Objective To establish a central cutting two-dimensional liquid chromatography for the determination of lamotrigine in human plasma. Methods External standard method was used. The first dimensional chromatographic column: SNCB（T）-1A（silica gel, 4.6 mm×50 mm, 5 μm）, mobile phase A:VCV-1D mobile phase, flow rate: 0.4 ml/min; mobile phase B: water, flow rate: 1.0 ml/min; second dimensional chromatographic column: Symmetry C₁₈ （4.6 mm×250 mm, 5 μm）, mobile phase: acetonitrile-10 mmol/L ammonium acetate solution（V/V=25∶75）, flow rate: 1.0 ml/min；Intermediate column: SBX 4-MA（resin, 3.0 mm×10 mm, 5µm）. The UV detection wavelength：306 nm, the column temperature：45 ℃, and the injection volume：200 μl. Results The linear range of lamotrigine was 1.24-39.50 μg/ml, the lower limit of quantification was 1.24 μg/ml, the detection limit was 0.02 μg/ml, the intra-day precision RSD was less than 5%, the day-to-day precision RSD was less than 10%, the variation of intra-day accuracy ranged from 102.17% to 111.17%, and the daytime accuracy variation ranged from 99.80% to 107.31% the recovery RSD was less than 5%, and the variation range was 89.95% -96.16%. After 24 hours storage at room temperature, repeated freezing and thawing for 3 times and storage at −40 ℃ for 2 weeks, the ratio of the measured value/labeled value ranged from 87.01% to 115.88%. Conclusion In this study, a method with simple operation, good stability, high sensitivity and good reproducibility was established, which could be suitable for clinical monitoring of blood concentration of lamotrigine and provide reliable monitoring data support for clinical individualized medication guidance.

Objective:To explore the clinical phenotype and genetic characteristics of four patients with Phelan-McDermid syndrome (PMS) due to variants of SHANK3 gene. Methods:Four patients diagnosed with PMS at Guangzhou Women and Children′s Medical Center Liuzhou Hospital from January 2020 to January 2025 were selected as the study subjects. Clinical data of the patients were collected. Peripheral venous blood samples were collected from each patient for the extraction of genomic DNA, followed by whole-exome sequencing (WES) and validation by Sanger sequencing. Pathogenicity of candidate variants was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), and multiple bioinformatic tools were used to assess the pathogenic effects of the variants. The study was approved by the Ethics Committee of the Guangzhou Women′s and Children′s Medical Center Liuzhou Hospital (Ethics No. 2025-007).Results:All four patients had exhibited language delay and intellectual disability (IQ 35 ~ 65). Some also presented with autism spectrum disorder and schizophrenia, albeit with significant phenotypic heterogeneity. All patients were found to harbor deletions of 22q13.33 region, ranging from 55.46 kb to 112.64 kb, primarily involving the SHANK3 gene. Conclusion:PMS is typically caused by deletions or mutations of the SHANK3 gene. The clinical manifestations are diverse, with developmental delay and intellectual disability being the most common. Accurate diagnosis requires integration of genetic testing and standardized clinical assessment. Genetic screening for suspected patients and at-risk pregnant women is recommended to facilitate their genetic counseling.

Objective To investigate the quality and in vitro release behavior of the sirolimus self-microemulsion-mesoporous silicon sustained release tablets and provide a basis for further research and development of related preparations. Methods The hardness, brittleness and content uniformity of the sustained-release tablets were tested refer to Pharmacopoeia of the People’s Republic of China 2020. Different diameters （10, 11, 12 mm）, different hardness （50, 70, 90 N）, different speed （50, 75, 100 r/min）, different dissolution methods （pulp method, basket method） were investigated. The release conditions of the sustained-release tablets with different pH solution （distilled water solution and 0.4% SDS solution with pH of 1.2, 4.5 and 6.8, respectively） and the in vitro release conditions of the sustained-release tablets were observed. Results The hardness, brittleness and content uniformity of the self-made sustained-release tablets were qualified; different diameters and dissolution methods had no effect on the drug release behavior of the sustained-release tablets in vitro, while the different hardness, different rotational speed and the different pH release media had certain effects. Conclusion The sirolimus self-microemulsion-mesoporous silicon sustained release tablets had good sustained-release effect in vitro and was deserved to further study.

