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https://www.readbyqxmd.com/read/28726806/data-sharing-as-a-national-quality-improvement-program-reporting-on-brca1-and-brca2-variant-interpretation-comparisons-through-the-canadian-open-genetics-repository-cogr
#1
Matthew S Lebo, Kathleen-Rose Zakoor, Kathy Chun, Marsha D Speevak, John S Waye, Elizabeth McCready, Jillian S Parboosingh, Ryan E Lamont, Harriet Feilotter, Ian Bosdet, Tracy Tucker, Sean Young, Aly Karsan, George S Charames, Ronald Agatep, Elizabeth L Spriggs, Caitlin Chisholm, Nasim Vasli, Hussein Daoud, Olga Jarinova, Robert Tomaszewski, Stacey Hume, Sherryl Taylor, Mohammad R Akbari, Jordan Lerner-Ellis
PurposeThe purpose of this study was to develop a national program for Canadian diagnostic laboratories to compare DNA-variant interpretations and resolve discordant-variant classifications using the BRCA1 and BRCA2 genes as a case study.MethodsBRCA1 and BRCA2 variant data were uploaded and shared through the Canadian Open Genetics Repository (COGR; http://www.opengenetics.ca). A total of 5,554 variant observations were submitted; classification differences were identified and comparison reports were sent to participating laboratories...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28724697/facts-and-values-on-the-acceptability-of-risks-in-children-s-sport-using-the-example-of-rugby-a-narrative-review
#2
REVIEW
Kenneth Lincoln Quarrie, John H M Brooks, Nicholas Burger, Patria A Hume, Steve Jackson
A clash of values has been identified between those who assert that:1. all childhood injuries, regardless of origin, are inherently undesirable and should be prevented and;2. those who believe that some measure of injury to children is an acceptable compromise for the physical benefits associated with physical activity and the development of abilities to appraise and deal with risks.A debate regarding whether the tackles and collisions permitted in schools' rugby represent acceptable risks, and what steps should be taken if they do not, exemplifies the issue...
August 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28722588/optimizing-direct-membrane-and-direct-skin-feeding-assays-for-plasmodium-falciparum-transmission-blocking-vaccine-trials-in-bancoumana-mali
#3
Mamadou B Coulibaly, Erin E Gabriel, Youssouf Sinaba, Daman Sylla, Adama Sacko, Lakamy Sylla, Boubacar Coulibaly, Jen C C Hume, Ibrahima Baber, Mahamadoun H Assadou, Issaka Sagara, Yimin Wu, Sara A Healy, Ogobara Doumbo, Sekou F Traore, Patrick E Duffy
Malaria transmission-blocking vaccines (TBV) have been evaluated in field trials in Mali, since 2013. However, the assays currently used to measure serum antibody TB activity (TBA) after vaccination are highly variable, in part due to the lack of optimization and standardization for field assays in which mosquitoes feed on gametocytemic blood. Herein, we report a study conducted in Bancoumana village, Mali, where we identify and optimize the parameters that contribute to successful mosquito feeding outcomes in both direct skin feeds (DSFs) and direct membrane feeding assays (DMFA)...
June 26, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28719564/the-new-apgar-score-a-checklist-to-enhance-quality-of-life-in-geriatric-patients-with-hip-fracture
#4
Joseph Bernstein, Sara Weintraub, Eric Hume, Mark D Neuman, Stephen L Kates, Jaimo Ahn
For geriatric patients with hip fractures, the broken bone is the reason for admission, but only part of the overall disease. Indeed, it may be more helpful to consider the patient having geriatric hip fracture syndrome or sustaining a hip attack, as there are many associated medical, social, psychological, and other problems to which attention must be paid. To that end, we have identified a series of 10 steps, collected into a checklist, that can be undertaken for all patients with geriatric hip fracture. In homage to the maxim "we come into the world under the brim of the pelvis and go out through the neck of the femur," we defined our checklist by the acronym APGAR SCORE, named after the classic checklist of the same name used to assess a newborn child...
