Risk Factors for Lower Limb Deep Vein Thrombosis in Patients With Single-Level Lumbar Fusion: A Prospective Study of 710 Cases.

Lower limb deep vein thrombosis (DVT) is not an uncommon postoperative complication of spinal fusion surgery. However, the related risk factors identified in previous studies remain controversial. This study aimed to investigate risk factors for lower limb DVT in patients with single-level lumbar fusion surgery. Between January 2010 and December 2016, a total of 710 patients undergoing lumbar fusion were recruited for this study, including 172 males and 538 females (aged 18-75 years). Deep vein thrombosis was detected by ultrasonography. Accordingly, patients were divided into the DVT group and the non-DVT group and compared in terms of operative data, underlying diseases, and biochemical data. Additionally, logistic regression analysis was performed to identify risk factors for lower limb DVT. The incidence of lower limb DVT was 11.8% (84 of 710 cases). Five patients were symptomatic, with lower limb pain and swelling. Two patients developed pulmonary embolism and 1 died. Binary logistic regression indicated that advanced age (P = .001, odds ratio [OR] = 2.86, 95% CI: 1.85-5.12), hypertension (P = .006, OR = 4.10, 95% CI: 1.09-2.30), and increased d-dimer (P < .001, OR = 3.49, 95% CI: 2.05-6.36) were risk factors for postoperative DVT. In conclusion, for patients with single-level lumbar fusion, advanced age, increased d-dimer, and hypertension may contribute to DVT development after spinal fusion surgery. Therefore, patients with these risk factors should be protected during the perioperative period.

Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.

BACKGROUND: Familial hypercholesterolemia (FH) is a type of dominant autosomal disease that causes high levels of plasma low-density lipoprotein cholesterol (LDL-C). In the past years, molecular data related to FH were limited in China. Now, to gain more information about FH, we analyzed one proband with a severe FH phenotype as well as his relatives. METHODS: After the entire coding sequence and the intron-exon junctions of the low-density lipoprotein receptor (LDLR) gene were amplified using PCR, we sequenced the LDLR gene of a Chinese FH family. RT-PCR was used to detect changes in the mRNA. RESULTS: Two novel mutations were identified in the LDLR gene of this family. One, W165X, was a G > A substitution at the third nucleotide of codon 165. The other, IVS5-1G > A, was also a G > A substitution at the acceptor splice site of intron 5. The most striking discovery is that the proband was heterozygous for W165X but homozygous for IVS5-1G > A. The cDNA sequencing showed that the IVS5-1G > A mutation caused the insertion of 10 nucleotides, namely GCTCTCACAA, between exon 5 and exon 6. CONCLUSIONS: The two nucleotide variations are thought to be the FH-causing mutations because the co-segregation of the mutant allele with the phenotype of FH has been shown in this Chinese family. These data show an increase in the mutational spectrum of FH in China and verify a scarce mutational form in the LDLR gene.