Read by QxMD icon Read


Luca Lovrečić, Polona Rajar, Marija Volk, Sara Bertok, Barbara Gnidovec Stražišar, Damjan Osredkar, Maja Jekovec Vrhovšek, Borut Peterlin
Autism spectrum disorder (ASD) is a group of the neurodevelopment disorders presenting as an isolated ASD or more complex forms, where a broader clinical phenotype comprised of developmental delay and intellectual disability is present. Both the isolated and complex forms have a significant causal genetic component and submicroscopic genomic copy number variations (CNV) are the most common identifiable genetic factor in these patients. The data on microarray testing in ASD cohorts are still accumulating and novel loci are often identified; therefore, we aimed to evaluate the diagnostic efficacy of the method and the relevance of implementing it into routine genetic testing in ASD patients...
March 21, 2018: Journal of Applied Genetics
DaYang Chen, HeFu Zhen, Yong Qiu, Ping Liu, Peng Zeng, Jun Xia, QianYu Shi, Lin Xie, Zhu Zhu, Ya Gao, GuoDong Huang, Jian Wang, HuanMing Yang, Fang Chen
Research based on a strategy of single-cell low-coverage whole genome sequencing (SLWGS) has enabled better reproducibility and accuracy for detection of copy number variations (CNVs). The whole genome amplification (WGA) method and sequencing platform are critical factors for successful SLWGS (<0.1 × coverage). In this study, we compared single cell and multiple cells sequencing data produced by the HiSeq2000 and Ion Proton platforms using two WGA kits and then comprehensively evaluated the GC-bias, reproducibility, uniformity and CNV detection among different experimental combinations...
March 21, 2018: Scientific Reports
Guillaume Huguet, Catherine Schramm, Elise Douard, Lai Jiang, Aurélie Labbe, Frédérique Tihy, Géraldine Mathonnet, Sonia Nizard, Emmanuelle Lemyre, Alexandre Mathieu, Jean-Baptiste Poline, Eva Loth, Roberto Toro, Gunter Schumann, Patricia Conrod, Zdenka Pausova, Celia Greenwood, Tomas Paus, Thomas Bourgeron, Sébastien Jacquemont
Importance;: Copy number variants (CNVs) classified as pathogenic are identified in 10% to 15% of patients referred for neurodevelopmental disorders. However, their effect sizes on cognitive traits measured as a continuum remain mostly unknown because most of them are too rare to be studied individually using association studies. Objective: To measure and estimate the effect sizes of recurrent and nonrecurrent CNVs on IQ. Design, Setting, and Participants: This study identified all CNVs that were 50 kilobases (kb) or larger in 2 general population cohorts (the IMAGEN project and the Saguenay Youth Study) with measures of IQ...
March 21, 2018: JAMA Psychiatry
Gabrielle Bradshaw, Robbie R Lualhati, Cassie L Albury, Neven Maksemous, Deidre Roos-Araujo, Robert A Smith, Miles C Benton, David A Eccles, Rod A Lea, Heidi G Sutherland, Larisa M Haupt, Lyn R Griffiths
Background: We investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood. Aim: To identify causative functional genetic variants related to an undiagnosed primary immunodeficiency. Method: Whole genome microarray copy number variant (CNV) analysis was performed on the proband followed by whole exome sequencing (WES) and trio analysis of the proband and family members...
2018: Frontiers in Immunology
Ahmed Al-Janabi, Sue Lightman, Oren Tomkins-Netzer
Statins are known for their blood cholesterol-lowering effect and are widely used in patients with cardiovascular and metabolic diseases. Research over the past three decades shows that statins have diverse effects on different pathophysiological pathways involved in angiogenesis, inflammation, apoptosis, and anti-oxidation, leading to new therapeutic options. Recently, statins have attracted considerable attention for their immunomodulatory effect. Since immune reactivity has been implicated in a number of retinal diseases, such as uveitis, age-related macular degeneration (AMD) and diabetic retinopathy, there is now a growing body of evidence supporting the beneficial effects of statins in these retinopathies...
March 20, 2018: Eye
Lindsay A Holden, Kim H Brown
Common strains of wildtype zebrafish (Danio rerio) have unique genomic features including SNPs and CNV, but strain information often goes unreported in the literature. As a result, the confounding effects of interstrain variation makes repetition of studies in zebrafish challenging. Here we analyze hepatic mRNA expression patterns between three common zebrafish strains (AB, Tuebingen (TU), and WIK) using Agilent 4 × 44 K gene expression microarrays to establish baseline mRNA expression across strains and between sexes...
March 19, 2018: Scientific Reports
Chiara Preziosa, Federico Corvi, Marco Pellegrini, Sara Bochicchio, Ana P Rosar, Giovanni Staurenghi
BACKGROUND/PURPOSE: To document by optical coherence tomography angiography, the onset of a choroidal neovascularization (CNV) secondary to traumatic choroidal rupture and describe its changes after an intravitreal injection of bevacizumab. METHODS: Case report. RESULTS: A 20-year-old woman presented referring vision loss after a blunt ocular trauma in her left eye. The patient underwent a complete ophthalmic examination. Best-corrected visual acuity was 20/200...
