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https://www.readbyqxmd.com/read/28550723/tyrosine-receptor-kinase-b-gene-variants-ntrk2-variants-are-associated-with-depressive-disorders-in-temporal-lobe-epilepsy
#1
Carolina Machado Torres, Marina Siebert, Hugo Bock, Suelen Mandelli Mota, Juliana Unis Castan, Francisco Scornavacca, Luiza Amaral de Castro, Maria Luiza Saraiva-Pereira, Marino Muxfeldt Bianchin
RATIONALE: Psychiatric comorbidities are highly prevalent in epilepsy, adding an important burden to the disease and profoundly affecting the quality of life of these individuals. Patients with temporal lobe epilepsy (TLE) are especially at risk to develop depression and several lines of evidence suggest that the association of depression with epilepsy might be related to common biological substrates. In this study, we test whether NTRK2 allele variants are associated with mood disorders or depressive disorders in patients with TLE...
May 24, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28550590/exome-sequencing-identifies-candidate-genetic-modifiers-of-syndromic-and-familial-thoracic-aortic-aneurysm-severity
#2
Benjamin J Landis, Jeffrey A Schubert, Dongbing Lai, Anil G Jegga, Amy R Shikany, Tatiana Foroud, Stephanie M Ware, Robert B Hinton
Thoracic aortic aneurysm (TAA) is a genetic disease predisposing to aortic dissection. It is important to identify the genetic modifiers controlling penetrance and expressivity to improve clinical prognostication. Exome sequencing was performed in 27 subjects with syndromic or familial TAA presenting with extreme phenotypes (15 with severe TAA; 12 with mild or absent TAA). Family-based analysis of a subset of the cohort identified variants, genes, and pathways segregating with TAA severity among three families...
May 26, 2017: Journal of Cardiovascular Translational Research
https://www.readbyqxmd.com/read/28550484/respiratory-involvement-in-ambulant-and-non-ambulant-patients-with-facioscapulohumeral-muscular-dystrophy
#3
Sandra Moreira, Libby Wood, Debbie Smith, Chiara Marini-Bettolo, Michela Guglieri, Grace McMacken, Geraldine Bailey, Anna Mayhew, Robert Muni-Lofra, Gail Eglon, Maggie Williams, Volker Straub, Hanns Lochmüller, Teresinha Evangelista
Understand the occurrence and predictors of respiratory impairment in FSHD. Data from 100 FSHD patients was collected regarding demographics, genetics, respiratory status and pulmonary function tests, clinical manifestations and Clinical Severity Scale (CSS) scores. Patients were assigned to two severity groups using CSS: mild (scores <3.5) and moderate/severely affected (scores ≥3.5). Forced Vital Capacity (FVC) was classified as severely impaired if less than 50% of the predicted. Statistical analysis was performed using IBM SPSS Statistics 23, tests were two-tailed and the level of significance set at 5%...
May 26, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28550091/transgenic-expression-of-il15-improves-antiglioma-activity-of-il13ralpha2-car-t-cells-but-results-in-antigen-loss-variants
#4
Giedre Krenciute, Brooke L Prinzing, Zhongzhen Yi, Meng-Fen Wu, Hao Liu, Gianpietro Dotti, Irina V Balyasnikova, Stephen Gottschalk
Glioblastoma (GBM) is the most aggressive primary brain tumor in adults and is virtually incurable with conventional therapies. Immunotherapy with T cells expressing GBM-specific chimeric antigen receptors (CARs) is an attractive approach to improve outcomes. Although CAR T cells targeting GBM antigens such as IL13Ralpha2 (interleukin 13 Receptor Subunit Alpha 2), HER2 (human epidermal growth factor receptor 2), and EGFRvIII (epidermal growth factor receptor variant III) have had antitumor activity in preclinical models, early phase clinical testing has demonstrated limited antiglioma activity...
May 26, 2017: Cancer Immunology Research
https://www.readbyqxmd.com/read/28550089/advancing-precision-medicine-in-healthcare
#5
Olivia M Dong, Tim Wiltshire
The incorporation of precision medicine into the clinical setting is becoming increasingly feasible with the availability of more affordable genetic sequencing technologies and successful genetic associations with phenotypes, especially in the pharmacogenomic field. Although substantial progress has been made to ensure successful uptake of pharmacogenomic testing in the clinical setting already, many challenges still remain for sustainable implementation. The importance of pharmacogenomic information in patient care, identifying key barriers, and proposed solutions for advancing pharmacogenomic implementation will be discussed...
