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https://www.readbyqxmd.com/read/29457789/a-common-variant-alters-scn5a-mir-24-interaction-and-associates-with-heart-failure-mortality
#1
Xiaoming Zhang, Jin-Young Yoon, Michael Morley, Jared M McLendon, Kranti A Mapuskar, Rebecca Gutmann, Haider Mehdi, Heather L Bloom, Samuel C Dudley, Patrick T Ellinor, Alaa A Shalaby, Raul Weiss, W H Wilson Tang, Christine S Moravec, Madhurmeet Singh, Anne L Taylor, Clyde W Yancy, Arthur M Feldman, Dennis M McNamara, Kaikobad Irani, Douglas R Spitz, Patrick Breheny, Kenneth B Margulies, Barry London, Ryan L Boudreau
SCN5A encodes the voltage-gated Na+ channel NaV1.5 that is responsible for depolarization of the cardiac action potential and rapid intercellular conduction. Mutations disrupting the SCN5A coding sequence cause inherited arrhythmias and cardiomyopathy, and single-nucleotide polymorphisms (SNPs) linked to SCN5A splicing, localization, and function associate with heart failure-related sudden cardiac death. However, the clinical relevance of SNPs that modulate SCN5A expression levels remains understudied. We recently generated a transcriptome-wide map of microRNA (miR) binding sites in human heart, evaluated their overlap with common SNPs, and identified a synonymous SNP (rs1805126) adjacent to a miR-24 site within the SCN5A coding sequence...
February 19, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29456523/g-protein-coupled-receptors-as-regulators-of-localized-translation-the-forgotten-pathway
#2
REVIEW
Aurélie Tréfier, Lucie P Pellissier, Astrid Musnier, Eric Reiter, Florian Guillou, Pascale Crépieux
G protein-coupled receptors (GPCRs) exert their physiological function by transducing a complex signaling network that coordinates gene expression and dictates the phenotype of highly differentiated cells. Much is known about the gene networks they transcriptionally regulate upon ligand exposure in a process that takes hours before a new protein is synthesized. However, far less is known about GPCR impact on the translational machinery and subsequent mRNA translation, although this gene regulation level alters the cell phenotype in a strikingly different timescale...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29456350/recurrent-glioblastomas-exhibit-higher-expression-of-biomarkers-with-stem-like-properties
#3
B N Nandeesh, Sharmistha Naskar, Arun H Shashtri, A Arivazhagan, Vani Santosh
Background: Despite advances in the treatment of glioblastoma (GBM), the prognosis of patients continues to remain dismal. This unfavorable prognosis is mainly attributed to the tumor's propensity for progression and recurrence, which in turn is due to the highly aggressive nature of the persisting GBM cells that actively egress from the main tumor mass into the surrounding normal brain tissue. Such a recurrent tumor described to have a more malignant potential is highly invasive and resistant to current therapies, probably due to increased stemness and preferential selection of therapy-resistant clones of tumor cells...
January 2018: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/29455267/reactive-arthritis-update-2018
#4
A García-Kutzbach, J Chacón-Súchite, H García-Ferrer, I Iraheta
At this time, reactive arthritis (ReA) is considered to be part of the spectrum of the spondyloarthritis, previously known as Reiter's syndrome, and refers to an infection induced systemic illness, characterized by a sterile synovitis occurring in a genetically predisposed individual, secondary to an infection localized in a distant organ/system, but also accompanied with multiple extra articular manifestations.
February 17, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29454577/morphological-clues-to-the-appropriate-recognition-of-hereditary-renal-neoplasms
#5
REVIEW
Holger Moch, Riuko Ohashi, Jatin S Gandhi, Mahul B Amin
An important emerging role of the surgical pathologist besides the traditional tasks of establishment of the diagnosis and documentation of prognostic and predictive factors, is to recognize the possibility of a hereditary condition in cases where the histology is suggestive for a familial cancer syndrome. In recent years, the knowledge regarding all of the above roles, including the role of recognition of familial cancer, has particularly expanded in renal neoplasms with the close scrutiny to morphology, molecular correlates and clinical features of the different sub-types of renal cell carcinoma...
