Search Results (5,408)

Background: Uterine fibroids are benign monoclonal neoplasms of the myometrium, representing the most common female pelvic neoplasms globally. Treatments may be invasive, such as hysterectomy and myomectomy, non-invasive, such as medical therapy or focused ultrasound, or minimally invasive, such as transcervical radiofrequency ablation (TFA). To date, more than 12,000 women have been treated worldwide using TFA with the Sonata^® System. Case Presentation: We present the first case report of TFA on a presumptive fibroid that was initially reclassified as a STUMP (smooth muscle tumor of uncertain malignant potential) and, after additional surgical treatment, leiomyosarcoma. Conclusion: This case highlights that, while uterine sarcoma is rare, inadvertent treatment may still result due to a lack of reliable diagnostic modalities. Nonetheless, TFA with the Sonata System represents a minimally invasive option that might not alter the prognosis of an undiagnosed uterine sarcoma as this treatment is not intraperitoneal and does not resect/morcellate tissue. Full article

Introduction and Clinical Significance: Cardiomyopathy is a significant cause of mortality in patients with Duchenne muscular dystrophy (DMD). Key prognostic factors include the age of onset of cardiomyopathy, low body mass index (BMI), and poor respiratory function. Detection of cardiac abnormalities can be challenging, which complicates timely diagnosis and treatment. Common treatments for heart failure include ACE inhibitors, beta-blockers, and mineralocorticoids. However, their effectiveness can vary, and the progression of cardiomyopathy may differ from one patient to another. Ongoing research aims to identify better therapeutic strategies and biomarkers for early intervention, ultimately improving the quality of life for patients affected by cardiomyopathy. New medications for heart failure, such as sodium/glucose co-transporter 2 inhibitors (SGLT2i) and valsartan/sacubitril (V/S), have been proposed, but their safety and efficacy in DMD patients remain unknown. Cases presentation: We present two cases that illustrate the histories of two patients who experienced different outcomes. The management of the first patient was complicated by several factors, including an early onset of cardiomyopathy, intolerance to ACE inhibitors, and untreated scoliosis, which hindered the implantation of a cardioverter defibrillator (ICD). Unfortunately, he only benefited from dapagliflozin in the later stages of his cardiomyopathy. Neurological complications further exacerbated the advanced state of his disease. In contrast, the second patient adhered to all recommended therapies, including innovative medications, and he currently has compensated heart failure. Conclusions: We concluded that several factors, beyond genetic ones, may have influenced their prognosis, including updated guidelines for cardiomyopathy treatment and the utilization of innovative medications. Full article

The intratumoral microbiome plays a significant role in many cancers, such as lung, pancreatic, and colorectal cancer. Pancreatic cancer (PC) is one of the most lethal malignancies and is often diagnosed at advanced stages. Fusobacterium nucleatum (Fn), an anaerobic Gram-negative bacterium primarily residing in the oral cavity, has garnered significant attention for its emerging role in several extra-oral human diseases and, lately, in pancreatic cancer progression and prognosis. It is now recognized as oncobacterium. Fn engages in pancreatic tumorigenesis and metastasis through multifaceted mechanisms, including immune response modulation, virulence factors, control of cell proliferation, intestinal metabolite interactions, DNA damage, and epithelial–mesenchymal transition. Additionally, compelling research suggests that Fn may exert detrimental effects on cancer treatment outcomes. This paper extends the perspective to pancreatic cancer associated with Fn. The central focus is to unravel the oncogenomic changes driven by Fn in colonization, initiation, and promotion of pancreatic cancer development. The presence of Fusobacterium species can be considered a prognostic marker of PC, and it is also correlated to chemoresistance. Furthermore, this review underscores the clinical research significance of Fn as a potential tumor biomarker and therapeutic target, offering a novel outlook on its applicability in cancer detection and prognostic assessment. It is thought that given the role of Fn in tumor formation and metastasis processes via its FadA, FapA, Fap2, and RadD, new therapies for tumor treatment targeting Fn will be developed. Full article

