ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source
Paradoxical massive pulmonary thromboembolism in a postpartum woman with factor VII deficiency with bleeding tendency: A case report. [PDF]
Kang D +6 more
europepmc +1 more source
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio +8 more
wiley +1 more source
Acquired Isolated Factor VII Deficiency in Plasma Cell Dyscrasias: A Brief Presentation of Two Plasma-Cell-Leukemia-Related Cases and Review of Literature. [PDF]
Furlan A, Sartori F, Gherlinzoni F.
europepmc +1 more source
ABSTRACT Objective This study aimed to investigate the immunological response to influenza vaccination, the incidence and severity of influenza infection, and the side effects of the vaccination in patients with ischemic stroke. Methods This prospective observational study was conducted between 2023 and 2024 at Ramathibodi Hospital.
Achiraya Pakngao +5 more
wiley +1 more source
Planning Renal Replacement Therapy in Factor VII Deficiency. [PDF]
Murt A, Erol E, Ergun S, Ar MC.
europepmc +1 more source
Reproductive health and hemostatic issues in women and girls with congenital factor VII deficiency: A systematic review. [PDF]
Abdul-Kadir R, Gomez K.
europepmc +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
A multicenter, observational study to evaluate hemostasis following recombinant activated FVII treatment in patients in Japan with congenital factor VII deficiency. [PDF]
Seita I, Kinai E.
europepmc +1 more source