February 14, 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29454337/the-second-patient-family-members-of-cancer-patients-and-their-role-in-end-of-life-decision-making
#6
Katsiaryna Laryionava, Timo A Pfeil, Mareike Dietrich, Stella Reiter-Theil, Wolfgang Hiddemann, Eva C Winkler
BACKGROUND: Family members are important companions of severely ill patients with cancer. However, studies about the desirability and difficulties of integrating relatives in the decision-making process are rare in oncology. This qualitative study explores the family role in decisions to limit treatment near the end of life from the professionals' point of view. METHODS: Qualitative in-depth interviews were conducted with oncologists (n = 12) and nurses (n = 6) working at the Department of Hematology/Oncology at the University Hospital in Munich, Germany...
February 17, 2018: BMC Palliative Care
https://www.readbyqxmd.com/read/29453582/the-clinical-phenotype-of-patients-positive-for-antibodies-to-myositis-and-myositis-related-disorders
#7
S G Gofrit, H Yonath, M Lidar, Y Shoenfeld, S Kivity
Inflammatory myopathies are a clinically diverse group of diseases, in which the detection of particular autoantibodies may facilitate diagnosis, treatment, and prognosis. The aim of this report is to summarize our experience with specific autoantibody testing in patients with inflammatory myopathies. Data were collected over the last decade in the Autoimmune Center of the Sheba Medical Center, a tertiary referral hospital. Data regarding patients' positive for autoantibodies against Jo-1, PL-7, PL-12, SRP, Mi-2, Ku, and PM-Scl antigens were retrospectively collected...
February 16, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29450823/nmr-resonance-assignments-of-rnase-p-protein-from-thermotoga-maritima
#8
Danyun Zeng, Benjamin P Brown, Markus W Voehler, Sheng Cai, Nicholas J Reiter
Ribonuclase P (RNase P) is an essential metallo-endonuclease that catalyzes 5' precursor-tRNA (ptRNA) processing and exists as an RNA-based enzyme in bacteria, archaea, and eukaryotes. In bacteria, a large catalytic RNA and a small protein component assemble to recognize and accurately cleave ptRNA and tRNA-like molecular scaffolds. Substrate recognition of ptRNA by bacterial RNase P requires RNA-RNA shape complementarity, intermolecular base pairing, and a dynamic protein-ptRNA binding interface. To gain insight into the binding specificity and dynamics of the bacterial protein-ptRNA interface, we report the backbone and side chain 1 H, 13 C, and 15 N resonance assignments of the hyperthermophilic Thermatoga maritima RNase P protein in solution at 318 K...
February 15, 2018: Biomolecular NMR Assignments
https://www.readbyqxmd.com/read/29449890/benefits-harms-and-evidence-reflections-from-uk-primary-healthcare
#9
Margaret McCartney
In this paper I examine the relationship between benefits, harms and evidence-based medicine in the context of British primary healthcare. First, I will examine: 'What is a benefit and what is a harm?' Second, what should we know about where the balance of risk and benefit appear to lie? Third, what should we do with this knowledge, particularly in the context of the biopsychosocial gaze of primary care? I conclude that even perfect knowledge about benefits and harms requires to be translated in the context of the individual patient: it also requires to be interpreted according to what that persons' wishes are...
January 2018: London Journal of Primary Care
https://www.readbyqxmd.com/read/29449453/conserved-and-divergent-features-of-human-and-mouse-kidney-organogenesis
#10
Nils O Lindström, Jill A McMahon, Jinjin Guo, Tracy Tran, Qiuyu Guo, Elisabeth Rutledge, Riana K Parvez, Gohar Saribekyan, Robert E Schuler, Christopher Liao, Albert D Kim, Ahmed Abdelhalim, Seth W Ruffins, Matthew E Thornton, Laurence Basking, Brendan Grubbs, Carl Kesselman, Andrew P McMahon
Human kidney function is underpinned by approximately 1,000,000 nephrons, although the number varies substantially, and low nephron number is linked to disease. Human kidney development initiates around 4 weeks of gestation and ends around 34-37 weeks of gestation. Over this period, a reiterative inductive process establishes the nephron complement. Studies have provided insightful anatomic descriptions of human kidney development, but the limited histologic views are not readily accessible to a broad audience...
February 15, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29447355/a-recurrent-de-novo-missense-mutation-in-ubtf-causes-developmental-neuroregression
#11
Camilo Toro, Roderick T Hori, May Christine V Malicdan, Cynthia J Tifft, Amy Goldstein, William A Gahl, David R Adams, Harper B Fauni, Lynne A Wolfe, Jianfeng Xiao, Mohammad M Khan, Jun Tian, Kevin A Hope, Lawrence T Reiter, Michel G Tremblay, Tom Moss, Alexis L Franks, Chris Balak, Mark S LeDoux
No abstract text is available yet for this article.
