Application of single sperm sequencing for the preimplantation genetic testing of a Chinese family affected with Spinal muscular atrophy / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of single sperm sequencing in preimplantation genetic testing for monogenic disease (PGT-M).@*METHODS@#A Chinese couple with two children whom had died of Spinal muscular atrophy (SMA) and attended the Jiangxi Provincial Maternal and Child Health Care Hospital in June 2020 was selected as the subject. Eleven single sperm samples were isolated by mechanical immobilization and subjected to whole genome amplification. Real-time PCR and Sanger sequencing were used to detect the SMN1 variants in the single sperm samples. Genomic DNA of the wife, her parents and the husband, as well as one single sperm sample harboring the SMN1 variant and two single sperm samples without the variant were used for the linkage analysis. Targeted capture and high-throughput sequencing were carried out to test 100 single nucleotide polymorphisms distributed within 2 Mb up- and downstream the variant site. The haplotypes linked with the SMN1 variants were determined by linkage analysis. Blastocyst embryos were harvested after fertilizing by intracytoplasmic sperm injection. Cells from the trophoblasts of each embryo were biopsied and subjected to whole genome amplification and targeted capture and high-throughput sequencing to determine their carrier status. Chromosomal aneuploidy of wild-type embryos was excluded. An euploid embryo of high quality was transferred. Amniotic fluid sample was taken at 18 weeks of gestation to confirm the status of the fetus.@*RESULTS@#Genetic testing showed that the couple both had deletion of exons 7 ~ 8 of the SMN1 gene. The wife has inherited the deletion from her father, while the husband was de novo. The haplotypes of the husband were successfully constructed by single sperm sequencing. Preimplantation genetic testing has indicated that 5 embryos had harbored the heterozygous variant, 4 embryos were of the wild type, among which 3 were euploid. Prenatal diagnosis during the second trimester of pregnancy has confirmed that the fetus did not carry the deletion.@*CONCLUSION@#By single sperm sequencing and PGT-M, the birth of further affected child has been successfully avoided.

Analysis of the types of lateral meniscal injury in Schatzker type II tibial plateau fractures and its correlation with CT features of lateral plateau / 中华骨科杂志

Objective:To investigate the specific types of lateral meniscus injury in Schatzker type II tibial plateau fractures and its potential correlation with CT features of the lateral plateau.Methods:The data of 213 patients with Schatzker II tibial plateau fractures from August 2014 to June 2021 were retrospectively analyzed, including 132 males and 81 females, aged from 29 to 61 years, with an average of 44.9 years. All patients underwent arthroscopic evaluation of fracture reduction immediately after open reduction and internal fixation (ORIF). According to the actual situation during the operation, the types and locations of lateral meniscus injury were determined and the patients were divided into the meniscus injury group and non-injury group. By measuring lateral plateau depression (LPD) and lateral plateau widening (LPW) of the lateral tibial plateau on CT images, the correlation of which and lateral meniscus injury was analyzed. The optimal critical values of LPD and LPW for predicting lateral meniscus injury were obtained by drawing the relevant receiver operating characteristic (ROC) curves.Results:The meniscus injury group (109 patients) mainly showed injuries involving the mid-body and posterior horn of lateral meniscus (98.2%, 107/109) and LPD was 13.1±3.2 mm; while the LPD of 104 patients without meniscus injury was 9.1±3.0 mm with a statistical difference ( t=3.98, P<0.001). The LPW of meniscus injury group and non-injury groups was 8.0±1.3 mm and 6.7±1.6 mm, respectively, and the difference was statistically significant ( t=2.68, P=0.011). The optimal predictive critical point of LPD and LPW was 7.6 mm (sensitivity 90.3%, specificity 64.7%, area under the curve 0.834) and 7.3 mm (sensitivity 80.5%, specificity 58.8%, area under the curve 0.722). Conclusion:Schatzker II tibial plateau fractures combined with lateral meniscus injury is usually characterized by meniscus-joint capsule separation, rupture and longitudinal fracture. The mid-body and posterior horn of lateral meniscus injury is more likely to occur when LPD> 7.6 mm and/or LPW> 7.3 mm on coronal CT images.

