The rapid advancements in artificial intelligence(AI)and computational sciences,particularly through the introduction of artificial intelligence drug design(AIDD)and computer-aided drug design(CADD)technologies,have revolutionized pathways in drug development.These include techniques such as natural language processing,image recognition,deep learning,and machine learning.By employing advanced algorithms and data processing techniques,these technologies have significantly enhanced the efficiency and success rate of R&D processes.In drug discovery,AI technologies have accelerated the identification of drug targets,screening of candidate drugs,pharmacological assessments,and quality control,effectively reducing R&D risks and costs.This article delves into the application of AIDD and CADD in drug development,analyzing their roles in enhancing the success rates and efficiencies of drug design,exploring their future trends,and addressing the potential challenges.

Objective:To examines the social health status and influencing factors affecting the elderly population in urban communities of Beijing, based on the "the Standard for Healthy Chinese Older Adults(2022)" .Methods:Using the stratified sampling method, a total of 159 elderly individuals aged 60 and above from the Lanyuan community in the Malianwa street jurisdiction of Haidian district, Beijing, were selected as research subjects.The average age of the participants was(70.7±7.9)years, comprising 74 males and 85 females.Household face-to-face interviews were conducted, utilizing self-compiled questionnaires to perform a comprehensive assessment and analysis of the social health status of the elderly.Results:In the study involving community-based elderly participants, 32.1%(51 cases)were classified as healthy.The analysis revealed statistically significant differences in the social health status among various age groups of the elderly( χ2=11.802, P=0.019), with a notable downward trend in social health status as age increases( χ2=9.626, P=0.002).Furthermore, the results of multivariate Logistic regression analysis indicated that educational level( OR=2.119, 95% CI: 1.044-4.031, P=0.038)and chronic disease status( OR=5.007, 95% CI: 1.083-23.140, P=0.039)are significant influencing factors on the social health status of older adults. Conclusions:The social health status of the elderly in urban communities in Beijing is generally low and deteriorates progressively with age.Both educational attainment and chronic disease prevalence significantly influence the social health of this demographic.For elderly individuals with lower educational levels and poor chronic disease management, it is essential to conduct social health assessments and implement targeted intervention strategies to enhance their overall social health.

Objective:To evaluate the efficacy and safety of micropulse transscleral cyclophotocoagulation (MP-TSCPC) for refractory glaucoma.Methods:A prospective multicenter observational case series study was conducted.A total of 63 refractory glaucoma patients (67 eyes) who underwent MP-TSCPC treatment were enrolled at Zhongshan Ophthalmic Center, Sun Yat-sen University, Chengdu First People's Hospital (Chengdu Integrated TCM& Western Medicine Hospital), and Changsha Aier Eye Hospital from August 2022 to April 2023.Among these cases, there were 40 eyes (59.7%) with unreduced intraocular pressure (IOP) after glaucoma surgery, 4 eyes (6.0%) with secondary glaucoma after vitrectomy, 2 eyes (3.0%) with secondary glaucoma after keratoplasty, 8 eyes (11.9%) with neovascular glaucoma, 3 eyes (4.5%) with secondary glaucoma due to iridocorneal endothelial syndrome, 6 eyes (9.0%) with primary open-angle glaucoma and 4 eyes (6.0%) with primary angle-closure glaucoma.Best corrected visual acuity (BCVA) was measured using the ETDRS chart and the IOP was measured using the Goldmann applanation tonometry before and 6 months after the surgery.The usage of anti-glaucoma medications before and after surgery and postoperative complications were recorded.Surgical success rate was calculated and surgical success was defined as an IOP reduction of more than 20% from baseline or a reduction in the number of ocular hypotensive medications with no change in IOP.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Zhongshan Ophthalmic Center, Sun Yat-sen University (No.2022KYPJ225).Written informed consent was obtained from each subject.Results:There was a statistically significant overall difference in IOP at different time points before and after surgery ( F=60.10, P<0.001), and the IOP at different time points after surgery was significantly lower than that before surgery, with statistically significant differences (all at P<0.001).IOP reduction at 6 months after surgery was (43.7±20.7)%.The number of anti-glaucoma medications used postoperatively was 2(0, 3) types, which was significantly less than the 3(2, 3) types used preoperatively ( Z=-2.70, P=0.007).The 6-month postoperative BCVA (LogMAR) was 1.40(0.52, 2.70), which showed no significant change compared to the preoperative 1.40(0.70, 2.70) ( Z=-0.10, P=0.952).The surgical success rate was 83.6%(56/67) at 6 months postoperatively.Postoperative complications included mydriasis (11/67), conjunctival hemorrhage (11/67), mild anterior chamber inflammation (1/67), mild ciliary body detachment (3/67), local choroidal detachment (1/67), and cystoid macular edema (1/67), all of which were reversible after treatment. Conclusions:MP-TSCPC appears to be a safe and effective treatment option for refractory glaucoma.

