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https://www.readbyqxmd.com/read/29233825/rapid-responses-to-avapritinib-blu-285-in-mastocytosis
#1
(no author information available yet)
In a phase I trial of avapritinib (formerly BLU-285), which targets D816V mutant KIT, for the treatment of advanced systemic mastocytosis, patients experienced rapid and durable disease control. The overall response rate was 72%, and 56% of patients experienced a complete or partial response. No patients discontinued treatment due to adverse events, most of which were mild to moderate in nature.
December 12, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/29227868/systemic-mastocytosis-associates-with-cardiovascular-events-despite-lower-plasma-lipid-levels
#2
Swasti Indhirajanti, Paul L A van Daele, Sven Bos, Monique T Mulder, Ilze Bot, Jeanine E Roeters van Lennep
BACKGROUND AND AIMS: Mast cells have been implicated in the development and progression of atherosclerosis in animal models and human autopsy studies. However, it is unknown whether long-term exposure to excess of mast cells is associated with cardiovascular disease (CVD) in humans. Our objective was to compare the prevalence of CVD and cardiovascular risk factors in patients with systemic mastocytosis (SM) and controls. METHODS: In 50 patients with SM and 50 age and sex matched controls, the history of CVD and presence of cardiovascular risk factors were assessed...
December 8, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29225841/multiple-large-osteolytic-lesions-in-a-patient-with-systemic-mastocytosis-a-challenging-diagnosis
#3
Massimiliano Bonifacio, Roberta Zanotti, Emanuele Guardalben, Elda Mimiola, Francesca Scognamiglio, Omar Perbellini, Giovanna De Matteis, Luis Escribano, Patrizia Bonadonna, Daniela Grigolato, Sergio Bissoli, Alice Parisi, Alberto Zamò, Achille Ambrosetti, Maurizio Rossini
Patients with advanced variants of Systemic Mastocytosis may develop destructive bone lesions when massive mast cell (MC) infiltrates are present. Finding of large osteolyses in indolent systemic mastocytosis, typically characterized by low MC burden, should prompt investigations for an alternative explanation.
December 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29225779/risk-of-solid-cancer-in-patients-with-mast-cell-activation-syndrome-results-from-germany-and-usa
#4
Gerhard J Molderings, Thomas Zienkiewicz, Jürgen Homann, Markus Menzen, Lawrence B Afrin
Background:  It has been shown repeatedly that mast cells can promote or prevent cancer development and growth. If development and/or progression of a solid cancer is substantially influenced by mast cell activity, the frequencies of occurrence of solid cancers in patients with primary mast cells disorders would be expected to differ from the corresponding prevalence data in the general population. In fact, a recent study demonstrated that patients with systemic mastocytosis (i.e., a rare neoplastic variant of the primary mast cell activation disease) have increased risk for solid cancers, in particular melanoma and non-melanoma skin cancers...
2017: F1000Research
https://www.readbyqxmd.com/read/29223146/investigation-of-mast-cell-toll-like-receptor-3-in-chronic-fatigue-syndrome-myalgic-encephalomyelitis-and-systemic-mastocytosis-participants-using-the-novel-application-of-automacs-magnetic-separation-and-flow-cytometry
#5
Cassandra Balinas, Thao Nguyen, Samantha Johnston, Peter Smith, Donald Staines, Sonya Marshall-Gradisnik
BACKGROUND: Viral infections and hypersensitivities are commonly reported by Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME) patients. Mast Cells (MC) uniquely mediate type 1 hypersensitivities and resolve viral infections via toll-like receptor 3 (TLR3). OBJECTIVE: To characterise and compare mast cell progenitors (MCPs) in CFS/ME participants with a known MC disorder, Systemic mastocytosis (SM), and secondly, to investigate the role of MC TLR3 in CFS/ME participants following Polyinosinic:polycytidylic acid (Poly I:C) stimulation...
December 10, 2017: Asian Pacific Journal of Allergy and Immunology
https://www.readbyqxmd.com/read/29212100/lower-prevalence-of-vitamin-d-insufficiency-in-german-patients-with-systemic-mast-cell-activation-syndrome-compared-with-the-general-population
#6
Stefan Wirz, Hans-Jörg Hertfelder, Holger Seidel, Jürgen Homann, Gerhard J Molderings
Introduction The common mastocytosis variant systemic mast cell activation syndrome (MCAS) may underlie at least a subset of patients with irritable bowel syndrome (IBS). A critical role of vitamin D (VD) in the stabilization of mast cells (MCs) with deficiency of VD resulting in MC activation has been demonstrated. If so, supplementation of VD would be a potential therapeutic approach in the treatment of those IBS patients. Methods We investigated in the present study for the first time systematically whether the VD level in 100 MCAS patients differed from that in the German general population (Ggp) and made a first attempt to elucidate potential reasons for possible differences by simultaneously determining the blood levels of heparin and cholesterol...
