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https://www.readbyqxmd.com/read/28213892/opportunities-for-repurposing-of-poly-adp-ribose-polymerase-parp-inhibitors-for-the-therapy-of-non-oncological-diseases
#1
REVIEW
Nathan A Berger, Valerie C Besson, A Hamid Boulares, Alexander Bürkle, Alberto Chiarugi, Robert S Clark, Nicola J Curtin, Salvatore Cuzzocrea, Ted M Dawson, Valina L Dawson, György Haskó, Lucas Liaudet, Flavio Moroni, Pál Pacher, Peter Radermacher, Andrew L Salzman, Solomon H Snyder, Francisco Garcia Soriano, Robert P Strosznajder, Balázs Sümegi, Raymond A Swanson, Csaba Szabo
The recent clinical availability of the PARP inhibitor Lynparza (olaparib) opens the door for potential therapeutic repurposing for non-oncological indications. Considering (a) the preclinical efficacy data with PARP inhibitors in non-oncological diseases and (b) the risk-benefit ratio of treating patients with a compound that inhibits an enzyme that has physiological roles in the regulation of DNA repair, indications where (a) the severity of the disease is high, (b) the available therapeutic options are limited, and (c) the duration of PARP inhibitor administration could be short, provide first-line options for therapeutic repurposing...
February 18, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28213671/exome-analysis-of-smith-magenis-like-syndrome-cohort-identifies-de-novo-likely-pathogenic-variants
#2
Seth I Berger, Carla Ciccone, Karen L Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J Introne, Andrea Gropman, Jan K Blancato, James C Mullikin, William A Gahl, Marjan Huizing, Ann C M Smith
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28193624/transcriptional-mechanisms-of-resistance-to-anti-pd-1-therapy
#3
Maria Libera Ascierto, Alvin Makohon-Moore, Evan J Lipson, Janis M Taube, Tracee L McMiller, Alan E Berger, Jinshui Fan, Genevieve Kaunitz, Tricia Cottrell, Zachary Kohutek, Alexander Favorov, Vladimir Makarov, Nadeem Riaz, Timothy A Chan, Leslie Cope, Ralph H Hruban, Drew M Pardoll, Barry S Taylor, David B Solit, Christine A Iacobuzio-Donahue, Suzanne L Topalian
PURPOSE: To explore factors associated with response and resistance to anti-PD-1 therapy, we analyzed multiple disease sites at autopsy in a patient with widely metastatic melanoma who had a heterogeneous response. MATERIALS AND METHODS: Twenty-six melanoma specimens (four pre-mortem, 22 post-mortem) were subjected to whole-exome sequencing. Candidate immunologic markers and gene expression were assessed in ten cutaneous metastases showing response or progression during therapy...
February 13, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28178426/physical-activity-in-pediatric-pulmonary-arterial-hypertension-measured-by-accelerometry-a-candidate-clinical-endpoint
#4
Willemijn M H Zijlstra, Mark-Jan Ploegstra, Theresia Vissia-Kazemier, Marcus T R Roofthooft, Gideon du Marchie Sarvaas, Beatrijs Bartelds, Annette Rackowitz, Freek van den Heuvel, Hans L Hillege, Guy Plasqui, Rolf M F Berger
Rationale- The development of evidence-based treatment guidelines for pediatric pulmonary arterial hypertension (PAH) is hampered by lack of pediatric clinical trials. Trial-design is hampered by lack of a feasible clinical endpoint in this population. Objectives- To evaluate the use of accelerometry for measuring physical activity (PA) in pediatric PAH and to investigate its correlation with clinical disease severity markers. Methods- We included children from the Dutch National Network for Pediatric Pulmonary Hypertension...
February 8, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28168107/epidermal-cell-death-in-frogs-with-chytridiomycosis
#5
Laura A Brannelly, Alexandra A Roberts, Lee F Skerratt, Lee Berger
BACKGROUND: Amphibians are declining at an alarming rate, and one of the major causes of decline is the infectious disease chytridiomycosis. Parasitic fungal sporangia occur within epidermal cells causing epidermal disruption, but these changes have not been well characterised. Apoptosis (planned cell death) can be a damaging response to the host but may alternatively be a mechanism of pathogen removal for some intracellular infections. METHODS: In this study we experimentally infected two endangered amphibian species Pseudophryne corroboree and Litoria verreauxii alpina with the causal agent of chytridiomycosis...
