RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova +3 more
wiley +1 more source
Transient shortening of activated partial thromboplastin time and prothrombin time associated with transient global amnesia. [PDF]
Dziubek D, Dziubek K, Stodolak M.
europepmc +1 more source
Effect of the reaction temperature on the prothrombin time and the apparent International Normalized Ratio determined with International Standards for thromboplastins. [PDF]
Van Den Besselaar AMHP, Cobbaert CM.
europepmc +1 more source
Factors Predicting Prolongation of the Prothrombin Time after Liver Donor Hepatectomy [PDF]
In Young Huh +6 more
openalex +1 more source
Summary Two foals were being treated with a combination of oral doxycycline and rifampin for presumed Rhodococcus equi infections. After 3–4 weeks of antimicrobial administration, both foals presented with icterus and nonspecific clinical signs, including lethargy and inappetence.
A. Murdock +7 more
wiley +1 more source
Effect of carbamazepine and levetiracetam on coagulation parameters: Prothrombin time, activated partial thromboplastin time, D-dimer, and fibrinogen levels. [PDF]
Li J, Zhong C, Bian G.
europepmc +1 more source
A National Field Study of Quality Assessment of CoaguChek Point-of-Care Testing Prothrombin Time Monitors [PDF]
Piet Meijer +8 more
openalex +1 more source
Temporohyoid osteoarthropathy presenting as unilateral epistaxis in a mare
Summary An 18‐year‐old Selle Français mare presented with recurrent mild left‐sided epistaxis. Guttural pouch endoscopy revealed multiple focal mucosal erosions and congested vasculature overlying an enlarged left temporohyoid joint (THJ), and standing cone beam computed tomography (CBCT) confirmed moderate left‐sided temporohyoid osteoarthropathy (THO)
S. E. Sage +4 more
wiley +1 more source
Prolonged Prothrombin Time due to Drug-Drug Interaction of Warfarin after the Change from Bosentan to Macitentan: A Case of Pharmacist Intervention in the Outpatient Clinic. [PDF]
Kurimura T +9 more
europepmc +1 more source

