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Stephany Tandy-Connor, Jenna Guiltinan, Kate Krempely, Holly LaDuca, Patrick Reineke, Stephanie Gutierrez, Phillip Gray, Brigette Tippin Davis
PurposeThere is increasing demand from the public for direct-to-consumer (DTC) genetic tests, and the US Food and Drug Administration limits the type of health-related claims DTC tests can market. Some DTC companies provide raw genotyping data to customers if requested, and these raw data may include variants occurring in genes recommended by the American College of Medical Genetics and Genomics to be reported as incidental/secondary findings. The purpose of this study was to review the outcome of requests for clinical confirmation of DTC results that were received by our laboratory and to analyze variant classification concordance...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Francisca Gleire R Menezes, Wescley E Barbosa, Lorrana S Vasconcelos, Rafael S Rocha, Rodrigo Maggioni, Oscarina V Sousa, Ernesto Hofer, Regine H S F Vieira
Vibrio coralliilyticus is a known pathogen to corals and larvae of bivalves. Its identification is made based on phenotypic and genotypic characters of isolated strains. To evaluate the efficiency of the phenotypic identification, 21 strains identified as V. coralliilyticus using a widely used dichotomous key were analyzed by qualitative PCR and sequencing of the 16S rDNA region. The results obtained by the behavioral test, amino acids usage, allow us to distinguish 3 A/L/O profiles: (1) A+/L-/O+; (2) A+/L+/O+; and (3) A-/L+/O+...
March 22, 2018: Diseases of Aquatic Organisms
Truong Dinh Hoai, Issei Nishiki, Terutoyo Yoshida, Toshihiro Nakai
Three lytic phages (PLgW-1, PLgY-16, and PLgY-30) were previously used for phage-typing Lactococcus garvieae, a bacterial pathogen of various marine fish species, and were demonstrated to be potential therapeutants for infections caused by L. garvieae. The morphology, host range, and efficacy of these phages have not been investigated in detail, however. The current study examined the lysis spectrum of these 3 phages against 16 different genotypes of L. garvieae and the influence of a bacterial capsule on phage efficacy, to aid in developing an effective treatment for lactococcosis in fish...
March 22, 2018: Diseases of Aquatic Organisms
Takafumi Ito, Jun Kurita, Koh-Ichiro Mori, Helle Frank Skall, Niels Lorenzen, Niccolò Vendramin, Nikolaj Gedsted Andersen, Katja Einer-Jensen, Niels Jørgen Olesen
Four major genotypes of viral haemorrhagic septicaemia virus (VHSV), which have been isolated from many marine and freshwater fish species, are known to differ in virulence. While fast and low-cost genotyping systems based on monoclonal antibodies (MAbs) have been developed for typing of VHSV virulence, there is a need for supplementing the knowledge. In particular, 2 field isolates from viral haemorrhagic septicaemia (VHS) outbreaks in sea-reared rainbow trout Oncorhynchus mykiss in Sweden, SE-SVA-14 and SE-SVA-1033 (both genotype Ib), have yielded contradictory reactions...
March 22, 2018: Diseases of Aquatic Organisms
Elena Khazina, Oliver Weichenrieder
LINE-1 (L1) is an autonomous retrotransposon, which acted throughout mammalian evolution and keeps contributing to human genotypic diversity, genetic disease and cancer. L1 encodes two essential proteins: L1ORF1p, a unique RNA-binding protein, and L1ORF2p, an endonuclease and reverse transcriptase. L1ORF1p contains an essential, but rapidly evolving N-terminal portion, homo-trimerizes via a coiled coil and packages L1RNA into large assemblies. Here, we determined crystal structures of the entire coiled coil domain of human L1ORF1p...
March 22, 2018: ELife
Meiji Soe Aung, Nilar San, Win Win Maw, Thida San, Noriko Urushibara, Mitsuyo Kawaguchiya, Ayako Sumi, Nobumichi Kobayashi
The increasing trend of Escherichia coli producing extended-spectrum beta-lactamases (ESBLs) and carbapenemases is a global public health concern. In this study, prevalence and molecular characteristics of E. coli harboring ESBL and carbapenemase genes were investigated for 426 isolates derived from various clinical specimens in a teaching hospital in Yangon, Myanmar, for the 1-year period beginning January 2016. A total of 157 isolates (36.9%) were ESBL producers and harbored CTX-M-1 group genes (146 isolates; blaCTX-M-15 , blaCTX-M55 ) or CTX-M-9 group genes (11 isolates; blaCTX-M-14 , blaCTX-M-27 )...
