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https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#1
John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand
Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28098917/tanning-equipment-use-2014-canadian-community-health-survey
#2
Sami Q Qutob, Michelle O'Brien, Katya Feder, James McNamee, Mireille Guay, John Than
BACKGROUND: Tanning equipment use is related to the early onset of cancer, with the risk increasing as the duration and repetition of exposure increase. In 2009, the International Agency for Research on Cancer classified tanning equipment use as carcinogenic to humans, and according to the World Health Organization, the risk of skin melanoma increases significantly when use begins before age 35. DATA AND METHODS: The rapid response component of the 2014 Canadian Community Health Survey collected data on the use of tanning equipment in the previous 12 months, including reasons for use, frequency/duration of use, precautions taken, and adverse reactions or injuries...
January 18, 2017: Health Reports
https://www.readbyqxmd.com/read/28098819/low-cost-and-flexible-uav-deployment-of-sensors
#3
Lars Yndal Sørensen, Lars Toft Jacobsen, John Paulin Hansen
This paper presents a platform for airborne sensor applications using low-cost, open-source components carried by an easy-to-fly unmanned aircraft vehicle (UAV). The system, available in open-source , is designed for researchers, students and makers for a broad range of exploration and data-collection needs. The main contribution is the extensible architecture for modularized airborne sensor deployment and real-time data visualisation. Our open-source Android application provides data collection, flight path definition and map tools...
January 14, 2017: Sensors
https://www.readbyqxmd.com/read/28098707/descriptive-epidemiology-of-acetabular-dysplasia-the-academic-network-of-conservational-hip-outcomes-research-anchor-periacetabular-osteotomy
#4
Wudbhav N Sankar, Stephen T Duncan, Geneva R Baca, Paul E Beaulé, Michael B Millis, Young-Jo Kim, Christopher L Peters, David A Podeszwa, Perry L Schoenecker, Rafael J Sierra, Ernest L Sink, Daniel J Sucato, Robert T Trousdale, Ira Zaltz, John C Clohisy
BACKGROUND: Periacetabular osteotomy (PAO) is an established treatment for symptomatic acetabular dysplasia, which is a well-recognized cause of hip pain, functional limitations, and secondary osteoarthritis. The purpose of this study was to describe the demographics of patients undergoing PAO, the baseline patient-reported outcome measures for this population, and the types of adjunctive procedures performed at the time of PAO surgery. METHODS: Demographics, disease characteristics, and patient-reported functional measures were prospectively collected from all patients who underwent PAO performed by 12 surgeons from 2008 to 2013...
February 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/28098649/the-authors-reply
#5
Fernando Godinho Zampieri, Otavio T Ranzani, Alexandre B Liborio, John A Kellum
No abstract text is available yet for this article.
February 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28098630/collapse-of-the-microbiome-emergence-of-the-pathobiome-and-the-immunopathology-of-sepsis
#6
John C Alverdy, Monika A Krezalek
The definition of sepsis has been recently modified to accommodate emerging knowledge in the field, while at the same time being recognized as challenging, if not impossible, to define. Here, we seek to clarify the current understanding of sepsis as one that has been typically framed as a disorder of inflammation to one in which the competing interests of the microbiota, pathobiota, and host immune cells lead to loss of resilience and nonresolving organ dysfunction. Here, we challenge the existence of the idea of noninfectious sepsis given that critically ill humans never exist in a germ-free state...
February 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28098627/global-collaboration-in-acute-care-clinical-research-opportunities-challenges-and-needs
#7
John C Marshall
The most impactful research in critical care comes from trials groups led by clinician-investigators who study questions arising through the day-to-day care of critically ill patients. The success of this model reflects both "necessity"-the paucity of new therapies introduced through industry-led research-and "clinical reality"-nuanced modulation of standard practice can have substantial impact on clinically important outcomes. Success in a few countries has fueled efforts to build similar models around the world and to collaborate on an unprecedented scale in large international trials...
February 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28098622/physician-assisted-suicide-and-euthanasia-in-the-icu-a-dialogue-on-core-ethical-issues
#8
Ewan C Goligher, E Wesley Ely, Daniel P Sulmasy, Jan Bakker, John Raphael, Angelo E Volandes, Bhavesh M Patel, Kate Payne, Annmarie Hosie, Larry Churchill, Douglas B White, James Downar
OBJECTIVE: Many patients are admitted to the ICU at or near the end of their lives. Consequently, the increasingly common debate regarding physician-assisted suicide and euthanasia holds implications for the practice of critical care medicine. The objective of this article is to explore core ethical issues related to physician-assisted suicide and euthanasia from the perspective of healthcare professionals and ethicists on both sides of the debate. SYNTHESIS: We identified four issues highlighting the key areas of ethical tension central to evaluating physician-assisted suicide and euthanasia in medical practice: 1) the benefit or harm of death itself, 2) the relationship between physician-assisted suicide and euthanasia and withholding or withdrawing life support, 3) the morality of a physician deliberately causing death, and 4) the management of conscientious objection related to physician-assisted suicide and euthanasia in the critical care setting...
