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JOURNAL ARTICLE
William J Nahm, Denise J Corriveau, Chris A Mathe, W Austin Wyant, Carlos Vega, Anita Arthur, K Chris Min
Mastocytosis is a group of disorders characterized by the pathologic accumulation of mast cells in various tissues. One example of mastocytosis is urticaria pigmentosa, which presents with mastocytomas that can cause hives and, when irritated, pruritus. To our knowledge, we are describing the first case of urticaria pigmentosa without pruritus. The patient had a positive Darier's sign, stated that they never felt itchy, and denied ever using a topical steroid or antihistamine. Although our patient declined additional testing, patients like this may benefit from a detailed evaluation of their sensory system through both quantitative sensory testing and genetic analysis...
March 1, 2024: Journal of Drugs in Dermatology: JDD
#22
JOURNAL ARTICLE
Yannick Degboé, Maella Severino-Freire, Guillaume Couture, Pol-André Apoil, Nicolas Gaudenzio, Olivier Hermine, Adeline Ruyssen-Witrand, Carle Paul, Michel Laroche, Arnaud Constantin, Cristina Bulai Livideanu
BACKGROUND: Systemic mastocytosis (SM) is a clonal disorder of mast cells frequently associated with vertebral osteoporosis (OP) and subsequent vertebral fractures. The natural history of this OP remains unclear. Importantly, we do not know whether OP represents an early event triggered alongside mast cell abnormalities, and whether mast cell clonality is sufficient to trigger osteoporosis. OBJECTIVE: To describe OP in patients with medullar clonality in cutaneous mastocytosis (CM) and monoclonal mast cell activation syndrome (MMAS) and to compare their osteoporosis characteristics to those of non-advanced SM patients (bone marrow mastocytosis (BMM) and indolent systemic mastocytosis (ISM))...
February 27, 2024: Journal of Allergy and Clinical Immunology in Practice
#23
JOURNAL ARTICLE
Arantza Vega-Castro, Gaspar Dalmau-Duch, Lluís Marquès, David González-de-Olano, Berta Ruiz-León
No abstract text is available yet for this article.
February 27, 2024: Journal of Allergy and Clinical Immunology in Practice
#24
Terrence Sun, Marin Xavier
Low dose Avapritinib is a new medication that is a potential treatment option not just for advanced systemic mastocytosis, but also for the indolent form.
February 2024: Clinical Case Reports
#25
JOURNAL ARTICLE
Stefania Nicola, Marina Mazzola, Luca Lo Sardo, Erika Montabone, Iuliana Badiu, Federica Corradi, Maria Carmen Rita Azzolina, Maurizio Gaspare Dall'Acqua, Giovanni Rolla, Irene Ridolfi, Anna Quinternetto, Luisa Brussino
Background In the past three years, COVID-19 has had a significant impact on the healthcare systems and people's safety worldwide. Mass vaccinations dramatically improved the health and economic damage caused by SARS-CoV-2. However, the safety of COVID-19 vaccines in patients at high risk of allergic reactions still has many unmet needs that should be clarified. Material and methods A retrospective, single-centre study was performed by collecting demographic and clinical data of patients with Mast Cell Disorders (MCDs) to evaluate the safety and tolerability of COVID-19 vaccinations...
February 16, 2024: Vaccines
#26
JOURNAL ARTICLE
Simin Zhang, Julie M Caldwell, Mark Rochman, Margaret H Collins, Marc E Rothenberg
BACKGROUND: Eosinophilic esophagitis (EoE) is diagnosed and monitored using esophageal eosinophil levels; however, EoE also exhibits a marked, understudied esophageal mastocytosis. OBJECTIVE: Using machine learning, we localized and characterized esophageal mast cells to decipher their potential role in disease pathology. METHODS: Esophageal biopsy samples (EoE, control) were stained for mast cells by anti-tryptase and imaged using immunofluorescence; high-resolution whole tissue images were digitally assembled...
