Open Medicine最新文献

Granular cell tumors (GCTs) are rare, benign tumors typically originating from Schwann cells, with the head and neck being the most common sites. Laryngeal GCTs, particularly those affecting the vocal cords, are exceedingly rare in adults. This report presents a 28-year-old female with a GCT of the left vocal cord extending into the subglottic region. The patient presented with progressive dysphonia, and laryngoscopy revealed a 2 cm × 1 cm mass on the left vocal cord. Microlaryngeal examination confirmed subglottic extension, and the tumor was excised using carbon dioxide (CO₂) laser. Histopathological analysis confirmed GCT with S100 positivity. Two months later, the patient developed a late complication - granuloma formation at the excision site - necessitating revision surgery. The patient was symptom-free at the 12-month follow-up. GCTs in the vocal cords with subglottic extension are rare and challenging to diagnose and treat. They are generally benign lesions and rarely undergo malignant transformation. Diagnosis is confirmed through histology, and treatment involves wide local excision, with re-excision needed for recurrence. GCTs are chemo- and radio-insensitive, making surgery the primary treatment. This case underscores the importance of accurate diagnosis and tailored treatment, highlighting the need for further research on this rare condition.

Purpose: This study aimed to assess the clinical effectiveness and safety of combining immunotherapy with chemotherapy for non-small cell lung cancer.

Methods: A comprehensive search of studies published until January 2024 was conducted. Quality assessment was performed using the NOS scale, and a meta-analysis was carried out with RevMan 5.4.1 software. Heterogeneity was assessed using the Q-test, and combined effects were calculated with fixed or random effects models. Results were visualized using forest plots, and a sensitivity analysis was performed.

Results: Out of 1,061 sources, 11 met the inclusion criteria. The meta-analysis indicated that the combination treatment significantly improved 1-year overall survival, objective response rate, and disease control rate compared to chemotherapy alone (P < 0.05), with no significant difference in adverse reactions (P > 0.05). Immune function markers CD4+ and CD4+/CD8+ were higher, and CD8+ was lower in the combined treatment group. Sensitivity analysis confirmed the stability and reliability of the results (OR (95% CI) 3.72 (2.34-5.90), P < 0.00001), although publication bias was indicated by funnel plots.

Conclusion: The combination of chemotherapy and immunotherapy exhibits the potential to enhance both survival rates and clinical effectiveness, without the concomitant rise in severe adverse reactions.

Background: Uterine fibroids (UF) affect up to 70-80% of women by age 50 and are associated with heavy menstrual bleedings, pelvic discomfort, and reduced quality of life. Uterine artery embolization (UAE) is a minimally invasive procedure that aims to reduce fibroid-related symptoms and improve patients' quality of life.

Materials and methods: A prospective single-center study was conducted on 40 women who underwent UAE between November 2018 and June 2023. Primary outcomes were evaluated using the Uterine Fibroid Symptom and Quality-of-Life (UFS-QoL) questionnaire to assess symptom severity and health-related quality-of-life scores. Secondary outcomes include pain intensity, complications, requirement of additional treatments, and duration of symptoms after discharge.

Results: Thirty-three patients completed the follow-up UFS-QoL questionnaire. The mean age and the mean follow-up time were 47 years (SD 14 years) and 10 months (SD 4 months), respectively. Substantial improvements were observed within all domains of the UFS-QoL questionnaire (p < 0.001), particularly in symptom severity, where 94% of patients experienced a benefit. All Health Related Quality-of-Life (HRQL) domains statistically significantly improved (73-91%; p < 0.001). 67% of patients did not require further treatments. Pelvic pain, according to VAS, improved by 2.1 (0 = much better; 5 = no change; 10 = worse). Post-procedural complications were minor, 70% of patients reported symptoms persisted up to 5 days after discharge, and 88% resolved within 2 weeks. Despite a 45.5% rate of minor complications, including pain and transitory bleeding, 88% of patients would recommend UAE, underlining its safety and effectiveness.

Discussion and conclusion: UAE offers substantial benefits for symptomatic fibroids, significantly improving HRQoL, symptom severity and pelvic pain scores, making it a valuable alternative to surgery. Complications were minor and short-lived, and the majority of patients were satisfied with the results, with no need for additional treatments. Further research is warranted to generate peri-procedural pain management consensus guidelines, clinical outcomes of radial access, and fertility-related outcomes.

