Results 251 to 260 of about 414,209 (326)

Effect of early initation of Eculizumab in patients with aHUS on renal outcomes: a pooled analysis [PDF]

open access: yes, 2016
Ardissimo, Gianluigi   +5 more
core  

Percutaneous Closure of Perivalvular Leakage After Aortic Valve Replacement Using Preoperative 3D Printing Technology Guidance: A Case Report

open access: yesClinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT We report a case of transcatheter paravalvular leak (PVL) closure assisted by three‐dimensional (3D) printing and intracardiac echocardiography (ICE) in a patient with complex valvular history. A 70‐year‐old male manifested acute exacerbation of dyspnea, accompanied by orthopnea and nocturnal paroxysmal respiratory distress.
Zewei Xu   +4 more
wiley   +1 more source

Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report

open access: yesClinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic variant in the KRT10 gene (c.467G>A, p.Arg156His).
Elke Smits   +4 more
wiley   +1 more source

Complement Dysregulation in Infancy: A Case of CD59 Deficiency With Neurological Sequelae. [PDF]

open access: yesCureus
Busaleh F   +9 more
europepmc   +1 more source

Confirmation of Fixed Quarterly Riliprubart Regimen in Patients with Cold Agglutinin Disease Using Population PK/PD and Exposure‐Response Analyses

open access: yesClinical Pharmacology &Therapeutics, Volume 118, Issue 2, Page 449-458, August 2025.
Riliprubart is a second‐generation, humanized immunoglobulin G4 that inhibits only the activated form of the C1s component of the proximal classical complement pathway. The clinical studies of riliprubart conducted thus far for the treatment of cold agglutinin disease (CAD), a rare autoimmune disease, include a Phase 1 first‐in‐human study in healthy ...
Timothy Chow   +3 more
wiley   +1 more source

Patients with symptoms of haemolytic anaemia and thrombocytopenia revealed by genetic testing as sitosterolemia

open access: yesClinical and Translational Discovery, Volume 5, Issue 4, August 2025.
For patients with unexplained haemolytic anaemia, thrombocytopenia, especially with stomatocytes present in peripheral blood, the diagnosis of sitosterolemia should be considered, and genetic testing is strongly recommended . Abstract Background Sitosterolemia is a rare, inherited, autosomal recessive disorder of lipid metabolism.
Mengjia Qian   +9 more
wiley   +1 more source

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