Mechanism of transcutaneous electrical acupoint stimulation in improving the symptoms and gastric accommodation in patients with functional dyspepsia / 中华消化杂志

Objective:To investigate the therapeutic efficacy and mechanisms of transcutaneous electrical acupoint stimulation (TEAS) in the treatment of postprandial distress syndrome (PDS) in functional dyspepsia (FD).Methods:A double-blinded, randomized, controlled study was conducted. At Sir Run Run Shaw Hospital, Medical School Zhejiang University 40 patients aged 18-70 years old who met the Rome Ⅳ diagnostic criteria of PDS were prospectively enrolled. After informed consent, the patients were randomly assigned to TEAS group or sham-TEAS group. The patients in the TEAS group received transcutaneous electrical acupoint stimulation at acupoints Zusanli and Neiguan, and those in the sham-TEAS group underwent stimulation at other mimic acupoints for four weeks. The symptoms, gastric accommodation (initial satiety volume (ISV) and maximum tolerable volume (MTV), time of half gastric emptying of solid food ( T1/2) and heart rate variability (high frequency, low frequency and ratio of low frequency to high frequency) were compared between the two groups before and after treatment. The expression levels of inflammatory cytokines in duodenal mucosa were also evaluated by polymerase chain reaction in PDS patients and 24 healthy volunteers. Independent sample t test, Mann-Whitney U test and chi square test were used for statistical analysis. Results:A total of 26 PDS patients were enrolled in the study, 13 cases each in the TEAS group and sham-TEAS group. Between the patients of the two groups, there were no statistically significant differences in gender, age, or score of 36-item short form health survey (SF-36), score of self-rating anxiety scale (SAS), score of self-rating depression scale (SDS), score of dyspeptic symptom severity index (DSSI), ISV, MTV, T1/2 or heart rate variability indexes (high frequency, low frequency and ratio of low frequency to high frequency) before treatment (all P>0.05). After treatment, the DSSI score of TEAS group was lower than that of sham-TEAS group (13.5±5.3 vs. 19.9±9.3), the values of ISV and MTV were both higher than those of sham-TEAS group ((180.0±44.6) mL vs. (121.9±61.0) mL, (480.4±200.7) mL vs. (338.5±108.8) mL), and the differences were all statistically significant ( t=2.18, 2.77 and 2.24, all P<0.05). After treatment there was no statistically significant difference in T1/2 between TEAS group and sham-TEAS group ( P>0.05). There was no statistically significant difference in T1/2 between before and after treatment in patients of TEAS group ( P>0.05). After treatment, the high frequency increased (5.3±1.2 vs. 4.0±0.9) and the ratio of low frequency to high frequency decreased (1.0±0.2 vs. 1.3±0.2), and the differences were statistically significant ( t=-3.31 and 3.73, both P<0.01). The expression levels of interleukin 6 (IL-6) mRNA in mucosa of duodenal bulb and descending duodenum of PDS patients were both higher than that of healthy control group (0.68, 0.11 to 6.74 vs. 0.03, 0.02 to 0.25; 6.46, 1.35 to 12.62 vs. 0.86, 0.32 to 2.90), and the differences were statistically significant ( Z=-2.24 and -2.03, P=0.02 and 0.04). After TEAS treatment for four weeks, the expression of IL-6 mRNA in duodenal bulb mucosa decreased compared with that before treatment in TEAS group (0.04, 0.01 to 0.06 vs. 0.23, 0.09 to 3.66) and the difference was statistically significant ( Z=-2.07, P=0.04). Conclusions:TEAS can improve the gastric accommodation and dyspeptic symptoms in PDS patients. The mechanism may be related with the vagal pathway mediating and regnlating the expression of inflammatory cytokine IL-6 in duodenal bulb mucosa.

