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https://www.readbyqxmd.com/read/28821505/tmprss2-erg-alters-the-cis-regulatory-landscape-and-activates-notch
#1
(no author information available yet)
In TMPRSS2-ERG-positive prostate tumors, ERG establishes new clusters of regulatory elements (CORE).
August 18, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28820625/multimodal-image-analysis-of-the-retina-in-hunter-syndrome-mucopolysaccharidosis-type-ii-case-report
#2
Isadora Darriba Macedo Salvucci, Simone Finzi, Maria Kiyoko Oyamada, Chong Ae Kim, Sérgio Luis Gianotti Pimentel
INTRODUCTION: We report a case of retinal and posterior ocular findings in a 33-year-old man diagnosed with Hunter syndrome (Mucopolysaccharidosis type II) in a multimodal imaging way. CASE PRESENTATION: Our patient was complaining of blurred night vision for the past 3 years. He had not received any systemic treatment for Hunter syndrome. Vision acuity was 20/20 in both eyes and corneas were clear. Fundus examination revealed bilateral crowded and hyperemic optic nerve heads (elevated in the ocular ultrasound) and areas of subretinal hypopigmentation...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28818668/a-bipolar-role-of-the-transcription-factor-erg-for-cnidarian-germ-layer-formation-and-apical-domain-patterning
#3
Aldine R Amiel, Hereroa Johnston, Taylor Chock, Paul Dahlin, Marta Iglesias, Michael Layden, Eric Röttinger, Mark Q Martindale
Germ layer formation and axial patterning are biological processes that are tightly linked during embryonic development of most metazoans. In addition to canonical WNT, it has been proposed that ERK-MAPK signaling is involved in specifying oral as well as aboral territories in cnidarians. However, the effector and the molecular mechanism underlying latter phenomenon is unknown. By screening for potential effectors of ERK-MAPK signaling in both domains, we identified a member of the ETS family of transcription factors, Nverg that is bi-polarily expressed prior to gastrulation...
August 14, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28815346/unilateral-cancer-associated-retinopathy-diagnosis-serology-and-treatment
#4
Dimitri Roels, Shinji Ueno, Cornelia D Talianu, Dafina Draganova, Mineo Kondo, Bart P Leroy
PURPOSE: To report a case of unilateral cancer-associated retinopathy (CAR) with clinical, serological and electroretinogram (ERG) normalization after aggressive cancer treatment combined with steroids and rituximab. METHODS: Work-up included extensive clinical and electrophysiological testing. Also, serological work-up for antiretinal antibodies and oncological screening was organized. RESULTS: A 45-year-old female presented with progressive photopsias, photophobia and relative central scotoma in the right eye since 6 weeks prior...
August 16, 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28813718/transgenic-mice-over-expressing-rbp4-have-rbp4-dependent-and-light-independent-retinal-degeneration
#5
Mei Du, Eric Phelps, Michael J Balangue, Aaron Dockins, Gennadiy Moiseyev, Younghwa Shin, Shelley Kane, Laura Otalora, Jian-Xing Ma, Rafal Farjo, Krysten M Farjo
Purpose: Transgenic mice overexpressing serum retinol-binding protein (RBP4-Tg) develop progressive retinal degeneration, characterized by microglia activation, yet the precise mechanisms underlying retinal degeneration are unclear. Previous studies showed RBP4-Tg mice have normal ocular retinoid levels, suggesting that degeneration is independent of the retinoid visual cycle or light exposure. The present study addresses whether retinal degeneration is light-dependent and RBP4-dependent by testing the effects of dark-rearing and pharmacological lowering of serum RBP4 levels, respectively...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28807541/urinary-rna-based-biomarkers-for-prostate-cancer-detection
#6
REVIEW
Filippo Martignano, Lorena Rossi, Antonio Maugeri, Valentina Gallà, Vincenza Conteduca, Ugo De Giorgi, Valentina Casadio, Giuseppe Schepisi
Prostate cancer (PCa) is the commonest malignancy in the male population worldwide. Serum prostate specific antigen (PSA) test is the most important biomarker for the detection, follow-up and therapeutic monitoring of PCa. Defects in PSA specificity have elicited research for new biomarkers to improve early diagnosis and avoid false-positive results. This review evaluates urinary RNA-based biomarkers. Urine is a versatile body fluid for non-invasive biomarker detection in case of urological malignancies. The importance of RNA-based biomarkers has been demonstrated by the current use of PCA3, a long non coding RNA biomarker already approved by the Food and Drugs Administration...
