Int J Clin Exp Patho
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Int J Clin Exp Patho · Jan 2015
Case ReportsNovel mutation of RUNX2 gene in a patient with cleidocranial dysplasia.
Cleidocranial dysplasia is a rare hereditary skeletal disorder due to heterozygous loss of function mutations in the RUNX2 gene that encodes runt-related transcription factor 2 (RUNX2). Here we report a 52 year-old woman with cleidocranial dysplasia due to a novel RUNX2 mutation. ⋯ We identified a case of cleidocranial dysplasia due to a novel mutation of RUNX2 gene at exon 3 (c.476 del G).
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Int J Clin Exp Patho · Jan 2015
Case ReportsPigmented villonodular synovitis of the elbow with rdial, median and ulnar nerve compression.
Pigmented villonodular synovitis (PVNS) is a rare, idiopathic proliferative disorder of the synovium. While, PVNS of elbow is extremely rare. We report an 82-year-old female patient with 20-year-history of gradually increased PVNS in her left elbow. ⋯ After the surgery, the patient gained a functional recovery. Two years after surgery she had a tumor recurrence, but without any symptoms of nerve compression syndromes. We discussed its clinical diagnosis, radiological features, MRI findings, pathophysiology, and treatment.
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Int J Clin Exp Patho · Jan 2015
Identification of potential plasma biomarkers for esophageal squamous cell carcinoma by a proteomic method.
Among malignant tumors, the mortality rate of esophageal squamous cell carcinoma (ESCC) ranks sixth in the world. Late-stage diagnosis of ESCC increases the mortality. Therefore, more effective biomarkers for early diagnosis of ESCC are necessary. ⋯ The results were consistent with the data from the proteomics results, further suggesting that AHSG and LRG may be employed as potential biomarkers for the early diagnosis of ESCC. In summary, this study was the first time to use DIGE combined MALDI-TOF/TOF platform to identify the potential plasma biomarkers for ESCC. The plasma AHSG and LRG showed great potential for ESCC screening.
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Int J Clin Exp Patho · Jan 2015
Circulating miR-122-5p as a potential novel biomarker for diagnosis of acute myocardial infarction.
MicroRNAs (miRNAs) play key roles in cardiac development, and the expression of miRNAs is altered in the diseased heart. The aim of this study was to explore the value of circulating microRNA-122-5p (miR-122-5p) as a potential biomarker for acute myocardial infarction (AMI). ⋯ Our results implied that circulating miR-122-5p could be a potential biomarker for AMI.
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Int J Clin Exp Patho · Jan 2015
Association between MUC5B polymorphism and susceptibility and severity of idiopathic pulmonary fibrosis.
Idiopathic pulmonary fibrosis (IPF) is a group of lung diseases that cause irreversible architectural distortion and impair gas, and finally progressive pulmonary functional decline and death, in which the common variant in the promoter region of the mucin 5B (MUC5B) gene may be involved. The present study aims to investigate whether variants within the MUC5B gene rs35705950 contributed to IPF susceptibility and severity in Chinese Han Population. ⋯ This study demonstrated that the MUC5B polymorphism rs35705950 is associated with increased risk of idiopathic pulmonary fibrosis susceptibility, severity, and the decreased overall survival.