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Atrial Fibrillation Related Titin Truncation Is Associated With Atrial Myopathy in Patient-Derived Induced Pluripotent Stem Cell Disease Models.
Circ Genom Precis Med
January 2025
Centre for Heart Lung Innovation, University of British Columbia, Vancouver. (K.H., M.A., L.R., Y.L., A.S., H.H., L.R.B., Z.W.L.).
Background: Protein-truncating mutations in the titin gene are associated with increased risk of atrial fibrillation. However, little is known about the underlying pathophysiology.
Methods: We identified a heterozygous titin truncating variant (TTNtv) in a patient with unexplained early onset atrial fibrillation and normal ventricular function.
Growth-friendly spinal surgery: Review of the effect on truncal growth.
N Am Spine Soc J
December 2024
Department of Orthopaedic Surgery, SSM Health Saint Louis University Hospital, Saint Louis, MO 63110, United States.
Background: Pediatric spinal deformity surgery affects ultimate spinal height in the growing child. This effect on ultimate spinal height has also been shown to affect pulmonary development and ultimately pulmonary function. There has been an increasing trend toward growth-friendly spinal surgery in early onset scoliosis to minimize the negative consequences of early spinal fusion surgery.
View Article and Find Full Text PDFAcute therapeutic effects and pathophysiology of eosinophilic granulomatosis with polyangiitis neuropathy.
BMJ Neurol Open
January 2025
Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Ube, Japan.
Objective: This study investigated the effects of early treatment and pathophysiology on eosinophilic granulomatosis with polyangiitis neuropathy (EGPA-N).
Methods: Twenty-six consecutive patients with EGPA-N were diagnosed and treated within a day of admission and underwent clinical analysis. Peripheral nerve recovery rates were evaluated after early treatment by identifying the damaged peripheral nerve through detailed neurological findings.
Unusual Manifestation of Vitamin K Deficiency, Nodular Purpura: A Case Series.
Indian Dermatol Online J
December 2024
Department of Dermatology, St John's Medical College, Bangalore, Karnataka, India.
Vitamin K deficiency is a common entity in infancy characterized by bleeding from various sites, intracranial bleeding being the most commonly reported feature. Nodular purpura is an uncommon manifestation of vitamin K deficiency in infancy with a few reported cases in literature. We present four cases of infants presenting with nodular purpura as a manifestation of late-onset vitamin K deficiency bleeding (VKDB).
View Article and Find Full Text PDFClinical characteristics and biomarker profile in early- and late-onset Alzheimer's disease: the Shanghai Memory Study.
Brain Commun
January 2025
Institute and Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China.
Early-onset Alzheimer's disease constitutes ∼5-10% of Alzheimer's disease. Its clinical characteristics and biomarker profiles are not well documented. To compare the characteristics covering clinical, neuropsychological and biomarker profiles between patients with early- and late-onset Alzheimer's disease, we enrolled 203 patients (late-onset Alzheimer's disease = 99; early-onset Alzheimer's disease = 104) from a Chinese hospital-based cohort, the Shanghai Memory Study.
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