August 11, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28807045/a-randomized-multi-center-prospective-study-comparing-best-medical-treatment-versus-best-medical-treatment-plus-renal-artery-stenting-in-patients-with-hemodynamically-relevant-atherosclerotic-renal-artery-stenosis-radar-one-year-results-of-a-pre-maturely-terminated
#7
Thomas Zeller, Hans Krankenberg, Andrejs Erglis, Erwin Blessing, Torsten Fuss, Dierk Scheinert, Ralf Weser, Beatrix B Doerr, Wilfrid D Yollo, Joerg Radermacher
BACKGROUND: The indications for conservative "best medical treatment" (BMT) versus additional renal artery stenting are a matter of ongoing debate. The RADAR study aimed to evaluate the impact of percutaneous renal artery stenting on the impaired renal function in patients with hemodynamically significant atherosclerotic renal artery stenosis (RAS). METHODS: RADAR is an international, prospective, randomized (1:1) controlled study comparing BMT alone versus BMT plus renal artery stenting in patients with duplex sonographic hemodynamically relevant RAS...
August 14, 2017: Trials
https://www.readbyqxmd.com/read/28805820/prostate-cancer-associated-spop-mutations-confer-resistance-to-bet-inhibitors-through-stabilization-of-brd4
#8
Xiangpeng Dai, Wenjian Gan, Xiaoning Li, Shangqian Wang, Wei Zhang, Ling Huang, Shengwu Liu, Qing Zhong, Jianping Guo, Jinfang Zhang, Ting Chen, Kouhei Shimizu, Francisco Beca, Mirjam Blattner, Divya Vasudevan, Dennis L Buckley, Jun Qi, Lorenz Buser, Pengda Liu, Hiroyuki Inuzuka, Andrew H Beck, Liewei Wang, Peter J Wild, Levi A Garraway, Mark A Rubin, Christopher E Barbieri, Kwok-Kin Wong, Senthil K Muthuswamy, Jiaoti Huang, Yu Chen, James E Bradner, Wenyi Wei
The bromodomain and extraterminal (BET) family of proteins comprises four members-BRD2, BRD3, BRD4 and the testis-specific isoform BRDT-that largely function as transcriptional coactivators and play critical roles in various cellular processes, including the cell cycle, apoptosis, migration and invasion. BET proteins enhance the oncogenic functions of major cancer drivers by elevating the expression of these drivers, such as c-Myc in leukemia, or by promoting the transcriptional activities of oncogenic factors, such as AR and ERG in prostate cancer...
August 14, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28804970/arrhythmogenic-gene-remodelling-in-elderly-patients-with-type-2-diabetes-with-aortic-stenosis-and-normal-left-ventricular-ejection-fraction
#9
R Ashrafi, P Modi, A Y Oo, D M Pullan, K Jian, H Zhang, J Yanni Gerges, G Hart, M R Boyett, G K Davis, J P H Wilding
Type 2 diabetes is associated with higher rate of ventricular arrhythmias and this is hypothesised to be independent of coronary artery disease or hypertension. To investigate further we compared changes in left ventricular myocardial gene expression in Type 2 diabetes to patients in a control group with left ventricular hypertrophy. 9 control patients and 7 patients with type 2 diabetes with aortic stenosis undergoing aortic valve replacement had standard ECGs, signal averaged ECGs and echocardiograms prior to surgery...
August 14, 2017: Experimental Physiology
https://www.readbyqxmd.com/read/28798898/dark-adapted-chromatic-perimetry-for-measuring-rod-visual-fields-in-patients-with-retinitis-pigmentosa
#10
Lea D Bennett, Martin Klein, Kirsten G Locke, Kelly Kiser, David G Birch
PURPOSE: Although rod photoreceptors are initially affected in retinitis pigmentosa (RP), the full-field of rod vision is not routinely characterized due to the unavailability of commercial devices detecting rod sensitivity. The purpose of this study was to quantify rod-mediated vision in the peripheral field from patients with RP using a new commercially available perimeter. METHODS: Participants had one eye dilated and dark-adapted for 45 minutes. A dark-adapted chromatic (DAC) perimeter tested 80 loci 144° horizontally and 72° vertically with cyan stimuli...