March 22, 2018: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
Tsukasa Okamoto, Susan K Mathai, Corinne E Hennessy, Laura A Hancock, Avram D Walts, Adrianne L Stefanski, Kevin K Brown, David A Lynch, Gregory P Cosgrove, Steve D Groshong, Carlyne D Cool, Marvin I Schwarz, Nirmal K Banda, Joshua M Thurman, Ivana V Yang, Vernon Michael Holers, David A Schwartz
The common gain-of-function MUC5B promoter variant (rs35705950) is the strongest risk factor for the development of idiopathic pulmonary fibrosis (IPF). While the role of complement in IPF is controversial, both MUC5B and the complement system play a role in lung host defense. The aim of this study was to evaluate the relationship between C3 and MUC5B in patients with IPF and in bleomycin-induced lung injury in mice. To do this, we evaluated C3 gene expression in whole lung tissue from 300 subjects with IPF and 175 healthy controls...
March 22, 2018: American Journal of Physiology. Lung Cellular and Molecular Physiology
Juliana Paula Bruch Bertani, Bruna Cherubini Alves, Laura Alencastro de Azevedo, Mário Reis Álvares-da-Silva, Valesca Dall'Alba
INTRODUCTION: Occidental diet and metabolic profile seems to increase hepatic fibrosis (HF) in patients with chronic hepatitis C virus (HCV) infection, but there is scarce information about the diet components and their role in this setting. OBJECTIVES: This study aims to evaluate the dietary intake, metabolic profile, presence of metabolic syndrome (MetS) and cardiovascular risk in patients with chronic HCV infection according to the presence of fibrosis. METHODS: Cross-sectional study which 58 patients with HCV infection without active antiviral therapy and non-cirrhotic were assessed...
January 11, 2018: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
Miles B Markus
A curious aspect of the evolution of the hypnozoite theory of malarial relapse is its transmogrification from theory into 'fact', this being of historical, linguistic, scientific and sociological interest. As far as it goes, the hypnozoite explanation for relapse is almost certainly correct. I contend, however, that many of the genotypically homologous, non-reinfection, relapse-like Plasmodium vivax recurrences that researchers ascribe to hypnozoite activation are probably hypnozoite-independent. Indeed, some malariologists are starting to recognize that homologous P...
March 22, 2018: Parasitology
A Kirolos, C Waugh, K Templeton, D McCormick, R Othieno, L J Willocks, J Stevenson
In September 2016, an imported case of measles in Edinburgh in a university student resulted in a further 17 confirmed cases during October and November 2016. All cases were genotype D8 and were associated with a virus strain most commonly seen in South East Asia. Twelve of the 18 cases were staff or students at a university in Edinburgh and 17 cases had incomplete or unknown measles mumps rubella (MMR) vaccination status. The public health response included mass follow-up of all identified contacts, widespread communications throughout universities in Edinburgh and prompt vaccination clinics at affected campuses...
March 22, 2018: Epidemiology and Infection
Godela M Brosnahan, Kaleab Z Abebe, Charity G Moore, Kyongtae T Bae, William E Braun, Arlene B Chapman, Michael F Flessner, Peter C Harris, Marie C Hogan, Ronald D Perrone, Frederic F Rahbari-Oskoui, Theodore I Steinman, Vicente E Torres, The Halt Pkd Investigators
BACKGROUND: The HALT PKD trial in early autosomal dominant polycystic kidney disease (ADPKD) showed that intensive control of systolic blood pressure to 95-110 mmHg was associated with a 14% slower rate of kidney volume growth compared to standard control. It is unclear whether this result was due to greater blockade of the renin-angiotensin-aldosterone system (RAAS) by allowing the use of higher drug doses in the low blood pressure arm, or due to the lower blood pressure per se. METHODS: In this secondary analysis of HALT PKD Study A, we categorized participants into high and low dose groups based on the median daily equivalent dose of RAAS blocking drugs used after the initial dose titration period...
March 21, 2018: Current Hypertension Reviews
Debora Di Mauro, Monica Currò, Fabio Trimarchi, Mercurio Vecchio, Giuseppina Rizzo, Davide Barreca, Giuseppa Visalli, Riccardo Ientile, Daniela Caccamo
Methylene-tetrahydrofolate reductase (MTHFR) and paraoxonase 1 (PON1) gene polymorphisms have been associated with hyperhomocysteinemia and oxidative stress increase, that are established cardiovascular risk factors. Given that intense physical activity may increase the susceptibility to adverse cardiovascular outcomes, here we investigated the effects of MTHFR C677T and A1298C as well as PON1 Q192R gene polymorphisms on cardiovascular risk markers in twenty-eight male water polo elite players. The mean plasma levels of homocysteine (Hcy) and advanced oxidation protein products (AOPP) were above reference limits in resting conditions, and increased after competition...
March 21, 2018: International Journal of Sports Medicine
Sandra Vuong, Paul Delgado-Olguin
Genotyping is an invaluable tool for identifying organisms carrying genetic variations including insertions and deletions. This method involves the extraction of DNA from animal tissue samples and subsequent amplification of genomic regions of interest by polymerase chain reaction (PCR). The amplified products are analyzed by agarose gel electrophoresis based on their size.
