Kelly, Christopher Whelan, Neda Jahanshad, Paul Thompson, Jian Chen
BACKGROUND: Global scale brain research collaborations such as the ENIGMA (Enhancing Neuro Imaging Genetics through Meta Analysis) consortium are beginning to collect data in large quantity and to conduct meta-analyses using uniformed protocols. It becomes strategically important that the results can be communicated among brain scientists effectively. Traditional graphs and charts failed to convey the complex shapes of brain structures which are essential to the understanding of the result statistics from the analyses...
June 6, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28616506/the-hookworm-ancylostoma-ceylanicum-an-emerging-public-health-risk-in-australian-tropical-rainforests-and-indigenous-communities
#7
Felicity A Smout, Lee F Skerratt, James R A Butler, Christopher N Johnson, Bradley C Congdon, R C Andrew Thompson
Ancylostoma ceylanicum is the common hookworm of domestic dogs and cats throughout Asia, and is an emerging but little understood public health risk in tropical northern Australia. We investigated the prevalence of A. ceylanicum in soil and free-ranging domestic dogs at six rainforest locations in Far North Queensland that are Indigenous Australian communities and popular tourist attractions within the Wet Tropics World Heritage Area. By combining PCR-based techniques with traditional methods of hookworm species identification, we found the prevalence of hookworm in Indigenous community dogs was high (96...
June 2017: One Health
https://www.readbyqxmd.com/read/28605551/abc-2-method-does-not-accurately-predict-cerebral-arteriovenous-malformation-volume
#8
Christopher Roark, Venu Vadlamudi, Neeraj Chaudhary, Joseph J Gemmete, Joshua Seinfeld, B Gregory Thompson, Aditya S Pandey
BACKGROUND: Stereotactic radiosurgery (SRS) is a treatment option for cerebral arteriovenous malformations (AVMs) to prevent intracranial hemorrhage. The decision to proceed with SRS is usually based on calculated nidal volume. Physicians commonly use the ABC/2 formula, based on digital subtraction angiography (DSA), when counseling patients for SRS. OBJECTIVE: To determine whether AVM volume calculated using the ABC/2 method on DSA is accurate when compared to the exact volume calculated from thin-cut axial sections used for SRS planning...
June 10, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28598156/ultrafast-self-assembly-of-sub-10-nm-block-copolymer-nanostructures-by-solvent-free-high-temperature-laser-annealing
#9
Jing Jiang, Alan G Jacobs, Brandon Wenning, Clemens Liedel, Michael O Thompson, Christopher K Ober
Laser spike annealing was applied to PS-b-PDMS diblock copolymers to induce short-time (millisecond time scale), high-temperature (300 to 700 °C) microphase segregation and directed self-assembly of sub-10 nm features. Conditions were identified that enabled uniform microphase separation in the time frame of tens of milliseconds. Microphase ordering improved with increased temperature and annealing time, whereas phase separation contrast was lost for very short annealing times at high temperature. PMMA brush underlayers aided ordering under otherwise identical laser annealing conditions...
June 9, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28574597/mortality-rates-are-lower-in-siad-than-in-hypervolaemic-or-hypovolaemic-hyponatraemia-results-of-a-prospective-observational-study
#10
Martín Cuesta, Aoife Garrahy, David Slattery, Saket Gupta, Anne Marie Hannon, Karen McGurren, Mark Sherlock, William Tormey, Christopher J Thompson
OBJECTIVE: Hyponatremia is associated with increased mortality, but the mortality associated specifically with SIAD is not known. We hypothesised that mortality in SIAD was elevated, but that it was less than in hypervolemic(HEN) or hypovolemic(HON) hyponatremia. DESIGN: Mortality rates are presented as risk ratios(RR),with 95% confidence intervals (CI), and compared to normonatremic controls(NN). METHODS: Prospective, single center, non-interventional study of all patients with hyponatremia(≤ 130 mmol/l) admitted to hospital...
June 2, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28572229/hyponatraemia-presentations-and-management
#11
Rosemary Dineen, Christopher J Thompson, Mark Sherlock
Hyponatraemia is the most common electrolyte disturbance encountered in clinical practice. It is associated with -significant morbidity and mortality, thus appropriate investigation and treatment is essential. Hyponatraemia presents with a spectrum of clinical presentations ranging from no symptoms to life-threatening neurological sequelae. Hyponatraemia has multiple aetiologies and distinguishing the underlying aetiology facilitates appropriate treatment. This review provides an overview of the presentations and approaches to management of this common clinical condition...