2017: PeerJ
https://www.readbyqxmd.com/read/28166789/the-mrz-reaction-in-primary-progressive-multiple-sclerosis
#6
Tilman Hottenrott, Rick Dersch, Benjamin Berger, Sebastian Rauer, Daniela Huzly, Oliver Stich
BACKGROUND: The MRZ reaction (MRZR), composed of the three antibody indices (AI) against measles, rubella and varicella zoster virus and found positive in the majority of relapsing-remitting multiple sclerosis (RRMS) patients, is absent in other inflammatory neurological diseases (OIND). So far, it has been uncertain whether its differential diagnostic promise extends to patients with primary-progressive multiple sclerosis (PPMS). OBJECTIVE: To investigate the prevalence of MRZR in PPMS compared to RRMS and OIND patients...
February 7, 2017: Fluids and Barriers of the CNS
https://www.readbyqxmd.com/read/28161072/-brain-metastases-focal-treatment-surgery-and-radiation-therapy-and-cognitive-consequences
#7
REVIEW
Emmanuelle Reygagne, Foucaud Du Boisgueheneuc, Antoine Berger
Brain metastases represent the first cause of malignant brain tumor. Without radiation therapy, prognosis was poor with fast neurological deterioration, and a median overall survival of one month. Nowadays, therapeutic options depend on brain metastases presentation, extra brain disease, performance status and estimated prognostic (DS GPA). Therefore, for oligometastatic brain patients with a better prognosis, this therapeutic modality is controversial. In fact, whole-brain radiation therapy improves neurological outcomes, but it can also induce late neuro-cognitive sequelae for long-term survivors of brain metastases...
February 1, 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28159433/-mri-of-the-pulmonary-parenchyma-towards-clinical-applicability
#8
REVIEW
G Dournes, J Macey, E Blanchard, P Berger, F Laurent
Lung parenchyma has long been considered out of the scope of magnetic resonance imaging (MRI) clinical applicability. However, technological advances have emerged to soluce the technical difficulties and thus, applications in clinical practice have become realistic. Nevertheless, various approaches have been proposed and there is a need to synthetize the most recent literature data in order to envision a rationale to build lung MR protocols for clinical use. In addition, these technological innovations may modify the usual paradigms of lung MRI, which are still not consensual...
January 31, 2017: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/28157425/clinical-features-and-prognostic-factors-in-presumed-ocular-tuberculosis
#9
Cristhian A Urzua, Yrbani Lantigua, Sergio Abuauad, Paulina Liberman, Osvaldo Berger, Pablo Sabat, Victor Velasquez, Enzo Castiglione, Margarita Calonge
PURPOSE: To characterize the clinical features in patients with presumed ocular tuberculosis (TB) and determine prognostic factors of visual outcomes and complications in this disease. MATERIAL AND METHODS: Retrospective case series of 35 patients (29 females, 6 males) with presumed ocular TB from referral centers in Chile and Spain between 2002 and 2012. Medical records were reviewed, and data regarding clinical features, complications, best-corrected visual acuity (BCVA), duration of disease, extraocular manifestations, and therapy were retrieved...
February 3, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28153882/activated-platelets-induce-endothelial-cell-activation-via-an-interleukin-1%C3%AE-pathway-in-systemic-lupus-erythematosus
#10
Sokha Nhek, Robert Clancy, Kristen A Lee, Nicole M Allen, Tessa J Barrett, Emanuela Marcantoni, Janet Nwaukoni, Sara Rasmussen, Maya Rubin, Jonathan D Newman, Jill P Buyon, Jeffrey S Berger
OBJECTIVE: Systemic lupus erythematosus (SLE) is associated with the premature development of cardiovascular disease. The platelet-endothelium interaction is important in the pathogenesis of cardiovascular disease. In this study, we investigated the platelet phenotype from patients with SLE and matched controls, and their effect on endothelial cells. APPROACH AND RESULTS: Platelet aggregability was measured in 54 SLE subjects off antiplatelet therapy (mean age 40...
