Objective:To analyze the clinical and genetic characteristics of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus (GEFS+ ).Methods:Three GEFS+ probands and their pedigree members presented at the Children′s Hospital of Zhengzhou University from January 2020 to December 2021 were selected as the study subjects. Clinical data of the pedigrees were collected. Whole exome sequencing was carried out for the probands, and Sanger sequencing was used to verify the candidate variants.Results:Proband 1 was a 3-year-and-2-month-old male with febrile seizure plus. His father, two aunts, grandmother, aunt grandmother, uncle grandfather, and paternal great-grandmother also had onset of febrile seizures at 1 ~ 2 years of age with remission before 6 years old. Proband 2 was a 1-year-and-4-month-old male with complex febrile seizure. His mother, maternal uncle, and maternal grandmother also had febrile seizures before 5 ~ 6 years of age. Proband 3 was a 3-year-and-11-month-old male with febrile seizure plus. His father and grandfather also had febrile seizures plus with remission at 7 ~ 8 years of age. Genetic testing revealed that proband 1 had harbored a paternally derived heterozygous SCN1A: c. 1613T>C variant, proband 2 had harbored a maternally derived heterozygous SCN1A: c. 2804A>G variant, and proband 3 had harbored a paternally derived heterozygous SCN1A: c. 1271T>C variant. All of the three variants were predicted as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (PM1+ PM2_Supporting+ PP1+ PP3+ PP4). Conclusion:The c. 1613T>C, c. 2804A>G and c. 1271T>C variants probably underlay the pathogenesis of GEFS+ in these pedigrees.

Objective To investigate the accuracy of cone-beam CT(CBCT)by measuring tongue thickness(TT)in predicting difficult glottis exposure in patients undergoing maxillofacial surgery.Methods Ninety-seven patients undergoing elective maxillofacial surgery under general anesthesia were selected,45 males and 52 females,aged 18-67 years,ASA physical status Ⅰ or Ⅱ.The TT was measured by CBCT before operation.The inter-incisor distance(IID),BMI,thyromental distance(TMD),and modified Mal-lampati test(MMT)were also recorded.According to the Cormack-Lehane(CL)grade at the time of gener-al anesthesia induction,the patients were divided into two groups:the easy laryngoscope exposure group(group E,CL gradeⅠorⅡ,n = 86)and the difficult laryngoscope exposure group(group D,CL gradeⅢ or Ⅳ,n = 11).The relationship between IID,BMI,TMD,MMT,TT,and laryngoscopy exposure was analyzed,and the receiver operating characteristic(ROC)curve was used to analyze the relationship be-tween each index and difficult laryngoscopy exposure.Results Compared with group E,the BMI,MMT,and TT of group D were significantly increased(P＜0.05),while the TMD was significantly decreased(P＜0.05).The area under the ROC curve(AUC)of BMI,TMD,MMT,and TT to predict difficult glot-tis exposure was 0.690,0.714,0.726,and 0.797,the sensitivity was 36.4%,63.6%,63.6%,and 81.8%,and the specificity was 95.3%,69.8%,76.7%,and 68.6%,respectively.Using BMI,MMT,TMD,and TT as a model to predict difficult glottis exposure,the AUC was 0.913,the sensitivity was 90.9%and the specificity was 83.7%.Conclusion TT measured by CBCT is an independent impact factor for predicting difficult laryngoscope exposure.The comprehensive model incorporating BMI,TMD,MMT,and TT has a better predictive effect.

Objective To establish a finite element model of the hallux valgus foot and study the stress and displacement changes in the first and second rays of the hallux valgus under different tensile forces.Methods Foot CT images of a patient with hallux valgus were imported into Mimics to reconstruct a three-dimensional(3D)skeletal model of the foot.The 3-matic software was used to mesh the reconstructed model and generate the volume mesh.The optimized model was imported into ANSYS for finite element analysis.The relationship between the tensile forces and the stress/displacement of the first and second rays of the hallux valgus was verified by changing the size and direction of the tensile forces.Results Tensile forces of different magnitudes and directions were applied to the first proximal phalanx.When the force was less than 12 N,with an increase in tension,the displacement of the first phalange changed more significantly.For every 2 N increase in tension,the displacement increased by approximately 1 mm.When the force was greater than 12 N,with an increase in tension,the stress on the first phalange increased,whereas the displacement only changed slightly.In addition,when the magnitude of the force remained unchanged at 12 N and the direction of the force changed at intervals of 15°,the stress and stress distributions of the first and second rays changed with direction,and the displacement also changed accordingly.When the direction of the force was perpendicular to that of the second phalanx,the displacement of the first phalanx increased.Conclusions Finite element analysis technology can vividly and accurately analyze the stress and displacement changes of the first and second rays of hallux valgus under different tensile forces,and it lays a foundation for the design of hallux valgus orthoses.

