[Current status and reflection on molecular diagnosis of birth defects].

Birth defects are a major problem threatening the health of children in China. Genetic factors play a major role in birth defect etiology. Molecular diagnosis is the key means for screening, diagnosing, and preventing birth defects caused by genetic factors. How to carry out large-scale and cost-effective molecular diagnosis in clinical practice is a major challenge in the prevention and treatment of birth defects in China. This article reviews the current status of birth defects in China, the application of molecular diagnostic technology in birth defect prevention and control, and the challenges in promoting its use, to provide references for clinical practice in birth defect molecular diagnosis.

[Patient-reported outcomes of locally advanced gastric cancer undergoing robotic versus laparoscopic gastrectomy: a randomized controlled study].

Objective: To compare the patient-reported outcomes and short-term clinical outcomes between robotic-assisted and laparoscopic-assisted radical gastrectomy for locally advanced gastric cancer. Methods: This single-center prospective randomized controlled trial was conducted in the Department of Gastrointestinal Surgery,Affiliated Hospital of Qingdao University from October 2020 to August 2022. Patients with locally advanced gastric cancer who were to undergo radical gastrectomy were selected and randomly divided into two groups according to 1∶1, and received robotic surgery and laparoscopic surgery, respectively. Patient-reported outcomes and short-term clinical outcomes (including postoperative complications, surgical quality and postoperative short-term recovery) were compared between the two groups by t test, Mann-Whitney U test, repeated ANOVA, generalized estimating equation, χ2 test and Fisher's exact test. Results: A total of 237 patients were enrolled for modified intention-to-treat analysis (120 patients in the robotic group, 117 patients in the laparoscopic group). There were 180 males and 59 females, aged (63.0±10.2) years (range: 30 to 85 years). The incidence of postoperative complications was similar between the robotic group and laparoscopic group (16.7% (20/120) vs. 15.4% (18/117), χ2=0.072, P=0.788). The robotic group had higher patient-reported outcomes scores in general health status, emotional, and social domains compared to the laparoscopic group, differences in time effect, intervention effect, and interaction effect were statistically significant (general health status: χ2 value were 275.68, 3.91, 6.38, P value were <0.01, 0.048, 0.041; emotional: χ2 value were 77.79, 6.04, 6.15, P value were <0.01, 0.014, 0.046; social: χ2 value were 148.00, 7.57, 5.98, P value were <0.01, 0.006, 0.048). However, the financial burden of the robotic group was higher, the differences in time effect, intervention effect and interaction effect were statistically significant (χ2 value were 156.24, 4.08, 36.56, P value were<0.01, 0.043,<0.01). Conclusion: Compared to the laparoscopic group, the robotic group could more effectively relieve postoperative negative emotions and improve recovery of social function in patients.

[A case of left pulmonary artery sling combined with congenital tracheal stenosis in an adult].

Pulmonary artery sling in adults is a rare congenital vascular malformation usually accompanied by tracheal and bronchial stenosis. Due to its high mortality risk and relatively poor prognosis, it has rarely been reported in adults. We reported a middle-aged patient who presented with shortness of breath, predominantly after activity, since childhood. He was diagnosed with "tracheal stenosis" in another hospital and received symptomatic treatment. The diagnosis of left pulmonary artery sling with congenital tracheal stenosis was confirmed by multi-slice spiral CT (MSCT), airway examination with flexible bronchoscope and 3D image post-processing system. Data from this case and the related literatures have been summarized and analyzed. This will help clinicians to improve their level of diagnosis and treatment.

Cardiovascular capacity in adults with obstructive sleep apnoea.

BACKGROUND: Obstructive sleep apnoea (OSA) patients have a decreased exercise capacity. Potential cardiovascular capacity in patients with OSA with different severity without known cardiovascular disease has not been described.OBJECTIVE: To evaluate impaired potential exercise cardiovascular capacity during cardiopulmonary exercise testing (CPET) in OSA patients and to compare cardiovascular performance reaction with different severity during graded exercise stages.DESIGN: All participants were accompanied without cardiovascular disease, especially hypertension and arrhythmia. Parameters of different stages were compared between subjects with and without OSA, and among OSA patients with varied severity.RESULTS: Despite having significantly higher peak exercise diastolic blood pressure (DBP) and ventilatory equivalent for CO2 (EQCO2), patients with OSA had a lower peak oxygen uptake (VO2), heart rate (HR), heart rate recovery (HRR) and respiratory reserve (BR) than normal subjects. Furthermore, significant correlations were found between VO2, DBP, EQCO2, HRR, BR and the apnoea-hypopnea index. In severe OSA, there was a greater difference in HR and HRR during the anaerobic threshold stages.CONCLUSIONS: OSA patients demonstrate reduced potential cardiovascular capacity, even without documented cardiovascular disease. Patients with severe OSA develop impaired exercise capacity at early stage during exercise. These data point to exaggerated haemodynamic response to graded exercise and delayed post-exercise cardiovascular response recovery in OSA patients. CPET can be a supplement for assessment of OSA severity.

