Association between ulcerative colitis and pancreatitis: a Mendelian randomization study / 预防医学

Objective @#To examine the causal relationship between ulcerative colitis (UC) and pancreatitis, to provide basis for early screening of pancreatitis among UC patients.@*Methods@#Genomic data of UC were obtained from 47 745 European individuals pooled by the International Inflammatory Bowel Disease Genetics Consortium, including 156 116 single nucleotide polymorphism (SNP), and genomic data of pancreatitis were obtained from 198 166 European individuals pooled from FinnGen, including 16 380 428 SNPs. Mendelian randomization (MR) analysis was performed using the inverse variance weighted (IVW) method with 72 UC-associated SNPs as instrumental variables and pancreatitis as the study outcome. The heterogeneity was assessed using Cochran Q test, the horizontal pleiotropy was assessed using MR-Egger regression, MR-PRESSO was performed with the exclusion of outliers, and effect of individual SNP on the results was tested with the leave-one-out method. @*Results@#MR analysis results showed that patients with genetically predicted UC had an increased risk of pancreatitis relative to those without UC (OR=1.076, 95%CI: 1.019-1.136, P<0.05). Cochran Q test showed no heterogeneity (P>0.05), and MR-Egger regression did not reveal horizontal pleiotropy of instrumental variables (P>0.05). The MR analysis results were robust after removing SNP one by one.@*Conclusions@#Genetically predicted UC is associated with an increased risk of pancreatitis. The screening for pancreatitis risk should be enhanced in patients with UC.

Association between Crohn's disease and frailty: a bidirectional Mendelian randomization study / 预防医学

Objective @#o evaluate the association between Crohn's disease (CD) and frailty using a Mendelian randomization (MR) approach, so as to provide the evidence for prevention and control strategies.@*Methods@#Genetic association data for CD were collected through the International Inflammatory Bowel Disease Genetics Consortium, with 20 883 samples and 12 276 506 single nucleotide polymorphism (SNP), and genetic association data for frailty were collected through a meta-analysis including 175 226 samples and 7 589 717 SNPs. A forward MR analysis was performed using the inverse-variance weighted (IVW) method with 37 CD-associated SNPs as instrumental variables, and frailty as the study outcome, and a reverse MR analysis was performed with 13 frailty-associated SNPs as instrumental variables and CD as the study outcome. The heterogeneity was assessed using the Cochran's Q test, and the horizontal pleiotropy was assessed using the MR-PRESSO global test and MR-Egger regression. In addition, the robustness of the results was verified with the leave-one-out. @*Results@#Forward MR analysis results showed that patients with genetically predicted CD had an increased risk of frailty index relative to those without CD (β=0.018, 95%CI: 0.011-0.026, P<0.05). Cochran's Q test detected no heterogeneity (P>0.05), and neither the MR-PRESSO test nor the MR-Egger regression revealed horizontal pleiotropy of instrumental variables (both P>0.05). Leave-one-out analysis showed robustness of the MR analysis results. Reverse MR analysis showed no association between frailty index and the risk of CD (OR=0.740, 95%CI: 0.206-2.661, P>0.05). @*Conclusions@#Genetically predicted CD is associated with an increased risk of frailty. It is suggested that screening and prevention of frailty should be reinforced among CD patients.

Comparative genomics reveals diverse capsular polysaccharide synthesis gene clusters in emerging Raoultella planticola

Raoultella planticola is an emerging zoonotic pathogen that is associated with rare but life-threatening cases of bacteremia, biliary tract infections, and urinary tract infections. Moreover, increasing antimicrobial resistance in the organism poses a potential threat to public health. In spite of its importance as a human pathogen, the genome of R. planticola remains largely unexplored and little is known about its virulence factors. Although lipopolysaccharides has been detected in R. planticola and implicated in the virulence in earlier studies, the genetic background is unknown. Here, we report the complete genome and comparative analysis of the multidrug-resistant clinical isolate R. planticola GODA. The complete genome sequence of R. planticola GODA was sequenced using single-molecule real-time DNA sequencing. Comparative genomic analysis reveals distinct capsular polysaccharide synthesis gene clusters in R. planticola GODA. In addition, we found bla TEM-57 and multiple transporters related to multidrug resistance. The availability of genomic data in open databases of this emerging zoonotic pathogen, in tandem with our comparative study, provides better understanding of R. planticola and the basis for future work.

