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https://www.readbyqxmd.com/read/29779130/the-present-and-the-future-of-genetic-testing-in-familial-hypercholesterolemia-opportunities-and-caveats
#1
REVIEW
Amanda J Hooper, John R Burnett, Damon A Bell, Gerald F Watts
PURPOSE OF REVIEW: We summarize recent advances in the understanding of genetic testing in familial hypercholesterolemia (FH), the use of expanded FH next-generation sequencing panels, and directions for future research. RECENT FINDINGS: The uptake of massively parallel sequencing in research and diagnostic laboratories has enabled expanded testing for FH and its phenocopies, with the added advantage that copy number variants can be detected. However, increasing the number of genes tested increases the number of variants detected, which may or may not be pathogenic...
May 19, 2018: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/29778030/retrospective-genotype-phenotype-analysis-in-a-305-patient-cohort-referred-for-testing-of-a-targeted-epilepsy-panel
#2
Andrew N Hesse, Jennifer Bevilacqua, Kritika Shankar, Honey V Reddi
PURPOSE: Epilepsy is a diverse neurological condition with extreme genetic and phenotypic heterogeneity. The introduction of next-generation sequencing into the clinical laboratory has made it possible to investigate hundreds of associated genes simultaneously for a patient, even in the absence of a clearly defined syndrome. This has resulted in the detection of rare and novel mutations at a rate well beyond our ability to characterize their effects. This retrospective study reviews genotype data in the context of available phenotypic information on 305 patients spanning the epileptic spectrum to identify established and novel patterns of correlation...
May 16, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29777667/properties-and-units-in-the-clinical-laboratory-sciences-part-xxiv-properties-and-units-in-clinical-molecular-genetics-technical-report-2017
#3
Ulla M Petersen, Ariadna Padró Miquel, Graham Taylor, Jens Michael Hertz, Rebecca Ceder, Xavier Fuentes Arderiu, Johan T den Dunnen
This document describes the application of the syntax, semantic rules, and format of the Nomenclature for Properties and Units (NPU) terminology for coded dedicated kinds-of-property in the subject field of clinical molecular genetics. A vocabulary for NPU definitions in this field, based on international terminology and nomenclature, is introduced; examples of actual NPU definitions for different types of investigations are given and explained.
May 16, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29777358/generation-of-genetically-engineered-animals-using-engineered-endonucleases
#4
REVIEW
Jong Geol Lee, Young Hoon Sung, In-Jeoung Baek
The key to successful drug discovery and development is to find the most suitable animal model of human diseases for the preclinical studies. The recent emergence of engineered endonucleases is allowing for efficient and precise genome editing, which can be used to develop potentially useful animal models for human diseases. In particular, zinc finger nucleases, transcription activator-like effector nucleases, and the clustered regularly interspaced short palindromic repeat systems are revolutionizing the generation of diverse genetically-engineered experimental animals including mice, rats, rabbits, dogs, pigs, and even non-human primates that are commonly used for preclinical studies of the drug discovery...
May 17, 2018: Archives of Pharmacal Research
https://www.readbyqxmd.com/read/29776753/genetic-and-antigenic-relationship-of-foot-and-mouth-disease-virus-serotype-o-isolates-with-the-vaccine-strain-o1-bfs
#5
Wanhong Xu, Zhidong Zhang, Charles Nfon, Ming Yang
Foot-and-mouth disease serotype O viruses (FMDV/O) are responsible for the most outbreaks in FMD endemic countries. O1/BFS is one of the recommended FMD/O vaccine strains by World Reference Laboratory for FMD. In the current study, FMDV/O1 BFS vaccine strain and serotype O field isolates (45) were analyzed phylogenetically and antigenically to gain more insight into the genetic and antigenic characteristics of the vaccine strain and field isolates. O1/BFS showed similarity with 89% of the field isolates using a virus neutralization test (VNT)...
May 15, 2018: Vaccine
https://www.readbyqxmd.com/read/29776379/development-of-a-rapid-field-applicable-molecular-diagnostic-for-knockdown-resistance-kdr-markers-in-an-gambiae
#6
Vera T Unwin, Shaun Ainsworth, Emily J Rippon, El Hadji Amadou Niang, Mark J I Paine, David Weetman, Emily R Adams
BACKGROUND: The spread of insecticide resistance (IR) is a major threat to vector control programmes for mosquito-borne diseases. Early detection of IR using diagnostic markers could help inform these programmes, especially in remote locations where gathering reliable bioassay data is challenging. Most current molecular tests for genetic IR markers are only suitable for use in well-equipped laboratory settings. There is an unmet need for field-applicable diagnostics. METHODS: A single-cartridge test was designed to detect key IR mutations in the major African vector of malaria, Anopheles gambiae...