Objective:To investigate the effects of compound Duzhong Jiangu Granules on joint function and gut microbiota in patients with Kashin-Beck disease.Methods:A single group pre- and post-experimental design was conducted, the patients with Kashin-Beck disease were selected as the subjects in Xunyi County, Xianyang City, Shaanxi Province; and treated with oral administration of compound Duzhong Jiangu Granules (12 g/bag, 1 bag/time, 3 times/day) for a period of 1 month. The improvement of joint function was evaluated using the joint dysfunction index scoring method before and after treatment. Morning stool samples of patients were collected and the changes in gut microbiota were analyzed before and after treatment using 16S rDNA sequencing technology.Results:A total of 87 patients with Kashin-Beck disease were included, including 44 males and 43 females; the age was (60.38 ± 7.12) years old, and the body mass index was (23.67 ± 3.59) kg/m 2. The comprehensive scores of joint dysfunction index for patients with Kashin-Beck disease before and after treatment were (7.27 ± 2.05) and (5.86 ± 2.01) points, respectively, and the difference was statistically significant ( t = 5.88, P < 0.001). The sequencing results of gut microbiota showed that there were statistically significant differences in the alpha diversity (chao1, observed species index) and beta diversity of gut microbiota in patients with Kashin-Beck disease before and after treatment ( Z = - 5.08, - 5.03, R = 0.09, P < 0.001). In the distribution of gut microbiota, Firmicutes was the dominant phylum, with relative abundances of 50.21% and 52.09% before and after treatment, respectively; the Bifidobacterium was the dominant bacterial genus, with relative abundances of 16.83% and 18.81% before and after treatment, respectively. At the genus level, a total of 17 gut microbiota genera were screened out, among which the relative abundances of Hafnia-Obesumbacterium, Gammaproteobacteria_unclassified, Acinetobacter, Pantoea, Leuconostoc, and Akkermanisia were significantly higher than before treatment ( Z = - 2.40, - 2.24, - 2.06, - 3.59, - 2.24, - 2.11, P < 0.05). The relative abundances of Dubosiella, Selenomonas, Anaeroplasma, Lachnospiraceae_ NK4A136_group, Rikenella, Prevotella, Megasphaera, Lactobacillus, Prevotella-9, Phascolarctobacterium, and Desulfovibrio were significantly lower than before treatment ( Z = - 9.38, - 2.61, - 2.18, - 8.43, - 2.45, - 2.46, - 2.49, - 7.29, - 2.29, - 2.55, - 2.08, P < 0.05). Conclusions:Compound Duzhong Jiangu Granules can effectively improve the joint function of patients with Kashin-Beck disease, and alter the diversity and richness of the gut microbiota community. It may reduce clinical symptoms in patients by regulating the structure of gut microbiota.