March 16, 2018: Retinal Cases & Brief Reports
Erik M Benau, Laura C DeLoretta, Stephen T Moelter
In the present study, healthy undergraduates were asked to identify if a visual stimulus appeared on screen for the same duration as a memorized target (2 s) while event-related potentials (ERP) were recorded. Trials consisted of very short (1.25 s), short (1.6 s), target (2 s), long (2.5 s) or very long (3.125 s) durations, and a yes or no response was required on each trial. We examined behavioral response as signal detection (d') and response bias via a Generalized Accuracy Coefficient (GAC)...
March 15, 2018: Brain and Cognition
Vincent Daien, Vuong Nguyen, Nigel Morlet, Jennifer J Arnold, Rohan W Essex, Stephanie Young, Alex Hunyor, Mark C Gillies, Daniel Barthelmes
PURPOSE: To evaluate outcomes and predictive factors of visual acuity (VA) change after cataract surgery in patients being treated for neovascular age-related macular degeneration (nAMD). DESIGN: Retrospective, matched case-control study. METHODS: We studied eyes undergoing cataract surgery that had been tracked since they first started treatment for nAMD. These eyes were compared with a cohort of unoperated phakic eyes being treated for nAMD (three per case) matched for treatment duration before cataract surgery, baseline VA, age and length of follow-up...
March 14, 2018: American Journal of Ophthalmology
François-Xavier Nouhaud, France Blanchard, Richard Sesboue, Jean-Michel Flaman, Jean-Christophe Sabourin, Christian Pfister, Frédéric Di Fiore
BACKGROUND: Gene copy number variations (CNVs) have been reported to be frequent in renal cell carcinoma (RCC), with potential prognostic value for some. However, their clinical utility, especially to guide treatment of metastatic disease remains to be established. Our objectives were to assess CNVs on a panel of selected genes and determine their clinical relevance in patients who underwent treatment of metastatic RCC. PATIENTS AND METHODS: The genetic assessment was performed on frozen tissue samples of clear cell metastatic RCC using quantitative multiplex polymerase chain reaction of short fluorescent fragment method to detect CNVs on a panel of 14 genes of interest...
February 23, 2018: Clinical Genitourinary Cancer
Yi Pang, Yunfeng Guan, Xing Jin, Hongmei Shen, Lixiang Liu, Qingzhen Jia, Fangang Meng, Xiaoye Zhang
Thyroid-stimulating hormone (TSH) is secreted by the pituitary gland and promotes thyroid growth and function, with increased TSH levels typically associated with hypothyroidism. By consulting the literature, we found that the TSHR, PAX8, and PDE4B genes are associated with thyroid function. Recently, copy number variations (CNVs) have been used as genetic markers to investigate inter-individual variation. Therefore, we investigated the relationship between the TSHR, PAX8, and PDE4B gene CNVs and TSH abnormalities, by calculating variations in gene copy number...
March 15, 2018: Biological Trace Element Research
Thomas Liehr, Isolde Schreyer, Alma Kuechler, Emmanouil Manolakos, Sylke Singer, Andreas Dufke, Kathleen Wilhelm, Tereza Jančušková, Radek Čmejla, Moneeb A K Othman, Ahmed H Al-Rikabi, Kristin Mrasek, Monika Ziegler, Stefanie Kankel, Katharina Kreskowski, Anja Weise
Background: Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential parental origin of a specific CNV either by molecular karyotyping or by two color fluorescence in situ hybridization (FISH), yet. In the latter case a critical region probe (CRP) is combined with a control probe for identification of the chromosome in question. However, CNVs can arise also due to other reasons, like a recombination-event based on a submicroscopic, cryptic inversion in one of the parents...
2018: Molecular Cytogenetics
Eric W Schneider, Samuel C Fowler
PURPOSE OF REVIEW: Optical coherence tomography angiography (OCT-A) provides rapid, flow-based imaging of the retinal and choroidal vasculature in a noninvasive manner. This review contrasts this novel technique with conventional angiography and discusses its current uses and limitations in the management of age-related macular degeneration (AMD). RECENT FINDINGS: Initial work with OCT-A has focused on its ability to identify choriocapillaris flow alterations in dry AMD and to sensitively detect choroidal neovascular membranes (CNVs) in neovascular AMD...
March 13, 2018: Current Opinion in Ophthalmology
Claudia Brockmann, Norbert Kociok, Sabrina Dege, Anja-Maria Davids, Tobias Brockmann, Kelly R Miller, Antonia M Joussen
PURPOSE: To assess the influence of retinal macrophages and microglia on the formation of choroidal neovascularization (CNV). Therefore, we used a transgenic mouse (CD11b-HSVTK) in which the application of ganciclovir (GCV) results in a depletion of CD11b+ cells. METHODS: We first investigated if a local depletion of CD11b+ macrophages and microglia in the retina is feasible. In a second step, the influence of CD11b+ cell depletion on CNV formation was analysed...
