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https://www.readbyqxmd.com/read/29439875/consensus-document-on-the-implementation-of-next-generation-sequencing-in-the-genetic-diagnosis-of-hereditary-cancer
#1
José Luis Soto, Ignacio Blanco, Orland Díez, Javier García Planells, Isabel Lorda, Gert Matthijs, Mercedes Robledo, Erika Souche, Conxi Lázaro
Genetic diagnosis of hereditary cancer syndromes offers the opportunity to establish more effective predictive and preventive measures for the patient and their families. The ultimate objective is to decrease cancer morbidity and mortality in high genetic risk families. Next Generation Sequencing (NGS) offers an important improvement in the efficiency of genetic diagnosis, allowing an increase in diagnostic yield with a substantial reduction in response times and economic costs. Consequently, the implementation of this new technology is a great opportunity for improvement in the clinical management of affected families...
February 10, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29427552/quality-and-future-of-clinical-laboratories-the-vico-s-whole-cyclical-theory-of-the-recurring-cycles
#2
Mario Plebani
In the last few decades, laboratory medicine has undergone monumental changes, and laboratory technology, which has made enormous advances, now has new clinical applications thanks to the identification of a growing number of biomarkers and risk factors conducive to the promotion of predictive and preventive interventions that have enhanced the role of laboratory medicine in health care delivering. However, the paradigm shift in the past 50 years has led to a gap between laboratory and clinic, with an increased risk of inappropriateness in test request and interpretation, as well as the consolidation of analytical work in focused factories and megastructurers oriented only toward achieving greater volumes, decreasing cost per test and generating a vision of laboratory services as simple commodities...
February 10, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29425378/government-cloud-computing-policies-potential-opportunities-for-advancing-military-biomedical-research
#3
Frank J Lebeda, Jeffrey J Zalatoris, Julia B Scheerer
Introduction: This position paper summarizes the development and the present status of Department of Defense (DoD) and other government policies and guidances regarding cloud computing services. Due to the heterogeneous and growing biomedical big datasets, cloud computing services offer an opportunity to mitigate the associated storage and analysis requirements. Having on-demand network access to a shared pool of flexible computing resources creates a consolidated system that should reduce potential duplications of effort in military biomedical research...
February 7, 2018: Military Medicine
https://www.readbyqxmd.com/read/29386890/phenotyping-copd-exacerbations-using-imaging-and-blood-based-biomarkers
#4
Nawaf M Alotaibi, Virginia Chen, Zsuzsanna Hollander, Cameron J Hague, Darra T Murphy, Jonathon A Leipsic, Mari L DeMarco, J Mark FitzGerald, Bruce M McManus, Raymond T Ng, Don D Sin
Rationale: Acute exacerbations of chronic obstructive pulmonary disease (AECOPD) are caused by a variety of different etiologic agents. Our aim was to phenotype COPD exacerbations using imaging (chest X-ray [CXR] and computed tomography [CT]) and to determine the possible role of the blood tests (C-reactive protein [CRP], the N-terminal prohormone brain natriuretic peptide [NT-proBNP]) as diagnostic biomarkers. Materials and methods: Subjects who were hospitalized with a primary diagnosis of AECOPD and who had had CXRs, CT scans, and blood collection for CRP and NT-proBNP were assessed in this study...
2018: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/29380127/pathologist-s-assistant-patha-and-his-her-role-in-the-surgical-pathology-department-a-systematic-review-and-a-narrative-synthesis
#5
M Bortesi, V Martino, M Marchetti, A Cavazza, G Gardini, E Zanetti, M C Bassi, L Ghirotto, M Costantini, Simonetta Piana
In recent decades, various highly qualified individuals have increasingly performed tasks that have historically been handled by physicians with the aim of reducing their workload. Over time, however, these "physician assistants" or "physician extenders" have gained more and more responsibilities, showing that specific tasks can be performed equally skilfully by specialised health care professionals. The pathologist's assistant (PathA) is a highly qualified technician who works alongside the pathologist and is responsible for the grossing and autopsies...
