OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) and trio-whole exome sequencing (trio-WES) for fetuses with increased nuchal translucency (NT) thickness. METHODS: Sixty two pregnant women who had visited Urumqi Maternal and Child Care Health Hospital between June 2018 and June 2020 for NT ≥ 3.0 mm at 11 ~ 13⁺⁶ gestational weeks were selected as study subjects. Relevant clinical data were collected. The patients were divided into 3.0 ~ ＜3.5 mm (n = 33) and ≥3.5 mm groups (n = 29). Chromosome karyotyping analysis and chromosomal microarray analysis were carried out. And trio-WES analysis was performed on 15 samples with NT thickening but negative CMA results. The distribution and incidence of chromosomal abnormalities in the two groups were compared by using chi-square test. RESULTS: The median age of the pregnant women was 29 years old (22 ~ 41 years old), the median thickness of NT was 3.4 mm (3.0 ~ 9.1 mm), and the median gestational age at the detection was 13⁺⁴ weeks (11⁺⁵ ~ 13⁺⁶ weeks). Chromosome karyotyping analysis has detected 12 cases of aneuploidies and 1 case of derivative chromosome. The detection rate was 20.97% (13/62). CMA has detected 12 cases of aneuploidies, 1 case of pathogenic CNV and 5 cases of variant of uncertain significance (VUS), with a detection rate of 29.03% (18/62). The aneuploidy rate for the NT ≥ 3.5 mm group was higher than that for the 3.0 ≤ NT < 3.5 mm group [3.03% (1/33) vs. 41.38% (12/29), χ² = 13.698, P < 0.001]. There was no statistically significant difference between the two groups in the detection rate of fetal pathogenic CNV and VUS (χ² = 0.028, P > 0.05). Trio-WES analysis of 15 samples with negative CMA result and no structural abnormality has identified 6 heterozygous variants, including SOS1: c.3542C>T (p.A1181V) and c.3817C>G (p.L1273V), COL2A1: c.436C>T (p.P146S) and c.3700G>A (p.D1234N), LZTR1: c.1496T>C (p.V499A), and BRAF: c.64G>A (p.D22N), respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were rated as VUS. CONCLUSION NT thickening can indicate chromosome abnormality, and CMA and trio-WES may be used for the prenatal diagnosis.
Pregnancy ; Humans ; Female ; Adult ; Infant ; Nuchal Translucency Measurement/methods* ; Prenatal Diagnosis/methods* ; Chromosome Aberrations ; Aneuploidy ; Fetus/diagnostic imaging* ; Ultrasonography, Prenatal ; DNA Copy Number Variations ; Transcription Factors

Objective:To investigate the distribution and antimicrobial resistance profile of clinical bacteria isolated from blood culture in China.Methods:The clinical bacterial strains isolated from blood culture from member hospitals of Blood Bacterial Resistant Investigation Collaborative System (BRICS) were collected during January 2018 to December 2019. Antibiotic susceptibility tests were conducted with agar dilution or broth dilution methods recommended by US Clinical and Laboratory Standards Institute (CLSI). WHONET 5.6 was used to analyze data.Results:During the study period, 14 778 bacterial strains were collected from 50 hospitals, of which 4 117 (27.9%) were Gram-positive bacteria and 10 661(72.1%) were Gram-negative bacteria. The top 10 bacterial species were Escherichia coli (37.2%), Klebsiella pneumoniae (17.0%), Staphylococcus aureus (9.7%), coagulase-negative Staphylococci (8.7%), Pseudomonas aeruginosa (3.7%), Enterococcus faecium (3.4%), Acinetobacter baumannii(3.4%), Enterobacter cloacae (2.9%), Streptococci(2.8%) and Enterococcus faecalis (2.3%). The the prevalence of methicillin-resistant S. aureus (MRSA) and methicillin-resistant coagulase-negative Staphylococcus were 27.4% (394/1 438) and 70.4% (905/1 285), respectively. No glycopeptide-resistant Staphylococcus was detected. More than 95% of S. aureus were sensitive to amikacin, rifampicin and SMZco. The resistance rate of E. faecium to vancomycin was 0.4% (2/504), and no vancomycin-resistant E. faecalis was detected. The ESBLs-producing rates in no carbapenem-resistance E. coli, carbapenem sensitive K. pneumoniae and Proteus were 50.4% (2 731/5 415), 24.6% (493/2001) and 35.2% (31/88), respectively. The prevalence of carbapenem-resistance in E. coli and K. pneumoniae were 1.5% (85/5 500), 20.6% (518/2 519), respectively. 8.3% (27/325) of carbapenem-resistance K. pneumoniae was resistant to ceftazidime/avibactam combination. The resistance rates of A. baumannii to polymyxin and tigecycline were 2.8% (14/501) and 3.4% (17/501) respectively, and that of P. aeruginosa to carbapenem were 18.9% (103/546). Conclusions:The surveillance results from 2018 to 2019 showed that the main pathogens of bloodstream infection in China were gram-negative bacteria, while E. coli was the most common pathogen, and ESBLs-producing strains were in majority; the MRSA incidence is getting lower in China; carbapenem-resistant E. coli keeps at a low level, while carbapenem-resistant K. pneumoniae is on the rise obviously.