Radiofrequency Ablation Combined with Transcatheter Arterial Chemoembolization Therapy Versus Surgical Resection for Hepatocellular Carcinoma within the Milan Criteria: A Meta-Analysis

OBJECTIVE: To meta-analytically compare combined transarterial chemoembolization (TACE) plus radiofrequency ablation (RFA) and surgical resection (SR) for the treatment of hepatocellular carcinoma (HCC) within the Milan criteria. MATERIALS AND METHODS: PubMed, Medline, Embase, and Cochrane Library were searched for studies comparing these two therapies that were published between January 2006 and August 2017. Overall survival rate (OS), recurrence-free survival rate (RFS), major complications and the average length of hospital stay were compared between these two therapies. Meta-analytic pooled odds ratio (OR) was calculated using TACE plus RFA as the base category. RESULTS: Seven case-control studies and one randomized trial were identified. Meta-analytic results revealed that, compared with SR, TACE plus RFA had significantly higher 1-year OS (OR for survival = 0.50, p = 0.009) and lower major complications (OR = 1.88, p = 0.02) after therapy. Three studies reported on the length of hospital stay. The average length ± standard deviation reported in individual studies for SR and TACE plus RFA groups was 19.8 ± 8.4 days and 7.4 ± 2.2 days, respectively; 18.7 ± 4.9 days and 11.5 ± 6.9 days, respectively; and 16.6 ± 6.7 days and 8.5 ± 4.1 days, respectively (p < 0.0001 for all studies). Three or 5-year OS and 1-, 3-, or 5-year RFS did not significantly differ between the two therapies. CONCLUSION: Combined TACE plus RFA may be an alternative to SR for the treatment of patients with HCC within Milan the criteria. Non-randomized design in most of the original studies was a limitation.

Expression characteristics of the Daxx gene in the mouse testis during spermatogenesis / 中华男科学杂志

Objective@#To investigate the expression characteristic of the Daxx gene in the mouse testis and its role in spermatogenesis.@*METHODS@#Real-time PCR, Western blot and immunofluorescence were used in examining the expression characteristics of DAXX in the testis tissue from wild-type, Sertoli cell-specific androgen receptor knockout (SCARKO) and androgen receptor knockout (ARKO) mice at different postnatal weeks .@*RESULTS@#The Daxx gene was highly expressed in the testis tissue and mainly in the nuclei of the wild-type mice at 4 postnatal weeks. Compared with the wild-type, the ARKO mice showed a markedly decreased expression of DAXX (0.299±0.026), which displayed a polar distribution in the spermatogenic cells (0.853±0.058) and exhibited no significant difference in the SCARKO mice (1.000±0.015).@*CONCLUSIONS@#The Daxx gene expression is the highest in the middle-stage development of the mouse testis, significantly decreased in ARKO mice as compared with the wild-type, and its location influenced by specific AR knockout in Sertoli cells. DAXX may be involved in the regulation of spermatogenesis in mice.

Expression characteristics of the 1700008O03Rik gene in the mouse testis during spermatogenesis and results of bioinformatic analysis / 中华男科学杂志

Objective@#To investigate the characteristics of the expression of the RIKEN cDNA 1700008O03 (1700008O03Rik) gene in the testis of the mouse from birth to sexual maturity and its potential role in regulating spermatogenesis.@*METHODS@#Using mouse gene expression profile microarray, we screened the testis-specific gene 1700008O03Rik from the mouse. We studied the expression characteristics of the gene in the development of the mouse testis by reverse transcription PCR, quantitative real-time PCR, Western-blot, immunohistochemistry and immunofluorescence, and analyzed the structure of the 1700008O03Rik protein and its homology with other species using the bioinformatic software.@*RESULTS@#1700008O03Rik gene was highly expressed in the testis of the mouse, increasing in an age-dependent manner, and mainly in the endochylema of oblong spermatozoa. Bioinformatic analysis revealed a high homology of the 1700008O03Rik protein between human and mice, and phylogenetic tree analysis showed it to be highly conserved in mammalian evolution.@*CONCLUSIONS@#1700008O03Rik is a highly expressed gene in the mouse testis, mainly in the endochylema of oblong spermatozoa, which may be involved in the regulation of spermatogenesis in mice.