Lung cancer remains a major global health problem because of its high cancer-related mortality rate despite advances in therapeutic approaches. Non-small cell lung cancer (NSCLC), a major subtype of lung cancer, is more amenable to surgical intervention in its early stages. However, the prognosis for advanced NSCLC remains poor, owing to limited treatment options. This underscores the growing need for novel therapeutic strategies to complement existing treatments and improve patient outcomes. In recent years, pentacyclic triterpenoids, a group of natural compounds, have emerged as promising candidates for cancer therapy due to their anticancer properties. Pentacyclic triterpenoids, such as lupeol, betulinic acid, betulin, oleanolic acid, ursolic acid, glycyrrhetinic acid, glycyrrhizin, and asiatic acid, have demonstrated the ability to inhibit cell proliferation and angiogenesis, induce apoptosis, suppress metastasis, and modulate inflammatory and immune pathways in NSCLC cell line models. These compounds exert their effects by modulating important signaling pathways such as NF-κB, PI3K/Akt, and MAPK. Furthermore, advances in drug delivery technologies such as nanocarriers and targeted delivery systems have improved the bioavailability and therapeutic efficacy of triterpenoids. However, despite promising preclinical data, rigorous clinical trials are needed to verify their safety and efficacy. This review explores the role of triterpenoids in NSCLC and therapeutic potential in preclinical models, focusing on their molecular mechanisms of action. Full article

Canine high-grade glioma (HGG) is among the deadliest and most treatment-resistant forms of canine cancer. Successful, widespread treatment is challenged by heterogeneity in tumor cells and the tumor microenvironment and tumor evolution following treatment. Immunotherapy is theoretically a strong novel therapy, since HGG-generated immunosuppression is a substantial malignancy mechanism. Immunotherapy has improved survival times overall, but has been associated with extremely poor outcomes in French bulldogs. Given this breed-specific observation, we hypothesized that within the French bulldog breed, there are key transcriptomic differences when compared to other breeds, and that their tumors change differently in response to immunotherapy. Using bulk RNA sequencing, French bulldog tumors were confirmed to differ substantially from boxer and Boston terrier tumors, with only 15.9% overlap in significant differentially expressed genes (DEGs). In upregulated DEGs, the magnitude of changes in expression post-treatment compared to pre-treatment was markedly greater in French bulldogs. Gene set enrichment analysis confirmed that following treatment, French bulldog tumors showed enrichment of key immune-associated pathways previously correlated with poor prognosis. Overall, this study confirmed that French bulldog HGG transcriptomes differ from boxer and Boston terrier transcriptomes, further refining description of the canine glioma transcriptome and providing important information to guide novel therapy development, both for specific dog breeds and for possible correlative variants of human glioblastoma. Full article

Acute myeloid leukemia (AML) is an aggressive malignancy that poses significant challenges due to high rates of relapse and resistance to treatment, particularly in older populations. While therapeutic advances have been made, survival outcomes remain suboptimal. The evolution of DNA and RNA sequencing technologies, including whole-genome sequencing (WGS), whole-exome sequencing (WES), and RNA sequencing (RNA-Seq), has significantly enhanced our understanding of AML at the molecular level. These technologies have led to the discovery of driver mutations and transcriptomic alterations critical for improving diagnosis, prognosis, and personalized therapy development. Furthermore, single-cell RNA sequencing (scRNA-Seq) has uncovered rare subpopulations of leukemia stem cells (LSCs) contributing to disease progression and relapse. However, widespread clinical integration of these tools remains limited by costs, data complexity, and ethical challenges. This review explores recent advancements in DNA/RNA sequencing in AML and highlights both the potential and limitations of these techniques in clinical practice. Full article

Breast cancer is a cancer with global prevalence and a surge in the number of cases with each passing year. With the advancement in science and technology, significant progress has been achieved in the prevention and treatment of breast cancer to make ends meet. The scientific intradisciplinary subject of “metabolomics” examines every metabolite found in a cell, tissue, system, or organism from different sources of samples. In the case of breast cancer, little is known about the regulatory pathways that could be resolved through metabolic reprogramming. Evidence related to the significant changes taking place during the onset and prognosis of breast cancer can be obtained using metabolomics. Innovative metabolomics approaches identify metabolites that lead to the discovery of biomarkers for breast cancer therapy, diagnosis, and early detection. The use of diverse analytical methods and instruments for metabolomics includes Magnetic Resonance Spectroscopy, LC/MS, UPLC/MS, etc., which, along with their high-throughput analysis, give insights into the metabolites and the molecular pathways involved. For instance, metabolome research has led to the discovery of the glutamate-to-glutamate ratio and aerobic glycolysis as biomarkers in breast cancer. The present review comprehends the updates in metabolomic research and its processes that contribute to breast cancer prognosis and metastasis. The metabolome holds a future, and this review is an attempt to amalgamate the present relevant literature that might yield crucial insights for creating innovative therapeutic strategies aimed at addressing metastatic breast cancer. Full article