February 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28098596/erythema-nodosum-leprosum-like-lesions-are-a-histopathologic-pattern-in-whipple-s-disease-and-a-sign-of-the-immune-reconstitution-inflammatory-syndrome-a-case-series-and-review-of-the-literature
#9
Julia Liersch, Agnès Carlotti, Anne Theunis, Alexandra Leonard, Mary Barrett, John Andrew Carlson, Jörg Schaller
Inflammatory and subcutaneous nodules can arise in treated and untreated cases of Whipple disease (WD). The inflammatory immune reconstitution syndrome describes paradoxical clinical inflammatory worsening of a preexisting condition because of a return of immune function. Clinicopathologic examination of 4 patients with WD who presented with erythema nodosum leprosum (ENL)-like lesions and the findings of a systematic review of this phenomenon revealed that ENL-like lesions occurred in predominantly middle-aged male patients who suffered from WD, mostly on the legs...
January 10, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28098591/surviving-sepsis-campaign-international-guidelines-for-management-of-sepsis-and-septic-shock-2016
#10
Andrew Rhodes, Laura E Evans, Waleed Alhazzani, Mitchell M Levy, Massimo Antonelli, Ricard Ferrer, Anand Kumar, Jonathan E Sevransky, Charles L Sprung, Mark E Nunnally, Bram Rochwerg, Gordon D Rubenfeld, Derek C Angus, Djillali Annane, Richard J Beale, Geoffrey J Bellinghan, Gordon R Bernard, Jean-Daniel Chiche, Craig Coopersmith, Daniel P De Backer, Craig J French, Seitaro Fujishima, Herwig Gerlach, Jorge Luis Hidalgo, Steven M Hollenberg, Alan E Jones, Dilip R Karnad, Ruth M Kleinpell, Younsuk Koh, Thiago Costa Lisboa, Flavia R Machado, John J Marini, John C Marshall, John E Mazuski, Lauralyn A McIntyre, Anthony S McLean, Sangeeta Mehta, Rui P Moreno, John Myburgh, Paolo Navalesi, Osamu Nishida, Tiffany M Osborn, Anders Perner, Colleen M Plunkett, Marco Ranieri, Christa A Schorr, Maureen A Seckel, Christopher W Seymour, Lisa Shieh, Khalid A Shukri, Steven Q Simpson, Mervyn Singer, B Taylor Thompson, Sean R Townsend, Thomas Van der Poll, Jean-Louis Vincent, W Joost Wiersinga, Janice L Zimmerman, R Phillip Dellinger
OBJECTIVE: To provide an update to "Surviving Sepsis Campaign Guidelines for Management of Sepsis and Septic Shock: 2012." DESIGN: A consensus committee of 55 international experts representing 25 international organizations was convened. Nominal groups were assembled at key international meetings (for those committee members attending the conference). A formal conflict-of-interest (COI) policy was developed at the onset of the process and enforced throughout. A stand-alone meeting was held for all panel members in December 2015...
January 17, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28098564/male-breast-cancer-originating-in-an-ectopic-breast-tissue-in-the-umbilicus-a-case-report
#11
Nikolaos Kopanakis, Olympia Tzaida, Georgios Nikolaou, Dimitrios Ermidis, Vassiliki Manou, Elias Efstathiou, John Spiliotis
INTRODUCTION: Accessory breast tissue is a rare finding in the general population with an incidence of 1-2%. Carcinomas of accessory breast tissue account for ∼0.3% of breast cancers, 5% of which are arising within a supernumerary breast. They are usually diagnosed at a later stage compared with breast cancer, due to their rarity and low clinical suspicion. CASE PRESENTATION: We present the case of a 58 years old male who was admitted to our hospital for an umbilical hernia, surgical repair...
November 4, 2016: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28098554/risk-factors-for-disseminated-coccidioidomycosis-united-states
#12
Camila D Odio, Beatriz E Marciano, John N Galgiani, Steven M Holland
Of 150,000 new coccidioidomycosis infections that occur annually in the United States, ≈1% disseminate; one third of those cases are fatal. Immunocompromised hosts have higher rates of dissemination. We identified 8 patients with disseminated coccidioidomycosis who had defects in the interleukin-12/interferon-γ and STAT3 axes, indicating that these are critical host defense pathways.
February 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28098543/increasing-antibiotic-resistance-in-shigella-spp-from-infected-new-york-city-residents-new-york-usa
#13
Kenya Murray, Vasudha Reddy, John S Kornblum, HaeNa Waechter, Ludwin F Chicaiza, Inessa Rubinstein, Sharon Balter, Sharon K Greene, Sarah L Braunstein, Jennifer L Rakeman, Catherine M Dentinger
Approximately 20% of Shigella isolates tested in New York City, New York, USA, during 2013-2015 displayed decreased azithromycin susceptibility. Case-patients were older and more frequently male and HIV infected than those with azithromycin-susceptible Shigella infection; 90% identified as men who have sex with men. Clinical interpretation guidelines for azithromycin resistance and outcome studies are needed.
