Search

Ewing sarcoma with renal localization is one of the rarest members of the Ewing sarcoma family with less than 200 cases reported in the Medline database. Considering the fact that the majority of data published on the Ewing sarcoma with neuroectodermal differentiation is obtained through a few case reports and case series, it becomes understandable why we currently have no universally accepted treatment regimens.

Introduction: Adrenocortical carcinoma (ACC) represents a rare endocrine malignancy being the second most aggressive endocrine cancer after anaplastic thyroid cancer. [1]. While most of them arise sporadically, up to 15% of adult ACC patients are related to germline mutations associated with familial cancer syndromes.[1,2]. Current treatment strategies include surgery as well as systemic therapy with mitotane and chemotherapy.

Introduction: Pheochromocytomas are catecholamine-secreting tumors arising from the chromaffin cells of the adrenal medulla. We describe an unusual case of pheochromocytoma located in the infrarenal area and associated with bilateral adrenal hyperplasia.

Background: Glioblastomas are the most common tumors of the central nervous system. The incidence of brain tumors is higher in developed countries and is constantly increasing.

Background: Sepsis is the leading cause of morbidity and mortality in intensive care units. This study explored the possible role of vascular endothelial growth factor-C (VEGF-C) and podoplanin (PDPN) in sepsis.

Objective This study was performed to evaluate the 1-year survival rate and functional outcomes of 20 patients who underwent intersphincteric resection (ISR) for low rectal cancer. Methods Twenty patients who underwent ISR for low rectal cancer were followed up for 1 year. Complications, functional outcomes objectified by the Wexner score, and oncological outcomes were assessed. Results The short-term survival rate was 100%. The median Wexner score was ≤10 in all patients at 12 months after surgery. Signs of local recurrence were absent, and antigen levels remained within the reference ranges 1 year postoperatively. Conclusions ISR is a feasible alternative in highly selected patients who primarily refuse a colostomy bag and present with type II or III tumors. In the present study, patient-reported continence was satisfactory, and the absence of a colostomy bag increased patients’ quality of life. The oncological outcomes were satisfactory at 1 year postoperatively.

Background: We hypothesized that an ideal heart valve replacement would be acellular valve root scaffolds seeded with autologous stem cells. To test this hypothesis, we prepared porcine acellular pulmonary valves, seeded them with autologous adipose derived stem cells (ADSCs) and implanted them in sheep and compared them to acellular valves.

Congenital diaphragmatic hernia (CDH) is a relatively rare and severe developmental disease. Even with the most recent multidisciplinary therapies, the risk for neonatal mortality and morbidity remains high. Recent advancements in prenatal treatments, alongside experimental and clinical data, suggest that fetoscopic endoluminal tracheal occlusion (FETO) promotes lung development and offers a promising strategy against lung hypoplasia and pulmonary hypertension. It is the only existing direct mechanical therapy that intervenes in the regulation of pulmonary pressure. Its influence on lung development also interferes with tissue homeostasis and cell differentiation; it also enhances inflammation and apoptosis. Its physiopathology on cellular and molecular levels is still poorly understood. Unfortunately, the procedure also carries significant pregnancy-, maternal-, and fetus-related risks. Assessing a multifaceted intervention requires a collective view of all aspects. This scoping review uncovers potential materno-fetal procedure-related risks and highlights innovative solutions. Future research on lung development therapies in CDH may focus on the "dual hit" mechanism, combining molecular-targeting drugs and regenerative medicine with the mechanical nature of FETO for synergistic effects. [ABSTRACT FROM AUTHOR]

