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Laboratory genetics

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https://www.readbyqxmd.com/read/28222408/severe-osteoporosis-with-multiple-spontaneous-vertebral-fractures-in-a-young-male-carrying-triple-polymorphisms-in-the-vitamin-d-receptor-collagen-type-1-and-low-density-lipoprotein-receptor-related-peptide-5-genes
#1
Maria P Yavropoulou, Panagoulia Kollia, Dimitris Chatzidimitriou, Stavroula Samara, Lemonia Skoura, John G Yovos
: Osteoporosis is a common disease with a strong genetic component. Several studies have reported the vitamin D receptor (VDR), collagen type I (COL1A1), and LDL receptor-related protein 5 (LRP5) genes as the most likely candidates. However, most of the studies have been carried out in postmenopausal women and older men and show inconsistent results. CASE PRESENTATION: We report a case of a 26-year old male who presented with severe back pain of acute onset, unrelated to any kind of trauma, and diffuse myalgia...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28222016/a-review-of-the-challenge-in-measuring-and-standardizing-bcr-abl1
#2
Shuping Yu, Ming Cui, Xiao He, Rongrong Jing, Huimin Wang
Breakpoint cluster region-Abelson (BCR-ABL1) translocation is the characteristic sign of chronic myeloid leukemia (CML). The quantitation of BCR-ABL1 messenger RNA is requisite for patients with CML, and reverse-transcription real-time quantitative polymerase chain reaction (RQ-PCR) is the method used most extensively in testing laboratories worldwide. Nevertheless, substantial variation in RQ-PCR results from different laboratories makes interlaboratory comparability inconvincible owing to the lack of standardization...
February 21, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28221953/comparative-evaluation-of-genomic-and-laboratory-approaches-for-determination-of-shiga-toxin-subtypes-in-escherichia-coli
#3
Catherine D Carrillo, Adam G Koziol, Amit Mathews, Noriko Goji, Dominic Lambert, George Huszczynski, Martine Gauthier, Kingsley Amoako, Burton W Blais
The determination of Shiga toxin (ST) subtypes can be an important element in the risk characterization of foodborne ST-producing Escherichia coli (STEC) isolates for making risk management decisions. ST subtyping methods include PCR techniques based on electrophoretic or pyrosequencing analysis of amplicons and in silico techniques based on whole genome sequence analysis using algorithms that can be readily incorporated into bioinformatics analysis pipelines for characterization of isolates by their genetic composition...
December 2016: Journal of Food Protection
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#4
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28220799/impact-of-genetic-background-and-experimental-reproducibility-on-identifying-chemical-compounds-with-robust-longevity-effects
#5
Mark Lucanic, W Todd Plummer, Esteban Chen, Jailynn Harke, Anna C Foulger, Brian Onken, Anna L Coleman-Hulbert, Kathleen J Dumas, Suzhen Guo, Erik Johnson, Dipa Bhaumik, Jian Xue, Anna B Crist, Michael P Presley, Girish Harinath, Christine A Sedore, Manish Chamoli, Shaunak Kamat, Michelle K Chen, Suzanne Angeli, Christina Chang, John H Willis, Daniel Edgar, Mary Anne Royal, Elizabeth A Chao, Shobhna Patel, Theo Garrett, Carolina Ibanez-Ventoso, June Hope, Jason L Kish, Max Guo, Gordon J Lithgow, Monica Driscoll, Patrick C Phillips
Limiting the debilitating consequences of ageing is a major medical challenge of our time. Robust pharmacological interventions that promote healthy ageing across diverse genetic backgrounds may engage conserved longevity pathways. Here we report results from the Caenorhabditis Intervention Testing Program in assessing longevity variation across 22 Caenorhabditis strains spanning 3 species, using multiple replicates collected across three independent laboratories. Reproducibility between test sites is high, whereas individual trial reproducibility is relatively low...
