scholarly journals Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches

2019 ◽  
Vol 20 (12) ◽  
pp. 2976 ◽  
Author(s):  
Peter Valent ◽  
Cem Akin ◽  
Karoline V. Gleixner ◽  
Wolfgang R. Sperr ◽  
Andreas Reiter ◽  
...  
Keyword(s):  
Mast Cell ◽  
Personalized Medicine ◽  
Current Knowledge ◽  
Systemic Mastocytosis ◽  
Daily Practice ◽  
World Health ◽  
Survival Times ◽  
Tryptase Level ◽  
Organ Systems ◽  
Health Organization

Mastocytosis is a hematopoietic neoplasm defined by abnormal expansion and focal accumulation of clonal tissue mast cells in various organ-systems. The disease exhibits a complex pathology and an equally complex clinical behavior. The classification of the World Health Organization (WHO) divides mastocytosis into cutaneous forms, systemic variants, and localized mast cell tumors. In >80% of patients with systemic mastocytosis (SM), a somatic point mutation in KIT at codon 816 is found. Whereas patients with indolent forms of the disease have a normal or near-normal life expectancy, patients with advanced mast cell neoplasms, including aggressive SM and mast cell leukemia, have a poor prognosis with short survival times. In a majority of these patients, multiple somatic mutations and/or an associated hematologic neoplasm, such as a myeloid leukemia, may be detected. Independent of the category of mastocytosis and the serum tryptase level, patients may suffer from mediator-related symptoms and/or osteopathy. Depending on the presence of co-morbidities, the symptomatology in such patients may be mild, severe or even life-threatening. Most relevant co-morbidities in such patients are IgE-dependent allergies, psychiatric, psychological or mental problems, and vitamin D deficiency. The diagnosis and management of mastocytosis is an emerging challenge in clinical practice and requires vast knowledge, a multidisciplinary approach, and personalized medicine procedures. In this article, the current knowledge about mastocytosis is reviewed with special emphasis on the multidisciplinary aspects of the disease and related challenges in daily practice.

scholarly journals Cutaneous Mastocytosis in a 61-year-old Female from a Dermatological and Histopathological Perspective

2020 ◽  
pp. 01-06
Author(s):  
Erisa Kola ◽  
Jorida Memini ◽  
Ina Kola ◽  
Daniela Nakuci ◽  
John Ekladous ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Mast Cell ◽  
Mast Cells ◽  
Lymph Nodes ◽  
Systemic Mastocytosis ◽  
World Health ◽  
Systemic Involvement ◽  
Cutaneous Mastocytosis ◽  
Health Organization ◽  
Cell Disorder

First described by Nettleship et al. in 1869 [1], mastocytoses are a heterogeneous group of disorders characterized by the pathologic accumulation of mast cells in various tissues [2-5]. Mastocytosis can be confined to the skin as in cutaneous mastocytosis (CM), or it can involve extracutaneous tissues such as the liver, spleen, bone marrow and lymph nodes, as in systemic mastocytosis [6]. Mastocytosis is a World Health Organization-defined clonal mast cell disorder characterized by significant clinicopathologic heterogeneity [7]. Keywords: Cutaneous mastocytosis; Systemic mastocytosis; Systemic involvement; Mast cells; Mastocytosis.

Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors

Blood ◽  
2009 ◽  
Vol 113 (23) ◽  
pp. 5727-5736 ◽  
Author(s):  
Ken-Hong Lim ◽  
Ayalew Tefferi ◽  
Terra L. Lasho ◽  
Christy Finke ◽  
Mrinal Patnaik ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Mast Cell ◽  
Prognostic Factors ◽  
Systemic Mastocytosis ◽  
Multivariable Analysis ◽  
Cell Lineage ◽  
World Health ◽  
Additional Information ◽  
Survival Studies ◽  
Health Organization

Abstract Clinical phenotype in systemic mastocytosis (SM) is markedly variable, which complicates prognostication and decision making regarding the choice and timing of therapy. In a retrospective study of 342 consecutive adult patients with SM seen at the Mayo Clinic between 1976 and 2007, disease subdesignation according to the World Health Organization (WHO) proposal was indolent (ISM) in 159 (46%), with associated clonal hematologic non–mast cell lineage disease (SM-AHNMD) in 138 (40%), aggressive (ASM) in 41 (12%), and mast cell leukemia in 4 (1%). KITD816V was detected in bone marrow–derived DNA by allele-specific polymerase chain reaction (PCR) in 68% of 165 patients evaluated (ISM, 78%; ASM, 82%; SM-AHNMD, 60%; P = .03); JAK2V617F was detected in 4%, all in SM-AHNMD. Compared with those with nonindolent SM, life expectancy in ISM was superior and not significantly different from that of the age- and sex-matched US population. In addition, multivariable analysis identified advanced age, weight loss, anemia, thrombocytopenia, hypoalbuminemia, and excess bone marrow blasts as independent adverse prognostic factors for survival. The current study validates the prognostic relevance of the WHO subclassification of SM and provides additional information of value in terms of both risk stratification and interpretation of clinical presentation and laboratory results.

