Association between mutations of SCN9A gene and pain related to Parkinsonism / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screening mutations of exons 15, 18 and 26 of sodium channel Nav1.7 (SCN9A) gene, and to assess its association with pain related to Parkinsonism.</p><p><b>METHODS</b>Respectively, 101 patients with primary Parkinson's disease (PD) and 104 similar-aged volunteers without PD were recruited from March, 2008 to January, 2011. Mutations of above 3 exons in SCN9A gene was detected with PCR and direct sequencing. For 100 patients with Parkinsonism, the pain was scored with a McGill pain rating scale. Statistical analysis was performed with SPSS.</p><p><b>RESULTS</b>The prevalence of pain in Parkinsonian was 57%. 43.86% patients with pain were males, and 56.14% were females. Based on Chaudhuri criteria, the pain symptoms may be classified as musculoskeletal pain (10.52%), radicular pain (10.52%), dyskinesis pain (54.38%), pain from akathisia and restlessness (14.04%), dyskinesis combined with radicular pain (5.26%), skeletal muscles pain and headache (1.75%), and arthralgia (3.50%). Two missense mutations were identified, which included 2794A/C (0.941/0.059) (rs12478318) (M932L) in exon 15 and 3448C/T (0.988/0.012) (rs6746030) (R1150W) in exon 18. The wild type A/C for the 2794 locus had a higher prevalence in PD patients with pain, but this was not statistically different. All of the 5 heterozygotes for 3448 (C/T) were found in Parkinsonian patients with pain. No homozygotes were found.</p><p><b>CONCLUSION</b>The prevalence of pain was higher in Parkinsonian patients than general population, and the proportion of males to females was similar. More patients have suffered dyskinesis pain. A 3448 (C/T) mutation of SCN9A gene may be related to pathogenesis of pain in Parkinsonism.</p>

Erythrocyte oxidative stress in children with left to right shunt congenital heart disease / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study erythrocyte oxidative stress status and its association with left to right shunt congenital heart disease (CHD) in children.</p><p><b>METHODS</b>A total of 31 children with left to right shunt CHD were enrolled, including 7 cases of atrial septal defect (ASD), 12 ventricular septal defect (VSD), 4 patent ductus arteriosus (PDA), 6 patent foramen ovale (PFO), and 2 complete endocardial cushion defect. Twenty healthy age-matched (1 month to 3 years old) children severed as the control group. The contents of superoxide dismutase (SOD) and malonaldehyde (MDA) in erythrocytes were determined using ELISA. ESR was measured by Westergen. PaO(2) and PaCO(2) were measured by Blood Gas Analyzer (GEM Premier 3000).</p><p><b>RESULTS</b>The MDA content in erythrocytes in the CHD group was significantly higher, in contrast, SOD content was significantly lower than that in the control group (P<0.05). The CHD children with heart failure had more decreased SOD and more increased MDA contents compared with the control group (P<0.01). The SOD level was the highest in the PFO group and was the lowest in the complete endocardial cushion defect group. The SOD level in the PFO group was significantly higher than that in the ASD, VSD and complete endocardial cushion defect groups (P<0.05). The MDA level was the highest in the VSD group and was the lowest in the complete endocardial cushion defect group. There were significant differences in the MDA level among CHD subgroups (P<0.05). The ESR was negatively correlated to the SOD level (r=-0.191, P<0.05), while positively correlated to PaO(2) level in CHD children (r=0.216, P<0.05). There was a negative correlation between SOD and MDA levels (r=-0.312, P<0.05).</p><p><b>CONCLUSIONS</b>Oxidative stress exists in children with left to right shunt CHD. The SOD and MDA contents in erythrocytes can be used as markers for the assessment of severity of the disease.</p>