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of four patients with Phelan-McDermid syndrome (PMS) due to variants of SHANK3 gene. METHODS: Four patients diagnosed with PMS at Guangzhou Women and Children's Medical Center Liuzhou Hospital from January 2020 to January 2025 were selected as the study subjects. Clinical data of the patients were collected. Peripheral venous blood samples were collected from each patient for the extraction of genomic DNA, followed by whole-exome sequencing (WES) and validation by Sanger sequencing. Pathogenicity of candidate variants was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), and multiple bioinformatic tools were used to assess the pathogenic effects of the variants. The study was approved by the Ethics Committee of the Hospital (Ethics No. 2025-007). RESULTS: All four patients had exhibited language delay and intellectual disability (IQ 35 ~ 65). Some also presented with autism spectrum disorder and schizophrenia, albeit with significant phenotypic heterogeneity. All patients were found to harbor deletions of 22q13.33 region, ranging from 55.46 Kb to 112.64 Kb, primarily involving the SHANK3 gene. CONCLUSION PMS is typically caused by deletions or mutations of the SHANK3 gene. The clinical manifestations are diverse, with developmental delay and intellectual disability being the most common. Accurate diagnosis requires integration of genetic testing and standardized clinical assessment. Genetic screening for suspected patients and at-risk pregnant women is recommended to facilitate their genetic counseling.
Child ; Humans ; Chromosome Deletion ; Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 22/genetics* ; Exome Sequencing ; Nerve Tissue Proteins/genetics* ; Phenotype

Objective:To explore the clinical phenotype and genetic characteristics of four patients with Phelan-McDermid syndrome (PMS) due to variants of SHANK3 gene. Methods:Four patients diagnosed with PMS at Guangzhou Women and Children′s Medical Center Liuzhou Hospital from January 2020 to January 2025 were selected as the study subjects. Clinical data of the patients were collected. Peripheral venous blood samples were collected from each patient for the extraction of genomic DNA, followed by whole-exome sequencing (WES) and validation by Sanger sequencing. Pathogenicity of candidate variants was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), and multiple bioinformatic tools were used to assess the pathogenic effects of the variants. The study was approved by the Ethics Committee of the Guangzhou Women′s and Children′s Medical Center Liuzhou Hospital (Ethics No. 2025-007).Results:All four patients had exhibited language delay and intellectual disability (IQ 35 ~ 65). Some also presented with autism spectrum disorder and schizophrenia, albeit with significant phenotypic heterogeneity. All patients were found to harbor deletions of 22q13.33 region, ranging from 55.46 kb to 112.64 kb, primarily involving the SHANK3 gene. Conclusion:PMS is typically caused by deletions or mutations of the SHANK3 gene. The clinical manifestations are diverse, with developmental delay and intellectual disability being the most common. Accurate diagnosis requires integration of genetic testing and standardized clinical assessment. Genetic screening for suspected patients and at-risk pregnant women is recommended to facilitate their genetic counseling.

Objective To investigate the serum micro-ribonucleic acid-15a(miR-15a)and macrophage mi-gration inhibitory factor(MIF)levels and their relationship with adverse maternal and infant outcomes in pa-tients with gestational diabetes mellitus(GDM).Methods From January 2020 to December 2022,106 patients with GDM who underwent prenatal examination and gave birth in the Hengshui Fourth People's Hospital were selected as the experimental group.Another 106 healthy women who underwent pregnancy examination and delivered in a hospital during the same period were selected as the control group.Detection of serum miR-15a level by real-time fluorescent quantitative polymerase chain reaction and serum MIF levels were detected by enzyme-linked immunosorbent assay.Serum MIF and miR-15a levels were compared between the two groups,and the relationship between miR-15a and MIF levels and adverse maternal and infant outcomes in GDM patients was analyzed by multivariate Logistic regression.Results The serum levels of miR-15a and MIF in the experimental group were higher than those in the control group,the difference was statistically sig-nificant(P＜0.05).The age of patients with adverse maternal and infant outcomes in the experimental group was＞35 years old,the pre-pregnancy body mass index was＞24 kg/m2,the proportion of patients with ad-verse pregnancy history,poor blood glucose control and serum MIF and miR-15a levels were higher than those with good maternal and infant outcomes in the experimental group,and the differences were statistically sig-nificant(P＜0.05).Multivariate Logistic regression analysis showed that age＞35 years old,pre-pregnancy body mass index＞24 kg/m2,adverse pregnancy history,poor blood glucose control and serum miR-15a and MIF were all risk factors for adverse maternal and infant outcomes in the experimental group(P＜0.05).Conclusion Serum miR-15a and MIF levels are abnormally elevated in GDM patients,and serum miR-15a and MIF levels are closely related to adverse maternal and infant outcomes.

