Search Results (1,151)

Genomic studies have provided key insights into the molecular pathogenesis of differentiated thyroid carcinoma (DTC), including the role of genes involved in the homologous recombination (HR) related to DNA repair and genomic stability. This research aimed to investigate the genetic landscape of HR genes in thyroid pathology, associated with recurrence risk and clinical prognosis. The study involved six individuals with thyroid conditions, including two patients diagnosed with papillary thyroid carcinoma (PTC) and four individuals with benign thyroid disease. The research material consisted of tumor samples collected during surgical procedures. Protein interactions were analyzed using the STRING database (string-db.org). Homologous recombination genes were sequenced using the HRR Panel vr1.0 on the MiSeq™ Sequencing System. Bioinformatics analysis revealed a relationship between BRAF mutations and HR gene defects in PTC. Mutations in BRCA1, BRCA2, and FANCA genes, typically associated with thyroid tumors, were identified in the tissue of papillary thyroid cancer (PTC). A statistically significant correlation was found between the FANCA gene mutation (rs7195066) and the recurrent course of the PTC. The preliminary findings suggest a potential role for non-pathogenic BARD1 mutations in follicular adenoma. No significant association was found between genes involved in homologous recombination repair and the incidence of papillary thyroid carcinoma, suggesting that these genes may not play a major role in the development of this type of thyroid cancer. Full article

Fusobacterium nucleatum (Fn) has been increasingly recognized as a crucial mediator of colorectal cancer (CRC) biology, particularly in microsatellite-stable (MSS) tumors, where immune checkpoint inhibitors (ICIs) have shown limited efficacy. Rather than representing a passive microbial passenger, Fn actively shapes tumor behavior by adhering to epithelial cells, activating oncogenic signaling, and promoting epithelial–mesenchymal transition (EMT). At the same time, it remodels the tumor microenvironment, driving immune suppression through inhibitory receptor engagement, accumulation of myeloid-derived cells, and metabolic reprogramming of tumor-associated macrophages. These mechanisms converge to impair cytotoxic immunity and contribute to both intrinsic and acquired resistance to ICIs. Beyond immune escape, Fn interferes with conventional chemotherapy by sustaining autophagy and blocking ferroptosis, thereby linking microbial colonization to multidrug resistance. Most of these mechanisms derive from preclinical in vitro and in vivo models, where causal relationships can be inferred. In contrast, human data are mainly observational and provide correlative evidence without proving causality. No interventional clinical studies directly targeting Fn have yet been conducted. Its enrichment across the adenoma–carcinoma sequence and consistent detection in both tumor and fecal samples highlight its potential as a biomarker for early detection and patient stratification. Importantly, multidimensional stool assays that integrate microbial, genetic, and epigenetic markers are emerging as promising non-invasive tools for CRC screening. Therapeutic strategies targeting Fn are also under exploration, ranging from antibiotics and bacteriophages to multifunctional nanodrugs, dietary modulation, and natural microbiota-derived products. These approaches may not only reduce microbial burden but also restore immune competence and enhance the efficacy of immunotherapy in MSS CRC. Altogether, current evidence positions Fn at the intersection of microbial dysbiosis, tumor progression, and therapy resistance. A deeper understanding of its pathogenic role may support the integration of microbial profiling into precision oncology frameworks, paving the way for innovative diagnostic and therapeutic strategies in CRC. Full article

