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Appropriate use criteria genetics

Alessandro Stella, Fabiana Cortellessa, Giuseppe Scaccianoce, Barbara Pivetta, Enrica Settimo, Piero Portincasa
Objective: FMF is an inherited autoinflammatory syndrome, characterized by attacks of painful periodic fever caused by diffuse serositis and risk of secondary amyloidosis due to IL-1β-mediated inflammation. The disease appears to be transmitted through autosomal recessive mutations in the MEFV gene encoding the pyrin protein Although more than 300 variants have been reported worldwide so far, their association with symptom severity, the relative frequencies in different populations and the disease penetrance are far from being completely understood...
November 23, 2018: Rheumatology
Rafael S Bressan, Guilherme Camargo, Pedro Henrique Bugatti, Priscila Tiemi Maeda Saito
Nowadays there is an abundance of biomedical data, such as images, genetic sequences, among others. However, there is a lack of annotation to such volume of data, due to the high costs involved to perform this task. Thus it is mandatory to develop techniques to ease the burden of human annotation. To reach such goal active learning strategies can be applied. However, the state-of-the-art active learning methods, generally, are not feasible to lead with real-world datasets. Another important issue, that is generally neglected by these methods, is related to the conception that the classifier tends to learn more and more at each iteration...
November 13, 2018: IEEE Journal of Biomedical and Health Informatics
Prakash G Patil, Abhishek Bohra, Naik S J Satheesh, Jyotirmay Dubey, Praveen Pandey, Dibendu Dutta, Farindra Singh, I P Singh, N P Singh
Pigeonpea productivity is greatly constrained by poor plant ideotype of existing Indian cultivars. Enhancing pigeonpea yield demands a renewed focus on restructuring the ideal plant type by using more efficient approaches like genomic tools. Therefore, the present study aims to identify and validate a set of QTLs/gene(s) presumably associated with various plant ideotype traits in pigeonpea. A total of 133 pigeonpea germplasms were evaluated along with four checks in the augmented design for various ideotype traits i...
November 2018: Physiology and Molecular Biology of Plants: An International Journal of Functional Plant Biology
Ranjit Manchanda, Faiza Gaba
The current clinical model for genetic testing is based on clinical-criteria/family-history (FH) and a pre-defined mutation probability threshold. It requires people to develop cancer before identifying unaffected individuals in the family to target prevention. This process is inefficient, resource intensive and misses >50% of individuals or mutation carriers at risk. Population genetic-testing can overcome these limitations. It is technically feasible to test populations on a large scale; genetic-testing costs are falling and acceptability and awareness are rising...
November 5, 2018: Cancers
M R Schisler, B B Gollapudi, M M Moore
The forward gene mutation mouse lymphoma assay (MLA) is widely used, as part of a regulatory test battery, to identify the genotoxic potential of chemicals. It identifies mutagens capable of inducing a variety of genetic events. During the 1980s and early 1990s, the U.S. National Toxicology Program (NTP) developed a publicly available database ( of MLA results. This database is used to define the mutagenic potential of chemicals, to develop structure-activity relationships (SAR), and to draw correlations to animal carcinogenicity findings...
October 25, 2018: Environmental and Molecular Mutagenesis
Liubov S Arbeeva, Heidi A Hanson, Konstantin G Arbeev, Alexander M Kulminski, Eric Stallard, Svetlana V Ukraintseva, Deqing Wu, Robert M Boudreau, Michael A Province, Ken R Smith, Anatoliy I Yashin
The Family Longevity Selection Score (FLoSS) was used to select families for the Long Life Family Study (LLFS) but has never been validated in other populations. The goal of this paper is to validate how well the FLoSS-based selection procedure works in an independent dataset. In this paper, we computed FLoSS using the lifespan data of 234,155 individuals from a large comprehensive genealogically-based resource, the Utah Population Database (UPDB), born between 1779 and 1910 with mortality follow-up through 2012-2013...
2018: Frontiers in Public Health
Danijela Tadić, Aleksandar Đorđević, Aleksandar Aleksić, Snežana Nestić
In the sense of contemporary industrial challenges, it may be said that many issues in the field of recycling may be analysed. In this paper, the model for choosing locations for construction of recycling centres equipped with new technology is proposed. The considered problem may be stated as a two-objective optimization problem, if the optimization criteria are presented as total distance and the overall suitability index sum. The relative importance and values of possible locations' attributes are described by pre-defined linguistic expressions, and modelled by interval triangular type-2 fuzzy numbers...
October 11, 2018: Waste Management & Research
Kevin Vanneste, Linda Garlant, Sylvia Broeders, Steven Van Gucht, Nancy H Roosens
BACKGROUND: Viral infection by dengue virus is a major public health problem in tropical countries. Early diagnosis and detection are increasingly based on quantitative reverse transcriptase real-time polymerase chain reaction (RT-qPCR) directed against genomic regions conserved between different isolates. Genetic variation can however result in mismatches of primers and probes with their targeted nucleic acid regions. Whole genome sequencing allows to characterize and track such changes, which in turn enables to evaluate, optimize, and (re-)design novel and existing RT-qPCR methods...
