Výsledky vyhledávání - "atypical onset"

Akademický článek

Celiac disease - a pluripathological model in pediatric practice

Autor: Vasile Valeriu Lupu, Maria Oana Sasaran, Elena Jechel, Iuliana Magdalena Starcea, Ileana Ioniuc, Adriana Mocanu, Solange Tamara Rosu, Valentin Munteanu, Alin Horatiu Nedelcu, Ciprian Danielescu, Delia Lidia Salaru, Anton Knieling, Ancuta Lupu

Publikováno v: Frontiers in Immunology, Vol 15 (2024)

Being defined as an autoimmune, chronic pathology, frequently encountered in any age group, but especially in pediatrics, celiac disease (also called gluten enteropathy), is gaining more and more ground in terms of diagnosis, but also interest in res

Externí odkaz: https://doaj.org/article/d54f018aae1b4db289b58661066b666e

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Akademický článek

Case report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age

Autor: Jacopo Taurino, Emanuele Micaglio, Annalisa Russo Raucci, Monica Zanussi, Massimo Chessa, Nathasha Samali Udugampolage, Paola Carrera, Carlo Pappone, Alessandro Pini

Publikováno v: Frontiers in Cardiovascular Medicine, Vol 10 (2023)

Vascular Ehlers-Danlos syndrome (vEDS) is a genetic disease caused by a pathogenic mutation in the COL3A1 gene. Despite its severe course, the rarity and extreme clinical variability of the disease can pose significant obstacles to a timely diagnosis

Externí odkaz: https://doaj.org/article/0499b8e8fb24455795629233378b49f3

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Akademický článek

Bilateral Ocular Exophthalmia – A Case of Atypical Acute Myeloblastic Leukemia in a Child

Autor: Toth Réka, Grama Alina, Maki Cristina, Chinceșan Mihaela Ioana

Publikováno v: The Journal of Critical Care Medicine, Vol 6, Iss 4, Pp 243-248 (2020)

In acute myeloblastic leukaemia (AML) explosive proliferation and accumulation of immature myeloid cell clones take place, replacing the bone marrow, with the possibility of the formation of extramedullary tumour masses composed of myeloid cells. The

Externí odkaz: https://doaj.org/article/30b6460417c0471387618a4f74508947

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Akademický článek

MuSK-Associated Myasthenia Gravis: Clinical Features and Management

Autor: Carmelo Rodolico, Carmen Bonanno, Antonio Toscano, Giuseppe Vita

Publikováno v: Frontiers in Neurology, Vol 11 (2020)

Muscle-specific tyrosine kinase (MuSK) myasthenia gravis (MG) is a rare, frequently more severe, subtype of MG with different pathogenesis, and peculiar clinical features. The prevalence varies among countries and ethnic groups, affecting 5–8% of a

Externí odkaz: https://doaj.org/article/45ea750c42ee4c12b01382e40e000b2a

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Akademický článek

Novel Compound Heterozygous Mutations in IL-7 Receptor α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment

Autor: Paola Zangari, Cristina Cifaldi, Silvia Di Cesare, Gigliola Di Matteo, Maria Chiriaco, Donato Amodio, Nicola Cotugno, Maia De Luca, Cecilia Surace, Saverio Ladogana, Simone Gardini, Pietro Merli, Mattia Algeri, Paolo Rossi, Paolo Palma, Caterina Cancrini, Andrea Finocchi

Publikováno v: Frontiers in Immunology, Vol 10 (2019)

Patients with severe combined immunodeficiency (SCID) exhibit T lymphopenia and profound impairments in cellular and humoral immunity. IL-7 receptor α (IL-7Rα) deficiency is a rare form of SCID that usually presents in the first months of life with

Externí odkaz: https://doaj.org/article/4e7c1e51a2f849beadbb09f948307566

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Bilateral Ocular Exophthalmia – A Case of Atypical Acute Myeloblastic Leukemia in a Child

Autor: Cristina Maki, Alina Grama, Mihaela Ioana Chinceșan, Réka Toth

Publikováno v: The Journal of Critical Care Medicine, Vol 6, Iss 4, Pp 243-248 (2020)
The Journal of Critical Care Medicine

Introduction In acute myeloblastic leukaemia (AML) explosive proliferation and accumulation of immature myeloid cell clones take place, replacing the bone marrow, with the possibility of the formation of extramedullary tumour masses composed of myelo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a11f58c219f386aa910ff233690c05dc
https://doaj.org/article/30b6460417c0471387618a4f74508947

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Akademický článek

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Akademický článek

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MuSK-Associated Myasthenia Gravis: Clinical Features and Management

Autor: Antonio Toscano, Carmelo Rodolico, Carmen Bonanno, Giuseppe Vita

Publikováno v: Frontiers in Neurology, Vol 11 (2020)
Frontiers in Neurology

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf885808fd0f2a141384fa29dc38a08e
https://www.frontiersin.org/article/10.3389/fneur.2020.00660/full

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