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Systemic mastocytosis

Bogusław Nedoszytko, Magdalena Lange, Joanna Renke, Marek Niedoszytko, Monika Zabłotna, Jolanta Gleń, Roman Nowicki
BACKGROUND: Data on the genetic predisposition to mastocytosis are scarce. The aim of this work was to study the association of single nucleotide polymorphisms of Toll-like receptor (TLR)-2, TLR-4, and TLR-9 genes in Polish patients with mastocytosis. OBJECTIVES: The study comprised 137 patients with mastocytosis (102 cutaneous [60 children and 42 adults] and 35 systemic cases); 171 disease-free individuals were used as controls. METHOD: The frequency of polymorphisms R753Q (rs5743708) of TLR-2, 896 A>G (rs496790) of TLR-4, and -1237C>T (rs5743836) of TLR-9 genes were determined with the use of the amplification refractory mutation system polymerase chain reaction method...
June 15, 2018: International Archives of Allergy and Immunology
Pio Conti, Alessandro Caraffa, Gianpaolo Ronconi, Chiara M Conti, Spiros K Kritas, Filiberto Mastrangelo, Lucia Tettamanti, Theoharis C Theoharides
The purpose of this article is to study the involvement of inflammatory mast cells (MCs) in depression which may be inhibited by IL-37. We evaluate mast cells in depression on the basis of our previous experimental data, and using the most relevant studies reported in the literature. Dysfunction of mood, feelings, and thoughts is a major risk factor for several metabolic diseases and may influence the physiology of the body leading to depression. Depression, present in mastocytosis, is an important endogenous process that promotes the activation of meningeal cell receptors through a low-grade neurogenic chronic inflammation, and MCs...
June 16, 2018: Immunologic Research
Bjorn van Anrooij, Joanne N G Oude Elberink, L F Span, Jan G R de Monchy, Stefano Rosati, André B Mulder, Johanna C Kluin-Nelemans
This is the first report on a trial using a Kit D816V targeting drug in indolent systemic mastocytosis. The results indicate midostaurin to be effective in reducing symptom severity and improving quality of life.
June 8, 2018: Journal of Allergy and Clinical Immunology
Jerome Ngo, Marie-Anne Morren, Christine Bodemer, Marianne Heimann, Jacques Fontaine
Case series summary Cutaneous mastocytosis is a disorder rarely reported in veterinary dermatology and usually described as 'urticaria pigmentosa'. This study aimed to evaluate the diagnosis, treatment and outcome of 13 affected cats, selected from the files of a private referral dermatology practice within a period of 14 years. Breeds of the affected individuals included Sphynx (n = 9), Devon Rex (n = 2) and Sphynx/Devon Rex crossbreeds (n = 2). Females (n = 9) were over-represented and the median duration of clinical signs prior to diagnosis was 8 months...
June 1, 2018: Journal of Feline Medicine and Surgery
Geisilene Russano de Paiva Silva, Emilie Tournier, Luis Otávio Sarian, Cristina Bulai-Livideanu, Georges Delsol, Laurence Lamant, José Vassallo, Pierre Brousset, Camille Laurent
Mastocytosis is a rare disease characterized by clonal neoplastic proliferation of mast cells (MCs). It ranges from skin lesions as cutaneous mastocytosis (CM) which may spontaneously regress to highly aggressive neoplasms with multiorgan involvement corresponding to some aggressive systemic mastocytosis (ASM), mast cell leukemia (MCL), and/or mast cell sarcoma (MCS).There is increasing evidence of CD30 expression in neoplastic MCs of the bone marrow. This expression has been described almost exclusively in aggressive forms of systemic mastocytosis (SM)...
May 2018: Medicine (Baltimore)
J Miller, S B Clough, R C Pollard, S A Misbah
BACKGROUND: Perioperative anaphylaxis (POA) is infrequent, but remains an important and potentially life-threatening complication of general anaesthesia. The diagnostic uncertainty surrounding the investigation of anaesthetic allergy poses numerous challenges. We aimed to inform practice by auditing the outcomes of repeat anaesthesia, after an investigation for previous POA. METHODS: One-hundred and seventy-four subjects were investigated after suspected POA between December 2002 and August 2015...
June 2018: British Journal of Anaesthesia
L Gui, L J Chen, Y J Wu, C Qiao, J F Zhang, J Y Li, R Wang, Y Wang, J Xu
No abstract text is available yet for this article.
May 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
Manidipam Chatterjee, Saikat Sengupta, Chandrashish Chakravarty, Suresh Ramasubban, Shilpa Bhartia, Sujoy Khan, Vikash Kumar Agarwal
Systemic mastocytosis is a rare disease due to abnormal proliferation of mast cells (MCs). A case of indolent systemic mastocytosis is presented here. After anesthetic induction for elective thyroid swelling with propofol and atracurium followed by endotracheal intubation, a 57-year-old female patient developed acute hypotension, sinus tachycardia, red rashes, increased airway pressure along with difficult ventilation, and desaturation. She developed multiorgan failure subsequently. MC tryptase level was persistently high...
