OBJECTIVE: To explore the genetic etiology for a pregnant woman with a history of multiple adverse pregnancies and assess the phenotype-genotype correlation of 22q11.2 microduplication syndrome in her family. METHODS: Amniotic fluid sample was taken from a pregnant woman for whom non-invasive prenatal screening indicated chromosome 22 abnormalities in the fetus. Peripheral blood samples from the woman, her brother and parents were collected for high-throughput low-depth whole genome sequencing (CNV-seq). A pedigree traceability analysis of the results was conducted in conjunction with analysis of clinical manifestation. Relevant literature (from establishment to March 2025) was systematically searched. This study was approved by the Medical Ethics Committee of Mianyang Maternal and Child Health Care Hospital (Ethics No.: Lun Shen [2024]009). RESULTS: CNV-seq revealed that the fetus had harbored a 6.02 Mb duplication at 22q11.21q11.23. Karyotyping confirmed it as 46,X?dup(22)(q11.2). Pedigree verification demonstrated that the pregnant woman, her brother and mother had all carried the same duplication. Phenotypic analysis of the affected family members showed classic features of 22q11.2 microduplication syndrome, including hypernasal speech, low nasal bridge, congenital heart disease, and cognitive impairment. A total of 44 cases with full information (including three patients from this pedigree) were included in the analysis. The penetrance of 22q11.2 duplication was approximately 29.5% (13/44), and 52.3% (23/44) of the cases had inherited the variant from a phenotypically normal parent. CONCLUSION This study has identified the genetic basis for the woman's recurrent adverse pregnancies and phenotypic abnormalities in her family members. The scoliosis identified in her younger brother has not been previously reported, thereby may enrich the clinical phenotype of this syndrome. For fetuses identified with a 22q11.2 microduplication, detailed fetal imaging is recommended, and genetic counseling should be provided to the couples.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; Chromosome Duplication/genetics* ; Male ; Pedigree ; DiGeorge Syndrome/diagnosis* ; Adult ; Chromosomes, Human, Pair 22/genetics* ; Abnormalities, Multiple

Artificial life is the goal pursued by cognitive philosophy， cognitive science， and artificial intelligence， yet its realization has consistently encountered challenge. The generative mechanisms of artificial life include self-organization， emergence， and agency， all of which are difficult to precisely grasp in the cognitive paradigm. Evolutionary biology demonstrates that natural life possesses extraordinary adaptability. For artificial artifacts， the way to endow them with life-like characteristics involves first transforming them into self-organizing systems with emergence， and then evolving them into embodied agents possessing agency and moral cognitive capacity. This process reveals the functional and informational properties of artificial life， manifesting its adaptive representational character.

To compare the clinical efficacy of intralesional corticosteroid injection combined with topical corticosteroids versus topical corticosteroids alone in patients with idiopathic granulomatous mastitis (IGM).

