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  1. AU="Magdalena Lange"
  2. AU="Riley, Julie"
  3. AU="Benherrif, Oussama"
  4. AU="Grau, A."
  5. AU=Tao Qiushan
  6. AU="Qin, Guole"
  7. AU="Reis, Jennifer"
  8. AU=Rothstein Eric S
  9. AU="Bruszel, Bella"
  10. AU="Edwin R. Chilvers"
  11. AU="Marco Heredia-R"
  12. AU="Barbora Chladkova"
  13. AU=Chen Yi-Ning
  14. AU="Dirce Maria Lobo Marchioni"
  15. AU="Martínez Fernández, Lidia"
  16. AU="Graham J. T"
  17. AU="Płońska-Gościniak, Edyta"
  18. AU="Shackira, A M"
  19. AU="Fukui, Mototaka"
  20. AU="Jones, Clare A"
  21. AU="Chen, Yonghua"
  22. AU=Das Nilay Kanti
  23. AU="Christine Brittsan"
  24. AU="Skinner, Henry"
  25. AU=Wang Wan-Ying
  26. AU="Ingrid Natalia Muñoz Quijano"
  27. AU="Xu, Jianrong"
  28. AU="Klutts, Abigail"
  29. AU="Corumlu, Ufuk"
  30. AU="Frank Dickmann"
  31. AU="Paz-Priel, Ido"
  32. AU=Budhraja Anshul

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  1. Artikel ; Online: Mastocytosis and Skin Cancer

    Agnieszka Kaszuba / Martyna Sławińska / Jakub Żółkiewicz / Michał Sobjanek / Roman J. Nowicki / Magdalena Lange

    International Journal of Molecular Sciences, Vol 24, Iss 9840, p

    The Current State of Knowledge

    2023  Band 9840

    Abstract: Mastocytosis is a heterogeneous group of diseases associated with excessive proliferation and accumulation of mast cells in different organs. Recent studies have demonstrated that patients suffering from mastocytosis face an increased risk of melanoma ... ...

    Abstract Mastocytosis is a heterogeneous group of diseases associated with excessive proliferation and accumulation of mast cells in different organs. Recent studies have demonstrated that patients suffering from mastocytosis face an increased risk of melanoma and non-melanoma skin cancer. The cause of this has not yet been clearly identified. In the literature, the potential influence of several factors has been suggested, including genetic background, the role of cytokines produced by mast cells, iatrogenic and hormonal factors. The article summarizes the current state of knowledge regarding the epidemiology, pathogenesis, diagnosis, and management of skin neoplasia in mastocytosis patients.
    Schlagwörter mastocytosis ; melanoma ; non-melanoma skin cancer ; pathogenesis ; diagnostics ; treatment ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Sprache Englisch
    Erscheinungsdatum 2023-06-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: Current Challenges in the Diagnosis of Pediatric Cutaneous Mastocytosis

    Hanna Ługowska-Umer / Justyna Czarny / Agnieszka Rydz / Roman J. Nowicki / Magdalena Lange

    Diagnostics, Vol 13, Iss 23, p

    2023  Band 3583

    Abstract: Pediatric mastocytosis is mostly a cutaneous disease classified as cutaneous mastocytosis (CM), which is characterized by mast cell (MCs) accumulation in the skin and the absence of extracutaneous involvement. Based on the morphology of skin lesions, CM ... ...

    Abstract Pediatric mastocytosis is mostly a cutaneous disease classified as cutaneous mastocytosis (CM), which is characterized by mast cell (MCs) accumulation in the skin and the absence of extracutaneous involvement. Based on the morphology of skin lesions, CM can be divided into three major forms: maculopapular CM (MPCM), diffuse CM (DCM) and mastocytoma of the skin. A positive Darier’s sign is pathognomonic for all forms of CM. MPCM is the most common form, presenting with red-brown macules or slightly raised papules. Mastocytoma is characterized by solitary or a maximum of three nodular or plaque lesions. DCM is a rare, severe form which presents as erythroderma, pachydermia and blistering in the infantile period of the disease. CM is associated with MC mediator-related symptoms, most commonly including pruritus, flushing, blistering, diarrhea and cramping. Anaphylactic shock occurs rarely, mainly in patients with extensive skin lesions and a significantly elevated serum tryptase level. Childhood-onset MPCM and mastocytoma are usually benign diseases, associated with a tendency for spontaneous regression, while DCM is associated with severe mediator-related symptoms, an increased risk of anaphylaxis and, in some cases, underlying systemic mastocytosis (SM). In contrast to adults, SM is a rare finding in children, most commonly presenting as indolent SM. However, advanced SM sporadically occurs.
    Schlagwörter cutaneous mastocytosis ; children ; tryptase ; KIT mutation ; diagnostics ; Medicine (General) ; R5-920
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2023-12-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Artikel ; Online: -2518A/G polymorphism of monocyte chemotactic protein 1 (MCP-1/CCL2) is associated with cutaneous mastocytosis

