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https://www.readbyqxmd.com/read/28416603/high-throughput-immunogenetics-for-clinical-and-research-applications-in-immunohematology-potential-and-challenges
#1
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...
April 17, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28409551/musculoskeletal-tuberculosis
#2
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
#3
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
#4
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...
April 3, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28329590/concomitant-metastatic-cutaneous-tuberculous-abscesses-and-pott-disease-in-an-immunocompetent-patient
#5
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
#6
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
#7
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...
March 13, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28282560/genome-wide-meta-analysis-identifies-novel-loci-of-plaque-burden-in-carotid-artery
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28149501/is-fruit-and-vegetable-intake-associated-with-asthma-or-chronic-rhino-sinusitis-in-european-adults-results-from-the-global-allergy-and-asthma-network-of-excellence-ga-2-len-survey
#13
Vanessa Garcia-Larsen, Rhonda Arthur, James F Potts, Peter H Howarth, Matti Ahlström, Tari Haahtela, Carlos Loureiro, Ana Todo Bom, Grzegorz Brożek, Joanna Makowska, Marek L Kowalski, Trine Thilsing, Thomas Keil, Paolo M Matricardi, Kjell Torén, Thibaut van Zele, Claus Bachert, Barbara Rymarczyk, Christer Janson, Bertil Forsberg, Ewa Niżankowska-Mogilnicka, Peter G J Burney
BACKGROUND: Fruits and vegetables are rich in compounds with proposed antioxidant, anti-allergic and anti-inflammatory properties, which could contribute to reduce the prevalence of asthma and allergic diseases. OBJECTIVE: We investigated the association between asthma, and chronic rhino-sinusitis (CRS) with intake of fruits and vegetables in European adults. METHODS: A stratified random sample was drawn from the Global Allergy and Asthma Network of Excellence (GA(2)LEN) screening survey, in which 55,000 adults aged 15-75 answered a questionnaire on respiratory symptoms...
2017: Clinical and Translational Allergy
https://www.readbyqxmd.com/read/28034439/you-can-t-blame-the-wreck-on-the-train
#14
John R Potts
General surgical residency education is faced with a number of challenges today. Among those are resident duty hour limitations, the fact that residency is hospital-based despite the practice of general surgery being largely outpatient, changing diseases and conditions treated by the general surgeon and changing methods of treatment, development and maintenance of a user friendly curriculum and the support and provision for faculty development. The greatest single barrier, though, to education of the surgical resident is the lack of appropriate supervision...
December 21, 2016: American Journal of Surgery
https://www.readbyqxmd.com/read/28011759/-end-stage-heart-failure-therapy-potential-lessons-from-congenital-heart-disease-from-pulmonary-artery-banding-and-interatrial-communication-to-parallel-circulation
#15
REVIEW
Dietmar Schranz, Hakan Akintuerk, Norbert F Voelkel
The final therapy of 'end-stage heart failure' is orthotopic heart, lung or heart-lung transplantation. However, these options are not available for many patients worldwide. Therefore, novel therapeutical strategies are needed. Based on pathophysiological insights regarding (1) the long-term impact of an obstructive pulmonary outflow tract in neonates with congenitally corrected transposition of the great arteries, (2) the importance of a restrictive versus a non-restrictive atrial septum in neonates born with a borderline left ventricle and (3) the significance of both, a patent foramen ovale and/or open ductus arteriosus for survival of newborns with persistent pulmonary hypertension, the current review introduces some therapeutical strategies that may be applicable to selected patients with heart failure...
February 15, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/27995624/diagnosing-liver-fibrosis-a-narrative-review-of-current-literature-for-dermatologists
#16
REVIEW
J R Potts, C M Maybury, A Salam, J N Barker, K Agarwal, C H Smith
Chronic liver disease is a growing problem worldwide due to obesity, alcohol-related liver disease and viral hepatitis. Liver fibrosis is generally asymptomatic and patients may not present until they have advanced cirrhosis, when the scope for reversibility is limited. Identification of asymptomatic individuals at an early stage, is fundamental to reversing the rising toll of liver-related morbidity and mortality. Awareness of liver disease and the techniques for diagnosis is important for dermatologists, not only due to the burden of disease in the general population but also because some dermatology cohorts may have an elevated risk; for example the increased prevalence of metabolic syndrome and excess alcohol use in those with psoriasis and hidradenitis suppurativa, in addition to the use of potentially hepatotoxic drugs such as methotrexate...
December 20, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27994778/intrinsic-vertebral-markers-for-spinal-level-localization-in-anterior-cervical-spine-surgery-a-preliminary-report
#17
Deepak Kumar Jha, Anil Thakur, Mukul Jain, Arvind Arya, Chandrabhushan Tripathi, Rima Kumari, Suman Kushwaha
STUDY DESIGN: Prospective clinical study. PURPOSE: To observe the usefulness of anterior cervical osteophytes as intrinsic markers for spinal level localization (SLL) during sub-axial cervical spinal surgery via the anterior approach. OVERVIEW OF LITERATURE: Various landmarks, such as the mandibular angle, hyoid bone, thyroid cartilage, first cricoid ring, and C6 carotid tubercle, are used for gross cervical SLL; however, none are used during cervical spinal surgery via the anterior approach...
December 2016: Asian Spine Journal
https://www.readbyqxmd.com/read/27913513/minimal-residual-disease-in-mantle-cell-lymphoma-insights-into-biology-and-impact-on-treatment
#18
Eva Hoster, Christiane Pott
Despite the recent substantial improvement of clinical outcome in mantle cell lymphoma (MCL), resistance to immunochemotherapy and common relapses are challenges for long-term tumor control. The assessment of minimal residual disease (MRD) by real-time quantitative polymerase chain reaction has emerged as a widely feasible and standardized tool for direct assessment of therapy-induced reduction of tumor burden and regrowth after cytotoxic treatment in MCL, with much improved sensitivity compared with conventional staging procedures...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27892808/self-reported-impulsivity-in-huntington-s-disease-patients-and-relationship-to-executive-dysfunction-and-reward-responsiveness
#19
Patricia L Johnson, Geoffrey F Potts, Juan Sanchez-Ramos, Cynthia R Cimino
INTRODUCTION: Few studies have directly investigated impulsivity in Huntington's disease (HD) despite known changes in dopaminergic and frontal functioning, changes that have been associated with impulsivity in other disorders and in the normal population. This study sought to further categorize impulsivity in HD through examining differences in self-reported impulsivity between community controls and HD patients, the relationship between executive dysfunction and impulsivity, and the relationship of a reward/punishment behavioral inhibition task in relation to these self-report measures...
November 28, 2016: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/27872320/pott-s-disease-a-major-issue-for-an-unaccompanied-refugee-minor
#20
Cihan Papan, Ulrich von Both, Matthias Kappler, Birgit Kammer, Matthias Griese, Johannes Huebner
The incidence of TB in children in Germany has been on a rise since 2008, especially among foreign-born individuals. With rapidly increasing numbers of refugees from the numerous areas of conflict, this increase in incidence is not expected to halt, neither in Germany nor in Europe in general. We report a case of insufficient tracking in a 16-year-old unaccompanied refugee minor from Somalia who had a positive interferon γ release assay on arrival in Germany. No actions were undertaken, until 6 months later, an X-ray showed prominent hilar enlargement...
November 21, 2016: Thorax
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