scRNA-seq reveals that origin recognition complex subunit 6 regulates mouse spermatogonial cell proliferation and apoptosis via activation of Wnt/β-catenin signaling / 亚洲男科学杂志(英文版)

The regulation of spermatogonial proliferation and apoptosis is of great significance for maintaining spermatogenesis. The single-cell RNA sequencing (scRNA-seq) analysis of the testis was performed to identify genes upregulated in spermatogonia. Using scRNA-seq analysis, we identified the spermatogonia upregulated gene origin recognition complex subunit 6 (Orc6), which is involved in DNA replication and cell cycle regulation; its protein expression in the human and mouse testis was detected by western blot and immunofluorescence. To explore the potential function of Orc6 in spermatogonia, the C18-4 cell line was transfected with control or Orc6 siRNA. Subsequently, 5-ethynyl-2-deoxyuridine (EdU) and terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) assays, flow cytometry, and western blot were used to evaluate its effects on proliferation and apoptosis. It was revealed that ORC6 could promote proliferation and inhibit apoptosis of C18-4 cells. Bulk RNA sequencing and bioinformatics analysis indicated that Orc6 was involved in the activation of wingless/integrated (Wnt)/ β-catenin signaling. Western blot revealed that the expression of β-catenin protein and its phosphorylation (Ser675) were significantly decreased when silencing the expression of ORC6. Our findings indicated that Orc6 was upregulated in spermatogonia, whereby it regulated proliferation and apoptosis by activating Wnt/β-catenin signaling.

A retrospective clinical analysis of 17 cases of renal cell carcinoma with Stauffer syndrome / 现代泌尿外科杂志

【Objective】 To explore the diagnosis, treatment and prognosis of renal cell carcinoma (RCC) patients with Stauffer syndrome. 【Methods】 The clinicopathological and follow-up data of 17 RCC patients with Stauffer syndrome who underwent operation during Sep.2014 and Aug.2019 were retrospectively analyzed. The survival was analyzed with Kaplan-Meier curve and log-rank, and related factors affecting the prognosis were determined with univariate and multivariate Cox regression model. 【Results】 The pathological results included clear cell RCC in 14 cases, papillary RCC in 2 cases, and poorly differentiated tissue in 1 case. The liver function recovered within 3 months after operation in 5 cases, within 6 months in 3 cases, within 1 year in 4 cases, and did not recover in 3 cases. During the follow up of 6 to 72 (average 54.1) months, the 1-, 3-, and 5-year survival rates were 88.2% (15/17), 76.5% (13/17) and 52.9% (9/17), respectively. Survival analysis showed that the cancer-specific survival (CSS) of RCC patients with Stauffer syndrome was low, and tumor size, AJCC stage, lymph node metastasis and Stauffer syndrome were predictors of poor prognosis. 【Conclusion】 The prognosis of RCC patients with Stauffer syndrome is poor, and early surgical intervention should be conducted. The liver function of most patients can return to normal gradually after surgery. Continuous examination of liver function has significant meaning for tumor recurrence, metastasis and prognosis.

Anesthesia management for patient with bipolar disorder complicated with hypothyroidism during oral surgery: a case report / 华西口腔医学杂志

Bipolar disorder is a major mental illness that is difficult to treat and has a high degree of recurrence. This article reports general anesthesia for oral surgery in a patient with bipolar disorder complicated with hypothyroidism. It also discusses the rational application of antipsychotic drugs and anesthetics with reference to the literature to improve the understanding of the disease and help patients with mental disorders complete the surgical treatment quietly and smoothly.

