Objective To explore the application of diagnostic system with artificial intelligence(AI)in the evaluation of patients with coronary heart disease(CHD)at high altitude.Methods A total of 318 pa-tients underwent coronary CT angiography(CTA)at the hospital from January to December 2022 were pro-spectively collected.According to the altitude gradient,the patients were divided into the 2 000-3 000 m group and>3 000 m group.Coronary angiography(CAG)was used as the gold standard to verify the diag-nostic performance of AI diagnostic system.Coronary artery diagnosis system with AI technology and CT de-rived fractional flow reserve(CT-FFR)measurement system were used to evaluate the plaque structure char-acteristics and hemodynamic changes in the two groups of patients.Results Calcified plaques and vulnerable plaques in the>3 000 m group were more than those in the 2 000-3 000 m group(χ2=3.976,6.482,P= 0.046,0.011).The incidence of multi-vessel coronary artery disease,moderate stenosis,severe stenosis and complete occlusion in the>3 000 m group was higher than that in the 2 000-3 000 m group,and the inci-dence of single-vessel coronary artery disease and mild stenosis in the 2 000-3 000 m group was higher than that in the>3 000 m group(P<0.05).The incidence of CT-FFR≤0.80 and<0.70 in the>3 000 m group was higher than that in the 2 000-3 000 m group(χ2=4.782,28.118,P=0.029,<0.001).The comparison with the gold standard showed that this method has high sensitivity,specificity,and diagnostic consistency(P<0.001).Conclusion The coronary diagnosis system with AI technology has certain value in the system-atic evaluation of coronary artery characteristics and hemodynamic changes in CHD patients at high altitude.

Objective:To analyze and determine the clinical and genetic characteristics of children with Helsmoortel-Van der Aa syndrome(HVDAS).Methods:Clinical data of 6 children with HVDAS treated at the First Hospital of Peking University from November 2018 to October 2022 and their family members were collected and analyzed retrospectively.Whole exome sequencing was performed on children and their family members to identify the genetic variants.Genotype and phenotype correlation was analyzed.Results:(1) Clinical analysis results: among the 6 children, there were 5 boys and 1 girl, and their age at diagnosis ranged from 11 months and 17 days to 12 years and 9 months.Six patients all presented with developmental delays/intellectual disabilities; (2) Genetic analysis results: 6 de novo ADNP variants were discovered in 6 children, including 1 initial codon deletion variant c. 1_2del, 2 nonsense variants c. 1175dup, p.(Tyr392*) and c. 2213C>G, p.(Ser738*), and 3 frameshift variants c. 2632dup, p.(Ser878Lysfs*3), c.1695_1696insATGGTATGTATGTATGTATG, p.(Val566Metfs*8) and c. 2120_2123del, p.(Asn707Serfs*8).All variants were classified as pathogenic variants by the American College of Medical Genetics and Genomics.Except the c. 2213C>G, p.(Ser738*), the other 5 variants are all novel variants that have not been reported before. Conclusions:All of the 6 cases of HVDAS showed typical clinical manifestations, and expanded the phenotype spectrum of microcephaly and tall stature.Six de novo mutations were discovered, expanding the ADNP mutation spectrum and providing accurate genetic counseling and prenatal genetic diagnosis of the disease.

Objective To explore artificial reconstruction vs artificial intelligence reconstruction in coronary artery volume rendering(VR).Methods A total of 110 coronary heart disease(CHD)patients were enrolled in the study,and underwent computed tomography arteriography.Artificial reconstruction(artificial group)and artificial intelligence reconstruction(intelligent group)were conducted in coronary artery VR.The image quality of VR and curved planar reconstruction(CPR),the diagnosis coincidence rate of arterial stenosis,and vascular reconstruction score were compared between two groups.Results The VR image quality of intelligent group was significantly higher than that of artificial group,with excellence rate of 90.91%vs 80.00%;and intelligent group scored higher than artificial group in CPR image quality(P<0.05).The differences in the diagnostic coincidence rates of arterial vessels(RCA,LAD,LCX)with no stenosis,slight stenosis,moderate stenosis,and vascular occlusion between two groups were trivial(P>0.05),while the two groups differed significantly in the diagnosis coincidence rates of mild stenosis and severe stenosis(P<0.05).The mean total score,the median value of the 3 main branches+posterior descending branch+intermediate branch+diagonal branch+blunt margin branch,and the median value of the other vascular branches were all significantly increased in intelligent group as compared with artificial group(P<0.05).Conclusion Artificial intelligence reconstruction has higher application value than artificial reconstruction in coronary artery VR.