BACKGROUND:Knee osteoarthritis(KOA)is a common chronic inflammatory disease that causes damage to joint cartilage and surrounding tissues.Immune cells play an important role in the immune-inflammatory response in knee osteoarthritis,but the specific mechanisms involved are still not fully understood. OBJECTIVE:To evaluate the potential causal relationship between 731 immune cell phenotypes and the risk of knee osteoarthritis using Mendelian randomization. METHODS:Summary statistics of genome-wide association studies(GWAS)for 731 immune cell phenotypes(from GCST0001391 to GCST0002121)obtained from the GWAS catalog and GWAS data for knee osteoarthritis from the IEUGWAS database(ebi-a-GCST007090)were used.Inverse variance-weighted method,MR-Egger regression,weighted median method,weighted mode method,and simple mode method were employed to investigate the causal relationship between immune cells and knee osteoarthritis.Sensitivity analyses were conducted to assess the reliability of the Mendelian randomization results.Reverse Mendelian randomization analysis was also performed using the same methods. RESULTS AND CONCLUSION:The forward MR analysis indicated significant causal relationships(FDR<0.20)between knee osteoarthritis and four immune cell phenotypes,namely CD27 on CD24+CD27+in B cells(OR=1.026,P=0.000 26,Pfdr=0.18),CD33 on CD33dim HLA DR-in myeloid cells(OR=1.014,P=0.000 50,Pfdr=0.18),and CD45RA+CD28-CD8br%CD8br in Treg cells(OR=1.001,P=0.000 78,Pfdr=0.18),and PDL-1 on monocytes in mononuclear cells(OR=0.952,P=0.000 98,Pfdr=0.18).These immune cell phenotypes showed direct positive or negative causal associations with the risk of knee osteoarthritis.Reverse Mendelian randomization analysis revealed no significant causal relationships(FDR<0.20)between knee osteoarthritis as exposure and any of the 731 immune cell phenotypes.The results of sensitivity analysis show that the P-values of the Cochran's Q test and the MR-Egger regression method for bidirectional Mendelian randomization were both greater than 0.05,indicating that there is no significant heterogeneity and pleiotropy in the causal effect analysis between immune cell phenotypes and knee osteoarthritis.To conclude,there may be four potential causal relationships between immune cell phenotypes,such as CD27 on CD24+CD27+cells,CD33 on CD33dim HLA DR-cells,CD45RA+CD28-CD8br%CD8br cells,and PDL-1 on monocytes,and knee osteoarthritis.These findings provide valuable clues for studying the biological mechanisms of knee osteoarthritis and exploring early prevention and treatment strategies.They also offer new directions for the development of intervention drugs.

OBJECTIVE: To summarize the clinical characteristics of foot and ankle deformities combined with knee and lower limb deformities and evaluate the advantages, clinical outcomes, and considerations of QIN Sihe's surgical strategy for treating such complex deformities. METHODS: Between January 2022 and December 2024, 32 patients with foot and ankle deformities combined with knee and lower limb deformities were enrolled. The cohort included 23 males and 9 females, aged 10-67 years (mean, 41.1 years). The main etiologies included post-polio sequelae (20 cases) and congenital limb deformities (3 cases). Deformities were categorized as follows: equinovarus foot (12 cases), equinus foot (2 cases), equinovalgus foot (3 cases), equinus foot with swan-neck deformity (2 cases), calcaneus foot (5 cases), foot valgus (2 cases), knee flexion deformity (14 cases), genu recurvatum (4 cases), genu varum (3 cases), genu valgum (3 cases), lower limb shortening (3 cases), and lower limb external rotation (6 cases). QIN Sihe's surgical strategies included osteotomies, tendon releases, and tendon transfers for deformity correction, followed by external fixation for residual deformity adjustment and stabilization. Outcomes were assessed using QIN Sihe's Postoperative Evaluation Criteria for Lower Limb (Foot and Ankle) Deformity Correction and Functional Reconstruction. RESULTS: All patients were followed up 8-32 months (mean, 16.5 months). Complications included pin tract infection (1 case, 1 site), ankle pain (2 cases), delayed healing at the proximal tibial osteotomy site (1 case), and anterior talar dislocation (1 case). At last follow-up, insufficient correction of foot deformity was observed in 1 case; both knee and lower limb deformities were corrected, with only mild recurrence of knee flexion deformity in 1 case. The foot/ankle and knee joint function improved. Based on QIN Sihe's Postoperative Evaluation Criteria for Lower Limb (Foot and Ankle) Deformity Correction and Functional Reconstruction, outcomes were rated as excellent in 30 cases and good in 2 cases, with an excellent-good rate of 100%. CONCLUSION Foot and ankle deformities combined with knee and lower limb deformities are complex, QIN Sihe's surgical strategy can achieve satisfactory clinical outcomes for simultaneous correction.
Humans ; Male ; Female ; Adult ; Middle Aged ; Child ; Adolescent ; Aged ; Treatment Outcome ; Young Adult ; Plastic Surgery Procedures/methods* ; Lower Extremity Deformities, Congenital/surgery* ; Osteotomy/methods* ; Foot Deformities, Congenital/surgery* ; Ankle Joint/surgery* ; Knee Joint/surgery* ; Foot Deformities/surgery*