Advances in the study of SORCIN in cancer drug resistance / 药学学报

Soluble resistance-related calcium-binding protein, SORCIN, is a 22 kDa calcium binding protein with "penta-EF hand", which participates in the regulation of intracellular calcium homeostasis in cells. SORCIN is highly expressed in many tissues such as hearts and brains. It is overexpressed in some of cancer tissues as well. Recently, a large amount of clinical data showed that SORCIN was closely related to drug resistance in cancer. Meanwhile, basic research found that SORCIN participates in the formation of multidrug resistance (MDR) and is related to severity and poor prognosis of tumors. Moreover, it may also regulate MDR induced by ATP-binding cassette transporters. Therefore, SORCIN is expected to become a new target for diagnosis and treatment of MDR. The present review summarizes recent progress in SORCIN study and its effect on MDR.

Endovascular repair with covered stent for the treatment of ruptured carotid artery pseudoaneurysms / 介入放射学杂志

Objective To evaluate the efficacy and safety of endovascular repair with covered stent in treating ruptured carotid artery pseudoaneurysms.Methods The clinical data of 15 patients with ruptured carotid artery pseudoaneurysm,who were admitted to Sun Yat-Sen Memorial Hospital of Zhongshan University during the period from July 2009 to July 2015 to receive emergency rescue with endovascular covered stent implantation,were retrospectively analyzed.Of the 15 patients,the rupture of common carotid artery pseudoaneurysm caused by direct trauma was seen in one and caused by cervical operation was observed in one,the rupture of internal carotid artery pseudoaneurysm caused by cervical operation was found in 3,and the rupture of internal carotid artery pseudoaneurysm due to radiotherapy for nasopharyngeal carcinoma was seen in 10.Results Successful rescue with endovascular repair using covered stent implantation was obtained in all 15 patients.No immediate procedure-related complications or death occurred.The mean follow-up time was 11 months.During the follow-up period,no re-bleeding or cerebral ischemic complications occurred.Conclusion For the treatment of ruptured carotid artery pseudoaneurysms,endovascular repair with covered stent is minimally invasive,safe and effective with less complications;and along with the occlusion of carotid artery rupture,the blood supply of the head and neck returns to normal.However,further clinical researches with larger samples are needed before its long-term efficacy can be completely clarified.

Expression characteristics of the Ccdc70 gene in the mouse testis during spermatogenesis / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the expression characteristics of the gene of coiled-coil domain-containing protein 70 (Ccdc70) in the mouse testis and its potential role in spermatogenesis.</p><p><b>METHODS</b>Using expression profile microarray, we screened the mouse testis-specific gene Ccdc70, studied its expression characteristics in the mouse testis by RT-PCR, real-time PCR, Western blot and immunohistochemistry, followed by bioinformatic analysis of the Ccdc70 protein.</p><p><b>RESULTS</b>The Ccdc70 gene was expressed highly in the testis but lowly in the epididymis of the mice. The Ccdc70 protein was expressed mainly in the spermatocytes and round spermatids of the testis and in the epithelial cells of the epididymis. Bioinformatic analysis showed a structural domain in the Ccdc70 protein, which was highly conserved in mammalian evolution.</p><p><b>CONCLUSION</b>The Ccdc70 gene is highly expressed in the mouse testis and mainly in the spermatocytes, round spermatids, and epididymal epithelial cells, which indicates that it is involved in the regulation of spermatogenesis and epididymal sperm maturation.</p>

Expression of a testis-specific gene 1700001022RIK in mice and its bioinformatic analysis / 中华男科学杂志