[Clinical characteristics of severe pre-eclampsia in a single tertiary referral center of Xiamen City].

Objective: To explore the key points for preventing and reducing severe pre-eclampsia (SPE) and its severe complications in the tertiary medical referral system of a second-tier city by analyzing the clinical characteristics of SPE. Methods: The clinical data of 341 patients with SPE who terminated pregnancy in Women and Children's Hospital, School of Medicine, Xiamen University, from January 1, 2020 to December 31, 2022 were retrospectively analyzed, and the pre-eclampsia (PE) risk factors, clinical characteristics and severe complications of SPE between the patients referred from primary hospitals (referral group) and the patients received regular prenatal care in the tertiary referral center (central group) were compared, as well as the influence of the referral timing on the maternal and perinatal outcomes. Results: Among the 341 cases of SPE, 92 cases were in the referral group and 249 cases were in the central group. (1) Analysis of PE risk factors: there was no statistical difference in the proportion of risk factors of PE between these two groups [75.0% (69/92) vs 71.9% (179/249); χ2=0.328, P=0.567]. (2) Analysis of clinical features: the gestational ages at the PE early warning factors onset, at the PE first symptom onset and at SPE diagnosed, pregnancy terminated and onset of SPE severe complications in the referral group were significantly earlier than those in the central group (all P<0.05), the proportions of terminating pregnancy before 32 weeks of gestation, between 32 and 34 weeks of gestation, intensive care unit (ICU), neonatal ICU hospitalization and fetal growth restriction in single pregnancies were higher than those in the central group, while the live birth rate was lower than that in the central group (all P<0.05). (3) Analysis of SPE severe complications: the rates of SPE severe complications in the referral group was higher than that in the central group [28.3% (26/92) vs 13.7% (34/249); χ2=9.885, P=0.002]. Among them, the rates of placental abruption [7.6% (7/92) vs 2.8% (7/249); χ2=3.927, P=0.048] and still birth [6.5% (6/92) vs 0.4% (1/249); χ2=9.656, P=0.002] in the referral group were significantly higher than those in the central group. (4) Analysis of referral timings: the timings included referral after onset of SPE severe complications (9.8%, 9/92), referral after SPE diagnosed (63.0%, 58/92), referral after detection of SPE early warning signs (20.7%, 19/92) and referral after detection of PE risk factors (6.5%, 6/92). The gestational ages at SPE diagnosed and pregnancy terminated in group of referral after onset of SPE severe complications and group of referral after SPE diagnosed were significantly earlier than those in group of referral after detection of PE early warning signs and group of referral after detection of PE risk factors (P<0.05). The earlier the referral, the higher the live birth rates (P<0.05). Conclusions: The tertiary referral center of the second-tier city plays an important role in reducing the maternal and perinatal damage of PE. The timing of referral in primary medical institutions is the key point of reducing the occurrence of SPE severe complications and maternal, perinatal damage of PE. It is necessary for medical institutions of all levels in all regions to improve the ability of early identification and early intervention for PE, to enhance the awareness of SPE and its severe complications prevention and control. Primary medical institutions should especially pay attention to raise the consciousness of PE risk factors and early warning signs, and to improve the ability of PE risk factors and early warning signs screening.

[Advances in the relationship between lung cancer and microbiota].

Interaction exists in lung cancer and microbiota. Lung microecological homeostasis can improve the immune tolerance, enhance immune suppression, and inhibit inflammatory responses, to reduce the lung cancer; while lung cancer can lead to pulmonary microecological imbalance, change the lung environment, and promote tumor cell proliferation. Therefore, modulating microbial flora and microecological immunotherapy may be a potential and preventive treatment for lung cancer, to restore tumor immunosuppression and improve patient survival. However, the individual differences in the lung microecology, because of different genetics, ethnic characteristics, and dietary habits, increasing the difficulty of precise diagnosis and treatment, which is also the current bottleneck in the application of microecological immunotherapy. Otherwise, the effectiveness of regulatory measures such as probiotics, prebiotics or antimicrobials is questionable. The research on microbial flora is still in its infancy, and further exploration is needed to form a standardized, effective, and precise treatment plan. So, standardized, effective, and precise microbial flora treatment strategies need to be further explored.

