Objective To evaluate the application value of extended non-invasive prenatal genetic testing (NIPT-plus) in prenatal screening. Methods All the NIPT-plus data were collected from Zhujiang Hospital of Southern Medical University and the Seventh Affiliated Hospital of Southern Medical University from January 2018 to June 2021. The abnormal results of NIPT-plus were validated by fetal chromosome examination through amniocentesis. The positive predictive value and negative predictive value of NIPT-plus were analyzed, and the fetal prognosis was followed up. Results A total of 2191 cases were detected, and 38 cases were abnormal (positive rate was 1.7%), among which 6 cases were chromosomal copy number variation. A total of 31 cases were confirmed by amniocentesis, of which 18 cases were consistent with the results of NIPT-plus. The total positive predictive value of NIPT-plus was 58.1%, and the negative predictive value was 100.0%. There were 5 cases of chromosome copy number variation for prenatal diagnosis, of which 3 cases were consistent with the results of NIPT-plus test and the positive predictive value was 60.0%. Conclusion The use of NIPT-plus in prenatal screening has a certain warning value for pregnant women with risk of fetal chromosomal abnormalities.

Objective To analyze the correlation between inflammatory index and respiratory failure (RF) in patients with idiopathic pulmonary fibrosis (IPF). Methods The clinical data of 169 patients with IPF admitted in the First Hospital of Lanzhou University from January 2019 to October 2021 were collected, and then divided into the group with respiratory failure (RF group, n=84) and the group without respiratory failure (non-RF group, n=85) according to the arterial blood gas analysis. The clinical data such as blood routine and biochemical data were collected for comparison between the two groups. Logistic regression analysis was performed to screen the possible risk factors of RF in IPF patients; Spearman correlation analysis was used to explore the correlation between multiple inflammatory indicators and between PaO₂ level and inflammatory indicators; The diagnostic value of inflammatory indicators was analyzed in IPF patients complicated with RF by using the ROC curve. Results NLR (neutrophil to lymphocyte ratio) and PLR (platelet to lymphocyte ratio) were significantly higher in RF group than in non-RF group, while LMR(lymphocyte to monocyte ratio) were significantly lower than those in non-RF group, the differences were statistically significant (P<0.05). Spearman correlation analysis was conducted on NLR, PLR, LMR and CRP, PCT and PaO₂ levels in all patients, it was indicated that NLR, PLR were positively correlated with CRP and PCT (P<0.05), while LMR was negatively correlated with CRP and PCT (P<0.05), moreover, there was a negative correlation between NLR and PaO₂ level (P<0.05), and a positive correlation between LMR and PaO₂ level (P<0.05). Logistic multifactor regression analysis suggested that smoking and increased NLR were independent risk factors for RF in IPF patients. ROC analysis indicated that NLR and LMR could be effectively used in diagnosis of IPF complicated with RF, and the area under the curve was 0.738(95%CI 0.663-0.812) and 0.736(95%CI 0.660-0.812), respectively.PLR had limited diagnostic value for IPF complicated with RF, and the area under the curve was only 0.629(95%CI 0.545-0.714), while the combined diagnostic ability of NLR, PLR and LMR was higher than the three single indexes, and the area under the curve was 0.760(95%CI 0.689-0.832). Conclusions Elevated NLR is an independent risk factor for RF in IPF patients. NLR, PLR, LMR and their combination have certain diagnostic value for IPF patients complicated with RF, and the combined diagnostic ability of the three is better than the three single indicators alone.

Objective To investigate the clinical application value of chromosome karyotype combined with chromosome microarray analysis (CMA) on genetic diagnosis of embryo termination in early pregnancy. Methods The clinical information and embryo termination tissues were collected of 194 patients treated in the Prenatal Diagnosis Center of the Fourth Hospital of Shijiazhuang due to early embryo abortion from June 2019 to June 2020. Traditional chromosome karyotype analysis and CMA analysis were used for chromosome analysis of the enrolled embryos, and carry out genetic traceability test, summarize and analyze chromosome karyotype/CMA results in combination with embryo chromosome test results. Results (1) The average age of all enrolled patients was 34.1 (22-45) years, of them 120 cases (61.9%) were older than 35 years; The average gestational age was 9.75(7-14) weeks, of which 144 cases (74.2%) were with gestational age less than 10 weeks. Among 101 pregnant women (52.1%, 101/194) with adverse pregnancy and childbirth history, 79 cases (78.2%) had a history of embryo termination, and 22 cases had a history of spontaneous abortion (21.8%). (2) Among 124 cases with abnormal karyotype (63.9%, 124/194), 89 cases (71.8%)had trisomy, 15 cases (12.1%) had monosomy, 11 cases (8.9%) had triploidy, 8 cases (6.4%) had chimera, and 1 case (0.8%) had abnormal structure. (3) Among 33 cases of CMA test results, 9 cases of pathogenic, 2 cases of suspected pathogenic, 1 case of benign, and 21 cases of unknown clinical significance (VUS). The combination of CMA increased the detection rate of chromosomal variants by 4.6%. Among 124 cases of abnormal karyotype, 17 cases were associated with abnormal chromosome microstructure (3 cases were pathogenic, 1 case might be benign, and 13 cases were VUS). (4) The results of parental chromosome test showed that 4 cases of polymorphic chromosome changes and 4 cases of abnormal karyotype; Verification and comparison results in 33 couples with chromosome microstructure variation displayed that 1 case of benign and 1 case of VUS were inherited from the mother, and no chromosomal microstructural variation was detected from the other cases. Conclusion Traditional chromosome karyotype technology combined with CMA can effectively improve the detection rate of chromosome variation, and has certain reference value for guiding the future pregnancy.

