Analysis of lysosomal enzyme activity and genetic variants in a child with late-onset Pompe disease / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features, lysosomal enzymatic [acid α-glucosidase (GAA)] activities and genetic variants in a child with late-onset Pompe disease (LOPD).@*METHODS@#Clinical data of a child who had presented at the Genetic Counseling Clinic of West China Second University Hospital in August 2020 was retrospectively analyzed. Blood samples were collected from the patient and her parents for the isolation of leukocytes and lymphocytes as well as DNA extraction. The activity of lysosomal enzyme GAA in leukocytes and lymphocytes was analyzed with or without addition of inhibitor of GAA isozyme. Potential variants in genes associated with neuromuscular disorders were analyzed, in addition with conservation of the variant sites and protein structure. The remaining samples from 20 individuals undergoing peripheral blood lymphocyte chromosomal karyotyping were mixed and used as the normal reference for the enzymatic activities.@*RESULTS@#The child, a 9-year-old female, had featured delayed language and motor development from 2 years and 11 months. Physical examination revealed unstable walking, difficulty in going upstairs and obvious scoliosis. Her serum creatine kinase was significantly increased, along with abnormal electromyography, whilst no abnormality was found by cardiac ultrasound. Genetic testing revealed that she has harbored compound heterozygous variants of the GAA gene, namely c.1996dupG (p.A666Gfs*71) (maternal) and c.701C>T (p.T234M) (paternal). Based on the guidelines from the American College of Medical Genetics and Genomics, the c.1996dupG (p.A666Gfs*71) was rated as pathogenic (PVS1+PM2_Supporting+PM3), whilst the c.701C>T (p.T234M) was rated as likely pathogenic (PM1+PM2_Supporting+PM3+PM5+PP3). The GAA in the leukocytes from the patient, her father and mother were respectively 76.1%, 91.3% and 95.6% of the normal value without the inhibitor, and 70.8%, 112.9% and 128.2% of the normal value with the inhibitor, whilst the activity of GAA in their leukocytes had decreased by 6 ~ 9 times after adding the inhibitor. GAA in lymphocytes of the patient, her father and mother were 68.3%, 59.0% and 59.5% of the normal value without the inhibitor, and 41.0%, 89.5% and 57.7% of the normal value with the inhibitor, the activity of GAA in lymphocytes has decreased by 2 ~ 5 times after adding the inhibitor.@*CONCLUSION@#The child was diagnosed with LOPD due to the c.1996dupG and c.701C>T compound heterozygous variants of the GAA gene. The residual activity of GAA among LOPD patients can range widely and the changes may be atypical. The diagnosis of LOPD should not be based solely on the results of enzymatic activity but combined clinical manifestation, genetic testing and measurement of enzymatic activity.

Clinical characteristics and prognosis of Omicron epidemic in Guang’an / 中国胸心血管外科临床杂志

@#Objective     To analyze the clinical characteristics of the Guang’an Omicron epidemic and summarize the management experiences and practices in pandemic prevention and control of major infectious diseases. Methods     Retrospective analysis was performed on patients infected with coronavirus disease (COVID-19), afterwards treated and observed in the isolation ward of Guang’an People’s Hospital and the shelter of Guang’an City from May 9 to June 26, 2022. The characteristics of patients at different age stages and the related factors affecting the severity, re-positive and negative conversion was analyzed. Results     Finally 1 278 patients were collected, including 508 males and 770 females, with an average age of 41.3±22.6 years. Among them, 1 054 patients were asymptomatic carriers. The overall severe rate was 0.86%, the severe rate of the high-risk group was 3.06%. The median negative conversion time was 10.0 days and re-positive rate was 7.36%. Patients aged>60 years were 2.589 times more likely to have a longer negative conversion time than those aged≤60 years (95%CI 1.921-3.489, P<0.001). Conclusion     The clinical characteristics of Guang’an COVID-19 epidemic are mainly that the elderly with high risk factors are more likely to develop severe cases, have longer clearance time, and re-positve is more likely to occur.