Systemic mastocytosis

2020 ◽  
pp. 168-190
Author(s):  
Jason Gotlib
Keyword(s):  
Mast Cell ◽  
Cell Biology ◽  
Systemic Mastocytosis ◽  
Dynamic Change ◽  
World Health ◽  
Large Numbers ◽  
Recent Developments ◽  
Health Organization ◽  
Collaborative Efforts ◽  
Diagnosis Classification

The study of systemic mastocytosis (SM) is undergoing dynamic change. Understanding of the biologic underpinnings of the disease, including its various World Health Organization-defined subtypes, is being catalysed by next generation sequencing in conjunction with sophisticated molecular biology tools which have allow refined analysis of mast cell immunophenotypes and intracellular signalling networks. In turn, this has provided translational opportunities for identifying new targets of therapy and biologic correlates of response, particularly in advanced forms of disease. Because SM is a rare and heterogeneous disease, collaborative efforts are being undertaken to aggregate data from large numbers of patients to better define the natural history and prognosis of its variants. This chapter aims to summarize the major features of mast cell biology, diagnosis, classification, and treatment, including a focus on more recent developments regarding the mutational landscape of SM and novel therapeutics.

scholarly journals Management of acute ischemic stroke in patients with COVID-19 infection: Report of an international panel

2020 ◽  
Vol 15 (5) ◽  
pp. 540-554 ◽  
Author(s):  
Adnan I Qureshi ◽  
Foad Abd-Allah ◽  
Fahmi Al-Senani ◽  
Emrah Aytac ◽  
Afshin Borhani-Haghighi ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Acute Ischemic Stroke ◽  
Current Knowledge ◽  
Intravenous Thrombolysis ◽  
Adult Patients ◽  
World Health ◽  
Stroke Patients ◽  
International Panel ◽  
Health Organization ◽  
Tract Infections

Background and purpose On 11 March 2020, World Health Organization (WHO) declared the COVID-19 infection a pandemic. The risk of ischemic stroke may be higher in patients with COVID-19 infection similar to those with other respiratory tract infections. We present a comprehensive set of practice implications in a single document for clinicians caring for adult patients with acute ischemic stroke with confirmed or suspected COVID-19 infection. Methods The practice implications were prepared after review of data to reach the consensus among stroke experts from 18 countries. The writers used systematic literature reviews, reference to previously published stroke guidelines, personal files, and expert opinion to summarize existing evidence, indicate gaps in current knowledge, and when appropriate, formulate practice implications. All members of the writing group had opportunities to comment in writing on the practice implications and approved the final version of this document. Results This document with consensus is divided into 18 sections. A total of 41 conclusions and practice implications have been developed. The document includes practice implications for evaluation of stroke patients with caution for stroke team members to avoid COVID-19 exposure, during clinical evaluation and performance of imaging and laboratory procedures with special considerations of intravenous thrombolysis and mechanical thrombectomy in stroke patients with suspected or confirmed COVID-19 infection. Conclusions These practice implications with consensus based on the currently available evidence aim to guide clinicians caring for adult patients with acute ischemic stroke who are suspected of, or confirmed, with COVID-19 infection. Under certain circumstances, however, only limited evidence is available to support these practice implications, suggesting an urgent need for establishing procedures for the management of stroke patients with suspected or confirmed COVID-19 infection.

scholarly journals A review of current knowledge of myeloproliferative disorders in the horse

2021 ◽  
Vol 63 (1) ◽  
Author(s):  
Katy Satué ◽  
Juan Carlos Gardon ◽  
Ana Muñoz
Keyword(s):  
Bone Marrow ◽  
Myeloid Leukemia ◽  
Current Knowledge ◽  
Myeloproliferative Neoplasms ◽  
Myeloproliferative Disorders ◽  
World Health ◽  
Chronic Granulocytic Leukemia ◽  
Current State ◽  
Multiple Cell ◽  
Health Organization