July 19, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28698369/a-distinct-subpopulation-of-cd25-t-follicular-regulatory-cells-localizes-in-the-germinal-centers
#5
James Badger Wing, Yohko Kitagawa, Michela Locci, Hannah Hume, Christopher Tay, Takayoshi Morita, Yujiro Kidani, Kyoko Matsuda, Takeshi Inoue, Tomohiro Kurosaki, Shane Crotty, Cevayir Coban, Naganari Ohkura, Shimon Sakaguchi
T-follicular helper (Tfh) cells differentiate through a multistep process, culminating in germinal center (GC) localized GC-Tfh cells that provide support to GC-B cells. T-follicular regulatory (Tfr) cells have critical roles in the control of Tfh cells and GC formation. Although Tfh-cell differentiation is inhibited by IL-2, regulatory T (Treg) cell differentiation and survival depend on it. Here, we describe a CD25(-) subpopulation within both murine and human PD1(+)CXCR5(+)Foxp3(+) Tfr cells. It is preferentially located in the GC and can be clearly differentiated from CD25(+) non-GC-Tfr, Tfh, and effector Treg (eTreg) cells by the expression of a wide range of molecules...
July 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28688121/assessing-the-cost-of-implementing-the-2011-society-of-obstetricians-and-gynecologists-of-canada-and-canadian-college-of-medical-genetics-practice-guidelines-on-the-detection-of-fetal-aneuploidies
#6
Margaret Lilley, Stacey Hume, Nina Karpoff, Georges Maire, Sherry Taylor, Robert Tomaszewski, Maisa Yoshimoto, Susan Christian
BACKGROUND: The Society of Obstetricians and Gynecologists of Canada (SOGC) and the Canadian College of Medical Genetics (CCMG) published guidelines, in 2011, recommending replacement of karyotype with QF-PCR when prenatal testing is performed because of an increased risk of a common aneuploidy. STUDY OBJECTIVE: This study's objective is to perform a cost analysis following the implementation of QF-PCR as a stand-alone test. RESULTS: A total of 658 samples were received between April 1, 2014 and August 31, 2015: 576 amniocentesis samples and 82 CVS...
July 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28687060/safety-limit-warning-levels-for-the-avoidance-of-excessive-sound-amplification-to-protect-against-further-hearing-loss
#7
Earl E Johnson
OBJECTIVE: To determine safe output sound pressure levels (SPL) for sound amplification devices to preserve hearing sensitivity after usage. DESIGN: A mathematical model consisting of the Modified Power Law (MPL) (Humes & Jesteadt, 1991 ) combined with equations for predicting temporary threshold shift (TTS) and subsequent permanent threshold shift (PTS) (Macrae, 1994b ) was used to determine safe output SPL. STUDY SAMPLE: The study involves no new human subject measurements of loudness tolerance or threshold shifts...
July 7, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28685291/filovirus-strategies-to-escape-antiviral-responses
#8
Judith Olejnik, Adam J Hume, Daisy W Leung, Gaya K Amarasinghe, Christopher F Basler, Elke Mühlberger
This chapter describes the various strategies filoviruses use to escape host immune responses with a focus on innate immune and cell death pathways. Since filovirus replication can be efficiently blocked by interferon (IFN), filoviruses have evolved mechanisms to counteract both type I IFN induction and IFN response signaling pathways. Intriguingly, marburg- and ebolaviruses use different strategies to inhibit IFN signaling. This chapter also summarizes what is known about the role of IFN-stimulated genes (ISGs) in filovirus infection...
July 8, 2017: Current Topics in Microbiology and Immunology
https://www.readbyqxmd.com/read/28666005/genetic-structure-of-coral-symbiodinium-symbioses-on-the-world-s-warmest-reefs
#9
Edward G Smith, Benjamin C C Hume, Patrice Delaney, Jörg Wiedenmann, John A Burt
Corals in the Arabian/Persian Gulf (PAG) survive extreme sea temperatures (summer mean: >34°C), and it is unclear whether these corals have genetically adapted or physiologically acclimated to these conditions. In order to elucidate the processes involved in the thermal tolerance of PAG corals, it is essential to understand the connectivity between reefs within and outside of the PAG. To this end, this study set out to investigate the genetic structure of the coral, Platygyra daedalea, and its symbiotic algae in the PAG and neighbouring Gulf of Oman...
2017: PloS One
https://www.readbyqxmd.com/read/28645167/-it-s-important-but%C3%A2-perceived-barriers-and-situational-dependencies-to-social-contact-preferences-of-nursing-home-residents
#10
Katherine M Abbott, Lauren R Bangerter, Sarah Humes, Rachel Klumpp, Kimberly Van Haitsma
Background and Objectives: U.S. Nursing homes (NH) are shifting toward a person-centered philosophy of care, where staff understand each residents preferences, goals and values, and seek to honor them throughout the care delivery process. Social interactions are a major component of life and while low rates of social interactions are typically found among NH residents, little research has examined resident preferences for specific types of social interactions. The purpose of this study is to explore, from the perspective of the NH resident, barriers to social contact preferences and situations when social preferences change...
