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https://www.readbyqxmd.com/read/28626083/cellular-and-disease-functions-of-the-prader-willi-syndrome-gene-magel2
#1
REVIEW
Klementina Fon Tacer, Patrick Ryan Potts
Melanoma antigen L2 (MAGEL2 or MAGE-L2) is a member of the MAGE family of ubiquitin ligase regulators. It is maternally imprinted and often paternally deleted or mutated in the related neurodevelopmental syndromes, Prader-Willi Syndrome (PWS) and Schaaf-Yang Syndrome (SHFYNG). MAGEL2 is highly expressed in the hypothalamus and plays an important role in a fundamental cellular process that recycles membrane proteins from endosomes through the retromer sorting pathway. MAGEL2 is part of a multi-subunit protein complex consisting of MAGEL2, the TRIM27 E3 ubiquitin ligase, and the USP7 deubiquitinating enzyme...
June 16, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28586341/erratum-oncostatin-m-drives-intestinal-inflammation-and-predicts-response-to-tumor-necrosis-factor-neutralizing-therapy-in-patients-with-inflammatory-bowel-disease
#2
Nathaniel R West, Ahmed N Hegazy, Benjamin M J Owens, Samuel J Bullers, Bryan Linggi, Sofia Buonocore, Margherita Coccia, Dieter Görtz, Sébastien This, Krista Stockenhuber, Johanna Pott, Matthias Friedrich, Grigory Ryzhakov, Frédéric Baribaud, Carrie Brodmerkel, Constanze Cieluch, Nahid Rahman, Gerhard Müller-Newen, Raymond J Owens, Anja A Kühl, Kevin J Maloy, Scott E Plevy, Satish Keshav, Simon P L Travis, Fiona Powrie
No abstract text is available yet for this article.
June 6, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28562520/langerhans-cell-histiocytosis-mimicking-a-pott-puffy-tumor
#3
Luca Pasquini, Maria Camilla Rossi Espagnet, Giacomo Esposito, Rita De Vito, Raffaella Messina, Stefania Gaspari, Daniela Longo
Langherans' cell histiocytosis (LCH) is a rare disease mostly affecting children in the first decade of life. As clinical presentation is extremely heterogenous, a prompt diagnosis may be challenging, sometimes leading to a diagnostic delay, especially when the disease involves a single site. Herein, we report a case of a child with an unusual presentation of (LCH) mimicking a Pott puffy tumor with extracranial and epidural abscesses, surgically treated. Through this unique case we summarize possible manifestations of LCH with bone involvement and we underline the importance of considering possible complications due to bone erosions such as infection, to avoid a misdiagnosis...
May 29, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28561806/genetic-based-interactions-among-tree-neighbors-identification-of-the-most-influential-neighbors-and-estimation-of-correlations-among-direct-and-indirect-genetic-effects-for-leaf-disease-and-growth-in-eucalyptus-globulus
#4
J Costa E Silva, B M Potts, A R Gilmour, R J Kerr
An individual's genes may influence the phenotype of neighboring conspecifics. Such indirect genetic effects (IGEs) are important as they can affect the apparent total heritable variance in a population, and thus the response to selection. We studied these effects in a large, pedigreed population of Eucalyptus globulus using variance component analyses of Mycosphearella leaf disease, diameter growth at age 2 years, and post-infection diameter growth at ages 4 and 8 years. In a novel approach, we initially modeled IGEs using a factor analytic (FA) structure to identify the most influential neighbor positions, with the FA loadings being position-specific regressions on the IGEs...
May 31, 2017: Heredity
https://www.readbyqxmd.com/read/28536306/chronic-lymphocytic-leukemia-with-mutated-ighv4-34-receptors-shared-and-distinct-immunogenetic-features-and-clinical-outcomes
#5
Aliki Xochelli, Panagiotis Baliakas, Ioannis Kavakiotis, Andreas Agathangelidis, Lesley-Ann Sutton, Eva Minga, Stavroula Ntoufa, Eugen Tausch, Xiao-Jie Yan, Tait D Shanafelt, Karla Plevova, Myriam Boudjogra, Davide Rossi, Zadie Davis, Alba Navarro, Yorick Sandberg, Fie Juhl Vojdeman, Lydia Scarfò, Niki Stavroyianni, Andrey Sudarikov, Silvio Veronese, Tatiana Tzenou, Teodora Karan Djurasevic, Mark A Catherwood, Dirk Kienle, Maria Chatzouli, Monica Facco, Jasmin Bahlo, Christiane Pott, Lone Bredo Pedersen, Larry Mansouri, Karin E Smedby, Charles C Chu, Véronique Giudicelli, Marie-Paule Lefranc, Panagiotis Panagiotidis, Gunnar Juliusson, Achilles Anagnostopoulos, Ioannis Vlahavas, Darko Antic, Livio Trentin, Marco Montillo, Carsten U Niemann, Hartmut Dohner, Anton W Langerak, Sarka Pospisilova, Michael Hallek, Elias Campo, Nicholas- Chiorazzi, Nikos Maglaveras, David Oscier, Gianluca Gaidano, Diane F Jelinek, Stephan Stilgenbauer, Ioanna Chouvarda, Nikos Darzentas, Chrysoula Belessi, Frédéric Davi, Anastasia Hadzidimitriou, Richard Rosenquist, Paolo Ghia, Kostas Stamatopoulos
We sought to investigate if B cell receptor immunoglobulin (BcR IG) stereotypy is associated with particular clinicobiological features amongst chronic lymphocytic leukemia (CLL) patients expressing mutated BcR IG (M-CLL) encoded by the IGHV4-34 gene, and also ascertain whether these associations could refine prognostication.<br /> <p>Experimental Design: In a series of 19,907 CLL cases with available immunogenetic information, we identified 339 IGHV4-34 expressing cases assigned to one of the four largest stereotyped M-CLL subsets, namely subsets #4, #16, #29 and #201, and investigated in detail their clinicobiological characteristics and disease outcomes...