May 18, 2018: Parasites & Vectors
https://www.readbyqxmd.com/read/29775405/the-mouse-heart-attack-research-tool-mhart-1-0-database
#7
Kristine Y DeLeon-Pennell, Rugmani Padmanabhan Iyer, Yonggang Ma, Andriy Yabluchanskiy, Rogelio Zamilpa, Ying Ann Chiao, Presley Cannon, Courtney Cates, Elizabeth R Flynn, Ganesh V Halade, Lisandra E de Castro Bras, Merry L Lindsey
The generation of Big Data has enabled systems-level dissections into the mechanisms of cardiovascular pathology. Integration of genetic, proteomic, and pathophysiological variables across platforms and laboratories fosters discoveries through multidisciplinary investigations and minimizes unnecessary redundancy in research efforts. The Mouse Heart Attack Research Tool (mHART) consolidates a large dataset of over 10 years of experiments from a single laboratory for cardiovascular investigators to generate novel hypotheses and identify new predictive markers of progressive left ventricular remodeling following myocardial infarction (MI) in mice...
May 18, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29774138/clinical-evaluation-of-morgellons-disease-in-a-cohort-of-north-american-patients
#8
Melissa C Fesler, Marianne J Middelveen, Raphael B Stricker
Morgellons disease (MD) is a dermatological condition characterized by aberrant production of keratin and collagen fibers in skin. Although infection with Borrelia burgdorferi , the causative agent of Lyme disease (LD), has been associated with MD, relatively few studies have hitherto provided epidemiological evidence regarding this association. A cohort of 1000 seropositive North American LD patients was evaluated for the presence of MD. Patients were diagnosed with MD based on detection of microscopic fibers in skin lesions or under unbroken skin...
April 23, 2018: Dermatology Reports
https://www.readbyqxmd.com/read/29773907/an-approach-to-monitoring-home-cage-behavior-in-mice-that-facilitates-data-sharing
#9
Edoardo Balzani, Matteo Falappa, Fuat Balcà, Valter Tucci
Genetically modified mice are used as models for a variety of human behavioral conditions. However, behavioral phenotyping can be a major bottleneck in mouse genetics because many of the classic protocols are too long and/or are vulnerable to unaccountable sources of variance, leading to inconsistent results between centers. We developed a home-cage approach using a Chora feeder that is controlled by-and sends data to-software. In this approach, mice are tested in the standard cages in which they are held for husbandry, which removes confounding variables such as the stress induced by out-of-cage testing...
June 2018: Nature Protocols
https://www.readbyqxmd.com/read/29773069/high-altitude-pulmonary-hypertension
#10
Maurizio Bussotti, Giovanni Marchese
The effects of hypoxia on the human organism has been considered doubly fascinating by the scientific community: the knowledge of the discrete mechanisms allowing the acclimatization both at the genetic level or through the cell mediators production in addition to the macroscopic responses of the cardio-circulatory and ventilatory systems to a hypoxic environment has been progressively developed since the last century; moreover granting a safer stay in hypoxic conditions not only for the residents but also for the different cathegories of workers, sportsmen and tourists has been considered a worthy aim of the medical activity...
May 17, 2018: Cardiovascular & Hematological Disorders Drug Targets
https://www.readbyqxmd.com/read/29772086/physcomitrella-patens-reute-mcherry-as-a-tool-for-efficient-crossing-within-and-between-ecotypes
#11
Pierre-François Perroud, Rabea Meyberg, Stefan A Rensing
Physcomitrella patens is a monoicous moss that is predominantly selfing in the wild. Laboratory crossing techniques have been established and crosses between the sequenced Gransden ecotype and the genetically divergent Villersexel ecotype were used for genetic mapping. The recently introduced ecotype Reute displays a high fertility rate and is genetically more closely related to the Gransden reference genome than the Villersexel ecotype. The Reute sexual reproduction phenology is similar to Gransden, which should allow successful crossing...
May 17, 2018: Plant Biology
https://www.readbyqxmd.com/read/29772013/rapid-differentiation-of-epithelial-cell-types-in-aged-biological-samples-using-autofluorescence-and-morphological-signatures
#12
Emily R Brocato, M Katherine Philpott, Catherine C Connon, Christopher J Ehrhardt
Establishing the tissue source of epithelial cells within a biological sample is an important capability for forensic laboratories. In this study we used Imaging Flow Cytometry (IFC) to analyze individual cells recovered from buccal, epidermal, and vaginal samples that had been dried between 24 hours and more than eight weeks. Measurements capturing the size, shape, and fluorescent properties of cells were collected in an automated manner and then used to build a multivariate statistical framework for differentiating cells based on tissue type...
2018: PloS One
https://www.readbyqxmd.com/read/29771000/molecular-testing-in-holoprosencephaly
#13
Paul Kruszka, Ariel F Martinez, Maximilian Muenke
Holoprosencephaly (HPE) is a structural brain anomaly characterized by failure of the forebrain to separate during early embryogenesis. Both genetic and environmental etiologies of HPE have been discovered over the last three decades. Traditionally, the genetic workup for HPE has been a karyotype, chromosomal microarray, and/or Sanger sequencing of select genes. The recent increased availability of next-generation sequencing has changed the molecular diagnostic landscape for HPE, associating new genes with this disorder such as FGFR1...