February 21, 2024: Journal of Allergy and Clinical Immunology
#27
JOURNAL ARTICLE
Anna Bergström, Hans Hägglund, Anders Berglund, Gunnar Nilsson, Mats Lambe
BACKGROUND: Mastocytosis is a disease characterized by accumulation of aberrant mast cells and mediator-related symptoms and is divided into systemic mastocytosis (SM) and cutaneous mastocytosis (CM). The epidemiology of mastocytosis remains incompletely understood. OBJECTIVE: To estimate the incidence, prevalence, overall survival (OS) and burden of comorbidities in adult mastocytosis patients identified in Swedish population-based registries. METHODS: Individuals (≥ 20 years of age) with a mastocytosis diagnosis in the National Patient Register (NPR) and/or the Swedish Cancer Register (SCR) between 2001 and 2018, were identified...
February 21, 2024: Acta Oncologica
#28
JOURNAL ARTICLE
Okechukwu Valentine Nwogbo, Hong Fang, Wei Wang, Jie Xu, Roberto N Miranda, Prithviraj Bose, Chi Young Ok, Jeffrey L Jorgensen, L Jeffrey Medeiros, Sa A Wang
OBJECTIVES: Flow cytometric immunophenotyping (FCI) is a fast and sensitive method for characterizing hematolymphoid neoplasms. It is not widely used in the workup of systemic mastocytosis (SM), in part because of the technical challenges and in part because the utility of FCI in assessing mast cells is not well understood. The objectives of this study were to assess the diagnostic utility of FCI in establishing a diagnosis of SM and distinguishing SM from nonneoplastic mast cells and to examine the immunophenotypic findings among SM subtypes...
February 19, 2024: American Journal of Clinical Pathology
#29
JOURNAL ARTICLE
Nicole Naumann, Martina Rudelius, Johannes Lübke, Deborah Christen, Jakob Bresser, Karl Sotlar, Georgia Metzgeroth, Alice Fabarius, Wolf-Karsten Hofmann, Jens Panse, Hans-Peter Horny, Nicholas C P Cross, Andreas Reiter, Juliana Schwaab
Within our nationwide registry, we identified a KIT D816V mutation ( KIT D816Vpos.) in 280/299 (94%) patients with advanced systemic mastocytosis (AdvSM). Age, cytopenias and the presence of additional somatic mutations confer inferior overall survival (OS). However, little is known about the characteristics of KIT D816V-negative (D816Vneg. ) AdvSM. In 19 D816Vneg. patients, a combination of clinical, morphological and genetic features revealed three subgroups: (a) KIT D816H- or Y-positive SM ( KIT D816H/Ypos...
January 30, 2024: Cancers
#30
REVIEW
Agnieszka Rydz, Magdalena Lange, Hanna Ługowska-Umer, Monika Sikorska, Roman J Nowicki, Cristina Morales-Cabeza, Iván Alvarez-Twose
Mastocytosis is a heterogeneous disease characterized by the expansion and accumulation of neoplastic mast cells in various tissues. Diffuse cutaneous mastocytosis (DCM) is a rare and most severe form of cutaneous mastocytosis, which typically occurs in childhood. There have been reports of a familial DCM with specific gene mutations, indicating both sporadic and hereditary factors involved in its pathogenesis. DCM is associated with severe MC mediator-related symptoms and an increased risk of anaphylaxis. The diagnosis is based on the appearance of skin lesions, which typically show generalized thickening, erythroderma, blistering dermographism, and a positive Darier's sign...
January 23, 2024: International Journal of Molecular Sciences
#31
EDITORIAL
Dean D Metcalfe
Mast cells are present in all vascularized tissues, often associated with blood vessels, glandular structures, and nerves, and they tend to be more numerous in tissues that interface with the external environment, including the skin and gastrointestinal tract. These mast cells are involved in both innate and acquired immunity, as well as in other biologic processes, including wound healing. Mast cell numbers within tissues are remarkably consistent, although mast cell numbers somewhat increase in association with inflammation...