The armadillo repeat containing 5 (ARMC5) gene is part of a family of protein-coding genes that are rich in armadillo repeat sequences, are ubiquitously present in eukaryotes, and mediate interactions between proteins, playing roles in various cellular processes. Current research has demonstrated that reduced expression or absence of the ARMC5 gene in various tumor tissues can lead to uncontrolled cell proliferation, thereby inducing a range of diseases. The ARMC5 gene was initially extensively studied in the context of bilateral macronodular adrenocortical disease (BMAD), with harmful pathogenic variants in ARMC5 identified in approximately 50% of BMAD patients. With advancing research, scientists have discovered that ARMC5 pathogenic variants may also have potential effects on other diseases and could be associated with increased susceptibility to certain cancers. This review aims to present the latest research progress on how the ARMC5 gene plays its role in tumors. It outlines the basic structure of ARMC5 and the regions where it functions, as well as the diseases currently proven to be associated with ARMC5. Moreover, some evidence suggests its relation to embryonic development and the regulation of immune system activity. In conclusion, the ARMC5 gene is a crucial focal point in genetic and medical research. Understanding its function and regulation is of great importance for the development of new therapeutic strategies related to diseases associated with its pathogenic variants.
Humans ; Neoplasms/genetics* ; Armadillo Domain Proteins/genetics* ; Animals ; Genetic Predisposition to Disease ; Cytoskeletal Proteins/genetics* ; Tumor Suppressor Proteins/genetics*

Objective:To explore the association of 21-gene recurrence score (RS) and clinicopathologic characteristics of hormone receptor (HR) positive T1-3N1M0 breast cancer and its value in prognosis evaluation.Methods:The clinicopathological data of 287 patients with T1-3N1M0 breast cancer were collected, the 21-gene assay was completed, and follow-up was conducted. According to the 21-gene RS, the patients were divided into the RS<26 and RS≥26 groups. The relationship between the 21-gene RS and clinicopathological characteristics, treatment, recurrence, and metastasis was analyzed. Univariate and multivariate statistical analyses were used to analyze the risk factors for disease free survival (DFS).Results:The median RS of the 287 patients was 16. There were 240 cases with RS <26 and 47 cases with RS≥26. Tumor size, grade, estrogen receptor (ER), progesterone receptor (PR), and Ki-67 index were significantly different between the two cohorts ( P<0.05 for all). After a median follow-up of 74 months, the recurrence rate in the RS<26 group (8.3%) was significantly lower than that in the RS≥26 group (23.4%), the locoregional recurrence (LRR) rates in the RS<26 and RS≥26 groups were 2.1% and 0%,and the distant metastasis (DM) rates were 6.3% and 23.4%, respectively. The 5-year relapse free survival (RFS) rates of patients with RS<26 and RS≥26 were 93.8% (95% CI: 90.7%-96.9%) and 87.2% (95% CI: 78.2%-97.3%), and the 5-year DFS rates were 92.1% (95% CI: 88.7%-95.6%) and 85.1% (95% CI: 75.5%-95.9%), respectively, with significant differences between the two cohorts ( P=0.007 and P=0.006, respectively). Univariate analysis showed age, tumor size, grade, PR status, Ki-67 index and RS were prognostic factors for DFS ( P<0.05 for all). Multivariate analysis showed that age and tumor size were independent significant predictors for DFS ( P<0.05). Conclusions:The 21-gene RS of T1-3N1M0 breast cancer is related to tumor size, grade, ER, PR, and Ki-67 index. RS is an important factor affecting DM and DFS.