Objective:To evaluate the diagnostic efficacy and practicality of the Jaundice color card (JCard) as a screening tool for neonatal jaundice.Methods:Following the standards for reporting of diagnostic accuracy studies (STARD) statement, a multicenter prospective study was conducted in 9 hospitals in China from October 2019 to September 2021. A total of 845 newborns who were admitted to the hospital or outpatient department for liver function testing due to their own diseases. The inclusion criteria were a gestational age of ≥35 weeks, a birth weight of ≥2 000 g, and an age of ≤28 days. The neonate′s parents used the JCard to measure jaundice at the neonate′s cheek. Within 2 hours of the JCard measurement, transcutaneous bilirubin (TcB) was measured with a JH20-1B device and total serum bilirubin (TSB) was detected. The Pearson′s correlation analysis, Bland-Altman plots and the receiver operating characteristic (ROC) curve were used for statistic analysis.Results:Out of the 854 newborns, 445 were male and 409 were female; 46 were born at 35-36 weeks of gestational age and 808 were born at ≥37 weeks of gestational age. Additionally, 432 cases were aged 0-3 days, 236 cases were aged 4-7 days, and 186 cases were aged 8-28 days. The TSB level was (227.4±89.6) μmol/L, with a range of 23.7-717.0 μmol/L. The JCard level was (221.4±77.0) μmol/L and the TcB level was (252.5±76.0) μmol/L. Both the JCard and TcB values showed good correlation ( r=0.77 and 0.80, respectively) and agreements (96.0% (820/854) and 95.2% (813/854) of samples fell within the 95% limits of agreement, respectively) with TSB. The JCard value of 12 had a sensitivity of 0.93 and specificity of 0.75 for identifying a TSB ≥205.2?μmol/L, and a sensitivity of 1.00 and specificity of 0.35 for identifying a TSB ≥342.0?μmol/L. The TcB value of 205.2?μmol/L had a sensitivity of 0.97 and specificity of 0.60 for identifying TSB levels of 205.2 μmol/L, and a sensitivity of 1.00 and specificity of 0.26 for identifying TSB levels of 342.0 μmol/L. The areas under the ROC curve (AUC) of JCard for identifying TSB levels of 153.9, 205.2, 256.5, and 342.0 μmol/L were 0.96, 0.92, 0.83, and 0.83, respectively. The AUC of TcB were 0.94, 0.91, 0.86, and 0.87, respectively. There were both no significant differences between the AUC of JCard and TcB in identifying TSB levels of 153.9 and 205.2 μmol/L (both P>0.05). However, the AUC of JCard were both lower than those of TcB in identifying TSB levels of 256.5 and 342.0 μmol/L (both P<0.05). Conclusions:JCard can be used to classify different levels of bilirubin, but its diagnostic efficacy decreases with increasing bilirubin levels. When TSB level are ≤205.2 μmol/L, its diagnostic efficacy is equivalent to that of the JH20-1B. To prevent the misdiagnosis of severe jaundice, it is recommended that parents use a low JCard score, such as 12, to identify severe hyperbilirubinemia (TSB ≥342.0 μmol/L).

Background::Few evidence is available in the early prediction models of behavioral and psychological symptoms of dementia (BPSD) in Alzheimer’s disease (AD). This study aimed to develop and validate a novel genetic-clinical-radiological nomogram for evaluating BPSD in patients with AD and explore its underlying nutritional mechanism.Methods::This retrospective study included 165 patients with AD from the Chinese Imaging, Biomarkers, and Lifestyle (CIBL) cohort between June 1, 2021, and March 31, 2022. Data on demographics, neuropsychological assessments, single-nucleotide polymorphisms of AD risk genes, and regional brain volumes were collected. A multivariate logistic regression model identified BPSD-associated factors, for subsequently constructing a diagnostic nomogram. This nomogram was internally validated through 1000-bootstrap resampling and externally validated using a time-series split based on the CIBL cohort data between June 1, 2022, and February 1, 2023. Area under receiver operating characteristic (ROC) curves, calibration curves, and decision curve analysis (DCA) were used to assess the discrimination, calibration, and clinical applicability of the nomogram.Results::Factors independently associated with BPSD were: CETP rs1800775 (odds ratio [OR] = 4.137, 95% confidence interval [CI]: 1.276-13.415, P = 0.018), decreased Mini Nutritional Assessment score (OR = 0.187, 95% CI: 0.086-0.405, P <0.001), increased caregiver burden inventory score (OR = 8.993, 95% CI: 3.830-21.119, P <0.001), and decreased brain stem volume (OR = 0.006, 95% CI: 0.001-0.191, P = 0.004). These variables were incorporated into the nomogram. The area under the ROC curve was 0.925 (95% CI: 0.884-0.967, P <0.001) in the internal validation and 0.791 (95% CI: 0.686-0.895, P <0.001) in the external validation. The calibration plots showed favorable consistency between the prediction of nomogram and actual observations, and the DCA showed that the model was clinically useful in both validations. Conclusion::A novel nomogram was established and validated based on lipid metabolism-related genes, nutritional status, and brain stem volumes, which may allow patients with AD to benefit from early triage and more intensive monitoring of BPSD.Registration::Chictr.org.cn, ChiCTR2100049131.