February 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28220509/a-novel-symbiovar-aegeanense-of-the-genus-ensifer-nodulates-vigna-unguiculata
#6
Anastasia P Tampakaki, Christos T Fotiadis, Georgia Ntatsi, Dimitrios Savvas
BACKGROUND: Cowpea (Vigna unguiculata) forms nitrogen-fixing root nodules with diverse symbiotic bacteria, mainly slow-growing rhizobial species belonging to the genus Bradyrhizobium, although few studies have reported the isolation of fast-growing rhizobia under laboratory and field conditions. Despite that much research has been done on cowpea-nodulating bacteria in various countries around the world, very limited information is available on cowpea rhizobia in European soils. The aim of this study was to study the genetic and phenotypic diversity of indigenous cowpea-nodulating rhizobia in Greece...
February 21, 2017: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/28220489/international-survey-on-the-use-and-welfare-of-zebrafish-danio-rerio-in-research
#7
K Lidster, G D Readman, M J Prescott, S F Owen
A survey was conducted regarding zebrafish Danio rerio use for scientific research with a focus on: anaesthesia and euthanasia; housing and husbandry; breeding and production; refinement opportunities. A total of 98 survey responses were received from laboratories in 22 countries in Europe, North America, South America, Asia and Australia. There appears a clear and urgent need to identify the most humane methods of anaesthesia and euthanasia. Aversive responses to MS-222 were widely observed raising concerns about the use of this anaesthetic for D...
February 20, 2017: Journal of Fish Biology
https://www.readbyqxmd.com/read/28220136/novel-sources-of-witchweed-striga-resistance-from-wild-sorghum-accessions
#8
Dorothy A Mbuvi, Clet W Masiga, Eric Kuria, Joel Masanga, Mark Wamalwa, Abdallah Mohamed, Damaris A Odeny, Nada Hamza, Michael P Timko, Steven Runo
Sorghum is a major food staple in sub-Saharan Africa (SSA), but its production is constrained by the parasitic plant Striga that attaches to the roots of many cereals crops and causes severe stunting and loss of yield. Away from cultivated farmland, wild sorghum accessions grow as weedy plants and have shown remarkable immunity to Striga. We sought to determine the extent of the resistance to Striga in wild sorghum plants. Our screening strategy involved controlled laboratory assays of rhizotrons, where we artificially infected sorghum with Striga, as well as field experiments at three sites, where we grew sorghum with a natural Striga infestation...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28219002/molecular-testing-for-gastrointestinal-cancer
#9
Hye Seung Lee, Woo Ho Kim, Yoonjin Kwak, Jiwon Koh, Jeong Mo Bae, Kyoung-Mee Kim, Mee Soo Chang, Hye Seung Han, Joon Mee Kim, Hwal Woong Kim, Hee Kyung Chang, Young Hee Choi, Ji Y Park, Mi Jin Gu, Min Jin Lhee, Jung Yeon Kim, Hee Sung Kim, Mee-Yon Cho
With recent advances in molecular diagnostic methods and targeted cancer therapies, several molecular tests have been recommended for gastric cancer (GC) and colorectal cancer (CRC). Microsatellite instability analysis of gastrointestinal cancers is performed to screen for Lynch syndrome, predict favorable prognosis, and screen patients for immunotherapy. The epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor has been approved in metastatic CRCs with wild-type RAS (KRAS and NRAS exon 2-4). A BRAF mutation is required for predicting poor prognosis...
February 19, 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28218276/natural-and-laboratory-mutations-in-kuzbanian-are-associated-with-zinc-stress-phenotypes-in-drosophila-melanogaster
#10
Hung Le Manh, Lain Guio, Miriam Merenciano, Quirze Rovira, Maite G Barrón, Josefa González
Organisms must cope with altered environmental conditions such as high concentrations of heavy metals. Stress response to heavy metals is mediated by the metal-responsive transcription factor 1 (MTF-1), which is conserved from Drosophila to humans. MTF-1 binds to metal response elements (MREs) and changes the expression of target genes. kuzbanian (kuz), a metalloendopeptidase that activates the evolutionary conserved Notch signaling pathway, has been identified as an MTF-1 target gene. We have previously identified a putatively adaptive transposable element in the Drosophila melanogaster genome, named FBti0019170, inserted in a kuz intron...