[The application of nasal mucosal flaps in frontal drill out procedures].

Objective: To summarize the follow-up outcomes of frontal drill out procedures (draf Ⅱb, extended draf Ⅱb and draf Ⅲ) using mucosal flaps, and discuss the surgical indications of different mucosal flaps and their potential benefits to the opening of the frontal neo-ostium. Methods: A total of 48 patients with chronic rhinosinusitis or frontal mucoceles treated by draf Ⅱb, extended draf Ⅱb and draf Ⅲ between 2013 and 2019 in Beijing TongRen Hospital were enrolled in this study. Twenty-four patients who were treated with mucosal flaps were considered as mucosal flap group (including 19 males and 5 females, aging from 19 to 71 years), and the other 24 patients who didn't have neo-ostium reconstruction were considered as control group (including 18 males and 6 females, aging from 21 to 63 years). The frontal neo-ostium crosssectional area was measured with osiriX® 7 days and 1 year postoperatively. Lund-Kennedy score (LKS) was also completed to analyze the difference of therapeutic effect between mucosal flap group and control group. SPSS 23.0 software was used for statistical analysis. Results: The postoperative follow-up time was 18 to 102 months. The postoperative epithelialization time in the mucosal flap group and the control group was (2.5±0.9) months and (3.0±0.7) months (Mean±SD), respectively, with statistically significant (t=1.97, P=0.024). At the end of follow-up, 23 cases (95.8%) had well opened frontal neo-ostium, 1 case (4.2%) was re-stenosed, and there was no revision surgery in the mucosal flap group. In the control group, 16 cases (66.7%) had well opened frontal neo-ostium, 8 cases (33.3%) were re-stenosed, 4 cases (16.7%) had revision surgery. The mucosal flap group had much fewer stenosis cases than control group (χ2=4.92, P=0.027). The neo-ostium area in the mucosal flap group and the control group was reduced by (0.87±0.58) cm2 and (1.54±1.15) cm2 1 year after operation respectively, with statistically significant (t=1.72, P=0.046). There was no case of frontal sinus atresia and no surgical complication in both groups. The two-factor repeated measurement analysis of variance after surgery showed that the average LKS of the mucosal flap group was 0.78 points lower than that of the control group. In other words, the influence of grafting technique on LKS was statistically significant (F=5.33, P=0.035). Conclusions: The application of mucosal flaps to cover the denuded bone during frontal drill out procedures can prohibit mucosal scar and new bone formation, and significantly reduce the stenosis rate of frontal neo-ostium.

[Status of HVPG clinical application in China in 2021].

Objective: The investigation and research on the application status of Hepatic Venous Pressure Gradient (HVPG) is very important to understand the real situation and future development of this technology in China. Methods: This study comprehensively investigated the basic situation of HVPG technology in China, including hospital distribution, hospital level, annual number of cases, catheters used, average cost, indications and existing problems. Results: According to the survey, there were 70 hospitals in China carrying out HVPG technology in 2021, distributed in 28 provinces (autonomous regions and municipalities directly under the central Government). A total of 4 398 cases of HVPG were performed in all the surveyed hospitals in 2021, of which 2 291 cases (52.1%) were tested by HVPG alone. The average cost of HVPG detection was (5 617.2±2 079.4) yuan. 96.3% of the teams completed HVPG detection with balloon method, and most of the teams used thrombectomy balloon catheter (80.3%). Conclusion: Through this investigation, the status of domestic clinical application of HVPG has been clarified, and it has been confirmed that many domestic medical institutions have mastered this technology, but it still needs to continue to promote and popularize HVPG technology in the future.

[Molecular characterization of Staphylococcus aureus ST6 and ST7 isolates from food-borne illness outbreaks].