December 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/29202591/venom-immunotherapy-in-patients-with-allergic-reactions-to-insect-stings
#7
Cristoforo Incorvaia, Marina Mauro, Bruna L Gritti, Eleni Makri, Erminia Ridolo
Allergy to Hymenoptera (Apis mellifera, Vespula species, Polistes species, Vespa crabro) venom can be safely and effectively treated by venom immunotherapy (VIT), which in the 40 years since its introduction has been able to prevent reactions to stings, and to treatment as well, though systemic reactions, occasionally severe, are possible. Areas covered: We reviewed the recent literature on VIT by searching in PubMed for the terms "venom immunotherapy" and "Hymenoptera venom immunotherapy" to highlight the current status of VIT and the likely development in the coming years...
December 5, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/29196283/ringed-telangiectasias-an-unusual-presentation-of-telangiectasia-macularis-eruptiva-perstans
#8
Laila Siddique, Hadjh Ahrns, Elizabeth Seiverling
Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis. While most cutaneous mastocytoses occur in children and are asymptomatic, TMEP occurs predominantly in adults and is associated with systemic manifestations, requiring medical management. TMEP is typically characterised by scattered red-brown macules on the trunk and extremities, but must be differentiated from other telangiectatic conditions such as scleroderma, hereditary haemorrhagic telangiectasia and telangiectasias secondary to cirrhosis...
November 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29196147/mast-cells-as-drivers-of-disease-and-therapeutic-targets
#9
REVIEW
Frank Siebenhaar, Frank A Redegeld, Stephan C Bischoff, Bernhard F Gibbs, Marcus Maurer
Mast cells (MCs) contribute to the pathogenesis of a multitude of diseases that include MC-driven disorders such as urticaria, type I allergies, and mastocytosis as well as autoimmune and other inflammatory disorders and malignant tumors. Here, we review and discuss the results of studies that identified and characterized how MCs contribute to disease and, importantly, what strategies may be used to target MCs and MC effects therapeutically. Specifically, we discuss the most common approaches for investigating the role and relevance of MCs in various diseases...
November 28, 2017: Trends in Immunology
https://www.readbyqxmd.com/read/29192973/neonatal-aggressive-systemic-mastocytosis
#10
J E Mellerio
No abstract text is available yet for this article.
November 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/29174093/novel-gnb1-de-novo-mutation-in-a-patient-with-neurodevelopmental-disorder-and-cutaneous-mastocytosis-clinical-report-and-literature-review
#11
Krzysztof Szczałuba, Anna Biernacka, Krystyna Szymańska, Piotr Gasperowicz, Joanna Kosińska, Małgorzata Rydzanicz, Rafał Płoski
De novo monoallelic mutations in the GNB1 gene, encoding a β subunit of heterotrimeric G proteins, cause a newly recognized disorder with the typical clinical picture of severe developmental delay/intellectual disability, hypotonia and extrapyramidal symptoms. We describe another case of the condition with manifestations of cutaneous mastocytosis associated with a novel do novo mutation GNB1NM_001282539.1: c.230G > T; p.(Gly77Val). We also present the detailed clinical and etiopathogenetic discussion on previously diagnosed patients as well as suggestions for the link of the mutation with skin disease...
November 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29162529/vulvar-nodules-a-rare-presentation-of-mastocytosis
#12
Ashli Lawson, Adnan Mir, Ellen E Wilson
BACKGROUND: Mastocytosis is a rare benign disorder characterized by the finding of mast cells in the skin and other organs, occurring in both adult and pediatric age groups. The cutaneous form is the most common presentation in childhood and is rarely located on the vulva. CASE: A 9 year old prepubertal girl presented with bilateral vulvar nodules found incidentally by her pediatrician. Biopsy and histopathologic review confirmed mastocytosis. Her lesions significantly diminished over the following year...
November 18, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29162274/maxillar-osteonecrosis-associated-to-denosumab-in-a-patient-with-systemic-mastocytosis
#13
José Darío Sánchez López, Paolo Cariati, Miguel Pérez de Perceval Tara
No abstract text is available yet for this article.
November 18, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/29161766/identification-of-alpha-gal-sensitivity-in-patients-with-a-diagnosis-of-idiopathic-anaphylaxis
#14
Melody C Carter, Karina N Ruiz-Esteves, Lisa Workman, Philip Lieberman, Thomas A E Platts-Mills, Dean D Metcalfe
IgE antibodies (Ab) specific to galactose-α-1,3-galactose (alpha-gal) are responsible for a delayed form of anaphylaxis that occurs 3 to 6 hours after red meat ingestion. In a unique prospective study of seventy participants referred with a diagnosis of idiopathic anaphylaxis (IA), six (9%) were found to have IgE to alpha-gal. Upon institution of a diet free of red meat, all patients had no further episodes of anaphylaxis. Two of these individuals had indolent systemic mastocytosis (ISM). Those with ISM had more severe clinical reactions but lower specific IgE to alpha-gal and higher serum tryptase levels, reflective of the mast cell burden...
