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https://www.readbyqxmd.com/read/28095350/progressive-multifocal-leukoencephalopathy-in-a-patient-with-systemic-mastocytosis-treated-with-cladribine
#1
Karl B Alstadhaug, Randi Fykse Halstensen, Francis Odeh
BACKGROUND: Progressive multifocal leukoencephalopathy (PML) is a rare opportunistic brain infection caused by the human polyomavirus JC (JCPyV). A particular problem with the drug cladribine seems to be prolonged suppression of the CD4+ T-cells, a well-known risk factor for PML. CASE DESCRIPTION: A 67-year-old male presented with a 3-weeks history of unsteady gait, dysarthria and a dysfunctional right arm. Seven years earlier, he had been diagnosed with urticaria pigmentosa, and 2 years later aggressive systemic mastocytosis...
December 14, 2016: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28074523/familial-gastrointestinal-stromal-tumors-lentigines-and-caf%C3%A3-au-lait-macules-associated-with-germline-c-kit-mutation-treated-with-imatinib
#2
Divya Gupta, Laxmisha Chandrashekar, Lidia Larizza, Elisa A Colombo, Laura Fontana, Cristina Gervasini, Devinder M Thappa, Medha Rajappa, Kalai Selvi Rajendiran, Gubbi Shamanna Sreenath, Vikram Kate
BACKGROUND: Familial lentiginosis syndromes are characterized by a wide array of manifestations resulting from activation of molecular pathways which control growth, proliferation, and differentiation of a broad range of tissues. Familial gastrointestinal stromal tumors (GISTs) are often accompanied by additional features like hyperpigmentation, mastocytosis, and dysphagia. They have been described with mutations in c-kit (most commonly), platelet-derived growth factor receptor A, neurofibromatosis-1, and succinate dehydrogenase genes...
February 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28074480/clonal-reticulohistiocytosis-of-the-skin-and-bone-marrow-associated-with-systemic-mastocytosis-and-acute-myeloid-leukaemia
#3
Nicola Fusco, Arturo Bonometti, Claudia Augello, Sonia Fabris, Leonardo Boiocchi, Stefano Fiori, Denise Morotti, Nicola Fracchiolla, Emilio Berti, Umberto Gianelli
AIMS: The aims of this study were to define whether diffuse cutaneous reticulohistiocytosis could be underpinned by somatic genetic alterations and represent precursor to more aggressive forms of disease. METHODS AND RESULTS: A 59-year-old man with diffuse cutaneous reticulohistiocytosis, experienced bone marrow localisation of the disease, with associated systemic mastocytosis and acute myeloid leukaemia. Cytogenetic analyses of the bone marrow aspirate revealed the presence of a derivative chromosome giving rise to a partial trisomy of chromosome 1q and a partial monosomy of chromosome 9q...
January 11, 2017: Histopathology
https://www.readbyqxmd.com/read/28069280/a-new-therapeutic-advance-for-symptomatic-systemic-mastocytosis
#4
Michel Arock
No abstract text is available yet for this article.
January 6, 2017: Lancet
https://www.readbyqxmd.com/read/28069279/masitinib-for-treatment-of-severely-symptomatic-indolent-systemic-mastocytosis-a-randomised-placebo-controlled-phase-3-study
#5
Olivier Lortholary, Marie Olivia Chandesris, Cristina Bulai Livideanu, Carle Paul, Gérard Guillet, Ewa Jassem, Marek Niedoszytko, Stéphane Barete, Srdan Verstovsek, Clive Grattan, Gandhi Damaj, Danielle Canioni, Sylvie Fraitag, Ludovic Lhermitte, Sophie Georgin Lavialle, Laurent Frenzel, Lawrence B Afrin, Katia Hanssens, Julie Agopian, Raphael Gaillard, Jean-Pierre Kinet, Christian Auclair, Colin Mansfield, Alain Moussy, Patrice Dubreuil, Olivier Hermine
BACKGROUND: Indolent systemic mastocytosis, including the subvariant of smouldering systemic mastocytosis, is a lifelong condition associated with reduced quality of life. Masitinib inhibits KIT and LYN kinases that are involved in indolent systemic mastocytosis pathogenesis. We aimed to assess safety and efficacy of masitinib versus placebo in severely symptomatic patients who were unresponsive to optimal symptomatic treatments. METHODS: In this randomised, double-blind, placebo-controlled, phase 3 study, we enrolled adults (aged 18-75 years) with indolent or smouldering systemic mastocytosis, according to WHO classification or documented mastocytosis based on histological criteria, at 50 centres in 15 countries...