May 17, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29770092/canada-s-pandemic-influenza-preparedness-laboratory-strategy
#14
B Henry
The Canadian Pandemic Influenza Preparedness: Planning Guidance for the Health Sector (CPIP) is a guidance document that outlines key health sector preparedness activities designed to ensure Canada is ready to respond to the next influenza pandemic. This article outlines Canada's pandemic influenza laboratory strategy as described in the CPIP Laboratory Annex . Laboratory identification and characterization of an influenza pandemic virus is critical to detect the pandemic, develop a vaccine, detect antiviral resistance and inform surveillance functions such as monitoring the geographic spread of the disease...
January 4, 2018: Canada Communicable Disease Report, Relevé des Maladies Transmissibles Au Canada
https://www.readbyqxmd.com/read/29769451/effect-of-ferulic-acid-supplementation-on-the-developmental-competence-of-porcine-embryos-during-in-vitro-maturation
#15
Fuminori Tanihara, Maki Hirata, Nguyen Thi Nhien, Takayuki Hirano, Toshiki Kunihara, Takeshige Otoi
The value of laboratory and genetically-modified pigs is becoming increasingly clear; however, their in vitro development remains inefficient. Trans-ferulic acid (trans-FA) is an aromatic compound that is abundant in plant cell walls, and which exhibits antioxidant effects in vitro. Trans-FA is known to improve sperm viability and motility; however, its effects on porcine oocytes are unknown. Our aim was to investigate the effects of trans-FA supplementation during in vitro maturation on the meiotic and developmental competence of porcine oocytes...
May 16, 2018: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/29768978/levels-of-serum-trace-elements-in-patients-with-peyronie
#16
Mustafa Gunes, Rahmi Aslan, Recep Eryılmaz, Halit Demir, Kerem Taken
AIM: The etiology of the disease of Peyronie is not certainly known. However, penile micro traumas are thought to be important in the pathogenesis of Peyronie's disease (PD) in genetically predisposed individuals. In this study, we aimed to determine the relationship of some trace element and heavy metals with PD. MATERIAL AND METHODS: Thirty Peyronie patients and 26 healthy volunteers were included in the study. In individuals in both groups, levels of serum trace elements (Manganese [Mn], Cu, Cobalt (Co), zinc [Zn], Cd, and iron [Fe]) were determined separately by Atomic Absorption Spectrophotometer method in Yüzüncü Yıl University Central Research Laboratory...
May 17, 2018: Aging Male: the Official Journal of the International Society for the Study of the Aging Male
https://www.readbyqxmd.com/read/29768628/androgen-insensitivity-syndrome-a-review
#17
Rafael Loch Batista, Elaine M Frade Costa, Andresa de Santi Rodrigues, Nathalia Lisboa Gomes, José Antonio Faria, Mirian Y Nishi, Ivo Jorge Prado Arnhold, Sorahia Domenice, Berenice Bilharinho de Mendonca
Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype - phenotype correlation in this syndrome...
March 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29767817/-motor-neuron-diseases-clinical-and-genetic-differential-diagnostics
#18
REVIEW
M Regensburger, N Weidner, Z Kohl
The causes of degenerative disease of the upper and lower motor neurons are incompletely understood. In this review the current concepts in the clinical and genetic differential diagnostics of motor neuron diseases are presented. Hereditary spastic paraplegia, primary lateral sclerosis, spinal muscular atrophy and amyotrophic lateral sclerosis are explained, structured according to the affection of the upper and/or lower motor neuron. The substantial variability in the presentation and course of motor neuron diseases as well as the lack of specific laboratory tests hinder an early diagnosis...
May 16, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29766243/a-proteomic-analysis-of-ferulic-acid-metabolism-in-amycolatopsis-sp-atcc-39116
#19
Florian Meyer, Julius Netzer, Christina Meinert, Birgit Voigt, Katharina Riedel, Alexander Steinbüchel
The pseudonocardiate Amycolatopsis sp. ATCC 39116 is used for the biotechnical production of natural vanillin from ferulic acid. Our laboratory has performed genetic modifications of this strain previously, but there are still many gaps in our knowledge regarding its vanillin tolerance and the general metabolism. We performed cultivations with this bacterium and compared the proteomes of stationary phase cells before ferulic acid feeding with those during ferulic acid feeding. Thereby, we identified 143 differently expressed proteins...
May 16, 2018: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/29765696/behavioural-divergence-during-biological-invasions-a-study-of-cane-toads-rhinella-marina-from-contrasting-environments-in-hawai-i
#20
Jodie Gruber, Gregory Brown, Martin J Whiting, Richard Shine
Invasive species must deal with novel challenges, both from the alien environment and from pressures arising from range expansion per se (e.g. spatial sorting). Those conditions can create geographical variation in behaviour across the invaded range, as has been documented across regions of Australia invaded by cane toads; range-edge toads are more exploratory and willing to take risks than are conspecifics from the range-core. That behavioural divergence might be a response to range expansion and invasion per se , or to the different environments encountered...
April 2018: Royal Society Open Science
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