June 2023: NEJM Evid
#32
RANDOMIZED CONTROLLED TRIAL
Jason Gotlib, Mariana Castells, Hanneke Oude Elberink, Frank Siebenhaar, Karin Hartmann, Sigurd Broesby-Olsen, Tracy I George, Jens Panse, Iván Alvarez-Twose, Deepti H Radia, Tsewang Tashi, Cristina Bulai Livideanu, Vito Sabato, Mark Heaney, Paul Van Daele, Sonia Cerquozzi, Ingunn Dybedal, Andreas Reiter, Thanai Pongdee, Stéphane Barete, Celalettin Ustun, Lawrence Schwartz, Brant R Ward, Philippe Schafhausen, Peter Vadas, Prithviraj Bose, Daniel J DeAngelo, Lindsay Rein, Pankit Vachhani, Massimo Triggiani, Patrizia Bonadonna, Mark Rafferty, Nauman M Butt, Stephen T Oh, Friederike Wortmann, Johanna Ungerstedt, Mar Guilarte, Minakshi Taparia, Andrew T Kuykendall, Cecilia Arana Yi, Princess Ogbogu, Caroline Gaudy-Marqueste, Mattias Mattsson, William Shomali, Matthew P Giannetti, Ilda Bidollari, Hui-Min Lin, Erin Sulllivan, Brenton Mar, Robyn Scherber, Maria Roche, Cem Akin, Marcus Maurer
Avapritinib in Indolent Systemic MastocytosisIn a randomized trial, patients with indolent systemic mastocytosis were treated with avapritinib or placebo along with supportive care. The trial primary end point was the change in mean total symptom scores at 24 weeks. Avapritinib-treated patients had a decrease in mean total symptom score of 15.6 points compared with 9.2 points in the placebo group.
June 2023: NEJM Evid
#33
Shamma Khamis Almheiri, Jaheersha Pakran, Amani Abdulla AlFalasi, Reem El Bahtimi
Mastocytosis is a disease of the mast cells caused by an increase in the number of mast cells due to abnormal proliferation. The disease is associated with a mutation in the c-kit gene, which is a key factor in the development of mast cells. Mastocytosis is classified into two main groups, namely, cutaneous and systemic mastocytosis, based on the site of mast cell accumulation. In cutaneous mastocytosis, the cells purely gather in the skin. In contrast, systemic mastocytosis must affect an internal organ, including the bone marrow, lymph nodes, liver, spleen, and/or the gastrointestinal tract with or without skin involvement...
January 2024: Curēus
#34
JOURNAL ARTICLE
Evelyne da Silva Brum, Maria Fernanda Pessano Fialho, Gabriela Becker, Cristina Wayne Nogueira, Sara Marchesan Oliveira
Fibromyalgia is a painful disorder of unknown aetiology that presents activation and recruitment of innate immune cells, including mast cells. Efforts have been made to understand its pathogenesis to manage it better. Thus, we explored the involvement of peripheral mast cells in an experimental model of fibromyalgia induced by reserpine. Reserpine (1 mg/kg) was subcutaneously (s.c.) injected once daily in the back of male Swiss mice for three consecutive days. We analysed mechanical and cold allodynia, muscle fatigue and number of mast cell in plantar tissue...
March 15, 2024: European Journal of Pharmacology
#35
REVIEW
Peter Valent, Cem Akin, Michel Arock
PURPOSE OF REVIEW: Mast cell (MC) activation syndromes (MCAS) are conditions defined by recurrent episodes of severe systemic anaphylaxis or similar systemic events triggered by MC-derived mediators that can be measured in biological fluids. Since some symptoms of MC activation may occur due to other, non-MC etiologies and lead to confusion over diagnosis, it is of crucial importance to document the involvement of MC and their products in the patients´ symptomatology. RECENT FINDINGS: The most specific and generally accepted marker of severe systemic MC activation is an event-related, transient increase in the serum tryptase level over the individual baseline of the affected individual...