AbstractMyeloid disorders are conditions being characterized by abnormal proliferation and development of myeloid lineage including granulocytes (neutrophils, eosinophils and basophils), monocytes, erythroids, and megakaryocytes precursor cells. Myeloid leukemia, based on clinical presentation and proliferative rate of neoplastic cells, is divided into acute (AML) and myeloproliferative neoplasms (MPN). The most commonly myeloid leukemia reported in horses are AML-M4 (myelomonocytic) and AML-M5 (monocytic). Isolated cases of AML-M6B (acute erythroid leukemia), and chronic granulocytic leukemia have also been reported. Additionally, bone marrow disorders with dysplastic alterations and ineffective hematopoiesis affecting single or multiple cell lineages or myelodysplastic diseases (MDS), have also been reported in horses. MDSs have increased myeloblasts numbers in blood or bone marrow, although less than 20%, which is the minimum level required for diagnosis of AML. This review performed a detailed description of the current state of knowlegde of the myeloproliferative disorders in horses following the criteria established by the World Health Organization.

scholarly journals 405 - Music Therapy in the management of dementia

2020 ◽  
Vol 32 (S1) ◽  
pp. 121-121
Author(s):  
Catarina Pedro ◽  
Beatriz Jorge ◽  
Mariana Duarte
Keyword(s):  
Cognitive Function ◽  
Music Therapy ◽  
Behavioral Problems ◽  
Positive Impact ◽  
Current Knowledge ◽  
Neuropsychiatric Symptoms ◽  
World Health ◽  
Psychotic Symptoms ◽  
The World ◽  
Health Organization

Introduction:Dementia has become a worldwide concern. According to the World Health Organization, there are 50 million individuals suffering from dementia across the world and approximately 20 million new cases are diagnosed each year. The efficacy of medications in controlling agitation and psychotic symptoms is modest and may cause serious adverse effects, outlining the urge for new treatment methods for patients with dementia. Music therapy (MT) is a nonpharmacologic strategy that is used in patients with early-to-late stages of dementia with promising results.Objectives:The aim of this presentation is to evaluate the benefits of music therapy in cognitive functioning and neuropsychiatric symptoms in patients diagnosed with dementia. We also summarize the current knowledge about this topic.Methods:A non-systematic review of the literature was performed on PubMed, PsycINFO and Web of science using selected keywords.Results:MT sustains its benefit because musical memory regions in the brain are relatively spared compared to cognitive function. “Musical memories” can, thus, be stored longer than non-musical memories, allowing to recall associated life events and emotions. Systematic reviews suggest that MT seem to have a positive effect on symptoms such as depression, anxiety and behavioral problems while the findings concerning agitation/aggression are inconsistent. No large differences were found between studies using live or recorded music although the latter reported more of a consistently positive impact on behavioral and psychological outcomes. The studies using live music, however, reported specific benefits to relationships and interactions.Conclusions:The majority of the studies have methodological limitations, making it difficult to offer firm conclusions. Despite this, there were positive results on aspects of quality of life, cognitive function, behavioral, psychological, physiological and communication outcomes.

scholarly journals The Wnt Signalling Pathway: A Tailored Target in Cancer

2020 ◽  
Vol 21 (20) ◽  
pp. 7697 ◽  
Author(s):  
Malvina Koni ◽  
Veronica Pinnarò ◽  
Maria Felice Brizzi
Keyword(s):  
Animal Species ◽  
Current Knowledge ◽  
Integration Site ◽  
World Health ◽  
Cancer Driver ◽  
Common Cancer ◽  
Public Health Challenges ◽  
Health Organization ◽  
Canonical Wnt ◽  
The Impact

Cancer is one of the greatest public health challenges. According to the World Health Organization (WHO), 9.6 million cancer deaths have been reported in 2018. The most common cancers include lung, breast, colorectal, prostate, skin (non-melanoma) and stomach cancer. The unbalance of physiological signalling pathways due to the acquisition of mutations in tumour cells is considered the most common cancer driver. The Wingless-related integration site (Wnt)/β-catenin pathway is crucial for tissue development and homeostasis in all animal species and its dysregulation is one of the most relevant events linked to cancer development and dissemination. The canonical and the non-canonical Wnt/β-catenin pathways are known to control both physiological and pathological processes, including cancer. Herein, the impact of the Wnt/β-catenin cascade in driving cancers from different origin has been examined. Finally, based on the impact of Extracellular Vesicles (EVs) on tumour growth, invasion and chemoresistance, and their role as tumour diagnostic and prognostic tools, an overview of the current knowledge linking EVs to the Wnt/β-catenin pathway is also discussed.

scholarly journals Unpuzzling COVID-19: tissue-related signaling pathways associated with SARS-CoV-2 infection and transmission

2020 ◽  
Vol 134 (16) ◽  
pp. 2137-2160 ◽  
Author(s):  
Daniella S. Battagello ◽  
Guilherme Dragunas ◽  
Marianne O. Klein ◽  
Ana L.P. Ayub ◽  
Fernando J. Velloso ◽  
...  
Keyword(s):  
Signaling Pathways ◽  
Clinical Impact ◽  
World Health ◽  
Current Evidence ◽  
Cellular Interaction ◽  
Crucial Importance ◽  
Future Perspectives ◽  
Organ Systems ◽  
Health Organization ◽  
The City