January 6, 2017: Lancet
https://www.readbyqxmd.com/read/28041932/quantification-of-human-diamine-oxidase
#6
Thomas Boehm, Sophie Pils, Elisabeth Gludovacz, Helen Szoelloesi, Karin Petroczi, Otto Majdic, Andrea Quaroni, Nicole Borth, Peter Valent, Bernd Jilma
OBJECTIVES: Diamine oxidase (DAO) is essential for extracellular degradation of histamine. For decades activity assays with inherent limitations were used to quantify the relative amounts of DAO. No reference DAO standard is available. Absolute DAO amounts cannot be determined. Controversy exists, whether DAO is circulating or not in non-pregnant individuals. The role of DAO as biomarker in various diseases is ambiguous. It is not clear, whether precise quantification of human DAO antigen using commercially available enzyme-linked immunosorbent assays (ELISAs) is possible...
December 29, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/28038453/histone-deacetylase-inhibitor-saha-mediates-mast-cell-death-and-epigenetic-silencing-of-constitutively-active-d816v-kit-in-systemic-mastocytosis
#7
Katarina Lyberg, Hani Abdulkadir Ali, Jennine Grootens, Matilda Kjellander, Malin Tirfing, Michel Arock, Hans Hägglund, Gunnar Nilsson, Johanna Ungerstedt
Systemic mastocytosis (SM) is a clonal bone marrow disorder, where therapeutical options are limited. Over 90% of the patients carry the D816V point mutation in the KIT receptor that renders this receptor constitutively active. We assessed the sensitivity of primary mast cells (MC) and mast cell lines HMC1.2 (D816V mutated), ROSA (KIT WT) and ROSA (KIT D816V) cells to histone deacetylase inhibitor (HDACi) treatment. We found that of four HDACi, suberoyl anilide hydroxamic acid (SAHA) was the most effective in killing mutated MC...
December 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/28031180/mastocytosis-2016-updated-who-classification-and-novel-emerging-treatment-concepts
#8
Peter Valent, Cem Akin, Dean D Metcalfe
Over the past few years substantial advances have been made in understanding the pathogenesis, evolution, and complexity of mast cell neoplasms. New diagnostic and prognostic parameters and novel therapeutic targets with demonstrable clinical impact have been identified. A number of these new markers, molecular targets, and therapeutic approaches have been validated and translated into clinical practice. At the same time, the classification of mastocytosis and related diagnostic criteria have been refined and updated by the consensus group and the World Health Organization (WHO)...
December 28, 2016: Blood
https://www.readbyqxmd.com/read/28003089/an-unusual-case-of-tubulointerstitial-renal%C3%A2-mastocytosis
#9
Maria E Sanhueza, Paula Segura, Guillermo Murray, Ruben Torres, Luis Toro
No abstract text is available yet for this article.
January 2017: Kidney International
https://www.readbyqxmd.com/read/27995272/-mastocytosis-clinical-aspects-diagnostics-therapy
#10
U Lippert
Mastocytosis is a rare, almost exclusively sporadically occurring disease involving an increase in clonal tissue mast cells. The disease spectrum is heterogenous, ranging from isolated skin lesions with a normal life expectancy to rare, aggressive forms with very poor prognosis. Children are often affected. But whereas these almost invariantly display solely a cutaneous mastocytosis with polymorphous skin lesions, in adults the lesions are small and maculopapular and in over 80% of cases accompanied by involvement of bone marrow and the D816V activating mutation of the gene for the c‑Kit receptor...