Diagnostic value of aldosterone to renin ratio calculated by plasma renin activity or plasma renin concentration in primary aldosteronism: a meta-analysis / 中华医学杂志(英文版)

BACKGROUND@#Since the diagnostic value of aldosterone to renin ratio (ARR) calculated by plasma renin concentration (PRC) or plasma renin activity (PRA) is still inconclusive, we conducted a meta-analysis by systematically reviewing relevant literature to explore the difference in the diagnostic efficacy of ARR calculated by PRC or PRA, so as to provide guidance for clinical diagnosis.@*METHODS@#We searched PubMed, Embase, and Cochrane Library from the establishment of the database to March 2021. We included studies that report the true positive, false positive, true negative, and false negative values for the diagnosis of primary aldosteronism, and we excluded duplicate publications, research without full text, incomplete information, or inability to conduct data extraction, animal experiments, reviews, and systematic reviews. STATA 15.1 was used to analyze the data.@*RESULTS@#The pooled results showed that ARR (plasma aldosterone concentration [PAC]/PRC) had a sensitivity of 0.82 (95% confidence interval [CI]: 0.78-0.86), a specificity of 0.94 (95% CI: 0.92-0.95), a positive-likelihood ratio (LR) of 12.77 (95% CI: 7.04-23.73), a negative LR of 0.11 (95% CI: 0.07-0.17), and symmetric area under the curve (SAUC) of 0.982, respectively. Furthermore, the diagnostic odds ratio (DOR) of ARR (PAC/PRC) was 180.21. Additionally, the pooled results showed that ARR (PAC/PRA) had a sensitivity of 0.91 (95% CI: 0.86-0.95), a specificity of 0.91 (95% CI: 0.90-0.93), a positive LR of 7.30 (95% CI: 2.99-17.99), a negative LR of 0.10 (95% CI: 0.04-0.26), and SAUC of 0.976, respectively. The DOR of ARR (PAC/PRA) was 155.52. Additionally, we conducted a subgroup analysis for the different thresholds (<35 or ≥35) of PAC/PRC. The results showed that the DOR of the cut-off ≥35 groups was higher than the cut-off <35 groups (DOR = 340.15, 95% CI: 38.32-3019.66; DOR = 116.40, 95% CI = 23.28-581.92).@*CONCLUSIONS@#The research results suggest that the determination of ARR (PAC/PRC) and ARR (PAC/PRA) was all effective screening tools for PA. The diagnostic accuracy and diagnostic value of ARR (PAC/PRC) are higher than ARR (PAC/PRA). In addition, within a certain range, the higher the threshold, the better the diagnostic value.

Application of DNA Microarray in Genetic Mutation Detection in Patients with Thalassemia / 中国实验血液学杂志

OBJECTIVE@#To perform dried blood spots thalassemia gene detection in patients with positive blood phenotypes by microarray technology, and evaluate its value in clinical detection.@*METHODS@#DNA samples were extracted from dried blood spots of 410 patients. Microarray technology was used to detect 3 deletion and 3 non-deletion types of α-thalassemia and 19 β-thalassemia point mutations which were common gene mutions in China.@*RESULTS@#There were 357 positive cases in all the 410 tested samples with the positive rate 87.07%, among which 299 cases (72.93%) carried deletion or point mutations of α-thalassemia, 29 cases (7.07%) carried point mutations of β-thalassemia and 29 cases (7.07%) carried gene mutations of complex αβ-thalassemia syndrome. The mutations of α-thalassemia were involved with --@*CONCLUSION@#The most common genetic mutations are --

Methodological Evaluation of Microarray in the Detection of α-Thalassemia / 中国实验血液学杂志

OBJECTIVE@#To proceed the clinical evaluation of DNA microarray for thalassemia gene detection.@*METHODS@#Peripheral blood samples of 166 thalassemia gene test subjects were collected and tested for thalassemia genes by microarray chip method and Gap-PCR method combined with PCR-reverse dot blot hybridization method according to double-blind control test. The specificity, sensitivity, positive predictive value, negative predictive value, and total coincidence rate of the microarray chip method were evaluated. When the two methods were inconsistent, multiplex ligation dependent probe amplification (MLPA) was used to verify the deletional α-thalassemia.@*RESULTS@#Compared with Gap-PCR method, specificity, sensitivity, positive predictive value, negative predictive value, Youden index, and total coincidence rate of microarray chip method was 100% (70/70), 96.88% (93/96), 100% (93/93), 95.89% (70/73), 0.969, and 97.59% (162/166), respectively, while compared with PCR-reverse dot blot hybridization method was 100% (125/125), 100% (41/41), 100% (41/41), 100% (125/125), 1, and 100% (166/166), respectively.@*CONCLUSION@#The microarray chip method for α-thalassemia gene detection shows the advantages of high specificity, sensitivity, and throughput.

