Analysis of clinical features and pathogenic variants in a Chinese pedigree affected with congenital glycosylation disease / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic basis for a Chinese pedigree diagnosed with congenital glycosylation disease (CGD).@*METHODS@#Clinical manifestations of two brothers were analyzed. Whole exome sequencing was carried out for the sib pair. Suspected variants were verified by Sanger sequencing.@*RESULTS@#Both the proband and her younger brother were found to carry compound heterozygous variants of the PMM2 gene, which included a known pathogenic mutation of c.395T>C (p.I132T) and a previously unreported c.448-1(delAG) in the 5' end of exon 6 of the gene.@*CONCLUSION@#The compound heterozygous variants of the PMM2 gene probably underlay the CGD in the sib pair.

Discussion on the optimal retrieval time of Cook Medical inferior vena cava filters / 介入放射学杂志

Objective To discuss the optimal retrieval time of the indwelling Gunther Tulip and Cook Celcet inferior vena cava filters (VCF). Methods During the period from March 2013 to April 2015 at Shengli Oilfield Central Hospital, the implantation of retrievable inferior vena cava filter was performed in 58 patients. Among the 58 patients, Gunther Tulip VCF was used in 13 and Cook Celcet VCF was employed in 31. Twenty-one patients followed the doctor's advice to receive retrieval procedure of VCF within three months after the implantation. Results Among the 21 patients, successful retrieval of VCF was obtained in 19. The mean indwelling time of Gunther Tulip VCF was 54.4 days, the longest time being 79.0 days. Gunther Tulip VCF was successfully removed in 3 patients and retrieval of VCF failed in 2 patients, with a retrieval success rate of 60%. The mean indwelling time of Cook Celcet VCF was 37.6 days, the longest time being 67.0 days. Cook Celcet VCF was successfully removed in 16 patients, with the success rate of retrieval being 100%. Conclusion Despite many VCFs that have been indwelled for a long time can be safely retrieved, retrieval procedure should be performed as early as possible in order to improve the retrieval success rate of VCF. It seems that the use of Cook Celcet VCF is a better choice although it is more expensive.

Catheter-directed thrombolytic therapy for acute superior mesenteric vein thrombus: comparison between via venous route and via arterial route / 介入放射学杂志

Objective To compare the clinical effects of catheter-directed thrombolytic therapy for acute superior mesenteric vein thrombus (SMVT) between via superior mesenteric vein (SMV) route and via superior mesenteric artery (SMA) route. Methods The clinical data of 32 patients with acute SMVT, who were treated with catheter-directed thrombolytic therapy at the Central Hospital of Shengli Oil Field, were retrospectively analyzed. Among the 32 patients, percutaneous transhepatic catheter-directed thrombolytic therapy via SMV route was performed in 23 (SMV group), and percutaneous transhepatic catheter-directed thrombolytic therapy via SMA route was carried out in 9 (SMA group). Results After the treatment, the clinical symptoms were significantly improved in 28 patients, including 22 of SMV group (95.7%) and 6 of SMA group (66.7%). CT angiography showed that the blood flow became almost complete patency in 17 patients of SMV group (73.9%) and in only 3 patients of SMA group (33.3%). Both the thrombolysis procedure time and X-ray exposure time of SMV group were obviously longer than those of SMA group. Conclusion Both via SMV and via SMA catheter-directed thrombolytic therapies are effective treatment for acute SMV thrombosis. The former is more effective, while the manipulation of the latter is technically simpler.