The construction of a training system for visiting physicians in the department of rare diseases in China is an important measure to improve the overall diagnosis and treatment capacity for rare diseases and address the critical challenge of insufficient knowledge and skills among clinicians in practice. This article systematically describes the visiting physician training system established by the Department of Rare Diseases at Peking Union Medical College Hospital. It summarizes the training objectives and positioning, design logic, and learning modules of the system, aiming to provide a reference for the construction of the specialized talent team for rare diseases in China.

To investigate the clinical efficacy of neoadjuvant imatinib in the treatment of rectal gastrointestinal stromal tumor (GIST).

This case report presents a 16-year-old male patient with deficiency of adenosine deaminase 2(DADA2). The patient had a history of Raynaud′s phenomenon with digital ulcers since childhood. As the disease progressed, the patient developed retinal vasculitis, intracranial hemorrhage, skin necrosis, severe malnutrition, refractory hypertension, and gastrointestinal bleeding. Genetic testing revealed compound heterozygous mutations in the ADA2 gene (paternal c.1072G > A pathogenic mutation + maternal c.1065C > A variant of unknown clinical significance). ADA2 enzyme activity was significantly reduced (0.1 U/L). A multidisciplinary treatment team developed an individualized plan to address key issues, including nutritional support, blood pressure control, rehabilitation, pain management, and balancing anticoagulation/bleeding risks. After systematic intervention, the patient′s condition showed partial improvement. This case reveals clinical challenges such as anticoagulation decisions and nutritional support of DADA2. It also emphasizes the importance of early molecular diagnosis, tumor necrosis factor-α inhibitor targeted therapy, and multidisciplinary collaboration in management, underlining the core value of precision medicine in rare disease management.

Apical microsurgery is accurate and minimally invasive, produces few complications, and has a success rate of more than 90%. However, due to the lack of awareness and understanding of apical microsurgery by dental general practitioners and even endodontists, many clinical problems remain to be overcome. The consensus has gathered well-known domestic experts to hold a series of special discussions and reached the consensus. This document specifies the indications, contraindications, preoperative preparations, operational procedures, complication prevention measures, and efficacy evaluation of apical microsurgery and is applicable to dentists who perform apical microsurgery after systematic training.
Microsurgery/standards* ; Humans ; Apicoectomy ; Contraindications, Procedure ; Tooth Apex/diagnostic imaging* ; Postoperative Complications/prevention & control* ; Consensus ; Treatment Outcome

Instrument separation is a critical complication during root canal therapy, impacting treatment success and long-term tooth preservation. The etiology of instrument separation is multifactorial, involving the intricate anatomy of the root canal system, instrument-related factors, and instrumentation techniques. Instrument separation can hinder thorough cleaning, shaping, and obturation of the root canal, posing challenges to successful treatment outcomes. Although retrieval of separated instrument is often feasible, it carries risks including perforation, excessive removal of tooth structure and root fractures. Effective management of separated instruments requires a comprehensive understanding of the contributing factors, meticulous preoperative assessment, and precise evaluation of the retrieval difficulty. The application of appropriate retrieval techniques is essential to minimize complications and optimize clinical outcomes. The current manuscript provides a framework for understanding the causes, risk factors, and clinical management principles of instrument separation. By integrating effective strategies, endodontists can enhance decision-making, improve endodontic treatment success and ensure the preservation of natural dentition.
Humans ; Root Canal Therapy/adverse effects* ; Consensus ; Root Canal Preparation/adverse effects*

