OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a patient with Progressive pseudorheumatoid dysplasia (PPRD) due to compound heterozygous variants of CCN6 gene. METHODS: A patient who was admitted to Qilu Hospital of Shandong University due to "bilateral finger joint deformity, bilateral hip and knee joint movement limitation for 19 years" was selected as the study subject. Clinical data of the patient were retrospectively collected. Peripheral blood samples were collected from the patient and her parents and subjected to whole exome sequencing (WES). Long-read sequencing (LRS) and Sanger sequencing were used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was classified. This study was approved by the Medical Ethics Committee of Qilu Hospital of Shandong University (Ethics No.: KYLL-202502 061). RESULTS: The patient, a 23-year-old female, presented with progressive polyarticular deformity, limited movement and abnormal growth and development since childhood. She was initially misdiagnosed as Ankylosing spondylitis and had poor response to sulphasalazine and etoricoxib treatment. WES revealed that she has harbored two heterozygous variants of the CCN6 gene (NM_198239.2), namely c.348C>A and c.676G>C. LRS confirmed that the two variants are located on two homologous chromosomes and constitute compound heterozygous variants. Based on the ACMG guidelines, both variants were rated as pathogenic (PVS1+PM2_Supporting+PM3; PM1+PM2_Supporting+PM3_Supporting+PM5+PP3_Strong). The c.676G>C variant has not been recorded by the HGMD and ClinVar databases. CONCLUSION The c.348C>A and c.676G>C compound heterozygous variants of the CCN6 gene probably underlay the pathogenesis of PPRD in this patient. Above finding has enriched the mutational spectrum of PPRD and provided a basis for the clinical diagnosis and genetic counseling.
Humans ; Female ; CCN Intercellular Signaling Proteins/genetics* ; Phenotype ; Heterozygote ; Young Adult ; Mutation ; Exome Sequencing ; Joint Diseases/congenital*

Intelligent acupuncture-moxibustion medical equipment is an important force in promoting the inheritance, innovation, and modernization of acupuncture-moxibustion. This paper reviews the development status of intelligent acupuncture-moxibustion medical equipment and related new technologies, as well as the challenges faced. It is found that, with the advancement of technologies such as big data and artificial intelligence, acupuncture-moxibustion medical equipment has shown characteristics of greater precision, miniaturization, intelligence, and portability. However, deficiencies remain in areas such as standardization and regulation, including relatively low rates of effective transformation and a lack of innovation in research outcomes. Therefore, there is an urgent need to formulate corresponding strategies: improving the development of relevant standards for intelligent acupuncture-moxibustion medical equipment, encouraging the integration of medicine and engineering, cultivating interdisciplinary talents, and strengthening the protection of invention patents. It is necessary to establish a demand-oriented pathway connecting "equipment development, equipment evaluation, product formation" through multiple stages such as talent training and research project initiation, thereby promoting the modernization and standardization of intelligent acupuncture-moxibustion medical equipment and supporting the revitalization of traditional medicine.
Moxibustion/instrumentation* ; Humans ; Acupuncture Therapy/trends* ; Artificial Intelligence

Low-intensity pulsed ultrasound（LIPUS），with its remarkable advantages of higher safety and better penetrability，has gradually become a novel method of physical adjuvant therapy. Previous studies have verified that LIPUS can modulate the immune response of different immune cells such as macrophage，T lymphocyte，and neutrophil by reducing the level of pro-inflammatory cytokines. Therefore，it plays a crucial role on acceleration of fracture healing，expedition of wound repair，and repairation of myocardial injury. The review summarizes the regulatory effects and potential mechanisms of LIPUS on abnormal immune cell responses triggered by various diseases.

Objective:To explore the clinical phenotype and genetic characteristics of a patient with Progressive pseudorheumatoid dysplasia (PPRD) due to compound heterozygous variants of CCN6 gene. Methods:A patient who was admitted to Qilu Hospital of Shandong University due to " bilateral finger joint deformity, bilateral hip and knee joint movement limitation for 19 years" was selected as the study subject. Clinical data of the patient were retrospectively collected. Peripheral blood samples were collected from the patient and her parents and subjected to whole exome sequencing (WES). Long-read sequencing (LRS) and Sanger sequencing were used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was classified. This study was approved by the Medical Ethics Committee of Qilu Hospital of Shandong University (Ethics No.: KYLL-202502 061).Results:The patient, a 23-year-old female, presented with progressive polyarticular deformity, limited movement and abnormal growth and development since childhood. She was initially misdiagnosed as Ankylosing spondylitis and had poor response to sulphasalazine and etoricoxib treatment. WES revealed that she has harbored two heterozygous variants of the CCN6 gene (NM_198239.2), namely c. 348C>A and c. 676G>C. LRS confirmed that the two variants are located on two homologous chromosomes and constitute compound heterozygous variants. Based on the ACMG guidelines, both variants were rated as pathogenic (PVS1+ PM2_Supporting+ PM3; PM1+ PM2_Supporting+ PM3_Supporting+ PM5+ PP3_Strong). The c. 676G>C variant has not been recorded by the HGMD and ClinVar databases. Conclusion:The c. 348C>A and c. 676G>C compound heterozygous variants of the CCN6 gene probably underlay the pathogenesis of PPRD in this patient. Above finding has enriched the mutational spectrum of PPRD and provided a basis for the clinical diagnosis and genetic counseling.