Objective: To analyze the Staphylococcal enterotoxins, Staphylococcal enterotoxin genes, drug resistance and molecular typing of 41 Staphylococcus aureus isolates from 2 food-borne illness outbreaks on 21 August and 27 September 2020 in Guangzhou. Methods: A total of 41 Staphylococcus aureus isolates from 2 outbreaks were analyzed by multilocus sequence typing (MLST) and spa typing. The Staphylococcal enterotoxins typing and the Staphylococcal enterotoxin genes of the isolates were analyzed by ELISA and PCR, respectively. The antimicrobial susceptibility of the isolates was performed by disc diffusion. 21 Staphylococcus aureus isolates were characterized using whole genome sequencing (WGS). Based on the whole genome single nucleotide polymorphism (SNP), the phylogenetic tree was constructed by Snippy. Results: 41 Staphylococcus aureus isolates were divided into 2 types by MLST and spa typing: ST6-t701 and ST7-t091. 2 ST7-t091 isolates were identified as methicillin-resistant Staphylococcus aureus (MRSA). 25 ST7-t091 isolates and 14 ST6-t701 isolates were methicillin-sensitive Staphylococcus aureus (MSSA), and were resistant to 7 and 6 antibiotics, respectively. All isolates were positive for sea by PCR. WGS revealed all 21 isolates carried scn, sak, sea, hla, hld, hlgA, hlgB, hlgC, lukD virulence genes. The results showed the isolates contained an immune evasion cluster type D which located in bacteriophage ϕSa3. The SNP phylogenetic tree showed 2 MRSA ST7-t091 were constituted a separate clade from the 12 MSSA ST7-t091 isolates and 7 ST6-t701 isolates showed high similarity to each other. Conclusion: Base on the results of phylogenetic analysis, the 2 food-borne illness outbreaks occurred on 21 August and 27 September 2020 are caused by the combination of the MRSA ST7-t091 strain and the MSSA ST7-t091 strain, and the MSSA ST6-t701 strain, respectively. All isolates have high level of antibiotic resistance and carry high virulent genes.

[The effects of robotic-assisted versus laparoscopic-assisted radical right hemicolectomy on short-term outcome and long-term prognosis based on propensity score matching].

Objective: To compare the short-term and long-term outcomes between robotic-assisted and laparoscopic-assisted radical right hemicolectomy in patients with adenocarcinoma of the right colon. Methods: Retrospective review of a prospectively collected database identified 288 right colon cancer patients who underwent either robotic-assisted (n=57) or laparoscopic-assisted right hemicolectomy (n=231) between October 2014 and October 2020 at Department of Gastrointestinal Surgery, the Affiliated Hospital of Qingdao University. There were 161 males and 127 females, aging (60.3±12.8) years (range: 17 to 86 years). After propensity score matching as 1∶4 between robotic-assisted and laparoscopic-assisted right hemicolectomy, there were 56 cases in robotic group and 176 cases in laparoscipic group. Perioperative outcomes and overall survival were compared between the two groups using t test, Wilcoxon rank sum test, χ2 test, Fisher exact test, Kaplan-Meier method and Log-rank test, respectively. Results: The total operative time was similar between the robotic and laparoscopic group ((206.9±60.7) minutes vs. (219.9±56.3) minutes, t=-1.477, P=0.141). Intraoperative bleeding was less in the robotic group (50 (20) ml vs. 50 (50) ml, Z=-4.591, P<0.01), while the number of lymph nodes retrieved was significantly higher (36.0±10.0 vs. 29.0±10.1, t=4.491, P<0.01). Patients in robotic group experienced significantly shorter hospital stay, shorter time to first flatus, and defecation (t: -2.888, -2.946, -2.328, all P<0.05). Moreover, the overall peri-operative complication rate was similar between robotic and laparoscopic group (17.9% vs. 22.7%, χ²=0.596,P=0.465). The 3-year overall survival were 92.9% and 87.9% respectively and the 3-year disease-free survival rates were 83.1% and 82.6% with no statistical significance between the robotic and laparoscopic group (P>0.05). Conclusions: Compared to laparoscopic-assisted right hemicolectomy, robot-assisted right hemicolectomy could improve some short-term clinical outcomes. The two procedures are both achieving comparable survival.

[The accuracy and influencing factors of sleep staging based on single-channel EEG via a deep neural network].

