Int J Clin Exp Patho
-
Int J Clin Exp Patho · Jan 2015
Case ReportsPleuroparenchymal fibroelastosis associated with aluminosilicate dust: a case report.
Idiopathic pleuroparenchymal fibroelastosis (IPPFE) is a recently described rare condition, characterized by pleural and subpleural parenchymal fibrosis, predominantly in the upper lobes. The clinical course of this disease is progressive and prognosis is poor, with little information regarding the etiology of IIPPFE. This report describes an IPPFE patient with convincing evidence of inhalational dust and suggests that dust exposure should be considered as a new causative factor of IPPFE.
-
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).
-
Int J Clin Exp Patho · Jan 2015
Procoagulant role of neutrophil extracellular traps in patients with gastric cancer.
Patients with gastric cancer (GC) commonly exhibit a hypercoagulable state that results in significant morbidity and mortality. Recent studies have shown that neutrophil extracellular traps (NETs) trigger coagulation through an intrinsic pathway and contribute to thrombus initiation and progression. In this study, we aimed to determine the procoagulant activity (PCA) of NETs in patients with GC. ⋯ These results suggest that GC creates a systemic environment that primes neutrophils to release procoagulant NETs. Thus, targeting NETs might improve the coagulopathy of patients with GC.
-
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.
-
Int J Clin Exp Patho · Jan 2015
Measurement of cystatin C levels in the cerebrospinal fluid of patients with amyotrophic lateral sclerosis.
The diagnosis of amyotrophic lateral sclerosis (ALS) is mainly based on clinical and electrophysiological features. It is yet to be confirmed if cystatin C (Cys-C) can be a candidate diagnostic biomarker for ALS. This retrospective study aimed at investigating the changes in the level of Cys-C levels in the cerebrospinal fluid (CSF) of Chinese patients with ALS. ⋯ The statistical analysis exhibited reduced levels of serum Cys-C in Upper limb-onset ALS (U-ALS) compared to Lower limb-onset ALS (L-ALS). The present data demonstrate that the level of Cys-C in CSF should not be considered as a biomarker of ALS. Cys-C in serum may be useful as an indicator of the severity of disease and site of symptoms onset although the specificity of serum Cys-C levels in ALS was not significant.