Cerebral amyloid angiography: pathology, neuroimaging and clinical features / 中华老年医学杂志

Cerebral amyloid angiopathy(CAA)is a small vascular disease caused by the deposition of amyloid protein in the vascular wall, mainly involving the cortical and leptomeningeal arterioles and capillaries.The main pathological and clinical manifestations are lobar hemorrhage, cerebral microbleeds, cortical superficial siderosis, subarachnoid hemorrhage, cortical infarction, white matter abnormalities, CAA-related autoimmune meningoencephalitis and dementia.Patients with CAA are prone to spontaneous cerebral hemorrhage.For CAA patients, the anticoagulant therapy for prevention of cardioembolism of artrial fibrillation or intravenous thrombolytic therapy for acute ischemic stroke may increase the chance of cerebral hemorrhage and lead to aggravation of the disease.Therefore, the risk of hemorrhage associated with CAA needs to be evaluated before antithrombotic therapy.CAA-related inflammation is a critical condition.Corticosteroids and immunosuppressive agents are effective treatments.Early diagnosis and treatment can significantly improve the prognosis.

Application of blended learning in Clinical Biochemistry / 中华医学教育探索杂志

Objective:To explore the role of blended learning in the undergraduate teaching of Clinical Biochemistry. Methods:The Batch 2017 medical laboratory technology undergraduates ( n=134) were selected as research objects, and the effect and opinions of blended learning were statistically analyzed by questionnaire survey and online-offline platform data. SPSS 23.0 was used to conduct rank sum test. Results:The application of blended learning in the Clinical Biochemistry teaching affected the learning effect in an all-round way. The average score increased from 70 (64, 76) to 79 (71, 85), with statistical difference ( Z=6.69, P<0.001). Conclusion:The combined application of blended learning, problem-based learning, flipped classroom and formative assessment is conducive to teaching students in accordance with their aptitude and cultivating students' clinical thinking ability.

Exploration and practice of integrated teaching of "organ system-centered" urogenital system / 中华医学教育探索杂志

In order to meet the needs of contemporary society for medicine and cultivate high-quality compound medical talents, Chongqing Medical University has carried out the "organ system-centered" urogenital system integration curriculum reform. In the practice of integrated curriculum teaching, students have deepened their systematic understanding of medical knowledge, enhanced their enthusiasm and initiative in classroom learning, cultivated students' logical thinking ability, and improved students' innovative scientific research ability, by reorganizing the curriculum system, rewriting textbooks, improving the teaching environment, forming a teaching team, and reforming teaching methods, which laids the foundation for the further improvement of the medical curriculum.

Role of intestinal flora and 5-HT in depression- and anxiety-like behaviors in mice exposed to PM2.5 / 环境与职业医学

