Objective:To explore the clinical and molecular basis for a Chinese pedigree affected with Complete androgen insensitivity syndrome (CAIS).Methods:A CAIS pedigree presented at Tianjin Medical University General Hospital between 2019 and 2021 was selected as the study subject. Clinical data of the proband was collected, along with peripheral blood samples from the proband and her family members. Chromosomal karyotyping, sex-determining region of the Y chromosome ( SRY) testing, and next-generation sequencing (NGS) were carried out for the proband, and candidate variant was verified by Sanger sequencing of her family members. Prenatal diagnosis was provided for the sister of the proband. This study was approved by Medical Ethics Committee of the Tianjin Medical University General Hospital (Ethics No. IRB2023-WZ-070). Results:The 18-year-old proband, who has a social gender of female, underwent laparoscopic examination, which showed no presence of uterus and ovaries. The karyotype of peripheral blood sample was 46, XY, with SRY gene detected. NGS indicated that the proband has harbored a heterozygous c. 1988C>G (p.Ser663Ter) variant of the AR gene. Sanger sequencing confirmed that her mother and sister had both harbored the same variant, whilst her father and younger sister were of the wild-type. Prenatal diagnosis revealed that her sister′s first fetus had harbored carried the same variant, which had led to termination of pregnancy. Her second fetus did not carry the variant, and a healthy boy was born. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_Supporting+ PM4+ PP3_Moderate+ PP4). Conclusion:The c. 1988C>G (p.Ser663Ter) variant of the AR gene probably underlay the CAIS in the proband. The accurate diagnosis of sex development disorders will rely on the physicians′ thorough understanding of the clinical symptoms and pathogenic genes. Genetic testing and counseling can enable precise diagnosis, prenatal diagnosis, and guidance for reproduction

Objective: To investigate the prevalence and influencing factors of caries among Tibetan primary school students in Maqu County, Gansu Province, so as to provide insights into caries control among children living in ethnic minority areas. Methods: Tibetan primary school students at grades three to six were sampled from two primary schools in Maqu County using a multi-stage cluster sampling method. Primary school students' demographics, dietary habits and oral health habits were collected using questionnaire surveys, and the caries was tested. Factors affecting the development of caries were identified using a multivariable Poisson regression model. Results: A total of 378 Tibetan primary school students were tested, and there were 334 students with caries, with a caries prevalence rate of 86.30%, and a mean caries number of (4.72±2.69) teeth. Multivariable Poisson regression analysis showed that grade (grade 5, IRR=0.791, 95%CI: 0.706-0.886; grade 6, IRR=0.698, 95%CI: 0.593-0.822), frequency of vegetable intake (less than once daily, IRR=0.872, 95%CI: 0.778-0.978; once daily, IRR=0.769, 95%CI: 0.677-0.873; twice and more daily, IRR=0.571, 95%CI: 0.469-0.696), frequency of tooth brushing (once daily, IRR=0.814, 95%CI: 0.734-0.904; twice and more daily, IRR=0.606, 95%CI: 0.521-0.703) and frequency of oral examinations (IRR=0.736, 95%CI: 0.594-0.911) were influencing factors of caries. Conclusion The prevalence of caries is 86.30% among Tibetan primary school students at grades 3 to 6 in Maqu County, and age, dietary habit and oral health habit are factors affecting the development of caries.