April 2018: Indian Journal of Critical Care Medicine
Suéllen Trentin Brum, Ana Paula Demasi, Rafael Fantelli Stelini, Maria Letícia Cintra, Vera Cavalcanti de Araujo, Andresa Borges Soares
Endoglin, known to be expressed in proliferating vessels, is of worth when evaluating microvessel density as a prognostic factor in many types of malignancies, including some subtypes of leukemia cells. In childhood acute lymphoblastic leukemia, endoglin is associated with adverse outcome. In bone marrow, endoglin identifies the repopulating hematopoietic stem cells. Mast cells are a component of normal tissue and play an important role in the regulation of several processes, including inflammation and neoplasia...
May 4, 2018: Applied Immunohistochemistry & Molecular Morphology: AIMM
Non Hyeon Ha, Yoo Jung Lee, Myong Chul Park, Il Jae Lee, Sue Min Kim, Dong Ha Park
Mastocytosis is a rare disease which occurs in both children and adults, and it can manifest as a solitary or multiple skin lesions. Both can cause cutaneous or systemic symptoms. Because of the heterogeneity of clinical presentation of mastocytosis and its rare prevalence, it can be hard to suspect the mastocytosis at the first time. Most solitary mastocytomas are about 1-5 cm in diameter and have features of brownish-yellow, minimally elevated plaques with a smooth shiny surface. This article presents a case of solitary mastocytoma which occurred in neonate and that we treated through surgical excision...
April 28, 2018: Archives of Craniofacial Surgery
Mrinal M Patnaik, Rangit Vallapureddy, Terra L Lasho, Katherine P Hoversten, Christy M Finke, Rhett P Ketterling, Curtis A Hanson, Naseema Gangat, Ayalew Tefferi, Animesh Pardanani
No abstract text is available yet for this article.
April 2, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Robert Roskoski
The Kit proto-oncogene was found as a consequence of the discovery of the feline v-kit sarcoma oncogene. Stem cell factor (SCF) is the Kit ligand and it mediates Kit dimerization and activation. The Kit receptor contains an extracellular segment that is made up of five immunoglobulin-like domains (D1/2/3/4/5), a transmembrane segment, a juxtamembrane segment, a protein-tyrosine kinase domain that contains an insert of 77 amino acid residues, and a carboxyterminal tail. Activating somatic mutations in Kit have been documented in various neoplasms including gastrointestinal stromal tumors (GIST), mast cell overexpression (systemic mastocytosis), core-binding factor acute myeloid leukemias (AML), melanomas, and seminomas...
April 25, 2018: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
J J Zhu, D Mahendran, M H Lee, J Seah, S Fourlanos, S Varadarajan, A Ghasem-Zadeh, R J MacIsaac, E Seeman
Two women presenting with fragility fractures during lactation had bone mineral density (BMD) reduced more greatly than usually associated with lactation. The first woman was 29 years old with a BMD T-score of - 3.2 SD at the spine and- 2.0 SD at the femoral neck. The second woman was 35 years old with a BMD T-score of - 4.5 SD at the spine and - 2.8 SD at the femoral neck. Both women had increased cortical porosity and reduced trabecular density. Investigation identified an elevated serum tryptase, and marrow biopsy confirmed the diagnosis of mastocytosis...
April 4, 2018: Osteoporosis International
Rosario M Morales-Camacho, Sandra Villanueva-Herraiz, Concepción Prats-Martín, Juan J Borrero, Ricardo Bernal, M Teresa Vargas
No abstract text is available yet for this article.
June 2018: British Journal of Haematology
Ashvind A Prabahran, Surender K Juneja
No abstract text is available yet for this article.
March 29, 2018: Blood
Nathan K Jamison, Emily G Holmes
No abstract text is available yet for this article.
February 12, 2018: Psychosomatics
M A W Hermans, S Q A van der Vet, P M van Hagen, R Gerth van Wijk, P L A van Daele
BACKGROUND: Patients with mastocytosis are at increased risk of anaphylaxis. The use of nonsteroidal anti-inflammatory drugs (NSAIDs) is often discouraged because of this reason. However, the actual prevalence and severity of NSAID-related hypersensitivity among patients with mastocytosis is unknown. METHODS: A double-blind, placebo-controlled acetylsalicylic acid (ASA) challenge up to a cumulative dose of 520 mg was performed among adult patients with mastocytosis...
March 22, 2018: Allergy
Michael C Olson, Thomas D Atwell, John M Knudsen
Severe adverse reactions to ultrasound (US) contrast agents are rare, and only a few cases of anaphylaxis following the administration of US contrast agents have been reported, often without a defined etiology. We present a case of anaphylactic reaction to the injection of an US contrast agent in a patient with systemic mastocytosis, which highlights the disorder as a possible risk factor warranting additional consideration prior to performing a contrast-enhanced US examination.
March 8, 2018: Journal of Clinical Ultrasound: JCU
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