Background Some studies have shown that PM2.5 exposure is closely related to central nervous system diseases that lead to cognitive dysfunction and change the composition of intestinal flora. However, there are few studies on the role of intestinal flora in PM2.5-induced depression- and anxiety-like behaviors in mice. Objective To observe the effects of PM2.5 exposure on depression- and anxiety-like behaviors and the composition of intestinal flora in mice, and to explore the role of intestinal flora in regulating 5-hydroxytryptamine (5-HT) in depression- and anxiety-like behaviors in mice exposed to PM2.5. Methods Eight-week-old male SPF C57BL/6J mice were randomly divided into control group (NS group), probiotic group (LGG group), PM2.5 group (PM group), and combined exposure group (PML group), 6 mice in each group. Mice in the PM group and the PML group were exposed to PM2.5 in a dynamic exposure cabinet for 6 h per day, 6 d a week for 7 consecutive weeks, and the PM2.5 concentrations were approximately 8 times higher than the outdoor concentration. The LGG group and the PML group were orally administered with Lactobacillus rhamnosus while the NS group and the PM group were orally administered with the same amount of saline. Elevated plus maze test and open field test were used to detect depression and anxiety in mice. Fecal samples of mice were collected to evaluate intestinal flora abundance, diversity, and structure between groups using high-throughput sequencing of 16S rRNA. ELISA was employed to detect the levels of 5-HT in serum and hippocampus. Spearman correlation was used to analyze the correlations of differential intestinal flora with 5-HT level in hippocampus and depression- and anxiety-like behavior indicators in mice. Results The percentage of open-arm entry [M(P25, P75)] in the PM group was 0.0% (0.0%, 33.3%), lower than those in the NS group [47.7% (25.0%, 50.8%) ] and the PML group [46.9% (40.0%, 50.0%)], and the differences were statistically significant (P<0.05). The total travelled distance and the time spent in central area (\begin{document}$\bar x \pm s $\end{document}) in the PM group were (2.01±0.90) m and (10.31±1.99) s respectively, shorter than those of the NS group [(3.80±0.89) m, (14.47±3.07) s], the total travelled distance in the PML group [(2.73±1.12) m] was shorter than those of the NS group and the LGG group [(4.21±1.08) m], and the differences were statistically significant (P<0.05). Compared to the NS group, the Simpson index of the PM group significantly increased (P<0.05). Compared to the LGG group, the Simpson index of the PML group significantly decreased (P<0.05). The results of Beta diversity analysis showed that there were differences in the composition of intestinal flora among the four groups of mice. Compared with the NS group and the LGG group, the abundances of Erysipelotrichaceae and Dubosiella in the PM group and the PML group increased, while the abundances of Prevotellaceae_UCG-001 decreased, and the differences were statistically significant (P<0.05). In hippocampus, the level of 5-HT in the PM group [(135.02±10.31) μg·g−1] was lower than those in the NS group [(178.77±43.15) μg·g−1] and the LGG group [(224.85±22.98) μg·g−1], and the level of 5-HT in the PML group [(161.27±15.81) μg·g−1] was lower than that in the LGG group (P<0.05). 5-HT level in hippocampus was significantly positively correlated with the relative abundance of Prevotellaceae_UCG-001 (r=0.6090, P=0.012). The percentage of open-arm entry was significantly negatively correlated with the relative abundance of Dubosiella (r=−0.4630, P=0.023). Conclusion Atmospheric PM2.5 exposure may cause depression- and anxiety-like behaviors in mice. The observed behavior dysfunction may be associated with the changes in diversity and relative abundance of intestinal flora as well as the decrease of 5-HT level. Such depression- and anxiety-like behaviors are alleviated after adding probiotics.

Construction of a risk prediction and evaluation system for postoperative incisional infection after spinal surgery / 中华创伤骨科杂志

Objective:To construct a risk prediction and assessment system for incisional infection after spinal surgery.Methods:Based on the failure mode and effect analysis (FMEA), risk factors and assessment indicators of postoperative incisional infection in spinal surgery were sorted out through literature search followed by expert consultation using the Delphi expert consultation method. After three-level assessment indicators were selected according to their importance and expert opinions and assigned by different scores, a risk prediction and evaluation system was constructed for postoperative incisional infection after spinal surgery.Results:The 2 rounds of expert consultation questionnaire resulted in an effective response rate of 100%. The degree of expert consultation authority was 0.85, showing high reliability; the Kendall coordination coefficients of expert consultation ranged from 0.525 to 0.686, showing good coordination ( P<0.05). The three-level assessment indicators consisted of 3 primary, 18 secondary and 54 tertiary ones. After statistical analyses of the important risk indicators selected which consisted of 6 preoperative evaluation ones and 18 postoperative evaluation ones, 6 preoperative and 12 postoperative predictive indicators were obtained. The values of risk priority number (RPN) were calculated for high, medium and low risks for postoperative incisional infection using a semi-quantitative method. Conclusion:A self-designed system has been constructed for risk prediction and assessment of incisional infection after spinal surgery based on expert consultation and FMEA method.

Effects of 5-Aza-dC combined with chemotherapy regimens on the apoptosis of lung adenocarcinoma cells / 中国综合临床

