RESUMO
To investigate the mutation site of pathogenic gene in patients with hypertrophic cardiomyopathy (HCM) and to analyze the relationship between the genotype and clinical phenotype. Methods: Targeted exon capture sequencing was conducted in a HCM proband for 30 coding exons related HCM gene by all exon amplification and high-throughput sequencing. Furthermore, Sanger sequencing was performed in other family member and in 200 healthy volunteers for verification. The familial investigation included in clinical presentation, physical examination, electrocardiogram and echocardiography. Results: There were 3/6 blood relatives carrying cardiac myosin-binding protein gene MyBPC3 G772A heterozygous mutation, the mutation site was at 258 amino acid of MyBPC3 as glutamic acid (Glu) was substitute to lysine (Lys), such mutation was not found in rest of family member and not in healthy volunteers. The onset of proband and her daughter was rather late, they had palpitation and chest tightness; echocardiography showed interventricular septum basal segment thickening (16-18) mm. Proband was complicating paroxysmal ventricular tachycardia, malignant arrhythmia and heart failure, the maximum pressure gradient of left ventricular outflow was 56 mmHg, which with the high risk for sudden death. Conclusion: Comprehensive gene test has been helpful for clinical stratification, early diagnosis and treatment. MYBPC3 site mutation c.G772A might be the pathogenic mutation in that specific HCM family.
RESUMO
Objective To correlate dynamic parameters at contrast enhanced CT and interstitial fibrosis grade of non-small cell lung cancer (NSCLC). Methods Twenty-nine patients with NSCLC were evaluated by multi-slice CT. Images were obtained before and at 20,30,45,60,75,90,120,180,300,540,720,900 and 1200 s after the injection of contrast media, which was administered at a rate of 4 ml/s for a total of 420 mg I/kg body weight. Washout parameters were calculated. Lung cancer specimens were stained with hematoxylin-eosin stain and collagen and elastica double stain. Spearman test was made to analyze correlation between dynamic parameters and interstitial fibrosis grade of tumor. Results Twentynine NSCLC demonstrated washout at 20 min 12. 1 (0. 32-58.0 ) HU, washout ratio at 20 minutes 15.3% (0. 3%-39.2% ), slope of washout at 20 minutes 0. 0152 %/s ( 0. 0007%/s-0. 0561%/s ).Interstitial fibrosis of 29 lesions was graded as grade Ⅰ (10), grade Ⅱ (14) and grade Ⅲ (5). There were significant correlation between washout at 20 min ( r = - 0. 402, P ＜ 0. 05 ), washout ratio at 20 min ( r =-0.372,P＜0.05), slope of washout ratio (r = -0.459,P ＜0.05) and interstitial fibrosis grade in tumors. Conclusion NSCLC washout features at dynamic multi-detector CT correlates with interstitial fibrosis in the tumor.
RESUMO
Objective: To investigate the expression of suppressor of cytokine signaling 2 (SOCS2) in breast carcinoma tissues and to discuss its relationship with clinical pathological data of breast carcinoma patients. Methods: The tissue microarray for 171 cases of breast carcinoma specimens, 18 adjacent tissues and 20 breast benign lesions were established. Then the expression of SOCS2, ER, PR, cerbB2, p53 and Ki-67 was detected by tissue microarray technique and S-P immunohistochemistry. Results: Positive rates of the SOCS2 protein in the breast carcinoma specimens, adjacent tissues and breast benign lesion were 57. 89% (99/171), 94. 44% (17/18), and 75% (15/20), respectively. The expression of SOCS2 was significantly different in breast carcinoma tissues of different TNM classification, different histological grades, and with or without Ki-67 expression and lymphatic metasrasis(P