Mutations in myosin heavy chain 7(MYH7)and myosin binding protein C3(MYBPC3)genes encoding thick filaments are the main cause of hypertrophic cardiomyopathy(HCM),while a small part of HCM is caused by mutations of troponin C1,slow skeletal and cardiac type(TNNC1),troponin T2,cardiac type(TNNT2),troponin I3,cardiac type(TNNI3),actin alpha cardiac muscle 1(ACTC1),and tropomyosin 1(TPM1)genes encoding thin filaments.In this review,we mainly introduce the detailed mechanism and research status of HCM caused by mutations of the gene encoding cardiomyocyte sarcomere in the past few years,in order to provide reference for further study of the pathogenesis and treatment of HCM.

Objective To monitor the susceptibility of clinical isolates to antimicrobial agents in tertiary hospitals in major regions of China in 2022.Methods Clinical isolates from 58 hospitals in China were tested for antimicrobial susceptibility using a unified protocol based on disc diffusion method or automated testing systems.Results were interpreted using the 2022 Clinical &Laboratory Standards Institute(CLSI)breakpoints.Results A total of 318 013 clinical isolates were collected from January 1,2022 to December 31,2022,of which 29.5％were gram-positive and 70.5％were gram-negative.The prevalence of methicillin-resistant strains in Staphylococcus aureus,Staphylococcus epidermidis and other coagulase-negative Staphylococcus species(excluding Staphylococcus pseudintermedius and Staphylococcus schleiferi)was 28.3％,76.7％and 77.9％,respectively.Overall,94.0％of MRSA strains were susceptible to trimethoprim-sulfamethoxazole and 90.8％of MRSE strains were susceptible to rifampicin.No vancomycin-resistant strains were found.Enterococcus faecalis showed significantly lower resistance rates to most antimicrobial agents tested than Enterococcus faecium.A few vancomycin-resistant strains were identified in both E.faecalis and E.faecium.The prevalence of penicillin-susceptible Streptococcus pneumoniae was 94.2％in the isolates from children and 95.7％in the isolates from adults.The resistance rate to carbapenems was lower than 13.1％in most Enterobacterales species except for Klebsiella,21.7％-23.1％of which were resistant to carbapenems.Most Enterobacterales isolates were highly susceptible to tigecycline,colistin and polymyxin B,with resistance rates ranging from 0.1％to 13.3％.The prevalence of meropenem-resistant strains decreased from 23.5％in 2019 to 18.0％in 2022 in Pseudomonas aeruginosa,and decreased from 79.0％in 2019 to 72.5％in 2022 in Acinetobacter baumannii.Conclusions The resistance of clinical isolates to the commonly used antimicrobial agents is still increasing in tertiary hospitals.However,the prevalence of important carbapenem-resistant organisms such as carbapenem-resistant K.pneumoniae,P.aeruginosa,and A.baumannii showed a downward trend in recent years.This finding suggests that the strategy of combining antimicrobial resistance surveillance with multidisciplinary concerted action works well in curbing the spread of resistant bacteria.