Objective:To evaluate and analyze the health status of the elderly from physical health, mental health and social health, so as to understand the health status and health service needs of rural elderly.Methods:A total of 263 elderly people aged 60 years and over(mean aged 70.9±7.9 years, 113 males and 150 females, 125 aged 60-69 years, 98 aged 70-79 years and 40 aged 80 years and over)in Nanwangkong Village, Shaozhuang Town, Qingzhou City, Weifang City, Shandong Province were selected by cluster sampling method.The physical, mental, social and overall health status of the elderly were comprehensively evaluated and analyzed by self-designed questionnaire.Results:The overall health rate was 30%(79 cases), and the physical health, mental health and social health rates were 73.8%(194 cases), 84.0%(221 cases)and 34.6%(91 cases), respectively, in rural elderly in this area.The physical health was better in males than in females in 80~ years old groups( χ2=5.736, P<0.05). The overall health was better in males than in females in the total age group and the 60~69 years old groups( χ2=7.468 and 11.116, both P<0.01). The proportions of unhealthy, basic healthy and healthy people in the overall and the dimensions of physical health, mental health and social health had significant differences in the 60~69, 70~79 and 80~ years old groups( χ2=40.590, 29.342, 18.503 and 27.615, all P<0.01), and the Chi-square test for trend showed that there was a statistically significant downward trend of overall health grade distribution with age( χ2=21.994, 12.831, 16.570 and 22.595, both P<0.01). Conclusions:In this study, 30.0% of the rural elderly were considered healthy, 48.3% were basically healthy, and 21.7% were unhealthy.The health status of the elderly gradually deteriorates with age.The government should strengthen the multidimensional health assessment of the rural elderly and provide the comprehensive health guidance services and targeted interventions for the elderly in terms of disease control, psychological counseling and social participation.

Objective:To evaluate and analyze the health status of elderly people from the physical, psychological and social aspects using the Health Criteria for Older Adults in China(2022), and to understand the impact of social demographic characteristics on the overall health status of the elderly.Methods:159 elderly people aged 60 years and over in the Lanyuan community of Malianwa Subdistrict, Haidian District, Beijing were selected by the stratified sampling method, with a mean age of(70.7±7.9)years, including 74 men and 85 women.The physical, psychological, social and overall health status of the elderly were comprehensively evaluated and analyzed from data collected through a self-designed questionnaire with face-to-face interviews at respondents' homes.Results:The percentage of participants in this community who were considered overall healthy was 30.2%(n=48). The proportions of those meeting the criteria for physical, mental and social health were 79.2%(n=126), 90.6%(n=144)and 32.1%(n=51), respectively.For participants of 3 age groups(60-69, n=89; 70-79, n=44; ≥80, n=26), differences in percentages of people who were considered not healthy, largely healthy and healthy, measured using the overall, physical, mental and social health criteria, were statistically significant( χ2=24.683, 57.096, 12.801, 11.802, all P<0.05), and results of the χ2test for trend showed that the frequency distribution of people with overall, physical, mental and social health decreased with age( χ2=16.878, 31.600, 9.626, 9.626, all P<0.05). Multivariate Logistic regression analysis showed that education level( OR=2.142, 95% CI: 1.053-4.538, P=0.035)was an influencing factor for overall health status of the elderly. Conclusions:The overall health status of community-dwelling elderly people in Beijing is relatively poor and deteriorates with age.Education level is a factor affecting their health status.Health assessment for the elderly should be strongly advocated, and targeted health education should be provided for the elderly in disease prevention and mental health care.

Objective:To explore the characteristics of blood amino acid and acylcarnitine profiles in children with unexplained generalized developmental delay (GDD)/intellectual disability (ID), and provide useful exploration for their early clinical identification.Methods:A total of 1 087 children with unexplained GDD/ID and 100 children with normal development who visited the Department of Pediatrics at Xiangya Hospital, Central South University from October 2015 to January 2021 were included as the study subjects. High performance liquid chromatography tandem mass spectrometry was used to detect 107 amino acids, carnitine, and base carnitine in dry blood filter paper. Unsupervised principal component analysis (PCA) was used to observe differences in metabolic profiles among different groups. Orthogonal partial least squares discriminant analysis (OLPS-DA) was used to distinguish inter group differences between different groups. Candidate differential metabolites were screened using VIP>1.0 and P<0.05 as criteria. Results:The GDD group screened 28 differential metabolites of blood amino acids and acylcarnitine, while the ID group screened 27 differential metabolites of blood amino acids and acylcarnitine, mainly involving pathways such as arginine biosynthesis, histone metabolism, arginine and proline metabolism.Conclusions:Differential metabolites such as glutamine in whole blood are of great significance for early identification of GDD/ID.