    Hanna Ługowska-Umer / Monika Zabłotna / Magdalena Lange / Marek Niedoszytko / Roman Nowicki / Boguslaw Nedoszytko

    Advances in Dermatology and Allergology, Vol 38, Iss 6, Pp 1039-

    2022  Band 1043

    Schlagwörter mcp-1 gene polymorphism ; systemic mastocytosis ; cutaneous mastocytosis ; Dermatology ; RL1-803 ; Internal medicine ; RC31-1245
    Sprache Englisch
    Erscheinungsdatum 2022-01-01T00:00:00Z
    Verlag Termedia Publishing House
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  4. Artikel ; Online: Dermoscopic Features of Different Forms of Cutaneous Mastocytosis

    Martyna Sławińska / Agnieszka Kaszuba / Magdalena Lange / Roman J. Nowicki / Michał Sobjanek / Enzo Errichetti

    Journal of Clinical Medicine, Vol 11, Iss 16, p

    A Systematic Review

    2022  Band 4649

    Abstract: The term mastocytosis refers to a heterogeneous group of disorders characterised by accumulation of clonal mast cells in different organs, most commonly in the skin. Little is known about the role of dermoscopy in the diagnostics of mastocytosis. To date, ...

    Abstract The term mastocytosis refers to a heterogeneous group of disorders characterised by accumulation of clonal mast cells in different organs, most commonly in the skin. Little is known about the role of dermoscopy in the diagnostics of mastocytosis. To date, no systematic review on the dermoscopic features of cutaneous mastocytosis has been performed. The aim of this study was to summarise the current knowledge in the field as well as to identify the knowledge gaps to show possible directions for further studies, based on a systematic search of PubMed, Scopus, and Web of Science databases and related references published before 3 January 2022. Dermoscopic features, type of dermoscope, polarisation mode, magnification, and number of cases were analysed. In total, 16 articles were included in this review (3 case series and 13 case reports), analysing 148 patients with different variants of cutaneous mastocytosis; all of the studies analysed had a low level of evidence (V). The main dermoscopic features of urticaria pigmentosa included brown structureless areas, brown lines arranged in a network, and linear vessels distributed in a reticular pattern, with this last finding also being typical of telangiectasia macularis eruptiva perstans. The presence of either circumscribed yellow structureless areas or diffuse yellowish background was a constant pattern of mastocytoma, while nodular, pseudoangiomatous xanthelasmoid, and plaque-type mastocytosis were typified by light-brown structureless areas and/or pigment network, though the first two variants also showed yellow/yellow-orange structureless areas. Finally, pigmented streaks of radial distribution surrounding hair follicles were described to be a pathognomonic dermoscopic feature of pseudoxanthomatous mastocytosis. Although this review shows that the various clinical forms of cutaneous mastocytosis may feature diagnostic dermoscopic clues, it also underlines the need for further investigation as several relevant data are missing, including evaluation of dermoscopic ...
    Schlagwörter dermoscopy ; dermatoscopy ; trichoscopy ; mastocytosis ; review ; Medicine ; R
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2022-08-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  5. Artikel ; Online: Mediator-Related Symptoms and Anaphylaxis in Children with Mastocytosis

    Knut Brockow / Katarzyna Plata-Nazar / Magdalena Lange / Bogusław Nedoszytko / Marek Niedoszytko / Peter Valent

    International Journal of Molecular Sciences, Vol 22, Iss 5, p

    2021  Band 2684

    Abstract: Mastocytosis is characterized by the pathological accumulation of mast cells (MC) in various organs. In these patients, MC may degranulate and thereby contribute to clinical symptoms, especially when a concomitant allergy is present. However, MC ... ...

    Abstract Mastocytosis is characterized by the pathological accumulation of mast cells (MC) in various organs. In these patients, MC may degranulate and thereby contribute to clinical symptoms, especially when a concomitant allergy is present. However, MC activation can not only be induced by high-affinity receptors for IgE, but also by anaphylatoxins, neuropeptides, IgG immune complexes, complement-components, drugs, products of bacteria or parasites, as well as physical factors such as heat, cold, vibration, stress, sun, or physical effort. Symptoms due to mediators released by activated MC may develop in adults suffering from systemic mastocytosis, but also evolve in children who usually have cutaneous mastocytosis (CM). Clinically, CM is otherwise characterized by typical brown, maculopapular skin lesions or mastocytoma associated with a positive Darier’s sign. Pruritus and flushing are common and blistering may also be recorded, especially in diffuse CM (DCM). Pediatric patients with mastocytosis may also have gastrointestinal, respiratory, and neurologic complaints. Although anaphylaxis is not a typical finding, pediatric patients with massive skin involvement and high tryptase levels have a relatively high risk to develop anaphylaxis. This paper reviews MC mediator-related symptoms and anaphylaxis in children with mastocytosis, with special emphasis on risk factors, triggers, and management.
    Schlagwörter mast cells ; mastocytosis ; mediator-related symptoms ; anaphylaxis ; children ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2021-03-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  6. Artikel ; Online: Assessing quality of life in patients with mastocytosis

