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Diagnostic and Management Challenges in Interferon-γ Release Assay-Positive Patient with Sarcoid Panuveitis from a Non-Endemic Tuberculosis Region.
Ocul Immunol Inflamm
January 2025
Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
Purpose: To report a case of biopsy-proven sarcoidosis in a patient with panuveitis and a positive interferon-gamma release assay (IGRA) from a non-endemic tuberculosis (TB) country.
Methods: Case report.
Results: A 26-year-old male from the United Arab Emirates (UAE) presented with granulomatous panuveitis characterized by mutton-fat keratic precipitates, anterior chamber and vitreous cells, and retinal vasculitis.
Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.
Mol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
The elusive bipartite scaphoid: a rare congenital variant or misdiagnosed pseudoarthrosis? A proposal for novel radiological criteria.
Folia Morphol (Warsz)
January 2025
Department of Orthopedics and Traumatology, University Hospital Queen Giovanna-ISUL, Medical University of Sofia, Sofia, Bulgaria.
Variations in the development of carpal bones are uncommon, with the scaphoid bone typically forming from the fusion of the os centrale carpi and the radial chondrification center during embryogenesis. A bipartite scaphoid is a rare congenital disorder that occurs when these ossification centers fail to fuse, with a prevalence ranging from 0.1% to 0.
View Article and Find Full Text PDFFungal keratitis caused by : a case report.
Front Med (Lausanne)
December 2024
Department of Ophthalmology, Ningbo Yinzhou No.2 Hospital, Ningbo Urology and Nephrology Hospital, Ningbo, Zhejiang, China.
Background: We report a rare case of fungal keratitis caused by , a filamentous fungus that is widely distributed in soil and graminaceous plants.
Case Presentation: A 40-year-old Mongoloid male patient came to our outpatient clinic with painful swelling of the left eye and redness, after being cut by a tree branch 1 week prior. After examination, the patient was diagnosed with a corneal ulcer of the left eye, and was given levofloxacin eye drops and levofloxacin ophthalmic gel.
Case report: Toxic epidermal necrolysis induced by tislelizumab in a patient with esophageal squamous cell carcinoma.
Front Med (Lausanne)
December 2024
Department of Oncology, Ganzhou People's Hospital, Ganzhou, China.
Background: Immune checkpoint inhibitors (ICIs) have been widely applicated for the treatment of patients with advanced esophageal cancer. Skin-related adverse reactions are frequent with ICIs, with toxic epidermal necrolysis (TEN) being a severe and potentially life-threatening cutaneous reaction.
Case Presentation: We present a case of a 70-year-old male with locally advanced esophageal cancer who developed severe toxic epidermal necrolysis (TEN) after 18 days of tislelizumab combined with chemotherapy.
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