January 29, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29357046/translational-neonatology-research-transformative-encounters-across-species-and-disciplines
#6
Mie S Dam, Per T Sangild, Mette N Svendsen
This paper explores the laborious and intimate work of turning bodies of research animals into models of human patients. Based on ethnographic research in the interdisciplinary Danish research centre NEOMUNE, we investigate collaboration across species and disciplines, in research aiming at improving survival for preterm infants. NEOMUNE experimental studies on piglets evolved as a platform on which both basic and clinical scientists exercised professional authority. Guided by the field of multi-species research, we explore the social and material agency of research animals in the production of human health...
January 22, 2018: History and Philosophy of the Life Sciences
https://www.readbyqxmd.com/read/29352032/the-surprising-subtleties-of-changing-fear-memory-a-challenge-for-translational-science
#7
REVIEW
Merel Kindt
Current pharmacological and psychological treatments for disorders of emotional memory only dampen the affective response while leaving the original fear memory intact. Under adverse circumstances, these original memories regain prominence, causing relapses in many patients. The (re)discovery in neuroscience that after reactivation consolidated fear memories may return to a transient labile state, requiring a process of restabilization in order to persist, offers a window of opportunity for modifying fear memories with amnestic agents...
March 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29337314/the-reconstruction-of-2-631-draft-metagenome-assembled-genomes-from-the-global-oceans
#8
Benjamin J Tully, Elaina D Graham, John F Heidelberg
Microorganisms play a crucial role in mediating global biogeochemical cycles in the marine environment. By reconstructing the genomes of environmental organisms through metagenomics, researchers are able to study the metabolic potential of Bacteria and Archaea that are resistant to isolation in the laboratory. Utilizing the large metagenomic dataset generated from 234 samples collected during the Tara Oceans circumnavigation expedition, we were able to assemble 102 billion paired-end reads into 562 million contigs, which in turn were co-assembled and consolidated in to 7...
January 16, 2018: Scientific Data
https://www.readbyqxmd.com/read/29249946/moderate-partially-reduplicated-conditioned-stimuli-as-retrieval-cue-can-increase-effect-on-preventing-relapse-of-fear-to-compound-stimuli
#9
Junjiao Li, Wei Chen, Jingwen Caoyang, Wenli Wu, Jing Jie, Liang Xu, Xifu Zheng
The theory of memory reconsolidation argues that consolidated memory is not unchangeable. Once a memory is reactivated it may go back into an unstable state and need new protein synthesis to be consolidated again, which is called "memory reconsolidation". Boundary studies have shown that interfering with reconsolidation through pharmacologic or behavioral intervention can lead to the updating of the initial memory, for example, erasing undesired memories. Behavioral procedures based on memory reconsolidation interference have been shown to be an effective way to inhibit fear memory relapse after extinction...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/29246145/legionella-pneumonia-due-to-non-legionella-pneumophila-serogroup-1-usefulness-of-the-six-point-scoring-system
#10
Akihiro Ito, Tadashi Ishida, Yasuyoshi Washio, Akio Yamazaki, Hiromasa Tachibana
BACKGROUND: Because of a limited number of reports, we aimed to investigate the clinical characteristics of patients with Legionella pneumonia due to non-Legionella pneumophila serogroup 1 and the diagnostic usefulness of the six-point scoring system for such patients compared with patients with pneumonia caused by L. pneumophila serogroup 1. METHODS: We retrospectively analysed patients diagnosed with Legionella pneumonia due to non-L. pneumophila serogroup 1 between March 2001 and June 2016...
