Rheumatoid arthritis （RA） is a chronic systemic autoimmune disease with complex pathogenesis， poor cure rate， long course of disease， and high disability rate， which seriously affects patients' quality of life. Western medicine treatment of RA mainly includes non-steroidal anti-inflammatory drugs， rheumatic drugs， glucocorticoids， biologics， and targeted small-molecule drugs， which have large side effects and many adverse reactions. Traditional Chinese medicine （TCM） has systematic， comprehensive， multi-target， and multi-mechanism advantages in the treatment of RA. Through the overall syndrome pattern identification， it is effective in relieving symptoms， delaying onset， and relieving pain in RA patients by dispelling wind and removing dampness， dissipating cold and dredging collaterals， clearing heat and removing toxin， resolving phlegm and removing blood stasis， and relaxing sinew and activating collaterals. In recent years， TCM has made remarkable progress in the intervention of RA by regulating the nuclear transcription factor-κB （NF-κB） signaling network. They include Toll-like receptor 4 （TLR4）， phosphoinositol 3 kinase （PI3K）/protein kinase B （Akt）， mitogen-activated protein kinase （MAPK）， Nod-like receptor protein 3 （NLRP3）， nuclear factor E₂ associated factor 2 （Nrf2）， Janus kinase 2 （JAK2）/signaling and transcriptional activator 3 （STAT3）， and Toll-like receptor 2 （TLR2）. The regulatory mechanism of NF-κB signaling network is complex： TLR4 is the upstream receptor of NF-κB， PI3K/Akt and MAPK pathways can not only regulate the activity of NF-κB， but also serve as its downstream effect pathway， Nrf2 and NF-κB often have antagonistic effects in the regulation of inflammatory response. Therefore， the research progress of regulating NF-κB signaling network by traditional Chinese medicine in the intervention of RA was summarized to provide a reference for the treatment of RA disease and the development of new drugs.

Purpose To establish and evaluate a high-speed fragment-induced penetrating liver injury model in pigs assisted by portable ultrasound.Materials and Methods With the aid of portable ultrasound,the lower edge of the liver at the end of expiration and the lower edge of the right chest at the end of inspiration of 10 Landrace pigs were positioned on the body surface.Then the sighting line was traced to determine the direction of projection and the sighting point.High-speed(about 627 m/s)fragments were projected through an experimental ballistic gun to induce penetrating liver injury.Blood pressure,heart rate,respiratory rate,pulse oxygen saturation and other physiological indexes were measured 15 minutes before shooting and 20 minutes after shooting.20 minutes after injury,the liver injury and the degree of injury were examined by ultrasound.After injury,the liver injury and abdominal fluid accumulation were observed by on-site portable ultrasound,and the size of liver trauma,liver injury grade,abdominal fluid accumulation location and maximum depth were recorded.The degree of liver injury was evaluated by comparison with the gross pathological results.Results Nine out of ten pigs were successfully modeled.The success rate of penetrating liver injury induced by fragments was 90%(9/10),other organ injury in abdominal cavity was 22.22%(2/9),and diaphragm penetrating injury was 22.22%(2/9),which did not occur obvious hemopneumothorax.After injury,the systolic blood pressure,diastolic blood pressure,and pulse oxygen saturation of the pigs decreased[(132.44±12.65)mmHg vs.(103.33±33.43)mmHg,(96.44±12.27)mmHg vs.(70.89±24.21)mmHg,(89.44±8.49)%vs.(76.00±13.41)%;t=2.440,2.651,4.084,all P<0.05],and the heart rate increased[(94.00±17.39)times/min vs.(139.89±37.21)times/min;t=3.534,P<0.05].Within 20 minutes after modeling,portable ultrasound images showed that the liver injury was a patchy,heterogeneous,slightly strong echo area with clear and irregular boundary,and the continuity of the local liver capsule was interrupted.The ascites appeared in the abdominal cavity with the maximum depth of(4.16±1.35)cm.The American association for the surgery of trauma(AAST)liver injury grading of gross pathology after the animals were killed showed that there were 6 cases of grade Ⅱ and 3 cases of grade Ⅲ.Along the fragment projection direction,the short diameter measured by ultrasound was positively correlated with the depth of gross pathological laceration(r=0.945,P<0.001).Compared with the gross specimen,the accuracy rate of ultrasonic AAST grading of liver injury was 88.89%(8/9).Conclusion The model of high-speed fragment-induced liver injury in pigs assisted by portable ultrasound is accurate and stable,and portable ultrasound can effectively evaluate the penetrating liver injury,which provides a basis for the treatment of liver firearm injury.

