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Costs genetic testing

J V Olsen, F F Calvo-Artavia, P Sandøe, N Toft
Due to an increased incidence of human infections, livestock-associated methicillin-resistant Staphylococcus Aureus (LA-MRSA) in pigs and its spread into the human population has been a major public and political issue in Denmark. Similar concerns are also being raised about LA-MRSA in other Western European countries. At a time when the proportion of LA-MRSA-positive pig farms was low, Norway adopted a 'trace and destroy' strategy aimed at keeping LA-MRSA out of the pig population. However, to date, no country with a high proportion of LA-MRSA-positive pig herds has chosen to use an eradication strategy...
October 1, 2018: Preventive Veterinary Medicine
Karen E DeMatteo, Linsey W Blake, Julie K Young, Barbara Davenport
Detection dogs, specially trained domestic dogs (Canis familiaris), have become a valuable, noninvasive, conservation tool because they remove the dependence of attracting species to a particular location. Further, detection dogs locate samples independent of appearance, composition, or visibility allowing researchers to collect large sets of unbiased samples that can be used in complex ecological queries. One question not fully addressed is why samples from nontarget species are inadvertently collected during detection dog surveys...
September 14, 2018: Scientific Reports
Ann F Chou, John Mulvihill, Celia Kaye, Sylvia Mann, Marc S Williams, Lori Williamson
PURPOSE: The Institute of Medicine recommended the utilization of metrics to improve quality in health care, although they have rarely been used in genetics. This study developed and tested a set of metrics for a quality assessment tool for genetic services METHODS: A systematic review of literature, guidelines, and consensus statements identified candidate measures for a possible assessment tool. An expert panel conducted a modified Delphi technique to rank the metrics. Ratings were computed to generate a score for each metric, creating a set of metrics for consensus discussions, pilot testing, and feasibility testing in eight Midwestern states...
September 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Georgia Sarquella-Brugada, Sergi Cesar, Maria Dolores Zambrano, Anna Fernandez-Falgueras, Victoria Fiol, Anna Iglesias, Francesc Torres, Oscar Garcia-Algar, Elena Arbelo, Josep Brugada, Ramon Brugada, Oscar Campuzano
BACKGROUND: Sudden death of a newborn is a rare entity, which may be caused by genetic cardiac arrhythmias. Among these diseases, Long QT syndrome is the most prevalent arrhythmia in neonates, but other diseases such as Brugada syndrome, Short QT syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia also cause sudden death in infants. All these entities are characterized by well-known alterations in the electrocardiogram and the first symptom of the disease may be an unexpected death...
September 12, 2018: Current Cardiology Reviews
M P Sanchez, M El Jabri, S Minéry, V Wolf, E Beuvier, C Laithier, A Delacroix-Buchet, M Brochard, D Boichard
Cheese-making properties of pressed cooked cheeses (PCC) and soft cheeses (SC) were predicted from mid-infrared (MIR) spectra. The traits that were best predicted by MIR spectra (as determined by comparison with reference measurements) were 3 measures of laboratory cheese yield, 5 coagulation traits, and 1 acidification trait for PCC (initial pH; pH0 PPC ). Coefficients of determination of these traits ranged between 0.54 and 0.89. These 9 traits as well as milk composition traits (fatty acid, protein, mineral, lactose, and citrate content) were then predicted from 1,100,238 MIR spectra from 126,873 primiparous Montbéliarde cows...
September 6, 2018: Journal of Dairy Science
Emanuela Ponzi, Arianna Maiorana, Francesca Romana Lepri, Mafalda Mucciolo, Michela Semeraro, Roberta Taurisano, Giorgia Olivieri, Antonio Novelli, Carlo Dionisi-Vici
OBJECTIVES: To evaluate the role of next generation sequencing in genetic diagnosis of pediatric patients with persistent hypoglycemia. STUDY DESIGN: Sixty-four patients investigated through an extensive workup were divided in 3 diagnostic classes based on the likelihood of a genetic diagnosis: (1) single candidate gene (9/64); (2) multiple candidate genes (43/64); and (3) no candidate gene (12/64). Subsequently, patients were tested through a custom gene panel of 65 targeted genes, which included 5 disease categories: (1) hyperinsulinemic hypoglycemia, (2) fatty acid-oxidation defects and ketogenesis defects, (3) ketolysis defects, (4) glycogen storage diseases and other disorders of carbohydrate metabolism, and (5) mitochondrial disorders...