<p><b>OBJECTIVE</b>To identify the expression characteristics of the 1700001022RIK (RIKEN cDNA 1700001022) gene in mice and explore its function by bioinformatic analysis.</p><p><b>METHODS</b>Using the expression profile of gene microarray, we detected the expression of a new testis-specific gene, 1700001022RIK, in mice. We analyzed its expression characteristics in the testis tissue and their changes in different developmental stages of the testis by RT-PCR, real-time RT-PCR, Western blot, and immunohistochemistry. We performed bioinformatic analysis using a bioinformatic software.</p><p><b>RESULTS</b>The 1700001022RIK gene was specifically expressed in the mouse testis in an age-dependent manner, most highly in the adult mice. The 1700001022RIK protein was mainly expressed in the spermatogonia, spermatocytes, and round spermatids of the adult mice. Bioinformatic analysis showed that the 1700001022RIK protein amino acid sequence had a high similarity in human and mice, which indicated that this gene was highly conserved in mammals.</p><p><b>CONCLUSION</b>1700001022RIK is a testis-specific gene mainly expressed in the spermatogonia, spermatocytes, and round spermatids of seminiferous tubules, which might be involved in the regulation of spermatogenesis.</p>

UBE2B gene and male infertility: an update / 中华男科学杂志

Male infertility is a worldwide problem, and about 15% of the cases are associated with spermatogenesis-related gene mutation. The mammalian gene UBE2B is the homolog of the RAD6 gene of yeast, belonging to the ubiquitin proteasome system and playing an important role in spermatogenesis. Mice lacking the UBE2B gene are infertile, with reduced sperm motility, increased morphologically abnormal sperm, and inhibited meiosis of spermatogonia. Accumulated evidence shows that UBE2B gene mutants and single nucleotide polymorphisms are associated with male infertility. This article reviews the relation between the UBE2B gene and male infertility, offering some theoretical evidence for the diagnosis and treatment of male infertility.

Devine's technique with free skin grafting for concealed penis with prepuce deficit / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the clinical effect of Devine's technique with free skin grafting in the treatment of concealed penis with prepuce deficit.</p><p><b>METHODS</b>This study included 7 children with concealed penis, aged 6 - 15 (mean 8.6) years, 6 of them treated by circumcision previously. All the patients underwent Devine's operation to resect the inelasticity sarcolemma and lengthen the penis. The length of prepuce deficit ranged from 2 to 4 cm. Intermediate split thickness skin grafts of the corresponding length were taken from the femoribus internus to wrap up the tunica albuginea penis, followed by the procedures of saturation, encapsulation and fixation.</p><p><b>RESULTS</b>Surgery time ranged from 70 to 120 minutes, averaging 90.5 minutes. The penis was prolonged about 2 - 4 cm after surgery. A 6-month follow-up revealed desirable penile appearance and normal penile erection.</p><p><b>CONCLUSION</b>Devine's technique with free skin grafting from the femoribus internus is an ideal treatment for concealed penis with prepuce deficit.</p>

Mouse-induced pluripotent stem cells have the potential to differentiate into induced primordial germ cells / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate whether mouse-induced pluripotent stem (iPS) cell line IP14D-1 has the potential to differentiate into induced primordial germ cells (iPGCs), and to explore the changes in the expression of iPGCs-differentiation associated genes and their possible mechanisms.</p><p><b>METHODS</b>Undifferentiated IP14D-1 was cultured to proliferate and then differentiated to form 4-, 7- and 9-day-old induced embryoid bodies (iEBs) in vitro, respectively. RT-PCR and immunofluorescence were used to detect the expressions of Lin28, Blimpl, Stra8 and Mvh, as well as the localization of the corresponding protein in iEBs.</p><p><b>RESULTS</b>The expression of Blimpl was higher than that of Lin28 in the undifferentiated IP14D-1 and mouse embryonic stem cells (mESCs). Mvh and Stra8 as well as mESCs and EBs were also expressed in IP14D-1 and iEBs, but with no significant differences. The expression of Lin28 was gradually increased in the IP14D-1-derived iEBs from 4 to 7 days, but decreased at 9 days, and the expression of Blimp1 was gradually reduced with the prolonged growing time of iEBs.</p><p><b>CONCLUSION</b>A stable system was established for the culture and differentiation of IP14D-1 and IP14D-1-derived iEBs. The expressions of Lin28, Blimp1, Mvh and Stra8 were not significantly different between the undifferentiated IP14D-1 and mESCs, nor were the expressions of Mvh and Stra8 between iEBs and EBs. IP14D-1 and iEBs had the potential to differentiate into iPGCs, which increased in number in the 7-day-old iEBs, and the expression of iPGC-differentiation associated Lin28 became lower in the older iEBs.</p>