July 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28796566/pomegranate-protective-effect-on-experimental-ischemia-reperfusion-retinal-injury-in-rats-histological-and-biochemical-study
#11
Hala E Hashem, Manal R Abd El-Haleem, Mona G Amer, Ashraf Bor'i
Oxidative stress is one mechanism involved in the pathogenesis of ischemia/reperfusion (/R) retinal injury. The histological, biochemical, and functional changes associated with pomegranate (PMG) treatment prior to retinal I/R were analyzed using 40 adult male albino rats. Rats were divided into four groups: Groups I and II (sham operated and received saline or PMG, respectively); Groups III and IV (I/R rat models with prior administration of saline or 250 mg/kg/day PMG, respectively). Electroretinogram (ERG) results were recorded and eye specimens were taken and processed for light and electron microscopic examinations and for assessment of oxidative status in retinal homogenate...
August 10, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28795295/predictive-value-of-n95-waveforms-of-pattern-electroretinograms-pergs-in-children-with-optic-nerve-hypoplasia-onh
#12
Daphne McCulloch, Pamela Garcia-Filion, Cassandra Fink, Anthony C Fisher, Antonio Eleuteri, Mark S Borchert
PURPOSE: As part of a long-term, prospective study of prenatal and clinical risk factors for optic nerve hypoplasia (ONH) at Children's Hospital Los Angeles, pattern ERGs (PERGs) were evaluated for prognostic value using an automated objective and robust analytical method. METHODS: Participants were 33 children with ophthalmoscopically diagnosed ONH [disc diameter-to-disc macula ratio (DD/DM) less than 0.35 in one or both eyes on fundus photographs]. Using cycloplegia and chloral hydrate sedation in one session before 26 months of age, we recorded PERGs to checkerboard reversal using five check sizes...
August 9, 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28795130/epithelioid-angiosarcoma-of-the-vulva-a-case-report
#13
S Yost, J Bradish, L Grossheim, A Hoekstra
•Vulvar angiosarcoma in a patient with pelvic radiation and chronic lymphedema•Epithelioid histologic staining positive for vimentin, ERG, CD31•Gross appearance of violaceous hyperpigmentation of the mons pubis.
August 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/28783165/tmprss2-erg-fusion-co-opts-master-transcription-factors-and-activates-notch-signaling-in-primary-prostate-cancer
#14
Ken J Kron, Alexander Murison, Stanley Zhou, Vincent Huang, Takafumi N Yamaguchi, Yu-Jia Shiah, Michael Fraser, Theodorus van der Kwast, Paul C Boutros, Robert G Bristow, Mathieu Lupien
TMPRSS2-ERG (T2E) structural rearrangements typify ∼50% of prostate tumors and result in overexpression of the ERG transcription factor. Using chromatin, genomic and expression data, we show distinct cis-regulatory landscapes between T2E-positive and non-T2E primary prostate tumors, which include clusters of regulatory elements (COREs). This difference is mediated by ERG co-option of HOXB13 and FOXA1, implementing a T2E-specific transcriptional profile. We also report a T2E-specific CORE on the structurally rearranged ERG locus arising from spreading of the TMPRSS2 locus pre-existing CORE, assisting in its overexpression...
August 7, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28767419/b-lymphoblastic-leukemia-lymphoma-new-insights-into-genetics-molecular-aberrations-subclassification-and-targeted-therapy
#15
Xiaohui Zhang, Prerna Rastogi, Bijal Shah, Ling Zhang
B lymphoblastic leukemia/lymphoma (B-ALL) is a clonal hematopoietic stem cell neoplasm derived from B-cell progenitors, which mostly occurs in children and adolescents and is regarded as one of top leading causes of death related to malignancies in this population. Despite the majority of patients with B-ALL have fairly good response to conventional chemotherapeutic interventions followed by hematopoietic stem cell transplant for the last decades, a subpopulation of patients show chemo-resistance and a high relapse rate...