February 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28218058/novel-approaches-for-diagnosing-inherited-platelet-disorders
#11
REVIEW
José María Bastida Bermejo, Jesús María Hernández-Rivas, José Ramón González-Porras
Inherited platelet disorders diagnosis is based on the clinical history and bleeding assessment tools. The laboratory functional assays as well as the molecular test to identify the pathogenic genetic variant are essential to confirm the accurate diagnosis of these disorders. Nowadays, the main challenges to developing a new diagnostic system are involved in reducing the samples' volume, and faster and more helpful analysis. Moreover, there are no widely available and standardised global tests. High throughput genetic testing such as next-generation sequencing has revolutionised DNA sequencing technologies as it allows the simultaneous and faster investigation of multiple genes at a manageable cost...
January 20, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28216106/metabolic-engineering-of-a-haploid-strain-derived-from-a-triploid-industrial-yeast-for-producing-cellulosic-ethanol
#12
Soo Rin Kim, Jeffrey M Skerker, In Iok Kong, Heejin Kim, Matthew J Maurer, Guo-Chang Zhang, Dairong Peng, Na Wei, Adam P Arkin, Yong-Su Jin
Many desired phenotypes for producing cellulosic biofuels are often observed in industrial Saccharomyces cerevisiae strains. However, many industrial yeast strains are polyploid and have low spore viability, making it difficult to use these strains for metabolic engineering applications. We selected the polyploid industrial strain S. cerevisiae ATCC 4124 exhibiting rapid glucose fermentation capability, high ethanol productivity, strong heat and inhibitor tolerance in order to construct an optimal yeast strain for producing cellulosic ethanol...
February 16, 2017: Metabolic Engineering
https://www.readbyqxmd.com/read/28215994/safe-recombinant-outer-membrane-vesicles-that-display-m2e-elicit-heterologous-influenza-protection
#13
Hannah C Watkins, C Garrett Rappazzo, Jaclyn S Higgins, Xiangjie Sun, Nicole Brock, Annie Chau, Aditya Misra, Joseph P B Cannizzo, Michael R King, Taronna R Maines, Cynthia A Leifer, Gary R Whittaker, Matthew P DeLisa, David Putnam
Recombinant, Escherichia coli-derived outer membrane vesicles (rOMVs), which display heterologous protein subunits, have potential as a vaccine adjuvant platform. One drawback to rOMVs is their lipopolysaccharide (LPS) content, limiting their translatability to the clinic due to potential adverse effects. Here, we explore a unique rOMV construct with structurally remodeled lipids containing only the lipid IVa portion of LPS, which does not stimulate human TLR4. The rOMVs are derived from a genetically engineered B strain of E...
February 16, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28214534/demographic-phenotypic-and-genetic-characteristics-of-centenarians-in-okinawa-and-honshu-japan-part-2-honshu-japan
#14
REVIEW
Yasumichi Arai, Takashi Sasaki, Nobuyoshi Hirose
The scope and purpose of this review was to summarize the aims, methods, findings, and future of centenarian and (semi)-supercentenarian studies in Japan, particularly those from our own interdisciplinary laboratory. Medically, approximately 97% of centenarians contract chronic diseases including hypertension and gastrointestinal disease; however, they present with few cardiovascular risk factors. The low prevalence of diabetes mellitus and carotid atherosclerotic plaques are peculiarities of centenarians, which could be associated with high adiponectin levels...
February 15, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28214153/arrhythmogenic-right-ventricular-dysplasia-atypical-clinical-presentation
#15
José Marçalo, Luiz Menezes Falcão
A 67-year-old man was admitted to our hospital after episodes of syncope preceded by malaise and diffuse neck and chest discomfort. No family history of cardiac disease was reported. Laboratory workup was within normal limits, including D-dimers, serum troponin I and arterial blood gases. The electrocardiogram showed sinus rhythm with T-wave inversion in leads V1 to V3. Computed tomography angiography to investigate pulmonary embolism showed no abnormal findings. Transthoracic echocardiography (TTE) displayed massive enlargement of the right ventricle with intact interatrial septum and no pulmonary hypertension...
February 14, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28213806/clinical-ugt1a1-genetic-analysis-in-pediatric-patients-experience-of-a-reference-laboratory
#16
Ann M Moyer, Jennifer M Skierka, Katrina E Kotzer, Michelle L Kluge, John L Black, Linnea M Baudhuin
BACKGROUND: Neonatal hyperbilirubinemia can be severe or prolonged and warrant exploration into the underlying etiology, which may include genetic assessment of UGT1A1 for inherited disorders (i.e. Crigler-Najjar syndrome or Gilbert syndrome). METHODS: In our reference laboratory, we performed UGT1A1 gene sequencing analysis on 346 pediatric patients referred for a clinical indication of hyperbilirubinemia. RESULTS: Males (n = 241) had significantly higher mean total bilirubin concentration compared to females (n = 105) (9...