June 22, 2017: Gerontologist
https://www.readbyqxmd.com/read/28633003/assessment-of-selected-overdose-poisoning-indicators-in-health-care-administrative-data-in-4-states-2012
#11
Beth Hume, Barbara Gabella, Jeanne Hathaway, Scott Proescholdbell, Cristy Sneddon, Elizabeth Brutsch, Riley Hedin, Christopher J Drucker
OBJECTIVES: In 2012, a consensus document was developed on drug overdose poisoning definitions. We took the opportunity to apply these new definitions to health care administrative data in 4 states. Our objective was to calculate and compare drug (particularly opioid) poisoning rates in these 4 states for 4 selected Injury Surveillance Workgroup 7 (ISW7) drug poisoning indicators, using 2 ISW7 surveillance definitions, Option A and Option B. We also identified factors related to the health care administrative data used by each state that might contribute to poisoning rate variations...
July 2017: Public Health Reports
https://www.readbyqxmd.com/read/28628125/enhanced-insulin-sensitivity-in-successful-long-term-weight-loss-maintainers-compared-with-matched-controls-with-no-weight-loss-history
#12
L D Clamp, D J Hume, E V Lambert, J Kroff
BACKGROUND: Weight gain is associated with deterioration in metabolic health, whereas weight loss improves insulin sensitivity. This study assesses the impact of long-term, successfully maintained weight loss and weight-loss relapse on measures of insulin sensitivity and identifies factors that explain variability in insulin sensitivity. METHODS: Women (20-45 years) were recruited into four groups: reduced-overweight/obese (RED, n=15); body mass index (BMI)-matched controls (stable low-weight, n=19), BMI⩽27 kg m(-2); relapsed-overweight/obese subjects (REL, n=11); and BMI-matched controls (obese stable weight, n=11), BMI⩾27 kg m(-2)...
June 19, 2017: Nutrition & Diabetes
https://www.readbyqxmd.com/read/28615302/ccr2-dependent-monocyte-derived-macrophages-resolve-inflammation-and-restore-gut-motility-in-postoperative-ileus
#13
Giovanna Farro, Michelle Stakenborg, Pedro J Gomez-Pinilla, Evelien Labeeuw, Gera Goverse, Martina Di Giovangiulio, Nathalie Stakenborg, Elisa Meroni, Francesca D'Errico, Yvon Elkrim, Damya Laoui, Zofia M Lisowski, Kristin A Sauter, David A Hume, Jo A Van Ginderachter, Guy E Boeckxstaens, Gianluca Matteoli
OBJECTIVE: Postoperative ileus (POI) is assumed to result from myeloid cells infiltrating the intestinal muscularis externa (ME) in patients undergoing abdominal surgery. In the current study, we investigated the role of infiltrating monocytes in a murine model of intestinal manipulation (IM)-induced POI in order to clarify whether monocytes mediate tissue damage and intestinal dysfunction or they are rather involved in the recovery of gastrointestinal (GI) motility. DESIGN: IM was performed in mice with defective monocyte migration to tissues (C-C motif chemokine receptor 2, Ccr2(-/ (-)) mice) and wild-type (WT) mice to study the role of monocytes and monocyte-derived macrophages (MΦs) during onset and resolution of ME inflammation...
June 14, 2017: Gut
https://www.readbyqxmd.com/read/28614195/assessment-of-knee-kinematics-in-older-adults-using-high-speed-stereo-radiography
#14
Vasiliki Kefala, Adam J Cyr, Michael D Harris, Donald R Hume, Bradley S Davidson, Raymond H Kim, Kevin B Shelburne
PURPOSE: Quantification of knee motion is essential for assessment of pathologic joint function, such as tracking osteoarthritis progression and evaluating outcomes following conservative or surgical treatment, including total knee arthroplasty. Our purpose was to establish a useful baseline for the kinematic envelope of knee motion in healthy older adults performing movements of daily living. METHODS: A high-speed stereo radiography system was used to measure the three-dimensional tibiofemoral kinematics of eight healthy people over 55 years of age (4F/4M, age=61...
