Results 71 to 80 of about 1,171,277 (292)

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

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Advances in Diagnosis and Treatments for Immune Thrombocytopenia

, 2016
Immune thrombocytopenia (ITP) is an acquired hemorrhagic condition characterized by the accelerated clearance of platelets caused by antiplatelet autoantibodies. A platelet count in peripheral blood
Shosaku Nomura
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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

Ovarian teratoma: yet another cause of immune thrombocytopenia

, 2018
Dalia Khalife,1 Joseph Nassif,1 Ali Khalil,1 Ghina Ghazeeri,1 Ali Taher2 1Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon; 2Department of Internal Medicine, American University of Beirut Medical ...
Nassif J, Khalife D, Taher A, Khalil A, Ghazeeri G   +4 more
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Primary immune-mediated thrombocytopenia in a cat

, 1999
A young female Somali cat was referred for investigation of chronic intermittent haematuria. Petechiae were found on the ears and ventral abdomen and further investigation revealed severe thrombocytopenia and megakaryocyte hyperplasia.
Tasker, S, Day, MJ, S. Tasker, A. J. Mackin, Mackin, AJ, M. J. Day   +5 more
core   +1 more source

Signal detection of immune thrombocytopenia associated with immune checkpoint inhibitors

Scientific Reports
Immune checkpoint inhibitors (ICIs) have become an important treatment modality for various malignancies. Due to excessive inflammatory and immune responses, immune-related adverse events (irAEs), such as rash, pruritis, pneumonitis, hepatitis ...
Diwei Mo, Xia Yang, Guifeng Xu, Xiaoyue Zhang, Keng Wang, Luwen Lei, Xingxi Pan   +6 more
doaj   +1 more source

The Centenary of Immune Thrombocytopenia—Part 2: Revising Diagnostic and Therapeutic Approach

Frontiers in Pediatrics, 2017
Primary immune thrombocytopenia (ITP) is the most common cause of thrombocytopenia in children and adolescents and can be considered as a paradigmatic model of autoimmune disease. This second part of our review describes the clinical presentation of ITP,
Rita Consolini, Giorgio Costagliola, Davide Spatafora   +2 more
doaj   +1 more source

Immune thrombocytopenia: improving quality of life and patient outcomes

, 2018
Patrick Trotter,1,2 Quentin A Hill3 1Department of Surgery, University of Cambridge, Cambridge, UK; 2National Health Service Blood and Transplant, Organ Donation and Transplant Directorate, Bristol, UK; 3Department of Haematology, St James’s ...
Trotter P, Hill QA
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Laboratory analyses for evaluation of platelet disorders and platelet concentrates [PDF]

, 2006
High quality of platelet analytics requires specialized knowledge and skills. It was applied to analyze platelet activation and aggregation responses in a prospective controlled study of patients with Finnish type of amyloidosis.
Javela, Kaija
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