Results 61 to 70 of about 894,811 (216)

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

Recurrent Pericarditis, an Unexpected Effect of Adjuvant Interferon Chemotherapy for Malignant Melanoma

Case Reports in Cardiology, 2016
Drug-induced pericarditis is a well-described cardiac pathology that can result from a variety of medications; however, interferon-mediated pericarditis is extremely rare.
Farhan Ashraf, Fady Marmoush, Muhammad Ismail Shafi, Ashish Shah   +3 more
doaj   +1 more source

Predictive factors of recurrence after pediatric acute pericarditis

Jornal de Pediatria, 2021
Objective: The predisposing factors for pericarditis recurrence in the pediatric population have not yet been established. This study aimed to define the risk factors for the unfavorable prognosis of pediatric acute pericarditis.
Stasa Krasic, Sergej Prijic, Sanja Ninic, Ruzica Borovic, Gordana Petrovic, Mila Stajevic, Dejan Nesic, Ivan Dizdarevic, Nemanja Djordjevic, Vladislav Vukomanovic   +9 more
doaj   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

A Rare Complication of End-stage Renal Disease: Constrictive Pericarditis

Çocuk Dergisi, 2022
End-stage renal disease (ESRD) is a devastating disease associated with cardiovascular morbidity. The prevalence of pericardial syndromes associated with ESRD is increasing because the survival of chronic renal failure (CRF) patients is prolonged ...
Cansu Ceren Eryılmaz, Emine Özlem Çam Delebe, Damla Akbulut, Zeynep Nagehan Yürük Yıldırım, Bağdagül Yavaş Aksu, Alev Yılmaz, Kemal Nişli, Ahmet Nevzat Nayır   +7 more
doaj   +1 more source

A Multifaceted Interplay Among Hemophagocytosis, Interleukin‐18, and Type I Interferon Distinguishes Still Disease From Other Autoinflammatory Diseases

Arthritis &Rheumatology, EarlyView.
Objective The unknown pathophysiology and the lack of specific features for systemic juvenile idiopathic arthritis and adult‐onset Still disease (collectively known as Still disease; SD) delay diagnosis and appropriate treatment. The goal of this study was to identify features and mechanisms that distinguish SD from other systemic autoinflammatory ...
Yvonne M. Mueller, Charlotte Girard, Harmen J. G. van de Werken, Stefan J. Erkeland, Dwin G. B. Grashof, Laurie Vaillant, Renske J. H. den Dekker, Iris van Zuijen, Sharon Veenbergen, Fanny Coffin, Eric Bindels, Yvan Jamilloux, Katerina Laskari, Vassili Soumelis, Bruno Fautrel, Cem Gabay, Peter D. Katsikis   +16 more
wiley   +1 more source

Pericardial Diseases in Cardiovascular Medicine: Contemporary Diagnosis, Risk Stratification, Multimodality Imaging, and Targeted Anti-Inflammatory Therapy

Reviews in Cardiovascular Medicine
Pericardial diseases comprise a heterogeneous spectrum, ranging from self-limited acute pericarditis to recurrent inflammatory syndromes, large pericardial effusions, cardiac tamponade, and chronic constrictive pericarditis.
Bum Sung Kim, Ji-won Hwang
doaj   +1 more source

Treatment of Idiopathic Recurrent Pericarditis With Goflikicept: Phase II/III Study Results.

Journal of the American College of Cardiology, 2023
BACKGROUND Idiopathic recurrent pericarditis (IRP) is a rare autoinflammatory disease. Interleukin (IL)-1α and IL-1β are the pivotal cytokines in the pathophysiology of acute pericarditis and its recurrence.
V. Myachikova, A. Maslyanskiy, O. Moiseeva, Oksana Vinogradova, E. Gleykina, Y. Lavrovsky, A. Abbate, S. Grishin, A. Egorova, Margarita L. Schedrova, M. Samsonov   +10 more
semanticscholar   +1 more source

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

Arthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source