2018: Methods in Molecular Biology
Yongping Chen, Bei Cao, Ruwei Ou, Qianqian Wei, Xueping Chen, Bi Zhao, Ying Wu, Wei Song, Hui-Fang Shang
Large-scale meta-analyses of genome-wide association studies have identified several loci linked to sporadic Parkinson's disease (PD). However, the roles of some important loci, such as HNMT Thr105Ile, STK39 rs2390669, and NMD3 rs34016896, have not been clarified in Chinese populations. Accumulating evidence indicates that some common clinicopathological characteristics are shared by different neurodegenerative diseases. Consequently, we conducted a large sample study to investigate associations between these variants and PD, multiple system atrophy (MSA), and amyotrophic lateral sclerosis (ALS) in Chinese populations...
March 21, 2018: Journal of Molecular Neuroscience: MN
David Curtis, Leda Coelewij, Shou-Hwa Liu, Jack Humphrey, Richard Mott
A previous study of exome-sequenced schizophrenia cases and controls reported an excess of singleton, gene-disruptive variants among cases, concentrated in particular gene sets. The dataset included a number of subjects with a substantial Finnish contribution to ancestry. We have reanalysed the same dataset after removal of these subjects and we have also included non-singleton variants of all types using a weighted burden test which assigns higher weights to variants predicted to have a greater effect on protein function...
March 21, 2018: Behavior Genetics
Mariana Volpe Arnoni, Claudete Rodrigues Paula, Marcos Ereno Auler, Cirilo Cesar Naozuka Simões, Shirley Nakano, Maria Walderez Szeszs, Márcia de Souza Carvalho Melhem, Virgínia Bodelão Richini Pereira, Hans Garcia Garces, Eduardo Bagagli, Eriques Gonçalves Silva, Melissa Ferreira de Macêdo, Luciana da Silva Ruiz
Fusarium species have emerged as responsible for a broad spectrum of infections, including superficial, locally invasive and disseminated ones, especially in the hospital environment. Since there are few reports of invasive and disseminated fusariosis in children, the aim of this study was to report four cases of nosocomial infection caused by this microorganism in children with cancer hospitalized in a public children's hospital located in Brazil. Two of these patients were female and two were male. All patients presented febrile neutropenia, while three patients had acute lymphocytic leukemia and one patient had Wilms' tumor as underlying disease...
March 21, 2018: Mycopathologia
Xin Li, Goran Papenberg, Grégoria Kalpouzos, Lars Bäckman, Jonas Persson
Dopaminergic neuromodulation is critically important for brain and cognitive integrity. The DRD2/ANKK1 Taq1A polymorphism is associated with striatal dopamine (DA) D2 receptor availability. Some previous studies have found that the A allele of the Taq1A polymorphism influences brain structure, but the results are inconsistent, likely due to population heterogeneity and small sample sizes. We investigated the genetic effect on caudate volume in a large sample of older adults without dementia. Results show that A-allele carriers have smaller caudate volume compared to non-carriers in relatively older adults (n = 167; Mage = 77...
March 21, 2018: Brain Structure & Function
G J Ma, Q J Song, S G Markell, L L Qi
A novel rust resistance gene, R15 , derived from the cultivated sunflower HA-R8 was assigned to linkage group 8 of the sunflower genome using a genotyping-by-sequencing approach. SNP markers closely linked to R15 were identified, facilitating marker-assisted selection of resistance genes. The rust virulence gene is co-evolving with the resistance gene in sunflower, leading to the emergence of new physiologic pathotypes. This presents a continuous threat to the sunflower crop necessitating the development of resistant sunflower hybrids providing a more efficient, durable, and environmentally friendly host plant resistance...
March 21, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
Sherwin K B Sy, Yen Lin Chia, Toufigh Gordi, Ute Hoch, Michael A Eldon
PURPOSE: Etirinotecan pegol (EP), a long-acting topoisomerase-1 inhibitor, is a polyethylene glycol conjugate of irinotecan, with an intended indication for treatment of breast cancer with brain metastases. The objective of this study was to develop a population pharmacokinetic (popPK) model of EP and four of its metabolites (irinotecan, SN38, SN38-glucuronide, and APC) and determine covariates affecting their pharmacokinetics. METHODS: Data from 83 cancer patients enrolled in phase 1 studies were used...
March 21, 2018: Cancer Chemotherapy and Pharmacology
Jan Halbritter, Anna Seidel, Luise Müller, Ria Schönauer, Bernd Hoppe
Kidney stone disease is an increasingly prevalent condition with remarkable clinical heterogeneity, with regards to stone composition, age of manifestation, rate of recurrence, and impairment of kidney function. Calcium-based kidney stones account for the vast majority of cases, but their etiology is poorly understood, notably their genetic drivers. As recent studies indicate, hereditary conditions are most likely underestimated in prevalence, and new disease genes are constantly being identified. As a consequence, there is an urgent need of a more efficient documentation and collection of cases with underlying hereditary conditions, to better understand shared phenotypic presentation and common molecular mechanisms...
2018: Frontiers in Pediatrics
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