Abstract The highly infective coronavirus disease 19 (COVID-19) is caused by a novel strain of coronaviruses – the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) – discovered in December 2019 in the city of Wuhan (Hubei Province, China). Remarkably, COVID-19 has rapidly spread across all continents and turned into a public health emergency, which was ultimately declared as a pandemic by the World Health Organization (WHO) in early 2020. SARS-CoV-2 presents similar aspects to other members of the coronavirus family, mainly regarding its genome, protein structure and intracellular mechanisms, that may translate into mild (or even asymptomatic) to severe infectious conditions. Although the mechanistic features underlying the COVID-19 progression have not been fully clarified, current evidence have suggested that SARS-CoV-2 may primarily behave as other β-coronavirus members. To better understand the development and transmission of COVID-19, unveiling the signaling pathways that may be impacted by SARS-CoV-2 infection, at the molecular and cellular levels, is of crucial importance. In this review, we present the main aspects related to the origin, classification, etiology and clinical impact of SARS-CoV-2. Specifically, here we describe the potential mechanisms of cellular interaction and signaling pathways, elicited by functional receptors, in major targeted tissues/organs from the respiratory, gastrointestinal (GI), cardiovascular, renal, and nervous systems. Furthermore, the potential involvement of these signaling pathways in evoking the onset and progression of COVID-19 symptoms in these organ systems are presently discussed. A brief description of future perspectives related to potential COVID-19 treatments is also highlighted.

Practical Implications of the 2016 Revision of the World Health Organization Classification of Lymphoid and Myeloid Neoplasms and Acute Leukemia

2017 ◽  
Vol 35 (23) ◽  
pp. 2708-2715 ◽  
Author(s):  
John P. Leonard ◽  
Peter Martin ◽  
Gail J. Roboz
Keyword(s):  
Acute Leukemia ◽  
Clinical Trial Design ◽  
Daily Practice ◽  
World Health ◽  
Myeloid Neoplasms ◽  
New Information ◽  
Health Organization ◽  
Key Aspects ◽  
Practical Implications

A major revision of the WHO classification of lymphoid and myeloid neoplasms and acute leukemia was released in 2016. A key motivation for this update was to include new information available since the 2008 version with clinical relevance for the diagnosis, prognosis, and therapy of patients. With > 100 entities described, it is important for the clinician to understand features that may be important in daily practice, whereas researchers need to incorporate the new classification scheme into study development and analysis. In this review, we highlight the key aspects of the 2016 update with particular importance to routine patient care and clinical trial design.

scholarly journals SARS-CoV-2/Renin–Angiotensin System: Deciphering the Clues for a Couple with Potentially Harmful Effects on Skeletal Muscle

2020 ◽  
Vol 21 (21) ◽  
pp. 7904
Author(s):  
Andrea Gonzalez ◽  
Josué Orozco-Aguilar ◽  
Oscar Achiardi ◽  
Felipe Simon ◽  
Claudio Cabello-Verrugio
Keyword(s):  
Skeletal Muscle ◽  
Muscle Mass ◽  
Renin Angiotensin System ◽  
Recovery Process ◽  
World Health ◽  
Angiotensin System ◽  
Renin Angiotensin ◽  
Organ Systems ◽  
Health Organization ◽  
And Function

Severe acute respiratory syndrome coronavirus (SARS-CoV-2) has produced significant health emergencies worldwide, resulting in the declaration by the World Health Organization of the coronavirus disease 2019 (COVID-19) pandemic. Acute respiratory syndrome seems to be the most common manifestation of COVID-19. A high proportion of patients require intensive care unit admission and mechanical ventilation (MV) to survive. It has been well established that angiotensin-converting enzyme type 2 (ACE2) is the primary cellular receptor for SARS-CoV-2. ACE2 belongs to the renin–angiotensin system (RAS), composed of several peptides, such as angiotensin II (Ang II) and angiotensin (1-7) (Ang-(1-7)). Both peptides regulate muscle mass and function. It has been described that SARS-CoV-2 infection, by direct and indirect mechanisms, affects a broad range of organ systems. In the skeletal muscle, through unbalanced RAS activity, SARS-CoV-2 could induce severe consequences such as loss of muscle mass, strength, and physical function, which will delay and interfere with the recovery process of patients with COVID-19. This article discusses the relationship between RAS, SARS-CoV-2, skeletal muscle, and the potentially harmful consequences for skeletal muscle in patients currently infected with and recovering from COVID-19.

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