Results 51 to 60 of about 17,480 (219)

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, EarlyView.
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

The genetics of Takayasu arteritis [PDF]

La Presse Médicale, 2017
Takayasu arteritis (TAK) is a rare systemic vasculitis that is characterized by granulomatous inflammation of the aorta and its major branches. The cellular and biochemical processes involved in the pathogenesis of TAK are beginning to be elucidated, and implicate both cell and antibody-mediated autoimmune mechanisms.
Paul, Renauer, Amr H, Sawalha
openaire   +2 more sources

Arterite de takayasu: uma série de casos [PDF]

, 2008
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Nunes, Guilherme Henrique Lopes
core  

Management of Spontaneous Crystalline Lens Luxation in a Patient Diagnosed with Takayasu’s Disease

Diagnostics, 2023
Takayasu’s disease is a chronic granulomatous arteriopathy that affects large vessels and their major branches. Nonspecific symptoms characterize the early phase, whereas findings of arterial occlusion and aneurysmal formation become manifest later ...
Elvia Mastrogiuseppe, Maria Pia Pirraglia, Lorenzo Sampalmieri, Ludovico Iannetti, Alessandro Beccia, Magda Gharbiya   +5 more
doaj   +1 more source

Effective Performance of the 2022 American College of Rheumatology/EULAR Classification Criteria for Antineutrophil Cytoplasmic Antibody–Associated Vasculitis in Pediatric Patients: An ARChiVe Study

Arthritis &Rheumatology, EarlyView.
Objective To assess the 2022 American College of Rheumatology (ACR)/EULAR classification criteria for antineutrophil cytoplasmic antibody–associated vasculitis (AAV) in children with chronic small‐to‐medium vessel vasculitis. Methods A cohort of 574 patients, identified by physician's diagnosis (MD‐diagnosis) in A Registry of Childhood Vasculitis, was ...
David A. Cabral, Else S. Bosman, Nick McPhate, Simranpreet K. Mann, Kirandeep K. Toor, Kimberly A. Morishita, Raashid Luqmani, Michael W. Beresford, James Bistolarides, Sarah Campillo, Sirirat Charuvanij, Kathryn Cook, Paul Dancey, Marietta de Guzman, Samundeeswari Deepak, Barbara Eberhard, Melissa Elder, Samuel Gagne, Katie Harrison, Adam Huber, Archana Khan, Susan Kim, Marisa S. Klein‐Gitelman, Tzielan C. Lee, Suzanne C. Li, Neil Martin, Flora McErlane, L. Nandini Moorthy, Alvaro H. Orjuela, Jonathan Park, Phil Riley, Alan M. Rosenberg, Susan Shenoi, Vidya Sivaraman, Sodality Sutnga, Tamara Tanner, Stacey E. Tarvin, Marinka Twilt, Linda Wagner‐Weiner, Rae S. M. Yeung, Kelly L. Brown, for the ARChiVe Investigators Network within the PedVas Initiative   +41 more
wiley   +1 more source

Assessment of Patients with Takayasu Arteritis in Routine Practice with Indian Takayasu Clinical Activity Score

, 2015
Objective. To assess the Indian Takayasu Clinical Activity Score (ITAS2010) in followup of Takayasu arteritis (TA)
Kamali, Sevil, KİRAZ, SEDAT, Inanc, Murat, Akkoc, Nurullah, Ozer, Huseyin, DIRESKENELI, Haner, ALIBAZ-ONER, Fatma, Yucel, Eftal, Aydin, Sibel Z., Akar, Servet, Keser, Gokhan, DİRESKENELİ, RAFİ HANER, ALİBAZ ÖNER, FATMA, AKSU, KENAN, Onen, Fatos, KARADAĞ, ÖMER   +15 more
core   +1 more source

Age‐Associated B Cells Contribute to Inflammation Via Antibody‐Independent Mechanisms in Takayasu Arteritis

Arthritis &Rheumatology, EarlyView.
Objective Although Takayasu arteritis (TAK) is not a prototypical autoantibody‐mediated disease, accumulating evidence suggests that B cells are involved. This study aimed to investigate the pathway of B cell activation and its contributions to TAK pathogenesis. Methods Histologic analysis of paravascular lymph nodes and affected arteries was conducted
Chenglong Fang, Xiaoxi Yang, Xiaochuan Sun, Shangyi Jin, Lihong Du, Jinwei Gao, Jing Li, Zhen Chen, Yuexin Chen, Mengtao Li, Xinping Tian   +10 more
wiley   +1 more source

18F-FDG-PET/CT assessment of Takayasu arteritis and effect of time-of-flight reconstruction: an observational study [PDF]

, 2020
Background: To assess the impact of time-offlight (TOF) positron emission tomography (PET)/computed tomography (CT) image reconstruction on assessment of Takayasu arteritis (TKA). We reviewed 14 patients (15 cases) who underwent TOF-PET/CT.
YANAI, Shuichi, TATEISHI, Ukihide, TSUCHIYA, Junichi, TAURA, Shinichi   +3 more
core   +1 more source

Bronchiectasis and hoarseness of voice in takayasu arteritis: a rare presentation

BMC Research Notes, 2012
Background Takayasu arteritis is a large vessel vasculitis occurring in young females. We report a rare presentation of Takayasu arteritis in a Sri Lankan woman.
ND Perera Gamage, C Jayasinghe Anusha, D Dias Lalindra, Kulatunga Aruna   +3 more
doaj   +1 more source

Rare vasculitis types and obstetric and neonatal outcomes – A population‐based study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective Vasculitis is an infrequent pathology among reproductive‐aged women. While data exists regarding pregnancy outcomes in the more common vasculitis subtypes, data is limited regarding these outcomes in rare vasculitis subtypes. We aimed to compare pregnancy and perinatal outcomes between women who suffered from rare types of vasculitis
Uri Amikam, Ahmad Badeghiesh, Haitham Baghlaf, Richard Brown, Michael H. Dahan   +4 more
wiley   +1 more source