June 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/28544882/inference-and-evolutionary-analysis-of-genome-scale-regulatory-networks-in-large-phylogenies
#12
Christopher Koch, Jay Konieczka, Toni Delorey, Ana Lyons, Amanda Socha, Kathleen Davis, Sara A Knaack, Dawn Thompson, Erin K O'Shea, Aviv Regev, Sushmita Roy
Changes in transcriptional regulatory networks can significantly contribute to species evolution and adaptation. However, identification of genome-scale regulatory networks is an open challenge, especially in non-model organisms. Here, we introduce multi-species regulatory network learning (MRTLE), a computational approach that uses phylogenetic structure, sequence-specific motifs, and transcriptomic data, to infer the regulatory networks in different species. Using simulated data from known networks and transcriptomic data from six divergent yeasts, we demonstrate that MRTLE predicts networks with greater accuracy than existing methods because it incorporates phylogenetic information...
May 24, 2017: Cell Systems
https://www.readbyqxmd.com/read/28536297/androgen-receptor-inhibitor-induced-brcaness-and-parp-inhibition-are-synthetically-lethal-for-castration-resistant-prostate-cancer
#13
Likun Li, Styliani Karanika, Guang Yang, Jiangxiang Wang, Sanghee Park, Bradley M Broom, Ganiraju C Manyam, Wenhui Wu, Yong Luo, Spyridon Basourakos, Jian H Song, Gary E Gallick, Theodoros Karantanos, Dimitrios Korentzelos, Abul Kalam Azad, Jeri Kim, Paul G Corn, Ana M Aparicio, Christopher J Logothetis, Patricia Troncoso, Timothy Heffernan, Carlo Toniatti, Hyun-Sung Lee, Ju-Seog Lee, Xuemei Zuo, Wenjun Chang, Jianhua Yin, Timothy C Thompson
Cancers with loss-of-function mutations in BRCA1 or BRCA2 are deficient in the DNA damage repair pathway called homologous recombination (HR), rendering these cancers exquisitely vulnerable to poly(ADP-ribose) polymerase (PARP) inhibitors. This functional state and therapeutic sensitivity is referred to as "BRCAness" and is most commonly associated with some breast cancer types. Pharmaceutical induction of BRCAness could expand the use of PARP inhibitors to other tumor types. For example, BRCA mutations are present in only ~20% of prostate cancer patients...
May 23, 2017: Science Signaling
https://www.readbyqxmd.com/read/28536274/mapping-22q11-2-gene-dosage-effects-on-brain-morphometry
#14
Amy Lin, Christopher R K Ching, Ariana Vajdi, Daqiang Sun, Rachel K Jonas, Maria Jalbrzikowski, Leila Kushan-Wells, Laura Pacheco Hansen, Emma Krikorian, Boris Gutman, Deepika Dokoru, Gerhard Helleman, Paul M Thompson, Carrie E Bearden
Reciprocal chromosomal rearrangements at the 22q11.2 locus are associated with elevated risk of neurodevelopmental disorders. The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 143 human subjects: 66 with 22q11.2 deletions (22q-del; 32 males), 21 with 22q11...
May 23, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28512850/in-situ-handheld-3d-bioprinting-for-cartilage-regeneration
#15
Claudia Di Bella, Serena Duchi, Cathal D O'Connell, Romane Blanchard, Cheryl Augustine, Zhilian Yue, Fletcher Thompson, Christopher Richards, Stephen Beirne, Carmine Onofrillo, Sebastien H Bauquier, Stewart D Ryan, Peter Pivonka, Gordon G Wallace, Peter F Choong
Articular cartilage injuries experienced at an early age can lead to the development of osteoarthritis later in life. In situ 3D printing is an exciting and innovative bio-fabrication technology that enables the surgeon to deliver tissue- engineering techniques at the time and location of need. We have created a hand- held 3D printing device (Biopen) that allows the simultaneous co-axial extrusion of bioscaffold and cultured cells directly into the cartilage defect in vivo in a single session surgery. This pilot study assesses the ability of the Biopen to repair a full thickness chondral defect and the early outcomes in cartilage regeneration, and compares these results to other treatments in a large animal model...