Objective:To investigate the effect of different chemotherapy drugs combined with DNA methylase inhibitor 5-Aza-2'-deoxycytidine (5-Aza-dC) on the apoptosis of lung adenocarcinoma cells.Methods:In the prospective randomized controlled study, lung adenocarcinoma A549 cells were treated with cisplatin plus paclitaxel (TP) or gemcitabine (GP) with or without 5-Aza-dC. According to different drug intervention methods, they were divided into control group, cisplatin combined with paclitaxel (TP) group, cisplatin combined with gemcitabine (GP) group, and 5-Aza-dC combined with TP group, 5-Aza-dC combined with GP group. CCK-8 assay was used to detect the proliferation of A549 cells. Transwell migration and invasion assay were used to detect the effect that each group of drugs on the migration and invasion ability of A549 cells. Quantitative Real-time Polymerase Chain Reaction was used to evaluate the effect of each treatment on the expression of apoptotic genes. One-way analysis of variance was used to compare the degree of cell proliferation in different drug treatment groups, and LSD- t method was used for pairwise comparison within groups. Results:The inhibition rates of lung adenocarcinoma cells in the TP regimen at different time points at 24, 48, and 72 h were as follows (20.00±4.23) %, (35.00±2.80) %, and (56.00±3.11) %. The inhibition rate of 5-Aza-dC combined with TP regimen on lung adenocarcinoma cells was significantly increased, at different time points of 24, 48 and 72 h, respectively (38.00±3.80) %, (50.00±3.25) %, (93.00±4.33) %. The inhibition rates of cells at different time points at 24, 48, and 72 h in the GP regimen were (33.00±5.10) %, (54.00±3.80) %, and (74.00±2.82) %, respectively; while 5-Aza-dC combined with GP regimen could significantly reduce the rate of cell growth, the inhibition rates of cells at 24, 48, and 72 h different time points were as follows (54.00±3.00) %, (67.00±5.30) %, and (95.00±1.13) %. The inhibitory effect of the same drug on lung adenocarcinoma cells increased with time (TP group: F=35.93, P<0.001; 5-Aza-dC combined with TP group: F=97.33, P<0.001; GP group: F =41.73, P<0.001; 5-Aza-dC combined with GP group: F=79.00, P<0.001), and at different time points, the differences were statistically different (all P<0.05). 5-Aza-dC combined with TP and GP chemotherapy regimens can inhibit the migration and invasion of lung adenocarcinoma cell A549, and the inhibitory effect is stronger than that of TP or GP regimens alone. The expression of Caspase 8 was significantly elevated ( t=5.87, P=0.004) in cells treated with 5-Aza-dC combined with GP when compared with GP regimen alone. The expression of Caspase 8 ( t=3.94, P=0.017), Caspase 6 ( t=5.81, P=0.004) and BBC3 (BCL-2 binding component 3) ( t=6.53, P=0.003) were increased when drugged with 5-Aza-dC combined TP regimen compared with TP regimen alone. Conclusion:5-Aza-dC might serve as a chemotherapeutic sensitizer to increase the sensitivity of lung adenocarcinoma cells.

Application of integrated teaching mode in clinical clerkship of obstetrics and gynecology / 中华医学教育探索杂志

Objective:To explore the value of series situational simulation teaching combined with symptoms-centered integrated teaching mode in clinical clerkship of obstetrics and gynecology.Methods:A total of 181 students from Batch 2016 of Clinical Medicine (experimental group) were enrolled to receive the series situational simulation teaching combined with symptoms-centered integrated teaching mode. The teaching results were evaluated by formative evaluation scores and questionnaire, compared with 195 students from Batch 2015 (control group). The statistical analysis was performed with SPSS 21.0.Results:Scores of formative evaluation in experimental group [(88.66±5.92) points] was higher than those in control group [(81.11±7.36) points], with statistically significant differences ( P<0.05). Satisfaction of students for teaching flexibility, teaching innovation, learning interest and clinical thinking in experimental group was greater than that of students in control group ( P<0.05). Meanwhile, compared with the control group, teachers from experimental group were more satisfied with teaching flexibility, teaching integration, students' participation and activity in classroom and cultivation of the clinical thinking ability and post competences ( P<0.05). Conclusion:The series situational simulation teaching combined with symptoms-centered integrated teaching mode can help students to form a systemic knowledge system, cultivate their clinical thinking ability and establish a holistic view of disease.

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Application of microlecture based on robot carrier in standardized residency training of orthopedics / 中华医学教育探索杂志

Objective:To verify the effects of microlecture based on robot carrier on standardized residency training of orthopedics.Methods:Sixty orthopedic residents from our hospital were divided into two groups according to different training methods. One was control group ( n = 30), receiving regular training methods, and the other one was experimental group ( n = 30), receiving additional microlecture based on robot carrier besides regular training methods. The teaching effects of the two groups were compared after the training in orthopedics department. SPSS 20.0 was used for t test. Results:There was no significant difference between the experimental group and the control group in theoretical tests results [(88.63±10.24) vs. (87.85±9.62), P > 0.05]. The operation test scores in experimental group (92.12±7.52) were significantly better than that in control group (85.35±8.12), with statistical significance ( P < 0.05). The satisfaction scores for teaching in experimental group (90.00%) was significantly higher than that in control group (70.00%) ( P < 0.05). Conclusion:Microlecture based on robot carrier could enhance abilities of skills operation for orthopedic residents during the standardized residency training and improve their satisfaction for the teaching effect.

