Results 71 to 80 of about 2,158,008 (249)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son, Inyoung Hwang, Sang Won Lee, Yun Kim   +3 more
wiley   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Personalised indication of augmentation therapy for emphysema associated with severe alpha-1 antitrypsin deficiency: a case series

Therapeutic Advances in Respiratory Disease
Severe alpha-1 antitrypsin deficiency (AATD) is associated with an increased risk of emphysema. However, the clinical manifestations are very heterogeneous, and an individual prognosis is very difficult to establish. Intravenous augmentation therapy with
Cristina Aljama, Teresa Martin, Galo Granados, Marc Miravitlles, Miriam Barrecheguren   +4 more
doaj   +1 more source

Self-administration of augmentation therapy for alpha 1-antitrypsin deficiency [PDF]

IJTLD Open
Self-administration of augmentation therapy for alpha 1-antitrypsin ...
A. Vianello, S. Lococo, L. Corda, M. Torrazza, G. Zuccarini, P. Baderna, F. Cinetto, E. Bargagli, P. Confalonieri, S. Sanduzzi Zamparelli, L. Bertagna De Marchi, B. Molena, F. Lionello, M. Caminati, G. Guarnieri   +14 more
doaj   +2 more sources

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

Healthcare Costs For Patients With Severe Alpha-1 Antitrypsin Deficiency Among Augmentation Therapy Users And Non-Users And Impact Of Therapy Frequency [PDF]

, 2023
Background: Alpha-1 antitrypsin deficiency (AATD) is a rare disease caused by a genetic mutation in the SERPINA1 gene which causes low levels of or no working alpha-1 antitrypsin protein to be made.
Raina, Nikita
core   +1 more source

Défice de alfa -1 antitripsina. A experiência do Hospital de Pulido Valente com a terapêutica de reposição Alpha -1 antitrypsin deficiency. The experience of Pulido Valente Hospital with augmentation therapy

Revista Portuguesa de Pneumologia, 2009
A alfa -1 antitripsina (AAT) e sintetizada pelo fígado, com uma semivida plasmática de 4 -5 dias. Apresenta acção inibidora das proteases, com particular afinidade para a elastase dos neutrófilos.
Carla Alves Costa, Cristina Santos
doaj  

Journal of Proton Therapy: Call for Papers

, 2015
Journal of Proton Therapy (JPT) is an international open access, peer-reviewed journal, which publishes original research, technical reports, reviews, case reports, editorials, and other materials on proton therapy with focus on radiation oncology ...
Proton Therapy, Journal of
core  

Facial Cosmetic Therapy Use Among Patients With Systemic Sclerosis: An Australian Cohort Study

Arthritis Care &Research, EarlyView.
Objective Systemic sclerosis (SSc) is associated with numerous facial manifestations for which patients may engage in cosmetic therapies. It is unclear how patients with SSc use these therapies. This study sought to characterize patient engagement and experiences with cosmetic therapies for SSc‐related and non‐SSc–related facial changes.
Zachary Warren, Diane Apostolopoulos, Gene‐Siew Ngian, Amanda M. Saracino, Laura Ross, Nava Ferdowsi, Jennifer Walker, Cindy Hall, Kim Griggs, Susanna Proudman, Wendy Stevens, Joanne Sahhar   +11 more
wiley   +1 more source