Longitudinal analysis of myopia and refractive errors screening results in adolescents in a community in Shanghai / 中国学校卫生

Objective@#To understand the longitudinal changes of refractive errors in adolescent myopia screening in the suburb of Shanghai, and to provide reference for targeted measures of myopia prevention and intervention.@*Methods@#By using the cluster sampling method, 1 346 students were selected from two primary schools in a town in the suburb of Shanghai. Physical development indicators and refractive examination parameters of non ciliary muscle paralysis, and uncorrected visual acuity in 2017 and 2020 were collected from the Shanghai adolescent refractive development file. Longitudinal change of spherical equivalent (SE) refractive were assessed. A linear regression model was used to examine the relationship between the rate of SE change with characteristics of the students.@*Results@#The average annual incidence of myopia was 16.36%, and the SE degrees of the left and right eyes of myopia students decreased by 225 degrees for three years. Girls (right eye Z=-4.33; left eye Z=-3.75, P<0.01), newly-onset myopia and persistent myopia (right eye Z=634.45; left eye Z=638.85, P<0.01) was a key for the rapid progress of refractive power.@*Conclusion@#The proportion of students with severe low vision is relatively high, and the apparent shifts toward more hyperopia in myopia students call for effective prevention and control programs based on changes in refractive to slow the progression of adolescent myopia.

Correction to: Microglia Interact with Neurons by Forming Somatic Junctions / 神经科学通报·英文版

The original version of this article unfortunately contained two misunderstandings.

Ultrasound-assisted minimally invasive percutaneous repair of acute closed Achilles tendon ruptures / 中华创伤杂志

Objective To investigate the clinical effect of minimally invasive percutaneous repair of acute closed Achilles tendon ruptures with intraoperative ultrasound assistance.Methods A retrospective case series study was made on 24 patients with acute closed Achilles tendon ruptures hospitalized between January 2013 and June 2015.There were 19 males and five females,aged 18-50 years (mean,30.5 years).MRI showed total Achilles tendon ruptures,and time from injury to operation was 1-3 days.All patients underwent minimally invasive percutaneous repair with high-frequency ultrasound assistance.Operation time and either intraoperative or postoperative complications were documented.At last follow-up,American Orthopedic Foot and Ankle Society (AOFAS) ankle-hindfoot score and Arner Lindholm system were used to evaluate ankle functional recovery.Results Operation time was 35-60 minutes (mean,42 minutes).No intraoperative injury to the major vessel and nerve occurred.Follow-up was conducted for 10-18 months (mean,14.5 months).No surgery-related complications were detected,including wound infection,skin necrosis and tendon reruptures.Ankle function was recovered to normal.AOFAS score were improved from preoperative 53-74 points [(61.5-± 6.7)points] to 91-100 points [(97.1 ± 3.2) points] at last follow-up (P ＜ 0.05).According to the Amer Lindholm system,the treatment outcome was excellent in 21 patients and good in three,with the excellence rate of 100％.Conclusion Ultrasound-assisted minimally invasive percutaneous technique improves the quality of tendon anastomosis,avoids injury to the sural nerve,minimizes the incidence rate of complications such as re-rupture,wounds infections or skin necrosis and hence is an ideal method for repair of acute closed Achilles tendon ruptures.

Evaluation of test methods for defecation disorders / 中华胃肠外科杂志

Defecation disorders is a common gastrointestinal disease characterized by slow colonic transit and/or paradoxical anal contraction. Gastrointestinal motility test plays an important role in the diagnosis, classification and treatment of defecation disorders. Anorectal manometry (ARM) provides comprehensive information about rectal and anal sphincter function, including resting anal sphincter pressure, squeeze anal sphincter pressure, the rectal and anal sphincter pressure changes during an attempted defecation, rectal sensory testing, rectoanal inhibitory reflex and rectal compliance. However, ARM can not diagnose the defecation disorders without the other tests. It should be combined with defecography and balloon expulsion test. Defecography demonstrates the anatomy and function of the anorectum and pelvic floor. Gastrointestinal transit test assesses regional and whole colon transit time. They are valuable methods in diagnosis of defecation disorders, but these tests have their respective advantages and disadvantages, and combined use should be carried out usually.