Background: Hypophosphatemia is a frequently underestimated metabolic disorder, yet it can be one of the first biochemical findings in primary hyperparathyroidism (PHPT). Current diagnostic and surgical criteria for PHPT do not include serum phosphate, despite its potential value as an early marker. Methods: We report the case of a 79-year-old woman with type 2 diabetes mellitus, hypertension and osteoarthritis, followed since 2015 for persistent hypophosphatemia (0.8 mg/dL) and stress fractures. Results: Initial calcium and vitamin D levels were normal, but PTH was elevated. Bone scintigraphy revealed multiple stress fractures, while ultrasound and sestamibi scan were inconclusive. Despite cholecalciferol and calcitriol supplementation, hypophosphatemia persisted. From 2023, progressive hypercalcemia developed (10.9 mg/dL), with sustained hypophosphatemia (1.7 mg/dL), persistently high PTH (121 pg/mL) and markedly elevated FGF-23 (1694 kRU/L). Renal phosphate wasting was demonstrated, with reduced tubular reabsorption. An 18F-fluorocholine PET-CT performed in 2024 identified two right parathyroid adenomas, establishing the diagnosis of PHPT. The patient was referred for parathyroidectomy. Conclusions: Hypophosphatemia may serve as a complementary biomarker in the diagnostic and therapeutic approach to PHPT, but only after other potential causes of low phosphate levels have been excluded, as illustrated in this case. Its consideration could facilitate the early identification of PHPT and improve clinical decision-making, particularly in patients who do not meet classical surgical indications. Full article

Background: Colonoscopy remains the gold standard for colorectal cancer screening. Deep learning systems with real-time computer-aided polyp detection (CADe) demonstrate high accuracy in controlled research settings and preliminary randomized controlled trials (RCTs) report favorable outcomes in clinical settings. This study aims to evaluate the efficacy of AI-assisted colonoscopy compared to standard colonoscopy focusing on Polyp Detection Rate (PDR) and Adenoma Detection Rate (ADR), and to explore their implications for clinical practice. Methods: A systematic search was conducted using multiple indexing databases for RCTs comparing AI-assisted to standard colonoscopy. Random-effect models were utilized to calculate pooled odds ratios (ORs) with 95% confidence intervals. The risk of bias was assessed using the Cochrane Risk of Bias Tool, and heterogeneity was quantified using I statistics. Results: From 22,762 studies, 12 RCTs (n = 11,267) met the inclusion criteria. AI-assisted colonoscopy significantly improved PDR (OR 1.31, 95% CI 1.08–1.59, p = 0.005), despite heterogeneity among studies (I² = 79%). While ADR showed improvement with AI-assisted colonoscopy (OR 1.24, 95% CI, 0.98–1.58, p = 0.08), the result was not statistically significant and had high heterogeneity (I² = 81%). Conclusions: AI-assisted colonoscopy significantly enhances PDR, highlighting its potential role in colorectal cancer screening programs. However, while an improvement in the ADR was observed, the results were not statistically significant and showed considerable variability. These findings highlight the promise of AI in improving diagnostic accuracy but also point to the need for further research to better understand its impact on meaningful clinical outcomes. Full article

Background: The pathogenesis of various colon-related pathologies, including irritable bowel syndrome, uncomplicated diverticulitis, and tubular adenoma, remains unknown, primarily due to their multifactorial nature. These gastrointestinal diseases are increasing in prevalence in Western countries and are common conditions worldwide. Objective: To identify intestinal microbiota signs and their associations with the development of colonic pathologies, such as irritable bowel syndrome, uncomplicated diverticulitis, and tubular adenoma. Materials and Methods: An observational, prospective, cross-sectional study was conducted to compare the microbiome among three conditions via 16S rRNA sequencing of biopsy samples obtained via colonoscopy. Results: The microbiome of individuals with tubular adenoma was less diverse than that of patients with diverticulitis and irritable bowel syndrome, with a lower abundance of commensal bacterial genera, such as Catenibacterium, Bifidobacterium, and Faecalibacterium, and an increase in several genera with known pathogenic roles, including Escherichia–Shigella, Fusobacteria, Prevotella, and Haemophilus. No significant association was found between the type of pathology and the total pathogenic or commensal disease score; however, a ratio of 2.54 to pathogenic/commensal was observed in the IBS patient group. In contrast, in the diverticulitis and adenoma patient groups, this ratio was 8. Conclusions: These results provide evidence supporting the proposal that alterations in the colonic microbiome could be involved in various colonic pathogeneses and that an imbalance between commensal and pathogenic populations could be directly related to pathogenesis in the microsystem. It is important to highlight the need for future studies. Full article