Objective: To investigate the relationship between body mass index (BMI) and sexual development in Chinese children. Methods: A nationwide multicenter and population-based large cross-sectional study was conducted in 13 provinces, autonomous regions and municipalities of China from January 2017 to December 2018. Data on sex, age, height, weight were collected, BMI was calculated and sexual characteristics were analyzed. The subjects were divided into four groups based on age, including ages 3-<6 years, 6-<10 years, 10-<15 years and 15-<18 years. Multiple Logistic regression models were used for evaluating the associations of BMI with sexual development in children. Dichotomous Logistic regression was used to compare the differences in the distribution of early and non-early puberty among normal weight, overweight and obese groups. Curves were drawn to analyze the relationship between the percentage of early puberty and BMI distribution in girls and boys at different Tanner stages. Results: A total of 208 179 healthy children (96 471 girls and 111 708 boys) were enrolled in this study. The OR values of B2, B3 and B4+ in overweight girls were 1.72 (95%CI: 1.56-1.89), 3.19 (95%CI: 2.86-3.57), 7.14 (95%CI: 6.33-8.05) and in obese girls were 2.05 (95%CI: 1.88-2.24), 4.98 (95%CI: 4.49-5.53), 11.21 (95%CI: 9.98-12.59), respectively; while the OR values of G2, G3, G4+ in overweight boys were 1.27 (95%CI: 1.17-1.38), 1.52 (95%CI: 1.36-1.70), 1.88 (95%CI: 1.66-2.14) and in obese boys were 1.27 (95%CI: 1.17-1.37), 1.59 (95%CI: 1.43-1.78), and 1.93 (95%CI: 1.70-2.18) (compared with normal weight Tanner 1 group,all P<0.01). Analysis in different age groups found that OR values of obese girls at B2 stage and boys at G2 stage were 2.02 (95%CI: 1.06-3.86) and 2.32 (95%CI:1.05-5.12) in preschool children aged 3-<6 years, respectively (both P<0.05). And in the age group of 6-10 years, overweight girls had a 5.45-fold risk and obese girls had a 12.54-fold risk of B3 stage compared to girls with normal BMI. Compared with normal weight children, the risk of early puberty was 2.67 times higher in overweight girls, 3.63 times higher in obese girls, and 1.22 times higher in overweight boys, 1.35 times higher in obese boys (all P<0.01). Among the children at each Tanner stages, the percentage of early puberty increased with the increase of BMI, from 5.7% (80/1 397), 16.1% (48/299), 13.8% (27/195) to 25.7% (198/769), 65.1% (209/321), 65.4% (157/240) in girls aged 8-<9, 10-<11 and 11-<12 years, and 6.6% (34/513), 18.7% (51/273), 21.6% (57/264) to 13.3% (96/722), 46.4% (140/302), 47.5% (105/221) in boys aged 9-<10, 12-<13 and 13-<14 years, respectively. Conclusions: BMI is positively correlated with sexual development in both Chinese boys and girls, and the correlation is stronger in girls. Obesity is a risk factor for precocious puberty in preschool children aged 3-<6 years, and 6-<10 years of age is a high risk period for early development in obese girls.
Adolescent ; Body Mass Index ; Child ; Child, Preschool ; China/epidemiology* ; Cross-Sectional Studies ; Female ; Humans ; Male ; Obesity/epidemiology* ; Overweight/epidemiology* ; Puberty ; Puberty, Precocious ; Sexual Development

OBJECTIVE: To develop and test the health education knowledge assessment questionnaire for gout and to investigate the understanding degree of health education knowledge in patients with gout. METHODS: From June 2019 to June 2019, 150 cases of gout patients were enrolled.According to the literature review and the healthy education requirements of gout patients, the framework of education knowledge system was preliminarily formed.The pre-test questionnaire was obtained through two rounds of he Delphi technique.A survey of 150 patients with gout was carried out.The analysis and selection of the questionnaire were based on the coefficient of variation, the analysis of determination value, the correlation coefficient of the items and the total scores, and the exploratory factor analysis.In this study, we evaluated the reliability of internal consistency, semi-reliability.Validity test mainly included content validity and construct validity.In addition, a total of 150 patients with gout in our hospital and outpatient gout were selected to investigate the understanding degree of health education knowledge from June 2019 to December 2019. RESULTS: The significance of the first level index of the questionnaire was 3.83-5.00, the secondary index was 3.00-4.83, and the variation coefficient of each item was 0.31-1.23, and the critical ratio(CR) value of each item in this questionnaire was 3.168-8.333.The Pearson correlation coefficient of each item and the total score of this study was 0.319-0.544.After exploratory factor analysis, some topics were deleted in four dimensions, and there were 16 entries in the final questionnaire.Cronbach' s α coefficient of this questionnaire was 0.715, split-half reliability Spearman-Brown coefficient was 0.785, and retest reliability coefficient was 0.729. The correlation coefficient between each factor of this questionnaire and the total questionnaire was 0.300-0.701, and the correlation coefficient between each item of the questionnaire and each factor was 0.402-0.732, all P < 0.05. The results were statistically significant. By questionnaire investigation, the total score of questionnaire was (6.85±3.22), the score of disease-related knowledge was (2.03±1.24), the score of dietary guidance was (1.53± 1.06), the score of exercise guidance was (2.19±1.24), the score of medication guide was (1.24±1.22). CONCLUSION The Health Education Knowledge Assessment Questionnaire For Gout has a good reliability and validity for measuring related content, the compilation process is scientific and the content is comprehensive, which can be further applied in clinic.The understanding degree of health education knowledge is low in Chinese patients with gout, and knowledge of gout medicine is lacking especially.
Factor Analysis, Statistical ; Gout/diagnosis* ; Health Education ; Humans ; Psychometrics/methods* ; Reproducibility of Results ; Surveys and Questionnaires