Background: Asthma (a chronic inflammatory disease of the airways) is characterized by a variable course, response to treatment, and prognosis. Its incidence has increased significantly in recent decades. Unfortunately, modern lifestyle and environmental factors contribute to the further increase in the incidence of this disease. Progressive industrialization and urbanization, widespread use of antibiotic therapy, excessive sterility and inappropriate, highly processed diets are some of the many risk factors that are relevant today. Over the years, a lot of evidence has been gathered showing the influence of microorganisms of the gut or airways on human health. Studies published in recent years indicate that dysbiosis (microbial imbalance) and oxidative stress (pro-oxidant–antioxidant imbalance) are important elements of the pathogenesis of this inflammatory disease. Scientists have attempted to counteract the effects of this process by using probiotics, prebiotics, and antioxidants. The use of probiotic microorganisms positively modulates the immune system by maintaining homeostasis between individual fractions of immune system cells. Moreover, recently conducted experiments have shown that probiotics have antioxidant, anti-inflammatory, and protective properties in oxidative stress (OS). The aim of this study is to present the current state of knowledge on the role of dysbiosis and OS in the pathogenesis of asthma. Conclusions: This review highlights the importance of using probiotics, prebiotics, and antioxidants as potential strategies to support the treatment and prevention of this disease. Full article

Significant developments in sensing technology have had many impacts, enhancing monitoring and assessment accuracy across diverse fields. In the field of physical therapy, sensing, which plays a pivotal role in tele-physiotherapy, rapidly expanded amid the COVID-19 pandemic. Its primary objective is to monitor biological signals and patient movements at remote locations. To further enhance the effectiveness and the scope of tele-physiotherapy, it is essential to further develop sensing and data analysis technologies. However, there are usability and analysis issues that have limited its use. The development of these technologies will not only enhance the accuracy of deep learning by AI through the acquisition of big data, but also has the potential to elucidate movement characteristics associated with movement disorders or pathological conditions. Furthermore, improving sensing technologies can broaden applications extending beyond tele-physiotherapy to impact daily life. Looking forward, it holds promise for improving our understanding of disease prognosis and progression. Full article

Accumulating evidence suggests that inherited melanoma is not rare and approx. one in seven individuals with melanoma has clinically relevant hereditable cancer-predisposing and/or -susceptibility variant(s). Concerning its germline genetic background, genetic screening aims to identify either variants of predisposing genes with high penetrance or variants of susceptibility genes with medium or low penetrance. However, less attention is paid to genetic testing of germline variants of genes influencing patients’ survival outcomes or enhancing the design of new therapies. We aimed to investigate whether the germline genetic background of a Hungarian melanoma cohort (n = 17) contains any pathogenic or likely pathogenic variants of the BRCA2, POLE, WRN, FANCI, PALB2, and RAD54B genes and if the presence of these variants correlate with the clinical findings of the patients, including the advanced stage of melanoma, poor prognosis, and poor survival. We identified three novel variants in the FANCI gene and one novel variant in the RAD54B gene. We detected rapid disease progression, unfavorable outcome, and therapeutic resistance in the patient carrying the likely pathogenic FANCI variant. Our study highlights the importance of screening germline variants of genes influencing melanoma progression, therapy resistance, and survival of patients. Full article

Background: Lung cancer (LC) patients are prone to suffer from malnutrition. Malnutrition negatively affects patients’ response to therapy, increases the incidence of treatment-related side effects, and decreases survival. Early identification of LC patients who are malnourished or at risk of malnutrition can promote recovery and improve prognosis. Objective: This study aimed to assess the risk and nutritional status of lung cancer patients who are hospitalised, as well as to evaluate the impact of nutritional intervention on the risk of malnutrition. Methods: From January 2022 to December 2023, 53 LC patients hospitalised in a pulmonology department had their nutritional risk (initial and final) and nutritional status (initial) assessed. All were selected for nutritional intervention. Nutrition counselling was the first intervention option, along with dietary changes with/without oral nutritional supplements. Results: At the time of hospitalisation, 90.6% of the patients were at nutritional risk, 45.3% were classified as moderately malnourished, and 35.8% were classified as severely underweight. After the hospitalisation, 73.6% were at nutritional risk at the time of discharge, suggesting a statistically significant decrease in the number of patients with nutritional risk. Conclusions: Most LC patients hospitalised presented an altered nutritional status. Our study suggests that a nutritional intervention must be implemented to reduce malnutrition risk, which may impact prognosis. The comprehensive nutritional problems experienced by LC patients require nutritional assessment and improved individually tailored nutritional support. Full article

