Results 41 to 50 of about 41,376 (260)

Safety of Daprodustat for the Treatment of Chronic Kidney Disease Anemia: Final Analysis of a Multicenter Postmarketing Surveillance Study in Japan

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction This final analysis of a multicenter, prospective postmarketing surveillance study evaluated the safety of daprodustat in patients with chronic kidney disease anemia in routine clinical practice in Japan. Methods Patients who initiated daprodustat between September 2020 and July 2022 were registered.
Tadao Akizawa, Kyomi Kanaya, Kiyomi Aizawa, Masanori Onoki, Hirofumi Ozeki, Kazuko Suzuki, Ai Hayashi, Tomohiko Asamura   +7 more
wiley   +1 more source

Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification

Frontiers in Pediatrics, 2022
Hereditary systemic autoinflammatory diseases (SAIDs) are rare, often severe conditions characterised by mutations in the key regulators of innate immune responses.
Ovgu Kul Cinar, Ovgu Kul Cinar, Amber Putland, Karen Wynne, Despina Eleftheriou, Despina Eleftheriou, Despina Eleftheriou, Paul A. Brogan, Paul A. Brogan   +8 more
doaj   +1 more source

Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes

FEBS Open Bio, EarlyView.
Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard, Emma‐Jayne Proctor, Jiawa Wang, Nikolas P. Johnston, Andrew Hayes, Georgia McCorkell, Haibo Yu, Jai Tree, Mark R. Davies, Mark J. Walker, Ronald Sluyter, Stephan Brouwer, Martina L. Sanderson‐Smith   +12 more
wiley   +1 more source

PFAPA Syndrome: Clinical, Laboratory and Therapeutic Features in a Single-Centre Cohort

International Journal of General Medicine, 2022
Cecilia Lazea,1 Laura Damian,2 Romana Vulturar,3 Calin Lazar1 1Department Pediatrics I, University of Medicine and Pharmacy “Iuliu Hatieganu”, Cluj-Napoca, Romania; 2Department of Rheumatology, County Emergency Clinical Hospital Cluj-Napoca, Centre for ...
Lazea C, Damian L, Vulturar R, Lazar C
doaj  

A novel TNFRSF1A gene mutation in a patient with tumor necrosis factor receptor-associated periodic syndrome

Hematology/Oncology and Stem Cell Therapy, 2018
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a periodic fever syndrome inherited in an autosomal dominant fashion. It stems from mutations in the TNFRSF1A (accession number: NM_001065) gene expressing the receptor for tumor ...
Alireza Khabazi, Mahafarin Maralani, Sasan Andalib, Ebrahim Sakhinia   +3 more
doaj   +1 more source

The Clinical Chameleon of Autoinflammatory Diseases in Children

Cells, 2022
The very first line of defense in humans is innate immunity, serving as a critical strongpoint in the regulation of inflammation. Abnormalities of the innate immunity machinery make up a motley group of rare diseases, named ‘autoinflammatory’, which are ...
Eugenio Sangiorgi, Donato Rigante
doaj   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome persisting to adulthood – an example of a diagnostic and therapeutic challenge

Rheumatology, 2019
Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is the most common cause of periodic fever in childhood. Reports of adult patients are sparse.
Ewa Więsik-Szewczyk, Beata Wolska-Kuśnierz, Karina Jahnz-Różyk   +2 more
doaj   +1 more source

The effect of neutrophil-lymphocyte ratio and thrombocyte index on inflammation in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome

Indian Journal of Rheumatology, 2020
Background: The periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is the most common periodic fever syndrome in childhood. Its pathogenesis and etiology remain unknown.
Vildan Gungorer, Alaaddin Yorulmaz, Husamettin Vatansev, Sukru Arslan   +3 more
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source