Background: This study investigates the incidence and radiological features of hyperechoic hepatic lesions in northern Saudi Arabia, using ultrasound (US) and computed tomography (CT). The aim is to evaluate the frequency of occurrence of these lesions and to describe the imaging characteristics of different focal hepatic lesions. Methods: A retrospective study was performed on 191 patients diagnosed with hyperechoic hepatic lesions at a single centre. Imaging data from ultrasound and CT scans were analyzed, including lesion number, segmental distribution, echogenicity, enhancement patterns, size, and type. Statistical methods included incidence calculation, variable correlation, and Pearson’s Chi-square test, with significance set at p < 0.05. Results: The incidence of hyperechoic hepatic lesions was 1.27%, with a higher prevalence in females (57.59%) and a median age of 40 years. Hemangiomas were the most common type of lesion (94.77%). Most lesions were solitary (87.43%) and benign (96.86%), with malignant lesions accounting for only 3.14%. A statistically significant age difference was observed between patients with benign and malignant lesions (p < 0.05). Conclusions: Focal hyperechoic hepatic lesions are relatively common in the northern Saudi population, with haemangiomas being the predominant benign entity. These lesions occur more frequently in women and are usually solitary. Ultrasound, complemented by problem-solving techniques such as contrast-enhanced ultrasound (CEUS) or triphasic CT, effectively characterizes hyperechoic hepatic lesions and guides clinical decisions regarding further evaluation or management. Full article

Drug–radiopharmaceutical interactions can significantly alter radiotracer biodistribution, complicating diagnostic accuracy. This case report describes a 64-year-old male who underwent a Technetium-99m-methoxyisobutyl isonitrile (^99mTc-MIBI) parathyroid scan for suspected primary hyperparathyroidism. Initially, the patient was asked to discontinue his medications for his chronic illnesses for 24 h prior to the scan. However, the images revealed significantly reduced counts/tracer uptake in the thyroid, parathyroid and cardiac tissues in both the early and delayed phases. After a detailed review of his medication profile, it was postulated that there were potential interactions involving multiple P-glycoprotein (P-gp) substrates with specific emphasis on amlodipine, atorvastatin and telmisartan. The patient was advised to discontinue all medications for 72 h prior to the date of a repeat scan which was scheduled for two weeks after his initial scan. The repeat scan successfully detected a small focus of marked tracer retention in the left inferior parathyroid bed, suggestive of a small parathyroid adenoma. Post-surgery, the focus identified on the scan was removed and histologically confirmed to be a parathyroid adenoma. This is the first report of its kind among nuclear medicine patients in Jamaica. It highlights the importance of reviewing medication history prior to nuclear imaging, particularly when using radiotracers affected by P-gp mechanisms. This is crucial for mitigating against false-negative results, thus ensuring accurate diagnosis and appropriate clinical management. Full article

The morphogenesis of the primordial gut relies on signaling pathways such as Wnt, FGF, Notch, Hedgehog, and Hippo. Reciprocal crosstalk between the endoderm and mesoderm is integrated into the signaling pathways, resulting in craniocaudal patterning. These pathways are also involved in adult intestinal homeostasis including cell proliferation and specification of cell fate. Perturbations in this process can cause growth disturbances manifesting as adenomas, serrated lesions, and cancer. Significant differences have been observed between right and left colon cancers in the hindgut, and between the jejunoileum, appendix, and right colon in the midgut. The question is to what extent the embryology of the mid- and hindgut contributes to differences in the underlying tumor biology. This review examines the precursor lesions and consensus molecular subtypes (CMS) of colorectal cancer (CRC) to highlight the significance of embryology and tumor microenvironment (TME) in CRC. The three main precursor lesions, i.e., adenomas, serrated lesions, and inflammatory bowel disease-associated dysplasia, are linked to the CMS classification, which is based on transcriptomic profiling and clinical features. Both embryologic and micro-environmental underpinnings of the mid- and hindgut contribute to the differences in the tumors arising from them, and they may do so by recapitulating embryonic signaling cascades. This manifests in the range of CRC CMS and histologic cancer subtypes and in tumors that show multidirectional differentiation, the so-called stem cell carcinomas. Emerging evidence shows the limitations of CMS particularly in patients on systemic therapy who develop drug resistance. The focus is thus transitioning from CMS to specific components of the TME. Full article