Simple Summary: Right ventricular (RV) failure is a major complication in many types of congenital heart disease (CHD) and often leads to higher illness and mortality rates among affected patients. There are currently no specific treatments for RV failure, and therapies that are effective in left heart failure are inefficient in right heart failure due to differing adaptive mechanisms. This study aimed to develop a practical model of RV failure in sheep by creating increased pressure and volume overload, mimicking what occurs in human patients with CHD. Fourteen juvenile sheep underwent one of three surgical procedures (pulmonary artery banding, pulmonary leaflet perforation, or pulmonary annulotomy with transannular patching), each performed on a beating heart under general anesthesia with advanced anesthetic monitoring. Successful acute pressure and volume overload were obtained, replicating key features of RV failure. We developed detailed protocols for the anesthetic and surgical approach, describing the intraoperative and immediate postoperative complications. All techniques demonstrated safety and feasibility, with low mortality rates and manageable complications. Our model of RV pressure and volume overload provides a structured approach for investigating this condition, which may enhance understanding and contribute to better treatment options for patients with CHD and RV failure. Right ventricular (RV) failure is a common complication in multiple congenital heart disease (CHD), significantly increasing morbidity and mortality. Despite its impact, no therapies specifically target the failing RV. The growing population of CHD patients underscores the need to understand the pathophysiology of RV failure through preclinical research. This study aimed to develop an ovine model of RV failure induced by pressure and volume overload. A total of 14 juvenile sheep randomly underwent pulmonary artery banding (n = 6), pulmonary leaflet perforation (n = 4), and pulmonary annulotomy with transannular patching (TAP) (n = 4). Detailed anesthetic and surgical protocols were described, and intraoperative and early postoperative complications were evaluated. Acute RV pressure overload resulted in a 120% increase in RV pressure (p = 0.0312). The stroke volume index and cardiac index significantly declined (p = 0.0312), and there was a significant decrease in ScvO2 (p = 0.0312). Both TAP and leaflet perforation achieved moderate-to-severe pulmonary regurgitation. Both procedures led to an incremental trend in RV pressures and resulted in a 24% increase in the stroke volume index. All techniques demonstrated safety and feasibility, with low mortality. This comprehensive model could be reproducible in other large animal models, offering a robust platform for preclinical research into CHD-RV failure models. [ABSTRACT FROM AUTHOR]

Background and Clinical Significance: Primary cardiac tumors are among the rarest types of tumor, and until the mid-20th century, they were diagnosed only post-mortem or during other surgical interventions. With the rapid evolution of cardiovascular imaging and the widespread use of echocardiography, the incidence of cardiac fibroelastoma has increased, though it remains one of the rarest primary cardiac tumors. Papillary fibroelastoma is a benign primary cardiac tumor that develops from endocardial tissue, is usually solitary, and can have multiple locations, with the pulmonary valve being one of the rarest sites. The symptoms and complications depend on the tumor's location, ranging from asymptomatic patients to cerebral ischemic embolism or pulmonary embolism. We analyzed the electronic databases PubMed, Web of Science, and Cochrane and conducted a systematic review of pulmonary valve papillary fibroelastoma (PVPF). Additionally, we included a case from the Adult and Pediatric Cardiovascular Surgery Clinic in Targu Mures. Case Presentation: We present the case of a 58-year-old patient who complained of exertional dyspnea. A transthoracic echocardiography (TTE) revealed a tumor mass attached to the pulmonary valve and coronary angiography identified severe coronary lesions. Following discussions within the Heart Team, surgical myocardial revascularization and tumor excision were decided upon due to the thromboembolic risk. Histopathological examination confirmed the diagnosis of papillary fibroelastoma. The postoperative course was uneventful, with an improvement in dyspnea. The mean age of the patients was 60 years, with half being men (n = 26, 50%). Regarding symptoms, 34% (n = 18) of cases were incidentally identified, while over 30% (n = 17) presented with dyspnea. Pulmonary embolism (PE) was reported in only two patients, and the most common associated comorbidities included high blood pressure (HBP) in 33% (n = 16) and dyslipidemia in 18%. Tumor size ranged from 0.7 cm to 3 cm with the initial benign cardiac tumor; its occurrence in the pulmonary valve remains exceedingly rare. Due to its frequent overlap with other cardiac pathologies, the clinical presentation is often a nonspecific diagnosis or suspicion of a tumor predominantly established via transthoracic echocardiography in 62% of patients. From a surgical perspective, 63% (n = 33) underwent tumor resection with valve sparing, 25% (n = 12) required pulmonary valve repair, and three patients necessitated pulmonary valve replacement. Conclusions: Although the incidence of papillary fibroelastoma is increasing, making it the most common, there is a need to highlight the indispensable role of echocardiography in diagnosis. Although papillary fibroelastoma is benign, surgical intervention is recommended, particularly in symptomatic patients, or if the tumor exceeds 1 cm in size, exhibits increased mobility, or is present alongside other cardiac surgical procedures. [ABSTRACT FROM AUTHOR]

The editorial in "Frontiers in Oncology" discusses advanced molecular targets in the diagnosis and treatment of gastrointestinal cancers, presenting 15 articles covering original research, case studies, and literature reviews. The studies highlight innovative diagnostic and therapeutic strategies, including precision medicine approaches for rare cancers like SMARCA4-deficient tumors and metastatic hepatocellular carcinoma. Additionally, research on biomarkers, imaging techniques, and socioeconomic factors aims to advance precision oncology and reduce disparities in gastrointestinal cancer care. The editorial underscores the importance of molecular insights in transforming cancer treatment towards personalized and accessible approaches. [Extracted from the article]