May 17, 2017: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/28508892/high-precision-hyperfine-measurements-in-bismuth-challenge-bound-state-strong-field-qed
#16
Johannes Ullmann, Zoran Andelkovic, Carsten Brandau, Andreas Dax, Wolfgang Geithner, Christopher Geppert, Christian Gorges, Michael Hammen, Volker Hannen, Simon Kaufmann, Kristian König, Yuri A Litvinov, Matthias Lochmann, Bernhard Maaß, Johann Meisner, Tobias Murböck, Rodolfo Sánchez, Matthias Schmidt, Stefan Schmidt, Markus Steck, Thomas Stöhlker, Richard C Thompson, Christian Trageser, Jonas Vollbrecht, Christian Weinheimer, Wilfried Nörtershäuser
Electrons bound in highly charged heavy ions such as hydrogen-like bismuth (209)Bi(82+) experience electromagnetic fields that are a million times stronger than in light atoms. Measuring the wavelength of light emitted and absorbed by these ions is therefore a sensitive testing ground for quantum electrodynamical (QED) effects and especially the electron-nucleus interaction under such extreme conditions. However, insufficient knowledge of the nuclear structure has prevented a rigorous test of strong-field QED...
May 16, 2017: Nature Communications
https://www.readbyqxmd.com/read/28507895/diverging-volumetric-trajectories-following-pediatric-traumatic-brain-injury
#17
Emily L Dennis, Joshua Faskowitz, Faisal Rashid, Talin Babikian, Richard Mink, Christopher Babbitt, Jeffrey Johnson, Christopher C Giza, Neda Jahanshad, Paul M Thompson, Robert F Asarnow
Traumatic brain injury (TBI) is a significant public health concern, and can be especially disruptive in children, derailing on-going neuronal maturation in periods critical for cognitive development. There is considerable heterogeneity in post-injury outcomes, only partially explained by injury severity. Understanding the time course of recovery, and what factors may delay or promote recovery, will aid clinicians in decision-making and provide avenues for future mechanism-based therapeutics. We examined regional changes in brain volume in a pediatric/adolescent moderate-severe TBI (msTBI) cohort, assessed at two time points...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28499405/a-comparative-molecular-and-3-dimensional-structural-investigation-into-cross-continental-and-novel-avian-trypanosoma-spp-in-australia
#18
Crystal Cooper, R C Andrew Thompson, Adriana Botero, Amanda Kristancic, Christopher Peacock, Yaowanuj Kirilak, Peta L Clode
BACKGROUND: Molecular and structural information on avian Trypanosoma spp. throughout Australia is limited despite their intrinsic value in understanding trypanosomatid evolution, diversity, and structural biology. In Western Australia tissue samples (n = 429) extracted from 93 birds in 25 bird species were screened using generic PCR primers to investigate the diversity of Trypanosoma spp. To investigate avian trypanosome structural biology the first 3-dimensional ultrastructural models of a Trypanosoma spp...
May 12, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28490751/unexpected-efficacy-of-a-novel-sodium-channel-modulator-in-dravet-syndrome
#19
Lyndsey L Anderson, Nicole A Hawkins, Christopher H Thompson, Jennifer A Kearney, Alfred L George
Dravet syndrome, an epileptic encephalopathy affecting children, largely results from heterozygous loss-of-function mutations in the brain voltage-gated sodium channel gene SCN1A. Heterozygous Scn1a knockout (Scn1a (+/-)) mice recapitulate the severe epilepsy phenotype of Dravet syndrome and are an accepted animal model. Because clinical observations suggest conventional sodium channel blocking antiepileptic drugs may worsen the disease, we predicted the phenotype of Scn1a (+/-) mice would be exacerbated by GS967, a potent, unconventional sodium channel blocker...
May 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28490171/management-of-perforation-following-stricture-dilation
#20
Matthew J Skinner, Christopher C Thompson
Strictures can occur along any portions of the gastrointestinal tract for a variety of reasons and are commonly complicated by partial or complete obstruction. Endoscopic management of strictures is common, and generally safe. The most dreaded complication of stricture dilation is perforation due to high morbidity and mortality. The treatment of perforation following stricture dilation is commonly multidisciplinary and should involve gastrointestinal, surgical, and interventional radiology teams. A variety of devices and techniques are available to the endoscopist which now allow for successful endoscopic management of perforation in many cases...
August 2017: Minerva Chirurgica
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