CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome, also known as the limited cutaneous form of systemic sclerosis (lcSSc), is a multisystem connective tissue disorder often manifesting as a consequence of superimposed autoimmune hepatitis. Herein, we present a case of a 40-year-old female with a past one-year history of hepatitis C presenting with the chief complaints of progressive thickness and tightness of the skin of hands and face and dysphagia for the past three months, along with arthralgia of the hands for the past two months, suggestive of CREST syndrome. Through this case, we intend to emphasize the association between extrahepatic manifestations and the emergence of autoantibodies in patients with hepatitis C virus (HCV) infection and discuss the clinical relevance of the autoantibodies in extrahepatic disorders, in our case, CREST syndrome. It is well-known that chronic HCV infection plays a significant part in the production of non-organ-specific autoantibodies, including antinuclear antibodies (ANA) and smooth muscle antibodies, and organ-specific autoantibodies. Clinicians must be aware of the possibility of such liver damage in patients with systemic sclerosis.
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http://dx.doi.org/10.7759/cureus.11986 | DOI Listing |
Neurospine
December 2024
Department of Neurosurgery, Chosun University Hospital, Gwangju, Korea.
This case report and video demonstrate the technique of full-endoscopic J-shaped transforaminal L5 exiting nerve decompression in Bertolotti syndrome. Bertolotti syndrome, characterized by a congenital lumbosacral transitional vertebra, often results in mechanical lower back pain and nerve root compression. A 69-year-old male presented with progressive radiating pain in the right leg and tingling in the L5 dermatome.
View Article and Find Full Text PDFPLoS One
January 2025
Ionis Pharmaceuticals, Inc., Carlsbad, CA, United States of America.
Lateral Meningocele Syndrome (LMS), a disorder associated with NOTCH3 pathogenic variants, presents with neurological, craniofacial and skeletal abnormalities. Mouse models of the disease exhibit osteopenia that is ameliorated by the administration of Notch3 antisense oligonucleotides (ASO) targeting either Notch3 or the Notch3 mutation. To determine the consequences of LMS pathogenic variants in human cells and whether they can be targeted by ASOs, induced pluripotent NCRM1 and NCRM5 stem (iPS) cells harboring a NOTCH36692-93insC insertion were created.
View Article and Find Full Text PDFArterioscler Thromb Vasc Biol
December 2024
Department of Surgery (Cardiac), Yale School of Medicine, New Haven, CT. (P.R., B.J., A.H., G.L., W.L., R.A., G.T.).
Background: Smooth muscle cells (SMCs) of cardiac and neural crest origin contribute to the developing proximal aorta and are linked to disease propensity in adults.
Methods: We analyzed single-cell transcriptomes of aortic SMCs from adult mice to determine basal states and changes after disrupting TGFβ (transforming growth factor-β) signaling necessary for aortic homeostasis.
Results: A minority of Myh11 lineage-marked SMCs differentially expressed genes suggestive of embryological origin.
The characteristic of thoracolumbar junction syndrome (TLJS( described by Maigne are pain in the iliac crest and tenderness on palpation at the level of the junction between the lower dorsal and the upper lumbar vertebra. It is an often unrecognized and treatable cause of low back pain. TLJS is commonly associated with those who have low back pain, although it does not always present pain in this region.
View Article and Find Full Text PDFCornea
December 2024
Department of Ophthalmology, Semmelweis University, Budapest, Hungary.
Purpose: In PAX6 syndrome, it is still not clear, whether prenatally, parallel to the iris tissue developmental anomaly, there is neural ectodermal, neural crest, or mesodermal cell deposition at the corneal endothelium, affecting endothelial structure and function. In addition, because of the postnatal corneal inflammation and commonly appearing secondary glaucoma, progressive endothelial changes are expected. Our purpose was to study the corneal endothelium in subjects with PAX6 aniridia, using in vivo confocal laser scanning microscopy.
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