May 26, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28550066/rapid-whole-genome-sequencing-identifies-a-novel-homozygous-npc1-variant-associated-with-niemann-pick-type-c1-disease-in-a-7-week-old-male-with-cholestasis
#6
Amber Hildreth, Kristen Wigby, Shimul Chowdhury, Shareef Nahas, Jaime Barea, Paulina Ordonez, Serge Batalov, David M Dimmock, Rcigm Investigators, Stephen F Kingsmore
Niemann-Pick Type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in NPC1. While characterized as a progressive neurological disorder, it can also cause cholestasis and liver dysfunction due to intrahepatocyte lipid accumulation. We report a 7 week old who was admitted with neonatal cholestasis, who was diagnosed with a novel homozygous stop-gain variant in NPC1 by rapid whole genome sequencing (WGS)...
May 26, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28549950/spray-stability-of-self-assembled-filaments-for-delivery
#7
Abdullah Mahmud, Takamasa Harada, Karthikan Rajagopal, David A Christian, Praful Nair, Ryan Murphy, Dennis E Discher
Filamentous viruses are common in nature and efficiently deliver - sometimes via aerosol - genetic material, viral proteins, and other factors to animals and plants. Aerosolization can be a severe physicochemical test of the stability of any filamentous assembly whether it is made from natural polymers such as viral proteins or synthetic polymers. Here, worm-like "filomicelles" that self-assemble in water from amphiphilic block copolymers were investigated as aerosolized delivery vehicles. After spraying and drying, fluorophore-loaded filomicelles that were originally ~10-20μm long could be imaged as 2-5μm long fragments that survived rehydration on natural and artificial surfaces (i...
May 23, 2017: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/28549927/molecular-classification-of-adult-diffuse-gliomas-conflicting-idh1-idh2-atrx-and-1p-19q-results
#8
Leomar Y Ballester, Jason T Huse, Guilin Tang, Gregory N Fuller
Until recently, the diagnosis of brain tumors was primarily based on microscopic examination of hematoxylin and eosin (H&E) stained tissue sections. The updated World Health Organization (WHO) classification of tumours of the central nervous system (CNS) incorporates genetic alterations into the classification system, with the goal of creating more homogenous disease categories with greater prognostic value. Hence, under the new classification system the diagnosis of diffuse gliomas incorporates the evaluation of mutations in the IDH1 and IDH2 genes and simultaneous deletion of chromosomes 1p and 19...
May 23, 2017: Human Pathology
https://www.readbyqxmd.com/read/28549722/deficient-prepulse-inhibition-in-schizophrenia-in-a-multi-site-cohort-internal-replication-and-extension
#9
Neal R Swerdlow, Gregory A Light, Michael L Thomas, Joyce Sprock, Monica E Calkins, Michael F Green, Tiffany A Greenwood, Raquel E Gur, Ruben C Gur, Laura C Lazzeroni, Keith H Nuechterlein, Allen D Radant, Larry J Seidman, Larry J Siever, Jeremy M Silverman, William S Stone, Catherine A Sugar, Debby W Tsuang, Ming T Tsuang, Bruce I Turetsky, David L Braff
BACKGROUND: The Consortium on the Genetics of Schizophrenia (COGS) collected case-control endophenotype and genetic information from 2457 patients and healthy subjects (HS) across 5 test sites over 3.5 years. Analysis of the first "wave" (W1) of 1400 subjects identified prepulse inhibition (PPI) deficits in patients vs. HS. Data from the second COGS "wave" (W2), and the combined W(1+2), were used to assess: 1) the replicability of PPI deficits in this design; 2) the impact of response criteria on PPI deficits; and 3) PPI in a large cohort of antipsychotic-free patients...
May 23, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28549651/enriched-environment-alters-the-behavioral-profile-of-tenascin-c-deficient-mice
#10
V Stamenkovic, I Milenkovic, N Galjak, V Todorovic, P Andjus
Tenascin-C (TnC) is an extracellular matrix glycoprotein implicated in a variety of processes ranging from brain development to synaptic plasticity in the adult vertebrates. Although the role of the TnC gene in regulation of behavior has been investigated, it remained elusive how TnC deficiency interacts with the environment in shaping the behavioral phenotype. To address this, 3-week-old TnC+/+ and TnC-/- male mice were housed over an 8-week period in standard conditions (SC), or enriched environment (EE)...
