ObjectiveReport an operation of off-pump occlusion of trans-thoracic minimal invasive surgery (OPOTTMIS) adopted on the therapy of 92 patients suffered with simple congenital heart diseases (CHD) of atrial septal defect ( ASD),ventricular septal defect ( VSD ) and patent ductus arteriosus (PDA) and summarize the experiences.Methods The clinical data of 92 CHD patients administrated with OPOTTMIS in our hospital during the time of July 2008 and July 2011 were analyzed retrospectively.Moreover,the relevant literatures were reviewed and the different kinds of treatments and their outcomes of CHD were compared.These patients were 3-56 years old and weighed 8.0-54.5 kg,with male and female 38 and 54 cases,including ASD 52 cases,VSD 26 cases and PDA 14 cases,respectively.Within the initial 3 months of postoperation,all the patients were followed up and managed to take the re-examination with electrocardiogram and echocardiogram one time for each month,and 3 months later,at least one time for every 3-6 months.Results91 cases were performed the OPTTMIS procedure successfully,1 child with sieve-like ASD transferred to open-heart surgery and 1 adult( 1.1％ ) PDA died on the second day after operation for the pulmonary hypertension crisis.4 cases appeared mild residual shunt including 2 of ASD,1 of VSD and 1 of PDA.2 cases showed Ⅱ stage atrial ventricular block ( AVB ) within ASD and VSD,respectively.Also,post-operation hemothorax happened to 1 case ASD and 1 case VSD for the active bleeding of cardiac puncture site and the exploration and hemostatic operation were performed.91 (98.9％) patients were performed the OPOTTMIS operation successfully,the total complications within 72 hours was 6.5％ (6/92),respectively.There were no heavy complications happened during peri-operation such as cardiac rupture,infective endocarditis,stroke,hemolytic and thrombus formation.90 patients outcomes of 3 months to 4 years follow-up with the ECG and UCG examination showed that there were no Ⅲ stage atrioventricular block,no obvious occluder shift and broken and no moderate cardiac valve regurgitation,no evident blood flow restriction of left ventricular outflow tract and descending aorta,only found mild residual shunt within 2 cases ( VSD and PDA each) and heart expansion compared to pre-operation within 2 PDA patients.However,all the patients'heart functions were in grade Ⅰ to grade Ⅱ according to NYHA standard.ConclusionOPOTTMIS is a safe,feasible and effective option on simple congenital heart diseases.

Objective To explore the diagnostic significance of Xpert MTB/RIF in cerebrospinal fluid,and evaluate the application for early diagnosis of tuberculous meningitis(TBM).Methods Sixty cases of TBM and 30 cases of non-TBM patients were selected as our subjects.Xpert MTB/RIF and modified Ziehl-Neelsen stain were performed in cerebrospinal fluid.The detection rate of the system and the resistance of the patients were analyzed.Results Eleven cases were diagnosed as the positive cases in 60 cases with TBM,and 0 case was diagnosed as TBM in control group.Sensitivity and specificity of Xpert with TBM were 18.33％ and 100％,respectively.The difference of the two groups was statistically significant (P =0.014).The positive rate of definite group was 23.68％(9 cases),18.18％(2 cases) in probable group and 0％ in possible group,and the difference of the three groups was statistically significant(x2 =3.070,P＞0.05).The resistance rate was 36.36％ (4/11).Sensitivity of the modified Ziehl-Neelsen staín was 63.33％ (38/60).Eleven cases were detected positive by Xpert MTB/RIF,9 cases were positive with modified acid fast staining,and the positive rate was 18.33％,and the difference of the two methods was statistically significant (P =0.000).Conclusion Xpert MTB/RIF test is simple and rapid diagnostic method.The combination of Xpert MTB/RIF and modified ZiehlNeelsen stain will improve the efficiency of the early diagnosis of TBM.

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.

Objective:To explore the molecular pathogenesis of a family with hereditary factor Ⅴ (FⅤ) deficiency.Methods:All the exons, flanking sequences, 5′ and 3′ untranslated regions of the F5 of the proband, and the corresponding mutation sites of the family members were analyzed via direct DNA sequencing. The CAT measurement was used to detect the amount of thrombin produced. The ClustalX software was used to analyze the conservation of mutation sites. The online bioinformatics software, Mutation Taster, PolyPhen-2, PROVEAN, LRT, and SIFT were applied to predict the effects of mutation sites on protein function. The Swiss-PdbViewer software was used to analyze the changes in the protein model and intermolecular force before and after amino acid variation.Results:The proband had a heterozygous missense mutation c.1258G>T (p.Gly392Cys) in exon 8 of the F5, and a heterozygous deletion mutation c.4797delG (p.Glu1572Lys fsX19) in exon 14, which results in a frameshift and produces a truncated protein. Her grandfather and father had p.Gly392Cys heterozygous variation, whereas her maternal grandmother, mother, little aunt, and cousin all had p.Glu1572LysfsX19 heterozygous variation. The ratio of proband's thrombin generation delay to peak time was significantly increased. Conservation analysis results showed that p.Gly392 was located in a conserved region among the 10 homologous species. Five online bioinformatics software predicted that p.Gly392Cys was pathogenic, and Mutation Taster also predicted p.Glu1572Lys fsX19 as a pathogenic variant. Protein model analysis showed that the replacement of Gly392 by Cys392 can lead to the extension of the original hydrogen bond and the formation of a new steric hindrance, which affected the stability of the protein structure.Conclusion:The c.1258G>T heterozygous missense mutation in exon 8 and the c.4797delG heterozygous deletion mutation in exon 14 of the F5 may be responsible for the decrease of FⅤ levels in this family.

