Echocardiographic manifestation and analysis of TGFBR1 gene variant in a Chinese patient with Loeys-Dietz syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a patient with aortic root aneurysm and valve insufficiency.@*METHODS@#The patient was subjected to whole exome sequencing (WES) with a focus on the analysis of genes related to aortic aneurysm and other genetic diseases involving the cardiovascular system. Suspected pathogenic site was validated by Sanger sequencing of the patient and his family members.@*RESULTS@#WES has revealed a heterozygous c.830T>C variant (NM_001130916.3) in the patient, which was not detected among healthy members of his family. SIFT, PolyPhen2 and Mutation Taster predicted the variant to be disease causing, resulting in destruction of the structure and function of the TGFBR1 protein. Based on the American College of Medical Genetics and Genomics (ACMG) guidelines, the variant was predicted to be likely pathogenic (PM1+PM2+PM6+PP3+PP4).@*CONCLUSION@#The c.830T>C variant of the TGFBR1 gene probably underlay the disease in the proband. Above finding has enriched the spectrum of TGFBR1 gene variants in Chinese population.

Interaction between Brucella melitensis 16M and small ubiquitin-related modifier 1 and E2 conjugating enzyme 9 in mouse RAW264.7 macrophages

Brucella is an intracellular pathogen that invades a host and settles in its immune cells; however, the mechanism of its intracellular survival is unclear. Modification of small ubiquitin-related modifier (SUMO) occurs in many cellular activities. E2 conjugating enzyme 9 (Ubc9) is the only reported ubiquitin-conjugating enzyme that links the SUMO molecule with a target protein. Brucella's intracellular survival mechanism has not been studied with respect to SUMO-related proteins and Ubc9. Therefore, to investigate the relationship between Brucella melitensis 16M and SUMO, we constructed plasmids and cells lines suitable for overexpression and knockdown of SUMO1 and Ubc9 genes. Brucella 16M activated SUMO1/Ubc9 expression in a time-dependent manner, and Brucella 16M intracellular survival was inhibited by SUMO1/Ubc9 overexpression and promoted by SUMO1/Ubc9 depletion. In macrophages, Brucella 16M-dependent apoptosis and immune factors were induced by SUMO1/Ubc9 overexpression and restricted by SUMO1/Ubc9 depletion. We noted no effect on the expressions of SUMO1 and Ubc9 in B. melitensis 16M lipopolysaccharide-prestimulated mouse RAW264.7 macrophages. Additionally, intracellular survival of the 16M△VirB2 mutant was lower than that of Brucella 16M (p < 0.05). VirB2 can affect expression levels of Ubc9, thereby increasing intracellular survival of Brucella in macrophages at the late stage of infection. Collectively, our results demonstrate that B. melitensis 16M may use the VirB IV secretion system of Brucella to interact with SUMO-related proteins during infection of host cells, which interferes with SUMO function and promotes pathogen survival in host cells.

Evaluation of coronary artery hemodynamics and its relationship with atherosclerosis in west diet fed LDL‐R knockout mice by ultrasound bio‐microscopy / 中华超声影像学杂志

To evaluate the relationship between atherosclerosis and hemodynamic of coronary artery in mice detecting by ultrasound bio‐microscopy flow imaging . Methods Double 14 20‐week‐old LDL‐R‐/‐and C57BL/6 male mice were selected ,and randomly divided into two groups in each genotype according to weight . Each two groups were fed to 28 weeks or 36 weeks age respectively with west diet . Coronary artery hemodynamics in these mice were assessed in vivo by Vevo ?2100 ultrasound imaging system ,then the intima‐media thickness( IM T ) of aorta in histopathology were analyzed . T he differences of coronary artery hemodynamic parameters such as maximum velocity ( Vmax ) ,mean velocity ( Vmean) and velocity time integral ( V T I) were compared between mice of different genotypes of the same week and mice of different weeks of the same genotype . And the relationship between coronary artery hemodynamic in ultrasound and aortic IM T in histopathology were analyzed . Results ① All coronary hemodynamic parameters in LDL‐R‐/‐ mice were significantly lower than those of wild‐type mice except the Vmax between two 28‐week‐old genotypes group at the same weeks of age of different genotypes ( all P ＜0 .05) . But there was no significant difference in coronary artery hemodynamic parameters between mice of the same genotype at different weeks of age( P ＞0 .05) . ②T he histopathological measurements of aortic IM T in LDL‐R‐/‐mice were significantly higher than those of wild type mice ( all P ＜ 0 .05 ) ,and those of 36‐week‐old mice were significantly higher than those of 28‐week‐old mice ( all P ＜ 0 .05 ) . ③ All coronary hemodynamic parameters such as Vmax ,Vmean and V TI were negatively correlated with pathological measurements of aortic IM T ( r ＝ －0 .532 , －0 .423 , －0 .524 ; all P ＜ 0 .05 ) . Conclusions The parameters of coronary artery hemodynamics obtained by ultrasound bio‐microscopy are well correlated with the pathological results of atherosclerosis . Ultrasound bio‐microscopic flow imaging can be used as a new method to evaluate the degree of atherosclerosis in mice by detecting the hemodynamic parameters of coronary artery .