A review on the status quo and implementation methods of ethics education in standardized training for resident doctors in medical genetics department / 中华医学遗传学杂志

Clinical practice of Medical Genetics involves application of various genetic techniques for the diagnosis of genetic disorders and subsequent genetic counseling and treatment. The principles of Medical Ethics must be fully taken into account when applying genetic knowledge for medical practice. Medical Ethics education is therefore essential for the standardized training of resident doctors in medical genetics department. With a basic system of Medical Genetics Physician Training established, our hospital has made a preliminary exploration for the development of Medical Ethics teaching in resident training through various teaching practices including seminar, network teaching, case study, scene teaching and outpatient teaching, with an aim to strengthen Medical Ethnics knowledge, professionalism and communication skills, and implement Medical Ethics principles throughout clinical practice.

Medical record writing teaching based on tutorial system in standardization training for residents / 中华医学教育探索杂志

Objective:To explore the teaching of medical record writing based on tutorial system.Methods:The tutors and residents in standardization training both scored the medical record. The observation indexes included the difference of scoring time between the two editions, the difference of scoring value between tutors and doctors, the distribution of deduction points in medical record writing, and the change trend of medical record score in one year.Results:The scoring value of tutors was significantly lower than that of residents undergoing standardization training ( t=8.919, P<0.05); the deduction of medical records was mainly in the aspects of history of present illness, physical examination, diagnosis and analysis, and treatment plan. After one year of implementation, the score of tutors increased, while that of residents decreased. Conclusion:This method can effectively improve the teaching quality of medical record writing and the ability of residents to discerning problems in medical record writing.

The nursing experience of an elderly patient with anorexia in the acute care for the elderly unit / 中国实用护理杂志

Objective:To summarize the nursing experience of an elderly patient with anorexia and weight loss.Methods:The patient was admitted to the acute care for the elderly unit(ACE) after the acute assessment, and multidisciplinary team care was performed on the patient. To recovery patient to a healthy level and to return quickly the family and society, the team applied the comprehensive assessment technology for the elderly to comprehensively assess the patient′s situation, including multidisciplinary team rounds, routine ACE meetings, implementation of patient-centered care.Results:The anorexia and nutritional status were improved, to be discharged after 8 days. There were no functional declines and hospital-related complications during hospitalization.Conclusion:ACE improves the quality of care and patient outcomes in elderly patients.

The anti-rejection effect of berberine combined with ciclosporin A on mice with xenogenic skin / 国际中医中药杂志

Objective:To investigate the anti-rejection effect of the berberine combined with ciclosporin A (CsA) against mice with xenogenic skin transplantation and explore the mechanisms.Methods:The skin transplantation model was established by an operation, tergal skin flaps from BALB/c donor mice were transplanted to the back of C57BL/6 recipient mice. Then recipient mice were randomly divided into 5 groups ( n=20), namely sham (0.5% CMC-Na), model (0.5% CMC-Na), berberine (100 mg/kg), CsA (10 mg/kg), berberine combined with CsA (berberine 100 mg/kg and CsA 5 mg/kg). All recipient mice were intraperitoneally administered once a day for 10 days. The skin graft survival time of all mice were noted everyday. At the end of the experiment, the levels of Th1 cytokines (IL-2 and IFN-γ) and Th2 cytokines (IL-4 and IL-10) in plasma were detected by ELISA, and quantity of CD4 + CD25 + T cells were analysed by flow cytometry. Results:Compared with model group, the survival days of skin graft of those in groups treated with drugs were all significantly prolonged ( P<0.01). Berberine combined with CsA group showed a longer survival days than berberine or CsA group ( P<0.01). Compared to the model group, the content of IL-2 (11.55 ± 3.14 pg/ml vs. 19.85 ± 2.42 pg/ml), IFN-γ (26.41 ± 6.20 pg/ml vs. 57.23 ± 10.15 pg/ml) of berberine combined with ciclosporin A group significantly decreased ( P<0.05). The content of IL-4 (192.45 ± 70.12 pg/ml vs. 61.09 ± 21.61 pg/ml), IL-10 (106.79 ± 27.83 pg/ml vs. 40.08 ± 11.23 pg/ml) of berberine combined with ciclosporin A group significantly increased ( P<0.05). The amount of CD4 + CD25 + T cells (7.65% ± 2.42% vs. 3.69% ± 0.83%) in berberine combined with ciclosporin A group significantly increased ( P<0.01). Conclusions:The immunosuppressive effect of berberine combined with CsA maybe related with induction of immune tolerance, balance of Th1/Th2 cytokines and increasement of CD4 + CD25 + T cells expression.

