The histological spectrum of the central fibrous body (CFB) of the heart, particularly in humans, is not fully characterized. Herein, we describe the presence of cartilage and bone within the CFB of 2 explanted heart specimens from patients with known mutation-driven cardiomyopathy involving the and genes, review the existing literature on the identified variants particularly (p.Asn185Thrfs*14) and (p.Arg141Trp), and provide insights into the plausible nature of such histopathological observation based on animal studies and the few reported cases in humans.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1177/1093526620937572 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
CCfrag: scanning folding potential of coiled-coil fragments with AlphaFold.
Bioinform Adv
December 2024
Department of Protein Evolution, Max Planck Institute for Biology, Tübingen 72076, Germany.
Motivation: Coiled coils are a widespread structural motif consisting of multiple α-helices that wind around a central axis to bury their hydrophobic core. While AlphaFold has emerged as an effective coiled-coil modeling tool, capable of accurately predicting changes in periodicity and core geometry along coiled-coil stalks, it is not without limitations, such as the generation of spuriously bent models and the inability to effectively model globally non-canonical-coiled coils. To overcome these limitations, we investigated whether dividing full-length sequences into fragments would result in better models.
View Article and Find Full Text PDFFibrous bodies in pituitary adenoma.
Med J Armed Forces India
December 2024
Classified Specialist (Pathology & Histopathology), Command Hospital (Central Command), Lucknow, India.
Purpose: This study evaluates the efficacy of intravitreal injections (IVI) of faricimab in patients with neovascular age-related macular degeneration (nAMD) and retinal pigment epithelium detachment (RPED) resistant to other anti-VEGF agents.
Material And Methods: The study included 61 patients (61 eyes) with nAMD previously treated with aflibercept and/or brolucizumab IVIs. Three groups were formed: group 1 received aflibercept IVI (32 eyes), group 2 received brolucizumab IVI (14 eyes), and group 3 received aflibercept followed by brolucizumab IVI (15 eyes).
Atypical Presentation of Spindle Cell Lipoma in a Young Male with a History of Malignant Melanoma.
Dermatopathology (Basel)
November 2024
Department of Dermatology, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.
Spindle cell lipoma (SCL) is a benign adipocytic tumor usually found in the subcutis of the posterior neck, upper back, and shoulder, predominantly in middle-aged males. This case report describes an atypical presentation of SCL in a 26-year-old male with a history of malignant melanoma. The patient presented with an erythematous plaque with central hyperpigmentation on the right upper arm, an uncommon location and presentation for SCL.
View Article and Find Full Text PDFRapidly Expanding Fusiform Abdominal Aortic Aneurysm without Stenotic Lesion Caused by Fibromuscular Dysplasia: A Rare Case.
Ann Vasc Dis
December 2024
Department of Cardiovascular Surgery, Aomori Prefectural Central Hospital, Aomori, Aomori, Japan.
Fibromuscular dysplasia (FMD) is an arterial disease characterized by fibrous arterial wall thickening and irregular proliferation and degeneration of smooth muscle cells in muscular arteries. Abdominal aortic aneurysms (AAA) are rare, with only a few reported cases. A characteristic feature of AAA is an aneurysm protruding forward near the terminal aorta with stenosis.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!