Objective To investigate the clinical application value of chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in fetuses with increased nuchal translucency (NT). Methods From January 2020 to April 2022, clinical data of 1013 fetuses were collected who underwent invasive prenatal diagnosis due to NT thickening [defined as NT ≥95th centile for the crown-rump length (CRL)] in the Third Affiliated Hospital of Zhengzhou University. All fetuses were undergone CMA detection, 49 fetuses with negative CMA results underwent further prenatal WES. According to NT value, fetuses were divided into the following four groups: <3.5 mm group (529 cases, 21 cases underwent WES), 3.5-4.5 mm group (273 cases, 8 cases underwent WES), 4.5-5.5 mm group (98 cases, 7 cases underwent WES), and ≥5.5 mm group (113 cases, 13 cases underwent WES). According to the results of ultrasound examination, all fetuses were divided into structural malformation group (88 cases, 23 cases underwent WES) and isolated increased NT group (925 cases, 26 cases underwent WES). The possible chromosomal anomalies were analyzed by CMA first. Furthermore, 49 cases with increased NT but negative CMA results were investigated by WES, and the outcomes were followed up. Results CMA showed that, among the 1013 cases of NT thickened fetus, 224 cases (22.1%) of causative genetic defects were detected, including 182 (18.0%) cases with chromosomal aneuploidy and 42 (4.1%) cases with pathogenic copy number variation (pCNVs). Among different NT value groups, the positive rate of CMA in NT ≥5.5 mm group was the highest (47.8%). In addition, the positive rate of CMA in fetuses with increased NT and structural malformations was higher than in isolated increased NT (45.5% vs. 19.9%). WES detected monogenic disease in 5 of 49 fetuses (10.2%) with increased NT and negative CMA results, including 3 cases of autosomal dominant disease, 1 case of autosomal recessive hereditary disease and 1 case of X-linked recessive hereditary disease. All the five fetuses had structural malformations, two of them with increased NT <3.5 mm, and only one of them was born alive. Conclusion WES can detect out monogenic disease in fetuses with increased NT combined structural malformations with negative CMA results. Fetuses with increased NT should also be alert for the possibility of monogenic disease even if the NT value less than 3.5 mm.

Objective To investigate the effect of laryngeal and endotracheal surface anesthesia on cough reflex during extubation after excision of supratentorial tumors, and observe its safety. Methods Forty patients were recruited in present study who underwent supratentorial tumor resection under general anesthesia in the Department of Neurosurgery, Peking University International Hospital from March 2021 to March 2022. The patients were randomly divided into tetracaine group (n=20) and control group (n=20). Patients in tetracaine group were uniformly sprayed 2 ml of 2% tetracaine on the bilateral vocal cords, epiglottis and trachea with an atomized laryngeal anesthetic tube before intubation, and patients in control group received no such treatment Anesthesia management was the same in the both groups. Cough score during extubation, NRS score for throat pain after extubation, NRS score for incision pain, mean arterial pressure (MAP) and heart rate were recorded at 3 min after arterial intubation (T₀), before tracheal intubation (T₁), 30 s after pulling the cuff after intubation (T₂), and when the patient is conscious enough to pull out the tracheal intubation (T₃), and the occurrence of hoarseness, swallowing and coughing after extubation. Results Five patients in each group were excluded. The cough score was significantly lower in tetracaine group than in control group (0.4±0.6 vs. 2.6±0.5). Their difference was –2.2 (95%CI –2.5, –1.9), lower than the valid assumed value –1.8. NRS score of throat pain in tetracaine group was significantly lower than control group after extubation [2(0, 2) vs. 4(3, 4.5), P<0.001]. However, no statistically significant difference existed between the two groups in NRS scores of incision pain [3(2, 3) vs. 3(2.5, 3.5), P=0.705]. The MAP was significantly lower in tetracaine group than in control group at T₃ [(90.87±13.37) mmHg vs. (102.8±11.52) mmHg, P=0.014]; At T₀-T₃, there was no significant difference in heart rate between the two groups (P>0.05). No side effects such as hoarseness, swallowing and coughing occurred in both groups after operation. Conclusion Before tracheal intubation in patients undergoing supratentorial tumor resection, laryngeal and endotracheal surface anesthesia with 2% tetracaine could reduce the degree of choking during extubation, relieve pharyngeal pain after extubation, the blood pressure was more stable and no serious adverse reaction was found.