Ferroptosis is a non-apoptotic regulated cell death caused by iron accumulation and subsequent lipid peroxidation. Currently, the therapeutic role of ferroptosis on cancer is gaining increasing interest. Baicalin an active component in

Objective:Based on 108, 591 cases of pediatric emergency visits in a Level Ⅲ Grade A women and children′s hospital in Guangzhou area, we analyze the disease spectrum and epidemiological characteristics, and summarize the characteristics of patient flow changes.These investigations will provide an basis for scientific decision-making for manpower and material resource management of pediatric emergency and hospital workflow design.Methods:The children admitted to the Pediatric Emergency Department of the Zhujiang New Town District of Guangzhou Women and Children′s Medical Center from October 2016 to September 2018, including night emergency and inpatient observations, were analyzed according to the admission date, admission time, gender, age, initial diagnosis and etc.Results:There were more boys than girls in the emergency department, whose ratio was 1.46∶1 (64 480∶44 111 cases). The age of children ranged from 0 to 17 years old, with a median of 11 (23, 48) months.The age distribution was mainly under 5 years old, accounting for 84.14% (91 336/108 591). During the whole year, the number of children in July was the most, accounting for 10.53% (11 433/108 591), and the children in February were the least, accounting for 6.04% (6 555/108 591). The highest visit time of the whole day was 22-23 pm, accounting for 18.83% (20 443/108 591). The most of the diagnosis was respiratory disease, accounting for 53.83% (66 522/123 576). A total of 1 057 critically ill children were received, accounting for 0.97% (1 057/108 591). A total of 911 accidental injuries were received, accounting for 0.84% (911/108 591). Acute upper respiratory tract infection was the most among all diagnoses, accounting for 34.47% (42 541/123 576).Conclusion:Children in the pediatric emergency department of Guangzhou Women and Children′s Medical Center are mainly under 5 years old, and the number of children is the most in July of the year.The main disease is respiratory diseases.Medical staff can be trained according to the actual situation, and the disease spectrum can be updated in time to provide convenience for emergency rescue and improve service level.

Objective:To investigate the distribution and antimicrobial resistance profile of clinical bacteria isolated from blood culture in China.Methods:The clinical bacterial strains isolated from blood culture from member hospitals of Blood Bacterial Resistant Investigation Collaborative System (BRICS) were collected during January 2016 to December 2017. Antibiotic susceptibility tests were conducted by agar dilution or broth dilution methods recommended by US Clinical and Laboratory Standards Institute (CLSI) 2019. WHONET 5.6 was used to analyze data.Results:During the study period, 8 154 bacterial strains were collected from 33 hospitals, of which 2 325 (28.5%) were Gram-positive bacteria and 5 829 (71.5%) were Gram-negative bacteria. The top 10 bacterial species were Escherichia coli (34.7%), Klebsiella pneumoniae (15.8%), Staphylococcus aureus (11.3%), coagulase-negative Staphylococci (7.4%), Acinetobacter baumannii (4.6%), Pseudomonas aeruginosa (3.9%), Enterococcus faecium (3.8%), Streptococci (2.9%), Enterobacter cloacae (2.7%) and Enterococcus faecalis (2.5%). Methicillin-resistant Staphylococcus aureus (MRSA) and methicillin-resistant coagulase-negative Staphylococcus (MRCNS) accounted for 34.2%(315/922) and 77.7%(470/605), respectively. No vancomycin-resistant Staphylococcus was detected. The resistance rate of Enterococcus faecium to vancomycin was 0.6%(2/312), and no vancomycin-resistant Enterococcus faecium was detected. The ESBLs-producing rates in Escherichia coli, Klebsiella pneumoniae and Proteus were 55.7%(1 576/2 831), 29.9%(386/1 289) and 38.5%(15/39), respectively. The incidences of carbapenem-resistance in Escherichia coli, Klebsiella pneumoniae were 1.2%(33/2 831), 17.5%(226/1 289), respectively. The resistance rates of Acinetobacter baumannii to polymyxin and tigecycline were 14.8%(55/372) and 5.9%(22/372) respectively, and those of Pseudomonas aeruginosa to polymyxin and carbapenem were 1.3%(4/315) and 18.7%(59/315), respectively. Conclusion:The surveillance results from 2016 to 2017 showed that the main pathogens of blood stream infection in China were gram-negative bacteria, while Escherichia coli was the most common pathogen; the MRSA incidence was lower than other surveillance data in the same period in China; carbapenem-resistant Escherichia coli was at a low level during this surveillance, while carbapenem-resistant Klebsiella pneumoniae is on the rise.