Introduction: Cushing syndrome (CS) is a medical condition resulting from prolonged hypercortisolemia. The most common reason for endogenous CS is ACTH overproduction by pituitary adenoma, and then it is called Cushing disease (CD). The gold standard of CD diagnostic remains bilateral inferior petrosal sinus sampling (BIPSS); nevertheless, non-invasive diagnostic methods are being sought to provide a higher safety profile. The aim of this study was to evaluate whether [¹¹C]C-MET PET/CT can serve as a non-invasive alternative to BIPSS and MRI in CD diagnosis. Methods: This prospective study included 21 patients with CD who underwent BIPSS, MRI of the pituitary, and [¹¹C]C-MET PET/CT. Results: Sensitivity of BIPSS, MRI and [¹¹C]C-MET PET/CT was 100%, 59% and 24%, respectively, while specificity was 100%, 75%, and 13%. Next, we retrospectively compared PET/CT results for patients with corticotrope pituitary adenomas (n = 18) with those for individuals with no pituitary pathology (n = 18), and the results showed significantly higher SUV_max in the study group (3.74 ± 0.90 vs. 1.87 ± 1.17; p < 0.001). In ROC curve analysis, the area under the curve (AUC) was 0.889 (p <0.001; 95% CI 0.784–0.994). For SUV_max 2.60, the calculated sensitivity and specificity were 89% and 78% respectively, and for SUV_max 3.56, sensitivity and specificity were 67% and 89%, respectively. Conclusions: [¹¹C]C-MET PET/CT seems not to be a reliable diagnostic option in the diagnosis of pituitary corticotropic adenomas. BIPSS proved still to be the best diagnostic option for CD. Nevertheless, a higher than normal pituitary accumulation of the radiotracer may suggest the presence of increased amino acid metabolism, thus, the presence of adenoma. Full article

Case Presentation: A 67-year-old man presented with transient loss of consciousness and dizziness after weeks of vomiting, weakness, and recurrent syncopal episodes. Initial laboratory findings showed hyponatremia (Na 125 mEq/L), severe hypokalemia (K 2.3 mEq/L), hypochloremia (Cl 77 mEq/L), metabolic alkalemia (pH 7.5; HCO₃⁻ 34 mEq/L), low serum osmolality (263 mOsm/L) with inappropriately concentrated urine (332 mOsm/kg), and prerenal azotemia (creatinine 3.4 mg/dL; eGFR 19 mL/min/1.73 m²; blood urea 209 mg/dL). Contrast-enhanced CT, along with colonoscopy, identified a large mucus-secreting villous adenoma in the upper rectum. After fluid and electrolyte replacement, the patient underwent surgical resection with complete remission of symptoms and correction of electrolyte abnormalities on follow-up. Conclusion: Rectal villous adenomas should be considered in older adults with unexplained hypovolemia, hypokalemic hyponatremia, and metabolic alkalemia. Early recognition and definitive resection are curative and prevent kidney injury. Full article

