中南大学学报(医学版)最新文献

Antithyroid drugs can cause neutropenia or agranulocytosis, rarely pancytopenia in hyperthyroidism therapy. The treatment is difficult and lethality is high when granulocytopenia or pancytopenia combined with hyperthyroidism crisis. First Affiliated Hospital of Army Medical University treated a patient who had pancytopenia caused by methimazole with systemic lupus erythematosus, secondary hyperthyroidism crisis and agranulocytosis.We gave the reasonable treatment in time, such as anti-infection, stimulating granulocyopoiesis, compound iodine solution to control thyroid function, controlled the disease effectively and saved the patient's life. Early detection and identification of possible causes of pancytopenia and dynamic adjustment of treatment plan show great significance for patients with hyperthyroidism and severe pancytopenia.

IgG4-related disease (IgG4-RD) is an immune-mediated fibroinflammatory disorder that can affect multiple organs throughout the body, predominantly in middle-aged and elderly males, with a male-to-female ratio of 2꞉1 to 3꞉1. IgG4-related retroperitoneal fibrosis (IgG4-RPF), a rare subtype of IgG4-RD, has an unclear etiology, and its comorbidity with type 2 diabetes mellitus is also uncommon. A lack of awareness of this condition in clinical practice can easily lead to misdiagnosis. On July 14, 2016, the Third Xiangya Hospital of Central South University admitted a patient with type 2 diabetes mellitus complicated by IgG4-RPF. Following comprehensive treatment, including blood glucose and blood pressure control, kidney protection, circulation improvement, and the use of prednisone, the patient's condition significantly improved. The retroperitoneal fibrotic mass decreased in size, renal function improved, and serum IgG4 levels decreased. After 8 years of follow-up, the condition did not recur. Analyzing this case in conjunction with a literature review suggests that the development of IgG4-RPF in diabetic patients may be related to chronic inflammation from metabolic syndrome and atherosclerotic plaques associated with long-standing diabetes. This provides valuable clinical ideas for clinicians in diagnosing and treating this rare comorbidity.

Pain is a signal of inflammation that can have both protective and pathogenic effects. Macrophages, significant components of the immune system, play crucial roles in the occurrence and development of pain, particularly in neuroimmune communication. Macrophages exhibit plasticity and heterogeneity, adopting either pro-inflammatory M1 or anti-inflammatory M2 phenotypes depending on their functional orientation. Recent research highlights the contribution of macrophages to pain dynamics by undergoing changes in their functional polarity, leading to macrophage activation, tissue infiltration, and cytokine secretion. M1 macrophages release pro-inflammatory mediators that are not only essential in defending against infections, but also contributing to tissue damage and the elicitation of pain. However, this process can be counteracted by M2 macrophages, facilitating pain relief through producing anti-inflammatory cytokines and opioid peptides or enhancing efferocytosis. M1 and M2 macrophages play important roles in both the initiation and mitigation of pain.

The genomic fusions of the anaplastic lymphoma kinase (ALK) gene have been widely recognized as effective therapeutic targets for non-small cell lung carcinoma (NSCLC). The Second Xiangya Hospital of Central South University has treated 2 NSCLC patients with 2 distinct novel ALK gene fusions. Case 1 was a 55-year-old male with a solid nodule located in the right hilar lobe on enhanced CT scan. Case 2 was a 47-year-old female with enhanced CT showing involvement of the left upper lobe of lung. Histopathological examination of tumor tissues confirmed lung adenocarcinoma in both cases. Immunohistochemical (IHC) staining demonstrated positivity for thyroid transcription factor-1 (TTF-1) and ALK-D5F3 in tumor cells, while negativity for P40. The next-generation sequencing (NGS) tests identified a PNPT1-ALK (Exon22:Exon20) fusion variant in case 1 and a TCEAL2-ALK (Exon3:Exon19) fusion variant in case 2. The TCEAL2-ALK fusion was further confirmed by amplification refractory mutation system (ARMS)-PCR at the mRNA level. Both patients were treated with oral alectinib at a dosage of 600 mg twice daily. The tumors in both patients were significantly decreased after alectinib treatment, achieving partial response. At the time of submission, there was an absence of disease progression and the progression-free survival (PFS) had surpassed 1 year. It offered compelling evidences that the individuals with NSCLC and harboring either a PNPT1-ALK (Exon22:Exon20) fusion or a TCEAL2-ALK (Exon3:Exon19) fusion, experience favorable therapeutic outcomes through the administration of alectinib. This study expands the known ALK fusion variants database and supports the precision treatment of NSCLC using ALK tyrosine kinase inhibitors (TKIs).