Background: Behçet's disease, first described by Hippocrates and later recognized in modern medicine after Hulusi Behçet's description in 1937, is a complex vasculitis often referred to as the "Silk Road" disease. It is more prevalent in the Middle East and Mediterranean regions, primarily affecting males aged 25-35.

Case presentation: This study first describes the clinical presentation, timeline, diagnostic evaluation, and therapeutic interventions of one patient. Subsequently, the challenges in diagnosing the disease and selecting treatment strategies are discussed in detail. Finally, the clinical outcomes and treatment effects during the follow-up period are reported.

Conclusion: This case underscores the necessity of comprehensive diagnosis and integrated treatment for diseases with complex multisystem symptoms. Multidisciplinary collaboration plays a crucial role in the management of such conditions.

Background: Sarcoidosis is characterized by the proliferation of noncaseating granulomas and presents as a complex chronic inflammatory disease. Autophagy plays a crucial role in the initiation, progression, and treatment resistance of various cancers. Despite the recognized importance of autophagy, the involvement of autophagy-related genes (ARGs) in the pathophysiology of ocular sarcoidosis (OS) remains largely unexplored.

Methods: We intersected differentially expressed genes with a curated list of 177 ARGs to identify candidates potentially involved in OS. Advanced methodologies, including GSEA and GSVA, were employed to explore the biological functions. Further refinement using Lasso regression and SVM-RFE allowed for the identification of key hub genes and the assessment of their diagnostic potential for OS.

Results: Our investigation identified 11 ARGs (DRAM1, SOGA1, ATG16L2, FYCO1, ATG7, ATG12, ATG14, KIAA0226, KIAA1324, KIAA1324L, and KIAA0226L) closely associated with OS. Functional analyses revealed their involvement in processes such as extracellular stimulus, response to nutrient levels, and positive regulation of catabolic process. Importantly, the diagnostic capabilities of these ARGs demonstrated significant efficacy in distinguishing OS from unaffected states.

Conclusions: Through rigorous bioinformatics analyses, this study identifies 11 ARGs as novel biomarker candidates for OS, elucidating their potential roles in the disease's pathogenesis.

Aim: To discover the predictive indicators of the risk of interstitial lung disease (ILD) after treatment of malignant tumors from myositis-specific autoantibodies (MSA) and myositis-associated autoantibodies (MAA) and explore possible predictive value and significance.

Methods: A total of 73 patients hospitalized in the Shulan (Hangzhou) Hospital from January 2020 to March 2021 were screened retrospectively, they all completed the MSA and MAA, and the imaging was consistent with changes in ILD. We analyzed the characteristics of MSA and MAA in tumor patients and non-tumor patients, and the characteristics of MSA and MAA positive in patients with ILD after treatment.

Results: A total of 58 patients with ILD were diagnosed, 19 patients (32.76%) with malignant tumors, 16 patients with positive MSA or MAA (84.21%), of which 10 (50%) patients had anti-RO-52 antibodies. After treatment, 12 cases (46.15%) developed ILD and 10 cases (90.91%) had a positive spectrum of specific inflammatory diseases.

Conclusion: The MSA and MAA may have a predictive effect on people who are prone to ILD during the treatment of malignant tumors, and the anti-RO-52 antibody may be an important predictive antibody index.

Disruption of cerebrospinal fluid (CSF) metabolites affects brain function and cognition, potentially altering the brain structure. To elucidate the causal relationships between CSF metabolites and the neurological outcomes, we conducted a two-sample Mendelian randomization analysis. Genome-wide association data from 689 individuals of European descent provided exposure levels for metabolites, analyzed alongside gene associations for cognitive performance (N  =  257,841), brain atrophy measures (cortical surface area and thickness; N  =  51,665), and hippocampal volume (N  =  33,536). Our analysis identified 30 metabolites exhibiting causal associations with brain atrophy and cognitive function: 20 linked to cognition and 10 to structural atrophy. Notably, butyrate correlated strongest with the cortical surface area, bilirubin with the cortical thickness, methionine sulfoxide with the hippocampal volume, threonate with cognitive performance, while oxidized Cys-gly, N6-succinyladenosine, and N-acetylglucosamine were linked to fluid intelligence, prospective memory, and reaction time, respectively. Pathway analyses revealed that butanoate and niacinamide/niacin ester metabolism are significantly associated with brain atrophy and cognitive performance. These findings position CSF metabolites as promising therapeutic targets for neurodegenerative diseases, providing a causal framework to prioritize interventions. Experimental studies building on this genetic evidence hold potential to accelerate the development of mechanism-driven therapies targeting metabolic pathways in neurodegeneration.