Objective: To investigate the awareness, sexual behavior characteristics and infection status of AIDS among male floating population in Anhui Province, so as to provide insights into formulating prevention and control measures for male floating population. Methods: Male floating population of three occupations including construction workers, enterprise workers, and business operators in Wuhu, Tongling, Hefei, and Fuyang cities were selected using stratified cluster random method from April to August 2021. Demographic information, knowledge of AIDS and high-risk behaviors were collected through questionnaires surveys. The results of HIV, syphilis and hepatitis C virus (HCV) antibody testing were collected through laboratory tests. Awareness rate of AIDS knowledge, sexual behavior characteristics, and positive rates of HIV, syphilis, and HCV among male floating population of different occupations were analyzed. Results: A total of 1 616 people were enrolled, including 1 016 construction workers (62.87%), 253 enterprise workers (15.66%) and 347 business operators (21.47%), and had a mean age of (40.63±12.32) years. The overall awareness rate of AIDS knowledge among male floating population was 89.54%, the awareness rates of business operators, construction workers, and enterprise workers were 98.33%, 88.29% and 82.61%, respectively, and the difference was statistically significant (P<0.05). The proportions of consistent condom use during sexual intercourse with a spouse or cohabitant, during commercial sexual encounters, and with casual partners in the past year were 7.15% (91/1 273), 64.00% (16/25) and 50.00% (8/16), respectively. The proportions of construction workers, enterprise workers, and business operators who used condoms every time they had sexual behavior with their spouses/cohabitants in the past year were 4.54%, 11.63%, and 15.60%, respectively, with statistically significant differences (P<0.05). One case of HIV, one case of syphilis, and three cases of HCV antibody were detected. Conclusion The overall awareness rate of AIDS knowledge among the male floating population in Anhui Province is relatively high, but unsafe sex behaviors exist, which may lead to the risk of HIV infection.

Objective: To understand the awareness and service utilization of HIV preexposure prophylaxis (PrEP) and postexposure prophylaxis (PEP) among the young students aged 15-24 in Hefei, so as to provide reference for the prevention and treatment of AIDS among young students in the future. Methods: From May to June 2022, a stratified random cluster sampling method was used to select two different types of universities(undergraduate and vocational colleges) in Hefei, and a crosssectional survey was conducted among the 916 young students at the selected schools. The Chisquare test was used for statistical analysis. Results: Among the surveyed young students, 88.4% had heterosexual orientation, and 12.4% had sexual behavior including 8.8% of homosexual sexual behavior and 91.2% of heterosexual sexual behavior. The rate of condom use was 70.0% in the last homosexual intercourse, and the rate of condom use was 83.7% in the last heterosexual intercourse. About 41.9% of young students heard of PrEP, and the proportions of young students who knew about PrEP, consulted PrEP and used PrEP were 43.0%, 15.9% and 9.4% respectively. About 38.3% of young students had heard of PEP, and the proportions of young students who knew about PEP, consulted PEP and used PEP were 18.2%, 15.4% and 6.0%. Conclusions The awareness rate and utilization rate of PrEP and PEP among young students in Hefei are relatively low. PrEP and PEP publicity should be combined with education of HIV knowledge, and enhance the awareness rate of the young students, in order to reduce the risk of AIDS infection among young students with highrisk behaviors.

Objective: To understand the attitudes and perceptions of traditional Chinese medicine (TCM) practitioners in Beijing TCM hospitals regarding the use of Ephedra sinica Stapf (E. sinica, Ma Huang). Methods: A two-stage cross-sectional study was conducted using a questionnaire survey of TCM practitioners in Beijing TCM hospitals between April 2023 and March 2024. The questionnaire included demographic information, the clinical background of TCM practitioners, and the clinical application of E. sinica. Logistic regression analysis was used to analyze the relevant influencing factors when using E. sinica. Results: Of the 465 questionnaires collected, 441 were valid. Among these, 84.81% (374/441) reported having used E. sinica in clinical practice at least once. The commonly used doses of E. sinica—excluding the pediatric department—were 10 g for high doses, 6 g for medium, and 3 g for low. The three most frequently used formulas for E. sinica included Maxing Shigan decoction, Mahuang decoction, and Xiao Qing Long decoction. The most common TCM patterns treated with a high dose of E. sinica were wind-cold exterior pattern, wind-cold invading the lung, and wind and water combat with meridians congealed by cold. The top three Western medical diagnoses when using E. sinica for treatment were common cold, pneumonia, and upper respiratory tract infections. Nearly half of the respondents reported experiencing adverse reactions from the oral administration of E. sinica, with the most common being palpitations, insomnia, and restlessness. Starting with a low dose and gradually increasing it as appropriate was identified as an effective approach. Conclusion This study investigated the attitudes and perceptions of TCM practitioners in Beijing TCM hospitals regarding the dose–efficacy–adverse reaction relationship of E. sinica, providing a reference for the safe and effective clinical use of E. sinica.