Background: Small-cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare and aggressive cancer with a poor prognosis and limited treatment options. Current chemotherapy regimens are predominantly platinum-based; however, the development of platinum resistance during treatment significantly worsens patient outcomes. Everolimus, an mTOR inhibitor, has been widely used in combination cancer therapies and has successfully enhanced the efficacy of platinum-based treatments. Method: In this study, we investigated the combined effects of everolimus and cisplatin on SCCOHT through both in vitro and in vivo experiments, complemented by RNA sequencing (RNA-seq) analyses to further elucidate the therapeutic impact. Result: Our findings revealed that everolimus significantly inhibits the proliferation of SCCOHT cells, induces cell cycle arrest, and accelerates apoptosis. When combined with cisplatin, everolimus notably enhances the therapeutic efficacy without increasing the toxicity typically associated with platinum-based drugs. RNA-seq analysis uncovered alterations in the expression of apoptosis-related genes, suggesting that the underlying mechanism involves autophagy regulation. Conclusions: Despite the current challenges in treating SCCOHT and the suboptimal efficacy of platinum-based therapies, the addition of everolimus significantly suppresses tumor growth. This indicates that everolimus enhances cisplatin efficacy by disrupting survival-promoting signaling cascades and inducing cell cycle arrest. Furthermore, it points to potential biomarkers for predicting therapeutic response. Full article

Background: About half of adults with acute myeloid leukemia with normal cytogenetics (CN-AML) have NPM1 mutations. There is controversy regarding their prognosis and best therapy. Methods: We studied 150 subjects with these features using targeted regional sequencing. Prognostic stratification was carried out based on risk factors, and we assessed the effects of two post-remission strategies with and without transplant across risk cohorts. Results: In multi-variable analyses, a positive MRD test after the second consolidation cycle (HR = 6.00; 95% CI [3.31, 10.85]; p < 0.001), DNMT3A mutations (HR = 3.01 [1.57, 5.78]; p < 0.001), FLT3-ITD mutation with high variant allele frequency (HR = 4.40 [1.89, 10.24]; p < 0.001) and DDX11 mutations (HR = 4.38 [2.38, 8.04]; p < 0.001) were independently correlated with higher cumulative incidence of relapse (CIR) and worse leukemia-free survival (LFS) (HR = 5.49 [3.01, 10.04]; p < 0.001; HR = 2.99 [1.60, 5.62]; p < 0.001; HR = 4.20 [1.87, 9.40]; p < 0.001; and HR = 4.22, 95% CI [1.99, 8.95], p < 0.001). Subjects with ≥1 high-risk co-variate who received a transplant had a lower CIR and better LFS, whereas others did not. Conclusions: We identified co-variates associated with CIR and LFS in subjects of NPM1-mutated CN-AML. Full article

Background and Clinical Significance: Acute necrotizing encephalopathy (ANE) represents a severe complication, mainly described in children, of influenza virus infection. We report the cases of two young girls with ANE associated with influenza virus infection who were diagnosed by MRI cerebral scan. Case Presentation: A 7-year-old girl with a history of a previous episode of ANE presented with a worsening drowsy state and seizures. In the second case, an otherwise healthy 5-year-old girl presented with fever, seizures, and marked neurological deterioration. In both cases, nasopharyngeal swab testing was positive for influenza virus A, while cerebral MRI indicated ANE. Despite aggressive treatment with high-dose corticosteroids and a five-day course ofimmunoglobulins, the ultimate prognosis was poor in both patients. ANE is a serious complication of viral infections in children, with a high mortality rate and a broad spectrum of neurological sequelae. To date, the pathophysiology and management of influenza virus-induced ANE remain uncertain. Although ANE is usually sporadic, familial and recurrent cases have been reported, and anRAN-binding protein (RANBP2) mutation has occasionally been associated with its occurrence.Conclusions: Rapid recognition of neurological symptoms and suspicion of a viral trigger, especially in influenza-like illnesses, are both essential for the timely administration of effective therapy. Further research is needed to clarify the pathophysiology of ANE and establish the best therapeutic strategies to fight such a deadly disease. Full article

Glioblastoma (GBM) is a highly lethal type of cancer, frequently presenting an unfavorable prognosis. The current treatment options for this neoplasia are still limited, highlighting the need for further research evaluating new drugs to treat GBM or to serve as an adjuvant to improve the efficiency of currently used therapies. In this sense, the inhibition of A2A receptors in the brain has presented a neuroprotective role for several diseases, such as neurodegenerative conditions, and it has been suggested as a possible pharmacological target in some types of cancer; thus, it also can be underscored as a potential target in GBM. Recently, Istradefylline (IST) was approved by the FDA for treating Parkinson’s disease, representing a safe drug that acts through the inhibition of the A2A receptor, and it has also been suggested as an antineoplastic drug. Therefore, this work aims to explore the effects of A2A receptor inhibition as a therapy for GBM and assess the feasibility of this blockage occurring through the effects of IST. Full article