Esophageal carcinoma is an aggressive cancer with a poor therapeutic response and a significant risk of recurrence after radical resection. It usually metastasizes to the lung, bones, or liver. Unusual spread can be found in other organs, but only nine cases of pancreatic metastases have been reported in the Medline database. In the present paper, a literature review of nine cases with esophageal squamous cell carcinoma and pancreatic metastasis was carried out. In addition to these cases, we present our case, the tenth case in the literature. It involved a patient who underwent surgery for esophageal squamous cell carcinoma and developed metachronous pancreatic metastasis 67 months after esophagectomy. Histopathological examination confirmed a squamous cell carcinoma metastasis. Conclusions: Pancreatic metastasis of esophageal squamous cell carcinoma is extremely rare. Pancreatic metastasis may develop several years after the treatment of the primary lesion. The diagnosis of metastasis is difficult, requiring histopathological and immunohistochemical examination. [ABSTRACT FROM AUTHOR]

Both pathology and cytopathology still rely on recognizing microscopical morphologic features, and image analysis plays a crucial role, enabling the identification, categorization, and characterization of different tissue types, cell populations, and disease states within microscopic images. Historically, manual methods have been the primary approach, relying on expert knowledge and experience of pathologists to interpret microscopic tissue samples. Early image analysis methods were often constrained by computational power and the complexity of biological samples. The advent of computers and digital imaging technologies challenged the exclusivity of human eye vision and brain computational skills, transforming the diagnostic process in these fields. The increasing digitization of pathological images has led to the application of more objective and efficient computer-aided analysis techniques. Significant advancements were brought about by the integration of digital pathology, machine learning, and advanced imaging technologies. The continuous progress in machine learning and the increasing availability of digital pathology data offer exciting opportunities for the future. Furthermore, artificial intelligence has revolutionized this field, enabling predictive models that assist in diagnostic decision making. The future of pathology and cytopathology is predicted to be marked by advancements in computer-aided image analysis. The future of image analysis is promising, and the increasing availability of digital pathology data will invariably lead to enhanced diagnostic accuracy and improved prognostic predictions that shape personalized treatment strategies, ultimately leading to better patient outcomes. [ABSTRACT FROM AUTHOR]

Genetic factors play a significant role in the pathogenesis of mitral valve diseases, including mitral valve prolapse (MVP) and mitral valve regurgitation. Genes like Fibrillin-1 (FBN1), Filamin A (FLNA), matrix metalloproteinase 2 (MMP2), and SRY-box transcription factor 9 (SOX9) are known to influence mitral valve pathology but knowledge of the exact mechanism is far from clear. Data regarding serum parameters, transesophageal echocardiography, and genetic and histopathologic parameters were investigated in 54 patients who underwent cardiovascular surgery for mitral valve regurgitation. The possible association between Fibrillin-1, Filamin A, MMP2, and SOX9 gene expressions was checked in relationship with the parameters of systemic inflammatory response. The mRNA expression levels (RQ—relative quantification) were categorized into three distinct groups: low (RQ < 1), medium/normal (RQ = 1–2), and high (RQ > 2). Severe fibrosis of the mitral valve was reflected by high expression of FBN1 and low expression of MMP2 (p < 0.05). The myxoid degeneration level was associated with the mRNA expression level for FBN1 and a low lymphocyte-monocyte ratio was associated with an increased mRNA expression of FBN1 (p < 0.05). A high number of monocytes was associated with high values of FBN1 whereas the increase in the number of lymphocytes was associated with high levels of MMP2. In addition, we observed that the risk of severe hyalinization was enhanced by a low mRNA expression of FLNA and/or SOX9. In conclusion, a lower FLNA mRNA expression can reflect the aging process that is highlighted in mitral valve pathology as a higher risk for hyalinization, especially in males, that might be prevented by upregulation of the SOX9 gene. FBN1 and MMP2 influence the inflammation-related fibrotic degeneration of the mitral valve. Understanding the genetic base of mitral valve pathology can provide insights into disease mechanisms, risk stratification, and potential therapeutic targets. [ABSTRACT FROM AUTHOR]