Abstract: Objective　To identify the species of Mycobacteroides abscessus complex (MABC) in patients with pulmonary infection from the Second Affiliated Hospital of Hainan Medical University, and to investigate the species types, drug sensitivity and population distribution of MABC in pulmonary infection in Hainan. Methods　Respiratory tract specimens were collected from suspected tuberculosis patients who visited the Second Affiliated Hospital of Hainan Medical University from January 2014 to December 2021 and cultured for Mycobacterium isolation. Non-tuberculous mycobacteria (NTM) strains were preliminarily identified by p-nitrobenzoic acid/thiophen-2-carbohydrazide (PNB/TCH) medium and DNA microarray chip, and then MABC and its subspecies were identified by hsp65 and rpoB gene sequencing. In vitro antimicrobial susceptibility test was performed by broth microdilution method. Results　A total of 3 025 respiratory specimens from suspected pulmonary tuberculosis patients were collected during the study period. Among the 123 patients with identified MABC isolates, 124 MABC strains were isolated and identified, including 74 strains of Mycobacteroides abscessus subsp. abscessus, 38 strains of Mycobacteroides abscessus subsp. massiliense and 12 strains of Mycobacteroides abscessus subsp. bolletii. Among them, 118 patients had single MABC subspecies infection, one patient had mixed infection with two MABC subspecies, two patients had mixed infection with MABC and other NTM, and two cases had mixed infection with MABC and M.tuberculosis. There were more female patients than male patients with a ratio of 1:0.64, and those aged 50 and above amounted to 76.42% (94/123, 95%CI: 67.93%-83.61%). There was no significant difference in age distribution between male and female patients (Z=-0.944, P=0.347). The drug susceptibility results showed that all MABC strains were sensitive to Tigecycline (TGC), with a resistance rate of 0.81% (1/124) to Amikacin (AK), and resistance rates of 6.45% (8/124), 32.26% (40/124), and 74.19% (92/124) to Cefoxitin (FOX), Linezolid (LZD), and Imipenem (IPM), respectively. For Clarithromycin (CLR), MABC showed induced resistance , and there was a statistically significant difference in the CLR (14D) resistance rates among the three subspecies (χ2=66.335, P<0.001). The resistance rates to Tobramycin (TOB), Doxycycline (DOX), Moxifloxacin (MFX), Ciprofoxacin (CIP), Trimethoprim/Sulfamethoxazole (TMP-SMX), and Amoxicillin/Clavulanic acid (AMC) were high, all >80%. Conclusion　 In Hainan Province, pulmonary infections with MABC are mainly caused by Mycobacteroides abscessus subsp. Abscessus, which show high rates of inducible resistance to CLR. Timely and accurate identification of MABC to subspecies and drug susceptibility testing are of significant important for clinical decision-making.

Objective This study aimed to conduct a systematic review and meta-analysis of randomized controlled trials(RCTs)assessing the clinical efficacy of acupuncture for chronic stable angina(CSA).Methods PubMed,The Cochrane Library,Embase,CNKI,VIP,WanFang Data,CBM databases,ClinicalTrial.gov and Chinese Clinical Trial Registry were electronically searched to collect randomized controlled trials(RCTs)of acupuncture for CSA and only RCTs that included acupuncture as the sole or combination of acupuncture in the treatment of CSA.The retrieval period was from the establishment of the database to May 19,2022.The primary outcome measure was the frequency of angina attacks,and the secondary outcome measures were angina efficacy,total effective rate of ECG improvement,nitroglycerin use after treatment,patient-perceived overall effectiveness,performance on the Six-Minute Walk Test(6-MWT),depression as measured by the anxiety as measured by the Self-Rating Anxiety Scale(SAS),Self-Rating Depression Scale(SDS),adverse effects.Results Twelve studies with a total of 1605 case subjects were included and grade quality of evidence reviews had 1 outcomes as medium quality evidence,5 outcomes as low quality evidence and 4 outcomes as very low quality evidence.Acupuncture treatment resulted in significantly greater reductions in angina attacks,visual analog scale(VAS),6-minute walk test,angina efficacy,electrocardiogram improvement rate,angina efficacy,total clinical response rate.Conclusion The efficacy of acupuncture combined with western medicine in treating CSA is better than that of Western medicine alone,thanks to restricted by the number and quality of included researchs,higher quality studies are required to prove above conclusions.