December 16, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29209590/risk-factors-for-community-acquired-pneumonia-among-adults-in-kenya-a-case-control-study
#11
Esther Muthumbi, Brett S Lowe, Cyprian Muyodi, Esther Getambu, Fergus Gleeson, J Anthony G Scott
Background: Pneumonia is a leading cause of morbidity and mortality among adults worldwide; however, the risk factors for community-acquired pneumonia in Africa are not well characterized. Methods: The authors recruited 281 cases of community-acquired pneumonia and 1202 hospital controls among patients aged ≥15 years who attended Kilifi District Hospital/Coast Provincial General Hospital in Kenya between 1994 and 6. Cases were admissions with an acute illness with ≥2 respiratory signs and evidence of consolidation on a chest radiograph...
2017: Pneumonia
https://www.readbyqxmd.com/read/29200789/pharmacovigilance-a-public-health-priority-for-south-africa
#12
Ushma Mehta, Emma Kalk, Andrew Boulle, Portia Nkambule, Joey Gouws, Helen Rees, Karen Cohen
South Africa has been engaged in pharmacovigilance (PV) activities to assess the impact of adverse drug reactions on public safety and health for 40 years. Activities have evolved from passive regulatory reporting to encompass active surveillance systems. The HIV and AIDS and TB epidemics stimulated pharmacoepidemiological research into the risks associated with medicines used in the standardised regimens of mass treatment programmes. Specific safety concerns, supported by robust local cohort data, have prompted major changes to national and international treatment policies...
2017: South African Health Review
https://www.readbyqxmd.com/read/29198599/who-is-the-boss-individual-recognition-memory-and-social-hierarchy-formation-in-crayfish
#13
Nayeli Jiménez-Morales, Karina Mendoza-Ángeles, Mercedes Porras-Villalobos, Elizabeth Ibarra-Coronado, Gabriel Roldán-Roldán, Jesús Hernández-Falcón
Under laboratory conditions, crayfish establish hierarchical orders through agonistic encounters whose outcome defines the dominant one and one, or more, submissive animals. These agonistic encounters are ritualistic, based on threats, pushes, attacks, grabs, and avoidance behaviors that include retreats and escape responses. Agonistic behavior in a triad of unfamiliar, size-matched animals is intense on the first day of social interaction and the intensity fades on daily repetitions. The dominant animal keeps its status for long periods, and the submissive ones seem to remember 'who the boss is'...
December 2, 2017: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29189609/introduction-of-routine-hiv-birth-testing-in-the-south-african-national-consolidated-guidelines
#14
Faith Moyo, Ahmad Haeri Mazanderani, Peter Barron, Sanjana Bhardwaj, Ameena Ebrahim Goga, Yogan Pillay, Gayle Gillian Sherman
BACKGROUND: South Africa represents the first high-burden setting to introduce routine virological testing at birth within its early infant diagnosis program, implemented in June 2015. National HIV birth testing coverage, intra-uterine transmission rates and case rates for the first year since introduction of universal birth testing are reported. METHODS: HIV polymerase chain reaction (PCR) test data from June 2015 to May 2016 were extracted from the National Health Laboratory Service's central data repository by year, month, age, result and geographic location...
November 15, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29159658/lung-necrosectomy-in-pediatric-patients-with-necrotizing-pneumonia
#15
Francina V Bolaños-Morales, Emmanuel Peña Gómez-Portugal, María E Aguilar-Mena, Patricio J Santillán-Doherty, Avelina Sotres-Vega, J Alfredo Santibáñez-Salgado
INTRODUCTION: Necrotizing pneumonia is the consolidation of lung parenchyma with destruction and necrosis, forming solitary or multiloculated radiolucent foci. When antibiotic treatment fails and clinical course does not improve, patients might need lung tissue resection: segmentectomy, lobectomy or bilobectomy. We have performed a more conservative surgical approach in pediatric patients with necrotizing pneumonia, lung necrosectomy: resection of unviable necrotic tissue, to preserve more healthy and potentially recoverable lung parenchyma...