February 17, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28213650/alleviation-of-water-and-osmotic-stress-induced-changes-in-nitrogen-metabolizing-enzymes-in-triticum-aestivum-l-cultivars-by-potassium
#17
Mohammad Abass Ahanger, Megha Tittal, Rayees Ahmad Mir, R M Agarwal
Present communication reports laboratory and pot experiments conducted to study the influence of water and osmotic stress on nitrogen uptake and metabolism in two wheat (Triticum aestivum L) cultivars with and without potassium supplementation. Polyethylene glycol 6000-induced osmotic stress/restricted irrigation caused a considerable decline in the activity of nitrate reductase, glutamate synthase, alanine and aspartate aminotransferases, and glutamate dehydrogenase. Potassium considerably improved nitrogen metabolism under normal water supply conditions and also resulted in amelioration of the negative impact of water and osmotic stresses indicating that potassium supplementation can be used as a potential tool for enhancing the nitrogen use efficiency in wheat for exploiting its genetic potential...
February 17, 2017: Protoplasma
https://www.readbyqxmd.com/read/28213544/isolation-and-characterization-of-a-unique-strain-of-rickettsia-parkeri-associated-with-the-hard-tick-dermacentor-parumapertus-neumann-in-the-western-united-states
#18
Christopher D Paddock, Michelle E J Allerdice, Sandor E Karpathy, William L Nicholson, Michael L Levin, Travis C Smith, Tom Becker, Robert J Delph, Robert N Knight, Jana M Ritter, Jeanine H Sanders, Jerome Goddard
In 1953, investigators at the Rocky Mountain Laboratories in Hamilton, Montana, described the isolation of a spotted fever group Rickettsia (SFGR) species from Dermacentor parumapertus collected from black-tailed jackrabbits (Lepus californicus) in northern Nevada. Several decades later, investigators characterized this SFGR by using mouse serotyping methods and determined that it represented a distinct rickettsial serotype, related closely to Rickettsia parkeri; nonetheless, the parumapertus agent was not further characterized or studied...
February 17, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28213045/identification-of-the-causes-for-chronic-hypokalemia-importance-of-urinary-sodium-and-chloride-excretion
#19
Kun-Lin Wu, Chih-Jen Cheng, Chih-Chen Sung, Ming-Hua Tseng, Yu-Juei Hsu, Sung-Sen Yang, Tom Chau, Shih-Hua Lin
BACKGROUND: Uncovering the correct diagnosis of chronic hypokalemia with potassium (K(+)) wasting from the kidneys or gut can be fraught with challenges. We identified clinical and laboratory parameters helpful for differentiating the causes of chronic hypokalemia. METHODS: Normotensive patients referred to our tertiary academic medical center for the evaluation of chronic hypokalemia were prospectively enrolled over five years. Clinical features, laboratory examinations-including blood and spot urine electrolytes, acid-base status, biochemistries and hormones-as well as genetic analysis were determined...
February 14, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28212990/high-plasma-levels-of-soluble-programmed-cell-death-ligand-1-are-prognostic-for-reduced-survival-in-advanced-lung-cancer
#20
Yusuke Okuma, Yukio Hosomi, Yoshiro Nakahara, Kageaki Watanabe, Yukiko Sagawa, Sadamu Homma
OBJECTIVES: Programmed cell death-ligand 1 (PD-L1) expressed in tumor tissues is a key molecule for immune suppression, given its role in immune checkpoints. The significance and implication of soluble PD-L1 (sPD-L1) in the blood of lung cancer patients remain unknown. PATIENTS AND METHODS: Blood samples were prospectively collected from patients with advanced lung cancer, and the plasma sPD-L1 concentrations were measured by enzyme-linked immunosorbent assay. The correlations of the plasma sPD-L1 levels with clinico-pathological status, laboratory data, and survival of the patients were analyzed...
February 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
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