The effect of sodium salicylate on the expression of GABAa receptor subunits in cochlear spiral ganglion neurons / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate mRNA expression of GABAa receptor(GABAaR) subunits in the rat cochlear spiral ganglion neurons (SGN) and explore the effect of sodium salicylate (SS) on the expression of GABAaR subunits.@*METHOD@#The realtime fluorescent quantitative PCR (FQ-PCR) was used to detect mRNA expression of twelve GABAaR subunits in the newborn rat SGN and then investigate mRNA expression of GABAaR subunits after treatment with 5 mmol/L SS for 15 min, 30 min, 1 h, 3 h and 6 h in the primary culture SGN.@*RESULT@#(1) GABAaR subunits of α1-6, β1-3, and γ1-3 were detected in the SGN, and the expression of GABAaR subunits was lower than those in the cerebral cortex. In the subunit α family of GABAaR, the expression rank was α2>α3/α5>α4>a1>α6, and the expression of α3 and α5 had no difference (P>0. 05). In the subunit β family, the expression rank was β3>β2>β1. In the subunit γ family, the expression rank was γ1>γ2>γ3. (2) The expression of all subunits of GABAa receptor was obviously fluctuated excepting subunit α5 after treatment with SS. At 15 min post-SS, α1, α2 , β1 and γ1-3 were upregulated, and α3 was downregulated; At 30 min post-SS, α3, β1 and β3 were upregulated, and γ1 was downregulated; At 1 h post-SS, β2 was upregulated and γ3 was downregulated; At 3 h post-SS, β1 and β2 were upregulated, and α3 and γ2 were downregulated; At 6 h post-SS, αl, α3 ,β2, β3 and γ1 were upregulated, and α2, α4 and β1 were downregulated.@*CONCLUSION@#The mRNA of GABAaR was expressed in the rat SGN, and the expression of GABAaR subunits was lower in SGN than the cerebral cortex. SS could alter the GABAaR expression quantity in rat SGN; Most of the subunits expression were elevated obviously in the early post SS (15 min), followed by a slight fluctuation.

Advances in the research of chemotherapy for colorectal cancer / 国际外科学杂志

In recent years, chemotherapy is an important treatment for colorectal cancer, but the therapeutic effect of chemotherapy drugs is still poor, adverse reactions, and there are individual differences, studies have found that chemotherapy sensitizer in colorectal cancer is important, it is not only can improve the efficacy of chemotherapy drugs can reduce the toxicity of the neoadjuvant chemotherapy is to becomne a research focus in recent vears.Chemotherapy sensitizer will lead people to explore various combinations of different drugs and chemotherapy for the treatment of diseases and bring better outcomes, it will usher in a new era.The efficacy, mechanism, research status and safety of the colorectal cancer for enhancing its chemotherapy sensitivity of these representative drugs were reviewed in these article.

Effects of right ventricular septal pacing modes on acute cardiac function and ventricular synchronization in dogs with heart failure / 中国医师杂志

Objective To evaluate effects of right ventricular septal pacing modes on treatment of heart failure.Methods Twelve dogs with heart failure were performed in every dog at random,and the pacing modes employed in the test included right atrium-right ventricular apex (RVA),right atrium-right ventricular septal(RVS),and right atrium-biventricular (Bi-V) ; The pacing frequency was 180 times per minute.The results were measured before pacing and after 15 minutes when the pacing became stable in Color Doppler echocardiography,including left ventricular end-diastolic diameter (LVEDd),left ventricular ejection fraction (LVEF),interventricular mechanical delay (IVMD),interventricular septum and left ventricular posterior wall motion delay (SPWMD),and left ventricular 12-segment peak time standard deviation (Ts-SD).Results Right ventricular septal pacing mode:(1)Compared with parameter before pacing and RVA pacing,LVEDd,IVMD,SPWMD,and Ts-SD decreased and LVEF increased,and the difference was significant(P ＜0.05).(2)Compared with Bi-V pacing,LVEDd,IVMD,and SPWMDandTs-SD increased and LVEF decreased,and the difference was significant (P ＜ 0.05).Conclusions Right ventricular septal pacing could improve ventricular synchrony and cardiac function partly,and the effect was better than right ventricular apical pacing but less than biventricular pacing,also could not be a alternative models of cardiac resynchronization therapy for heart failure.

