Objective:To explore the clinical features and genetic etiology of a child with Char syndrome.Methods:A child who was presented at the Department of Child Health, Henan Children′s Hospital in February 2022 was selected as the study subject. Clinical data of the child was collected, and peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing and bioinformatic analysis.Results:The child had mainly manifested facial dysmorphism, patent ductus arteriosus, growth retardation, curving of fifth fingers and middle toes. Whole exome sequencing revealed that she has harbored a heterozygous c. 944A>C (p.Glu315Ala) variant of the TFAP2B gene, which was verified to be de novo by Sanger sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated to be likely pathogenic (PM1+ PM2_Supporting+ PM6+ PP3). Conclusion:The heterozygous c. 944A>C (p.Glu315Ala) variant of the TFAP2B gene probably underlay the Char syndrome in this child. Above finding has expanded the mutational and phenotypic spectra of the TFAP2B gene, which has facilitated early identification and diagnosis of Char syndrome.

Objective To explore the effect of preoperative hypothyroidism on postoperative cognition dysfunction (POCD) in elderly patients after on-pump cardiac surgery. Methods Patients who were no younger than 50 years and scheduled to have on-pump cardiac surgeries were selected in West China Hospital from March 2016 to December 2017. Based on hormone levels, patients were divided into two groups: a hypo group (hypothyroidism group, thyroid stimulating hormone (TSH) >4.2 mU/L or free triiodothyronine 3 (FT3) <3.60 pmol/L or FT4 <12.0 pmol/L) and an eu group (euthyroidism group, normal TSH, FT3 and FT4). The mini-mental state examination (MMSE) test and a battery of neuropsychological tests were used by a fixed researcher to assess cognitive function on 1 day before operation and 7 days after operation. Primer outcome was the incidence of POCD. Secondary outcomes were the incidence of cognitive degradation, scores or time cost in every aspect of cognitive function. Results No matter cognitive function was assessed by MMSE or a battery of neuropsychological tests, the incidence of POCD in the hypo group was higher than that of the eu group. The statistical significance existed when using MMSE (55.56% vs. 26.67%, P=0.014) but was absent when using a battery of neuropsychological tests (55.56% vs. 44.44%, P=0.361). The incidence of cognitive deterioration in the hypo group was higher than that in the eu group in verbal fluency test (48.15% vs. 20.00%, P=0.012). The cognitive deterioration incidence between the hypo group and the eu group was not statistically different in the other aspects of cognitive function. There was no statistical difference about scores or time cost between the hypo group and the eu group in all the aspects of cognitive function before surgery. After surgery, the scores between the hypo group and the eu group was statistically different in verbal fluency test (26.26±6.55 vs. 30.23±8.00, P=0.023) while was not statistically significant in other aspects of cognitive function. Conclusion The incidence of POCD is high in the elderly patients complicated with hypothyroidism after on-pump cardiac surgery and words reserve, fluency, and classification of cognitive function are significantly impacted by hypothyroidism over than other domains, which indicates hypothyroidism may have close relationship with POCD in this kind of patients.

Objective To investigate the pollution of antibiotic resistance genes (ARGs) in the Lhasa River and provide a scientific basis for the safety of drinking water for the regional population and the prevention and control of water environment pollution. Methods A total of five water samples were collected in the Lhasa River in July 2022. Using quantitative real-time polymerase chain reaction (qPCR) assay, 19 types of ARGs, including eight ^“last-resort^” ARGs (LARGs) were detected and analyzed. Statistical analysis was conducted using the SPSS 22.0 software, and Student's t-test was used to compare data between two groups. Results All the 19 ARGs were detected with high frequencies, with the aminoglycoside resistance gene aadA having the highest concentration, followed by the sulfonamide resistance gene sul1 and the macrolide resistance gene ermB. Among the eight LARGs, the carbapenem resistance gene blaOXA-48 had the highest concentration. The absolute and relative concentrations of LARGs were lower than those of common ARGs. There was a statistically significant difference in the absolute concentrations between them, but no significant difference was observed in the relative concentrations. Conclusion Both ^“conventional^” ARGs and LAGRs have been detected in the Lhasa River. Although they are at a relatively low level compared to other domestic waters, in view of the serious adverse effects that ARGs, especially LARGs, may cause, the pollution of ARGs in the Lhasa River should be taken seriously.

BACKGROUND: Postoperative pulmonary complications often lead to increased mortality and financial burden. Residual paralysis plays a critical role in postoperative pulmonary complications. This meta-analysis was performed to determine whether sugammadex overmatches neostigmine in reducing postoperative pulmonary complications. METHODS: PubMed, Embase, Web of Science, Medline through Ovid, Cochrane Library, Wanfang, China National Knowledge Infrastructure, and Chinese BioMedical Literature Databases were searched from their inception to 24 June, 2021. Random effects models were used for all analyses. Cochrane risk of bias tool was used to assess the quality of RCTs, while Newcastle Ottawa Quality Assessment Scale was used to assess for the quality of cohort studies. RESULTS: Seventeen studies were included in the meta-analysis. Pooled data from cohort studies showed reversing neuromuscular blocking with sugammadex had less risk of compound postoperative pulmonary complications (relative risk [RR]: 0.73; 95% confidence interval [CI]: 0.60-0.89; P  = 0.002; I2  = 81%), pneumonia (RR: 0.64; 95% CI: 0.48-0.86; I2  = 42%) and respiratory failure (RR: 0.48; 95% CI: 0.41-0.56; I2  = 0%). However, pooled data from RCTs did not show any difference between the two groups in pneumonia (RR: 0.58; 95% CI: 0.24-1.40; I2  = 0%) and no respiratory failure was reported in the included RCTs. The difference was not found between sugammadex and neostigmine about atelectasis in pooled data from either RCTs (RR: 0.85; 95% CI: 0.69-1.05; I2  = 0%) or cohort studies (RR: 1.01; 95% CI: 0.87-1.18; I2  = 0%). CONCLUSION: The evidence of superiority of sugammadex was limited by the confounding factors in cohort studies and small scale of RCTs. Whether sugammadex precedes neostigmine in preventing pulmonary complications after surgery is still unknown. Well-designed RCTs with large scale are needed. REGISTRATION PROSPERO ( https://www.crd.york.ac.uk/PROSPERO/ ); CRD 42020191575.
Humans ; Sugammadex/therapeutic use* ; Neostigmine/therapeutic use* ; Neuromuscular Blockade ; Postoperative Complications/prevention & control* ; Pneumonia ; Respiratory Insufficiency