中南大学学报(医学版)最新文献

Cushing syndrome (CS) is an endocrine-metabolic disorder characterized by hypercortisolism. Elevated cortisol levels can induce a hypercoagulable state, increasing the risk of venous thromboembolism (VTE). Both pituitary-origin Cushing disease (CD) and adrenal-origin non-adrenocorticotropic hormone (ACTH)-dependent CS are primarily treated with surgery. The dual impact of surgery and the underlying disease further elevates the risk of VTE, potentially leading to pulmonary embolism, which poses a severe threat to patient survival. Additionally, CS patients in a hypercoagulable state have a higher incidence of cardiovascular diseases and VTE, and even mortality compared with the general population. Untreated active CS patients have a 17.8-fold increased risk of VTE compared to the general population. In recent years, the relationship between the hypercoagulable state in CS and VTE has garnered increasing attention from clinicians. A better understanding of the clinical epidemiological characteristics, pathophysiological mechanisms, and clinical prevention and treatment of VTE and pulmonary embolism in CS can provide valuable references for the standardized use of prophylactic anticoagulant therapy in CS patients.

Objectives: The incidence of occupational burnout among emergency department healthcare workers is high, and their occupational health deserves attention. Establishing a comprehensive occupational health system in medical institutions is crucial. This study aims to understand the current status of occupational burnout among emergency department healthcare workers, analyze its influencing factors, and provide references for preventing burnout in this population.

Methods: A cross-sectional survey was conducted using convenience sampling through the Questionnaire Star platform from December 2022 to January 2023 among emergency department healthcare workers. The Maslach Burnout Inventory-General Survey (MBI-GS) scale was used to assess the level of occupational burnout, and univariate analysis and binary Logistic regression analysis were employed to explore the influencing factors of burnout.

Results: A total of 1 173 valid questionnaires were collected, with 946 (80.65%) respondents experiencing occupational burnout. The proportions of mild-to-moderate and severe burnout were 73.57% and 7.08%, respectively. The scores for the three dimensions of burnout among emergency department healthcare workers were as follows: emotional exhaustion (EE) 2.33±0.31; depersonalization (DP) 1.88±0.28; low personal accomplishment (LPA) 3.20±0.39. The overall score was 2.46±0.22. Factors associated with occupational burnout included being an only child (OR=1.362, 95% CI -0.707 to -0.058), the average number of night shifts per month (OR=1.167, 95% CI 0.091 to 0.272), and personal experience of workplace violence (OR=1.094, 95% CI 0.027 to 0.195) (all P<0.05).

Conclusions: The incidence of occupational burnout is high among emergency department healthcare workers. Effective measures should be taken by management to promptly intervene, reduce burnout, and ensure the smooth functioning of emergency medical services.

In recent years, growth hormone and insulin-like growth factors have become key regulators of bone metabolism and remodeling, crucial for maintaining healthy bone mass throughout life. Studies have shown that adult growth hormone deficiency leads to alterations in bone remodeling, significantly affecting bone microarchitecture and increasing fracture risk. Although recombinant human growth hormone replacement therapy can mitigate these adverse effects, improving bone density, and reduce fracture risk, its effectiveness in treating osteoporosis, especially in adults with established growth hormone deficiency, seems limited. Bisphosphonates inhibit bone resorption by targeting farnesyl pyrophosphate synthase in osteoclasts, and clinical trials have confirmed their efficacy in improving osteoporosis. Therefore, for adult growth hormone deficiency patients with osteoporosis, the use of bisphosphonates alongside growth hormone replacement therapy is recommended.

Objectives: There is a lack of scientifically validated tools to measure the knowledge attitude and practice (KAP) of informal caregivers for patients with pressure injury (PI). This study aims to develop a KAP Scale for Informal Caregivers of PI Patients and to evaluate its reliability and validity.

Methods: Based on the KAP theory framework and relevant literature, an initial pool of items was created through expert brainstorming sessions. The initial scale was formed after a Delphi expert consultation and a preliminary survey. From April to October 2023, a convenient sample of informal caregivers for PI patients was recruited from an inpatient department of the Third Xiangya Hospital of Central South University, as well as its associated community and nursing homes. The first round included 186 participants, and the second round included 213 participants, who were used for item analysis and reliability and validity testing. After a 3-week interval, 20 participants from the initial group were randomly selected for a retest to assess the test-retest reliability of the scale.