February 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28098487/evaluating-the-performance-of-cart-based-missing-data-methods-under-a-missing-not-at-random-mechanism
#14
Timothy Hayes, John J McArdle
No abstract text is available yet for this article.
January 18, 2017: Multivariate Behavioral Research
https://www.readbyqxmd.com/read/28098452/a-perspective-on-crocus-sativus-l-saffron-constituent-corcin-a-potent-water-soluble-antioxidant-and-potential-therapy-for-alzheimer-s-disease
#15
John W Finley, Song Gao
Alzheimer's Disease (AD) is the most common form of dementia in which the death of brain cells causes memory loss and cognitive decline. Several factors are thought to play roles in the development and course of AD. Existing medical therapies only alleviate and delay cognitive symptoms. Current research has been focused on developing antibodies to remove the targets of β-amyloid (Aβ) and tau protein. This approach has achieved removal of A, however, no long term success to AD patients reported. The biological properties of saffron, the dry stigma of the plant Crocus sativus L...
January 18, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28098426/dapagliflozin-in-patients-with-type-1-diabetes-a-post-hoc-analysis-of-the-effect-of-insulin-dose-adjustments-on-24-hour-continuously-monitored-mean-glucose-and-fasting-beta-hydroxybutyrate-levels-from-a-phase-iia-pilot-study
#16
Robert R Henry, Paresh Dandona, Jeremy Pettus, Sunder Mudaliar, John Xu, Lars Hansen
AIMS: To investigate the effects of total daily insulin dose (TDD) reductions on 24-hour continuously monitored mean glucose and fasting beta-hydroxybutyrate (a marker for diabetic ketosis/ketoacidosis [DKA]) using patient-level data from a 14-day, pilot study of dapagliflozin in type 1 diabetes. MATERIALS AND METHODS: Exploratory correlation analysis was performed post-hoc to determine the relationship between change in TDD and a) 24-hour mean glucose (by continuous glucose monitoring) and b) fasting beta-hydroxybutyrate, in 70 patients with type 1 diabetes receiving insulin and dapagliflozin (1-, 2...
January 18, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28098412/a-hierarchical-modeling-approach-to-estimate-regional-acute-health-effects-of-particulate-matter-sources
#17
Jenna R Krall, Amber J Hackstadt, Roger D Peng
Exposure to particulate matter (PM) air pollution has been associated with a range of adverse health outcomes, including cardiovascular disease hospitalizations and other clinical parameters. Determining which sources of PM, such as traffic or industry, are most associated with adverse health outcomes could help guide future recommendations aimed at reducing harmful pollution exposure for susceptible individuals. Information obtained from multisite studies, which is generally more precise than information from a single location, is critical to understanding how PM impacts health and to informing local strategies for reducing individual-level PM exposure...
January 18, 2017: Statistics in Medicine
https://www.readbyqxmd.com/read/28098411/an-efficient-basket-trial-design
#18
Kristen M Cunanan, Alexia Iasonos, Ronglai Shen, Colin B Begg, Mithat Gönen
The landscape for early phase cancer clinical trials is changing dramatically because of the advent of targeted therapy. Increasingly, new drugs are designed to work against a target such as the presence of a specific tumor mutation. Because typically only a small proportion of cancer patients will possess the mutational target, but the mutation is present in many different cancers, a new class of basket trials is emerging, whereby the drug is tested simultaneously in different baskets, that is, subgroups of different tumor types...
January 18, 2017: Statistics in Medicine
https://www.readbyqxmd.com/read/28098410/juror-decision-making-in-death-penalty-sentencing-when-presented-with-defendant-s-history-of-child-abuse-or-neglect
#19
Lisa L Bell Holleran, Tyler J Vaughan, Donna M Vandiver
Previous studies have found aggravating, mitigating, and null effects of defendant histories of abuse and neglect on punishment preferences in capital sentencing. Perceiving these defendants as more dangerous, jurors may be more likely to favor the death penalty when such evidence is presented. This is counter to the intuition that abuse or neglect reduces culpability, and therefore mitigates the severity of punishment. We investigated the effect of defendant childhood physical abuse, sexual abuse, or neglect on the probability of a prospective juror preferring the death penalty in an between-subject experimental design...
January 18, 2017: Behavioral Sciences & the Law
https://www.readbyqxmd.com/read/28098397/regression-analysis-of-mixed-panel-count-data-with-dependent-terminal-events
#20
Guanglei Yu, Liang Zhu, Yang Li, Jianguo Sun, Leslie L Robison
Event history studies are commonly conducted in many fields, and a great deal of literature has been established for the analysis of the two types of data commonly arising from these studies: recurrent event data and panel count data. The former arises if all study subjects are followed continuously, while the latter means that each study subject is observed only at discrete time points. In reality, a third type of data, a mixture of the two types of the data earlier, may occur and furthermore, as with the first two types of the data, there may exist a dependent terminal event, which may preclude the occurrences of recurrent events of interest...
January 18, 2017: Statistics in Medicine
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