【Objective】 To identify the specificity of alloantibody against high-frequency antigens in one case suffering with severe hemolytic diseases of the fetus and newborn (HDFN) and to screen for matching blood for transfusion. 【Methods】 The HDFN test and the antibody serological identification tests in the mother were performed. Several common high frequency antigens of maternal red blood cells (RBCs) were determined. IgG subtype coated on the RBCs of the newborn was determined. The phagocytic efficiency of the antibody was tested using the monocyte phagocytosis of sensitized erythrocyte by flow cytometry in vitro. Sanger sequencing of DI gene was performed in the mother, father and mother’s brother. The diluted maternal plasma was used for large scale screening of matching blood using IAT in Coomb’s gel card. 【Results】 Di(b-) phenotype was identified in the mother of the newborn and anti-Di^b (titer: 512) related HDN was detected in the newborn. IgG1 and IgG2 subtypes of anti-Di^b were detected and the rate of monocyte phagocytosis was 88.83%(74.7/84.09). The compatible blood was not detected in the maternal relatives. Subsequently, the newborn received the matching RBCs of two Di(b-) donors identified from 5 520 blood donors and discharged from the hospital. We screened out 17 Di(b-) donors out of 51 334 blood donors, indicating that the distribution frequency of Di(b-) among blood donors in Guangzhou was about 0.033% (17/51 334). 【Conclusion】 By serology and molecular biology methods, the newborn was identified with HDFN caused by anti-Di^b, and an effective large-scale screening method for Di (b -) rare blood types was established to find matching blood, which supported the establishment of rare Di(b-) blood database.

BACKGROUND:Scoliosis mainly refers to sequence abnormalities in the coronal,sagittal,and axial positions of the spine,with a Cobb angle of≥10°.The patients may experience symptoms such as unequal shoulder height and back asymmetry.Severe cases may affect the patient's cardiopulmonary function,thereby affecting their daily life.Conservative treatment can control the progression of scoliosis and avoid later surgery.Scoliosis orthosis is currently a commonly used and effective treatment measure in conservative treatment. OBJECTIVE:To summarize and analyze the current research status,hotspots,and trends of scoliosis orthoses both domestically and internationally,providing reference for related research. METHODS:Using bibliometrics and visual analysis as tools,and using a comparison between China and foreign countries as a method,this paper analyzes the literature on scoliosis orthosis journals in the past decade.Based on bibliometrics,the current status of research on scoliosis orthoses is determined.Citespace software is used to analyze key words and identify the current hotspots and future trends in scoliosis orthosis research. RESULTS AND CONCLUSION:(1)At present,the number of literature on scoliosis orthoses is still on a fluctuating upward trend.China and the United States are the main countries for research,with a literature share of over 40%.However,the average citation rate of foreign language literature by Chinese scholars is relatively low.(2)The basic fields of domestic research are mainly surgery and pediatrics,while orthotics and clinical neurology are mainly studied abroad.Among them,there is also a certain number of documents in domestic Chinese medicine,indicating that China is also engaged in the combination of Chinese and Western treatment of scoliosis.The National Natural Science Foundation of China has the highest proportion in the aspect of Chinese and foreign literature,reflecting the importance of the fund attaches to the research of scoliosis orthosis.(3)The authors with the highest number of publications are Qiu Yong and Negrini Stefano,and the most published institutions are the Spinal Surgery Department of Gulou Hospital affiliated to Nanjing University Medical College and UDICE-French Research University.Domestic and foreign authors and institutions have certain communications about this,but not closely,which requires relevant institutions and scholars to further explore and study.(4)From the research hotspots and future trends,the main treatment type is adolescent idiopathic scoliosis,while the production method of the short-column side bending orthosis is three-dimensinoal printing,and the main treatment index is convex progression.The ultimate purpose of treatment is to improve the quality of life of the patients.