February 13, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29445611/immune-response-after-video-assisted-thoracic-surgery-in-non-small-cell-lung-cancer-patients
#12
Mirko Barone, Giuseppe Cipollone, Felice Mucilli
The effects of immunomodulation processes in patients undergoing video-assisted thoracic surgery (VATS) lobectomy are still debated; although, the reduced surgical stress of minimally invasive surgery is evident. The immunological repercussions could also influence the evolution of the disease and the prognosis of patients. The article aims to raise some points of reflection by considering available evidences and reiterating, once again, the prognostic utility of a minimally invasive procedure rather than classical approach...
2018: Journal of Visualized Surgery
https://www.readbyqxmd.com/read/29444583/barriers-to-a-healthy-lifestyle-for-three-to-four-year-old-children-of-australian-born-and-overseas-born-mothers-with-post-gestational-diabetes-an-australian-qualitative-study
#13
Tehzeeb Zulfiqar, Christopher J Nolan, Cathy Banwell, Rosemary Young, Lynelle Boisseau, Martha Ingle, Fiona E Lithander
Children of mothers affected by gestational diabetes mellitus (GDM) are at higher risk of long-term cardio-metabolic diseases. We explore the diet and physical activity knowledge and practices of Australian-born and overseas-born mothers with GDM history, for their three- to four-year-old children following antenatal health promotion education at a tertiary hospital. We conducted face-to-face, semi-structured interviews with 8 Australian-born and 15 overseas-born mothers with a history of GDM. Findings indicated that mothers of both groups were unaware of the increased health risks of their GDM for their children and could not recall receiving specific dietary or physical activity advice aimed at future child health...
January 1, 2018: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
https://www.readbyqxmd.com/read/29442164/diagnostic-flexible-pharyngo-laryngoscopy-development-of-a-procedure-specific-assessment-tool-using-a-delphi-methodology
#14
Jacob Melchiors, Mikael Johannes Vuokko Henriksen, Frederik G Dikkers, Javier Gavilán, J Pieter Noordzij, Marvin P Fried, Daniel Novakovic, Johannes Fagan, Birgitte W Charabi, Lars Konge, Christian von Buchwald
PURPOSE: Proper training and assessment of skill in flexible pharyngo-laryngoscopy are central in the education of otorhinolaryngologists. To facilitate an evidence-based approach to curriculum development in this field, a structured analysis of what constitutes flexible pharyngo-laryngoscopy is necessary. Our aim was to develop an assessment tool based on this analysis. METHODS: We conducted an international Delphi study involving experts from twelve countries in five continents...
February 13, 2018: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29439183/the-kit-and-pdgfra-switch-control-inhibitor-dcc-2618-blocks-growth-and-survival-of-multiple-neoplastic-cell-types-in-advanced-mastocytosis
#15
Mathias Schneeweiss, Barbara Peter, Siham Bibi, Gregor Eisenwort, Dubravka Smiljkovic, Katharina Blatt, Mohamad Jawhar, Daniela Berger, Gabriele Stefanzl, Susanne Herndlhofer, Georg Greiner, Gregor Hoermann, Emir Hadzijusufovic, Karoline V Gleixner, Peter Bettelheim, Klaus Geissler, Wolfgang R Sperr, Andreas Reiter, Michel Arock, Peter Valent
Systemic mastocytosis is a complex disease defined by abnormal growth and accumulation of neoplastic mast cells in various organs. Most patients exhibit a D816V-mutated variant of KIT, which confers resistance against imatinib. Clinical problems in systemic mastocytosis arise from mediator-related symptoms and/or organ destruction caused by malignant expansion of neoplastic mast cells and/or other myeloid cells in various organ systems. DCC-2618 is a spectrum-selective pan KIT and PDGFRA inhibitor which blocks KIT D816V and multiple other kinase-targets relevant to systemic mastocytosis...
