CREST syndrome represents a subset of systemic sclerosis (SSc). Five patients with CREST syndrome and 5 with SSc without cardiac symptoms and with normal routine cardiac examination were investigated by cardiovascular magnetic resonance. All CREST patients had ectatic coronary arteries, and in 1 of them, an inferior, transmural myocardial infarction was identified. Furthermore, patchy fibrosis was identified in all the patients with SSc, although their coronary arteries were normal. Cardiovascular magnetic resonance can be a useful, noninvasive diagnostic tool in the evaluation of asymptomatic CREST and SSc patients.
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http://dx.doi.org/10.1016/j.cjca.2010.12.052 | DOI Listing |
iScience
January 2025
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC 29425, USA.
Mutations in the human genes encoding the endothelin ligand-receptor pair and cause Waardenburg-Shah syndrome (WS4), which includes congenital hearing impairment. The current explanation for auditory dysfunction is defective migration of neural crest-derived melanocytes to the inner ear. We explored the role of endothelin signaling in auditory development in mice using neural crest-specific and placode-specific mutation plus related genetic resources.
View Article and Find Full Text PDFJ Pathol
January 2025
SIREDO Oncology Center (Care, Innovation and Research for Children and AYA with Cancer), Institut Curie, Université Paris Cité, Paris, France.
Rhabdoid tumours (RT) are an aggressive malignancy affecting <2-year-old infants, characterised by biallelic loss-of-function alterations in SWI/SNF-related BAF chromatin remodelling complex subunit B1 (SMARCB1) in nearly all cases. Germline SMARCB1 alterations are found in ~30% of patients and define the RT Predisposition Syndrome type 1 (RTPS1). Uveal melanoma (UVM), the most common primary intraocular cancer in adults, does not harbour SMARCB1 alterations.
View Article and Find Full Text PDFCureus
December 2024
Department of Oral Medicine, Nihon University School of Dentistry, Tokyo, JPN.
Calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome, a systemic sclerosis subtype, features skin thickening, vascular issues, and organ involvement, causing complications in the gastrointestinal and musculoskeletal systems. Herein, we present a rare case of oral candidiasis, with CREST syndrome. The patient presented with xerostomia, tongue erythema, and burning pain.
View Article and Find Full Text PDFNeurospine
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.
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