Background/Objectives: Colorectal cancer (CRC) is a major global health concern, with rising incidence across age groups. Early detection via colonoscopy and identification of precancerous polyps are crucial for prevention and improved outcomes. The objectives were to evaluate the epidemiology, anatomical distribution, morphology, and histopathology of CRC, and its association with synchronous colorectal polyps. Methods: In 2023, a retrospective study was conducted on 1973 patients undergoing colonoscopy due to symptoms like blood in the stool, changes in bowel habits, abdominal pain, weight loss, anemia, or as CRC follow-up. Complete colonoscopies were performed, and suspicious lesions were biopsied or resected for histological evaluation. Statistical analysis was performed using SPSS 11.0. Results: CRC was diagnosed in 78 patients (3.95%), with a male predominance (70.51%, p < 0.05) and a mean age of 65.1 ± 8.9 years. The most affected age group was 61–70 years (43.58%). Tumors were most commonly located in the rectum (32.05%) and sigmoid colon (26.92%). Polypoid morphology was observed in 67.95% of cases. Adenocarcinoma was the predominant histological type (93.59%), followed by mucinous adenocarcinoma (6.41%), with significant differences between right and left colon (p < 0.001). Synchronous polyps were detected in 47.43% of CRC cases, primarily adenomas (60.22%). In 37.84%, the tumor and polyp were in the same colon segment. Men had a higher rate of synchronous polyps than women (p < 0.05). Conclusions: CRC is more common in older males and typically affects the rectosigmoid region. Adenocarcinoma is the leading type. Nearly half of patients had synchronous adenomas, highlighting the importance of full colonoscopy for early CRC detection and prevention. Full article

Background/Objectives: The management of pituitary adenomas involves balancing treatment efficacy with the risk of long-term morbidity, particularly treatment-induced hypopituitarism. While risk factors are qualitatively recognized, quantitative, individualized risk prediction tools for clinical practice are lacking. This study aims to evaluate and characterize the clinical features, hormonal profiles, and treatment outcomes of pituitary adenomas, and to develop and validate a pragmatic clinical prediction model for new-onset hypopituitarism. Methods: We conducted a retrospective cohort study of 215 patients diagnosed with pituitary adenomas, selected from 647 sellar lesions screened at a tertiary referral center between January 2010 and December 2020. Primary outcomes included adenoma size control, hormonal remission in functioning adenomas, and the development of new-onset hypopituitarism. A multivariable logistic regression model was developed to identify independent predictors of new-onset hypopituitarism, and its performance was assessed for discrimination and calibration. Results: The cohort consisted of 107 prolactinomas (49.8%), 77 non-functioning adenomas (35.8%), 18 GH-secreting (8.4%), and 8 ACTH-secreting (3.7%) adenomas, with a mean age of 43.2 ± 14.1 years and a female predominance (59.1%). At a median follow-up of 4.8 years, overall adenoma control was 92.1%. Radiotherapy achieved 100% adenoma control but was associated with the highest incidence of new hypopituitarism at 5 years (34.3%), significantly greater than medical therapy (5.6%, p < 0.001) and surgery (13.0%, p < 0.01). The final risk prediction model, incorporating treatment modality, baseline hypopituitarism, macroadenoma, age >50 years, and cavernous sinus invasion, demonstrated good discrimination (C-statistic = 0.82; 95% CI: 0.76–0.88) and excellent calibration (Hosmer–Lemeshow p = 0.42). Conclusions: Treatment modalities for pituitary adenomas have distinct risk–benefit profiles. Our validated, points-based risk model provides a transparent and clinically applicable tool to quantify an individual patient’s risk of developing hypopituitarism. This model can be integrated into clinical practice to facilitate shared decision-making and guide personalized surveillance strategies. Full article

The widespread use of advanced imaging techniques has led to a rising incidence of adrenal incidentalomas (AIs), asymptomatic adrenal masses discovered during imaging for non-adrenal-related conditions. AIs represent a diagnostic and therapeutic challenge due to their varied etiology, secretory potential, and potential for malignancy. This review aims to provide a comprehensive overview of the current knowledge on adrenal incidentalomas, focusing on their pathogenesis, diagnostic work-up, imaging features, hormonal evaluation, and evidence-based management, with a special emphasis on autonomous cortisol secretion (ACS). A thorough narrative review of the literature from the past two decades was conducted, synthesizing data from key international guidelines (ESE/ENSAT), observational studies, meta-analyses, and case series regarding the evaluation and treatment of AI. AI represents an increasingly relevant clinical condition requiring a multidisciplinary, personalized approach. Prompt endocrine and radiological evaluation is essential to identify hormonally active or potentially malignant tumors. The complexity of the natural history of AI and the evolving understanding of ACS underline the need for tailored follow-up and management strategies. Full article