Objective: The Four Medical Tantras is a classic work of Tibetan medicine, in which drug treatment is one of the four main treatment methods, and prescriptions are the main form of clinical drug use. The study on the medication rules of The Four Medical Tantras has positive significance for the clinical medication research of Tibetan medicine. Method: Prescriptions recorded in Secret Medical Code and Follow-up Medical Code from The Four Medical Tantras were collected, the prescription database was constructed by Visual FoxPro 9.0, combined the dual perspectives of the " fifteen categories" (skabs bco lnga) of Tibetan medical diseases and the " eighteen practices" (lag len bco brgyad) of treatment, and Gephi 0.9.2 complex network was used to analyze its medication rules. Result: The Four Medical Tantras contained 2 695 Tibetan medicine prescriptions, average number of drugs in each prescription was 6.6, prescription composed of ≤ 7 drugs accounted for 69.2%of the total prescription. There were 1 002 kinds of medicines involved in the total prescription, of which 156 was the nodal degrees of Chebulae Fructus, Bambusae Concretio Silicea, Carthami Flos, Piperis Longi Fructus and Zingiberis Rhizoma and so on; followed by 91 nodal degrees of butter (mar), sugar, barley sweetener (sbang ma), honey and brown sugar and so on, which were Tibetan medicinal and edible medicines. According to the classification of diseases in the fifteen categories, there were 495 prescriptions for traumatology (mtshon rma), 323 for fever (tsha ba), 278 for toxics and 197 for three factors diseases. According to the treatment method of eighteen practices, 162 powder, 77 decoction, 84 laxative (bxhal) and others were used. Association rule analysis found that edge weights of Borneolum Syntheticum, Bambusae Concretio Silicea, Carthami Flos, Santali Albi Lignum and other cold medicines were 59, edge weights of pomegranate seeds, Piperis Longi Fructus, Cinnamomi Cortex, Amomi Fructus Rotundus and other warm medicines were 45. Conclusion: The Four Medical Tantras has some characteristics, including the medication rules of elliptic philosophy with cool-warm medicinal properties as the dual core, elimination-diarrhea (zhi-sbyong) as medication methods, weight of rlung-mkhris pa-bad kan as medication dialectical thinking and so on. Among them, the clinical application of butter, barley sweetener, sugar and other special delivery agents of Tibetan medicine is prominent. The prominent clinical application of special Tibetan medicines embodies the philosophy of Tibetan culture with the emphasis on overall balance. It has the multi-dimensional medication rule of " diet plus medicine, medicine plus therapy", and has positive significance for revealing the research on medication rules of Tibetan medicine.

Objective To analyze the distribution and antimicrobial resistance profile of clinical bacterial strains isolated from blood culture in China.Methods Clinical bacterial strains isolated from blood culture from participating hospitals of Blood Bacterial Resistance Investigation Collaborative System (BRICS) during January 2014 to December 2015 were collected.Antibiotic susceptibility tests were conducted with agar dilution or broth dilution methods as recommended by US Clinical and Laboratory Standards Institute(CLSI)2018.The data were analyzed with Whonet 5.6 software.Results During the study period,4 801 clinical bacterial isolates were collected from 26 hospitals,of which 1 798 (37.5％) were Gram-positive bacteria and 3 003 (62.5％) were gram-negative bacteria.The top 10 isolates were Escherichia coli (33.8％),coagulase-negative Staphylococcus (19.0％),Klebsiella pneumoniae (11.9％),Staphylococcus aureus (10.1％),Acinetobacter baumannii (4.0％),Pseudomonas aeruginosa (3.8％),Streptococcus (3.0％),Enterobacter sulcus (2.9％),Enterococcus faecium (2.8％) and Enterococcus faecalis (1.8％).Methicillin-resistant Staphylococcus aureus (MRSA) and methicillinresistant coagulase-negative Staphylococcus (MRCNS) accounted for 33.9％ (165/487) and 56.9％ (520/913) of Staphylococcus aureus and coagulase-negative Staphylococcus respectively.No vancomycinresistant Staphylococcus was detected.The resistance rate of Enterococcus faecium to vancomycin was 0.7％ (1/135),and no vancomycin-resistant Enterococcus faecaliss was detected.The positive rates of extendedspectrum β-1actamases(ESBLs)-producing Escherichia coli,Klebsiella pneumoniae and Proteus were 56.9％ (923/1 621),30.1％ (172/572) and 29.2％ (7/24),respectively.The positive rates of carbapenemresistant Escherichia coli,Klebsiella pneumoniae,Enterobacter,Salmonella and Citrobacter were 1.2％ (20/1 621),7.2％ (41/572),4.3％ (6/141),1.5％ (1/67) and 2.9％ (1/34),respectively.The resistance rates of Acinetobacter baumannii to polymyxin and tegacycline were 2.6％ (5/190) and 8.9％ (17/190)respectively,and that of Pseudomonas aeruginosa to polymyxin and fosfomycin were 1.1％ (2/183)and 0.6％ (1/183),respectively.Conclusions The surveillance results from 2014 to 2015 show that the main pathogens of blood stream infection in China are Gram-negative bacteria,while Escherichia coli is the most common pathogen,the detection rate of MRSA is lower than other surveillance data in the same period in China;carbapenem-resistant Klebsiella pneumoniae and Escherichia coli are at a low level as shown in this surveillance.