    Natalia Spolak-Bobryk / Marek Niedoszytko / Ewa Jassem / Marta Chełmińska / Magdalena Lange / Mikołaj Majkowicz / Bogusław Nedoszytko / Judyta Borchet

    Advances in Dermatology and Allergology, Vol 38, Iss 6, Pp 1044-

    development of the disease-specific questionnaire

    2022  Band 1051

    Schlagwörter mastocytosis ; quality of life ; questionnaire ; Dermatology ; RL1-803 ; Internal medicine ; RC31-1245
    Sprache Englisch
    Erscheinungsdatum 2022-01-01T00:00:00Z
    Verlag Termedia Publishing House
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  7. Artikel ; Online: Cutaneous mastocytosis treatment

    Justyna Czarny / Magdalena Lange / Hanna Ługowska-Umer / Roman J. Nowicki

    Advances in Dermatology and Allergology, Vol 35, Iss 6, Pp 541-

    strategies, limitations and perspectives

    2018  Band 545

    Abstract: Mastocytosis is a rare myeloproliferative disease, characterized by excessive proliferation and accumulation of mast cells in the tissues. In cutaneous mastocytosis (CM), mast cells infiltration is limited to the skin, whereas in systemic mastocytosis ( ... ...

    Abstract Mastocytosis is a rare myeloproliferative disease, characterized by excessive proliferation and accumulation of mast cells in the tissues. In cutaneous mastocytosis (CM), mast cells infiltration is limited to the skin, whereas in systemic mastocytosis (SM) internal organs are involved. The first-line treatment in CM is antimediator therapy (mainly H1 and H2 antihistamines) and short-term topical corticosteroids. Phototherapy is the second-line therapy which may be considered when antihistamines do not produce the expected improvement. New therapeutic options include omalizumab and KIT-targeting agents. Although the disappearance of skin lesions has been reported as a result of cytoreductive therapies in SM, the use of potentially toxic drugs in CM is not recommended. In all adults with mastocytosis and in pediatric patients with severe CM, a persistently elevated serum tryptase level and anaphylaxis in medical history, equipping with epinephrine autoinjector for use in case of anaphylaxis is recommended.
    Schlagwörter mastocytosis ; treatment ; prophylaxis ; Dermatology ; RL1-803 ; Internal medicine ; RC31-1245
    Thema/Rubrik (Code) 610 ; 616
    Sprache Englisch
    Erscheinungsdatum 2018-08-01T00:00:00Z
    Verlag Termedia Publishing House
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  8. Artikel ; Online: Modulation of dermal equivalent of hypothalamuspituitary- adrenal axis in mastocytosis

    Jakub Antoniewicz / Bogusław Nedoszytko / Magdalena Lange / Justyna Wierzbicka / Magdalena Górska-Ponikowska / Marek Niedoszytko / Monika Zabłotna / Roman Nowicki / Michał A. Żmijewski

    Advances in Dermatology and Allergology, Vol 38, Iss 3, Pp 461-

    2021  Band 472

    Schlagwörter skin hypothalamic-pituitary-adrenal axis ; mastocytosis ; mast cells ; corticotrophin-releasing hormone ; adrenocorticotropic hormone ; corticotrophin-releasing hormone receptor ; Dermatology ; RL1-803 ; Internal medicine ; RC31-1245
    Sprache Englisch
    Erscheinungsdatum 2021-07-01T00:00:00Z
    Verlag Termedia Publishing House
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  9. Artikel ; Online: Genome-Wide DNA Methylation and Gene Expression in Patients with Indolent Systemic Mastocytosis

    Aleksandra Górska / Maria Urbanowicz / Łukasz Grochowalski / Michał Seweryn / Marta Sobalska-Kwapis / Tomasz Wojdacz / Magdalena Lange / Marta Gruchała-Niedoszytko / Justyna Jarczak / Dominik Strapagiel / Magdalena Górska-Ponikowska / Iwona Pelikant-Małecka / Leszek Kalinowski / Bogusław Nedoszytko / Danuta Gutowska-Owsiak / Marek Niedoszytko

    International Journal of Molecular Sciences, Vol 24, Iss 13910, p

    2023  Band 13910

    Abstract: Mastocytosis is a clinically heterogenous, usually acquired disease of the mast cells with a survival time that depends on the time of onset. It ranges from skin-limited to systemic disease, including indolent and more aggressive variants. The presence ... ...