March 14, 2018: Acta Ophthalmologica
Hema Singh, Pradeep Tiwari, Vijay Bhavi, Praveen Singh Chaudhary, Prashanth Suravajhala, M Krishna Mohan, Sandeep Kumar Mathur
Background: Human height is a classic polygenic trait and currently available data explains only 10% of the phenotypic variation in height. Almost 60%-80% of the children coming to pediatric and endocrinology outpatient department for the evaluation of short stature are still labeled as idiopathic. Objectives: The aim of this study is to identify various chromosomal alterations causing idiopathic short stature (ISS) and short stature with dysmorphic features not pertaining to known genetic syndromes...
January 2018: Indian Journal of Endocrinology and Metabolism
Adrian F Daly, Emily Castermans, Lindsey Oudijk, Mirtha A Guitelman, Pablo Beckers, Iulia Potorac, Sebastian J C M M Neggers, Nathalie Sacre, Aj Van der Lely, Vincent Bours, Wouter W de Herder, Albert Beckers
Copy number variations (CNV), an important genetic mechanism in inherited tumor genetics, can affect large genetic regions or can be limited to smaller regions within genes, such deletions of single exons. Such exon deletions can be challenging to identify and sequencing can be normal in these cases. Multiplex ligation dependent probe amplification (MLPA) can identify CNV of individual exons. Mutations in the MAX gene are associated with a risk of sporadic and hereditary pheochromocytoma. As mutations in other pheochromocytoma related genes can also cause pituitary tumors (3P-Association), we studied whether MAX exon deletions were involved in the etiology of patients with an unexplained association of multiple endocrine neoplasia including pituitary adenoma and pheochromocytoma...
March 13, 2018: Endocrine-related Cancer
Kon-Ichi Arai, Tsutomu Yasukawa, Aki Kato, Ayae Kubota, Hideaki Usui, Noriaki Takase, Soichiro Kuwayama, Yuichiro Ogura
AIMS: Anti-vascular endothelial growth factor agents effectively treat age-related macular degeneration and myopic choroidal neovascularization (CNV). Tissue plasminogen activator (tPA), a fibrinolytic compound, is used as an adjuvant to displace submacular hemorrhage and to treat type 2 CNV. The purpose of this study was to investigate in in vitro and in vivo experiments the antiangiogenic impact of tPA itself. METHODS: The impact of tPA on the proliferation of human umbilical vein endothelial cells (HUVECs) was assessed by an XTT assay [2,3-bis-(2-methoxy-4-nitro-5-sulfophenyl)-2H-tetrazolium-5-carboxanilide]...
March 13, 2018: Ophthalmic Research
Claudio Toma, Alex D Shaw, Richard J N Allcock, Anna Heath, Kerrie D Pierce, Philip B Mitchell, Peter R Schofield, Janice M Fullerton
Bipolar disorder (BD) is a complex psychiatric condition with high heritability, the genetic architecture of which likely comprises both common variants of small effect and rare variants of higher penetrance, the latter of which are largely unknown. Extended families with high density of illness provide an opportunity to map novel risk genes or consolidate evidence for existing candidates, by identifying genes carrying pathogenic rare variants. We performed whole-exome sequencing (WES) in 15 BD families (117 subjects, of whom 72 were affected), augmented with copy number variant (CNV) microarray data, to examine contributions of multiple classes of rare genetic variants within a familial context...
March 13, 2018: Translational Psychiatry
David R Martin, Elisa LaBauve, Joseph M Pomo, Vi K Chiu, Joshua A Hanson, Rama R Gullapalli
The major categories of pancreatic neuroendocrine tumor (PanNET) are well-differentiated NET and poorly differentiated neuroendocrine carcinoma. Sequencing of these tumors has identified multiple important genes in the pathogenesis of PanNETs, such as DAXX/ATRX, MEN1, TP53, RB, and mTOR pathway genes. We identified a case of well-differentiated PanNET with high-grade progression with simultaneous low- and high-grade histologic regions containing variable genomic profiles. We performed tumor microdissection and analyzed both regions using a 409-gene comprehensive cancer panel using next-generation sequencing in addition to immunohistochemical and morphologic studies...
April 2018: Pancreas
Marcos Vinicius Antunes de Lemos, Elisa Peripolli, Mariana Piatto Berton, Fabiele Loise Braga Feitosa, Bianca Ferreira Olivieri, Nedenia Bonvino Stafuzza, Rafael Lara Tonussi, Sabrina Kluska, Hermenegildo Lucas Justino Chiaia, Lenise Mueller, Adrielli Mathias Ferrinho, Angelica Simone Cravo Prereira, Henrique Nunes de Oliveira, Lucia Galvão de Albuquerque, Fernando Baldi
The aim of this study was to analyze the association between the copy number variation regions (CNVRs) and fatty acid profile phenotypes for saturated (SFA), monosaturated (MUFA), polyunsaturated (PUFA), ω6 and ω3 fatty acids, PUFA/SFA and ω6/ω3 ratios, as well as for their sums, in Nellore cattle (Bos primigenius indicus). A total of 963 males were finished in feedlot and slaughtered with approximately 2 years of age. Animals were genotyped with the BovineHD BeadChip (Illumina Inc., San Diego, CA, USA)...
March 8, 2018: Journal of Applied Genetics
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"