Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development / 中华儿科杂志

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.

Organoids derived from the digestive system and their perspective applications in exercise physiology / 生理学报

Organoid, formed from organ-specific cells, is a group of self-renewal and self-organizing cells growing in a 3-dimensional structure. With the recent progress on microenvironment regulation, stem cell differentiation and organ development, organoids have been constructed and used as promising tools for a wide range of multidisciplinary biomedical applications. Exercise disrupts the internal environment homeostasis, which brings a series of physiological alterations to the digestive system. The current animal or human models are necessary, but not sufficient to monitor the fluctuating microenvironment of gastrointestinal epithelial cells or hepatocytes during exercise. This review described the construction and application of digestive system organoids, as well as the effect of exercise on the microenvironment of intestinal epithelial cells and hepatocytes. The perspective applications of digestive system organoids in exercise physiology were also stated. Using organoid technologies, the possible mechanisms of the exercise-induced dynamic physiological changes would be explored in a new dimension.

Efficacy of dexmedetomidine mixed with ropivacaine for brachial plexus block in patients undergoing upper limb surgery: a meta-analysis / 中华麻醉学杂志

Objective To systematically review the efficacy of dexmedetomidine mixed with ropivacaine for brachial plexus block in the patients undergoing upper limb surgery.Methods Medline,PubMed,Embase,Web of Science,Weipu,Wanfang,Zhiwang databases were searched for randomized controlled trials involving the efficacy of dexmedetomidine mixed with ropivacaine for brachial plexus block in patients undergoing upper limb surgery from the date of database establishment up to July 2017,and the trials were published in Chinese or in English.Evaluation indexes included onset time and duration of sensory and motor blocks and analgesia time when used for brachial plexus block.Trials were selected and data were extracted independently by 2 investigators,and meta-analysis was conducted using the Cochrane Collaboration's RevMan 5.3 software.Results Twelve randomized controlled trials were included in our metaanalysis.Compared with control group,the onset time of sensory and motor blocks was significantly shortened,the duration of sensory and motor blocks was prolonged,and analgesia time when used for brachial plexus block was prolonged in dexmedetomidine group (P＜0.01).Conclusion Dexmedetomidine mixed with ropivacaine can be effectively used for brachial plexus block in the patients undergoing upper limb surgery.

The effects of different values of PEEP on heart index, stroke volume variation and oxygen transport index in patients monitored by FloTrac/Vigileo system / 天津医药

Objective To investigate the effects of different values of PEEP on cardiac index (CI), stroke volume variation (SVV) and oxygen transport index (DO2I) in patients monitored by FloTrac/Vigileo system, and to provide some references for the hemodynamic management and improvement of oxygenation for patients. Methods Sixty patients scheduled for elective television (TV) auxiliary thoracoscope radical operation for esophageal cancer were included in this study. Data of CI, SVV and DO2I were observed by the FloTrac/Vigileo system. Changes of CI, SVV and DO2I were recorded after anesthesia induction and turn left side (T0), artificial pneumothorax with 0 PEEP after 5 minutes (T1), artificial pneumothorax with 5 PEEP after 5 minutes (T2), artificial pneumothorax with 10 PEEP after 5 minutes (T3), and artificial pneumothorax with 15 PEEP after 5 minutes (T4). Results Compared with T0, CI decreased and SVV increased significantly at T1, T2, T3 and T4(P<0.05). Compared with T1, CI decreased and SVV increased at T4. DO2I increased at T2 and T3 compared with that of T1(P<0.05). Conclusion PEEP may have a certain influence on CI and SVV in the process of operation. The values of 5-10 PEEP can significantly improve oxygenation and have a less influence on hemodynamics, which can be appropriately used in clinical care.

Effect of operation position change on heart index and stroke volume variation in patients monitored by FloTrac/Vigileo system / 重庆医学

Objective To investigate the effect of different operation positions on cardiac index (CI) and stroke volume variation (SVV) in the patients monitored by FloTrac/Vigileo system to provide some references for the hemodynamic management and liquid treatment of the patients.Methods Sixty patients scheduled for elective TV auxiliary thoracoscope radical operation of esophageal cancer.The CI and SVV changes were observed by using the FloTrac/Vigileo system.CI,SVV and CVP were recorded at 5 min after anesthesia induction (T0),5 min after converting to the position of head low feet high (T1),5 min after converting to the position of head high feet low (T2).Results Compared with T0,CI at T1 and T2 was decreased(P＜0.05);compared with T0,SVV at T1 was decreased and CVP was increased;SVV at T2 was increased and CVP was decreased(P＜0.05).Conclusion The operation position change may have a significant impact on the patient's CI,SVV and CVP.Focusing on the corresponding change can provide some references for the intraoperative hemodynamic management and liquid treatment.