Results: The KAP Scale for informal caregivers of PI patients consists of 3 dimensions with 19 items. The overall internal consistency (Cronbach's α) of the scale was 0.916. The item-level content validity index (I-CVI) ranged from 0.826 to 1.000, and the scale level-content validity index/average (S-CVI/Ave) was 0.94. Exploratory factor analysis extracted 3 common factors, accounting for 64.643% of the total variance. Confirmatory factor analysis showed that the model fit the data well, with χ²/df=2.54, root mean square error of approximation (RMSEA)=0.085, comparative fit index (CFI)=0.920, and standardized root mean square residual (SRMR)=0.059.

Conclusions: The KAP scale for informal caregivers of PI patients demonstrates good reliability and validity and can be used to assess the KAP levels of informal caregivers regarding PI.

Primary hyperoxaluria (PH) is a rare autosomal recessive disorder, with PH type 1 (PH1) being the most common. It is primarily characterized by recurrent renal calculi, renal calcification, and can lead to acute renal failure. In infants, PH1 often results in early end-stage renal disease (ESRD) with a high mortality rate. This paper reports a case of an infant with acute renal failure in the Second Hospital of Shandong University who was diagnosed as PH1 using whole-exome sequencing, revealing a homozygous mutation in the AGXT gene (c.596-2A>G), which is reported here for the first time in the Chinese population. Previous literature indicates that urinary oxalate levels and stone composition can suggest PH1, with the gold standard for diagnosis being liver biopsy combined with alanine-glyoxylate aminotransferase (AGT) enzyme activity assessment. However, due to its convenience, AGXT gene sequencing has increasingly become the preferred diagnostic method. Conservative treatments for PH1 include adequate fluid intake, citrate, vitamin B6, and continuous renal replacement therapy, while liver transplantation is the only curative treatment. Infants with unexplained acute renal failure should be evaluated for PH1, with early detection of the level of urine oxalate and screening for genetic testing recommended.

Objectives: Methamphetamine (METH) is an illicit psychoactive substance that can damage various organs, with the urinary system being one of its significant targets. This study aims to explore the role of microtubule affinity-regulating kinase 4 (MARK4) in METH-induced acute kidney injury (AKI).

Methods: A total of 10 healthy adult male C57BL/6 mice were randomly divided into a control group and a METH group, 5 mice in each group. The METH group was administered METH (20 mg/kg, intraperitoneally, once daily for 3 consecutive days), while the control group received an equal volume of physiological saline. The mice were executed 24 hours after the final injection, and the success of the AKI model was detected by blood serum creatinine, blood urea nitrogen, and renal HE staining. Proteins differentially expressed between kidney tissues with METH-induced AKI and normal kidney tissues were screened by proteomics techniques and subjected to gene ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) and bioinformatics analysis. The accuracy of proteomic data was validated using Western blotting, and the expression levels of MARK4 and cleaved caspase-3 in mouse kidneys were measured. We further explored the role of MARK4 in METH-induced AKI. Firstly, a METH toxicity model was established in BUMPT cells to screen the appropriate concentration and time of METH treatment; the viability of BUMPT cells after METH treatment and the expression of cleaved caspase-3 were detected by interfering with MARK4 expression through inhibitors.

Results: The proteomic analysis of kidney tissues from METH and control groups screened for a total of 17 differentially expressed proteins, of which 11 were up-regulated and 6 were down-regulated (all P<0.05). The expression levels of MARK4 and cleaved caspase-3 were elevated in the kidneys of METH-treated mice (both P<0.05). The activity of BUMPT cells gradually decreased with increasing METH treatment concentration (all P<0.05), where the viability of BUMPT cells decreased to about 60% after METH treatment at 4 mmol/L. Compared with the control group, expression levels of MARK4 and cleaved caspase-3 were increased with higher METH concentrations and longer exposure times in a concentration- and time-dependent manner (all P<0.05). Inhibition of MARK4 expression improved METH-induced decrease in BUMPT cell activity, down-regulated the expression of cleaved caspase-3, and decreased the apoptosis of BUMPT cells induced by METH.

Conclusions: MARK4 is highly expressed in a mouse model of METH-induced AKI, and MARK4 mediates METH-induced AKI by regulating cell apoptosis.

Objectives: Retinal vein occlusion (RVO) is the second most common retinal vascular disease worldwide, and the retinal perfusion status is closely related to the prognosis of the disease. Macular perfusion status is particularly correlated with visual acuity. This study aims to investigate the changes in macular perfusion indicators in RVO using optical coherence tomography angiography (OCTA) and analyze the correlation between macular perfusion status and visual acuity.

