Single lung transplantation with concomitant contralateral lung volume reduction for end- stage emphysema / 南方医科大学学报

<p><b>OBJECTIVE</b>To evaluate the effect of single lung transplantation with concomitant contralateral lung volume reduction surgery (LVRS) for the management of end-stage emphysema.</p><p><b>METHODS</b>A 46 year-old patient with end-stage emphysema received right lung transplantation and LVRS through the bilateral anterior-lateral intercostal incisions simultaneously.</p><p><b>RESULTS</b>Hyperinflation of the native lung or mediastinal shift did not occur after the operation, and the transplanted right lung dilated well without suppression. Acute rejection was not observed and the patient weaned from tracheal intubation 60 h after operation and from ventilator 108 h postoperatively. Persistent air leak occurred after LVRS but closed after instillation of hyperosmotic glucose. The patient was discharged 45 days after operation with significantly improved pulmonary function and normal life.</p><p><b>CONCLUSION</b>Single lung transplantation with concomitant contralateral lung volume reduction for emphysema eliminates such complications of single lung transplantation as native lung hyperinflation, mediastinal shift, excessive suppression of the transplanted lung and hemodynamics instability, and can improve the success rate of the operation.</p>

Mutation analysis of PAX6 gene in a large Chinese family with aniridia / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia.</p><p><b>METHODS</b>Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers (D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction (PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation.</p><p><b>RESULTS</b>Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA).</p><p><b>CONCLUSIONS</b>Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.</p>