September 5, 2018: Journal of Pediatrics
Julia Sophie Schneider, Angela Gasse, Marianne Schürenkamp, Ursula Sibbing, Sabrina Banken, Heidi Pfeiffer, Jennifer Schürenkamp, Marielle Vennemann
We present a novel multiplex assay for the simultaneous detection of 12 polymorphisms within the UGT1A9 sequence, which codes for enzymes involved in phase II biotransformation. The assay combines a multiplexed amplification step with single-base extension sequencing. The method described here is fast, cost-effective, and easy-to-use, combining the relevant features of screening methods for research and diagnostics in pharmacogenetics. To validate the assay, we tested reproducibility and sensitivity and analysed allele frequencies of 110 Caucasian individuals...
September 6, 2018: International Journal of Legal Medicine
McKenna J Penley, Arielle B Greenberg, Arooj Khalid, Sathvik R Namburar, Levi T Morran
Host susceptibility to parasites can vary over space and time. Costs associated with the maintenance of host defense are thought to account for a portion of this variation. Specifically, tradeoffs wherein elevated defense is maintained at the cost of fitness in the absence of the parasite may cause levels of host defense to change over time and differ between populations. In previous studies we found that populations of the host nematode, Caenorhabditis elegans evolved greater levels of parasite avoidance and resistance against the bacterial parasite, Serratia marcescens...
September 6, 2018: Journal of Evolutionary Biology
Juan de Toro-Martín, Frédéric Guénard, André Tchernof, Louis Pérusse, Simon Marceau, Marie-Claude Vohl
BACKGROUND: The extent of weight loss among patients undergoing bariatric surgery is highly variable. Herein, we tested the contribution of genetic background to such interindividual variability after biliopancreatic diversion with duodenal switch. METHODS: Percentage of excess body weight loss (%EBWL) was monitored in 865 patients over a period of 48 months after bariatric surgery, and two polygenic risk scores were constructed with 186 and 11 (PRS186 and PRS11) single nucleotide polymorphisms previously associated with body mass index (BMI)...
September 6, 2018: JCI Insight
Christine Peyron, Aurore Pélissier, Sophie Béjean
The information to which whole genome sequencing (WGS) provides access raises questions about its disclosure to patients. The literature focused on the nature of findings, shows patients share the same expectations while evoking possible heterogeneity. Our objective is to test this hypothesis of preference heterogeneity with respect to the disclosure of results from WGS by means of a discrete choice experiment (DCE). Our DCE includes six attributes for studying preferences with respect to (1) variants of unknown significance and (2) secondary findings, and more innovatively with respect to (3) repeat analysis of the tests, (4) the decision-making process, (5) patient support and (6) the cost of testing...
August 21, 2018: Social Science & Medicine
Océane Seudre, Alice Namias, Olivia Gardella, Guillaume Da Silva, Pierre-Henri Gouyon, Manuela López-Villavicencio
Most species able to reproduce both sexually and asexually (facultative sexual species) invest more in sexual reproduction in stressful environment conditions. According to the abandon-ship hypothesis, plasticity for investment in sexual reproduction may have been selected in these species, allowing unfit genotypes to generate progeny carrying new advantageous allelic combinations. We tested this hypothesis in Aspergillus nidulans, a fungus able to reproduce asexually, or sexually, by outcrossing and/or haploid selfing (i...
September 1, 2018: Fungal Genetics and Biology: FG & B
Teresa N Sparks, Aaron B Caughey
In January 2017, a group of experts in prenatal genetics attended a workshop at the Society of Maternal-Fetal Medicine meeting to review the evidence behind the costs and cost-effectiveness of prenatal genetic testing. Over the past decade, prenatal genetic testing options have dramatically expanded to include additional options with cell-free DNA (cfDNA) screening, as well as increased diagnostic abilities through chromosomal microarray analysis (CMA), gene panels, whole exome sequencing, and other tests. With these expanding technologies, it is important to consider the options available as well as the cost effectiveness of their use...
July 26, 2018: Seminars in Perinatology
Tejal Aslesh, Rika Maruyama, Toshifumi Yokota
Spinal muscular atrophy (SMA) is the most common genetic cause of infantile death caused by mutations in the SMN1 gene. Nusinersen (Spinraza), an antisense therapy-based drug with the 2'-methoxyethoxy (2'MOE) chemistry approved by the FDA in 2016, brought antisense drugs into the spotlight. Antisense-mediated exon inclusion targeting SMN2 leads to SMN protein expression. Although effective, 2'MOE has weaknesses such as the inability to cross the blood-brain barrier and the high cost of treatment. To investigate new chemistries of antisense oligonucleotides (ASOs), SMA mouse models can serve as an important source...
