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*

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

Diabetes mellitus(DM)is a systemic endocrine disease associated with a disorder or defi-ciency of glucose metabolism caused by the obstruction or lack of insulin resistance.Conventional drugs for the treatment of DM have limited efficacy for its complications,and there are many drugs side effects,so it is urgent to find innovative and efficient treatment methods.Mesenchymal stem cells(MSCs)have multiple dif-ferentiation potentials,can reduce insulin resistance,promote microvascular repair,improve oxidative stress and inhibit fibrosis,and can also regulate the immune microenvironment in the body.They can also be trans-ferred to the spleen to regulate the immune microenvironment in vivo and transplant healthy mitochondria to restore the function of damaged cells,among other properties,which hold great promise for the treatment of DM complications.This article briefly reviews the current treatment and pathophysiological mechanisms of MSCs on various complications caused by DM,which is expected to provide a reference and theoretical basis for the clinical treatment of DM in the future.

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 evaluate the feasibility and technical advantages of modified laparoscopic ileal-neobladder fistula repair.Methods A retrospective analysis was conducted on the clinical data of 4 patients who underwent radical cystectomy+orthotopic neobladder surgery and subsequently developed ileal-neobladder fistula and received modified repair surgery in our hospital during Jan.2019 and Dec.2023.Under laparoscopy,the ileum at both ends of the fistula was transected,and an end-to-end ileal anastomosis bypass was established.Results All 4 patients successfully completed the operation.Their age was 66,50,76 and 59 years,respectively.Ileal-neoblbladder fistula occurred 4,1,2 and 16 months after radical resection.The operation time was 129,98,105 and 90 minutes.The intraoperative blood loss was 50,60,70 and 50 mL.The postoperative exhaust time was 3,4,3 and 5 days.The postoperative hospital stay was 8,7,7 and 9 days,and the postoperative drainage tube indwelling time was 5,4,5 and 7 days.No obvious complications occurred after operation.During follow-up of 1 to 6 years,none recurrence or long-term stenosis of the intestinal anastomosis occurred.The symptoms of urinary tract infection improved significantly,and the bladder function remained stable.Conclusion The modified laparoscopic repair of ileal-neobladder fistula achieves minimally invasive repair by avoiding extensive adhesion separation.It has the advantages of safe operation,rapid recovery,and few complications,and is a safe option for the treatment of ileal-neobladder fistula.

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 evaluate the feasibility and technical advantages of modified laparoscopic ileal-neobladder fistula repair.Methods A retrospective analysis was conducted on the clinical data of 4 patients who underwent radical cystectomy+orthotopic neobladder surgery and subsequently developed ileal-neobladder fistula and received modified repair surgery in our hospital during Jan.2019 and Dec.2023.Under laparoscopy,the ileum at both ends of the fistula was transected,and an end-to-end ileal anastomosis bypass was established.Results All 4 patients successfully completed the operation.Their age was 66,50,76 and 59 years,respectively.Ileal-neoblbladder fistula occurred 4,1,2 and 16 months after radical resection.The operation time was 129,98,105 and 90 minutes.The intraoperative blood loss was 50,60,70 and 50 mL.The postoperative exhaust time was 3,4,3 and 5 days.The postoperative hospital stay was 8,7,7 and 9 days,and the postoperative drainage tube indwelling time was 5,4,5 and 7 days.No obvious complications occurred after operation.During follow-up of 1 to 6 years,none recurrence or long-term stenosis of the intestinal anastomosis occurred.The symptoms of urinary tract infection improved significantly,and the bladder function remained stable.Conclusion The modified laparoscopic repair of ileal-neobladder fistula achieves minimally invasive repair by avoiding extensive adhesion separation.It has the advantages of safe operation,rapid recovery,and few complications,and is a safe option for the treatment of ileal-neobladder fistula.

Hormonal receptor positive human epidermal receptor 2 negative (HR⁺/HER2^-) is the commonest molecular subtype of breast cancer (BC). Patients with HR⁺/HER2^- BC may manifest clinically a late recurrence whose BC metastasizes 10-15 years post-operatively. We report one case who presented with pulmonary mass in upper lobe of lung and Horner syndrome 16 years after BC surgery. FDG PET/CT suggested pulmonary malignancy but could not differentiate between primary or metastatic cancer when invasive biopsy was quite risky. Novel ¹⁸F-FES PET/CT facilitated the non-invasive functional diagnosis of estrogen-receptor positive (ER+) pulmonary metastasis of BC, and the patient experienced partial response (PR) after CDK4/6 inhibitor and aromatase inhibitor as endocrine therapy. This article reviews the diagnosis and treatment process of this case, to provide guidance for non-invasive global evaluation of ER status among metastatic HR⁺/HER2^- BC patients with ¹⁸F-FES PET/CT.

Phosphatase and tensin-homolog deleted on chromosome 10 (PTEN) is an important cancer suppressor gene. Its pathogenic mutation leads to PTEN hamartoma tumor syndrome (PHTS), a rare syndrome also known as Cowden syndrome, which is relevant to early-onset hereditary breast cancer (BC). In this paper, we report three patients with unilateral multicentric BC and synchronous and metachronous bilateral BC who harbored PTEN gene mutations, and summarize the clinical manifestations, pathological characteristics, diagnosis, treatment and follow-up outcomes to provide reference for management of PTEN gene mutation-related BC among the Cowden syndrome population.

Objective This study aims at establishing a teaching catalog and content for breast rare dis-eases and developing the syllabus for the breast rare disease using integrated multimodality of case-/problem-/resource-based learning(CBL+PBL+RBL).Methods By conducting bibliometrics co-occurrence analysis,we collected 6291 articles on breast rare disease published from January,1975 to June,2024.Additionally,we re-trieved the Textbook on Rare Diseases,the Catalog of Chinese Rare Disease,and Second Batch of Rare Dis-ease Catalog and then decided the teaching content.Results From 16,387 keywords,1000(6.1％)keywords were identified through co-occurrence analysis,including 50(0.3％)candidate diseases.These were classified into three categories:rare primary breast diseases,rare genetic mutation-related diseases associated with breast cancer,and rare systemic multi-system diseases involving the breast.From the candidate list,20(0.1％)rare primary breast diseases were further selected for their notable clinical teaching significance,and significant multi-systemic diseases affecting the breast,whether related to gene mutations or not.Teaching plans were draf-ted using a diversified parallel teaching approaches,taking into account the characteristics of different diseases and the focus of different teaching methods.Conclusions This study initiated the development of the teaching content for breast rare diseases and developed the teaching syllabus using the CBL+PBL+RBL integrated multi teaching model and targeting each rare breast disease for the critical point for teaching.