Objective:To explore the focus of ethical governance in the field of artificial intelligence(Al)in medicine.Methods:By comprehensively reviewing relevant literature to compare the relevant laws and regulations of the field of AI in medicine between China and foreign countries,analyze the governance focus of potential ethical issues,and propose the corresponding governance strategies.Results:At present,the laws,regulations,and regulatory systems related to the field of AI in medicine in China need to be improved.The emphasis of ethical governance should focus on core issues such as protecting privacy rights,ensuring the transparency and fairness of algorithms,clarifying the demarcation and allocation of responsibilities,and clarifying public perceptions and attitudes.Conclusion:The government and all sectors of society should actively learn from international legislative experience,and build an omnidirectional and multi-level ethical governance system from the aspects of policy formulation,legal framework,scientific research,and technological research and development by strengthening top-level design,improving policies and regulations,attaching importance to public feedback,and strengthening interdisciplinary cooperation.

Objective:To compare the prognostic values of different classification by using transpulmonary pressure gradient (TPG), diastolic pressure gradient (DPG) and pulmonary vascular resistance (PVR) in patients with pulmonary hypertension due to left heart disease (PH-LHD), and investigated hemodynamic and clinical factors associated with mortality in patients with PH-LHD.Methods:This was a single-center prospective cohort study. In-hospital patients diagnosed with PH-LHD via right heart catheterization at the Department of Cardiology, the First Affiliated Hospital of Nanjing Medical University, from September 2013 to December 2019 were enrolled. Patients were divided according to TPG (cutoff value 12 mmHg; 1 mmHg=0.133 kPa), DPG (cutoff value 7 mmHg), PVR (cutoff value 3 Wood Units), and the combination of TPG and PVR. Baseline characteristic was recorded. All patients were followed up until the occurrence of endpoint event, defined as all-cause death that occurred during the follow-up period, or until April 18, 2022. Receiver operating characteristic curves were used to compare the predictive value of 3 classification methods for all-cause death in PH-LHD patients. The optimal cutoff values were calculated using Jorden index. Survival analysis was performed using Kaplan-Meier analysis, and log-rank test was used to compare the predictive efficacy of classification methods based on optimal cutoff values or guidance-recommended thresholds for the survival of PH-LHD patients. Variables showing statistical significance in the univariate analysis were incorporated into multivariate Cox regression model to analyze the independent risk factors for all-cause mortality.Results:A total of 243 patients were enrolled, aged (54.9±12.7) years old, including 169 (69.5%) males. During a median follow-up of 57 months, there were 101 (41.6%) deaths occurred. Grouping results were as follows: (1) TPG: TPG≤12 mmHg group 115 patients, TPG>12 mmHg group 128 patients; (2) DPG: DPG<7 mmHg group 193 patients, DPG≥7 mmHg group 50 patients; (3) PVR: PVR≤3 Wood Units group 108 patients, PVR>3 Wood Units group 135 patients; (4) TPG and PVR: TPG≤12 mmHg and PVR≤3 Wood Units group 89 patients, TPG>12 mmHg and PVR>3 Wood Units group 109 patients. PVR ( AUC=0. 698,95% CI:0.631-0.766) had better predictive value for all-cause mortality than TPG ( AUC=0.596, 95% CI: 0.523-0.669) and DPG ( AUC=0.526, 95% CI: 0.452-0.601) (all P<0.05). The optimal cutoff values for TPG, DPG, and PVR were13.9 mmHg, 2.8 mmHg, and 3.8 Wood Units, respectively. Kaplan-Meier analysis based on the optimal cutoff values or guidance-recommended thresholds showed that PVR and TPG were the predictors of survival ( P<0.05), while DPG did not showed significance ( P>0.05). Multivariate Cox regression analysis showed that age, PVR and log 2N-terminal pro-B-type natriuretic peptide were independent risk factors for all-cause mortality in PH-LHD patients (all P<0.05). Conclusion:Classification according to PVR was most valuable in predicting all-cause death in PH-LHD patients, while TPG showed moderate predictive ability and DPG had no predictive value.