ABSTRACT
<p><b>OBJECTIVE</b>To explore whether there are gene mutations of Tolloid-like 1 (TLL-1) gene in Chinese patients with sporadic congenital heart disease (CHD).</p><p><b>METHODS</b>One hundred and fifteen patients with sporadic CHD were selected as CHD group. One hundred and two age and gender-matched healthy people were recruited as control group. After amplifying the exon 10 of the TLL-1 gene by polymerase chain reaction, the polymerase chain reaction products were purified, sequenced and analyzed in order to investigate the TLL-1 gene mutation.</p><p><b>RESULTS</b>An insertion mutation of base A in the exon 10 of TLL-1 gene was identified in 7 out of 115 CHD patients, including 3 patients with atrial septal defect, 2 patients with ventricular septal defect, 1 patients with patent ductus arteriosus and 1 patients with complex CHD, the total mutation rate was 6.1% in CHD group and 0 in control group (P < 0.01).</p><p><b>CONCLUSIONS</b>TLL-1 gene mutation with an insertion mutation of base A in exon 10 is often in Chinese patients with various CHD. The underlying pathogenesis between TLL-1 gene mutation and occurrence of congenital heart disease in Chinese people remains unclear and warrants further investigations.</p>
Subject(s)
Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Asian People , Genetics , Base Sequence , Case-Control Studies , Exons , Heart Defects, Congenital , Genetics , Mutagenesis, Insertional , Pedigree , Tolloid-Like Metalloproteinases , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To investigate the myocardial protective effect of Rhodiola on patients who received epidoxorubicin (EPI) treatment.</p><p><b>METHODS</b>Forty-two patients with myocardial damage who received 3 courses of EPI-contained chemotherapy were randomly and equally assigned to two groups, the Rhodiola treated group and the control group. After 1-month treatment, the changes in serum troponin I (cTnI) level, cardiac integral backscatter (IBS), and left ventricle ejective fraction (LVEF) in patients were observed and compared between groups.</p><p><b>RESULTS</b>Levels of cTnI in the treated group and control group were (0.54 +/- 0.05) mg/L and (0.98 +/- 0.03) mg/L respectively, IBS were 55.23 +/- 5.72 scores and 61.23 +/- 5.96 scores, and LVEF (%) were 68 +/- 3 and 57 +/- 2 respectively, all showed significant differences between groups (P<0.05).</p><p><b>CONCLUSION</b>Rhodiola can improve cardiac function, and suppress the increase of serum cTnI level and IBS in patients who received EPI treatment.</p>