February 2, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28151659/discovery-of-a-first-in-class-receptor-interacting-protein-1-rip1-kinase-specific-clinical-candidate-gsk2982772-for-the-treatment-of-inflammatory-diseases
#11
Philip A Harris, Scott B Berger, Jae U Jeong, Rakesh Nagilla, Deepak Bandyopadhyay, Nino Campobasso, Carol A Capriotti, Julie A Cox, Lauren Dare, Xiaoyang Dong, Patrick M Eidam, Joshua N Finger, Sandra J Hoffman, James Kang, Viera Kasparcova, Bryan W King, Ruth Lehr, Yunfeng Lan, Lara K Leister, John D Lich, Thomas T MacDonald, Nathan A Miller, Michael T Ouellette, Christina S Pao, Attiq Rahman, Michael A Reilly, Alan R Rendina, Elizabeth J Rivera, Michelle C Schaeffer, Clark A Sehon, Robert R Singhaus, Helen H Sun, Barbara A Swift, Rachel D Totoritis, Anna Vossenkamper, Paris Ward, David D Wisnoski, Daohua Zhang, Robert W Marquis, Peter J Gough, John J Bertin
RIP1 regulates necroptosis and inflammation and may play an important role in contributing to a variety of human pathologies, including immune-mediated inflammatory diseases. Small-molecule inhibitors of RIP1 kinase that are suitable for advancement into the clinic have yet to be described. Herein we report our lead-optimization of a benzoxazepinone hit from a DNA-encoded library and the discovery and profile of clinical candidate GSK2982772 (compound 5), currently in phase 2a clinical studies for psoriasis, rheumatoid arthritis and ulcerative colitis...
February 2, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28145758/serially-measured-uric-acid-levels-predict-disease-severity-and-outcome-in-pediatric-pulmonary-arterial-hypertension
#12
Lynn J Leberkühne, Mark-Jan Ploegstra, Johannes M Douwes, Beatrijs Bartelds, Marcus T R Roofthooft, Hans L Hillege, Rolf M F Berger
No abstract text is available yet for this article.
February 1, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28140310/-post-transplant-distal-limb-syndrome
#13
María Florencia Borghi Torzillo, Paula Bavcar, Rubén Lutfi, Alberto C Díaz
The post-transplant distal limb syndrome is a not well known entity, with a prevalence of 5% in patients with renal transplant. Its diagnosis is based on clinical symptoms, bone scintigraphy and MRI, it has a benign course and the patient recovers without sequel. We present the case of a 37-year-old male, with medical history of hypertension, Berger's disease in 1999 that required dialysis three times a week for four years (2009-2013) and renal transplant in 2013. The patient consults on January 2014 referring severe pain in both feet, with sudden onset; he remembers the exact date of the beginning of the pain and denies trauma, pain prevents ambulation...
2017: Medicina
https://www.readbyqxmd.com/read/28139727/cortisol-awakening-response-and-acute-stress-reactivity-in-first-nations-people
#14
Maximus Berger, Anthony Leicht, Angela Slatcher, Ann Katrin Kraeuter, Sarangan Ketheesan, Sarah Larkins, Zoltán Sarnyai
First Nations people globally have a higher incidence of mental disorders and non-communicable diseases. These health inequalities are partially attributed to a complex network of social and environmental factors which likely converge on chronic psychosocial stress. We hypothesized that alterations in stress processing and the regulation of the hypothalamic-pituitary-adrenal axis might underlie health disparities in First Nations people. We assessed the cortisol awakening response and the dynamic response to a laboratory induced psychosocial stress of young Indigenous tertiary students (n = 11, mean age 23...
January 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28137924/dna-damage-response-and-repair-gene-alterations-are-associated-with-improved-survival-in-patients-with-platinum-treated-advanced-urothelial-carcinoma
#15
Min Yuen Teo, Richard Bambury, Emily C Zabor, Emmet J Jordan, Hikmat A Al-Ahmadie, Mariel Boyd, Nancy Bouvier, Stephanie Mullane, Eugene K Cha, Nitin Roper, Irina Ostrovnaya, David M Hyman, Bernard H Bochner, Maria E Arcila, David B Solit, Michael F Berger, Dean F Bajorin, Joaquim Bellmunt, Gopa Iyer, Jonathan E Rosenberg
PURPOSE: Platinum-based chemotherapy remains the standard treatment for advanced urothelial carcinoma by inducing DNA damage. We hypothesize that somatic alterations in DNA damage response and repair (DDR) genes are associated with improved sensitivity to platinum-based chemotherapy. EXPERIMENTAL DESIGN: Patients with diagnosis of locally advanced and metastatic urothelial carcinoma treated with platinum-based chemotherapy who had exon sequencing with MSK-IMPACT assay were identified...