OBJECTIVE: To improve the recognition of Familial glucocorticoid deficiency type 1 (FGD1) due to variants of melanocortin 2 receptor (MC2R) gene. METHODS: Two children with FGD1 diagnosed at the Henan Children's Hospital respectively in 2019 and 2021 were selected as the study subjects. Clinical data, treatment, follow-up and results of genetic testing were collected and retrospectively analyzed. RESULTS: Whole exome sequencing revealed that both children had harbored compound heterozygous variants of the MC2R gene, including c.433C>T (p.R145C) and c.710T>C (p.L237P) in child 1, and c.145delG (p.V49Cfs*35) and c.307G>A (p.D103N) in child 2, among which c.710T>C (p.L237P) and c.145delG (p.V49Cfs*35) were unreported previously. CONCLUSION FGD1 is clinically rare, and genetic sequencing is crucial for the definite diagnosis. Discovery of the and novel variants has enriched the mutational spectrum of the FGD1 gene.
Humans ; Child ; Glucocorticoids/therapeutic use* ; Receptor, Melanocortin, Type 2/genetics* ; Retrospective Studies ; Adrenal Insufficiency/genetics* ; Mutation

Objective:To evaluate the trend and hotspots of the research on cognitive frailty in China and abroad through literature visualization analysis.Methods:Literature related to cognitive frailty were retrieved from the databases of CNKI, Wanfang, VIP and Web of Science from January 1, 2013 to August 31, 2022 with"cognitive frailty""cognitive decline"and"cognitive impairment"as retrieval terms. Based on the visualization software CiteSpace and VOSviewer, the network map analysis was conducted on the number of publications, journal distribution, country distribution and cooperation, institution distribution and cooperation and research hotspots.Results:A total of 2 500 literatures were retrieved, including 151 in Chinese and 2 349 in English. The number of publications showed an increasing trend with time. Among Chinese journals, Chin J Mod Nurs published the most literature (10 articles), while BMC Geriatr published the most literature (105 articles) in English journals. The top 5 countries in the number of English literature published were the United States (608 articles), the United Kingdom (295 articles), Italy (271 articles), China (252 articles) and Canada (195 articles). The top 5 institutions in the number of Chinese literature published were Fudan University (12 articles), Capital Medical University (10 articles), Zhengzhou University (7 articles), Central South University (5 articles) and Huazhong University of Science and Technology (5 articles). The National Center For Geriatrics Gerontology in Japan published the most English articles (74 articles). A total of 22 Chinese keywords and 44 English keywords were included. The nodes of the network analysis diagram were closely connected and highly centralized. The Chinese and English keywords“cognitive frailty”“elderly”and“frailty”were all in the core position. The Chinese emergent words were“cognitive frailty”“heart failure”“chronic disease”and“risk prediction”. The English burst terms were“cognitive frailty”“questionnaire”“cohort study”“social isolation”and“prevention”. Conclusions:The research popularity in the field of cognitive frailty is increasing year by year, and the number of articles published in English is higher than those in Chinese. At present, the main research focus is cognitive frailty, the elderly and frailty with great differences between China and abroad.

Objective:To investigate the application of debate-based immersive experiential teaching in the nursing practice teaching of stomatology.Methods:A total of 82 nursing interns of stomatology in Beijing Tongren Hospital, Capital Medical University, were selected as research subjects and were then divided into control group and observation group using the lottery method, with 41 interns in each group. The interns in the control group received traditional teaching, while those in the observation group received debate-based immersive experiential teaching. The two groups were compared in terms of the scores of comprehensive evaluation indices, nursing thinking ability, empathy ability, and recognition of teaching. SPSS 22.0 was used to perform the chi-square test and the t-test. Results:Compared with the control group, the observation group had significant increases in the scores of theoretical examination, operation examination, nursing medical record writing, reading report writing, basic nursing, communication ability, and comprehensive performance and the total score of these dimensions ( P<0.05). Compared with the control group, the observation group also had significant increases in the scores of nursing thinking ability and empathy ability ( P<0.05). The observation group had a significantly higher degree of recognition of teaching than the control group ( P<0.05). Conclusion:In the nursing practice teaching of stomatology, debate-based immersive experiential teaching can improve the comprehensive ability, nursing thinking ability, and empathy ability of interns, with a relatively high degree of recognition of teaching.

