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Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.
Am J Hum Genet
August 2024
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. Electronic address:
The term "recurrent constellations of embryonic malformations" (RCEM) is used to describe a number of multiple malformation associations that affect three or more body structures. The causes of these disorders are currently unknown, and no diagnostic marker has been identified. Consequently, providing a definitive diagnosis in suspected individuals is challenging.
View Article and Find Full Text PDFCurrent Treatments for Generalized Pustular Psoriasis: A Narrative Summary of a Systematic Literature Search.
Dermatol Ther (Heidelb)
September 2024
St. John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Article Synopsis
- Generalized pustular psoriasis (GPP) is a rare and severe skin condition that leads to painful pustules and can drastically impact a patient's quality of life.
- Current treatment options are varied and include both approved and non-approved therapies, but there's no clear consensus on the best approach, with many studies lacking rigorous methodology.
- The interleukin-36R inhibitor spesolimab has shown promising results in controlled trials and is now approved for use in several countries, yet overall research quality remains low and inconsistent across studies.
The dualistic role of Lyn tyrosine kinase in immune cell signaling: implications for systemic lupus erythematosus.
Front Immunol
July 2024
Department of Immunology, School of Translational Medicine, Monash University, Melbourne, VIC, Australia.
Systemic lupus erythematosus (SLE, lupus) is a debilitating, multisystem autoimmune disease that can affect any organ in the body. The disease is characterized by circulating autoantibodies that accumulate in organs and tissues, which triggers an inflammatory response that can cause permanent damage leading to significant morbidity and mortality. Lyn, a member of the Src family of non-receptor protein tyrosine kinases, is highly implicated in SLE as remarkably both mice lacking Lyn or expressing a gain-of-function mutation in Lyn develop spontaneous lupus-like disease due to altered signaling in B lymphocytes and myeloid cells, suggesting its expression or activation state plays a critical role in maintaining tolerance.
View Article and Find Full Text PDF[Primary antibody deficiencies and respiratory manifestations in adults].
Zhonghua Jie He He Hu Xi Za Zhi
April 2024
Department of Respiratory and Critical Care Medicine, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology), Shenzhen Institute of Respiratory Diseases in Shenzhen People's Hospital, Shenzhen 518020, China.
Primary antibody deficiencies (PAD) are a group of congenital disorders caused by genetic defects that affect the development and function of the body's immune defence mechanisms. Patients with PAD may present with recurrent infections, lymphoproliferation, autoimmune diseases, autoinflammation, or malignancies. Respiratory system manifestations may include bronchiectasis, bronchial asthma, and interstitial lung disease, among others.
View Article and Find Full Text PDFA novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness.
ESC Heart Fail
June 2024
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Aims: Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease where polyglucosan accumulation leads to cardiomyopathy and skeletal muscle myopathy. Variants of RBCK1 is related with PGBM1. We present a newly discovered pathogenic RBCK1 variant resulting in dilated cardiomyopathy (DCM) and a comprehensive literature review.
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