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.

Gorham-Stout disease(GSD) is a rare osteolytic disorder characterized by spontaneous and progressive osteolysis, along with abnormal angiogenesis and lymphangiogenesis, with no new bone formation. We present a case of a 15-year-old female admitted due to " recurrent right leg pain for 5 years, 11 months after undergoing right femoral fracture surgery". Through comprehensive integration of the patient's clinical phenotype, laboratory tests, imaging findings, pathological examinations, and molecular biological test results, GSD was considered highly likely. A multidisciplinary treatment approach was conducted, including a combination of zoledronic acid and sirolimus to inhibit osteolysis, along with rehabilitation training and orthopedic intervention, providing a personalized and comprehensive treatment strategy.

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs^*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.

Cancer stem cells (CSCs) are widely acknowledged as primary mediators to the initiation and progression of tumors. The association between microbial infection and cancer stemness has garnered considerable scholarly interest in recent years. Porphyromonas gingivalis (P. gingivalis) is increasingly considered to be closely related to the development of oral squamous cell carcinoma (OSCC). Nevertheless, the role of P. gingivalis in the stemness of OSCC cells remains uncertain. Herein, we showed that P. gingivalis was positively correlated with CSC markers expression in human OSCC specimens, promoted the stemness and tumorigenicity of OSCC cells, and enhanced tumor formation in nude mice. Mechanistically, P. gingivalis increased lipid synthesis in OSCC cells by upregulating the expression of stearoyl-CoA desaturase 1 (SCD1) expression, a key enzyme involved in lipid metabolism, which ultimately resulted in enhanced acquisition of stemness. Moreover, SCD1 suppression attenuated P. gingivalis-induced stemness of OSCC cells, including CSCs markers expression, sphere formation ability, chemoresistance, and tumor growth, in OSCC cells both in vitro and in vivo. Additionally, upregulation of SCD1 in P. gingivalis-infected OSCC cells was associated with the expression of KLF5, and that was modulated by P. gingivalis-activated NOD1 signaling. Taken together, these findings highlight the importance of SCD1-dependent lipid synthesis in P. gingivalis-induced stemness acquisition in OSCC cells, suggest that the NOD1/KLF5 axis may play a key role in regulating SCD1 expression and provide a molecular basis for targeting SCD1 as a new option for attenuating OSCC cells stemness.
Porphyromonas gingivalis/pathogenicity* ; Stearoyl-CoA Desaturase/metabolism* ; Humans ; Carcinoma, Squamous Cell/pathology* ; Mouth Neoplasms/metabolism* ; Animals ; Neoplastic Stem Cells/microbiology* ; Mice, Nude ; Mice ; Nod1 Signaling Adaptor Protein/metabolism* ; Kruppel-Like Transcription Factors/metabolism* ; Cell Line, Tumor

Patients with periodontal disease often require combined periodontal-orthodontic interventions to restore periodontal health, function, and aesthetics, ensuring both patient satisfaction and long-term stability. Managing these patients involving orthodontic tooth movement can be particularly challenging due to compromised periodontal soft and hard tissues, especially in severe cases. Therefore, close collaboration between orthodontists and periodontists for comprehensive diagnosis and sequential treatment, along with diligent patient compliance throughout the entire process, is crucial for achieving favorable treatment outcomes. Moreover, long-term orthodontic retention and periodontal follow-up are essential to sustain treatment success. This expert consensus, informed by the latest clinical research and practical experience, addresses clinical considerations for orthodontic treatment of periodontal patients, delineating indications, objectives, procedures, and principles with the aim of providing clear and practical guidance for clinical practitioners.
Humans ; Consensus ; Orthodontics, Corrective/standards* ; Periodontal Diseases/complications* ; Tooth Movement Techniques/methods* ; Practice Guidelines as Topic

Cemental tear is a rare and indetectable condition unless obvious clinical signs present with the involvement of surrounding periodontal and periapical tissues. Due to its clinical manifestations similar to common dental issues, such as vertical root fracture, primary endodontic diseases, and periodontal diseases, as well as the low awareness of cemental tear for clinicians, misdiagnosis often occurs. The critical principle for cemental tear treatment is to remove torn fragments, and overlooking fragments leads to futile therapy, which could deteriorate the conditions of the affected teeth. Therefore, accurate diagnosis and subsequent appropriate interventions are vital for managing cemental tear. Novel diagnostic tools, including cone-beam computed tomography (CBCT), microscopes, and enamel matrix derivatives, have improved early detection and management, enhancing tooth retention. The implementation of standardized diagnostic criteria and treatment protocols, combined with improved clinical awareness among dental professionals, serves to mitigate risks of diagnostic errors and suboptimal therapeutic interventions. This expert consensus reviewed the epidemiology, pathogenesis, potential predisposing factors, clinical manifestations, diagnosis, differential diagnosis, treatment, and prognosis of cemental tear, aiming to provide a clinical guideline and facilitate clinicians to have a better understanding of cemental tear.
Humans ; Dental Cementum/injuries* ; Consensus ; Diagnosis, Differential ; Cone-Beam Computed Tomography ; Tooth Fractures/therapy*