OBJECTIVETo assess the application value in prenatal diagnosis using karyotype analysis combined with BACs-on-Beads (BoBs) assay.

METHODSNine hundred sixty five pregnant women were subjected to amniocentesis, chromosomal karyotype analysis and detection of BoBs were employed simultaneously for abnormal number of chromosomes and 9 chromosome microdeletion syndrome in prenatal diagnosis.

RESULTSFifty cases common chromosome aneupoidies were successfully detected by both karyotype analysis and BoBs which included 31 cases of trisomy 21,10 cases of trisomy 18 and 9 cases with sex chromosome abnormality. BoBs in addition detected 1 case of DiGeorge-1 microdeletion syndrome and 1 case of 7q11.23 microduplication syndrome. All 9 fetuses with chromosome abnormalities detected by karyotyping were missed by BoBs, including 2 cases of marker chromosomes,4 cases of chromosomal translocation,1 case of chromosomal inversion, 2 cases of Sex chromosome mosaicism; 2 cases of fetal inherited from the parents,7 cases for novel mutations.

CONCLUSIONKaryotype analysis combined with BoBs dedtection is a rapid, effective and highly accurate prenatal diagnosis model that may should be widely used in clinical diagnosis.

OBJECTIVETo explore the application of combined techniques for the prenatal diagnosis of a case with 7q11.23 duplication.

METHODSAmniocentesis was performed in the second trimester for a mother with a high risk suggested by serological prenatal screening. G-banded chromosomal analysis was performed on cultured amniocytes and peripheral blood samples from both parents. DNA from amniotic fluid sample was isolated for a BACs-on-Beads (BoBs) assay. To define the range of duplication, copy number variation was determined with single nucleotide polymorphism array (SNP array, Affymetrix CytoScan 750K) and fluorescence in situ hybridization (FISH) analysis.

RESULTSChromosomal analysis suggested that the fetus and both parents all had a normal karyotype, while a duplication of 7q11.23 was detected by the BoBs assay. SNP array revealed a 1.5 Mb duplication in chromosome 7q11.23, which was confirmed by FISH.

CONCLUSIONCombined prenatal BoBs, SNP array and FISH has enabled effective diagnose of a case with 7q11.23 syndrome.

Adult ; Chromosome Banding ; Chromosome Disorders ; diagnosis ; embryology ; genetics ; Chromosomes, Human, Pair 7 ; genetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Male ; Middle Aged ; Pregnancy ; Prenatal Diagnosis ; Trisomy ; genetics

Objective:To explore diagnostic effects of 24h dynamic electrocardiogram (DCG) on pacemaker-induced rapid arrhythmias of different locations.Methods: Clinical data of 86 patients, who received pacemaker implantation in our hospital from Feb 2013 to Jan 2016, were retrospectively analyzed.According to ventricular electrode placement location, patients were divided into right ventricular septum (RVS) pacing group (RVS group, n=43) and right ventricular apex (RVA) pacing group (RVA group, n=43).The Tp-Te interval and occurrence of arrhythmias detected by 24h DCG were recorded and compared between two groups.Results: All patients received pacemaker implantation successfully, and pacemaker was fixed on RVS or RVA.There were no significant difference in pacing threshold, impedance and R wave amplitude between two groups, P>0.05 all.Compared with RVA group, there were significant reductions in Tp-Te intervals of V3 lead [(102.78±19.24)ms vs.(94.39±18.56)ms] and V4 lead [(96.39±13.11)ms vs.(85.87±14.59)ms] in RVS group (P=0.001 both).There were no significant difference in incidence rates of sinus arrest, II° sinoatrial block, atrioventricular block, atrial premature beats, transient paroxysmal atrial tachycardia and ventricular premature beats between two groups (P>0.05 all).Conclusion: The 24h DCG indicates that compared with RVA pacing, the Tp-Te interval of RVS pacing group significantly shorten, it may can better protect cardiac function.