December 19, 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/27981619/familial-progressive-hyperpigmentation-cutaneous-mastocytosis-and-gastrointestinal-stromal-tumor-as-clinical-manifestations-of-mutations-in-the-c-kit-receptor-gene
#11
Tatiana Piqueres-Zubiaurre, Zuriñe Martínez de Lagrán, Ricardo González-Pérez, Amaia Urtaran-Ibarzabal, Guiomar Perez de Nanclares
BACKGROUND: Familial progressive hyperpigmentation (FPH) is an autosomal dominant disorder characterized by the appearance of hyperpigmented patches on the skin from early infancy that increase in size and number with age. METHODS: We report the clinical and molecular studies of an 11-year-old boy who had areas of hyperpigmentation since birth that had spread across his body as irregular hyperpigmented macules and papules, and include relevant history in family members...
December 16, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27970630/development-and-content-validity-of-the-advanced-systemic-mastocytosis-symptom-assessment-form-advsm-saf
#12
Mazar, E Evans, F Taylor, A Patki, O Ojo, R E Lamoureux, H Horny, A Reiter, J Gotlib, A Shields
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27968936/mast-cell-disorders-kids-are-not-just-little-people
#13
Marti J Rothe, Jane M Grant-Kels, Hanspaul S Makkar
Cutaneous mastocytosis is characterized by a pathologic increase in mast cells in the skin and may also involve extracutaneous organs. Symptoms, which are triggered by mast cell degranulation, vary depending on the burden of skin disease and the presence of extracutaneous disease. The clinical presentation, risk of systemic disease, pathogenesis, prognosis, and treatment options differ, largely depending on age at presentation. In the pediatric population, spontaneous remission is typical, generally by puberty, whereas in adults, progression is observed...
November 2016: Clinics in Dermatology
https://www.readbyqxmd.com/read/27942432/mast-cell-clonal-disorders-classification-diagnosis-and-management
#14
REVIEW
Merel C Onnes, Luciana K Tanno, Joanne N G Oude Elberink
Mast cell clonal disorders are characterized by the clonal proliferation of pathological mast cells as a result of somatic mutations in the KIT gene, most commonly the D816V mutation. Accumulation and degranulation of these cells causes a wide variety of symptoms. Mast cell clonal disorders can be divided into mastocytosis and monoclonal mast cell activation syndrome, depending of the level of clonality. The severity of mastocytosis varies from an indolent variant with a good prognosis, to an aggressive condition with short life expectancy...
2016: Current Treatment Options in Allergy
https://www.readbyqxmd.com/read/27927825/an-update-on-mast-cell-disorders
#15
Hannah Cookson, Clive Grattan
Disorders of mast cell activation can be classified as primary (mastocytosis), secondary (reactive) or idiopathic. This article discusses how to recognise and approach the diagnosis of patients suspected to have symptoms of abnormal mast cell activation. Given the highly varied and often complex symptomatology of such patients, we advocate applying a logical step-wise approach to investigating these patients to ensure the correct diagnosis is made. Treatments of mast cell activation disorders are discussed, dividing them into those that ameliorate the effects of mast cell mediators and those that act to stabilise the mast cell...
December 2016: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/27921051/systemic-mastocytosis-causing-refractory-pruritus-in-a-liver-disease-patient
#16
Naga S Addepally, Jagpal S Klair, Mohit Girotra, Johnny Jones, Farshad Aduli
Systemic mastocytosis (SM) results from clonal, neoplastic proliferation of abnormal mast cells. Patients become susceptible to itching, urticaria, and anaphylactic shock, which occurs due to histamine release from mast cells. SM may coexist alongside other systemic diseases, thus confounding the overall clinical presentation. We discuss a 23-year-old woman with refractory pruritus, which was initially attributed to primary sclerosing cholangitis but had a nonresponse to antihistaminics, ursodiol, and cholestyramine...