June 13, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28610557/integration-of-quantitated-expression-estimates-from-polya-selected-and-rrna-depleted-rna-seq-libraries
#15
Stephen J Bush, Mary E B McCulloch, Kim M Summers, David A Hume, Emily L Clark
BACKGROUND: The availability of fast alignment-free algorithms has greatly reduced the computational burden of RNA-seq processing, especially for relatively poorly assembled genomes. Using these approaches, previous RNA-seq datasets could potentially be processed and integrated with newly sequenced libraries. Confounding factors in such integration include sequencing depth and methods of RNA extraction and selection. Different selection methods (typically, either polyA-selection or rRNA-depletion) omit different RNAs, resulting in different fractions of the transcriptome being sequenced...
June 13, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28610056/a-new-asterocherid-genus-copepoda-siphonostomatoida-associated-with-i-callyspongia-i-duchassaing-amp-michelotti-and-reassessment-of-six-species-of-i-asterocheres-i-boeck
#16
Roberta Canário, Carlos Eduardo Falavigna DA Rocha, Elizabeth Neves, Rodrigo Johnsson
The family Asterocheridae Giesbrecht has several genera associated with sponges including Asterocheres Boeck, 1859. The type genus is commonly found in sponges but it is also recorded in echinoderms, bryozoans, and corals. A revision of the diagnosis of Asterocheres conducted in 2010 was the beginning of a reorganization process, culminating in the present status of 63 valid species. This study describes a new species and genus of the Asterocheridae. Neoasterocheres gen. nov. shares many characteristics with Asterocheres sensu stricto, except for the antennule segmentation which shows ancestral segments IX-XII fused to segment XIII...
March 27, 2017: Zootaxa
https://www.readbyqxmd.com/read/28601736/upper-extremity-non-contrast-magnetic-resonance-venography-mrv-compared-to-contrast-enhanced-mrv-and-ultrasound
#17
Ruth P Lim, Emma Hornsey, Dinesh Ranatunga, Huming Hao, Julie Smith, Tim Spelman, Jason Chuen, Mark Goodwin
PURPOSE: To assess feasibility, image quality and measured venous caliber of non-contrast MRV (NC-MRV) of central and upper extremity veins, compared to contrast-enhanced MRV (CE-MRV) and ultrasound (US) in healthy volunteers. MATERIALS AND METHODS: 10 subjects underwent NC-MRV and CE-MRV at 1.5 T, with comparison to US. Two radiologists evaluated MRI for image quality (IQ) and venous caliber. RESULTS AND CONCLUSIONS: NC-MRV is feasible, with inferior IQ but comparable venous caliber measurements CE-MRV (mean 7...
June 6, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28596023/prebiotic-reduces-body-fat-and-alters-intestinal-microbiota-in-children-with-overweight-or-obesity
#18
Alissa C Nicolucci, Megan P Hume, Inés Martínez, Shyamchand Mayengbam, Jens Walter, Raylene A Reimer
BACKGROUND & AIMS: It might be possible to manipulate the intestinal microbiota with prebiotics or other agents to prevent or treat obesity. However, little is known about the ability of prebiotics to specifically modify gut microbiota in children with overweight/obesity or reduce body weight. We performed a randomized controlled trial to study the effects of prebiotics on body composition, markers of inflammation, bile acids in fecal samples, and composition of the intestinal microbiota in children with overweight or obesity...
June 3, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28567546/examining-the-efficacy-of-peer-network-interventions-on-the-social-interactions-of-high-school-students-with-autism-spectrum-disorder
#19
Melissa A Sreckovic, Kara Hume, Harriet Able
Developing positive peer relationships is important. Unfortunately, due to challenges in social communication and increased complexity of peer groups during adolescence, many secondary students with autism spectrum disorder (ASD) engage in limited positive social interactions with peers. This study examined the effects of a peer network intervention implemented with three high school students with ASD. A multiple-baseline across participants design was used to evaluate the intervention on initiations and responses to and from students with ASD...
August 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28559319/myosin-va-s-adaptor-protein-melanophilin-enforces-track-selection-on-the-microtubule-and-actin-networks-in-vitro
#20
Angela Oberhofer, Peter Spieler, Yuliya Rosenfeld, Willi L Stepp, Augustine Cleetus, Alistair N Hume, Felix Mueller-Planitz, Zeynep Ökten
Pigment organelles, or melanosomes, are transported by kinesin, dynein, and myosin motors. As such, melanosome transport is an excellent model system to study the functional relationship between the microtubule- and actin-based transport systems. In mammalian melanocytes, it is well known that the Rab27a/melanophilin/myosin Va complex mediates actin-based transport in vivo. However, pathways that regulate the overall directionality of melanosomes on the actin/microtubule networks have not yet been delineated...
June 13, 2017: Proceedings of the National Academy of Sciences of the United States of America
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