Objective: To investigate theaccuracy of artificial intelligence sleep staging model in patients with habitual snoring and obstructive sleep apnea hypopnea syndrome (OSAHS) based on single-channel EEG collected from different locations of the head. Methods: The clinical data of 114 adults with habitual snoring and OSAHS who visited to the Sleep Medicine Center of Beijing Tongren Hospital from September 2020 to March of 2021 were analyzed retrospectively, including 93 males and 21 females, aging from 20 to 64 years old. Eighty-five adults with OSAHS and 29 subjects with habitual snoring were included. Sleep staging analysis was performed on the single lead EEG signals of different locations (FP2-M1, C4-M1, F3-M2, ROG-M1, O1-M2) using the deep learning segmentation model trained by previous data. Manual scoring results were used as the gold standard to analyze the consistency rate of results and the influence of different categories of disease. Results: EEG data in 124 747 30-second epochs were taken as the testing dataset. The model accuracy of distinguishing wake/sleep was 92.3%,92.6%,93.5%,89.2% and 83.0% respectively,based on EEG channel Fp2-M1, C4-M1, F3-M2, REOG-M1 or O1-M2. The mode accuracy of distinguishing wake/REM/NREM and wake/REM/N1-2/SWS , was 84.7% and 80.1% respectively based on channel Fp2-M1, which located in forehead skin. The AHI calculated based on total sleep time derived from the model and gold standard were 13.6[4.30,42.5] and 14.2[4.8,42.7], respectively (Z=-2.477, P=0.013), and the kappa coefficient was 0.977. Conclusions: The autonomic sleep staging via a deep neural network model based on forehead single-channel EEG (Fp2-M1) has a good consistency in the identification sleep stage in a population with habitual snoring and OSAHS with different categories. The AHI calculated based on this model has high consistency with manual scoring.

[Research progress on the regulation mechanism of Pseudomonas aeruginosa biofilm].

Pseudomonas aeruginosa is one of the common multidrug-resistant bacteria in the clinic. Because it can produce a "protective" biofilm, it can affect the penetration and killing efficacy of antibacterial drugs, leading to the formation of a persistent and persistent chronic infection in the host. Biofilms make Pseudomonas aeruginosa resistant to antibacterials and evasive to the host's immune system. Therefore, traditional conventional antibacterials are difficult to achieve effective bactericidal treatment. Understanding the process of P. aeruginosa biofilm formation and the regulatory mechanisms that affect biofilms can provide ideas and methods for our future research on new antibacterial drugs.

The Prevalence and Clinical Characteristics of Essential Tremor in Elderly Chineses: A Population-Based Study.

OBJECTIVES: To investigate the prevalence and the clinical feature of essential tremor (ET) in a community cohort in Beijing. METHODS: Using a door-to-door, two-phase approach, we investigated 2,835 residents aged ≥55 years old from rural, urban, and mountain areas. RESULTS: The prevalence rate of ET was 4.29%, 2.85%, and 2.29% in rural, urban, and mountain areas, respectively. The overall age- and sex-adjusted prevalence was 3.29%. Among those aged ≥75 years, the prevalence rate in the urban area was higher than those in the rural and mountain areas. The prevalence rate increased with age, and the prevalence was higher among men (6.0%) than among women (3.6%). There was a correlation of ET prevalence with age, sex, and habitation area, but not with alcohol, tea drinking, and occupation. Women (25%) with ET were more likely to have head tremor than men (16.9%). CONCLUSIONS: The ET prevalence in the elderly of Beijing was 3.29% which is higher in the urban area and in men.

Morphine induces the apoptosis of mouse hippocampal neurons HT-22 through upregulating miR-181-5p.

OBJECTIVE: To elucidate the role of morphine in inducing apoptosis of mouse hippocampal neurons HT-22 by upregulating microRNA-181-5p (miR-181-5p). MATERIALS AND METHODS: After treatment of different doses of morphine, changes in proliferative ability, apoptosis, and expression levels of miR-181-5p and MAPK1 in HT-22 cells were assessed through a series of functional experiments. Regulatory effects of miR-181-5p on morphine-induced phenotype changes of HT-22 cells were examined. The interaction between miR-181-5p and MAPK1, and their involvement in morphine-induced neuron apoptosis were explored by Luciferase assay and rescue experiments, respectively. RESULTS: Morphine treatment markedly attenuated viability and proliferative ability in HT-22 cells, while apoptotic rate increased. MiR-181-5p was upregulated and MAPK1 was downregulated in HT-22 cells by morphine induction. Knockdown of miR-181-5p enhanced viability and proliferative ability, as well as reduced apoptosis in morphine-induced HT-22 cells. MiR-181-5p could specifically bind MAPK1 and negatively regulate its expression level. Knockdown of MAPK1 was able to reverse the regulatory effects of miR-181-5p on morphine-induced phenotype changes of HT-22 cells. CONCLUSIONS: Morphine induces apoptosis of hippocampal neurons HT-22 by upregulating miR-181-5p to suppress the level of MAPK1.