Objective To explore the efficacy of internal fixation of TightRope buckle steel plate with robot assistance for acute acromioclavicular joint dislocation.Methods From October 2022 to December 2023,17 patients with acute acromioclavicular dislocation admitted to our hospital were treated with robot assisted TightRope buckle steel plate fixation.According to the Rockwood classification,there were 2 patients with type Ⅱ and 15 patients with type Ⅲ.Preoperative planning was carried out by the robot's"super brain".During the surgery,under the guidance of the robotic arm,a hole was drilled from the clavicle to the coracoid process,and one end of the loop steel plate was pushed into the coracoid process to tighten the tail line,achieving the goal of resetting the acromioclavicular joint.Results The operations were successfully completed in all the 17 patients,with an operation time of 15-42 min(mean,27.9 min)and intraoperative blood loss of 5-25 ml(mean,10.4 ml).Postoperative DR showed that the acromioclavicular joint had been reduced.All incisions healed in one stage without any vascular or nerve related complications.On the second day after surgery,CT evaluation showed that the accuracy of clavicle drilling position was excellent in 12 cases and good in 5 cases and accuracy of coracoid process drilling was excellent in 9 cases,good in 7 cases,and poor in 1 case.All the 17 patients were followed up for 6-12 months,with an average of 10.4 months.On the second day and six months after surgery,there were no significant differences in the distance between the surface cortex below the acromion and the surface cortex below the distal clavicle on the affected and healthy side[0.15(0.00,0.50)mm vs.-0.40(0.70,0.70)mm,Z=-1.553,P=0.120;0.15(0.00,0.50)mm vs.0.20(-0.25,0.85)mm,Z=-0.466,P=0.641].At six months after surgery,the distance between the surface cortex below the acromion and the surface cortex below the distal clavicle on the affected side was significantly higher than on the second day[0.20(-0.25,0.85)mm vs.-0.40(0.70,0.70)mm,Z=-3.426,P=0.001].On the second day after surgery,the Visual Analogue Scale(VAS)score was 3.0(3.0,4.0)points,significantly lower than the preoperative score of 4.0(3.5,5.5)points(Z=-2.716,P=0.007).On the sixth month,the VAS score was1.0(0.0,1.5)points,significantly lower than the preoperative score(Z=-3.649,P=0.000)and on the second day after surgery(Z=-3.672,P=0.000).At the last follow-up,the Constant Murley score for shoulder joint function ranged 91-100 points,with an average of 94.3 points,all of which were excellent.The American Shoulder and Elbow Surgeons(ASES)score ranged 87-100 points,with an average of 96.7 points,the excellent and good rate being 100%(15 cases were excellent and 2 cases were good).Conclusion The use of robot assisted TightRope buckle loop steel plate internal fixation technology for the treatment of acute Rockwood type Ⅱ and Ⅲ acromioclavicular dislocation has good therapeutic effects.

Objective:To explore the association of 21-gene recurrence score (RS) and clinicopathologic characteristics of hormone receptor (HR) positive T1-3N1M0 breast cancer and its value in prognosis evaluation.Methods:The clinicopathological data of 287 patients with T1-3N1M0 breast cancer were collected, the 21-gene assay was completed, and follow-up was conducted. According to the 21-gene RS, the patients were divided into the RS<26 and RS≥26 groups. The relationship between the 21-gene RS and clinicopathological characteristics, treatment, recurrence, and metastasis was analyzed. Univariate and multivariate statistical analyses were used to analyze the risk factors for disease free survival (DFS).Results:The median RS of the 287 patients was 16. There were 240 cases with RS <26 and 47 cases with RS≥26. Tumor size, grade, estrogen receptor (ER), progesterone receptor (PR), and Ki-67 index were significantly different between the two cohorts ( P<0.05 for all). After a median follow-up of 74 months, the recurrence rate in the RS<26 group (8.3%) was significantly lower than that in the RS≥26 group (23.4%), the locoregional recurrence (LRR) rates in the RS<26 and RS≥26 groups were 2.1% and 0%,and the distant metastasis (DM) rates were 6.3% and 23.4%, respectively. The 5-year relapse free survival (RFS) rates of patients with RS<26 and RS≥26 were 93.8% (95% CI: 90.7%-96.9%) and 87.2% (95% CI: 78.2%-97.3%), and the 5-year DFS rates were 92.1% (95% CI: 88.7%-95.6%) and 85.1% (95% CI: 75.5%-95.9%), respectively, with significant differences between the two cohorts ( P=0.007 and P=0.006, respectively). Univariate analysis showed age, tumor size, grade, PR status, Ki-67 index and RS were prognostic factors for DFS ( P<0.05 for all). Multivariate analysis showed that age and tumor size were independent significant predictors for DFS ( P<0.05). Conclusions:The 21-gene RS of T1-3N1M0 breast cancer is related to tumor size, grade, ER, PR, and Ki-67 index. RS is an important factor affecting DM and DFS.