May 23, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28527260/-ancient-disease-but-not-a-thing-of-the-past-pott-s-paraplegia-in-an-hiv-positive-health-care-worker
#6
Leonardo F Jurado
Centro de Investigación UNINAVARRA-CINA, Fundación Universitaria Navarra, Neiva, ColombiaGrupo de Investigación MICOBAC-UN, Departamento de Microbiología, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.C., Colombia.
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28525445/priorities-and-preferences-for-weight-management-and-cardiovascular-risk-reduction-in-primary-care
#7
Lynne S Nemeth, LaShanta J Rice, Maryellen Potts, Cathy Melvin, Melanie Jefferson, Chanita Hughes-Halbert
Implementing behavioral interventions for cardiovascular risk reduction and weight management is challenging in primary care. Primary care patients and providers were recruited for qualitative interviews to identify priorities and preferences for addressing weight management. Thematic analysis was used to identify relevant resources, barriers to lifestyle modification, health behavior change, and implementation of weight management strategies into care. Patients and providers prioritized increasing physical activity and healthy diets when managing chronic disease; and reported decreased patient motivation, knowledge, and limited organizational capacity and time among providers to deliver intensive interventions...
July 2017: Family & Community Health
https://www.readbyqxmd.com/read/28459623/chronic-obstructive-pulmonary-disease-and-the-risk-of-stroke
#8
Ann D Morgan, Chetna Sharma, Kieran J Rothnie, James Potts, Liam Smeeth, Jennifer K Quint
RATIONALE: Chronic obstructive pulmonary disease (COPD) has been identified as a risk factor for cardiovascular diseases such as myocardial infarction. The role of COPD in cerebrovascular disease is, however, less certain. Although earlier studies have suggested that the risk for stroke is also increased in COPD, more recent investigations have generated mixed results. OBJECTIVES: The primary objective of our review was to quantify the magnitude of the association between COPD and stroke...
May 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28416603/high-throughput-immunogenetics-for-clinical-and-research-applications-in-immunohematology-potential-and-challenges
#9
Anton W Langerak, Monika Brüggemann, Frédéric Davi, Nikos Darzentas, Jacques J M van Dongen, David Gonzalez, Gianni Cazzaniga, Véronique Giudicelli, Marie-Paule Lefranc, Mathieu Giraud, Elizabeth A Macintyre, Michael Hummel, Christiane Pott, Patricia J T A Groenen, Kostas Stamatopoulos
Analysis and interpretation of Ig and TCR gene rearrangements in the conventional, low-throughput way have their limitations in terms of resolution, coverage, and biases. With the advent of high-throughput, next-generation sequencing (NGS) technologies, a deeper analysis of Ig and/or TCR (IG/TR) gene rearrangements is now within reach, which impacts on all main applications of IG/TR immunogenetic analysis. To bridge the generation gap from low- to high-throughput analysis, the EuroClonality-NGS Consortium has been formed, with the main objectives to develop, standardize, and validate the entire workflow of IG/TR NGS assays for 1) clonality assessment, 2) minimal residual disease detection, and 3) repertoire analysis...
May 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28409551/musculoskeletal-tuberculosis
#10
REVIEW
Michael K Leonard, Henry M Blumberg
Musculoskeletal tuberculosis (TB) accounts for approximately 10% of all extrapulmonary TB cases in the United States and is the third most common site of extrapulmonary TB after pleural and lymphatic disease. Vertebral involvement (tuberculous spondylitis, or Pott's disease) is the most common type of skeletal TB, accounting for about half of all cases of musculoskeletal TB. The presentation of musculoskeletal TB may be insidious over a long period and the diagnosis may be elusive and delayed, as TB may not be the initial consideration in the differential diagnosis...