November 21, 2017: Allergy
https://www.readbyqxmd.com/read/29148588/pleomorphic-mastocytoma-in-an-adult
#15
Vicente Exposito-Serrano, Eugenia Agut-Busquet, Lorena Leal Canosa, Jose Herrerías Moreno, Amparo Saez, Jesús Luelmo
A cutaneous mastocytoma (CM) is a clinical variant of cutaneous mastocytosis. It is defined as the presence of up to 3 isolated mast cell skin lesions. When only 1 lesion is observed, the patient is classified as having a solitary mastocytoma, and when 4 or more lesions are observed, the patient should be classified as having urticaria pigmentosa (1).
November 17, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/29137311/crenolanib-is-a-type-i-tyrosine-kinase-inhibitor-that-inhibits-mutant-kit-d816-isoforms-prevalent-in-systemic-mastocytosis-and-core-binding-factor-leukemia
#16
Kerstin Maria Kampa-Schittenhelm, Julia Frey, Lara A Haeusser, Barbara Illing, Ashly A Pavlovsky, Gunnar Blumenstock, Marcus Matthias Schittenhelm
Activating D816 mutations of the class III receptor tyrosine kinase KIT are associated with the majority of patients with systemic mastocytosis (SM), but also core binding factor (CBF) AML, making KIT mutations attractive therapeutic targets for the treatment of these cancers. Crenolanib is a potent and selective inhibitor of wild-type as well as mutant isoforms of the class III receptor tyrosine kinases FLT3 and PDGFRα/β. Notably, crenolanib inhibits constitutively active mutant-FLT3 isoforms resulting from amino acid substitutions of aspartic acid at codon 835, which is homologous to codon 816 in the KIT gene - suggesting sensitivity against mutant-KIT D816 isoforms as well...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29130935/histamine-releasing-factor-enhances-food-allergy
#17
Tomoaki Ando, Jun-Ichi Kashiwakura, Naoka Itoh-Nagato, Hirotaka Yamashita, Minato Baba, Yu Kawakami, Shih Han Tsai, Naoki Inagaki, Kiyoshi Takeda, Tsutomu Iwata, Naoki Shimojo, Takao Fujisawa, Mizuho Nagao, Kenji Matsumoto, Yuko Kawakami, Toshiaki Kawakami
Food allergy occurs due to IgE- and mast cell-dependent intestinal inflammation. Previously, we showed that histamine-releasing factor (HRF), a multifunctional protein secreted during allergy, interacts with a subset of IgE molecules and that the HRF dimer activates mast cells in an HRF-reactive IgE-dependent manner. In this study, we investigated whether HRF plays any role in food allergy. Specifically, we determined that prophylactic and therapeutic administration of HRF inhibitors that block HRF-IgE interactions reduces the incidence of diarrhea and mastocytosis in a murine model of food allergy...
November 13, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29128073/mast-cell-disease-assessment-by-flow-cytometric-analysis
#18
REVIEW
Jacqueline M Cortazar, David M Dorfman
Mast cells are present at a low frequency in bone marrow, rendering high-sensitivity multiparametric flow cytometric analysis an ideal method to assess antigen expression on mast cells. This article discusses the normal antigen expression profile of mast cells, established criteria to identify neoplastic mast cells, and new immunophenotypic markers and approaches to identify the presence of neoplastic mast cells in cases of mastocytosis.
December 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29117990/simultaneous-physiologically-based-pharmacokinetic-pbpk-modeling-of-parent-and-active-metabolites-to-investigate-complex-cyp3a4-drug-drug-interaction-potential-a-case-example-of-midostaurin
#19
Helen Gu, Catherine Dutreix, Sam Rebello, Taoufik Ouatas, Lai Wang, Dung Yu Chun, Heidi J Einolf, Handan He
Midostaurin (PKC412) is being investigated for the treatment of acute myeloid leukemia (AML) and advanced systemic mastocytosis (advSM). It is extensively metabolized by cytochrome P450 (CYP) 3A4 to form 2 major active metabolites, CGP52421 and CGP62221. In vitro and clinical drug-drug interaction (DDI) studies indicated that midostaurin and its metabolites are substrates, reversible and time-dependent inhibitors, and inducers of CYP3A4. A simultaneous pharmacokinetic model of parent and active metabolites was initially developed by incorporating data from in vitro, preclinical, and clinical pharmacokinetic studies in healthy volunteers and in patients with AML or advSM...
November 8, 2017: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/29107667/fgfr1-translocation-with-concurrent-myeloproliferative-neoplasm-systemic-mastocytosis-and-lymphoblastic-lymphoma-a-case-report
#20
Koping Chang, Jia-Hau Liu, Shan-Chi Yu, Chung-Wu Lin
FGFR1 translocation may cause myeloid or lymphoid neoplasm but rarely systemic mastocytosis (SM). Conversely, SM is associated with myeloproliferative neoplasm (MPN), but rarely lymphoblastic lymphoma (LBL) or FGFR1 translocation. We report the first case of FGFR1 translocation in a patient with concurrent LBL, MPN, and SM. A 21-year-old male patient presented with diffuse lymphadenopathies and leukocytosis. TdT(+)/cytoCD3(+)/CD79a(weakly+) LBL was identified in the lymph node. Bone marrow had MPN, SM, and TdT(+)/CD79a(+)/cytoCD3(weakly+) LBL...
October 28, 2017: Human Pathology
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