Results 131 to 140 of about 9,354,751 (270)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2568-2574, November 2026.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Subacute parkinsonism associated with proteinuria, hematuria, and PR3-ANCA positivity: a diagnostic challenge

BMC Neurology
Background Secondary causes of parkinsonism, such as tumors and autoimmune conditions, are rare. Cases of parkinsonism owing to antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis of the central nervous system (CNS) or lymphoma are scarce ...
Akisato Nishigaki, Hidehiro Ishikawa, Asako Tamura, Keita Matsuura, Genshin Mouri, Akihide Nakamura, Kayo Tsujimoto, Hiroyuki Kajikawa, Yuichiro Ii, Hiroshi Imai, Masayuki Maeda, Isao Tawara, Akihiro Shindo   +12 more
doaj   +1 more source

Seronegative Propylthiouracil‐Induced Reversible Bilateral Sensory Neural Hearing Loss Without Systemic Vasculitis: A Case Report and Review of Literature

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT Propylthiouracil (PTU) is a thioamide drug used in the management of hyperthyroidism in selected clinical settings. While PTU is associated with well‐known adverse effects such as hepatotoxicity, agranulocytosis, and antineutrophil cytoplasmic antibody (ANCA)‐associated vasculitis, ototoxicity is an exceptionally rare complication.
Adane Alemayehu Abera, Genetu Dagnaw Alemayehu, Zelalem Tadesse Wondimu, Behaylu Tesfamaryam Hagos, Mequannet Tesfaw Addis, Mohammedsefa Arusi Dari   +5 more
wiley   +1 more source

ANCA-negative associated vasculitis initially presenting with pulmonary embolism

, 2014
Antineutrophil-cytoplasm antibodies (ANCA)-associated vasculitis are severe inflammatory pathologies that, although rare, may induce significant morbidity or death. Their impact on multiple organ systems implies an important variability in their clinical
Filleul, Olivier, Vanhaeverbeek, Michel, Madhoun, Philippe   +2 more
core   +1 more source

ANCA-associated vasculitis in childhood: recent advances [PDF]

, 2017
Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides are rare systemic diseases that usually occur in adulthood. They comprise granulomatosis with polyangiitis (GPA, Wegener’s), microscopic polyangiitis (MPA) and eosinophilic ...
Mariagrazia Catanoso, Marucci, Giulia, Monti S., Gianfreda, Davide, Marco Allinovi, Vaglio, Augusto, Alice Bonanni, Pasquale Esposito, Gregorini, Gina, Gregorini G., Giacomo Emmi, Bracaglia, Claudia, Allinovi M., Sinico R. A., Barbano, Giancarlo, Calatroni M., Gianfreda D., Claudia Bracaglia, Bozzolo, Enrica P., Catanoso M., Emmi, Giacomo, Bracaglia C., Emmi G., Gina Gregorini, Moroni, Gabriella, Pieruzzi F., Bonanni, Alice, Esposito P., Bonanni A., Pastore, Serena, Moroni G., Elena Oliva, Giancarlo Barbano, Monti, Sara, Giuseppe A. Ramirez, Oliva, Elena, Pastore S., Sara Monti, Marta Calatroni, Bodria, Monica, Esposito, Pasquale, Pieruzzi, Federico, Barbano G., Bozzolo E. P., Vaglio A., Giulia Marucci, Marucci G., Gabriella Moroni, Augusto Vaglio, Enrica P. Bozzolo, Ramirez G. A., Calatroni, Marta, Federico Pieruzzi, Ramirez, Giuseppe A., OLIVA, ERIKA, Monica Bodria, Davide Gianfreda, Sinico, Renato A., Catanoso, Mariagrazia, Renato A. Sinico, Allinovi, Marco, Serena Pastore, Gianfreda Davide, Esposito Pasquale, Allinovi Marco, Bozzolo Enrica P., Ramirez Giuseppe A., Pieruzzi Federico, Bracaglia Claudia, Gregorini Gina, Calatroni Marta, Bonanni Alice, Vaglio Augusto, Monti S, Emmi Giacomo, Marucci Giulia, Barbano Giancarlo, Moroni Gabriella, Catanoso Mariagrazia, Oliva Elena, Sinico Renato A., Bodria Monica, Pastore Serena   +82 more
core   +1 more source

Anticuerpos anticitoplasma del neutrófilo en la clasificación de las vasculitis sistémicas

Revista Cubana de Medicina, 2003
La detección de los anticuerpos anticitoplasma del neutrófilo (ANCA) constituye el diagnóstico inmunológico de las vasculitis sistémicas. Este trabajo estuvo dirigido a probar la utilidad clínica del método de inmunofluorescencia indirecta (IFI) sobre ...
Elena Kokuina, Milton Sánchez Basulto, Ana María Arias Prieto, Ana María Guerreiro Hernández   +3 more
doaj  

Tubulointerstitial Nephritis With Uveitis Syndrome: A Case Report and Review of Literature

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT TINU syndrome should be considered in any child presenting with unexplained renal dysfunction and uveitis. Early recognition and a multidisciplinary approach involving nephrology and ophthalmology are essential to prevent irreversible renal and ocular damage.
Abdulelah Alshaiban
wiley   +1 more source

Rapidly Progressing Interstitial Fibrosis and Glomerulonephritis due to Granulomatosis With Polyangiitis Presenting With Calf Pain

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT We describe a 51‐year‐old male presenting with bilateral calf pain and found to have rapidly progressing pulmonary‐renal syndrome due to GPA vasculitis, despite completing an empiric course of steroids for a gout flare. This case underscores the heterogeneous nature of GPA and the importance of early strong immunosuppressive therapy.
Lily Gupta (Allison), Yingxue Wang, Eugenia Chen   +2 more
wiley   +1 more source

Intensive therapeutic plasma exchange in life-threatening ANCA-associated vasculitis

Intensive therapeutic plasma exchange in life-threatening ANCA-associated ...
Giollo, Alessandro, Bertelle, Davide, Pollastri, Francesco, Fassio, Angelo, Bixio, Riccardo, Rossini, Maurizio   +5 more
core   +1 more source

Progress in pathogenesis and therapy of vasculitis syndrome [PDF]

, 2007
血管炎症候群においては，ANCAの発見によりその発症機序，病態が明らかにされつつある．感染症などを契機としてTNFαなどの炎症性サイトカインが誘導され，それによって細胞膜表面に露出した細胞質内顆粒構成成分に結合したANCAは血管内皮細胞とも結合し，溶解酵素および活性酸素を放出して傷害することが明らかになっている．ANCAの産生についても細菌菌体成分との分子相同性が関与している可能性が示唆されている．治療については，The European Vasculitis Study Group (EUVAS ...
折口, 智樹, 玉井, 慎美, 江口, 勝美, 一瀬, 邦弘, 中村, 英樹, 川上, 純   +5 more
core   +1 more source