Objective:To compare the clinical outcomes of APTT-HTO and Biplanar-high tibial osteotomy (Biplanar-HTO) in treating medial compartment knee osteoarthritis.Methods:A non-randomized controlled trial was conducted. Twenty-eight patients with medial compartment knee osteoarthritis who underwent HTO at the Affiliated Hospital of Guizhou Medical University from August 2021 to January 2022 were enrolled. Based on the patients' surgical preference, they were assigned to either the APTT-HTO group ( n=15) or the Biplanar-HTO group ( n=13), followed up for 12 months postoperatively. Postoperative pain Visual Analog Scale (VAS) scores, Knee Society Score (KSS), changes in patellar height (Caton-Deschamps Index, CDI), and posterior tibial slope (PTS) were compared between the two groups. Results:The APTT-HTO group demonstrated a significantly shorter operative time (64.13±4.85 min) compared to the Biplanar-HTO group (81.54±6.09 min) ( P<0.05). No significant differences were observed in intraoperative correction (APTT-HTO: 12.19°±4.85°; Biplanar-HTO: 11.23°±3.02°) or postoperative drainage volume (APTT-HTO: 47.00±13.79 ml; Biplanar-HTO: 47.00±11.17 ml) ( P>0.05). At 12-month follow-up (APTT-HTO: 13.93±2.05 months; Biplanar-HTO: 14.08±2.14 months; no dropouts), the APTT-HTO group showed no significant changes in PTS (9.32°±2.04° vs. preoperative 8.82°±1.89°) or CDI (0.95±0.11 vs. 0.98±0.11) ( P>0.05), while the Biplanar-HTO group exhibited increased PTS (13.27°±1.99° vs. 8.86°±1.99°) and decreased CDI (0.64±0.10 vs. 0.97±0.16) ( P<0.05). The differences in PTS and CDI between the APTT HTO group and the Biplanar HTO group at 12 months after surgery were statistically significant ( P<0.05). Both groups achieved significant clinical improvements: in APTT-HTO, VAS decreased (preopreation 4.80±1.01 to postopreation 1.06±0.88), KSS knee scores increased (47.67±12.03 to 87.93±4.38), and KSS function scores improved (48.00±4.93 to 67.00±5.91); in Biplanar-HTO, VAS reduced (5.08±1.12 to 1.85±1.14), KSS knee scores rose (46.85±11.48 to 85.85±5.11), and KSS function scores enhanced (46.92±5.60 to 66.92±5.22) ( P<0.05 for all). Complications included soft tissue irritation (2 cases per group), with Biplanar-HTO additionally reporting deep vein thrombosis (1 case), hinge fracture (1 case), and patella baja (3 cases). Conclusions:Both APTT-HTO and Biplanar-HTO effectively treat medial compartment knee osteoarthritis. However, APTT-HTO outperforms Biplanar-HTO in preventing postoperative patella infera and minimizing alterations in PTS.

Objective:To understand the etiological surveillance and drug resistance characteristics of Legionella pneumophila (LP) from the aqueous environment of public places in Shanghai, from 2011 to 2020, and provide evidence for surveillance of the disease. Methods:Environmental water samples were systematically collected from public venues in urban and suburban districts of Shanghai for LP surveillance. All the identified LP isolates underwent a series of testings including serotyping, pulsed field gel electrophoresis (PFGE), sequence-based typing, and antimicrobial susceptibility testing. χ2 test or Cochran-Armitage trend tests were used for statistical analysis and for temporal resistance patterns. Results:Among 6 263 water samples, the LP-positive rate was 20.93% (1 311/6 263). The positivity rate decreased from 24.98% (287/1 149) in 2011-2012 to 20.02% (1 024/5 114) in 2013-2020 ( χ2=13.92, P<0.001), with the highest monthly positivity observed from June to August (23.79%, 745/3 132). A total of 1 365 LP strains were isolated, of which 912 were further characterized, including 10 serotypes, 149 PFGE patterns, and 33 sequence types (ST). The predominant serotype was Lp1 (86.84%, 792/912), and the dominant ST was ST752 (29.50%, 269/912). ST clustering revealed two major clonal groups CG1 and CG2, accounting for 91.12% (831/912) of the isolates. The 190 LPs involved in the drug sensitivity test showed three resistance profiles: azithromycin resistance (31.05%, 59/190), ciprofloxacin resistance (0.53%, 1/190) and azithromycin+ciprofloxacin resistance (0.53%, 1/190). Azithromycin-resistant strains were predominantly ST1 (64.41%, 38/59). The antimicrobial resistance rate showed a significant decline, from 48.65% (18/37) in 2011-2012 to 28.10% (43/153) in 2013-2020 ( χ2=9.38, P=0.002). Conclusions:Compared to from 2011 to 2012, both the positivity rate and antimicrobial resistance prevalence of LP in public aqueous environments of Shanghai exhibited an overall decline from 2013 to 2020. The predominant types of LP were serotype Lp1 and sequence type ST752, with notable high-level resistance to azithromycin. Measures as enhancing the enforcement of water safety regulations and prioritizing surveillance of azithromycin resistance in LP were recommended to mitigate public health risks.