September 4, 2018: BMC Bioinformatics
Sergei Volis
The severely threatened Chinese flora urgently needs a new, well adapted to China and properly formulated conservation strategy. The present review provides a detailed conservation methodology that complements previously described guidelines for preservation of plant species with extremely small populations (PSESP) in China. This review adds to the above concept in several aspects, making it relevant to all threatened Chinese plant species. The proposed integral conservation strategy has the following crucial components:-ecoregional basis for conservation planning and implementation;-a unified scoring system that is used in regional systematic planning for reserve design, monitoring and assessment of efficiency of a reserve network, and creation of seed banks and living collections;-a focus on population demography and the presence of naturally occurring regeneration as the key criteria for defining the conservation status of a species and the appropriate major focus of the species recovery plan;-creation of multi-species living collections that preserve species genetic variation and provide material for in situ actions;-experimental translocation of threatened species into multiple locations within and outside their known range...
June 2018: Plant Diversity
Stefan Rutkowski, Piergiorgio Modena, Daniel Williamson, Kornelius Kerl, Karsten Nysom, Barry Pizer, Ute Bartels, Stephanie Puget, François Doz, Antony Michalski, Katja von Hoff, Mathilde Chevignard, Shivaram Avula, Matthew J Murray, Stefan Schönberger, Thomas Czech, Antoinette Y N Schouten-van Meeteren, Uwe Kordes, Christof M Kramm, Dannis G van Vuurden, Esther Hulleman, Geert O Janssens, Guirish A Solanki, Marie-Luise C van Veelen, Ulrich Thomale, Martin U Schuhmann, Chris Jones, Felice Giangaspero, Dominique Figarella-Branger, Torsten Pietsch, Steve C Clifford, Stefan M Pfister, Stefaan W Van Gool
Paediatric CNS tumours are the most common cause of childhood cancer-related morbidity and mortality, and improvements in their diagnosis and treatment are needed. New genetic and epigenetic information about paediatric CNS tumours is transforming the field dramatically. For most paediatric CNS tumour entities, subgroups with distinct biological characteristics have been identified, and these characteristics are increasingly used to facilitate accurate diagnoses and therapeutic recommendations. Future treatments will be further tailored to specific molecular subtypes of disease, specific tumour predisposition syndromes, and other biological criteria...
August 2018: Lancet Oncology
Rebecca Pawliw, Rebecca Farrow, Silvana Sekuloski, Helen Jennings, Julie Healer, Thuan Phuong, Pri Sathe, Cielo Pasay, Krystal Evans, Alan F Cowman, Louis Schofield, Nanhua Chen, James McCarthy, Katharine Trenholme
BACKGROUND: Although the use of induced blood stage malaria infection has proven to be a valuable tool for testing the efficacy of vaccines and drugs against Plasmodium falciparum, a limiting factor has been the availability of Good Manufacturing Practice (GMP)-compliant defined P. falciparum strains for in vivo use. The aim of this study was to develop a cost-effective method for the large-scale production of P. falciparum cell banks suitable for use in clinical trials. METHODS: Genetically-attenuated parasites (GAP) were produced by targeted deletion of the gene encoding the knob associated histidine rich protein (kahrp) from P...
August 6, 2018: Malaria Journal
Lyudmila V Savvateeva, Svetlana I Erdes, Anton S Antishin, Andrey A Zamyatnin
Coeliac disease (CD) is an autoimmune enteropathy triggered by the ingestion of gluten-containing grains in genetically predisposed individuals. Identification of CD in clinical practice is often difficult due to the manifestation of non-specific symptoms and signs, so a relatively significant proportion of CD cases remain undiagnosed. Timely detection of the disease is necessary to provide an appropriate approach to control of the disease treatment, in order to avoid potential complications. This is even more important in the case of children and adolescents, to ensure their proper growth and development...
July 27, 2018: International Archives of Allergy and Immunology
Artur Kowalik, Monika Siołek, Janusz Kopczyński, Kamila Krawiec, Joanna Kalisz, Sebastian Zięba, Beata Kozak-Klonowska, Elżbieta Wypiórkiewicz, Jowita Furmańczyk, Ewelina Nowak-Ozimek, Małgorzata Chłopek, Paweł Macek, Jolanta Smok-Kalwat, Stanisław Góźdź
Hereditary mutations in BRCA1/2 genes increase the risk of breast cancer by 60-80% and ovarian cancer by about 20-40% in female carriers. Detection of inherited mutations in asymptomatic carriers allows for the implementation of appropriate preventive measures. BRCA1/2 genotyping is also important for poly(adenosine diphosphate)-ribose polymerase (PARP) inhibitor administration. This work addresses the need for next-generation sequencing (NGS) technology for the detection of BRCA1/2 mutations in Poland where until recently mostly founder mutations have been tested, and whether BRCA diagnostics should be extended beyond the panel of founder mutations in this population...