April 2017: Microbiology Spectrum
https://www.readbyqxmd.com/read/28404197/mercaptopurine-versus-placebo-to-prevent-recurrence-of-crohn-s-disease-after-surgical-resection-toppic-a-multicentre-double-blind-randomised-controlled-trial
#11
Craig Mowat, Ian Arnott, Aiden Cahill, Malcolm Smith, Tariq Ahmad, Sreedhar Subramanian, Simon Travis, John Morris, John Hamlin, Anjan Dhar, Chuka Nwokolo, Cathryn Edwards, Tom Creed, Stuart Bloom, Mohamed Yousif, Linzi Thomas, Simon Campbell, Stephen J Lewis, Shaji Sebastian, Sandip Sen, Simon Lal, Chris Hawkey, Charles Murray, Fraser Cummings, Jason Goh, James O Lindsay, Naila Arebi, Lindsay Potts, Aileen J McKinley, John M Thomson, John A Todd, Mhairi Collie, Malcolm G Dunlop, Ashley Mowat, Daniel R Gaya, Jack Winter, Graham D Naismith, Holly Ennis, Catriona Keerie, Steff Lewis, Robin J Prescott, Nicholas A Kennedy, Jack Satsangi
BACKGROUND: Up to 60% of patients with Crohn's disease need intestinal resection within the first 10 years of diagnosis, and postoperative recurrence is common. We investigated whether mercaptopurine can prevent or delay postoperative clinical recurrence of Crohn's disease. METHODS: We did a randomised, placebo-controlled, double-blind trial at 29 UK secondary and tertiary hospitals of patients (aged >16 years in Scotland or >18 years in England and Wales) who had a confirmed diagnosis of Crohn's disease and had undergone intestinal resection...
December 2016: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28368383/oncostatin-m-drives-intestinal-inflammation-and-predicts-response-to-tumor-necrosis-factor-neutralizing-therapy-in-patients-with-inflammatory-bowel-disease
#12
Nathaniel R West, Ahmed N Hegazy, Benjamin M J Owens, Samuel J Bullers, Bryan Linggi, Sofia Buonocore, Margherita Coccia, Dieter Görtz, Sébastien This, Krista Stockenhuber, Johanna Pott, Matthias Friedrich, Grigory Ryzhakov, Frédéric Baribaud, Carrie Brodmerkel, Constanze Cieluch, Nahid Rahman, Gerhard Müller-Newen, Raymond J Owens, Anja A Kühl, Kevin J Maloy, Scott E Plevy, Satish Keshav, Simon P L Travis, Fiona Powrie
Inflammatory bowel diseases (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), are complex chronic inflammatory conditions of the gastrointestinal tract that are driven by perturbed cytokine pathways. Anti-tumor necrosis factor-α (TNF) antibodies are mainstay therapies for IBD. However, up to 40% of patients are nonresponsive to anti-TNF agents, which makes the identification of alternative therapeutic targets a priority. Here we show that, relative to healthy controls, inflamed intestinal tissues from patients with IBD express high amounts of the cytokine oncostatin M (OSM) and its receptor (OSMR), which correlate closely with histopathological disease severity...
May 2017: Nature Medicine
https://www.readbyqxmd.com/read/28329590/concomitant-metastatic-cutaneous-tuberculous-abscesses-and-pott-disease-in-an-immunocompetent-patient
#13
Ana Marcos-Pinto, Tiago Marques, António Pedro Machado, Luís Soares-de-Almeida, Paulo Filipe
Tuberculosis affects one-third of the world's population. The incidence of extrapulmonary tuberculosis including cutaneous and skeletal manifestations has increased in the last decades. The authors report a clinical case of concomitant metastatic cutaneous abscesses and Pott disease in an immunocompetent patient, a rare presentation of tuberculosis.
October 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28300603/a-comprehensive-guide-to-the-mage-family-of-ubiquitin-ligases
#14
REVIEW
Anna K Lee, Patrick Ryan Potts
Melanoma antigen (MAGE) genes are conserved in all eukaryotes and encode for proteins sharing a common MAGE homology domain. Although only a single MAGE gene exists in lower eukaryotes, the MAGE family rapidly expanded in eutherians and consists of more than 50 highly conserved genes in humans. A subset of MAGEs initially garnered interest as cancer biomarkers and immunotherapeutic targets due to their antigenic properties and unique expression pattern that is primary restricted to germ cells and aberrantly reactivated in various cancers...