Characterization of self-assembled bone-like nano-hydroxyapatite/collagen composites / 中国组织工程研究

BACKGROUND: The materials that are similar to natural bone and can be used for repair of bone defects or as tissue engineering material have become the focus of research. OBJECTIVE: To investigate the feasibility of self-assembly of nano-hydroxyapatite collagen composite. METHODS: Collagen was immersed in 0.25% glutaraldehyde solution for 0.5 (group A), 24 (group B) and 72 hours (group C) for cross-linking reaction. In the group D, collagen was immersed in carbodiimide for 4 hours. After cross-linking reaction, collagen in each group was immersed in nano-hydroxyapatite solution for 7 days to prepare bone-like composite materials. The mineral phase analysis, composition, and microstructure of composite materials and natural bone were analyzed. RESULTS AND CONCLUSION: X-ray diffraction analysis: The amorphous diffraction peaks of the composites were slightly higher than those of the natural bone. The amorphous change of the composite was not obvious. With the prolongation of glutaraldehyde cross-linking time, the peak value of the crystal of the composite tended to increase. The amorphous diffraction peaks of the composites crosslinked with carbodiimide were slightly lower than those crosslinked with glutaraldehyde. Fourier transform infrared spectroscopy analysis: The chemical composition of the composites was similar to that of the natural bone, which was composed of collagen and hydroxyapatite, in which PO43-was partly replaced by CO32-ion in hydroxyapatite. Different cross-linking methods had no obvious effects on inorganic phase change of the materials. Scanning electron microscopy: The effects of different collagen cross-linking methods on the morphology of the formed crystals were not significantly different. Collagen fibers intertwined. A large number of fine needle-like crystals deposited on them, clustered, and were uniformly distributed. The crystal was nano-scaled in size. These results suggest that bone-like composite can be self-assessmbled with nano-hydroxyapatite precursor and collagen.

Monitoring of major occupational diseases and analysis of occupational group's health status of Jining in 2018 / 中华劳动卫生职业病杂志

Objective@#To analyze the major occupational disease surveillance and the occupational health examination of Jining in 2018, provide the basis for the government department formulating occupational disease prevention measures.@*Methods@#In January 2019, collecting data of the occupational disease and Occupational Health Information Surveillance Network in Jining from January 1 to December 31, 2018, 37295 workers were collected, and 37295 workers who were exposed to key occupational disease risk factors and underwent occupational health check-up during their working period. The contact of occupational Hazard Factors and occupational health examination were analyzed. SPSS 22.0 was used to set up the database for statistical analysis.@*Results@#Workers exposed to major occupational hazards were more exposed to noise (56.34%, 39935/70883) , coal dust (15.65%, 11095/70883) , welding fume (10.25%, 7262/70883) , silicon dust (5.61%, 3975/70883) . In 2018, 24 cases (38.71%, 2462) of coal worker's pneumoconiosis, 21 cases (33.87%, 2162) of silicosis, 8 cases (12.90%, 82) of noise deafness and 8 cases (12.90%, 862) of brucellosis were the major occupational diseases reported. The abnormal rate of lung function examination was 14.87% (461/3100) , and the abnormal rate of high frequency hearing threshold examination was 4.56% (1492/32731) in workers exposed to coal dust (coal-silica dust) , the difference was statistically significant (P<0.01) .@*Conclusion@#Jining should strengthen the supervision of enterprises with key occupational disease hazards, formulate classified supervision and management methods, and improve the occupational health inspection rate of workers.