February 8, 2018: Haematologica
https://www.readbyqxmd.com/read/29433936/microrna-219-reduces-viral-load-and-pathologic-changes-in-theiler-s-virus-induced-demyelinating-disease
#16
Ana Lis Moyano, Jeffrey Steplowski, Haibo Wang, Kyung-No Son, Diana I Rapolti, Jeffrey Marshall, Vince Elackattu, Michael S Marshall, Amy K Hebert, Cory R Reiter, Viviana Ulloa, Katarzyna C Pituch, Maria I Givogri, Q Richard Lu, Howard L Lipton, Ernesto R Bongarzone
Analysis of microRNA (miR) expression in the central nervous system white matter of SJL mice infected with the BeAn strain of Theiler's murine encephalomyelitis virus (TMEV) revealed a significant reduction of miR-219, a critical regulator of myelin assembly and repair. Restoration of miR-219 expression by intranasal administration of a synthetic miR-219 mimic before disease onset ameliorates clinical disease, reduces neurogliosis, and partially recovers motor and sensorimotor function by negatively regulating proinflammatory cytokines and virus RNA replication...
January 17, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29432489/forecasting-the-spatial-and-seasonal-dynamic-of-aedes-albopictus-oviposition-activity-in-albania-and-balkan-countries
#17
Clément Tisseuil, Enkelejda Velo, Silvia Bino, Perparim Kadriaj, Kujtim Mersini, Ada Shukullari, Artan Simaku, Elton Rogozi, Beniamino Caputo, Els Ducheyne, Alessandra Della Torre, Paul Reiter, Marius Gilbert
The increasing spread of the Asian tiger mosquito, Aedes albopictus, in Europe and US raises public health concern due to the species competence to transmit several exotic human arboviruses, among which dengue, chikungunya and Zika, and urges the development of suitable modeling approach to forecast the spatial and temporal distribution of the mosquito. Here we developed a dynamical species distribution modeling approach forecasting Ae. albopictus eggs abundance at high spatial (0.01 degree WGS84) and temporal (weekly) resolution over 10 Balkan countries, using temperature times series of Modis data products and altitude as input predictors...
February 12, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29432421/the-rate-and-potential-relevance-of-new-mutations-in-a-colonizing-plant-lineage
#18
Moises Exposito-Alonso, Claude Becker, Verena J Schuenemann, Ella Reiter, Claudia Setzer, Radka Slovak, Benjamin Brachi, Jörg Hagmann, Dominik G Grimm, Jiahui Chen, Wolfgang Busch, Joy Bergelson, Rob W Ness, Johannes Krause, Hernán A Burbano, Detlef Weigel
By following the evolution of populations that are initially genetically homogeneous, much can be learned about core biological principles. For example, it allows for detailed studies of the rate of emergence of de novo mutations and their change in frequency due to drift and selection. Unfortunately, in multicellular organisms with generation times of months or years, it is difficult to set up and carry out such experiments over many generations. An alternative is provided by "natural evolution experiments" that started from colonizations or invasions of new habitats by selfing lineages...
February 12, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29428440/melatonin-a-cutaneous-perspective-on-its-production-metabolism-and-functions
#19
REVIEW
Andrzej T Slominski, Ruediger Hardeland, Michal A Zmijewski, Radomir M Slominski, Russel J Reiter, Ralf Paus
Melatonin, an evolutionarily ancient derivative of serotonin with hormonal properties, is the main neuroendocrine secretory product of the pineal gland. Although melatonin is best known to regulate circadian rhythmicity and lower vertebrate skin pigmentation, the full spectrum of functional activities of this free radical-scavenging molecule, which also induces/promotes complex antioxidative and DNA repair systems, includes immunomodulatory, thermoregulatory, and antitumor properties. Because this plethora of functional melatonin properties still awaits to be fully appreciated by dermatologists, the current review synthesizes the main features that render melatonin a promising candidate for the management of several dermatoses associated with substantial oxidative damage...
February 7, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29427301/prospective-validation-and-refinement-of-a-decision-rule-to-obtain-cxr-in-patients-with-non-traumatic-chest-pain-in-the-ed
#20
Case Newsom, Rebecca Jeanmonod, Wendy Woolley, Nirali Shah, Shellie Asher, Eric Bruno, Michael Silberman, Mark Reiter, Donald Jeanmonod
OBJECTIVES: To prospectively validate and refine previously published criteria to determine the potential utility of chest x-ray (CXR) in the evaluation and management of patients presenting to the emergency department (ED) with non-traumatic chest pain. METHODS: A prospective observational study was performed of patients presenting to three EDs in the US with a chief complaint of non-traumatic chest pain. Previously defined high-risk history and exam elements were combined into a refined decision rule and these elements were recorded for each patient by the ED physician...
February 10, 2018: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
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