Objective To explore the efficacy of internal fixation of TightRope buckle steel plate with robot assistance for acute acromioclavicular joint dislocation.Methods From October 2022 to December 2023,17 patients with acute acromioclavicular dislocation admitted to our hospital were treated with robot assisted TightRope buckle steel plate fixation.According to the Rockwood classification,there were 2 patients with type Ⅱ and 15 patients with type Ⅲ.Preoperative planning was carried out by the robot's"super brain".During the surgery,under the guidance of the robotic arm,a hole was drilled from the clavicle to the coracoid process,and one end of the loop steel plate was pushed into the coracoid process to tighten the tail line,achieving the goal of resetting the acromioclavicular joint.Results The operations were successfully completed in all the 17 patients,with an operation time of 15-42 min(mean,27.9 min)and intraoperative blood loss of 5-25 ml(mean,10.4 ml).Postoperative DR showed that the acromioclavicular joint had been reduced.All incisions healed in one stage without any vascular or nerve related complications.On the second day after surgery,CT evaluation showed that the accuracy of clavicle drilling position was excellent in 12 cases and good in 5 cases and accuracy of coracoid process drilling was excellent in 9 cases,good in 7 cases,and poor in 1 case.All the 17 patients were followed up for 6-12 months,with an average of 10.4 months.On the second day and six months after surgery,there were no significant differences in the distance between the surface cortex below the acromion and the surface cortex below the distal clavicle on the affected and healthy side[0.15(0.00,0.50)mm vs.-0.40(0.70,0.70)mm,Z=-1.553,P=0.120;0.15(0.00,0.50)mm vs.0.20(-0.25,0.85)mm,Z=-0.466,P=0.641].At six months after surgery,the distance between the surface cortex below the acromion and the surface cortex below the distal clavicle on the affected side was significantly higher than on the second day[0.20(-0.25,0.85)mm vs.-0.40(0.70,0.70)mm,Z=-3.426,P=0.001].On the second day after surgery,the Visual Analogue Scale(VAS)score was 3.0(3.0,4.0)points,significantly lower than the preoperative score of 4.0(3.5,5.5)points(Z=-2.716,P=0.007).On the sixth month,the VAS score was1.0(0.0,1.5)points,significantly lower than the preoperative score(Z=-3.649,P=0.000)and on the second day after surgery(Z=-3.672,P=0.000).At the last follow-up,the Constant Murley score for shoulder joint function ranged 91-100 points,with an average of 94.3 points,all of which were excellent.The American Shoulder and Elbow Surgeons(ASES)score ranged 87-100 points,with an average of 96.7 points,the excellent and good rate being 100%(15 cases were excellent and 2 cases were good).Conclusion The use of robot assisted TightRope buckle loop steel plate internal fixation technology for the treatment of acute Rockwood type Ⅱ and Ⅲ acromioclavicular dislocation has good therapeutic effects.