Qualitative analysis of Gynostemma longipes for medicinal usage / 中国中药杂志

The Qinling-Daba Mountains area is the main producing areas of Gynostemma longipes for medicinal usage, and samples of wild whole plants in Pingli, Shaanxi Province and Qingchuan, Sichuan Province were collected. The ultra-high performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry(UHPLC-Q-TOF-MS~E) was used to profile the chemical compositions and analyze the similarities and differences of G. longipes samples in these areas. Based on the accurate molecular weight and fragment information obtained from Q-TOF-MS~E, the structures of the main components were identified by combining with the mass spectra, chromatographic behaviors of reference standards and related literatures. The results showed that the components of wild G. longipes from different places among Qinling-Daba Mountains area were similar. Forty-five chemical components were identified in the whole plant of G. longipes from Pingli, Shaanxi Province, including 43 triterpenoid saponins and 2 flavonoids which contain all main peaks in its fingerprint. The main components are dammarane-type triterpenoid saponins, such asgypenoside ⅩLⅨ, gypenoside A and its malonylated product of glycosyl.

Mechanism of Artesunate in Reversing Epithelial-mesenchymal Transition and Akt /Snail Signaling Pathway in Colorectal Carcinoma / 中国实验方剂学杂志

Objective:To investigate the effects of artesunate （ART） on epithelial-mesenchymal transformation （EMT） of colorectal cancer HCT-8 cells，and explore the effects of ART on cell migration，invasion，EMT ability， and protein kinase B （Akt）/Snail signaling pathway of colorectal cancer. Method:3-（4-5-Dimethylthiazol-2-yl）2，5-diphenyltetrazolium bromide （MTT） assay was used to detect the effects of ART at different concentrations on the proliferation of HCT-8 cells. Wound healing assay and Transwell assay were used respectively to detect the effects of ART on migration and invasion of colorectal cancer cells. The effects of different concentrations of ART on the distribution of EMT-related proteins vimentin and E-cadherin in HCT-8 cells were detected by double-immunofluorescent staining. The effects of ART on protein expression levels of EMT markers E-cadherin，vimentin and N-cadherin in HCT-8 cells and the expression of Akt1， p-Akt1， and Snail1 in the Akt/Snail signaling pathway were determined by Western blot. Result:The dose-dependent inhibitory effects of ART on the proliferation of HCT-8 cells were determined and the inhibition rate was calculated. A dose-response curve was plotted accordingly. The half-maximal inhibitory concentration （IC₅₀） of ART on HCT-8 cells was （16.67±1.95） μmol·L^-1. The following four groups were set up： a control group （0 μmol·L^-1），and low-， medium-， and high-dose ART groups（2， 10， 50 μmol·L^-1）. Compared with the results in the control group，ART inhibited the migration and invasion of HCT-8 cells（<italic>P</italic><0.05）. Specifically， the expression of E-cadherin in HCT-8 cells was significantly up-regulated，and that of vimentin and N-cadherin was significantly down-regulated （<italic>P</italic><0.05）. The expression levels of p-Akt1 and Snail1 were significantly decreased after ART treatment，thus inhibiting EMT（<italic>P</italic><0.05）. Conclusion:The findings of this study suggested that ART inhibited the EMT-triggered migration and invasion of HCT-8 cells presumedly by inhibiting the activation of the Akt/Snail pathway to reverse EMT.