Objective:To explore the alexithymia of patients with kinesiophobia after total knee arthroplasty (TKA) and analyze its influencing factors.Methods:Convenience sampling was used to select 221 patients with kinesiophobia after TKA admitted to the First Affiliated Hospital of Zhengzhou University in Henan Province between June and October 2024. A survey was conducted using the self-designed General Information Questionnaire, Tampa Scale of Kinesiophobia-11, Chinese version of Toronto Alexithymia Scale-20 (TAS-20), Social Support Rating Scale, and General Self-efficacy Scale. Multiple linear regression was used to analyze the factors influencing patients' alexithymia.Results:A total of 221 questionnaires were distributed, and 210 questionnaires were effectively collected, with an effective response rate of 95.02%. Chinese version of TAS-20 score of 210 patients with kinesiophobia after TKA were (60.70±8.16), and the incidence of alexithymia was 52.86% (111/210), mainly manifested as describing emotional feeling disorders and externally oriented thinking disorders. Multiple linear regression analysis showed that educational level, per capita monthly household income, personality types, score of kinesiophobia, self-efficacy, and social support were statistically significant factors influencing the alexithymia of patients with kinesiophobia after TKA ( P<0.05), explaining 83.50% of the total variance. Conclusions:Patients with kinesiophobia after TKA have a high level of alexithymia. Patients with low educational level, low per capita monthly household income, introverted personalities, high levels of kinesiophobia, low self-efficacy, and low levels of social support are prone to developing alexithymia. Healthcare professionals should pay attention to the alexithymia of patients with kinesiophobia after TKA. Effective measures should be formulated from the aspects of emotional education, disease cognition, social skill training, and social support to reduce the level of alexithymia in patients with kinesiophobia.

Objective:To systematically synthesize the real experiences of women who have undergone emergency cesarean sections, providing evidence-based insights to inform the development of personalized care strategies.Methods:A comprehensive literature search was conducted across PubMed, Web of Science, Embase, CINAHL, Cochrane Library, PsycINFO, ProQuest, China National Knowledge Infrastructure, Wanfang Data, VIP, and China Biology Medicine disc for qualitative and mixed-methods studies related to the psychological experiences of women who underwent emergency cesarean sections. The search covered all publications up to January 31, 2025. The methodological quality of included studies was appraised using the Joanna Briggs Institute Center for Evidence-Based Health Care Quality Assessment Criteria for Qualitative Research. The results were integrated using an aggregative synthesis approach.Results:A total of 16 studies were included, from which 78 findings were extracted and grouped into nine new categories. These were further synthesized into three overarching themes: shift in birth plan and emergence of dynamic emotional responses; desire for diversified external support and encouragement; emotional investment and character growth.Conclusions:Women undergoing emergency cesarean sections commonly experience intense negative emotions. It is essential for healthcare providers and family members to pay close attention to the physical and psychological well-being of postpartum women, offer timely emotional support, and help them recover from psychological trauma, thereby promoting maternal mental and physical health.

Objective To investigate the efficacy,safety,and postoperative recovery of plasma radiofrequency ablation at varying dose parameters in pediatric adenoid hypertrophy,while analyzing the dose-effect relationship and determining the optimal parameter range,thus providing a scientific basis for clinical practice.Methods A retrospective analysis was conducted on 55 children diagnosed with adenoid hypertrophy.According to plasma radiofrequency ablation energy,patients were categorized into low-dose group(100 W,n=20),medium-dose group(200 W,n=20),and high-dose group(300 W,n=15).These groups were compared for adenoid-nasopharyngeal ratio improvement at 1-month follow-up,intraoperative blood loss,postoperative pain score,complication rate,and postoperative recovery time.Results Postoperative adenoid-nasopharyngeal ratio improvement was significantly greater in both medium-and high-dose groups as compared with low-dose group(P<0.05),while no significant difference was observed between medium-and high-dose groups(P>0.05).The high-dose group had intraoperative blood loss of(26.4±4.8)mL and higher postoperative wound bleeding incidence than low-and medium-dose groups(P<0.05).The postoperative pain scores on postoperative days 1 and 3 were higher in high-dose group than in the other two groups(P<0.05).These results suggested that medium-dose group achieved the optimal balance between efficacy,safety,and postoperative recovery.Conclusion Plasma radiofrequency ablation with a medium-dose setting of 200 W provides optimal adenoid removal while reducing intraoperative bleeding,minimizing postoperative complications,and shortening recovery time.

[Objective]To explore the medicinal qualities and background of CHEN Xiuyuan in treating gynecological disorders.[Methods]By reading CHEN Xiuyuan's book Gynaecological Essentials and analyzing its theoretical aspects,treatment concepts and medicinal aspects in relation to regulating women's menstruation,preparing for pregnancy,the perinatal and postnatal periods,etc.[Results]Gynaecological Essentials points out,in terms of diagnostic and therapeutic features,the gynecological disorders are always leukorrheal diseases;it emphasizes the importance of pulse diagnosis,advocates that regulating menstruation should be preceded by stabilizing the spleen and stomach,highlights that four essentials should support preparing for pregnancy,emphasizes spleen and kidney preservation for the fetus and that postpartum illnesses should not be limited in course of disease.In the drug characteristics,Ligusticum chuanxiong Hort(Chuan xiong)and Angelica sinensis(Danggui)are the first choice to replenish Qi and blood,Atractylodes macrocephalae(Baizhu)is an essential part of a prescription for calming the fetus,and the use of blood,flesh and sentimental products is preferred,while the use of medicines during pregnancy is advised to be within a reasonable range.[Conclusion]CHEN Xiuyuan learned the ancients but didn't stick stubbornly in treating gynecological diseases,emphasized the importance of pulse diagnosis,paid attention to the spleen and stomach,used medication to replenish Qi and blood,and the principle-method-recipe-medicines was very distinctive,which was of great significance to the differentiation and treatment of gynecological diseases in later generations.