Objective To analyze the prognosis and influencing factors in patients with radioiodine-refractory differentiated thyroid cancer (RAIR-DTC). Methods A retrospective analysis was conducted on 52 patients with RAIR-DTC who underwent ineffective ¹³¹I therapy at the Department of Nuclear Medicine, Cancer Hospital, Chinese Academy of Medical Sciences from October 2016 to January 2020. Patients were categorized into progression and stable groups based on disease progression within five years post-treatment. Differences between groups were analyzed using chi-square test and logistic regression. Independent prognostic risk factors were identified using a Cox proportional hazards model. The Kaplan-Meier method with log-rank test was used to evaluate the impact of treatment on the prognosis of the progression group. Results The 3-year and 5-year survival rates of the 52 patients with RAIR-DTC were 88.5% and 73.1%, respectively. In the progression group, the rates were 81.8% and 57.6%. In the stable group, the rates were 100% and 100%. There were significant differences between the two groups in terms of age, presence of extrathyroidal extension, and the initial ¹³¹I treatment dose (P < 0.05). Univariate analysis indicated that the age, pre-ablation stimulated thyroglobulin level before the first ¹³¹I treatment, the neutrophil-to-lymphocyte ratio before the first treatment, and the sites of recurrence and metastasis were significantly associated with overall survival (P < 0.05). Multivariate analysis showed that age > 55 years (HR=12.40, 95% CI= 2.09-73.57, P=0.001) and distant metastasis (HR=24.47, 95% CI=4.17-143.75, P < 0.001) were independent risk factors for poor prognosis. Kaplan-Meier curve analysis showed that local surgery and/or targeted therapy significantly prolonged progression-free survival in the progression group (P < 0.001). Conclusion The prognosis for RAIR-DTC is poor, with advanced age and distant metastasis significantly associated with unfavorable outcomes. In elderly patients and those with extrathyroidal invasion, the treatment dose during initial ¹³¹I therapy may be appropriately increased to delay disease progression. For patients with disease progression, prompt local surgical intervention and/or targeted therapy is recommended.

Multimodal fusion research in traditional Chinese medicine （TCM） inspection has greatly improved the accuracy of identification results with the help of emerging technologies in science and technology. At present， multimodal fusion technology is used in the integration of the parameters collected by the inspection instruments and the analysis of the parameters， which is represented by the development and application of the tongue inspection instrument， the face inspection instrument and the eye inspection instrument. However， the multimodal fusion research of TCM inspection has problems such as insufficient comprehensiveness and accuracy of parameter acquisition， difficulty in parameter integration for fusion analysis， and low clinical practicability of identification results. It is believed that， while keeping up with the cutting-edge science and technology， research on multimodal fusion of TCM inspection should be guided by the holism concept of TCM， and should focus on the enhancement of comprehensiveness and accuracy of multimodal parameter acquisition， standardisation of parameter fusion， and fusion of identification results， so as to gradually promote the objectivity， intelligence and modernisation of the four diagnostic methods of TCM.