In this study,a functionalized covalent-organic framework(COF)was first synthesized using porphyrin as the fabrication unit and showed an edge-curled,petal-like and well-ordered structure.The synthesized COF was then introduced to prepare porous organic polymer monolithic materials(POPMs).Two com-posite POPM/COF monolithic materials with rod shapes,referred to as sorbent A and sorbent B,were prepared in stainless steel tubes using different monomers.Sorbents A and B exhibited relatively uniform porous structures and enhanced specific surface areas of 153.14 m2/g and 80.01 m2/g,respectively.The prepared composite monoliths were used as in-tube solid-phase extraction(SPE)sorbents combined with HPLC for the on-line extraction and quantitative analytical systems.Indole alkaloids(from Catharanthus roseus G.Don and Uncaria rhynchophylla(Miq.)Miq.Ex Havil.)contained in mouse plasma were extracted and quantitatively analyzed using the online system.The two composite multifunctional monoliths showed excellent clean-up ability for complex biological matrices,as well as superior selec-tivity for target indole alkaloids.Method validation showed that the RSD values of the repeatability(n=6)were≤3.46％,and the accuracy expressed by the spiked recoveries was in the ranges of 99.38％-100.91％and 96.39％-103.50％for vinca alkaloids and Uncaria alkaloids,respectively.Furthermore,sorbents A and B exhibited strong reusability,with RSD values≤5.32％,which were based on the peak area of the corresponding alkaloids with more than 100 injections.These results indicate that the composite POPM/COF rod-shaped monoliths are promising media as SPE sorbents for extracting trace compounds in complex biological samples.

Objective:To explore the value of panoramic teaching in clinical practice teaching of department of respiratory medicine.Methods:A total of 35 clinical interns who had a 3-week rotation in the department of respiratory medicine from October 2019 to June 2020 were selected, and they were divided into a control group ( n=17) and a study group ( n=18) according to the order of admission. The control group used traditional teaching, and the research group used panoramic teaching. After the teaching, the teaching effect was evaluated through theoretical knowledge assessment, practical assessment and questionnaire survey. SPSS 19.0 was used for t test. Results:There was no statistically significant difference between the two groups of interns in theoretical assessment [(89.62±4.05) points vs. (90.84±4.12) points, t=-0.891, P=0.379]. The results of practice assessment (case analysis, physical examination of the department, medical history inquiry and skills manipulation) of the study group were significantly higher than those of the control group ( P<0.05). The interns in study group were better than those in control group in such aspects as learning interest, self-learning ability, self-study ability, doctor-patient communication language expression ability, literature review ability, clinical thinking ability, comprehensive analysis ability, knowledge development ability, system diagnosis ability, teamwork ability and teaching satisfaction ( P<0.05). Conclusion:Panoramic teaching can effectively improve the ability of interns to master the clinical diagnosis and treatment of respiratory medicine, improve the teaching effect, and improve the learning ability and clinical competence of interns in the future.

Objective:To analyze the genomic characteristics of H7N9 avian influenza virus in external environment in Huainan city in 2016.Methods:Samples such as poultry feces, cages, table or cutting board, depilator, poultry drinking water and sewage in live poultry markets were collected. PCR positive samples of H7N9 and H9 subtypes ( Ct value ≤30) were selected. RNA was extracted from chicken embryos after isolation and culture. Results:Fourty-six H7N9 subtypes, 71 H9 subtypes and 38 H5 subtypes were detected from 150 environmental samples in Huainan city in 2016. Two H7N9 subtypes were successfully isolated. Genetic evolution analysis showed that the hemagglutinin (HA) and neuraminidase (NA) genes of the two H7N9 strains in Huainan city were in the branch of the Yangtze river delta, while the other six endogenous genes had no obvious regional distribution and clustering. G186V and Q226L of HA receptor site amino acids mutated. NA stem area missed "QISNT" sequence, while R294K and E119V resistance sites showed no variation. PA gene I550L, PB1 gene I368V and PB2 gene I504V were mutated in the polymerase. The N205S and P42S of the NS-1 gene changed to enhance the pathogenicity. M1 gene N30D, T215A, M2 gene S31N drug resistance gene loci mutated.Conclusions:The avian influenza virus was highly prevalent in the live poultry market in Huainan city in 2016. Meanwhile, the ability of the H7N9 subtypes to infect humans has increased. M2 ion channel inhibitor (related to the M2 gene) developed resistance, while NA inhibitors (related to the NA gene) remain susceptible and effective drugs.