January 30, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28131822/genome-scale-networks-link-neurodegenerative-disease-genes-to-%C3%AE-synuclein-through-specific-molecular-pathways
#16
Vikram Khurana, Jian Peng, Chee Yeun Chung, Pavan K Auluck, Saranna Fanning, Daniel F Tardiff, Theresa Bartels, Martina Koeva, Stephen W Eichhorn, Hadar Benyamini, Yali Lou, Andy Nutter-Upham, Valeriya Baru, Yelena Freyzon, Nurcan Tuncbag, Michael Costanzo, Bryan-Joseph San Luis, David C Schöndorf, M Inmaculada Barrasa, Sepehr Ehsani, Neville Sanjana, Quan Zhong, Thomas Gasser, David P Bartel, Marc Vidal, Michela Deleidi, Charles Boone, Ernest Fraenkel, Bonnie Berger, Susan Lindquist
Numerous genes and molecular pathways are implicated in neurodegenerative proteinopathies, but their inter-relationships are poorly understood. We systematically mapped molecular pathways underlying the toxicity of alpha-synuclein (α-syn), a protein central to Parkinson's disease. Genome-wide screens in yeast identified 332 genes that impact α-syn toxicity. To "humanize" this molecular network, we developed a computational method, TransposeNet. This integrates a Steiner prize-collecting approach with homology assignment through sequence, structure, and interaction topology...
January 25, 2017: Cell Systems
https://www.readbyqxmd.com/read/28119347/advancing-symptom-science-through-symptom-cluster-research-expert-panel-proceedings-and-recommendations
#17
REVIEW
Christine Miaskowski, Andrea Barsevick, Ann Berger, Rocco Casagrande, Patricia A Grady, Paul Jacobsen, Jean Kutner, Donald Patrick, Lani Zimmerman, Canhua Xiao, Martha Matocha, Sue Marden
An overview of proceedings, findings, and recommendations from the workshop on "Advancing Symptom Science Through Symptom Cluster Research" sponsored by the National Institute of Nursing Research (NINR) and the Office of Rare Diseases Research, National Center for Advancing Translational Sciences, is presented. This workshop engaged an expert panel in an evidenced-based discussion regarding the state of the science of symptom clusters in chronic conditions including cancer and other rare diseases. An interdisciplinary working group from the extramural research community representing nursing, medicine, oncology, psychology, and bioinformatics was convened at the National Institutes of Health...
April 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/28104788/myo18b-is-essential-for-sarcomere-assembly-in-fast-skeletal-muscle
#18
Joachim Berger, Silke Berger, Mei Li, Peter D Currie
Congenital myopathies are muscle degenerative disorders with a broad clinical spectrum. A number of myopathies have been associated with molecular defects within sarcomeres, the force-generating component of the muscle cell. Whereas the highly regular organization of the myofibril has been studied in detail, in vivo assembly of sarcomeres remains a poorly understood process. Therefore, a more detailed knowledge of sarcomere assembly is crucial to better understand the pathogenic mechanisms within myopathies...
January 18, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28103300/expression-profiling-of-ribosome-biogenesis-factors-reveals-nucleolin-as-a-novel-potential-marker-to-predict-outcome-in-aml-patients
#19
Virginie Marcel, Frédéric Catez, Caroline M Berger, Emeline Perrial, Adriana Plesa, Xavier Thomas, Eve Mattei, Sandrine Hayette, Pierre Saintigny, Philippe Bouvet, Jean-Jacques Diaz, Charles Dumontet
Acute myeloid leukemia (AML) is a heterogeneous disease. Prognosis is mainly influenced by patient age at diagnosis and cytogenetic alterations, two of the main factors currently used in AML patient risk stratification. However, additional criteria are required to improve the current risk classification and better adapt patient care. In neoplastic cells, ribosome biogenesis is increased to sustain the high proliferation rate and ribosome composition is altered to modulate specific gene expression driving tumorigenesis...
2017: PloS One
https://www.readbyqxmd.com/read/28099314/fundus-autofluorescence-lifetimes-and-central-serous-chorioretinopathy
#20
Chantal Dysli, Lieselotte Berger, Sebastian Wolf, Martin S Zinkernagel
PURPOSE: To quantify retinal fluorescence lifetimes in patients with central serous chorioretinopathy (CSC) and to identify disease specific lifetime characteristics over the course of disease. METHODS: Forty-seven participants were included in this study. Patients with central serous chorioretinopathy were imaged with fundus photography, fundus autofluorescence, optical coherence tomography, and fluorescence lifetime imaging ophthalmoscopy (FLIO) and compared with age-matched controls...
January 17, 2017: Retina
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