Study on the effects of different pacing modes of cardiac resynchronization therapy on dogs with heart failure / 中国医师杂志

Objective To evaluate advantages and disadvantages of different pacing modes of cardiac resynchronization therapy (CRT).Methods Twelve dogs with heart failure were performed in every dog at random,and the pacing modes employed in the test included right atrium-different sites of ventricle,and ventricular sites included right ventricular bifocal (RV-Bi),biventricular (Bi-V),left ventricular (LV).The pacing frequency was 180 times per minute,and the results were measured before pacing and after 15 minutes when the pacing became stable in Color Doppler echocardiography,including left ventricular enddiastolic diameter (LVEDd),left ventricular ejection fraction (LVEF),interventricular mechanical delay (IVMD),interventricular septum and left ventricular posterior wall motion delay (SPWMD),left ventricular 12-segment peak time standard deviation (Ts-SD).Results (1)Compared with before pacing,at the RV-Bi,Bi-V,and LV pacing modes,LVEDd,IVMD,SPWMD,and Ts-SD decreased,LVEF increased,the difference was statistically significant [(42.42 ± 3.94) mm vs (34.00 ± 4.07) mm,(34.17 ± 3.95)mm,(33.75 ±4.18)mm; (28.08 ±4.01)mm vs (13.00 ±3.64) mm,(11.95 ±2.54)mm,(12.08 ±3.51) mm; (75.00 ± 10.22)mm vs (51.75 ±9.84) mm,(20.66 ±7.41) mm,(20.75 ±7.56) mm; (25.08±4.16)mm vs (14.91 ± 3.31)mm,(7.50 ±4.24) mm,(7.41 ±3.39)mm;(32.91 ±4.46)mm vs (41.50 ±4.16)mm,(42.00 ±4.63) mm,(42.41 ±4.99)mm,P ＜0.05].(2)Compared with RV-Bi pacing mode,at the Bi-V,LV pacing modes,SPWMD and Ts-SD decreased,the difference was statistically significant(P ＜ 0.05); there was no significant difference among LVEDd,IVMD,and LVEF (P ＞0.05).(3)There was no significant difference in LVEDd,IVMD,SPWMD,Ts-SD and LVEF between LV and Bi-V pacing (P ＞ 0.05).Conclusions The hemodynamic effects of RV-Bi and LV pacing modes were similar to that of Bi-V pacing,and they can be used as CRT biventricular pacing alternative modes; however,the mechanisms of improving ventricular synchronization are not identical in above pacing modes.

Purification and characterization of a kringle-deficit mutant of human plasminogen with Arg-Gly-Asp tripeptide expressed in Pichia pastorsis / 生物工程学报

To obtain a recombinant human plasminogen (hPLG) with potential anti-platelet aggregation activity, we cloned the cDNA coding Pro544 to Asn791 of hPLG, a kringle-deficit derivative (hPLG-deltaK). The Pro559 in activation loop was then mutated into Asp559 to provide Arg-Gly-Asp (RGD) motif. The constructed pPICZalphaA-RGD-HPLG-deltaK plasmid was expressed in yeast Pichia pastoris GS115, which produced RGD-hPLG-deltaK about 0.160 g/L broth. After affinity chromatography, the purity of the recombinant protein reached above 90%. Western blotting test confirmed that it retained the immunological reaction capability as human PLG. Its urokinase activation rate in 24 hours and its fibrinolytic activity made no deference against native hPLG-deltaK (P=0.630, n=5). Importantly, after activation by urokinase, RGD-hPLG-deltaK showed a significantly higher platelet aggregation inhibition rate (Ri) (21.8% +/- 1.57%) than hPLG-deltaK (3.8% +/- 0.33%) (P=0.000, n=5). These results proved that we constructed an hPLG mutant with anti-platelet aggregation activity, which made a foundation for developing innovative thrombolytic drugs with multifunction.