Assessment of left ventricular function in HeFH patients with myocardial layer-specific analysis based on two-dimensional echocardiography / 中国医学影像技术

Objective To explore the value of layer-specific strain in assessment of left ventricular function in patients with heterozygous familial hypercholesterolemia (HeFH) with normal left ventricular ejection fraction (LVEF).Methods Thirty-four patients with diagnosed HeFH and underwent transthoracic echocardiography were included as HeFH group,while 29 healthy volunteers were taken as control group.EchoPAC software was used to obtain endocardial longitudinal strain (LSendo),myocardial longitudinal strain (LSmyo) and epicardial longitudinal strain (LSepi) of the epicardial,and then statistical analysis was performed.Results LSendo and LSmyo in HeFH group were significantly lower than those in control group (P＜0.001).LSendo and LSmyo were negatively correlated with total cholesterol and low density lipoprotein cholesterol (all P＜0.05).Conclusion Layer-specific strain of left ventricular is of great value in assessing early myocardial damage in patients with HeFH.

Fermentation, purification and immunogenicity evaluation of hepatitis E virus-like particles expressed in Hansenula polymorpha / 生物工程学报

To develop a new recombinant hepatitis E vaccine, we used Hansenula polymorpha expression system to express recombinant hepatitis E virus-like particles (HEV VLPs), to construct a recombinant engineered strain HP/HEV2.3. The fermentation conditions and purification process were studied next. The first working seed lots were fermented in liquid culture, and the fermentation products were collected, then crushed, clarified, purified by ultrafiltration, silica gel adsorbed and desorbed, concentrated by ultrafiltration, purified by liquid chromatography and sterilized by filtration. The purity reached 99% with a yield of 33%. Electron microscopy analysis revealed that both the purified recombinant HEV VLPs from HP/HEV2.3 and natural hepatitis E virus particles appear identical of being 32 nm. The resulting DNA sequence obtained from VLPs is identical to the published HEV sequence. The SDS-PAGE analysis has revealed that the protein molecular weight of the HEV VLPs is 56 kDa, and the expression product HEV VLPs were accumulated up to 26% of total cellular protein. The expression level is 1.0 g/L. Western blotting, enzyme-linked immunosorbent assay (ELISA) results of the protein and ED₅₀ of the vaccine showed that the HEV VLPs have good antigenicity and immunogenicity. In summary, the recombinant HEV VLPs from Hansenula polymorpha can be used in the manufacture of a new genetically engineered vaccine against hepatitis E.

Comparison of the effects of Baimai ointment and baclofen in stroke patients with spasticity / 中国基层医药