Ischemic stroke causes brain inflammation and multi-organ injury, which is closely associated with the peroxisome proliferator-activated receptor-gamma (PPARγ) signaling pathway. Recent studies have indicated that ginsenoside Rb1 (GRb1) can protect the integrity of the blood-brain barrier after stroke. In the current study, a mouse model of middle cerebral artery occlusion/reperfusion (MCAO/R) was established to determine whether GRb1 can ameliorate brain/lung/intestinal barrier damage via the PPARγ signaling pathway. Staining (2,3,5-triphenyltetrazolium chloride, hematoxylin, and eosin) and Doppler ultrasonography were employed to detect pathological changes. Endothelial breakdown was investigated with the leakage of Evans Blue dye and the expression of TJs (tight junctions) and AJs (adherent junctions). Western blot and immunofluorescence were used to determine the levels of cell junction proteins, PPARγ and NF-κB. Results showed that GRb1 significantly mitigated multi-organ injury and increased the expression of cerebral microvascular, pulmonary vascular, and intestinal epithelial connexins. In brain, lung, and intestinal tissues, GRb1 activated PPARγ, decreased the levels of phospho-NF-κB p65, and inhibited the production of proinflammatory cytokines, thereby maintaining barrier permeability. However, co-treatment with GRb1 and the PPARγ antagonist GW9662 reversed the barrier-protective effect of GRb1. These findings indicated that GRb1 can improve stroke-induced brain/lung/intestinal barrier damagevia the PPARγ pathway.
Animals ; Brain ; Brain Ischemia ; Ginsenosides ; Infarction, Middle Cerebral Artery ; Lung ; Mice ; NF-kappa B ; Neuroprotective Agents ; PPAR gamma ; Reperfusion ; Reperfusion Injury ; Signal Transduction

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Child ; China/epidemiology* ; Cryptorchidism/genetics* ; Disorders of Sex Development/genetics* ; Female ; Genital Diseases, Male ; Genotype ; Humans ; Hypospadias/genetics* ; Male ; Membrane Proteins/genetics* ; Penis/abnormalities* ; Phenotype ; Retrospective Studies ; Steroid 21-Hydroxylase/genetics*

Objective:To investigate the feasibility of early treatment of congenital giant melanocytic nevus (CGMN).Methods:From October 2013 to December 2021, the clinical data of children with giant nevus treated with skin soft tissue expansion in the Plastic Surgery Department of Sun Yat-sen Memorial Hospital were analyzed retrospectively. A renal expander was implanted in the first stage, including single and repeated expansion. The giant nevus was removed and repaired in the second stage with an expanded skin flap. The occurrence of complications, such as wound infection, expander exposure, expander rupture, and flap congestion, were recorded. Children’s mental health problems and their parents’ satisfaction were also analyzed. The χ2 between children of different ages and the infection rate between children with an internal and external pot. Results:A total of 58 children, 24 males and 34 females, aged from 3 months to 3 years, with an average age of 1.45 years, were enrolled. A total of 190 expanders were implanted. The patients were followed for 5 to 106 months, averaging 42.43 months. In the first stage, 29 cases of wound infection, 41 cases of expander exposure, two cases of flap congestion, and 6 cases of expander rupture occurred. The flap transfers were not affected by these complications after appropriate treatment. The comparison of complication rates among 3 months~<1 year、1~<2 years、2~<3 years、3 years was 37.34%(31/83)、56.75% ((21/37) ), 33.33% (13/39) and 41.94%(13/31), respectively, No statistically significant difference ( χ2=5.21, P=0.157). The incidence of wound infection was 16.67% (6/36) and 14.94% (23/154), respectively, for the internal and external dilators. There was no significant difference in the location of the dilator pot and the incidence of wound infection ( χ2=0.07, P=0.795). The appearance of all children has been significantly improved. Thirty-nine children’s families are particularly satisfied, and 20 are generally satisfied with the treatment effect, and no mental health problems were found. Conclusions:Skin and soft tissue expansion is a reliable method for early treatment of congenital giant nevus.