Methods: This cross-sectional study included 41 RVO patients, who were divided into 2 groups based on the occlusion site: 18 cases in the central retinal vein occlusion (CRVO) group and 23 cases in the branch retinal vein occlusion (BRVO) group. Additionally, they were categorized into ischemic RVO (23 cases) and non-ischemic RVO (16 cases) groups based on the presence of ischemia (2 eyes were excluded due to hemorrhage obscuring the peripheral retina, making it impossible to confirm the area of non-perfusion). A control group of 29 healthy individuals matched by sex and age was also recruited. Macular perfusion indicators were measured using OCTA, and the correlation between macular perfusion status and visual acuity was analyzed.

Results: Compared with healthy eyes, RVO eyes showed an increased foveal avascular zone (FAZ) area and significantly reduced superficial and deep vessel density (P<0.001). However, there were no significant differences in central foveal thickness (CFT) or macular perfusion indicators between the CRVO and BRVO groups (P>0.05). The best corrected visual acuity (BCVA) at the logarithm of the minimum angle of resolution (logMAR BCVA) was significantly negatively correlated with both superficial and deep retinal vessel density in RVO eyes (unstandardized coefficient B=-0.039, B=-0.042; P=0.017, P=0.040). The average BCVA in the ischemic RVO group was significantly worse than that in the non-ischemic RVO group (0.82±0.44 vs 0.45±0.29, P=0.007). The ischemic RVO group also had a larger FAZ area (P=0.003) and lower superficial and deep retinal vessel density (P<0.001, P=0.008, respectively) compared with the non-ischemic RVO group. The severity of macular ischemia did not correspond directly with the peripheral ischemia severity in RVO.

Conclusions: Macular perfusion status is significantly reduced in RVO eyes compared to healthy eyes, which negatively impacts and limits visual acuity in RVO patients. Eyes with ischemic RVO have poorer visual acuity and macular perfusion status than those with non-ischemic RVO. OCTA is advantageous for observing vascular morphology and quantifying macular perfusion status, making it an effective tool for assessing disease progression.

Intraspinal air is a rare complication of intraspinal anesthesia. Reported cases of intraspinal or intracranial air are mostly associated with the air insufflation resistance test, while those associated with the normal saline resistance test are rare. This article presents a case of intracranial air following intraspinal anesthesia performed using the normal saline resistance method. The patient was a 38-year-old female who underwent elective intraspinal anesthesia for 1 week without obvious cause of perianal swelling and pain. The procedure included incision and drainage of perianal abscess, excision of anal fistula with internal thread insertion, mixed hemorrhoid exfoliation and internal ligation, and electrocautery of anal papilloma. On the second postoperative day, she experienced headaches, dizziness, severe neck and back pain, along with numbness in the arms and inability to touch or move them. Resting in a supine position did not alleviate the symptoms. Head CT revealed scattered multiple air collections in the cranial cavity, with a total volume of approximately 3 mL. After a multidisciplinary consultation, symptomatic supportive treatment including bed rest, fluid supplementation, oxygen therapy, and anti-inflammatory and analgesic treatment was administered, leading to improvement and discharge. Follow-up at 6 months showed no discomfort. Currently, intracranial air is mostly associated with the air insufflation resistance test, while cases following the normal saline resistance method are rare, with unclear pathophysiological mechanisms, diagnosis, treatment, and prevention, necessitating further research.

This report describes a case of maturity-onset diabetes of the young (MODY) type 3 (MODY3) complicated with type 5 (MODY5), including the patient's clinical features, diagnosis, and treatment, and reviews relevant literature. Using next-generation sequencing of MODY (types 1-14) gene exons and Sanger sequencing for verification, the patient and her mother were assessed. Based on the clinical phenotype and genetic test results, the patient was diagnosed as MODY3 combined with MODY5. Treatment included insulin and linagliptin, with monitoring of blood glucose changes. Clinicians should enhance their understanding of MODY clinical phenotypes. In adolescents with diabetes who have congenital pancreatic and renal developmental defects, elevated high-density lipoprotein cholesterol, no spontaneous ketosis, insulin secretion defects, negative pancreatic autoantibodies, no significant insulin resistance, and who are not obese, gene testing should be conducted to screen for MODY. Accurate diagnosis and personalized treatment can aid in achieving glycemic control, improving quality of life, and optimizing reproductive planning.