The aging process can have notable effects on the mitral valve. During life, the mitral valve undergoes various changes that can impact its structure and function. The purpose of this review is to present a comprehensive overview of the literature published up to February 2024 in the Medline database regarding the impact of aging on the mitral valve. The studies were combined with the personal experience of the authors. Until 2024, out of the 12,189 publications that deal with the mitral valve in elderly individuals, 308 refer to mitral valve aging. After reviewing these data, we selected and analyzed the 73 most informative works regarding the age-related transformation of the mitral valve. Understanding the mechanisms driving the aging of the mitral valve is crucial for enhancing diagnostic and therapeutic strategies for reducing age-related valve dysfunction and the subsequent cardiovascular complications. [ABSTRACT FROM AUTHOR]

(1) Background: Colorectal cancer (CRC) remains a significant cause of morbidity and mortality worldwide, with its prognosis influenced by genetic and clinicopathological factors. This study investigates the associations between the gene expressions of Arylsulfatase B (ARSB), TP53, and Maspin, alongside traditional clinicopathological features, and their impact on CRC survival outcomes. (2) Methods: 70 consecutive CRC cases were analyzed for ARSB, TP53, and Maspin gene expression using RT-qPCR, and their protein levels were assessed through immunohistochemistry. Clinicopathological parameters—age, gender, tumor localization, macroscopic and microscopic aspects, lymph node ratio, pT stage, and tumor budding—were evaluated for their prognostic significance. Kaplan–Meier survival analysis with Cox proportional hazards regression was used to determine their impact on overall survival. (3) Results: No significant survival differences were observed based on age, gender, tumor localization, and macroscopic aspect. The microscopic aspect and pT stage showed significant associations with survival, with poorer outcomes in G3 and pT3/pT4 stages, respectively. Immunohistochemical positivity for ARSB and Maspin indicated a longer survival, while TP53 protein expression alone did not significantly impact the prognosis. Dual high gene expression (ARSB + TP53, TP53 + Maspin) and triple high gene expression (ARSB + TP53 + Maspin) were significantly associated with better survival outcomes. (4) Conclusions: The combined gene expression profile of ARSB, TP53, and Maspin presents a novel prognostic marker in CRC, offering insights into the molecular dynamics of cancer cells and potential therapeutic targets. These findings emphasize the importance of integrating molecular markers with traditional clinicopathological factors for a more accurate prognostication and personalized treatment approach in CRC. [ABSTRACT FROM AUTHOR]

Mutations and inactivation of the TP53 gene are frequently observed in various types of malignancies. Precise knowledge of the genetic structure and detection of mutation hotspots are crucial, as these indicate a high probability of developing cancer. The aim of our study was to perform the bioinformatic detection of mutation hotspots in the TP53 gene in patients diagnosed with malignant colon neoplasms using self-developed software (version 1). We compared TP53 gene sequences from 50 healthy individuals with those from 50 patients diagnosed with colorectal carcinoma. Of the 50 samples from cancer patients, the most frequent mutations were observed in exons 5 and 8 (12 mutations per exon) and gene sequences of 12 samples, which differed from those of the 50 samples from healthy individuals. Based on our results, the distribution of mutations in the TP53 gene structure was not even across different exons. By comparing the gene sequences of healthy individuals with those of colon cancer samples, we conclude that structural changes occurring in similar gene regions are not associated with increases in susceptibility to malignancies in every case, namely, that the pathological mechanism is multifactorial. [ABSTRACT FROM AUTHOR]

It is known that V-set and immunoglobulin domain containing 1 (VSIG1) is a cell–cell adhesion molecule that can serve as an indicator of better survival in patients with gastric cancer. Its interaction with cytoplasmic thyroid transcription factor 1 (TTF-1) has been hypothesized to characterize gastric-type HCC, but its clinical importance is far from understood. As VSIG1 has also been supposed to be involved in the epithelial–mesenchymal transition (EMT) phenomenon, we checked for the first time in the literature the supposed interaction between VSIG1, TTF-1, and Vimentin (VIM) in HCCs. Immunohistochemical (IHC) stains were performed on 217 paraffin-embedded tissue samples that included tumor cells and normal hepatocytes, which served as positive internal controls. VSIG1 positivity was seen in 113 cases (52.07%). In 71 out of 217 HCCs (32.71%), simultaneous positivity for VSIG1 and TTF-1 was seen, being more specific for G1/G2 carcinomas with a trabecular architecture and a longer OS (p = 0.004). A negative association with VIM was revealed (p < 0.0001). Scirrhous-type HCC proved negative for all three examined markers. The present paper validates the hypothesis of the existence of a gastric-type HCC, which shows a glandular-like architecture and is characterized by double positivity for VSIG1 and TTF-1, vimentin negativity, and a significant OS. [ABSTRACT FROM AUTHOR]