Application of high-resolution melting analysis of segmental duplication in the prenatal diagnosis of common trisomies / 中华检验医学杂志

Methods:A total of 1 152 amniotic fluid samples were collected from pregnant women who underwent prenatal diagnosis in the Nanjing Maternity and Child Health Care Hospital, Women′s Hospital School of Medicine Zhejiang University, West China Second University Hospital, Sichuan University/West China Women′s and Children′s Hospital, and Xiamen Maternal and Child Health Hospital from September 2014 to August 2016. These samples were examined with SD-HRM and karyotyping simultaneously. Clinical sensitivity and specificity of SD-HRM were calculated, and Kappa values were measured to evaluate the consistency of detection results of the two methods.Results:A total of 161 cases of trisomy 21, 60 cases of trisomy 18, and 5 cases of trisomy 13 were detected by SD-HRM in 1 152 prenatal samples, sensitivity and specificity were both up to 100%, and Kappa values is equal to 1 which were consistent with the results of karyotype analysis.Conclusion:SD-HRM is validated to be highly accurate for the prenatal diagnosis of common trisomies, which is promising in the clinical practice.

Effects of CVA16 infection on m 6A methylation-related protein expression and localization / 中华微生物学和免疫学杂志

Objective:To investigate whether coxsackievirus A 16 (CVA16) infection would affect the expression of N6-methyladenosine (m 6A) methylation-related proteins in human bronchial epithelial cells (16HBE), ICR suckling mice and SCRBA2 humanized mice and influence their subcellular localization. Methods:CVA16 was used to infect 16HBE cells at a multiplicity of infection (MOI) of 0.1 and mice at 10 7 CCID 50/ml. Changes in the expression of methyltransferases, demethylases and methylated reading proteins were analyzed by Western blot. Cellular localization of these proteins was observed using immunofluorescence. Results:The expression of m 6A methylation-related proteins was gradually reduced in CVA16-infected cells with time, but showed no obvious change in ICR suckling mice or SCRBA2 humanized mice. After infection, m 6A methylation-related proteins were redistributed in both the nucleus and cytoplasm and even degraded. Conclusions:CVA16 replication in host cells altered the expression and cellular localization of m 6A methylation-related proteins, which indicated that m 6A modification might be a new potential target for enterovirus therapy.

Feasibility of quantitative measurement of fetal trachea and bilateral bronchial angles by ultrasound to diagnose heterotaxy syndrome in middle and late pregnancy / 中华围产医学杂志

Objective@#To analyze the feasibility of prenatal ultrasound quantitative measurement of the angles between trachea and bilateral bronchi as a new diagnostic tool for fetuses with heterotaxy syndrome.@*Methods@#The angles between trachea and bilateral bronchi were measured at 18-34+6 gestational weeks for 200 fetuses with normal ultrasound findings (normal group) and 41 fetuses with heterotaxy syndrome [35 right atrial isomerisms (right group) and six left atrial isomerisms (left group)] diagnosed by ultrasound and confirmed after abortion or induction (case group) in Chongqing Health Center for Women and Children from October 2015 to December 2018. Scatter plots of left/right bronchus angle (α/β) ratios were drawn. Differences in bilateral bronchus angles between the three groups were statistically analyzed using one-way analysis of variance and paired t-test.@*Results@#In the normal group, scatter plots showed the α/β ratios were relatively constant at 0.8-1.0 with larger β than α (t=-33.14, P<0.05), indicating that the right bronchus always went more steeply than the left one. In the case group, the α/β ratios were around 1.0. In the right group, the α value increased and was close to the β value [(153.90±5.43)° vs (156.02±5.59)°, t=-2.56, P>0.05] and presented as bilateral right bronchial angle; in the left group, the β value decreased and was close to the α value [(147.38±3.16)° vs (148.82±5.56)°, t=-1.18, P>0.05] and presented as bilateral left bronchial angle. There were significant differences in the α and β values among the normal group, the right and left groups (all P<0.05), and the bronchial angles of the right group were both greater than those of the left group (all P<0.05).@*Conclusions@#Prenatal ultrasound measurement of the angles between trachea and bilateral bronchi can be used as an indirect indicator for the diagnosis of heterotaxy syndrome.