August 2016: ACG Case Reports Journal
https://www.readbyqxmd.com/read/27909880/il-9-producing-cells-in-the-development-of-ige-mediated-food-allergy
#17
REVIEW
Dana Shik, Sunil Tomar, Jee-Boong Lee, Chun-Yu Chen, Andrew Smith, Yui-Hsi Wang
Food allergy is a harmful immune reaction driven by uncontrolled type 2 immune responses. Considerable evidence demonstrates the key roles of mast cells, IgE, and TH2 cytokines in mediating food allergy. However, this evidence provides limited insight into why only some, rather than all, food allergic individuals are prone to develop life-threatening anaphylaxis. Clinical observations suggest that patients sensitized to food through the skin early in life may later develop severe food allergies. Aberrant epidermal thymic stromal lymphopoietin and interleukin (IL) 33 production and genetic predisposition can initiate an allergic immune response mediated by dendritic cells and CD4(+)TH2 cells in inflamed skin...
January 2017: Seminars in Immunopathology
https://www.readbyqxmd.com/read/27909577/advances-in-the-understanding-and-clinical-management-of-mastocytosis-and-clonal-mast-cell-activation-syndromes
#18
REVIEW
David González-de-Olano, Almudena Matito, Alberto Orfao, Luis Escribano
Clonal mast cell activation syndromes and indolent systemic mastocytosis without skin involvement are two emerging entities that sometimes might be clinically difficult to distinguish, and they involve a great challenge for the physician from both a diagnostic and a therapeutic point of view. Furthermore, final diagnosis of both entities requires a bone marrow study; it is recommended that this be done in reference centers. In this article, we address the current consensus and guidelines for the suspicion, diagnosis, classification, treatment, and management of these two entities...
2016: F1000Research
https://www.readbyqxmd.com/read/27886904/mastocytosis-and-anaphylaxis
#19
REVIEW
Anna Schuch, Knut Brockow
This article updates current knowledge on epidemiology, risk factors, triggers, and management of anaphylaxis in patients with mastocytosis. Hyperactive mast cells and higher number of effector mast cells are speculated to facilitate anaphylaxis in this condition. In children, increased risk is limited to those with extensive skin involvement and high tryptase. In adults, manifestations of anaphylaxis are severe with high frequency of cardiovascular symptoms. Hymenoptera stings are the most common triggers for these reactions; however, idiopathic anaphylaxis and reactions to food or drugs occur...
February 2017: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/27856463/ccl-2-is-a-kit-d816v-dependent-modulator-of-the-bone-marrow-microenvironment-in-systemic-mastocytosis
#20
Georg Greiner, Nadine Witzeneder, Angelika Berger, Klaus Schmetterer, Gregor Eisenwort, Ana-Iris Schiefer, Simone Roos, Theresia Popow-Kraupp, Leonhard Müllauer, Johannes Zuber, Veronika Sexl, Lukas Kenner, Wolfgang R Sperr, Peter Valent, Matthias Mayerhofer, Gregor Hoermann
Systemic mastocytosis (SM) is characterized by abnormal accumulation of neoplastic mast cells harboring the activating KIT mutation D816V in the bone marrow and other internal organs. Similar to other myeloproliferative neoplasms, increased production of pro-fibrogenic and angiogenic cytokines and related alterations of the bone marrow microenvironment are commonly found in SM. However, only little is known about mechanisms and effector molecules triggering fibrosis and angiogenesis in SM. Here we show that KIT D816V promotes expression of the pro-angiogenic cytokine CCL-2 in neoplastic mast cells...
November 16, 2016: Blood
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