Early evaluation of Wallis interspinous dynamic stabilization system in treatment of lumbar degenerative disease / 中国医师进修杂志

Objective To evaluate the early effect of Wallis interspinous dynamic stabilization system (Wallis system) in treatment of lumbar degenerative disease. Methods From January 2008 to Jan-uary 2009,21 patients(23 intervertebral spaces) with early lumbar disc herniation and lumbar spinal stenosis were treated with Wallis system. Four intervertebral spaces of L_(3-4) 19 intervertebral spaces of L_(4-5). Observed the time of total operation and implantation,the blood loss,and early recovery. The patients' visual analogue scale (VAS) and Oswestry disability index (ODI) scores were evaluated before and after operation. Results All patients were followed up for average (12.5 ± 0.4) months (7-18 months) after operation. The VAS and ODI scores at 7 days after operation dropped from (7.5 ± 1.5), (40.0 ± 2.0) scores before operation to (2.5 ± 0.5), (23.0 ± 1.5) scores (P < 0.01). Conclusion It is safe and easy to use Wallis system in the treatment of lumbar degenerative disease, with the advantage of mini-invasion and early effect.

Treatment of femoral head necrosis by core decompression and stem cells transplantation combined with Traditional Chinese Medicine / 中国基层医药

Objective To study curative effect of core decompression and autologous bone marrow stem cell transplantation combined with traditional Chinese medicine in the treatment of early femoral head necrosis (ANFH).Methods 30 patients with femoral head necrosis treated by different methods were divided into 3 groups: core decompression A group) 10 cases(12 hips) ;core decompression pus stem cells transplantation(B group) 10 cases(13 hips) ;core decompression pus stem cells transplantation combined with traditional Chinese medicine(C group) 10 ca-ses( 10 hips) ;The X-ray 、CT MRI、Harris score( HHS) .curative effect were observed.Results The phase of Ⅰ,Ⅱ,Ⅲ,in 3 groups didn't appear deformation and collapse at 3,6,12 months;The score of Harris after 12 months 93 points were higher than that preoperatively 57.5 points(χ 2= 5.81 ,P<0.05) ;The signal ratio of femoral head volume in MRI was 42% before treatment,disappearance of femoral head necrosis after treatment;Total curative effect of B,C group,werehighter than that Agroup(χ2 =3.81,χ2 =3.98,P<0.05).Conclusion The operative treatment of ANFH with core decompression and stem cells transplantation combined with traditional Chinese medicine had the advantage of minimal damage,simplicity,accuracy,and effectiveness.

Comparison of the curative effects of two operative methods for the treatrant of intertrochanteric fractures in aged / 中国基层医药

Objective To compare the curative effects of intertrochantefie fractures in aged by two operative methods. Methods 85 cases of elderly patients suffered from intertrechanteric fractures were retrospectively ana-lyzed. Out of the 85 cases,45 cases were treated with dynamic hip screw(DHS) and 40 cases were fixed with Gamma nails. The curative effects and complications were compared simultaneously. Results The total excellent rate was 83.5% in 85 patients,the rates of DHS and Gamma nails group were 77. 8% and 90% (X2 = 2. 84, P 0. 05), re-spectively. The operative time (66. 4 ± 19. 4)min in DHS group were less than the Gamma nail group (875 ± 25.5) rain (t=2. 451 ,P < 0. 05), but the length of surgical incision (19. 6± 5. 1)cm greater than the Gamma nail group (10. 3 ± 4. 7) cm(t = 2. 501, P < 0. 05). The complications of DHS group (11.1%) were significanfly higher than that of Gamma nail group(2. 5%) (X2 =3.94,P<0. 05). Conclusion As long as the physical condition can toler-ate,surgery recommend the use of DHS and Gamma nail surgical techniques in aged patients with intertrechanteric fractures.

Treatment of acute Lisfranc fracture-dislocations by cannulated screwfixation / 中国矫形外科杂志

[Objective]To explore the treatment effect of acute Lisfranc fracture-dislocations by cannulated screw fixation.[Method]From February 2001 to August 2005,21cases of acute Lisfranc fracture-dislocations were treated with open reduction and cannulated screw fixation.[Result] According to the AOFAS for mid foot,1 case scored 70 to 80,3 cases scored 80 to 90 and 17 cases scored 90 to 100.[Conclusion]Treatment effect of acute Lisfranc fracture-dislocations by cannulated screw fixation in early stage can lead to satisfactory reduction and clinical results,it is a satisfying method.