May 23, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28549494/antimicrobial-susceptibility-testing-and-molecular-characterization-of-mycobacterium-fortuitum-isolates-in-china
#11
Hui Wen Zheng, Yu Pang, Guang Xue He, Yuan Yuan Song, Yan Lin Zhao
We performed molecular identification of clinical isolates of Mycobacterium fortuitum (M. fortuitum) and conducted drug susceptibility testing to analyze the in vitro susceptibility of clinical M. fortuitum isolates and potential molecular mechanism conferring resistance to fluoroquinolone and macrolide drugs. The results showed that moxifloxacin had the highest in vitro activity against M. fortuitum, and most M. fortuitum isolates were resistant to clarithromycin and linezolid in China. The loss of genetic mutation in clarithromycin- and amikacin-resistant isolates indicates that some other intrinsic mechanism conferring clarithromycin and amikacin resistance plays an essential role in M...
May 2017: Biomedical and Environmental Sciences: BES
https://www.readbyqxmd.com/read/28549454/genomic-adaptation-to-agricultural-environments-cabbage-white-butterflies-pieris-rapae-as-a-case-study
#12
Kristin L Sikkink, Megan E Kobiela, Emilie C Snell-Rood
BACKGROUND: Agricultural environments have long presented an opportunity to study evolution in action, and genomic approaches are opening doors for testing hypotheses about adaptation to crops, pesticides, and fertilizers. Here, we begin to develop the cabbage white butterfly (Pieris rapae) as a system to test questions about adaptation to novel, agricultural environments. We focus on a population in the north central United States as a unique case study: here, canola, a host plant, has been grown during the entire flight period of the butterfly over the last three decades...
May 26, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28549203/polymorphisms-in-the-melatonin-receptor-gene-promoter-and-their-associations-with-fertility-characteristics-in-buffalo-herd-in-eastern-amazon
#13
E M Barbosa, B B Souza, R C Guimarães, L K N Silva, J S N Azevedo, E C Gonçalves, H F L Ribeiro, S T Rolim Filho, E Silva Filho
Buffalo production is spreading globally because of its economic advantage. Then, it has become necessary to improve the reproductive and productive efficiency of these animals, as well as to look for genetic factors that increase this efficiency. The objectives of this study were to characterize the promoter region of the melatonin 1A receptor gene (MTRN1A), to detect possible SNPs and associate them with fertility characteristics, and identify binding sites of transcription factors involved in the regulation of genetic expression in buffaloes in the Amazon...
May 25, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28549185/visibility-and-persistence-of-marker-dyes-and-effect-on-the-quality-and-mating-competitiveness-of-mass-reared-flies-diptera-tephritidae-anastrepha-obliqua-and-bisexual-and-genetic-sexing-tapachula-7-strains-of-a-ludens
#14
José Arredondo, Lia Ruiz, Gladis López, Francisco Díaz-Fleischer
Fluorescent dyes are commonly used in the sterile insect technique (SIT) for marking insects for a proper identification after recapture. However, the quality of the mark must be balanced against insect performance, because dyes can negatively affect some parameters of insect performance and reduce their effectiveness in control with the SIT. We determined the visibility and persistence and the effect of dyes on the quality of Anastrepha obliqua (Macquart) and Anastrepha ludens (Loew) (bisexual and genetic sexing strains) by testing four concentrations of a dye (Day-Glo) from 0 to 2...
May 26, 2017: Journal of Economic Entomology
https://www.readbyqxmd.com/read/28549175/selfing-in-haploid-plants-and-efficacy-of-selection-codon-usage-bias-in-the-model-moss-physcomitrella-patens
#15
Péter Szövényi, Kristian K Ullrich, Stefan A Rensing, Daniel Lang, Nico van Gessel, Hans K Stenøien, Elena Conti, Ralf Reski
Long term reduction in effective population size will lead to major shift in genome evolution. In particular, when effective population size is small, genetic drift becomes dominant over natural selection. The onset of self-fertilization is one evolutionary event considerably reducing effective size of populations. Theory predicts that this reduction should be more dramatic in organisms capable for haploid than for diploid selfing. Although theoretically well-grounded, this assertion received mixed experimental support...