We aimed to explore the regulatory effects of methyltransferase-like 3 (METTL3) on diabetic retinopathy (DR) by regulating the m6A modification of SOX2 mRNA and elucidating the underlying molecular mechanism. The DR model was established by stimulating human retinal endothelial cells (HRECs) with high glucose (HG). METTL3, insulin-like growth factor 2 binding protein 2 (IGF2BP2), and SOX2 levels in the sera of patients with DR and HRECs were determined using qRT-PCR and western blotting. Moreover, the interactions between SOX2 and METTL3 or IGF2BP2 were confirmed using RNA-binding protein immunoprecipitation (RIP) experiments. Furthermore, HRECs proliferation and apoptosis were determined using 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) and flow cytometry, respectively. The protein level of cleaved-caspase3 and caspase3 in HRECs were evaluated using western blotting. The results indicated that the expression of METTL3, IGF2BP2, and SOX2 was notably decreased in the serum of patients with DR, as well as in HRECs under HGs. RIP further verified the relationship between METTL3 and SOX2 mRNA expression. HG treatment inhibited HREC viability, increased apoptosis, and enhanced cleaved-caspase3 expression and cleaved-caspase3/caspase3 ratio. Upregulation of METTL3 significantly restored the effects of HG, whereas SOX2 knockdown partially reversed the regulatory effects of METTL3 on HRECs. In summary, METTL3 blocks the progression of DR by regulating m6A modification on SOX2 mRNA.

Study objective: The main objective of this study was to investigate the association between CD4+ and CD8+ lymphocyte values and disease severity, need for oxygen therapy and disease outcomes.

Design: The research was designed as a cross-sectional observational study.

Setting: This study was conducted at the Clinic for Infectious Diseases, University Clinical Center Kragujevac, as a COVID-19 treatment center.

Participants: The study group consisted of a total of 101 adult hospitalized patients with confirmed COVID-19 infection, excluding patients under 18 years of age, patients with malignant diseases, tuberculosis, hepatitis, immune disorders, pregnant women, or HIV-positive patients. SARS-CoV2 infection was diagnosed by rapid antigen tests or real-time reverse transcription polymerase chain reaction from a nasal swab.

Interventions: The patients were classified into two groups based on oxygen therapy needs, disease severity, and disease outcomes.

Results and conclusions: Low CD4+ and CD8+ T cell values were associated with severe clinical presentation, more need for oxygen therapy as well as poor disease outcome. Receiver operating characteristic analysis provided cutoff values to support predicting the aforementioned variables, establishing CD4+ and CD8+ values as significant prognostic biomarkers. Future studies should be aimed at identifying factors that lead to gender differences in the immune response.

Background: Nonalcoholic fatty liver disease (NAFLD) is characterized by excessive hepatic fat accumulation and is closely associated with obesity, diabetes, and hyperlipidemia.

Objectives: This study explores the effects of pachymaran on NAFLD induced by a high-fat diet (HFD) in a murine model.

Methods: Thirty male C57BL/6 mice were allocated into five groups: normal diet (ND), NAFLD, and high-, medium-, and low-dose pachymaran (200, 100, and 50 mg/kg, respectively). All groups except the ND were fed a HFD to induce NAFLD. The pachymaran groups received daily intragastric pachymaran for eight weeks. Post-treatment, liver weight were recorded, serum indices assessed, and hepatic pathology evaluated via histological and Oil Red O staining. Adenylate-activated protein kinase (AMPK) gene expression was analyzed through western blotting.

Results: The body weight and liver gain (87.8 and 23.0%) in the high-dose pachymaran group were significantly less than those (154.2 and 82.0%) in the NAFLD group (P < 0.05). Fat content and serum indices improvements correlated with increased pachymaran doses. Histological analyses indicated significant alleviation of hepatocyte hypertrophy and ballooning steatosis in treated groups. Oil Red O staining confirmed a substantial decrease in hepatic lipid droplets, and western blot results indicated a significant increase in AMPK phosphorylation following treatment (P < 0.05).

Conclusions: Pachymaran effectively mitigated fat accumulation, hepatocyte degeneration, and injury in mice with diet-induced NAFLD, likely through modulation of the AMPK pathway.