April 21, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28289079/deletion-of-f4l-ribonucleotide-reductase-in-vaccinia-virus-produces-a-selective-oncolytic-virus-and-promotes-anti-tumor-immunity-with-superior-safety-in-bladder-cancer-models
#15
Kyle G Potts, Chad R Irwin, Nicole A Favis, Desmond B Pink, Krista M Vincent, John D Lewis, Ronald B Moore, Mary M Hitt, David H Evans
Bladder cancer has a recurrence rate of up to 80% and many patients require multiple treatments that often fail, eventually leading to disease progression. In particular, standard of care for high-grade disease, Bacillus Calmette-Guérin (BCG), fails in 30% of patients. We have generated a novel oncolytic vaccinia virus (VACV) by mutating the F4L gene that encodes the virus homolog of the cell-cycle-regulated small subunit of ribonucleotide reductase (RRM2). The F4L-deleted VACVs are highly attenuated in normal tissues, and since cancer cells commonly express elevated RRM2 levels, have tumor-selective replication and cell killing...
May 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28282560/genome-wide-meta-analysis-identifies-novel-loci-of-plaque-burden-in-carotid-artery
#16
Janne Pott, Ralph Burkhardt, Frank Beutner, Katrin Horn, Andrej Teren, Holger Kirsten, Lesca M Holdt, Gerhard Schuler, Daniel Teupser, Markus Loeffler, Joachim Thiery, Markus Scholz
BACKGROUND AND AIMS: Carotid artery plaque is an established marker of subclinical atherosclerosis and common patho-mechanisms with coronary artery disease (CAD) are hypothesized. We aimed to identify genetic variants associated with carotid plaque and to examine the potential shared genetic basis with CAD. METHODS: After investigating the reliability of plaque detection, we performed a genome-wide meta-association study in two independent cohorts (LIFE-Adult, n = 4037 and LIFE-Heart, n = 3152) for carotid plaque score (PS), defined as the sum of the plaque load of common carotid artery and carotid bulb...
April 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28228437/vertebral-b-cell-lymphoma-mimicking-a-pott-s-disease-in-a-man-aged-63-years-coming-back-from-tunisia
#17
C Pouderoux, C Peyron, C Chidiac, T Ferry
No abstract text is available yet for this article.
February 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28224992/diagnostic-exome-sequencing-in-266-dutch-patients-with-visual-impairment
#18
Lonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, L Ingeborgh van den Born, Caroline Cw Klaver, Joke Bgm Verheij, Carel B Hoyng, Martijn H Breuning, Camiel Jf Boon, Anneke J Kievit, Virginie Jm Verhoeven, Jan Wr Pott, Suzanne Ceh Sallevelt, Johanna M van Hagen, Astrid S Plomp, Hester Y Kroes, Stefan H Lelieveld, Jayne Y Hehir-Kwa, Steven Castelein, Marcel Nelen, Hans Scheffer, Dorien Lugtenberg, Frans Pm Cremers, Lies Hoefsloot, Helger G Yntema
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis. In the vision gene panel analysis, variants in genes known to cause inherited eye disorders were assessed for pathogenicity. If no causative variants were detected and when the patient consented, the entire exome data was analyzed. A total of 266 Dutch patients with different types of inherited eye disorders, including inherited retinal dystrophies, cataract, developmental eye disorders and optic atrophy, were investigated...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28212479/-spinal-tuberculosis-experience-in-a-third-level-medical-facility-in-puebla-mexico
#19
Rolando Joshua Medina-Peñasco, Martha Imelda Rosas-Ramírez, Rodolfo Gregorio Barragán-Hervella, Ivan Alvarado-Ortega, Gerardo López-Cázares, Álvaro José Montiel-Jarquín, María Socorro Romero-Figueroa
BACKGROUND: Pott's disease or spinal tuberculosis (STB) is a serious infectious disease, caused by the migration of the bacterium Mycobacterium tuberculosis to the spine. Knowing this disease is a priority for all the physicians. The objective was to show the experience in patients with STB treated in a third level hospital in Puebla, Mexico. METHODS: Descriptive study. From January to December, 2014, we collected information of patients with STB. The variables were age, gender, length of hospital stay, affected segment of the spine, associated diseases, symptoms, diagnostic methods, type of treatment and complication...
2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28178187/may-i-cut-in-gene-editing-approaches-in-human-induced-pluripotent-stem-cells
#20
REVIEW
Nicholas Brookhouser, Sreedevi Raman, Christopher Potts, David A Brafman
In the decade since Yamanaka and colleagues described methods to reprogram somatic cells into a pluripotent state, human induced pluripotent stem cells (hiPSCs) have demonstrated tremendous promise in numerous disease modeling, drug discovery, and regenerative medicine applications. More recently, the development and refinement of advanced gene transduction and editing technologies have further accelerated the potential of hiPSCs. In this review, we discuss the various gene editing technologies that are being implemented with hiPSCs...
February 6, 2017: Cells
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