May 26, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28549097/cluster-of-neisseria-gonorrhoeae-isolates-with-high-level-azithromycin-resistance-and-decreased-ceftriaxone-susceptibility-hawaii-2016
#16
Alan R Katz, Alan Y Komeya, Robert D Kirkcaldy, A Christian Whelen, Olusegun O Soge, John R Papp, Ellen N Kersh, Glenn M Wasserman, Norman P O'Connor, Pamela S O'Brien, Douglas T Sato, Eloisa V Maningas, Gail Y Kunimoto, Juval E Tomas
Background.: The Centers for Disease Control and Prevention (CDC) currently recommends dual therapy with ceftriaxone and azithromycin for gonorrhea to ensure effective treatment and slow emergence of antimicrobial resistance. Since 2013, the prevalence of reduced azithromycin susceptibility increased in the United States; however, these strains were highly susceptible to cephalosporins. We report on a cluster of N. gonorrhoeae isolates demonstrating high-level azithromycin resistance, several of which also demonstrated decreased ceftriaxone susceptibility...
May 26, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28549077/clinical-criteria-for-subtyping-parkinson-s-disease-biomarkers-and-longitudinal-progression
#17
Seyed-Mohammad Fereshtehnejad, Yashar Zeighami, Alain Dagher, Ronald B Postuma
Parkinson's disease varies widely in clinical manifestations, course of progression and biomarker profiles from person to person. Identification of distinct Parkinson's disease subtypes is of great priority to illuminate underlying pathophysiology, predict progression and develop more efficient personalized care approaches. There is currently no clear way to define and divide subtypes in Parkinson's disease. Using data from the Parkinson's Progression Markers Initiative, we aimed to identify distinct subgroups via cluster analysis of a comprehensive dataset at baseline (i...
May 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28549019/ocular-genetics-in-taiwan
#18
Yu-Hung Lai, Kwou-Yeung Wu
PURPOSE OF REVIEW: Ocular genetics is an emerging specialty which has accompanied the advancement of modern genetic technology. This review is to understand the current status of practice in ocular genetics in Taiwan. RECENT FINDINGS: There is only one ocular genetics clinic in Taiwan. Certified clinical laboratories provide few gene tests in ocular genetics. Most ocular genetic study is focused on myopia. Financial obstacles are a major problem for patients to seek gene tests...
April 25, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28548558/the-role-of-genetic-testing-in-epilepsy-diagnosis-and-management
#19
Yvonne G Weber, Saskia Biskup, Katherine L Helbig, Sarah von Spiczak, Holger Lerche
Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, cortical development or synaptic transmission. A growing number of genetic variations have implications on diagnosis and prognostic or therapeutic advice in terms of a personalized medicine. Area covered: The review presents the different forms of genetic epilepsies with respect to their underlying genetic and functional pathophysiology and aims to give advice for recommended genetic testing...
May 26, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28548211/a-haplotype-block-downstream-of-plasminogen-is-associated-with-chronic-and-aggressive-periodontitis
#20
Matthias Munz, Hong Chen, Yvonne Jockel-Schneider, Knut Adam, Per Hoffman, Klaus Berger, Thomas Kocher, Jörg Meyle, Peter Eickholz, Christof Doerfer, Matthias Laudes, André Uitterlinden, Wolfgang Lieb, Andre Franke, Stefan Schreiber, Steven Offenbacher, Kimon Divaris, Corinna Bruckmann, Bruno G Loos, Soeren Jepsen, Henrik Dommisch, Arne S Schaefer
AIM: The intronic variant rs4252120 in the plasminogen gene (PLG) is known to be associated with aggressive periodontitis (AgP) and atherosclerosis. Here, we examined the chromosomal region spanning PLG for associations with both chronic periodontitis (CP) and AgP. MATERIAL AND METHODS: The association of PLG candidate rs4252120 was tested in a German case-control sample of 1,419 CP cases using the genotyping assay hCV11225947 and 4,562 controls, genotyped with HumanOmni BeadChips...
May 26, 2017: Journal of Clinical Periodontology
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