Objective To compare the effects of Baimai ointment and baclofen in stroke patients with spas-ticity.Methods 84 cases accompanied by limb spasticity in stroke patients by digital table were randomly divided into Baimai ointment group and baclofen group,42 cases in each group.The Baimai ointment group were treated with Baimai ointment on the spastic limbs,the baclofen group received oral baclofen tablets 30 -75mg/days for 2 weeks, 4 weeks,8 weeks.The curative effects of the two groups were compared before and after treatment.Results Before and after treatment in the two groups,the levels of spasticity,pain and activities of daily living (ADL)differences were statistically significant and Baimai ointment in the treatment of spasm.After 4 weeks and 8 weeks,the Ashworth score of the Baimai ointment group were (1.59 ±0.46)points,(0.89 ±0.56)points,and those of baclofen group were (1.75 ±0.64)points,(1.45 ±0.48)points,the differences were statistically significant(t values were 2.916, 3.367,all P <0.05).After 2 weeks,4 weeks and 8 weeks,the VAS score of the Baimai ointment group were (2.72 ± 0.54)points,(2.02 ±0.24)points,(1.24 ±0.12)points,and baclofen group were (3.56 ±0.44)points,(3.15 ± 0.48)points,(2.58 ±0.26)points,the differences were statistically significant(t values were 2.975,3.359,5.416, all P <0.05),activities of daily living (ADL)was higher than that of the baclofen group.After 8 weeks,the MBI score of the Baimai ointment group was (64.46 ±10.78)points,and baclofen group was (50.74 ±9.18)points,the difference was statistically significant between the two groups (t values was 3.562,P <0.05).Conclusion Baimai ointment has the better antispasmodic effect than baclofen in patients with stroke.

Application of a Pressure-measuring and Stone-extracting Ureteral Access Sheath in Flexible Ureteroscopy For Renal Stones / 昆明医科大学学报

Objective To investigate the application value of a pressure-measuring and stone-extracting ureteral access sheath (UAS) used together with negative pressure suction system during flexible ureteroscopy in the treatment of renal caculus.Methods A retrospective analysis was performed on the 98 cases of renal caculus who received flexible ureteroscopic holmium laser lithotripsy (FURS) in the Department of Urology of the Kunming General Hospital of Chengdu Military Command from November 2014 to September 2015,and the enrolled cases were divided into two groups:group A and group B.The new UAS was used in group A combined with vacuum suction during lithotripsy,and simple manometry type UAS was used in group B.The infusion pump flow rate of 0.2 L/min was set in the operation,the perfusion pressure limit was set to 100 mmHg,the suction pressure of group A was 10 kPa.Perfusion flow rate and pressure was adjusted in a timely manner based on the clear vision and the internal pressure force on the kidney.Then we recorded and compared the internal pressure and variation trend of renal and perfusion time of two groups.Results Two groups of patients were successfully completed surgery.The renal pressures in group A were adjusted duly and were lower than the that in group B in the whole process of operation.The average renal pressure in group A was 10.88 ± 5.91 1mmHg.The average renal pressure in group B was 20.10 ± 7.68 mmHg,the pressure control was difficult and unsteady.Conclusion The new type of UAS in the flexible ureteroscopic holmium laser lithotripsy (FURS) can make the renal pressure in surgery controllable and is safe for the FURS.

Clinical analysis and countermeasure research of bleeding during percutaneous nephrolithotomy by endoscopy and holmium laser / 局解手术学杂志

Objective To provide guidance for clinical prevention and treatment of bleeding during percutaneous nephrolithotomy( PC-NL) . Methods The clinical data of 1 012 patients with intraoperative and postoperative bleeding during percutaneous nephrolithotomy in our urology department were collected,hemorrhoea occurred on 36 cases,the occurrence rate was 3. 56%. The incidence,correlation with cal-culi,diabetes mellitus,examination item,technical operation were analyzed and compared. Results The incidence was 5. 52% for patients with complicated calculi. The incidence of delayed massive haemorrhage has been increased postoperatively in the diabetes mellitus patients. This incidence was 1. 81% for patients with preoperative examination. Along with the extension of time in carrying out technology,PCNL asso-ciated bleeding incidence decreased year by year. Conclusion The occurrence of haemorrhage associated with PCNL could be decreased by correctly handling complicated calculi,preoperative examination,keeping blood glucose homeostasis and improving the manipulation ability of operator.