Extracellular matrix regulates expressions of germ cell differentiation associated genes in mouse embryonic stem cells / 中华男科学杂志

<p><b>OBJECTIVE</b>Interactions of cells with the extracellular matrix (ECM) are essential for cell differentiation. The authors sought to determine the roles of different ECMs in the expressions of germ cell differentiation associated genes after mouse embryonic stem cells (mESCs) differentiated into embryoid bodies (EBs).</p><p><b>METHODS</b>EBs derived from mESCs were maintained in suspension for 3 days and then cultured on the plates coated with various ECMs, including fibronectin (F), laminin (L), matrigel (M), collagen (C) and nonadhensive agarose (A), respectively, for 1, 2, 3 or 4 days, followed by evaluation of the expressions of the genes associated with germ cell differentiation by RT-PCR.</p><p><b>RESULTS</b>The EBs of the F and L groups exhibited facilitated adherent differentiation. The expressions of the Blimp-1, Stella, Mvh and Stra8 genes were increased gradually in the F and L but not obviously in the M and C groups. The overall gene expressions were low in the A group, but high and then gradually decreased in the blank control group. Endogenous fibronectin, laminin and integrin beta1 were obviously expressed in the L and control groups.</p><p><b>CONCLUSION</b>Laminin /integrin beta1 signaling may play a role in regulating the differentiation of mESCs into primordial germ cells (PGCs). Exogenous laminin can facilitate the differentiation of mESC-derived EBs into PGCs by acting on the integrin beta1 subunit, while exogenous fibronectin may be involved in the regulation of the differentiation through other integrin subunit. Endogenous laminin and fibronectin secreted by EBs may also facilitate cell differentiation in the absence of exogenous ECMs.</p>

Expression of the voltage-dependent anion channel gene in human ejaculated spermatozoa / 中华男科学杂志

<p><b>OBJECTIVE</b>To identify the genes involved in sperm motility.</p><p><b>METHODS</b>We hybridized asthenospermia and normal motile sperm cDNA samples with the human whole genome Affymetrix chip to screen differentially expressed genes. Then we detected the mRNA expressions of the voltage-dependent anion channel genes (VDACs) in human organs and spermatozoa by RT-PCR and compared their expressions in the poor and normal motility spermatozoa.</p><p><b>RESULTS</b>Differentially expressed genes VDACs were identified by analysis of the hybridization signals, including the 3 subtypes VDAC1, VDAC2 and VDAC3. The expression of VDAC2 mRNA was significantly decreased in the poor motility sperm (0.568 +/- 0.036), as compared with the healthy men (0.803 +/- 0.043, P < 0.01).</p><p><b>CONCLUSION</b>The decreased expression of VDAC2 in the ejaculated spermatozoa is possibly associated with the reduction of sperm motility.</p>

Expression and location of SPAG9 in human ejaculated spermatozoa / 中华男科学杂志

<p><b>OBJECTIVE</b>SPAG9, as a member of the MAPK family, plays an important role in sperm-egg fusion. This study aimed to detect the expression of SPAG9 in human ejaculated spermatozoa.</p><p><b>METHODS</b>Different human tissues (as from the muscle, liver, esophagus, lung, stomach, kidney, prostate, uterus, testis and epididymis) and semen samples were obtained from healthy volunteers, and semen analyses were performed according to the WHO criteria. Human ejaculated spermatozoa were purified by discontinuous Percoll density gradient centrifugation to rule out the contamination of germ cells and leucocytes. RT-PCR and indirect immunofluorescence were used to detect the expression of SPAG9 in human spermatozoa.</p><p><b>RESULTS</b>RT-PCR showed that SPAG9 mRNA was expressed in different tissues and human ejaculated spermatozoa. Indirect immunofluorescence studies revealed the location of SPAG9 protein in the equatorial plate and flagella of human spermatozoa.</p><p><b>CONCLUSION</b>SPAG9 is expressed in ejaculated spermatozoa and may play a role in sperm capacitation and motility.</p>

Advances in the researches of spermatogenic protein, Ropporin / 中华男科学杂志

Ropporin has been identified as a spermatogenic cell-specific protein and may be involved in sperm maturation, motility, capacitation, hyperactivation and acrosome reaction. However, latest studies have shown that Ropporin is expressed weakly in normal non-testis tissues and highly in hematologic malignancies. Its highly conservative expression in mammalians demonstrates its importance to life. This paper updates the characterization, expression and its distribution, and biological function of Ropporin, and the advances in the clinical researches of the protein.