Cathepsin B-responsive and gadolinium-labeled branched glycopolymer-PTX conjugate-derived nanotheranostics for cancer treatment

Multi-modal therapeutics are emerging for simultaneous diagnosis and treatment of cancer. Polymeric carriers are often employed for loading multiple drugs due to their versatility and controlled release of these drugs in response to a tumor specific microenvironment. A theranostic nanomedicine was designed and prepared by complexing a small gadolinium chelate, conjugating a chemotherapeutic drug PTX through a cathepsin B-responsive linker and covalently bonding a fluorescent probe pheophorbide a (Ppa) with a branched glycopolymer. The branched prodrug-based nanosystem was degradable in the tumor microenvironment with overexpressed cathepsin B, and PTX was simultaneously released to exert its therapeutic effect. The theranostic nanomedicine, branched glycopolymer-PTX-DOTA-Gd, had an extended circulation time, enhanced accumulation in tumors, and excellent biocompatibility with significantly reduced gadolinium ion (Gd

Effects of Rho-associated coiled-coil-forming kinase inhibitor Y27632 on mouse preantral follicles development in vitro / 解剖学报

Objective To investigate the effects of Rho-associated coiled-coil-forming kinase (ROCK) inhibitor Y27632 on the development of mouse preantral follicles in vitro. Methods The ovaries of 12.5-day-old mice were collected and single preantral follicle was isolated by mechanical method to culture Nunclon Sphera 96-well U-bottom 3D cell culture plate in vitro. Set up a control group and treated group containing Y27632, and evaluate the overall development of the follicles through follicular morphology, follicle diameter, the number of mature follicles, and changes in oocyte spindles. The expression of oocytes [bone morphogenetic protein 15(BMP 15), growth differentiation factor 9(GDF9)], granulosa cells [follicle stimulating hormone receptor (FSHR)] and apoptosis related genes (Bad, Bax and Caspase-3) were also assessed by the Real-time PCR technique. Meanwhile, the follicle viability was detected by follicular activity test during follicular development. Results Rock inhibitor Y27632 had no significant effect on the growth diameter and basic development indicators (follicle survival rate, cavity formation rate and maturation rate) (P>0.05). And abnormal spindle assembly occurred during follicle development in the control group. After 8 days of culture, compared with the control group, the granulosa cell-specific gene FSHR was up-regulated in the experimental group; As well as the oocyte-specific genes BMP 15 and GDF9 were up-regulated, while forkhead box 03(Fox03) was down-regulated; The apoptosis genes Bax, Bad and Caspase-3 were also showed down-regulated. And the granulosa cell apoptosis in the experimental group was significantly less than that in the control group. Conclusion ROCK inhibitor Y27632 can inhibit the apoptosis of granulosa cells and prevents the abnormal assembly of oocyte spindles to improve the quality of follicle development in vitro.

The construction and application of online open courses in Chinese colleges and universities--Taking the physiology course at Central South University of China as an example / 生理学报

Massive open online course (MOOC) is a new learning model, which integrates the progress of novel educational concepts and the breakthrough of information technology. MOOC uses new web-based tools and online-environments to deliver knowledge education and lecture classes in a new paradigm. In this paper, we firstly reviewed the achievements through four stages of the construction and development of online courses of physiology in China in the past 20 years. Then, taking the physiology MOOC at Central South University of China as an example, we introduced the specific practices and experiences to construct the online physiological open course, including the online open course-based offline and online flipped classroom teaching practice. Finally, we discussed several important issues during the construction and application of online open courses, aiming to provide practical information for other universities.