Objective To analyze the prognosis and influencing factors in patients with radioiodine-refractory differentiated thyroid cancer (RAIR-DTC). Methods A retrospective analysis was conducted on 52 patients with RAIR-DTC who underwent ineffective ¹³¹I therapy at the Department of Nuclear Medicine, Cancer Hospital, Chinese Academy of Medical Sciences from October 2016 to January 2020. Patients were categorized into progression and stable groups based on disease progression within five years post-treatment. Differences between groups were analyzed using chi-square test and logistic regression. Independent prognostic risk factors were identified using a Cox proportional hazards model. The Kaplan-Meier method with log-rank test was used to evaluate the impact of treatment on the prognosis of the progression group. Results The 3-year and 5-year survival rates of the 52 patients with RAIR-DTC were 88.5% and 73.1%, respectively. In the progression group, the rates were 81.8% and 57.6%. In the stable group, the rates were 100% and 100%. There were significant differences between the two groups in terms of age, presence of extrathyroidal extension, and the initial ¹³¹I treatment dose (P < 0.05). Univariate analysis indicated that the age, pre-ablation stimulated thyroglobulin level before the first ¹³¹I treatment, the neutrophil-to-lymphocyte ratio before the first treatment, and the sites of recurrence and metastasis were significantly associated with overall survival (P < 0.05). Multivariate analysis showed that age > 55 years (HR=12.40, 95% CI= 2.09-73.57, P=0.001) and distant metastasis (HR=24.47, 95% CI=4.17-143.75, P < 0.001) were independent risk factors for poor prognosis. Kaplan-Meier curve analysis showed that local surgery and/or targeted therapy significantly prolonged progression-free survival in the progression group (P < 0.001). Conclusion The prognosis for RAIR-DTC is poor, with advanced age and distant metastasis significantly associated with unfavorable outcomes. In elderly patients and those with extrathyroidal invasion, the treatment dose during initial ¹³¹I therapy may be appropriately increased to delay disease progression. For patients with disease progression, prompt local surgical intervention and/or targeted therapy is recommended.

Objective To screen self-assessed differentially expressed genes of cataracts and cataract-related genes from the International Mouse Phenotyping Consortium(IMPC),Mouse Genome Informatics(MGI),Cat-Map and GWAS Catalog and perform bioinformatics analysis,exploring potential pathogenic genes and signaling pathways in cataract patho-genesis.Methods The transparent anterior lens capsules of cataract patients and personnel in the control group were collected,total ribonucleic acid(RNA)was extracted,the library was constructed for sequencing,and differentially ex-pressed genes were analyzed.Data about the cataract phenotype-related genes was downloaded from IMPC,MGI and GWAS Catalog,the latest data from Cat-Map was downloaded,cataract susceptible gene annotation was performed,the characteristics of data from each database and the differentially expressed genes were analyzed,and Gene Ontology enrich-ment analysis,Kyoto Encyclopedia of Genes and Genomes enrichment analysis and protein-protein interaction(PPI)net-work analysis were carried out.Results Cataract susceptible single nucleotide polymorphism(SNP)annotation found a total of 21 potential target genes.IMPC,MGI,Cat-Map,and SNP target genes were enriched in the regulation of RNA poly-merase promoters,protein binding,cell division,peroxisome,and cell metabolism.The PPI network of core proteins fo-cused on the peroxisome family and function-related genes.The differentially expressed genes obtained from sequencing da-ta of transparent anterior lens capsules of cataract patients and personnel in the control group were enriched in mitogen-ac-tivated protein kinase(MAPK)signaling pathway,signal transduction,ion transport,metabolism,peroxisome,and cell adhesion pathways.Compared with the sequencing differentially expressed data of cataract patients,the differentially ex-pressed genes obtained from IMPC,MGI,Cat-Map,and SNP target gene sets were enriched in intracellular signal transduc-tion,MAPK signaling pathway,circadian rhythm,cyclic adenosine monophosphate,and calcium pathway.TRIM22,OAS3,EPSTI1,ZC3HAV1,SP110 and PARP12 protein networks of cataracts were identified based on the PPI networks.Conclu-sion The pathways and biological functions involved in the PPI networks of TRIM22,OAS3,EPSTI1,ZC3HAV1,SP110 and PARP12 may be a new pathogenic mechanism for cataracts.

