Identification and functional analysis of combined oxidative phosphorylation deficiency 28 gene mutation / 中华内科杂志

Objective:To report a case of combined oxidative phosphorylation deficiency 28 (COXPD28) in China, identified the pathogenic mutation and explored the pathogenic mechanism preliminarily.Methods:The clinical characteristics of a patient with COXPD28 were retrospectively analyzed and the pathogenic mutations were identified by mitochondrial gene sequencing and whole exome sequencing. The wild-type and mutant plasmids of pathogenic genes were constructed, and effect of mutation on protein expression by quantitative real-time PCR (qPCR) and Western blot were evaluated. Statistical methods mainly used one-way ANOVA and LSD test.Results:A 21 year old female patient presented with lactic acid poisoning due to repeated chest distress and wheezing since childhood. The sequencing of the whole exon group gene found that solute carrier family 25 member 26 (SLC25A26) gene had a compound heterozygous mutation (c.34G>C, p.A12P; c.197C>A, p.A66E), which was the first report in China. In vitro function test showed that the expression levels of SLC25A26 mRNA and S-adenosylmethionine carrier (SAMC) protein in cells transfected with SLC25A26 mutant plasmid were significantly lower than those transfected with wild type plasmid. The p.A66E mutant plasmid reduced the expression level of SLC25A26 mRNA and SAMC protein to 6% and 26% of wild type plasmids respectively (both P<0.001), while p.A12P mutant plasmid decreased to 62% and 82% of wild type plasmids respectively ( P<0.001, P=0.044). When the double mutant (p.A66E+p.A12P) plasmids were co-transfected, the expression levels of SLC25A26 mRNA and SAMC protein decreased to 47% and 57% of the wild type plasmids, respectively ( P<0.001, P=0.001). Conclusion:The pathogenic mutation gene of this patient with COXPD28 is SLC25A26 gene mutation (p.A66E, p.A12P), which causes the decrease of SLC25A26 expression level, mitochondrial oxidative phosphorylation dysfunction, and induces COXPD28.

Analysis of risk factors for recurrence of giant cell tumor of the sacrum and mobile spine combined with preoperative embolization.

AIM: To investigate the factors related to the local recurrence-free survival time (LRFS) after surgical treatment of GCT of the sacrum and mobile spine combined with preoperative embolization. MATERIAL AND METHODS: We retrospectively reviewed 28 consecutive patients with GCT of the sacrum and mobile spine who underwent initial surgical excision combined with preoperative embolization between 1995 and 2011. Data regarding age, gender, tumor location, tumor size, tumor extension, radiation therapy, and local recurrences were reviewed and analyzed statistically. RESULTS: All patients underwent intralesional resection. The average duration of follow-up was 86.4 months (range, 15 - 193 months). 8 (28.6%) patients developed local recurrence. The average recurrence time was 35.6 months (range, 5 - 79 months), and the local recurrence-free survival rates at 3 and 5 years were 89.1% and 75.5%, respectively. LRFS was found statistically longer in intracompartmental (T1) tumors as compared with extracompartmental (T2) tumors (P < 0.05), but not for age, gender, tumor location, tumor size, or radiation therapy. CONCLUSION: Intralesional excision with preoperative embolization is a feasible choice for T1 tumors of the sacrum and mobile spine, but for T2 tumors, more aggressive treatment may be required. The choice of surgical treatment should be balanced between the complications and tumor recurrence.

Laparoscopic Habib 4X bipolar radiofrequency device in laparoscopic liver resection / 中华肝胆外科杂志

Objective To evaluate the efficacy of laparoscopic Habib 4X (Habib 4X,Angio Dynamics US),a new bipolar radiofrequency (RF) device,in laparoscopic liver resection.Methods Thirty one patients who underwent laparoscopic liver resection using the laparoscopic Habib 4X from Sept 2009 to Apr 2012 were studied retrospectively.Results The laparoscopic Habib 4X was success fully used in 30 patients (malignant,n=18; benign,n=12).The procedures performed included left lateral sectionectomy (n=12),left hemi-hepatectomy (n=1),Ⅴ or Ⅵ segmentectomy (n=9),Ⅴ and Ⅵ bi-segmentectomy (n=2) and wedge exclusion (n=6).The time required for precoagulation and resection was 10～68 min (median 24 min).The mean intraoperative blood loss was 145±75ml (range 8-370 ml).Mild abnormal liver function which returned to normal in 3 to 5 days was detected postoperatively.The mean hospital stay was 7.8±2.6 d (range 3～12 days).There was no patient who developed postoperative bleeding,bile leakage or abdominal abscess.For cancer patients,there was no local recurrence on follow-up.Conclusion Laparoscopic Habib 4X,a device when used in laparoscopic liver resection,resulted in minimal blood loss and quick recovery.It had only mild effect on liver function and it had low morbidity.In addition,it might reduce the risk of local recurrence in malignant tumours.