Liver transplantation is currently an effective treatment for end-stage liver disease. Postoperative infection is the main important cause of death in patients after liver transplantation. Due to the lack of specificity of clinical symptoms of postoperative infections, further insight is needed into the incidence, risk factors, diagnosis and treatment of different infections, including bacterial, fungal and viral. In addition, it could reduce the perioperative mortality that understanding the characteristics of changes in immune function after liver transplantation and timely prevention and treatment of post-transplant complications of infection, which would ultimately improve the outcome of patients. Nowadays, the use of immune-supporting drugs such as thymosin α₁, intravenous immunoglobulin and ulinastatin have also shown some efficacy in patients with post-transplant infections.This article reviews the characteristics of infection, the changes of immune function and the feasibility of immunosupportive therapy after liver transplantation.

Heart failure is the end stage of various cardiovascular diseases. Its pathological process is complex and regulated by many factors. With population aging intensifying, the prevalence rate of heart failure is increasing. MicroRNA (miRNA)participates in the development and growth of the body and plays an important role in the occurrence and development of heart failure. In addition, miRNA could be used as a marker and a target of treatment on heart failure. In this paper, CiteSpace was used to conduct bibliometric analysis on research on miRNA and heart failure, and keyword clustering and emergence was used to judge the research frontier in this field, that is, miRNA changes participate in the regulation of myocardial hypertrophy and myocardial fibrosis in the occurrence and development of heart failure. It is summarized research progress on traditional Chinese and Western medicine improving heart failure by regulating miRNA.

Cognition is a process in which the human brain receives external information, processes it, and transforms it into internal psychological activities to obtain or apply knowledge. Cognitive impairment is the impairment of one or more functions in memory, language, visual space, execution, calculation, and understanding, affecting an individual's daily or social ability. With the aging of the population, the incidence rate of cognitive impairment is increasing. Currently, biomarkers related to the cognitive impairment have become a research focus. Gut microbiota has emerged as a potential player in pathophysiology of cognitive impairment. Trimethylamine N-oxide (TMAO), the metabolite produced by gut microbiota, has mechanistic relevance to cognitive impairment. Therefore, the main goal of the present review is to provide the reader with potential mechanisms of TMAO and cognitive impairment. Although a link between TMAO and cognitive impairment is far from definitive, this review will serve as a call for research into this new area.

With the burgeoning development of glycobiology, a growing body of research shows a significant relationship between the development of various diseases and polysaccharides. Glycocalyx, an important component of the vascular endothelium, has a villi-like structure and plays a highly crucial role in maintaining vascular homeostasis. In-depth multidisciplinary studies have further revealed that the biological functions of glycocalyx are not only limited to vascular homeostasis, but are also closely related to various diseases in vivo. Foundations of glycocalyx composition and biological function, this paper reviews the latest research of glycocalyx biodegradation mechanism from the perspective of biological relevance of glycocalyx main components [heparan sulfate (HS), chondroitin sulfate (CS), hyaluronic acid (HA) and core protein] to cancer, corona virus disease 2019 (COVID-19), trauma surgery and other diseases by visualization and molecular biology experimental methods, and intends to provide new thoughts for clinical development of novel diagnostic methods and therapeutic targets.

Chronic obstructive pulmonary disease (COPD) is one of the most common comorbidities in patients with atrial fibrillation, and the both diseases share a series of common risk factors. COPD promotes the occurrence and development of atrial fibrillation by variety of pathophysiological mechanisms, is the important factor affecting the prognosis of patient with atrial fibrillation, and results in an elevation of clinical adverse and cardiovascular death events. Atrial fibrillation also affects the treatment strategy and prognosis of COPD patients. Treatment plan for patients with both atrial fibrillation and COPD faced huge challenging.The research findings of home and abroad related to atrial fibrillation complicated with COPD were summarized in present paper from the aspects of epidemiology, pathophysiology mechanism, patient management, outcome and prognosis, in order to provide help for the integrated multidisciplinary management and individualized treatment for these patients.