    Abstract Mastocytosis is a clinically heterogenous, usually acquired disease of the mast cells with a survival time that depends on the time of onset. It ranges from skin-limited to systemic disease, including indolent and more aggressive variants. The presence of the oncogenic KIT p. D816V gene somatic mutation is a crucial element in the pathogenesis. However, further epigenetic regulation may also affect the expression of genes that are relevant to the pathology. Epigenetic alterations are responsible for regulating the expression of genes that do not modify the DNA sequence. In general, it is accepted that DNA methylation inhibits the binding of transcription factors, thereby down-regulating gene expression. However, so far, little is known about the epigenetic factors leading to the clinical onset of mastocytosis. Therefore, it is essential to identify possible epigenetic predictors, indicators of disease progression, and their link to the clinical picture to establish appropriate management and a therapeutic strategy. The aim of this study was to analyze genome-wide methylation profiles to identify differentially methylated regions (DMRs) in patients with mastocytosis compared to healthy individuals, as well as the genes located in those regulatory regions. Genome-wide DNA methylation profiling was performed in peripheral blood collected from 80 adult patients with indolent systemic mastocytosis (ISM), the most prevalent subvariant of mastocytosis, and 40 healthy adult volunteers. A total of 117 DNA samples met the criteria for the bisulfide conversion step and microarray analysis. Genome-wide DNA methylation analysis was performed using a MethylationEPIC BeadChip kit. Further analysis was focused on the genomic regions rather than individual CpG sites. Co-methylated regions (CMRs) were assigned via the CoMeBack method. To identify DMRs between the groups, a linear regression model with age as the covariate on CMRs was performed using Limma. Using the available data for cases only, an association analysis was ...
    Schlagwörter genome-wide DNA methylation ; epigenetics ; gene expression ; mastocytosis ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Thema/Rubrik (Code) 570
    Sprache Englisch
    Erscheinungsdatum 2023-09-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  10. Artikel ; Online: Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis

    Boguslaw Nedoszytko / Michel Arock / Jonathan J. Lyons / Guillaume Bachelot / Lawrence B. Schwartz / Andreas Reiter / Mohamad Jawhar / Juliana Schwaab / Magdalena Lange / Georg Greiner / Gregor Hoermann / Marek Niedoszytko / Dean D. Metcalfe / Peter Valent

    International Journal of Molecular Sciences, Vol 22, Iss 411, p

    2021  Band 411

    Abstract: Mastocytosis is a rare and complex disease characterized by expansion of clonal mast cells (MC) in skin and/or various internal organ systems. Involvement of internal organs leads to the diagnosis of systemic mastocytosis (SM). The WHO classification ... ...

    Abstract Mastocytosis is a rare and complex disease characterized by expansion of clonal mast cells (MC) in skin and/or various internal organ systems. Involvement of internal organs leads to the diagnosis of systemic mastocytosis (SM). The WHO classification divides SM into indolent SM, smoldering SM and advanced SM variants, including SM with an associated hematologic neoplasm, aggressive SM, and MC leukemia. Historically, genetic analysis of individuals with pure cutaneous mastocytosis (CM) and SM have focused primarily on cohort studies of inherited single nucleotide variants and acquired pathogenic variants. The most prevalent pathogenic variant (mutation) in patients with SM is KIT p.D816V, which is detectable in most adult patients. Other somatic mutations have also been identified—especially in advanced SM—in TET2 , SRSF2 , ASXL1 , RUNX1 , CBL and JAK2 , and shown to impact clinical and cellular phenotypes. Although only small patient cohorts have been analyzed, disease associations have also been identified in several germline variants within genes encoding certain cytokines or their receptors ( IL13 , IL6 , IL6R , IL31 , IL4R ) and toll-like receptors. More recently, an increased prevalence of hereditary alpha-tryptasemia (HαT) caused by increased TPSAB1 copy number encoding alpha-tryptase has been described in patients with SM. Whereas HαT is found in 3–6% of general Western populations, it is identified in up to 17% of patients with SM. In the current manuscript we review the prevalence, functional role and clinical impact of various germline and somatic genetic variants in patients with mastocytosis.
    Schlagwörter mast cells ; mast cell activation syndrome ; gene polymorphisms ; prognostication ; hereditary alpha-tryptasemia ; KIT variants ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2021-01-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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