March 2024: Current Allergy and Asthma Reports
#36
JOURNAL ARTICLE
Pablo López Sanz, Claudia Guerrero Ramírez, Silvia Manso Córdoba, María Encarnación Alfaro Martínez, Alicia Bascuñana Mendoza, María Encarnación Gómez Sánchez, María Luisa Martínez Martínez, José Manuel Azaña Defez
Mast cells (MCs) can release a variety of biologically active mediators under different circumstances, such as fever or vaccination. Our aim was to evaluate the incidence and severity of MC activation symptoms induced by SARS-CoV-2 virus (COVID-19) infection and vaccination in a cohort of 92 pediatric patients with cutaneous mastocytosis. Our findings support previous evidence on the safety of COVID-19 infection and vaccination in patients with MC disorders.
February 2, 2024: Pediatric Dermatology
#37
J Anthony Parker, Runhua Hou
BACKGROUND/OBJECTIVE: Patients with systemic mastocytosis are at high risk of developing osteoporosis and fractures. Herein, we report a case of hip fragility fracture in a patient with indolent systemic mastocytosis and normal bone density. CASE REPORT: A 48-year-old man experienced a left femoral neck fracture after a fall. After a dose of oxycodone/hydromorphone postoperatively, he developed an anaphylactic reaction. Previously, he experienced a few other episodes of flushing, dizziness, and syncope precipitated by stress and alcohol...
2024: AACE Clinical Case Reports
#38
JOURNAL ARTICLE
Alba Pérez-Pons, Cristina Teodosio, María Jara-Acevedo, Ana Henriques, Paula Navarro-Navarro, Andrés C García-Montero, Iván Álvarez-Twose, Quentin Lecrevisse, Rafael Fluxa, Laura Sánchez-Muñoz, Carolina Caldas, Julio Pozo, Silvia Martín, Teresa Contreras Sanfeliciano, Carlos E Pedreira, Vitor Botafogo, Oscar González-López, Andrea Mayado, Alberto Orfao
BACKGROUND: Systemic mastocytosis (SM) is a heterogeneous disease characterized by an expansion of KIT-mutated mast cells (MC). KIT-mutated MC display activated features and release MC mediators that might act on the tumour microenvironment and other immune cells. Here, we investigated the distribution of lymphocyte subsets in blood of patients with distinct subtypes of SM and determined its association with other disease features. METHODS: We studied the distribution of TCD4+ and TCD4- cytotoxic cells and their subsets, as well as total NK- and B cells, in blood of 115 SM patients-38 bone marrow mastocytosis (BMM), 67 indolent SM (ISM), 10 aggressive SM (ASM)- and 83 age-matched healthy donors (HD), using spectral flow cytometry and the EuroFlow Immunomonitoring panel, and correlated it with multilineage KITD816V , the alpha-tryptasemia genotype (HαT) and the clinical manifestations of the disease...
February 1, 2024: Allergy
#39
REVIEW
Jennifer Nicoloro-SantaBarbara, Marzieh Majd, Katherine E Burdick, Victoria Dixon, Matthew P Giannetti
PURPOSE OF REVIEW: Symptoms of depression and cognitive dysfunction are commonly reported in mastocytosis. The aims of this review paper are to summarize the current literature on cognitive dysfunction and depressive symptoms, elucidate some of the mechanistic pathways underlying depressive symptoms in mastocytosis, identify gaps in the literature, and offer guidance for future research in this area. RECENT FINDINGS: The study of cognition and depression in mastocytosis is in its infancy and the methodological flaws of the current literature limit interpretability...
January 31, 2024: Current Allergy and Asthma Reports
#40
JOURNAL ARTICLE
Manca Svetina, Julij Šelb, Jonathan J Lyons, Peter Korošec, Matija Rijavec
Hereditary α tryptasemia (HαT) is an autosomal dominant trait characterized by increased TPSAB1 copy number (CN) encoding α-tryptase. The determination of HαT is being discussed as an important biomarker to be included in risk assessment models and future diagnostic algorithms for patients with mastocytosis and anaphylaxis. Due to the complex genetic structure at the human tryptase locus, genetic testing for tryptase gene composition is presently notably limited and infrequently pursued...
January 29, 2024: Scientific Reports
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