Differential expression of ODF1 in human ejaculated spermatozoa and its clinical significance / 中华男科学杂志

<p><b>OBJECTIVE</b>To compare the expressions of ODF1 (outer dense fiber of the sperm tail 1) in ejaculated spermatozoa from normozoospermic and asthenozoospermic men with low sperm motility.</p><p><b>METHODS</b>Semen analyses were performed on the semen samples obtained from normozoospermic (n=20) and asthenozoospermic (n=20) volunteers according to the WHO criteria. To rule out the contamination of germ cells and leucocytes, the human ejaculated spermatozoa were purified by a discontinuous Percoll density gradient centrifugation. RT-PCR and Western blot were used to detect the expressions of ODF1 in the spermatozoa from the two groups.</p><p><b>RESULTS</b>RT-PCR showed that the expression of ODF1 mRNA was significantly lower in the spermatozoa from the asthenozoospermic patients than in those from the normozoospermic men (1.35 +/- 0.25 vs. 2.79 +/- 0.28, P < 0.05). Western blot confirmed the results from RT-PCR and revealed an obviously decreased expression of ODF1 in the spermatozoa of the asthenozoospermic patients, with statistically significant difference from the normozoospermic group (1.44 +/- 0.26 vs. 3.64 +/- 0.34, P < 0.05).</p><p><b>CONCLUSION</b>The expression of ODF1 was significantly decreased in the ejaculated spermatozoa of asthenozoospermic men, which might be responsible for low sperm motility.</p>

Roles of calcium ion channels and its clinical significance in sperm motility / 中华男科学杂志

As an important intracellular messenger, Ca2+ plays a major role in sperm motility. In spermatozoa, multiple Ca2(+)-permeable channels have been identified in the plasma membrane of mammalian sperm, including voltage-gated Ca2+ channels (Cav channels), cyclic nucleotide-gated channels (CNGC), cation channels of sperm (CatSper) and the transient receptor potential (TRP) family. As calcium regulation of sperm motility is mainly mediated by these calcium channels, any aberration of the channels can lead to the decline of sperm activities. Recent progress in the researches on the relationship between sperm motility and calcium-related ion channels is briefly reviewed in this article.

Differential expression of VASA gene in ejaculated spermatozoa from normozoospermic men and patients with oligozoospermia / 亚洲男科学杂志(英文版)

<p><b>AIM</b>To detect the expression of VASA in human ejaculated spermatozoa, and to compare the expression of VASA between normozoospermic men and patients with oligozoospermia.</p><p><b>METHODS</b>Ejaculated spermatozoa were collected from normozoospermic men and patients with oligozoospermia by masturbation, and subsequently segregated through a discontinuous gradient of Percoll to obtain the spermatozoa. Reverse transcription polymerase chain reaction (RT-PCR), quantitative RT-PCR (QRT-PCR), immunoflurescence and Western blotting were used to detect the expression of VASA in mRNA and protein levels.</p><p><b>RESULTS</b>VASA mRNA was expressed in the ejaculated spermatozoa. QRT-PCR analysis showed that VASA mRNA level was approximately 5-fold higher in normozoospermic men than that in oligozoospermic men. Immunofluorescence and Western blotting analysis showed that VASA protein was located on the cytoplasmic membrane of heads and tails of spermatozoa, and its expression was significantly decreased in oligozoospermic men, which is similar to the result of QRT-PCR.</p><p><b>CONCLUSION</b>The expression of VASA mRNA and protein was significantly decreased in the sperm of oligozoospermic men, which suggested the lower expression of the VASA gene might be associated with pathogenesis in some subtypes of male infertility and VASA could be used as a molecular marker for the diagnosis of male infertility.</p>