Research progress of endogenous bone marrow-derived mesenchymal stem cells in pulmonary fibrosis / 生理学报

Pulmonary fibrosis is a chronic, diffuse, interstitial lung disease involving the pulmonary interstitium, alveoli, and bronchioles caused by various causes. There is no effective treatment. Currently, exogenous bone marrow-derived mesenchymal stem cells (BM-MSCs) transplantation has attracted much attention as a new stem cell therapy in the treatment of pulmonary fibrosis. Less attention has been paid to the functional status of endogenous BM-MSCs during pulmonary fibrosis. Based on summary on the anti-pulmonary fibrosis effect of BM-MSCs and its mechanism, this review further discusses the abnormal changes of bone marrow function in animals with pulmonary fibrosis and the role of glutamate NMDA receptor overactivation in mediating the functional inhibition of endogenous BM-MSCs induced by pulmonary fibrosis. This will provide potential ideas for finding effective treatments for pulmonary fibrosis.

The metabolic networks of ferroptosis and links to lung diseases / 生理学报

Ferroptosis is a newly discovered non-apoptotic form of regulated cell death driven by iron-dependent lipid peroxidation. The present studies have shown that many metabolic processes and homeostasis are affected by ferroptosis. It is related to many lung diseases, including acute lung injury, chronic obstructive pulmonary disease and pulmonary fibrosis, etc. Currently, the research on ferroptosis is still in its infancy. Previous studies have confirmed that ferroptosis is regulated by a variety of genes, and the mechanism is complex, mainly involving iron homeostasis and lipid peroxidation metabolism. This review summarizes some regulation networks of metabolic processes associated with ferroptosis and discusses the roles of ferroptosis in the pathophysiological progression of many lung diseases. We expected to provide new ideas and references for the treatment of these diseases.

Case report of X-linked intellectual disability caused by DDX3X gene mutation and literature review / 中华实用儿科临床杂志

Retrospective analysis of the clinical data of a child with type 102 mental retardation caused by DDX3X gene mutation in the pediatric diagnosis of the First Affiliated Hospital of Zhengzhou University in April 2019.A 2 years and 3 months old girl with " delay for more than 1 year" , using second-generation sequencing technology for full exon detection, and the result is DDX3X gene 13 th exon c. 1463G>A hybridization mutation, this is a new mutation.There are no Chinese cases reported with DDX3X gene mutations, and there are 8 related cases were reported in foreign literature, all children have different degrees of intellectual disability.So patients with unexplained intellectual disability(especially female patients) need to be wary of the possibility of DDX3X gene mutation.

The Region of Interest in Boundary Calibration for Palatal Ru-gae Image of Forensic Identification / 法医学杂志

Objective To examine the method of least-square fitting for calibrating the palatal rugae boundary. Methods According to the distribution of the teeth, the feature points were selected; when they were fit, the boundary of the palatal rugae area was created, thereby constructing a mask. The mask was used to remove the part located outside the boundary and filter out the interference. Three samples were utilized for the ex-periments and analyses to come. Results To evaluate the quantitative results of the fitting curves, the correla-tion coefficients(r)of the samples and the relationship between the actual mean value and ideal mean value was obtained through six fitting processes. The differences between the actual mean and ideal mean were found to be significantly small (from 0.2857 to 2.5000) in the six fitting processes, with the range of r close to 1(from 0.9896 to 0.9995). Conclusion The effect of the cubic polynomial fitting method adopted in this study was stable.The proposed boundary calibration method can effectively locate the palatal rugae boundary and remove the interference area, further promoting the practice of forensic identification.

Quantitative analysis of occlusal changes in posterior partial fixed implant supported prostheses / 北京大学学报(医学版)