This article reported two fetuses diagnosed with Pallister-Killian syndrome (PKS). Amniotic fluid samples of one pregnant woman (case 1), with an abnormal result of non-invasive prenatal test, were analyzed by karyotyping and copy number variation-sequencing (CNV-seq), and samples of the other one (case 2), with a prenatal ultrasound of a lowered spinal conus and an enhanced echo of the renal cortex, were tested for CNV-seq. The chromosome karyotype of case 1 showed 47,XN,+mar[30]/46, XN[10]. CNV-seq results revealed three to four copies of repetition of the p13.33p11.1 segment of chromosome 12, suggesting 12p tetrasomy chimerism in both fetuses. The diagnosis of fetal PKS was confirmed through the combination of multiple technologies (ultrasound, chromosomal karyotype analysis, and CNV-seq). The two pregnancies were terminated after genetic counseling.

Objective:To design a new medication guidance tool for clinical intravenous therapy and nursing safety which covers all-dimensional information of intravenous therapy and nursing needs, and observe its application effects.Methods:(1) The treatment plans of common and frequently-occurring diseases in the priority departments of Class Ⅲ general hospitals in Jilin Province from January 2016 to December 2017 were retrospectively investigated and summarized to determine the index framework of intravenous therapy guidance tools. (2) The status quo survey, expert meeting and literature search were used to determine the content of the guidance tool and the drug information. (3) The expert consensus was used to determine the presentation of the guidance tool. (4) Totally 127 nurses in the departments were selected by convenient sampling for a non-contemporaneous controlled trial to compare the effects of the guidance tool after one month of application and nursing staff's level of knowledge about the risk of intravenous therapy.Results:(1) A guidance tool with 8 specialties, 73 treatment plans, and 326 commonly used drug information presented with specialties as an index and visualized signs was designed and developed, which covers relevant information such as requirements for infusion device materials, selection of infusion device, and requirements for inter-group tube flushing and sealing. (2) From May to June 2019, the nurses were tested before and after use, who were required to complete the specialist drug knowledge questionnaire within the specified time. The accuracy of the three dimensions of the physical and chemical properties of drugs, pharmacological effects, and safe use was 89.76%, 90.55%, and 95.27%, respectively, which were higher than that before use, and the difference was statistically significant ( P<0.05) . Conclusions:Based on the needs of clinical intravenous therapy and nursing safety medication, the novel guidance tool for intravenous therapy and safe medication nursing is designed and completed, which can effectively improve the nurses' ability to safely use intravenous medications and work efficiency and is worth promoting in clinical practice.

OBJECTIVETo investigate the characteristics of null allele for 17 Y-chromosomal short tandem repeats (Y-STR) loci in a group of infertile males.

METHODSTwo 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.

RESULTSThe 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.

CONCLUSIONDeletions 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.

Alleles ; Chromosome Deletion ; Chromosomes, Human, Y ; Humans ; Infertility, Male ; genetics ; Male ; Microsatellite Repeats

Objective To evaluate the applicability of the Chinese version of SF-36 ( v. 2 ) scale for evaluating the quality of life of hospitalized patients with chronic heart failure. Methods From September 2013 to December 2014, 159 patients with chronic heart failure(NYHA I-IV), who were older than 18 years, clear mind and well self-expressed, were selected as participants. Questionnaire surveys included general survey and SF-36(v. 2) scale. Internal consistency reliability, binary reliability and construct validity were all analyzed as indicators to evaluate SF-36 ( v. 2 ) scale. Results A total of 159 questionnaires were issued and 159 valid questionnaires were recovered. The eight dimensions of SF-36(v. 2) scale including physical function (PF), role-physical (RP), bodily pain (BP), general health (GH), social function (SF), vitality (VT), role-emotion(RE), and mental health (MH) score conversion were (41.57 ±24.86), (48.35 ±21.64), (69.18 ± 25. 68), (31. 28 ± 16. 01), (48. 90 ± 19. 53), (45. 05 ± 22. 76), (59. 43 ± 24. 31), (57. 55 ± 19. 03); the floor effects were 2. 5%, 4. 4%, 3. 1%, 4. 4%, 3. 1%, 6. 3%, 0. 6%, 1. 3%; the ceiling effects were 0. 0%, 3. 8%, 21. 4%, 0. 0%, 0. 0%, 1. 9%, 3. 1%, 0. 0%. The item-convergent validity all achieved the standard (r≥0. 4), and the total scaling success rate of item-convergent was 100. 00%; the dimensions′success rates of item-discriminant validity of RP, BP, RE and SF were all 100%, the rest of four dimensions were PF 95. 71%, GH 85. 71%, VT 89. 29%, MH 94. 29%, and the total success rate was 94. 69%. Internal consistency reliability ranged from 0. 738 to 0. 919; the binary reliability ranged from 0. 808 to 0. 963. Within factors analysis, two common factors were confirmed, separately representing physical health and mental health, altogether making contribution of 61. 66% cumulative variance. Conclusions As the revision of SF-36(v. 1), SF-36(v. 2) scale seemed more friendly in layout for questions and answers, the floor and ceiling effects significantly reduced. Additionally, it also shows good reliability and validity in the evaluation of quality of life of hospitalized patients with chronic heart failure, and the SF-36(v. 2) scale can be used to evaluate the quality of life ( QOL) of patients with chronic heart failure.