July 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28763557/c2orf71-mutations-as-a-frequent-cause-of-autosomal-recessive-retinitis-pigmentosa-clinical-analysis-and-presentation-of-8-novel-mutations
#16
MULTICENTER STUDY
Christina Gerth-Kahlert, Amit Tiwari, James V M Hanson, Vaishnavi Batmanabane, Elias Traboulsi, Mark E Pennesi, Abdullah A Al-Qahtani, Byron L Lam, John Heckenlively, Sandrine A Zweifel, Ajoy Vincent, Fabienne Fierz, Daniel Barthelmes, Kari Branham, Naheed Khan, Angela Bahr, Luzy Baehr, István Magyar, Samuel Koller, Silvia Azzarello-Burri, Dunja Niedrist, Elise Heon, Wolfgang Berger
Purpose: To define the phenotype of C2orf71 associated retinopathy and to present novel mutations in this gene. Methods: A retrospective multicenter study of patients with retinopathy and identified C2orf71 mutations was performed. Ocular function (visual acuity, visual fields, electroretinogram [ERG] responses); retinal morphology (fundus, optical coherence tomography); and underlying mutations were analyzed. Results: Thirteen patients from 11 families, who were aged 7 to 63 years (mean: 32...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28763556/modifications-in-retinal-mitochondrial-respiration-precede-type-2-diabetes-and-protracted-microvascular-retinopathy
#17
Woo Hyun Han, Jonathan Gotzmann, Sharee Kuny, Hui Huang, Catherine B Chan, Hélène Lemieux, Yves Sauvé
Purpose: To characterize retinal mitochondrial respiration associated with type 2 diabetes (T2D) progression in a cone-rich diurnal rodent, the Nile rat (genus Arvicanthis, species niloticus). Methods: Nile rats were fed a standard rodent diet that resulted in rising glucose levels from 6 months. Age-matched control animals were fed a high-fiber diet that prevented diabetes up to 18 months. The functional status of specific retinal mitochondrial components and mitochondrial outer membrane integrity were studied by using high-resolution respirometry...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28762374/molecular-alterations-in-prostate-cancer-and-association-with-mri-features
#18
D Lee, J Fontugne, N Gumpeni, K Park, T Y MacDonald, B D Robinson, A Sboner, M A Rubin, J M Mosquera, C E Barbieri
BACKGROUND: Multiparametric magnetic resonance imaging (mpMRI) has been increasingly used for prostate cancer (PCa). Recent studies identified distinct molecular subclasses of PCa with recurrent genomic alterations. However, the associations between molecular alterations in PCa and characteristics on mpMRI are unknown. Therefore, the objective of this study was to investigate recurrent molecular alterations in PCa and their associations with mpMRI features. METHODS: Sixty-two PCa nodules >0...
August 1, 2017: Prostate Cancer and Prostatic Diseases
https://www.readbyqxmd.com/read/28761685/two-year-clinical-outcomes-of-patients-treated-with-the-dual-therapy-stent-in-a-1000-patient-all-comers-registry
#19
Deborah N Kalkman, Pier Woudstra, Ian B A Menown, Peter den Heijer, Arnoud Wj Van't Hof, Andrejs Erglis, Harry Suryapranata, Karin E Arkenbout, Andrés Iñiguez, Philippe Muller, Jan G Tijssen, Marcel A M Beijk, Robbert J de Winter
OBJECTIVE: The dual-therapy stent combines an abluminal biodegradable drug-eluting coating, with a 'pro-healing' luminal layer. This bioengineered layer attracts circulating endothelial progenitor cells that can differentiate into normal endothelium. Rapid endothelialisation of the stent might allow safe short dual antiplatelet therapy. We aim to assess clinical outcomes in patients treated with this novel device at 2-year follow-up. METHODS: A total of 1000 patients were included in the REMEDEE Registry to evaluate clinical outcomes after treatment with the dual-therapy stent...
2017: Open Heart
https://www.readbyqxmd.com/read/28760679/amelioration-of-amyloid-%C3%AE-induced-retinal-inflammatory-responses-by-a-lxr-agonist-to901317-is-associated-with-inhibition-of-the-nf-%C3%AE%C2%BAb-signaling-and-nlrp3-inflammasome
#20
Chunyan Lei, Ru Lin, Jiaming Wang, Lifei Tao, Xinyu Fu, Yiguo Qiu, Bo Lei
Amyloid β (Aβ) is a pathogenic peptide associated with many neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease. The retinal inflammation in response to Aβ is implicated in the pathogenesis of several ocular diseases including age-related macular degeneration, Alzheimer's-related optic neuropathy and glaucoma. In the present study, we found that a single intravitreal injection of oligomeric Aβ1-40 in mouse activated the NLRP3 inflammasome and the NF-κB signaling, induced the production of inflammatory cytokines including TNF-α and IL-6...
July 29, 2017: Neuroscience
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