Objective:To analyze the genomic characteristics of H9N2 subtype avian influenza virus in external environmental specimens collected in Huainan city from February to April, 2016.Methods:Specimens positive for H9N2 nucleic acid (Ct value≤30) were screened by fluorescent PCR and cultivated in chicken embryos to extract RNA. Eight gene segments were amplified and analyzed with whole genome sequencing. The molecular characteristics of each gene segment of Huainan strains were analyzed. A phylogenetic tree was constructed based on the sequences.Results:The hemagglutinin (HA) and neuramidinase (NA) genes of two Huainan H9N2 avian influenza strains and the human-derived strain A/Anhui-Lujiang/39/2018/H9N2 shared the homology of 98.2%-98.3% and 97.2%-94.9% in nucleotide and 98.9%-98.8% and 99.2%-98.6% in amino acid. The other six endogenous genes were highly homologous to those of the A/Anhui/1/2013/H7N9 and A/Anhui/33163/2016/H5N6 strains. The phylogenetic tree showed that two H9N2 subtype avian influenza strains isolated in Huainan city in 2016 belonged to G57 genotype, and the endogenous genes of two Huainan H7N9 isolates and human-derived A/Anhui/1/2013/ H7N9 and A/Anhui/33163/2016/H5N6 strains were G57-like genotype. Amino acid mutations in the HA protein receptor binding domain including S132D, K138T, T189D, V/A190T and Q226L were detected. The " TEI" sequence was deleted from the NA stem region. Amino acid mutations associated with drug resistance including H274Y, R292K and N294S were not detected in the isolates, but they carried the mutations of I550L in PA gene, I368V in PB1 gene, I504V in PB2 gene, P42S in NS1 gene, N30D and T215A in M1 gene and S31N in M2 gene.Conclusions:The two H9N2 viruses isolated in the live poultry market in Huainan city were highly homologous to the A/Anhui-Lujiang/39/2018/H9N2 strain isolated from humans. The three strains were within the same evolutionary branch and belonged to G57 genotype. The endogenous genes of the two H9N2 viruses could recombine with H7N9 and H5N6 subtype avian influenza viruses that caused human infection. Amino acid mutations in the HA protein receptor binding domain, deleted sequences in the NA stem region and increased polymerase activity strengthened the ability of viruses to infect humans and were related to the drug resistance to M2 ion channel inhibitors (adamantane). The two Huainan H9N2 viruses remained sensitive to NA inhibitors (oseltamivir phosphate).

Objective To understand the infection status and distribution characteristics of human papillomavirus (HPV)in fe-male genital tract in Fengxian district of Shanghai City in order to provide preliminary recommendations for prevention and treat-ment of HPV in this area.Methods The women aged over 1 6 years old receiving HPV testing in the Southern branch Hospital of Shanghai Sixth People′s Hospital From January 2011 to December 2015 were taken as the research subjects and their cervical secre-tions were performed the HPV 21 subtypes detection,among them,1 374 cases underwent colposcopic fixed point biopsy of cervix for determining the pathological grade.Then the data were recorded and analyzed by the SPSS20.0 software.Results Twenty-one HPV subtypes were detected,in which the HPV positive rate was 17.54% (6 313/35 977),and types with high HPV infection rate in these five years were in turn HPV18,HPV52,HPV16,HPVCP8304,HPV58,HPV53,HPV53,HPV53 and HPV58;the HPV positive rate in 1374 cases of cervical lesions was 82.75% (237/1 374),the common types distributions in cervical lesions were HPV16,HPV58,HPV52,HPV18 and HPV31 respectively.Conclusion The HPV infection situation in Fengxian district of Shang-hai City has certain regional characteristics.Then the HPV prevention and treatment strategy suitable for this region may be formu-lated according to the research results.

Objective To observe the detection value of α-L-fucosidase (AFU) in gestational diabetes mellitus (GDM) and the correlation of AFU with total bile acids (TBA).Methods Anthropometric parameters and serum biochemical indexes were recorded and 75 g OGTT was performed then according to OGTT result,patients with GDM were confirmed and matched the control group by age and BMI.Results The level of AFU in GDM group was higher than that that of normal glucose tolerance (NGT) group and associated with 1 hour postprandial glucose.After correcting ALT and HbA1c,AFU correlated with TBA.Conclusions During pregnancy,AFU has reference value for the diagnosis of GDM and 1 hour postprandial glucose is its independent factor.The rise AFU is combined with the decrease of.DBIL but the increase of TBA and ALP,which indicates bile duct system in patients with GDM is in an active state.