OBJECTIVE@#To analyze changes in occlusal force distribution and occlusal contact in posterior partial fixed implant-supported prostheses over time, and to provide reference for the precise occlusion design, adjustment and maintenance of implant prostheses.@*METHODS@#According to certain inclusion and exclusion criteria, patients were recruited from partially edentulous patients who had received implant-supported single crown or fixed bridge in the posterior region. The patients were collected since the implant prostheses settling and scheduled for the routine examination of implant prostheses and the occlusal examinations of complete dentition after 2 weeks, 3, 6, and 12 months. Occlusal examinations were taken with the articulating papers and T-Scan III (Tekscan, South Boston, USA), which could check and measure the occlusal contact condition of complete dentition. The occlusion time and relative occlusal forces of implant prostheses, mesial adjacent teeth and control teeth were recorded at the same time.@*RESULTS@#Thirty-seven posterior partial fixed implant prostheses in 33 patients (17 women and 16 men, aged 24-70 years) were followed up for 3-12 months (average 8.3 months). At baseline, the relative occlusal forces of implant prostheses were significantly lower than those of the corresponding control teeth (P<0.001). However, after 3 months, the relative occlusal forces of implant prostheses had significantly increased (P<0.05), while control teeth decreased significantly (P<0.05), resulting in no statistical significance between them. The implant prostheses occlusion time ratio also increased significantly from 2 weeks to 3 months (P<0.05). There was no significant difference from the third month to the sixth month, or from the sixth month to the twelfth month (P>0.05).@*CONCLUSION@#Light contact and time-delayed occlusion of posterior implant prostheses changes significantly in the first three months after settling implant prostheses. These changes mainly include the advance of the time point of the implant prosthesis to start the occlusion contact, and the increase of the occlusal force of the implant prosthesis. The occlusion of posterior implant prostheses should be carefully monitored at end of the third month follow-up clinically.

Clinical evaluation of the effect of reducing tooth sensitivity caused by in office bleaching using dentifrices / 北京大学学报(医学版)

OBJECTIVE@#To evaluate tooth sensitivity and the efficacy of in-office bleaching when using different desensitizing dentifrices.@*METHODS@#In total, 150 eligible individuals were recruited and randomized by computer-generated block randomization into three groups: potassium nitrate group (n=50), stannous fluoride group (n=50), and placebo group (n=50). Participants were asked to use a desensitizing dentifrice and toothbrush 15 days prior to and after the in-office bleaching. Each patient received a one-session in-office bleaching with 35% hydrogen peroxide whitening gel. The in-office bleaching included three 15 min operations, totally 45 min. Tooth sensitivity was evaluated by 100 mm visual analog scale (VAS) scores immediately 0 d and 1 d, 2 d, 7 d, 14 d, and 30 d after in-office bleaching. In total, 48 (96%), 45 (90%), and 46 (92%) individuals in the potassium nitrate, stannous fluoride, and placebo groups, respectively, completed the follow-up observations.@*RESULTS@#Data were analyzed using analysis of covariance (ANOVA). For tooth sensitivity produced by in-office bleaching, the mean VAS values of the three groups were analyzed. At 0 d immediately after surgery, the mean VAS of the potassium nitrate group was 39.22±15.08, which was lower than that of the stannous fluoride group (47.18±12.59) and the placebo group (52.53±14.05), and the difference was statistically significant (P<0.05). The results of the stannous fluoride group and the placebo group were similar, and the difference was not statistically significant (P>0.05). On 1 day postoperatively, the mean VAS of the potassium nitrate group was 38.27±16.52, which was lower than that of the stannous fluoride group (44.69±14.92) and the placebo group (44.45±13.54), P<0.05. The results of the stannous fluoride group and the placebo group were similar, and the difference was not statistically significant (P>0.05). The mean values of VAS were similar 2 d, 7 d, 14 d and 30 d after operation, and the difference was not statistically significant (P>0.05).@*CONCLUSION@#Compared with the stannous fluoride group and the placebo group, the use of potassium nitrate desensitizing toothpaste 15 days before surgery can effectively alleviate the tooth sensitivity during and after in-office bleaching.