Objective:To report the long-term outcomes of Chinese rectal cancer patients after adopting a Watch and Wait (W&W) strategy following neoadjuvant therapy (NAT).Methods:This multicenter, cross-sectional study was based on real-world data. The study cohort comprised rectal cancer patients who had achieved complete or near complete clinical responses (cCRs, near-cCRs) after NAT and were thereafter managed by a W&W approach, as well as a few patients who had achieved good responses after NAT and had then undergone local excision for confirmation of pathological complete response. All participants had been followed up for ≥2 years. Patients with distant metastases at baseline or who opted for observation while living with the tumor were excluded. Data of eligible patients were retrospectively collected from the Chinese Wait-and-Watch Data Collaboration Group database. These included baseline characteristics, type of NAT, pre-treatment imaging results, evaluation of post-NAT efficacy, salvage measures, and treatment outcomes. We herein report the long-term outcomes of Chinese rectal cancer patients after NAT and W&W and the differences between the cCR and near-cCR groups.Results:Clinical data of 318 rectal cancer patients who had undergone W&W for over 2 years and been followed up were collected from eight medical centers (Peking University Cancer Hospital, Fudan University Shanghai Cancer Center, Sun Yat-sen University Cancer Center, Shanghai Changhai Hospital, Peking Union Medical College Hospital, Liaoning Cancer Hospital, the First Hospital of Jilin University, and Yunnan Cancer Hospital.) The participants comprised 221 men (69.4%) and 107 women (30.6%) of median age 60 (26-86) years. The median distance between tumor and anal verge was 3.4 (0-10.4) cm. Of these patients, 291 and 27 had achieved cCR or near-cCR, respectively, after NAT. The median duration of follow-up was 48.4 (10.2-110.3) months. The 5-year cumulative overall survival rate was 92.4% (95%CI: 86.8%-95.7%), 5-year cumulative disease-specific survival (CSS) rate 96.6% (95%CI: 92.2%-98.5%), 5-year cumulative organ-preserving disease-free survival rate 86.6% (95%CI: 81.0%-90.7%), and 5-year organ preservation rate 85.3% (95%CI: 80.3%-89.1%). The overall 5-year local recurrence and distant metastasis rates were 18.5% (95%CI: 14.9%-20.8%) and 8.2% (95%CI: 5.4%-12.5%), respectively. Most local recurrences (82.1%, 46/56) occurred within 2 years, and 91.0% (51/56) occurred within 3 years, the median time to recurrence being 11.7 (2.5-66.6) months. Most (91.1%, 51/56) local recurrences occurred within the intestinal lumen. Distant metastases developed in 23 patients; 60.9% (14/23) occurred within 2 years and 73.9% (17/23) within 3 years, the median time to distant metastasis being 21.9 (2.6-90.3) months. Common sites included lung (15/23, 65.2%), liver (6/23, 26.1%), and bone (7/23, 30.4%) The metastases involved single organs in 17 patients and multiple organs in six. There were no significant differences in overall, cumulative disease-specific, or organ-preserving disease-free survival or rate of metastases between the two groups (all P>0.05). The 5-year local recurrence rate was higher in the near-cCR than in the cCR group (41.6% vs. 16.4%, P<0.01), with a lower organ preservation rate (69.2% vs. 88.0%, P<0.001). The success rates of salvage after local recurrence and distant metastasis were 82.1% (46/56) and 13.0% (3/23), respectively. Conclusion:Rectal cancer patients who achieve cCR or near-cCR after NAT and undergo W&W have favorable oncological outcomes and a high rate of organ preservation. Local recurrence and distant metastasis during W&W follow certain patterns, with a relatively high salvage rate for local recurrence. Our findings highlight the importance of close follow-up and timely intervention during the W&W process.