Expression of serum sHLA-G in patients with hemophagocytic syndrome and its clinical significance / 中国实验血液学杂志

In order to investigate the expression of serum sHLA-G in hemophagocytic syndrome (HPS) patients and to evaluate its clinical significance, the clinical data of HPS patients in Capital Medical University Beijing Friendship Hospital during the period from September 2008 to July 2010 were collected. They were divided into infection-associated HPS, tumor-associated HPS and rheumatological disease-associated HPS according to cause of diseases. The serum concentration of sHLA-G in HPS patients and 25 healthy controls was measured by enzyme-linked immunosorbent assay (ELISA), the correlations between sHLA-G level and laboratory indicators were analyzed. The results showed that the level of serum sHLA-G in HPS patients was significantly higher than that in healthy controls (p = 0.003), but the difference was not statistically significant between HPS groups of different causes (p = 0.233). The positive correlation of sHLA-G level in HPS patients with platelet count was found, but there was no positive correlation of their sHLA-G levels with WBC, Hb, Plt, ALT, AST, LDH, Alb, TBil, DBil, IBil, Cr, BUN, TG, fibrinogen and ferritin levels detected on same day. It is concluded that the the increase of serum sHLA-G levels in HPS patients may be caused by different factors such as infection, tumor, T cell activation and over-stimulation of several cytokines. sHLA-G can inhibit NK cell activity, resulting in formation of abnormal immune storm, and may be play a role in the pathogenesis of HPS.

Serum levels of tumor necrosis factor α and interferon γ in patients with hemophagocytic syndrome and its clinical significance / 中国实验血液学杂志

In order to explore the serum levels and clinical significance of tumor necrosis factor alpha (TNF-α) and interferon gamma (IFN-γ) in patients with hemophagocytic syndrome (HPS). The clinical data of HPS patients in Capital Medical University Beijing Friendship Hospital from October 2008 to October 2010 were collected. The serum concentration of TNF-α and IFN-γ in HPS patients and 20 healthy controls was measured with enzyme-linked immunosorbent assay (ELISA). The correlations between the levels of TNF-α and primary disease were analyzed, the levels of hemoglobin, ferritin, triglyceride, NK cell activity and sCD25 were detected on the same day, the correlations between the concentrations of TNF-α and IFN-γ and these laboratory indicators were analyzed. The results indicated that the serum levels of TNF-α and IFN-γ in 30 cases of HPS was higher than that in control group (p < 0.05, p < 0.01); the difference of TNF-α concentration was statistically significant in rheumatism-related and tumor-related HPS groups(p = 0.04), the level of TNF-α in HPS patients showed negative correlation with hemoglobin. It is concluded that the high levels of TNF-α and IFN-γ in HPS patients may play certain roles in the pathogenesis and progress of HPS. These data indicated that the high level of TNF-α may be the main factor for anemia in patients with HPS.

Influence of Human Cytomegalovirus Infection during First Trimester on Neurobehavior of Mice / 实用儿科临床杂志

Objective To explore the neurobehavioral change of mice from dams with human cytomegalovirus(HCMV) infection during first trimester. Methods Eight-week-old fertilized female Kunming mice were randomly divided into infected group and control group.On the 4th gestation day mice in infected group were injected intraperitoneally with 0.5 mL HCMV (1?10-6 50 percent of tissue cultured infective dose),and those in control group were injected intraperitoneally with 0.5 mL supernatant of cultured human fibroblast.Caesarean birth operation was performed on 3 randomly chosen fertilized mice before delivery. Fetuses were observed and their brain tissue were collected and analyzed under light and electron microscope separately.PCR test was used to determine HCMV pp65 antigen of offspring′s sera.Neurobeha-vioral test such as Morris Water Maze and Lashley Ⅲ Water Maze were performed on offspring mice of 6-7 weeks old.Results Compared with control group,the pathological changes such as degeneration,necrosis,and nucleus disappearance of nerve cells and giant cells were found in offspring′s brain of mice in infected group under light microscope. Under electron microscope,swelling of nerve cells and spherical virus particle in the cytoplasm were found in the brain of mice in infected group. HCMV pp65 antigen was detected in 7 offspring mouse′s se-rum in infected group.Offspring′s swimming time and speed were(30.21?12.74) s and(19.10?1.90) cm/s in infected group,while those in control group were (11.87?3.62) s and (23.21?1.02) cm/s by Morris Water Maze test,there were significantly differences between 2 groups (Pa

Significance of Detection of Levels of Anti-Endomysial Antibody Immunoglobulin A,Immunoglobulin G in Diagnosis of Celiac Disease / 实用儿科临床杂志

Objective To investigate whether iceberg phenomenon of celiac disease(gluten-sensitive enterpathy,GSE) exists among the people of China,and study on the levels of anti endomysial antibody(AEA)IgA and IgG,which provide the foundation for studying functional genome of GSE.Methods One hundred and thirty-six cases liability crowd,which showed part symptoms of GSE,were selected as case group and 50 cases of normal were selected as control group.Enzyme-linked immunosorbent assay was used to detect the level of 2 groups and positive rate of AEA was compared between 2 groups.Results The levels of AEA IgA and IgG in case group(17.69?2.97,15.23?2.36)were significantly higher than those of control group(11.65?2.75,12.25?1.86),especially 2 strong positive cases were found in case group.Conclusion Iceberg phenomenon of celiac disease exists in the people of China,which means many celiac disease patients have not been diagnosed and it need us far more research.