Objectives: Adenosine deaminase (ADA) is a critical enzyme in the catabolism of adenosine acid during purine metabolism and plays a significant role in the diagnosis and monitoring of various diseases. This study aims to investigate the relationship between serum ADA levels and risk of diabetic foot ulcers (DFU) in patients with type 2 diabetes mellitus (T2DM), providing a clinical basis for the prevention and treatment of DFU.

Methods: A retrospective study was conducted on 2 719 T2DM patients diagnosed at the Southwest Hospital of Army Medical University from January 2019 to January 2020. Patients were divided into a non-DFU group (n=1 952) and a DFU group (n=767) based on the presence of DFU. Serum ADA levels were collected, and participants were divided into quartiles: Q1, Q2, Q3, and Q4. Spearman correlation analysis and multivariate logistic regression were used to assess the relationship between serum ADA levels and DFU risk in T2DM patients. Additionally, changes in serum ADA levels among DFU patients with different Wagner grades were compared.

Results: The prevalence of DFU in T2DM patients was 28.21%, and the prevalence increased with higher serum ADA levels. Multivariate-adjusted logistic regression analysis showed that for every 1-unit increase in serum ADA, the risk of DFU increased by 3% (OR=1.03, 95% CI 1.01 to 1.05, P=0.003). Compared with the Q1 group, the risk of DFU increased in the Q2 (OR=1.77, 95% CI 1.30 to 2.43, P<0.001), Q3 (OR=2.11, 95% CI 1.54 to 2.89, P<0.001), and Q4 (OR=2.27, 95% CI 1.64 to 3.16, P<0.001) groups. Additionally, serum ADA levels increased with higher Wagner grades from 0 to 5 (P<0.001).

Conclusions: Elevated serum ADA levels in T2DM patients are associated with an increased risk of DFU, suggesting that serum ADA may play an important role in the development of DFU in T2DM patients.

Triple-negative breast cancer (TNBC) is a highly aggressive breast cancer subtype with poor prognosis. RNA alternative splicing dysregulation plays a critical role in the initiation and progression of TNBC. This article systematically introduces the basic process of RNA splicing and then focuses on reviewing the aberrant alternative splicing events and their biological effects in TNBC: 1) Multiple splicing-related factors promote tumor cell proliferation and mediate chemotherapy resistance by regulating the alternative splicing of genes involved in cell survival and drug response; 2) dysregulation of splicing regulatory networks leads to altered splicing of multiple metastasis-related genes, promoting tumor invasion and metastasis; 3) aberrant alternative splicing events participate in tumor progression by affecting the expression of DNA damage repair genes; 4) dysregulation of alternative splicing is also involved in the regulation of tumor immune evasion and stem cell properties. A deeper understanding of the mechanisms underlying RNA alternative splicing dysregulation in TNBC is essential for elucidating its molecular pathology, identifying novel prognostic markers, and developing therapeutic strategies.

Immune checkpoint inhibitors (ICPis) significantly improves survival in a number of cancer patients by blocking immunosuppressive molecules and reactivating the function of effector T cells to specifically kil tumor cells. This article reports a case of secondary hypoadrenocorticism caused by programmed death 1 (PD-1) inhibitor related hypophysitis. A 65-year-old male patient received immunotherapy for right lung squamous cell carcinoma invading the chest wall (cT4N2M0) for 4 times. Two weeks after the last immunotherapy treatment, the patient experienced poor appetite and fatigue. Examination results indicated severe hyponatremia, and there was no improvement even after repeated supplementation with high-concentration sodium chloride. After further examination, glucocorticoid supplementation was given to the patient and his clinical symptoms were significantly improved. It is recommended that patients receiving ICPis should be asked in detail about their medical history before initiating treatment, baseline screening should be carried out reasonably, and regular follow-up about endocrine gland hormone and related biochemical indexes after treatment should be carried out. Meanwhile, it is necessary to pay attention to the related symptoms and signs of patients in order to find endocrine gland adverse reactions in time.