More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and NEXMIF is a pathogenic gene for XLID. In addition to intellectual disability, patients with NEXMIF gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by NEXMIF gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020. Patient 1, a 7 years and 8 months old girl, visited our department because of the delayed psychomotor development. Physical examination revealed strabismus (right eye), hyperactivity, and loss of concentration. Intelligence test showed a developmental quotient of 43.6. Electroencephalogram showed abnormal discharge, and cranial imaging appeared normal. Whole exome sequencing revealed a de novo heterozygous mutation, c.2189delC (p.S730Lfs*17) in the NEXMIF gene (NM_001008537). During the follow-up period, the patient developed epileptic seizures, mainly manifested as generalized and absent seizures. She took the medicine of levetiracetam and lamotrigine, and the seizures were under control. Patient 2, a 6-months old boy, visited our department due to developmental regression and seizures. He showed poor reactions to light and sound, and was not able to raise head without aid. Hypotonia was also noticed. The electroencephalogram showed intermittent hyperarrhythmia, and spasms were monitored. He was given topiramate and adrenocorticotrophic hormone (ACTH). Whole exome sequencing detected a de novo c.592C>T (Q198X) mutation in NEXMIF gene. During the follow-up period, the seizures were reduced with vigabatrin. He had no obvious progress in the psychomotor development, and presented strabismus. There were 91 cases reported abroad, 1 case reported in China, and 2 patients were included in this study. A total of 85 variants in NEXMIF gene were found, involving 83 variants reported in PubMed and HGMD, and the 2 new variants presented in our patients. The patients with variants in NEXMIF gene all had mild to severe intellectual disability. Behavioral abnormalities, epilepsy, hypotonia, and other neurological symptoms are frequently presented. The phenotype of male partially overlaps with that of female. Male patients often have more severe intellectual disability, impaired language, and autistic features, while female patients often have refractory epilepsy. Most of the variants reported so far were loss-of-function resulted in the reduced protein expression of NEXMIF. The degree of NEXMIF loss appears to correlate with the severity of the phenotype.
Child ; Epilepsy/genetics* ; Female ; Humans ; Intellectual Disability/genetics* ; Male ; Muscle Hypotonia/complications* ; Mutation ; Phenotype ; Seizures/genetics* ; Strabismus/complications*

Myasthenia gravis (MG) is an autoimmune disease with neuromuscular junction (NMJ) transmission disorder mediated by various antibodies, dependent on cellular immunity, and involved in complement and cytokines. MG is one of the common diseases in pediatric neurology, which is different from adult MG in diagnosis and treatment. However, there is still a lack of accurate and efficient diagnosis and treatment plan for pediatric MG. In recent years, with the development of pathogenesis, targeted diagnosis and treatment of NMJ transmission disorders caused by immune network disorders in immunopathology and pathogenic antibodies is the current main research direction. This article reviews the progress of auxiliary examination and treatment of MG in children.

Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.
Abnormalities, Multiple ; Child ; Ectodermal Dysplasia/genetics* ; Facies ; Failure to Thrive ; Heart Defects, Congenital/genetics* ; Humans ; Mutation ; Proto-Oncogene Proteins B-raf/genetics*

Objective:To analyze the process of Chinese expert consensus on the core information on prevention of sarcopenia in the elderly(2021)in China, so as to realize the early diagnosis and treatment of sarcopenia and to improve the quality of life in the elderly.Methods:The index system framework was established by literature review and expert questionnaire discussion, and Delphi expert consultation method was adopted to construct the index system.Results:A total of 109 experts(128 person-times)in Geriatrics from various fields participated in Delphi expert consultation.Positive coefficient for four rounds of expert consultation were 88.9%, 100.0%, 100.0% and 100.0% respectively, with expert authority factors being concentrated on 0.78~0.90.Through 4 rounds of Delphi expert surveys, the core information index system for sarcopenia prevention in the elderly has been definitive: Chinese Expert Consensus(2021)consists of nine indicators including "enhancing public scientific awareness of myosis, and so on."Conclusions:The core information index system for sarcopenia prevention in the elderly has high levels of overall convergence, comprehensive coverage, strong authority, stability, comprehensiveness and popularity.