Role of inflammation between pyroptosis and atherosclerosis / 解剖学报

Cardiovascular disease is the highest mortality disease in the world's chronic non-infectious diseases, and atherosclerosis plays an important role in the development of cardiovascular disease. Inflammation is closely related to the formation of atherosclerosis, and it is widely involved in the process of pyroptosis. The important functional molecules of nucleotide-binding oligomerization domain-like receptor protein 3(NLRP3), apoptosis-associated speck-like protein containing CARD(ASC) and Caspase-1 are involved in the formation of AS. The process of pyroptosis is accompanied by the production and release of interleukin(IL) and other inflammatory mediators, and the inflammatory reaction may in turn promote the development of pyroptosis. Therefore, the three aspects about the role of inflammation in atherosclerosis, pyroptosis, and its function between the two are reviewed in this review.

Study on the genetic mutations of 17 alpha-hydroxylase/17,20-lyase deficiency in Chinese patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the CYP17A1 gene mutations in Chinese patients with 17 alpha-hydroxylase/17, 20-lyase deficiency.</p><p><b>METHODS</b>Clinical data were retrospectively analyzed. The CYP17A1 gene mutations were detected in 5 cases with 17 alpha-hydroxylase/17, 20-lyase deficiency and their relatives. The genomic DNA of the patients was isolated from whole blood. Seven pairs of primers were used to amplify eight exons and exon-intron boundaries of the CYP17A1 gene. The amplified PCR products were purified by agarose gel and then directly sequenced. In order to confirm the DNA sequences of different alleles, some fragments were inserted into pMD 18-T vector and then sequenced. Sequencing results were compared to the established human CYP17A1 sequence.</p><p><b>RESULTS</b>Briefly, we found 2 kinds of compound mutations, of which were: (1) 6436-6438(TAC-->AA), causing amino acid Y329K, 418X; (2) 6531-6532(GC-->A), causing amino acid L361F, 418X. Among the five cases, four were homozygous for 6436-6438(TAC-->AA), whereas one was compound heterozygous for 6436-6438(TAC-->AA)/6531-6532(GC-->A). The clinical characteristics of 5 cases were all completely combined defects of 17 alpha-hydroxylase/17, 20-lyase, and they all carried two alleles of CYP17A1 gene mutations that all shifted the reading frame and resulted in truncated protein which lack of the activity center site of P450C17, of which corresponding with their clinical feature.</p><p><b>CONCLUSION</b>Nine alleles have the mutation of 6436-6438(TAC-->AA), accounting for 90% of total alleles (9/10). That suggests this kind of mutation may have racial specificity. More study should be done to have better understanding of the function of the truncated P450C17 enzymes.</p>

High-power holmium laser with percutaneous nephrolithotripsy for kidney calculi / 中华外科杂志

<p><b>OBJECTIVE</b>To assess the efficacy and safety of the high-power holmium laser with percutaneous nephrolithotripsy for kidney calculi.</p><p><b>METHODS</b>The high-power (60 W: 3.0 J x 20 Hz) holmium laser with percutaneous nephrolithotripsy was performed on 52 patients with single kidney pelvic or calyceal stones (average stone diameter 3.1 cm), 36 patients with multi-kidney pelvic and calyceal stones (average diameter 2.8 cm), 24 patients with staghorn stones (average diameter 6.8 cm). The duration of stone surgery, stone-free rate and complication were assessed.</p><p><b>RESULTS</b>The mean duration of stone surgery was 44 min, the stone-free rate was 66% (74/112) after the first session, 89% (100/112) at the end of session. 3 patients had high fever after percutaneous nephrolithotripsy, no other adverse events were noted.</p><p><b>CONCLUSIONS</b>The high-power holmium laser with percutaneous nephrolithotripsy can fragments calculi quickly and reduces the length of time of operation. It is an effective and safe technique for kidney calculi.</p>