17q12 microdeletion syndrome is a rare genetic disease,commonly characterized by newly occurring mutations,which can cause abnormalities of the urinary and reproductive tract,diabetes mellitus,neurological and psychiatric disorders and mild deformities.This article reports a case of 17q12 microdeletion syndrome with CRYBB2 gene missense mutation,combined with menstrual abnormalities,multiple cysts in both kidneys,hypomagnesemia,hyperuricemia,small pancreatic morphology and low pancreatic enzyme levels.

Objective:To analyze the problems existing in the cases of hospitals infringing upon patients′ informed consent right after the promulgation of the Civil Code of the People′ s Republic of China, and to provide reference for improving the legal system of informed consent. Methods:Search for judgment documents published from January 1, 2021 to June 30, 2023 on the China Judgment Document Network using the keyword " liability dispute for infringing on patients′ informed consent rights", and conduct descriptive and textual analysis on the cases in the judgment documents.Results:68 judgment documents were included in total.There were 11 judgment documents on infringement of patients′ right to informed consent, and all related cases have undergone appraisal. The content of infringement mainly included infringement of patients′ right to know their condition (12/20), infringement of patients′ right to access their medical records (6/20), infringement of patients′ right to bodily integrity without consent (2/20). There were 15 judgment documents which judge that the right of informed consent of patients wasn′t infringed, and only one case in the document has been appraised. The main focus of controversy was the issue of the priority of the exercise of the right to informed consent (2/15), the fulfillment of the obligation to inform the right to informed consent (5/15), the issue of surgery without notification (1/15), and the issue of determining the authenticity of medical records and providing medical materials (7/15).Conclusions:The legal protection of patients′ right to informed consent still faces judicial difficulties such as unclear order of the exercise of rights subject, insufficient specificity of the scope of the exercise of the right, conflicts between the right to informed consent and medical intervention, and lack of unified identification methods for infringement liability. It is suggested to standardize the order of the exercise subject of the right to informed consent, clarify the content of the obligation of the medical party to inform, construct a system for medical intervention, and unify the identification methods for disputes related to the right to informed consent.

OBJECTIVE: To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography. METHODS: Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH). RESULTS: The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) translocation. CONCLUSION CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.
Pregnancy ; Female ; Humans ; Cri-du-Chat Syndrome ; In Situ Hybridization, Fluorescence ; DNA Copy Number Variations ; Prenatal Diagnosis ; Fetus ; Amniotic Fluid ; Chromosome Deletion

Objective:To explore the value of conventional ultrasonography combined with cervical compression in the diagnosis of orbital venous malformation (OVM).Methods:A total of 43 patients with suspected OVM were admitted in sequentially from January 2019 to July 2022 in the Third Medical Center of PLA General Hospital. All patients were examined by ultrasonography combined with cervical compression and demonstrated by operation or digital subtraction angiography (DSA). The conventional ultrasound features of OVM were summarized, and the value of conventional ultrasonography combined with cervical compression in the diagnosis of OVM was discussed.Results:The features of the conventional ultrasound combined with cervical compression for diagnosis of OVM were as follows: the interior of lesion was mainly tubular structure, and the compression test was positive. After cervical compression, the lesion enlarged and the inner diameter of the internal tubular structure widened. Doppler flow imaging showed that the interior of lesion was mainly venous blood flow. Compared with the results of postoperative pathology or DSA, the sensitivity, specificity, accuracy and positive predictive value of ultrasonography combined with cervical compression were 0.952, 1.000, 95.3% and 100%, respectively. The results of Fisher exact diagnosis showed that there was no significant difference between ultrasonography and operation or DSA of OVM( P>0.05). Conclusions:Conventional ultrasound combined with cervical compression can be used as an effective method for the diagnosis of OVM.