For TCM to go global,while carrying forward its own characteristics,it should also build a set of measurement methods recognized by the international medical field.PRO scale is more and more widely used in the field of traditional Chinese medicine because there are many confluence points between PRO scale and TCM connotation.The patient-reported outcomes measurement information system(PROMIS)provides a reference for the development of PRO scales in the field of TCM.We can learn from the methods and models relied on by PROMIS and build a PRO evaluation system for TCM diseases based on TCM culture,so as to promote the standardization,standardization and modernization of TCM.

For TCM to go global,while carrying forward its own characteristics,it should also build a set of measurement methods recognized by the international medical field.PRO scale is more and more widely used in the field of traditional Chinese medicine because there are many confluence points between PRO scale and TCM connotation.The patient-reported outcomes measurement information system(PROMIS)provides a reference for the development of PRO scales in the field of TCM.We can learn from the methods and models relied on by PROMIS and build a PRO evaluation system for TCM diseases based on TCM culture,so as to promote the standardization,standardization and modernization of TCM.

Objective:To explore the clinical phenotype and genetic characteristics of a patient with Progressive pseudorheumatoid dysplasia (PPRD) due to compound heterozygous variants of CCN6 gene. Methods:A patient who was admitted to Qilu Hospital of Shandong University due to " bilateral finger joint deformity, bilateral hip and knee joint movement limitation for 19 years" was selected as the study subject. Clinical data of the patient were retrospectively collected. Peripheral blood samples were collected from the patient and her parents and subjected to whole exome sequencing (WES). Long-read sequencing (LRS) and Sanger sequencing were used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was classified. This study was approved by the Medical Ethics Committee of Qilu Hospital of Shandong University (Ethics No.: KYLL-202502 061).Results:The patient, a 23-year-old female, presented with progressive polyarticular deformity, limited movement and abnormal growth and development since childhood. She was initially misdiagnosed as Ankylosing spondylitis and had poor response to sulphasalazine and etoricoxib treatment. WES revealed that she has harbored two heterozygous variants of the CCN6 gene (NM_198239.2), namely c. 348C>A and c. 676G>C. LRS confirmed that the two variants are located on two homologous chromosomes and constitute compound heterozygous variants. Based on the ACMG guidelines, both variants were rated as pathogenic (PVS1+ PM2_Supporting+ PM3; PM1+ PM2_Supporting+ PM3_Supporting+ PM5+ PP3_Strong). The c. 676G>C variant has not been recorded by the HGMD and ClinVar databases. Conclusion:The c. 348C>A and c. 676G>C compound heterozygous variants of the CCN6 gene probably underlay the pathogenesis of PPRD in this patient. Above finding has enriched the mutational spectrum of PPRD and provided a basis for the clinical diagnosis and genetic counseling.

Low-intensity pulsed ultrasound（LIPUS），with its remarkable advantages of higher safety and better penetrability，has gradually become a novel method of physical adjuvant therapy. Previous studies have verified that LIPUS can modulate the immune response of different immune cells such as macrophage，T lymphocyte，and neutrophil by reducing the level of pro-inflammatory cytokines. Therefore，it plays a crucial role on acceleration of fracture healing，expedition of wound repair，and repairation of myocardial injury. The review summarizes the regulatory effects and potential mechanisms of LIPUS on abnormal immune cell responses triggered by various diseases.

Objective To explore the effects of different acupoints,different target organs,and different interventions on acupoint efficacy based on ACU&MOX-DATA platform;To illustrate and visualize whether the above factors have the characteristics of"specific effect"or"common effect"of acupoint efficacy.Methods The multi-source heterogeneous data were integrated from the original omics data and public omics data.After standardization,differential gene analysis,disease pathology network analysis,and enrichment analysis were performed using Batch Search and Stimulation Mode modules in ACU&MOX-DATA platform under the conditions of different acupoints,different target organs,and different interventions.Results Under the same disease state and the same intervention,there were differences in effects among different acupoints;under the same disease state,the same acupoint and intervention,the responses produced by different target organs were not completely consistent;under the same disease state and acupoint,there were differences in effects among different intervention measures.Conclusion Based on the analysis of ACU&MOX-DATA platform,it is preliminary clear that acupoints,target organs,and interventions are the key factors affecting acupoint efficacy.Meanwhile,the above results have indicated that there are specific or common regulatory characteristics of acupoint efficacy.Applying ACU&MOX-DATA platform to analyze and visualize the critical scientific problems in the field of acupuncture and moxibustion can provide references for deepening acupoint cognition,guiding clinical acupoint selection,and improving clinical efficacy.

OBJECTIVE To establish a GC-MS/MS analytical method for the determination of 1-chloroethyl cyclohexyl carbonate in candesartan cilexetil tablets. METHODS The analytical column was DB-5MS(30 m×0.25 mm, 0.25 μm). The column temperature was maintained at 80 ℃, then was raised to 300 ℃ at the rate of 20 ℃·min–1 and was maintained for 5 min. Helium was used as carrier gas, and its flow rate was 1.0 mL·min–1. The detection was achieved in multiple reaction monitoring mode. RESULTS The calibration curve of 1-chloroethyl cyclohexyl carbonate had good linearity in the concentration range of 4.4−437.8 ng·mL–1. The limits of quantification and detection were 4.4 and 2.2 ng·mL–1, respectively. The average recovery was 95.6%(RSD=6.3%, n=9). CONCLUSION This method has satisfactory convenience, good sensitivity and high accuracy, and it is suitable for the determination of 1-chloroethyl cyclohexyl carbonate in candesartan cilexetil tablets.