Results 91 to 100 of about 160,652 (313)

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

Renal vasculitis in Colombia

, 2010
Las vasculitis se caracterizan por la inflamación de las paredes vasculares y el riñón puede estar afectado de varias formas. La información epidemiológica en Colombia de la vasculitis renal es escasa.
Ramirez Rubio , Fabian Alberto
core  

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

ANCA-Associated Vasculitis—ENT Involvement

, 2019
Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) are idiopathic, immunologically mediated diseases predominantly affecting small vessels throughout the body (capillaries, venules arterioles, and small arteries), which are ...
Roberto Teggi, Trimarchi Matteo, Galli Andrea, Teggi Roberto   +3 more
core   +1 more source

[Cerebral vasculitis]

, 2008
Cerebral vasculitis is a rare disease with a potentially harmful or even fatal outcome that often affects young adults. Primary autoimmune mediated disease can be distinguished from secondary vasculitis associated to infectious disorders, connective ...
Lienert, Carmen, Sturzenegger, Matthias
core  

IgG4-related disease and systemic vasculitis – is there any connection?

, 2014
IgG4-related disease is a relatively new group of diseases of still unknown etiology. It is characterized by elevated serum levels of subclass IgG4 immunoglobulin and by abundant infiltration of IgG4+ plasma cells with typical fibrosis of the affected ...
Anna Masiak, Zbigniew Zdrojewski
core   +1 more source

Duck Orbivirus and Egg Production: A Newly Identified Duck Orbivirus Is the Etiological Agent of Egg Production Decline in Chinese Breeder Ducks

Animal Research and One Health, EarlyView.
Field samples from breeder duck farms with egg‐production decline were subjected to viral detection, genome sequencing, and virus isolation. Experimental infection demonstrated that duck orbivirus (DORV) causes a significant and persistent reduction in egg production in breeder ducks.
Bing Li, Jianhua Wang, Xuezhi Cui, Xinxing Chu, You Wang, Dongmin Hao, Mingqing Xu, Haixia Chang, Huihui Li, Mingtian Mao, Mian Wu, Chengguang Lu, Jing Tang, Suyun Liang, Zhanbao Guo, Zhengkui Zhou, Youxiang Diao, Shuisheng Hou, Yi Tang   +18 more
wiley   +1 more source

Immune Thrombotic Thrombocytopenic Purpura in a Patient with Suspected COVID-19: Hydroxychloroquine Culprit or Just Happenstance?

Turkish Journal of Hematology, 2021
Tajamul H. Mir
doaj   +1 more source

Vasculitis in Children

Vasculitis in children represents a diverse group of diseases characterized by inflammation of blood vessels, which can lead to significant morbidity if not promptly recognized and managed.
Özge Başaran, Yağmur Bayındır, Yelda Bilginer, Seza Özen   +3 more
core   +1 more source

Management of ANCA-associated vasculitis: Current trends and future prospects [PDF]

, 2010
Sally Hamour, Alan D Salama, Charles D PuseyImperial College Kidney and Transplant Institute, Imperial College, London, UKAbstract: The antineutrophil cytoplasm antibody (ANCA)-associated vasculitides are a spectrum of heterogeneous autoimmune diseases ...
Hamour, S, Alan D Salama, Pusey, CD, Sally Hamour, Salama, AD, Charles D Pusey   +5 more
core   +1 more source