2018: Methods in Molecular Biology
Rani Diana Sahni, Dilip Mathai, Thambu David Sudarsanam, V Balaji, K N Brahamadathan, Mary V Jesudasan, M K Lalitha
Background and Objectives: Discovered in 1983, Extended spectrum beta-lactamase (ESBL) producers are still the leading cause of infections in India. Its prompt detection is crucial to the clinical management. The Clinical Laboratory Standards Institute (CLSI) recommends phenotypic screening and confirmatory tests to identify the ESBL producer making it cost and time consuming for the diagnostic laboratory. We compare here the screening and confirmatory tests offering a solution to the CLSI recommendation...
July 2018: Journal of Global Infectious Diseases
Matthew B Lanktree, Ioan-Andrei Iliuta, Amirreza Haghighi, Xuewen Song, York Pei
Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by mutations of two genes, PKD1 and PKD2. In the presence of a positive family history of ADPKD, genetic testing is currently seldom indicated as the diagnosis is mostly based on imaging studies using well-established criteria. Moreover, PKD1 mutation screening is technically challenging due to its large size, complexity (i.e. presence of six pseudogenes with high levels of DNA sequence similarity) and extensive allelic heterogeneity. Despite these limitations, recent studies have delineated a strong genotype-phenotype correlation in ADPKD and begun to unravel the role of genetics underlying cases with atypical phenotypes...
August 27, 2018: Nephrology, Dialysis, Transplantation
Pãmela Rodrigues de Souza Silva, Cinthia Elim Jannes, Theo G M Oliveira, Luz Marina Gómez Gómez, José E Krieger, Raul D Santos, Alexandre Costa Pereira
BACKGROUND: Genetic cascade screening is the most cost-effective method for the identification of individuals with familial hypercholesterolemia (FH), but the best strategies for the enrollment of at-risk individuals in a FH screening program are not fully known. OBJECTIVE: The aim of this study is to identify the best predictors of familial enrollment into genetic screening, using features derived from tested probands. METHODS: One hundred and eighty-three index-cases (ICs) with a positive genetic result that had relatives screened from 01/2011 to 07/2015 were included...
August 23, 2018: Arquivos Brasileiros de Cardiologia
Miklós Bálint, Carsten Nowak, Orsolya Márton, Steffen U Pauls, Claudia Wittwer, José Luis Aramayo, Arne Schulze, Thierry Chambert, Berardino Cocchiararo, Martin Jansen
Rapid environmental change in highly biodiverse tropical regions demands efficient biomonitoring programmes. While existing metrics of species diversity and community composition rely on encounter-based survey data, eDNA recently emerged as alternative approach. Costs and ecological value of eDNA-based methods have rarely been evaluated in tropical regions, where high species richness is accompanied by high functional diversity (e.g., the use of different microhabitats by different species and life stages)...
August 29, 2018: Molecular Ecology Resources
Stacey M Trevathan-Tackett, Sarah Treby, Frank H Gleason, Peter I Macreadie, Stella Loke
Marine heterotrophic protists of the Labyrinthulomycota are of interest for their biotechnological (e.g. thraustochytrid production of lipids) and ecological (e.g. wasting disease and rapid blight by pathogens of the genus Labyrinthula) applications; culture-based laboratory studies are a central technique of this research. However, maintaining such microorganism cultures can be labour- and cost-intensive, with a high risk of culture contamination and die-off over time. Deep-freeze storage, or cryopreservation, can be used to maintain culture back-ups, as well as to preserve the genetic and phenotypic properties of the microorganisms; however, this method has not been tested for the ubiquitous marine protists Labyrinthula spp...
August 28, 2018: Diseases of Aquatic Organisms
Lydia Bousset, Susan J Sprague, Peter H Thrall, Luke G Barrett
Genetic, physiological and physical homogenization of agricultural landscapes creates ideal environments for plant pathogens to proliferate and rapidly evolve. Thus, a critical challenge in plant pathology and epidemiology is to design durable and effective strategies to protect cropping systems from damage caused by pathogens. Theoretical studies suggest that spatio-temporal variation in the diversity and distribution of resistant hosts across agricultural landscapes may have strong effects on the epidemiology and evolutionary potential of crop pathogens...
September 2018: Evolutionary Applications
Hassan Vahidnezhad, Leila Youssefian, Ali Jazayeri, Jouni Uitto
Homozygosity mapping (HM), also known as autozygosity mapping, was originally used to map genes underlying homozygous autosomal recessive Mendelian diseases in patients from closely genetically related populations, followed by Sanger sequencing. With the increase in use of next-generation sequencing approaches, such as whole-exome sequencing and whole-genome sequencing, together with advanced bioinformatics filtering approaches, HM is again emerging as a powerful method for the identification of genes involved in disease etiology...
September 2018: Journal of Investigative Dermatology
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