Objective:To analyze and evaluate the impact of balance training on patients with chronic obstructive pulmonary disease (COPD).Methods:The randomized controlled trials of balance training in COPD patients in PubMed, Embase, Web of science, the Cochrane Library, CNKI, Wanfang, VIP, and Chinese Biomedical Literature Database were searched. The retrieval time was from the establishment of the database to November 20, 2022. A Meta-analysis was conducted using RevMan5.3 on balance ability, exercise ability, quality of life, and balance confidence in patients with COPD.Results:A total of 432 patients were included in 7 studies. The results of the Meta-analysis showed that compared with other training, balanced training could improve the balance ability of patients [Timed Up and Go Test: mean difference ( MD)=-2.19, 95% CI (-2.86, -1.52); P<0.001, Berg Balance Scale: MD=4.02, 95% CI (0.78, 7.27); P=0.020, the Balance Evaluation Systems Test: MD=7.83, 95% CI (0.13, 15.52); P=0.050], exercise ability [Six-Minute Walk Test: standard mean difference ( SMD)=0.21, 95% CI (0.01, 0.40); P=0.040] and quality of life [COPD Assessment Test and St. George′s Respiratory Questionnaire: SMD=-0.54, 95% CI (-1.08, -0.01); P=0.050], but balance training did not effectively enhance patients′ activity balance confidence [Activities-Specific Balance Confidence Scale: MD=9.34, 95% CI (-0.98, 19.66); P=0.080]. Conclusion:Balance training can improve the balance ability, exercise ability, and quality of life of patients with COPD, but the impact on patients′ activity balance confidence needs to be further verified.

Enterotoxigenic Escherichia coli（ETEC）infection can induce watery diarrhea，leading to dehydration，electrolyte disturbance，and even death in severe cases. Recombinant B subunit/inactivated whole-cell cholera（rBS/WC）vaccine is effective in preventing ETEC infectious diarrhea. On the basis of the latest evidence on etiology and epidemiology of ETEC，as well as the effectiveness，safety，and health economics of rBS/WC vaccine，National Clinical Research Center for Child Health（The Children’s Hospital，Zhejiang University School of Medicine）and Zhejiang Provincial Center for Disease Control and Prevention invited experts to develop expert consensus on rBS/WC vaccine in prevention of ETEC infectious diarrhea. It aims to provide the clinicians and vaccination professionals with guidelines on using rBS/WC vaccine to reduce the incidence of ETEC infectious diarrhea.

Objective:To analyze characteristics and trend of publications in digestive endoscopy quality control from 2010 to 2021.Methods:The literature on digestive endoscopy quality control from 2010 to 2021 were searched through the Web of Science core collection with the method of bibliometrics. The year of publication, journal name, country, main researchers, institutions and citations were analyzed by Web of Science. Then, the downloaded data were imported into VOSviewer for co-occurrence network analysis of the country, keywords and citations.Results:A total of 3 283 English papers on digestive endoscopy quality control were included. The number of papers from China and other countries showed an upward trend, and citations as well from 2010 to 2021. The publications were mainly from the United States (1 209, 36.8%), the United Kingdom (325, 9.9%), and China (324, 9.9%). The journal with the largest number of publications in this category was Gastrointest Endosc (241, 7.3%). The U.S. Department of Veterans Affairs had 175 publications, ranking the first among all institutions. Research topics were focused on colonoscopy, adenoma detection rate, and artificial intelligence. Conclusion:The research in digestive endoscopy quality control is booming, and the research activity is gradually increasing. Chinese academic influence in this field still needs to be further improved.

OBJECTIVE: To analyze the clinical characteristics and genetic variants in a two-month-and-one-day male infant with aldosterone synthase deficiency. METHODS: Clinical data of the child was collected. Whole exome sequencing was carried out by next generation sequencing(NGS). Candidate variants were verified by Sanger sequencing. RESULTS: The infant had measured 54 cm (-2.1 SD) in length and 3.9 kg (-2.8 SD) in weight, and featured recurrent vomiting, poor feeding, apathetic appearance and failure to thrive. Blood electrolyte testing showed low sodium and increased potassium. Serum cortisol, adrenocorticotrophic hormone, 17-alpha-hydroxyl progesterone, androstenedione, and testosterone were all within the normal ranges. The plasma renin activity activity was increased, and plasma aldosterone level was low. NGS revealed that the infant has harbored compound heterozygous variants of the CYP11B2 gene, namely c.1334T>G(p.Phe445Cys) inherited from his father and c.1121G>A(p.Arg374Gln) inherited from his mother. Neither variant was reported previously, and both were predicted to be deleterious for the function of the protein product. CONCLUSION The compound heterozygous variants of c.1334T>G (p.Phe445Cys) and c.1121G>A (p.Arg374Gln) of the CYP11B2 gene probably underlay the disease in this patient.
Child ; Cytochrome P-450 CYP11B2/genetics* ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Mutation ; Whole Exome Sequencing