Obesity is characterized by low-grade chronic inflammation, similar to the pathophysiology of inflammatory bowel disease (IBD) and colon cancer. IBD, which includes Crohn’s disease and ulcerative colitis, is becoming increasingly common in obese individuals. Our previous research documented that both IBD and obesity involve disrupted NaCl homeostasis in the small intestine. The present study investigated how obesity affects NaCl homeostasis in the distal colon, using the Zucker (Lepr^fa) rat as a genetic model of obesity. The functional and molecular alterations in NaCl homeostasis were evaluated through radioactive uptakes, RT-qPCR, and Western blot studies. We found a significant reduction in Cl absorption via Cl⁻/HCO₃⁻ exchanger, Downregulated in Adenoma (DRA) in the distal colon of obese rats compared to lean controls. This reduction was due to a decrease in the maximum transport capacity (V_max) of DRA, with no change in the affinity of the exchanger for chloride. DRA mRNA and protein levels were also downregulated in obese animals. In contrast, Na absorption via Na⁺/H⁺ exchanger and its expression remained unchanged. These findings are the first to demonstrate that DRA is significantly impaired in the distal colon due to obesity. This suggests that net NaCl absorption in the distal colon is compromised in obesity, potentially increasing the risk for IBD and colon cancer. Full article

Background: Radiomics offers quantitative, high-dimensional data from conventional imaging and holds promise for improving diagnosis and treatment of pituitary adenomas (PAs). This systematic review aimed to synthesize current clinical applications of radiomics in PAs, focusing on diagnostic, predictive, and prognostic modeling. Methods: This review followed the PRISMA 2020 guidelines. A systematic search was performed in PubMed, Scopus, and Web of Science on 10 January 2024, and updated on 5 March 2024, using predefined keywords and MeSH terms. Studies were included if they evaluated radiomics-based models using MRI for diagnosis, classification, consistency, invasiveness, treatment response, or recurrence in human PA populations. Data extraction included study design, sample size, MRI sequences, feature types, machine learning algorithms, and model performance metrics. Study quality was assessed via the Newcastle-Ottawa Scale. Descriptive statistics summarized study characteristics; no meta-analysis was performed due to heterogeneity. Results: Out of 341 identified articles, 49 studies met inclusion criteria, encompassing a total of more than 9350 patients. The majority were retrospective (43 studies, 88%). MRI sequences used included T2-weighted imaging (35 studies, 71%), contrast-enhanced T1WI (34 studies, 69%), and T1WI (21 studies, 43%). PyRadiomics was the most common feature extraction tool (20 studies, 41%). Machine learning was employed in 43 studies (88%), predominantly support vector machines (16 studies, 33%), random forests (9 studies, 18%), and logistic regression (9 studies, 18%). Deep learning methods were applied in 17 studies (35%). Regarding diagnostic performance, 22 studies (45%) reported an (AUC) ≥0.85 in test datasets. External validation was performed in only 6 studies (12%). Radiomics applications included histological subtype prediction (14 studies, 29%), surgical outcome prediction (13 studies, 27%), invasiveness assessment (7 studies, 15%), tumor consistency evaluation (8 studies, 16%), and response to medical or radiotherapy treatments (3 studies, 6%). One study (2%) addressed automated segmentation and volumetry. Conclusions: Radiomics enables high-performance, noninvasive prediction of PA subtypes, consistency, invasiveness, treatment response, and recurrence, with 22 studies (45%) reporting AUC ≥0.85. Despite promising results, clinical translation remains limited by methodological heterogeneity, low external validation (6 studies, 12%), and lack of standardization. Full article