November 20, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29155095/behavioral-and-neural-mechanisms-by-which-prior-experience-impacts-subsequent-learning
#16
Ryan G Parsons
Memory is often thought about in terms of its ability to recollect and store information about the past, but its function likely rests with the fact that it permits adaptation to ongoing and future experience. Thus, the brain circuitry that encodes memory must act as if stored information is likely to be modified by subsequent experience. Considerable progress has been made in identifying the behavioral and neural mechanisms supporting the acquisition and consolidation of memories, but this knowledge comes largely from studies in laboratory animals in which the training experience is presented in isolation from prior experimentally-controlled events...
November 16, 2017: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29141959/an-integrative-strategy-to-identify-the-entire-protein-coding-potential-of-prokaryotic-genomes-by-proteogenomics
#17
Ulrich Omasits, Adithi R Varadarajan, Michael Schmid, Sandra Goetze, Damianos Melidis, Marc Bourqui, Olga Nikolayeva, Maxime Québatte, Andrea Patrignani, Christoph Dehio, Juerg E Frey, Mark D Robinson, Bernd Wollscheid, Christian H Ahrens
Accurate annotation of all protein-coding sequences (CDSs) is an essential prerequisite to fully exploit the rapidly growing repertoire of completely sequenced prokaryotic genomes. However, large discrepancies among the number of CDSs annotated by different resources, missed functional short open reading frames (sORFs), and overprediction of spurious ORFs represent serious limitations. Our strategy toward accurate and complete genome annotation consolidates CDSs from multiple reference annotation resources, ab initio gene prediction algorithms and in silico ORFs (a modified six-frame translation considering alternative start codons) in an integrated proteogenomics database (iPtgxDB) that covers the entire protein-coding potential of a prokaryotic genome...
December 2017: Genome Research
https://www.readbyqxmd.com/read/29052351/analysis-of-the-clinical-features-of-invasive-bronchopulmonary-aspergillosis
#18
Yueqin Cao, Changzhou Shao, Yuanlin Song
INTRODUCTION: Early diagnosis of invasive bronchopulmonary aspergillosis (IBPA) is difficult, so the mortality rate is high. OBJECTIVE: To discuss the clinical features of IBPA. METHODS: We retrospectively analyzed the clinical features, imaging findings, laboratory test, diagnosis and treatment of 115 patients with IBPA diagnosed from October 2004 to June 2013 in Zhongshan Hospital, Fudan University. RESULTS: The main clinical manifestations were cough in 58 patients (50...
October 20, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/29049239/clinical-features-and-diagnosis-of-chronic-pulmonary-aspergillosis-in-chinese-patients
#19
Xiaomeng Hou, Hong Zhang, Lei Kou, Wei Lv, Jingjing Lu, Ji Li
Chronic pulmonary aspergillosis (CPA) has recently been recognized as a significant global health burden. In China, the diagnosis of CPA is still unfamiliar to most doctors. The aim of this study was to demonstrate the clinical manifestations and diagnoses of CPA in China.A multidisciplinary team of doctors retrospectively screened 690 records of patients diagnosed with pulmonary aspergillosis from January 2000 to December 2016 at Peking Union Medical College Hospital, Beijing, China. Of these, 69 patients were diagnosed with CPA...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28966493/clinical-manifestations-of-nocardiosis-study-of-risk-factors-and-outcomes-in-a-tertiary-care-hospital
#20
Teena Wadhwa, Usha Baveja, Navin Kumar, Deepak Govil, Sharmila Sengupta
PURPOSE: The aim of this study is to evaluate the predisposing risk factors, clinical presentations, laboratory parameters, and treatments taken and outcomes in patients of nocardiosis in the span of 5 years in a tertiary care hospital. MATERIALS AND METHODS: The patients whose specimens showed Nocardia like organism in Gram-staining, Kinyoun staining and characteristic colonies in culture were included in the retrospective analysis study. Retrospective analysis of associated risk factors, clinical presentations, and radiological findings was performed...
October 2017: Journal of Laboratory Physicians
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