2018: PloS One
Meena Balasubramanian, Rebecca Jones, Elizabeth Milne, Charlotte Marshall, Paul Arundel, Kath Smith, Nicholas J Bishop
Objectives: Osteogenesis Imperfecta (OI) is a heterogeneous condition mainly characterised by bone fragility; intelligence is reported to be normal. However, a minority of children seen also show symptomology consistent with an 'Autism Spectrum Disorder'. A joint genetics and psychology research study was undertaken to identify these patients using 'Gold Standard' research tools: Autism Diagnostic Inventory Revised (ADI-R); Autism Diagnostic Observation Schedule (ADOS) and undertake genetic analyses in them...
June 2018: Bone Reports
Amr Idris, Syed Raza Shah, Ki Park
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare cardiovascular disease that predisposes to ventricular arrhythmias potentially leading to sudden cardiac death (SCD). ARVC varies considerably with multiple clinical presentations, ranging from no symptoms to cardiac arrhythmias to SCD. ARVC prevalence is not well known, but the estimated prevalence in the general population is 1:5000. Diagnosis of ARVC can be made by using the Revised European Society of Cardiology criteria for ARVC that includes ventricular structural and functional changes, ECG abnormalities, arrhythmias, family and genetic factors...
2018: Journal of Community Hospital Internal Medicine Perspectives
Rachel M Chalmers, Gregorio Pérez-Cordón, Simone M Cacció, Christian Klotz, Lucy J Robertson
Due to the occurrence of genetic recombination, a reliable and discriminatory method to genotype Cryptosporidium isolates at the intra-species level requires the analysis of multiple loci, but a standardised scheme is not currently available. A workshop was held at the Robert Koch Institute, Berlin in 2016 that gathered 23 scientists with appropriate expertise (in either Cryptosporidium genotyping and/or surveillance, epidemiology or outbreaks) to discuss the processes for the development of a robust, standardised, multi-locus genotyping (MLG) scheme and propose an approach...
August 2018: Experimental Parasitology
Rafael de Souza Romaneli, André Zuffo Boaratti, Andressa Tellechea Rodrigues, Daniel Monge de Almeida Queiroz, Kifayat Ullah Khan, Thiago Matias Torres Nascimento, João Batista Kochenborger Fernandes, Cleber Fernando Menegasso Mansano
For the production and commercialization of ornamental fish species, it is indispensable to collect biometric data that facilitate the selection of animals for trade and genetic improvement of the stock. However, during the handling process, fish receive more stress if proper anesthetics are not used. Thus, application of appropriate anesthetics is an important tool for minimizing stress in animals. The objective of this study was to determine the effective concentrations of benzocaine, eugenol, and menthol for achieving anesthesia in Freshwater Angelfish Pterophyllum scalare and to develop induction and recovery response curves for different concentrations of these anesthetics...
May 29, 2018: Journal of Aquatic Animal Health
Jun Dai, Zheng-Tao Lv, Jun-Ming Huang, Peng Cheng, Huang Fang, An-Min Chen
PURPOSE: This meta-analysis was performed to clarify whether the two single nucleotide polymorphisms (ApaI and BsmI) in vitamin D receptor (VDR) gene conferred susceptibility to adolescent idiopathic scoliosis (AIS). METHODS: A comprehensive literature search in five online databases (PubMed, EMBASE, ISI Web of Science, CNKI, and Wanfang) was performed to identify studies that analyzed the association between VDR gene polymorphisms and risk of AIS. Observational studies met the predetermined inclusion criteria were selected for meta-analysis...
September 2018: European Spine Journal
Antonio Fernandez, Claudia Paoletti
Identifying and assessing unintended effects in genetically modified food and feed are considered paramount by the Food and Agricultural Organization (FAO), World Health Organization (WHO), and Codex Alimentarius, despite heated debate. This paper addresses outstanding needs: building consensus on the history-of-safe-use concept, harmonizing criteria to select appropriate conventional counterparts, and improving endpoint selection to identify unintended effects.
September 2018: Trends in Biotechnology
Terri Patricia McVeigh, Raghav Sundar, Nikolaos Diamantis, Stan B Kaye, Udai Banerji, Juanita S Lopez, Johann de Bono, Winette T A van der Graaf, Angela J George
INTRODUCTION: Adolescents and young adults (AYAs) diagnosed with cancer between ages 15-39 years may harbour germline variants associated with cancer predisposition. Such variants represent putative therapeutic targets, as may somatic variants in the tumour. Germline and tumour molecular profiling is increasingly utilised to facilitate personalisation of cancer treatment in such individuals. AIM: Considering AYAs with advanced solid tumours managed in a specialist drug development unit (DDU), the aims of this study were to investigate the use and impact of: 1...
May 2018: European Journal of Cancer
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