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Appropriate use criteria genetics

Juliette Schuurmans, Erwin Birnie, Lieke M van den Heuvel, Mirjam Plantinga, Anneke Lucassen, Dorina M van der Kolk, Kristin M Abbott, Adelita V Ranchor, Agnes D Diemers, Irene M van Langen
Expanded carrier screening (ECS) aims to inform couples' reproductive choice, preferably before conception. As part of an implementation study in which trained general practitioners (GPs) offered a population-based ECS couple-test, we evaluated the feasibility of the test-offer and degree of participant informed choice (IC). Trained GPs from nine practices in the northern Netherlands invited 4295 female patients aged 18-40 to take part in couple-based ECS. Inclusion criteria were having a male partner, planning for children and not being pregnant...
February 11, 2019: European Journal of Human Genetics: EJHG
Jonathan M Schott, Sebastian J Crutch
PURPOSE OF REVIEW: This article presents an overview of the clinical syndrome of posterior cortical atrophy (PCA), including its pathologic underpinnings, clinical presentation, investigation findings, diagnostic criteria, and management. RECENT FINDINGS: PCA is usually an atypical form of Alzheimer disease with relatively young age at onset. New diagnostic criteria allow patients to be diagnosed on a syndromic basis as having a primary visual (pure) form or more complex (plus) form of PCA and, when possible, on a disease-specific basis using biomarkers or underlying pathology...
February 2019: Continuum: Lifelong Learning in Neurology
Milos Mihajlovic, Kimberley E Wever, Thom K van der Made, Rob B M de Vries, Luuk B Hilbrands, Rosalinde Masereeuw
The number of individuals affected by acute kidney injury (AKI) and chronic kidney disease (CKD) is constantly rising. In light of the limited availability of treatment options and their relative inefficacy, cell based therapeutic modalities have been studied. However, not many efforts are put into safety evaluation of such applications. The aim of this study was to review the existing published literature on adverse events reported in studies with genetically modified cells for treatment of kidney disease...
January 21, 2019: Pharmacology & Therapeutics
Juan R Canedo, Stephania T Miller, Hector F Myers, Maureen Sanderson
Precision medicine has grown over the past 20 years with the availability of genetic tests and has changed the one-size-fits-all paradigm in medicine. Precision medicine innovations, such as newly available genetic tests, could potentially widen racial and ethnic disparities if access to them is unequal and if interest to use them differs across groups. The objective of this systematic review was to synthesize existing evidence on racial and ethnic differences in knowledge of and attitudes toward genetic testing among adult patients and the general public in the US, focusing on research about the use of genetic testing in general, not disease-specific tests...
January 21, 2019: Journal of Genetic Counseling
Touraj Mohammadpour, Amir Massoud Bidgoli, Rasul Enayatifar, Hamid Haj Seyyed Javadi
The ultimate goal of the Recommender System (RS) is to offer a proposal that is very close to the user's real opinion. Data clustering can be effective in increasing the accuracy of production proposals by the RS. In this paper, single-objective hybrid evolutionary approach is proposed for clustering items in the offline collaborative filtering RS. This method, after generating a population of randomized solutions, at each iteration, improves the population of solutions first by Genetic Algorithm (GA) and then by using the Gravitational Emulation Local Search (GELS) algorithm...
January 3, 2019: Genomics
Gayatri Devi, Philip Scheltens
BACKGROUND: Alzheimer's disease is a heterogenous disorder with multiple phenotypes and genotypes, although they eventually converge to a final common clinicopathological endpoint. However, Alzheimer's disease drug trials do not account for the heterogeneity of the disease in trial design, impeding development of effective drugs. DISCUSSION: Alzheimer's disease drug trials commonly have wide inclusion criteria that subsume multiple subtypes of the condition, with varying genotypes, phenotypes, and clinical courses...
December 19, 2018: Alzheimer's Research & Therapy
Katsuyoshi Matsunami
Caenorhabditis elegans has been used in research for years to clarify the genetic cascades and molecular mechanisms of aging, longevity, and health span. Health span is closely related to frailty; however, frailty has a different concept and is evaluated using various parameters in humans, such as Fried's Frailty Criteria. The C. elegans model has several advantages when performing a chemical screen to identify drug candidates. Several mouse models of frailty were recently developed, including a homozygous IL-10 knockout...
2018: Frontiers in Nutrition
M R Sánchez Pérez, M J Sánchez Pérez, J A Lorente Acosta, E Bayo Lozano, J Mancera Romero
AIMS: To assess the knowledge and attitude among general practitioners in Andalusia on the identification of subjects with elevated risk for breast cancer, colorectal cancer, and hereditary cancers, as well as to detect barriers to accessibility to the screening programs. METHODS: A descriptive, cross-sectional study was conducted based on an online survey of 24 questions. Data are shown as frequencies, and association tests were statistically used. The level of significance was set at<...
October 24, 2018: Semergen
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
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