Objective:To investigate the feasibility of early treatment of congenital giant melanocytic nevus (CGMN).Methods:From October 2013 to December 2021, the clinical data of children with giant nevus treated with skin soft tissue expansion in the Plastic Surgery Department of Sun Yat-sen Memorial Hospital were analyzed retrospectively. A renal expander was implanted in the first stage, including single and repeated expansion. The giant nevus was removed and repaired in the second stage with an expanded skin flap. The occurrence of complications, such as wound infection, expander exposure, expander rupture, and flap congestion, were recorded. Children’s mental health problems and their parents’ satisfaction were also analyzed. The χ2 between children of different ages and the infection rate between children with an internal and external pot. Results:A total of 58 children, 24 males and 34 females, aged from 3 months to 3 years, with an average age of 1.45 years, were enrolled. A total of 190 expanders were implanted. The patients were followed for 5 to 106 months, averaging 42.43 months. In the first stage, 29 cases of wound infection, 41 cases of expander exposure, two cases of flap congestion, and 6 cases of expander rupture occurred. The flap transfers were not affected by these complications after appropriate treatment. The comparison of complication rates among 3 months~<1 year、1~<2 years、2~<3 years、3 years was 37.34%(31/83)、56.75% ((21/37) ), 33.33% (13/39) and 41.94%(13/31), respectively, No statistically significant difference ( χ2=5.21, P=0.157). The incidence of wound infection was 16.67% (6/36) and 14.94% (23/154), respectively, for the internal and external dilators. There was no significant difference in the location of the dilator pot and the incidence of wound infection ( χ2=0.07, P=0.795). The appearance of all children has been significantly improved. Thirty-nine children’s families are particularly satisfied, and 20 are generally satisfied with the treatment effect, and no mental health problems were found. Conclusions:Skin and soft tissue expansion is a reliable method for early treatment of congenital giant nevus.

OBJECTIVE: To analyze the abnormal results and their causes of personal dose monitoring on medical radiation workers.METHODS: The medical radiation workers monitored from 2016 to 2019 in the personal dose monitoring room of Guangdong Province Hospital for Occupational Disease Prevention and Treatment were selected as the study subjects using convenient sampling method. The abnormal results and their causes of the medical radiation workers with personal dose equivalent ≥1.25 mSv(investigation level) in a single period were analyzed. RESULTS: The rate of abnormal results of personal dose monitoring was 0.26%(263/102 284). The false result rate was 0.19%(194/102 284), and that of the true result rate was 0.07%(69/102 284). A total of 73.38%(193/263) of medical radiation workers had abnormal results with an personal dose equivalent less than 5.00 mSv. Among different occupational groups, the abnormal results and false results in personal dose monitoring in interventional radiology group were the highest(all P<0.01). The abnormal result rate and false result rate were higher in the Pearl River Delta area than that in the non-Pearl River Delta area(0.27% vs 0.17%, 0.20% vs 0.12%, all P<0.05). The rate of false result of personal dose monitoring in the tertiary hospitals was lower than that in the non-tertiary hospitals(0.18% vs 0.30%, P<0.05). The main reason for the true results of personal dose monitoring was the increase of workload(43.48%), and the main reason for the false results was that the dosimeter was left in the workplace(57.73%). CONCLUSION: The rate of abnormal results of personal dose monitoring in the medical radiation workers is high. Radiological protection should be strengthened with emphasis on medical radiation workers in interventional radiology, Pearl River Delta area hospitals and non-tertiary hospitals.

Objective: The relationship between serum uric acid (SUA) levels and glycemic indices, including plasma glucose (FPG), 2-hour postload glucose (2h-PG), and glycated hemoglobin (HbA1c), remains inconclusive. We aimed to explore the associations between glycemic indices and SUA levels in the general Chinese population. Methods: The current study was a cross-sectional analysis using the first follow-up survey data from The China Cardiometabolic Disease and Cancer Cohort Study. A total of 105,922 community-dwelling adults aged ≥ 40 years underwent the oral glucose tolerance test and uric acid assessment. The nonlinear relationships between glycemic indices and SUA levels were explored using generalized additive models. Results: A total of 30,941 men and 62,361 women were eligible for the current analysis. Generalized additive models verified the inverted U-shaped association between glycemic indices and SUA levels, but with different inflection points in men and women. The thresholds for FPG, 2h-PG, and HbA1c for men and women were 6.5/8.0 mmol/L, 11.0/14.0 mmol/L, and 6.1/6.5, respectively (SUA levels increased with increasing glycemic indices before the inflection points and then eventually decreased with further increases in the glycemic indices). Conclusion An inverted U-shaped association was observed between major glycemic indices and uric acid levels in both sexes, while the inflection points were reached earlier in men than in women.
Aged ; Asian Continental Ancestry Group ; Blood Glucose/analysis* ; China/epidemiology* ; Cohort Studies ; Diabetes Mellitus/blood* ; Female ; Glucose Tolerance Test ; Glycated Hemoglobin A/analysis* ; Glycemic Index ; Humans ; Male ; Middle Aged ; Uric Acid/blood*