Objective:To discuss the differences in depression symptoms between genders and between only-children and non-only-children among adolescents through symptom network analysis of adolescent depression.Methods:A total of 650 adolescents were randomly selected from Chaoyang District,Changchun City,Jilin Province,and they were as the study samples.The Patient Health Questionnaire-9(PHQ-9)was used to assess depression symptoms in the adolescents;network analysis was performed on the survey results to identify the core symptoms of adolescent depression and to compare gender differences and differences between only-children and non-only-children in depression symptoms.Results:The core symptoms of the adolescent depression were depressed mood[Closeness(Clo)=1.700 5,Strength(Str)=1.722 8]and lack of energy[Betweenness(Bet)=1.875 1].No significant differences in core symptoms were observed between males and females,but significant differences were found between only-children and non-only-children.Depression manifestations in the only-children also included psychomotor agitation or retardation.In the depression symptom network of the adolescents,the strongest edge connection was between anhedonia and depressed mood[Edge strength(Edge strength)=0.322 5],and significant differences were observed between genders and between only-children and non-only-children.The symptom network in male adolescents was consistent with the overall pattern,whereas in female adolescents,the strongest connection was the biggest between psychomotor agitation or retardation and suicidal ideation or self-harm(Edge strength=0.320 5).The symptom network in only-children was consistent with the overall pattern,whereas in non-only-children,the strongest connection was between depressed mood and feelings of worthlessness(Edge strength=0.287 4).Conclusion:The core symptoms of the adolescent depression exhibit differences between only-children and non-only-children,and the edge strengths in the symptom network show variations by gender and between only-children and non-only-children.

Objective To evaluate the association of different obesity phenotypes and their components with the risk of cognitive impairment in older Chinese adults,and to assess the association between obesity and cognitive impairment in different cognition-related genetic backgrounds.Methods A cross-sectional study based on the West China Health and Aging Cohort was conducted.Logistic regression was applied to estimate the association of obesity phenotypes and components with cognitive impairment in older Chinese adults stratified by APOE gene and polygenic risk scores.Results A total of 7 316 participants were enrolled,of whom 1 820 had cognitive impairment.Weight gains were associated with a reduced risk of cognitive impairment(odds ratio[OR]=0.96,95%CI,0.95-0.97).Being overweight with a normal waist-to-hip ratio was a protective factor for cognition(OR=0.74,95%CI,0.61-0.90),whereas the coexistence of elevated waist-to-hip ratio and overweight did not increase the risk of cognitive impairment.Sarcopenia was associated with an elevated risk of cognitive impairment.This association was found in both overweight(OR=2.03,95%CI,1.71-2.41)and non-overweight older adults(OR=1.86,95%CI,1.58-2.20),and was significant across all polygenic risk score strata.Conclusion Increasing body mass may serve as a key protective factor against cognitive decline in older adults.Having sarcopenia and obesity is associated with an elevated risk of cognitive impairment,independent of genetic susceptibility.

ObjectiveTo characterize the changes of metabolites of Blumea balsamifera in the process of sweating by non-targeted metabolomics， and to investigate the influence of sweating processing on the constituents of B. balsamifera. MethodsUltra performance liquid chromatography-quadrupole/electrostatic field orbitrap high resolution mass spectrometry（UPLC-Q-Exactive Orbitrap-MS） metabolomics was used to identify the metabolites in no sweating group（F1）， sweating 2 d group（F2） and sweating 4 d group（F3）， the differences of metabolites between the groups were compared by principal component analysis（PCA） and orthogonal partial least squares-discriminant analysis（OPLS-DA）， and differential metabolites were screened according to the variable importance in the projection（VIP） value>1 and P<0.05， and the pathway enrichment of the differential metabolites was analyzed by Kyoto Encyclopedia of Genes and Genomes（KEGG）. ResultsThe results of PCA and OPLS-DA showed a clear distinction between the three groups of samples， indicating significant differences in the compositions of the three groups of samples. A total of 433 differential metabolites were screened between the F1 and F2， with 154 up-regulated and 279 down-regulated， the significant up-regulated metabolites were tangeritin， 5-O-demethylnobiletin and so on， while the metabolites with significant down-regulation included alternariol， fortunellin， etc. A total of 379 differential metabolites were screened between the F2 and F3， with 150 up-regulated and 229 down-regulated， the significant up-regulated metabolites were isoimperatorin， helianyl octanoate and so on， and the significant down-regulated metabolites were hovenoside I， goyasaponin Ⅲ， etc. KEGG pathway enrichment analysis showed that tyrosine metabolism， isoquinoline alkaloid biosynthesis， phenylalanine， tyrosine and tryptophan biosynthesis， tryptophan metabolism， valine， leucine and isoleucine biosynthesis， pantothenate and coenzyme A biosynthesis may be the key pathways affecting metabolite differences of B. balsamifera after sweating treatment. ConclusionSweating can reduce the content of endophytic mycotoxins in B. balsamifera and has a great impact on the synthesis and metabolic pathways of total flavonoids and auxin. This study can provide a reference for the process research on the sweating conditions of B. balsamifera.