Correlation between body mass index and insulin dose in type 2 diabetic patients with continuous subcutaneous insulin infusion / 实用医学杂志

Objective To investigate the correlation between BMI and insulin dose in diabetic patients after short-term continuous subcutaneous insulin infusion (CSII). Methods Three hundred patients with type 2 diabetes mellitus (T2DM) were enrolled and randomized into the normal weight (BMI < 23 kg/m2) group, overweight (BMI 23 ~ 25 kg/m2) group and obesity (BMI≥25 kg/m2) group. The metabolic and anthropometric parameters of each group were compared and the related factors which may influence insulin dose were analyzed. Results The insulin dose per weight in the overweight group or in the obesity groups was significantly lower than that in the normal weight group. Weight and BMI were negatively correlated with the insulin dose per weigh. Conclusions Differences of glycemia level , β-cell function and insulin resistance exist in Chinese type 2 diabetes patients with different BMI. The stratification of BMI should be considered before estimating the insulin dose by body weight in CSII therapy.

Analysis of null alleles for 17 Y chromosome-short tandem repeat loci in infertile males / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the characteristics of null allele for 17 Y-chromosomal short tandem repeats (Y-STR) loci in a group of infertile males.</p><p><b>METHODS</b>Two hundred thirty six infertile males featuring non-obstructive azoospermia and severe oligozoospermia were analyzed with an AmpFISTR ((R)) Yfiler (TM) kit. Deletions of azoospermia factor (AZF) fragments were confirmed with Y chromosome sequence-tagged sites (STSs) analysis using modified multiplex PCR.</p><p><b>RESULTS</b>The overall prevalence of AZF microdeletions was 16.95% (40/236). In the non-obstructive azoospermia group, 13 cases had AZFc deletion, 6 cases had AZFb+c deletion, 2 cases had AZFa deletion, 1 case had AZFb deletion. In the severe oligozoospermia group, 17 cases had AZFc deletion and 1 had AZFb deletion. No AZFa+b+c deletion was detected. Forty cases showed null alleles by scanning of the 17 STR loci. Deletions of DYS438, DYS439, DYS437, DYS389I and DYS389II were found in the 2 cases with AZFa deletion. In patients with AZFb deletion, DYS392 and DYS385a/b were found deleted. Deletions of DYS448 were detected in all of the 30 cases with AZFc deletion. Deletions of DYS392, DYS385a/b, and DYS448 were found in 6 cases with AZFb+c deletion.</p><p><b>CONCLUSION</b>Deletions of the Y chromosome AZF regions are associated with azoospermia and severe oligozoospermia. Null allele due to complete absence of AZFa, AZFb and AZFc regions may lead to misinterpretation in the sexual assault cases. Revealing the locus heterogeneity in male infertility population can enrich the Y-STR database and facilitate interpretation STR data in forensic DNA testing.</p>

The single nucleotide polymorphisms in the intron 1 of TSHR gene were associated with Graves' disease / 中华内分泌代谢杂志

Objective To investigate the association between single nucleotide polymorphisms in the intron 1 of thyroid stimnulating hormone receptor gene (TSHR) and Graves' disease (GD) in the Chinese Han population from Linyi city,Shandong Province.Methods A total of 1759 GD patients and 1740 control subjects were recruited for genotyping in TSHR intron 1 with genome-wide association study (GWAS) and Taqman probe technique.At the same time,serum thyroid hormone and TSH receptor antibody (TRAb) levels of patients were determined.Results Five SNPs were selected for further replication.The rs12101261 _T was significantly associated with GD risk ( OR=1.257,95％CI 1.137-1.390,P =8.23 × 10-6 ). Logistic regression identified that rs12101261 was an independent susceptibility locus of GD ( P=1.61 × 10-3 ).Furthermore,rs12101261 _T was strongly associated with GD ( OR =1.317,95％ CI 1.171-1.481,P=4.14× 10-4 ) in TRAb positive patients,but no association in TRAb negative patients ( OR=1.056,95％ CI 0.892-1.251,P=0.524 ).Serum TRAb concentration showed remarkable difference among three genotype groups of rs12101261.Conclusions Five SNPs in TSHR intron 1 are associated with GD.rs12101261 contributes to increased GD risk independently and is associated with serum TRAb level.

