Staged retrograde flexible ureteroscopic lithotripsy versus miniaturized percutaneous nephrolithotomy for renal stones of 2-4 cm in diameter: a randomized controlled trial / 南方医科大学学报

<p><b>OBJECTIVE</b>To compare the efficacy and safety of staged retrograde flexible ureteroscopic lithotripsy (FURS) and miniaturized percutaneous nephrolithotomy (m-PCNL) for treatment of renal stones of 2-4 cm in diameter.</p><p><b>METHODS</b>This randomized controlled trial was conducted in 70 patients with renal stones of 2-4 cm in diameter admitted in our hospital between January 2013 and December 2015. The patients were randomized to receive staged FURS (35 cases) or m-PCNL (35 cases), and the total treatment time, total hospital stay after procedure, total medical cost, treatment success, decrease in hemoglobin level and complications were compared between the two groups.</p><p><b>RESULTS</b>The treatment success rate was 100% in both groups, but the complete stone-free rate was significantly lowered in FURS group than m-PCNL group (65.71% vs 94.29%, P<0.01). The average decrease in hemoglobin level was 3.37∓1.56 g/L in FURS group and 11.93∓2.24 g/L in m-PCNL group (P<0.01). The overall complication rates in the two groups were 6.25% and 9.37%, respectively (P>0.05). Minor complications (grade I by Clavien-Dindo classification) occurred in one case in FURS group (fever) and two cases in m-PCNL group (self-limiting hematuria); major complications (grade II) occurred in one case in FURS group (steinstrase) and one case in m-PCNL group (blood transfusion). In staged FURS and m-PCNL groups, the mean total treatment time was 4.06∓1.11 vs 1.26∓0.47 weeks (P<0.01), the mean hospital stay after procedure was 3.66∓1.29 vs 5.13∓0.43 days (P<0.01), and the mean total medical cost was 54 291.00 RMB ∓6149.00 vs 23 482.00 RMB ∓2317.00 (P<0.01), respectively.</p><p><b>CONCLUSION</b>FURS is safe and effective for treatment of renal stones of 2-4 cm in diameter, and a staged procedure is necessary to achieve a stone-free status for large calculi. Both sophisticated equipment and rich surgical experience are essential to ensure treatment success.</p>

Effect of midazolam on mantle cell lymphoma JeKo-1 cell line and its relevant mechanisms / 中国实验血液学杂志

This study was aimed to explore the effect of midazolam on mantle cell lymphoma cell line JeKo-1 and the relevant mechanisms. Effects of midazolam on the proliferation and apoptosis of JeKo-1 cells were observed by CCK8 assay and flow cytometry, respectively. Effect of midazolam on the expression of BCL-2, cytochrome C (Cyto-C), pro-caspase-9, pro-caspase-8 and pro-caspase-3 protein were detected by Western blot. The results showed that midazolam could inhibit the growth of JeKo-1 cells significantly and the concentration of 50% growth inhibition (IC50) at 48 hours was approximately 40 µmol/L. After treatment with 20, 40, 80 µmol/L midazolam for 48 hours, a dose-dependent apoptosis of JeKo-1 cells could be observed. Meanwhile, a dose-dependent reduction of BCL-2, pro-caspase-9 and pro-caspase-3 protein expression and increase of Cyto-C protein expression in JeKo-1 cells were found, but the expression of pro-caspase-8 protein did not change. It is concluded that midazolam possibly initiates the mitochondrial pathway, not the death receptor pathway, by reducing the expression of BCL-2, leading in turn to the releasing of Cyto-C in mitochondria, then activating caspase-9 and caspase-3 protein, triggers the caspase cascade, and induces the apoptosis of JeKo-1 cells ultimately.

Improving the diagnostic method for the SLC25A13 gene 851del4 mutation and analysis of the common mutation frequencies in Quanzhou area / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To ascertain whether the carrier rate is high in Quanzhou which is next to Taiwan in South of the Yangtze River.</p><p><b>METHODS</b>Population analysis of three SLC25A13 mutations, i.e. 851del4, 1638-1660 dup, and IVS6+ 5G to A was carried out in 450 healthy individuals. DNA diagnostic method of 851del4 was improved by using PCR-restriction fragment length polymorphism( PCR-RFLP) with restriction enzyme HpyCH4 IV, and the results were confirmed by GeneScan method.</p><p><b>RESULTS</b>Six carriers with 851del4, 3 with 1638-1660 dup and 3 with IVS6+ 5G to A was found.</p><p><b>CONCLUSION</b>The high carrier rate (0.027, 12/450) obtained from testing of only three mutations indicated that there must be a certain number of patients with citrin deficiency in Quanzhou, even in Fujian. Therefore, it is important for physicians in Quanzhou, Fujian province to learn about citrin deficiency, and to diagnose and treat the patients correctly.</p>

Overview of Citrin Deficiency:SLC25A13 Mutations and the Frequency / 实用儿科临床杂志

Citrin deficiency, autosomal recessive disorder, caused by mutation of SLC25A13 gene on chromosome 7q21.3 has two major phenotypes : neonatal intrahepatic chnlestatic hepatitis(N1CCD) and adult-onset type Ⅱ citrullinemia(CTLN2).So far, we have identified 52 SLC25A13 mutations and diagnosed the patients not only in Japan(166 CTLN2 and 238 NICCD) but also in other countries.We have detected 76 Chinese, 13 Korean and 15 Vietnamese patients with the same mutations as Japanese, and 13 patients(from Israel, UK, USA or Czech)with mutations different from those found in Japanese,indicating a wide distribution of citrin deficiency.DNA diagnoses of 13 known SLG25A13 mutations revealed that the carrier frequency was high in East Asian populations:Chinese(73/4 600=1/63) ,Japanese(21/1372=1/65) and Korean(25/2 690=1/108), suggesting that near by 100 000 East Asians are liomozygotes.It is important to find out patients with citrin deficiency,to treat them,and to prevent onset of severe CTLN2.