Effects of Recombinant Human Thrombopoietin on Funtion of T and B Lymphocyte in Prieary ITP Patients / 中国实验血液学杂志

OBJECTIVE@#To study the changes of Th1 and Th2 type cytokines and B lymphocyte level and their clinical significance in idiopathic thrombocytopenic purpura (ITP) patients treated by recombinant human thrombopoietin (rhTPO).@*METHODS@#The peripheral blood levels of Th1 and Th2 type of cytokines and B lymphocyte were estimated by CBA in 48 patients with ITP, and compared with those in 35 control persons of heath examination.@*RESULTS@#Before treatment, the levels of Th1 type cytokines and B lymphocyte in 48 patients with ITP were higher, and the levels of Th2 type cytokines were lower than those of healthy controls (P＜0.05). The levels of the peripheral blood CD19 cells, CD5CD19 cells, IL-2 expression negatively correlated with Plt counts in ITP patients (P＜0.05), the levels of IL-4 positively correlated with Plt counts (P＜0.05). After treatment with rhTPO, the levels of Th1 type cytokines and B lymphocytes in 48 patients with ITP significantly decreased, and the levels of Th2 type cytokines significantly increased in comparison with those before treatment (P＜0.05).@*CONCLUSION@#Peripheral blood Th1 and Th2 type cytokines express abnormally and level of B lymphocytes increases significantly in ITP patinets. The disease severity correlats with the levels of Th1 and Th2 type cytokines and B lymphocytes. Platelets increase after rhTPO treatment, showing that rhTPO can play an important role in regulating Th1 and Th2 immunologic balance and B lymphocyte level in ITP patients.

Application of next-generation sequencing in the molecular diagnosis of Duchenne muscular dystrophy / 中国当代儿科杂志

The purpose of this study is to analyze the family's clinical data of 22 children who were given an intended clinical diagnosis of Duchenne muscular dystrophy (DMD), and to explore the clinical value of next-generation sequencing (NGS) in the molecular diagnosis of DMD. The probands were simultaneously tested by NGS for a gene panel associated with hereditary neuromuscular disease and multiplex ligation-dependent probe amplification (MLPA) for the Dystrophin gene. The exon deletion/repetition mutations of the Dystrophin gene determined by both methods were compared and the point mutations of the Dystrophin gene were verified by Sanger sequencing. Dystrophin gene mutations were found in all the 22 probands, including 14 exon deletion/repetition mutations and 8 point mutations/minor variations. The results of MLPA detection were consistent with those of NGS. The results of Sanger sequencing showed that the point mutations and minor variations determined by NGS were correct. One missense mutation (c.6290G>T), 1 nonsense mutation (c.3487C>T) and 4 minor deletion-induced frameshift mutations (c.1208delG, c.7497_7506delGGTGGGTGAC, c.9421_9422delAA and c.8910_8913delTCTC) had not been reported in the Human Gene Mutation Database, and thus were considered as novel mutations of the Dystrophin gene. The results of this study showed that NGS can detect variations in the Dystrophin gene, including exon deletion/repetition, point mutation, minor deletion and intron mutation. Therefore, NGS is of certain clinical value in the molecular diagnosis of DMD and is worthy of recommendation.

Negative pressure pulmonary edema secondary to laryngospasm: a case report / 华西口腔医学杂志

Negative pressure pulmonary edema is a rare complication of general anesthesia. This paper presents a case of acute negative pressure pulmonary edema that occurred during general anesthesia resuscitation. The patient is a young male that underwent bimaxillary surgery under general anesthesia. Laryngospasm spasm ensued after extubation. The treatment for laryngeal spasm retained the smoothness of the nasopharyngal airway, and the pulse oxygen saturation rapidly decreased after anesthesia resuscitation. Pink foam sputum was sucked out from the cavity due to respiratory shortness from mouth and nose. Highly concentrated oxygen was immediately given to assist ventilation and as a symptomatic support (diuretics, hormones), and the condition evidently improved. The diagnosis and treatment of this case suggest that when acute pulmonary edema occurs during general anesthesia resuscitation, negative pressure pulmonary edema should be highly suspected. The first line of treatment is to relieve respiratory tract obstruction. Supplying highly concentrated oxygen to assist positive pressure ventilation is an effective treatment to alleviate pulmonary edema.