Clinical evaluation of using dental operating microscope combines ultrasonic root canal technique in removing fractured root canal instruments / 中国医师杂志

Objective To evaluate the clinic effect of dental operating microscope ( DOM) and ul-trasonic root canal technique in removing fractured root canal instruments .Methods Eight cases with frac-tured instruments located in different parts of root canals were treated with ultrasonic technique under DOM and the results were analyzed .The fractured instruments were divided into stainless steel file , Ni-Ti file and post according to material type .Results Twenty-seven fractured instruments were removed and the total success rate was71.1%.Among them, the success rate of stainless steel file was 71.4%,of Ni-Ti file was 37.5%and of post was 100%.No root canal perforation occurred .According to the place fractured instru-ments located , the success rate of stainless steel file located at upper 1/3 root canals was 100%,at middle 1/3 was 81.8%and at apex 1/3 was 33.3%;the success rate of Ni-Ti file located at middle 1/3 was 60%and at apex 1/3 was 0.In bent root canals , the success rate of stainless steel file located at bent part crown square was 86.7%and at bent part apex square was 20%;the success rate of Ni-Ti file located at bent part crown square was 60%and at bent part apex square was 0.Conclusion DOM combined with ultrasonic root canal technique in removing fractured instruments is effective , but the success rate is relatively low for Ni-Ti files and the cases fractured instruments located at root canal apex 1/3 or bent part apex square .

Diagnostic Ability of Laparoscopic Ultrasonography(LUS) for Urinary System Injury Induced by Laparoscopic Surgery in Animal Experimental Study / 中国微创外科杂志

Objective To appraise the diagnostic capability of laparoscopic ultrasonography (LUS) for urinary system injury induced by laparoscopic surgery in goats. Methods Animal models of different types of urinary system injury at different sites were established in five goats. One goat without injury was set as a negative control. LUS was used to examine the animals following randomization and single-blind principles. Results The sensitivity of LUS was 76.9% (10/13),specificity was 100%,and the false-negative rate was 23.1% (3/13). No false-positive results were detected in this study. The sham injury was accurately detected through LUS. The scan time of LUS ranged from 19 to 25 min with a mean of 21 min. Conclusions LUS is of value in the diagnosis of urinary system injury.

Application and Function Evaluation of Daily QA 3 in Quality Assurance of Radiation Oncology Physics / 医疗卫生装备

The quality assurance of radiation oncology physics is one important aspect of QA in tumor radiotherapy. The constitution and work principle of Daily QA3 are briefly introduced. The practical application and experiences in quality assurance of radiation oncology physics are shared. The performance of function is evaluated. On the whole, Daily QA3 can be used conveniently to meet the need of the QA of radiation oncology physics.

Endourological treatment of multiple complex bladder pathological changes with holmium laser / 中国微创外科杂志

Objective To evaluate the effectiveness of transurethral holmium laser treatment for multiple complex bladder pathological changes.Methods Clinical data of 507 cases of transurethral holmium laser resection for multiple complex bladder pathological changes under endoscope from 2001 to 2005 were retrospectively reviewed.A total of 17 types of bladder pathological changes were encountered,and 2 or more types of pathological changes occurred simultaneously in 111 cases,including 36 cases of 3 types of coexisting changes.Results Primary operation was performed in 505 patients,and two-stage operation was performed in 2 patients.The operation time was 5~35 min(mean,20 min).No obturator nerve reflex and other complications were seen.The operation was accomplished in 3 patients with cardiac pacemaker and 3 patients with coronary stent.Follow-up examinations in all the cases for 12~24 months revealed no relapse.Conclusions Transurethral holmium laser resection for multiple complex bladder pathological changes is safe and reliable.During the procedure,the degree of resection depth in the bladder wall can be precisely controlled.It can be used as the first choice for minimally invasive treatment of multiple complex bladder pathological changes.

Laparoscopic ultrasonography assisted laparoscopic ureterlithotomy / 中华泌尿外科杂志

ObjectiveTo evaluate the role of laparoscopic ultrasonography (LUS) in laparoscopic ureterolithotomy.MethodsLUS was utilized in laparoscopic ureterolithotomy for 7 cases of ureterolith to locate the ureter and stone.ResultsLUS demonstrated the relationship of the ureter to the adjacent structures and guided the dissection of the ureter in all the 7 patients and precisely localized the position of calculi.The stone could be touched by atraumatic clamps in 5 cases.LUS-demonstrated localizations of the ureter and calculi were verified on laparoscopic ureterotomy in the other 2.The mean operating time for LUS was 14 min (ranging from 9 to 20 min ).ConclusionsLUS is a real adjuvant means for locating the ureter and stone.