Background:Sexual dysfunctions (SD) are highly prevalent in Chronic Liver Diseases (CLD). Whether Metabolic dysfunction-Associated Steatotic Liver Disease (MASLD) carries a higher risk of SD is unknown as is the role of dietary patterns or quality of Life (QoL). Aim:to assess (1) prevalence of SD in CLD; (2) whether MASLD is a risk factor for SD; (3) the role of adherence to Mediterranean Diet (MD) or QoL. Methods:Observational, cross-sectional study, 207 CLD patients (84 females and 123 males), median age 57 years (IQR:46-63); 96 (46.4%) MASLD; and 111 (53.6%) nonMASLD. Outcomes:SD were assessed through Female Sexual Function Index (FSFI) and International Index of Erectile Function (IIEF) questionnaires. Adherence to MD was evaluated by the MD Score, QoL by SFHS-12 questionnaire evaluating physical [(ie, Physical Component Summary (PCS)] and mental [(ie, Mental Component Summary (MCS)] health. Multivariate analysis identified predictors of SD. Results:(1) SD prevalence in CLD was 157/207 (75.8%); 80.9% females were at risk for SD, altered sexual desire/arousal and dyspareunia being the most common complaints, whereas 72.3% males had erectile dysfunction (ED); (2) prevalence of SD was higher in MASLD (89%) than in nonMASLD (64%) (P < 0.001); (3) in females, at univariate analysis, a negative correlation was found between FSFI and age, hypertension, or MASLD; (4) in males, at univariate analysis, IIEF-ED negatively correlated with age, DM2, or MASLD, whereas positively correlated with PCS and MCS; (5) in females, at multivariate analysis BMI (OR = 0.779,CI 95% = 0.640-0.948) and MCS (OR = 0.840,CI 95% = 0.741-0.953) were protective against SD, whereas age (OR = 1.115,CI 95% = 1.040-1.263) and DM2 (OR = 120.894,CI 95% = 1.396-10 741) were predictive of SD; (6) in males, at multivariate analysis, age (OR = 1088,CI 95% = 1032-1.148) and MASLD (OR = 4.075,CI 95% = 1.120-14.828) were risk factors for, whereas PCS (OR = 0,928,CI 95% = 0,865-0,995), and disease duration (OR = 0.393,CI 95% = 0.187-0.822) were protective against SD; 7) MD adherence, while higher in nonMASLD vs MASLD (P = 0.004), was not an independent protective factor against SD. Clinical Implications:SD should not be underestimated in CLD patients, in particular those with MASLD. Strengths and Limitations:Comprehensive study evaluating SD in a large cohort of CLD patients of both sexes, comparing MASLD vs nonMASLD. Due to its cross-sectional design, no conclusions can be drawn about cause and effect. Conclusions:(1) CLD, in particular MASLD, have a high prevalence of SD which is not affected by MD adherence, whereas QoL seems to play a role; (2) CLD patients should be evaluated for SD, for early diagnosis and treatment.
Background:Adrenal lesions, often incidentally detected, present diagnostic challenges in distinguishing benign from malignant or hormonally active lesions. Conventional imaging (computed tomography/magnetic resonance imaging (CT/MRI)) has limitations, driving interest in artificial intelligence (AI) and radiomics for enhanced accuracy. Objectives:To systematically evaluate AI and radiomics applications in adrenal lesion characterization, focusing on diagnostic performance, methodologies, and clinical utility. Design:PRISMA-guided systematic review of studies published up to June 2024. Data sources and methods:PubMed, Scopus, Web of Science, and Google Scholar were searched using the keywords: adrenal lesions, AI, radiomics, and machine learning. Inclusion followed PICO criteria: patients with indeterminate lesions, AI/radiomics interventions, comparisons to standard diagnostics, and diagnostic accuracy. Two reviewers screened studies, resolving discrepancies via consensus. Eleven retrospective studies (996 patients) met eligibility. Results:CT-based radiomics (eight studies) achieved a mean AUC of 0.88 (range: 0.84-0.94) in differentiating benign/malignant or functional/non-functional lesions. Top-performing models identified aldosterone-producing adenomas (AUC: 0.99). MRI-based radiomics (three studies) yielded mean AUC: 0.82 (0.72-0.92), with test-set performance declines (e.g., AUC: 0.72) suggesting overfitting. Nuclear medicine (four studies) demonstrated that hybrid 18F-FDG PET/CT models (SUVmax + texture features) achieved an AUC of 0.97 for metastatic versus benign lesions. AI applications extended to intraoperative navigation (AUC: 0.93) and prognostic prediction. Conclusion:CT-based radiomics outperformed MRI, aligning with guidelines favoring CT for adrenal assessment. AI-enhanced models show promise in refining diagnostics and reducing invasive procedures. However, retrospective designs, small cohorts, and protocol variability limit generalizability. Future work requires multicenter collaboration, standardized protocols, and prospective validation to translate AI/radiomics into clinical practice.
OBJECTIVE:To report oncological outcomes after thulium-yttrium-aluminum-garnet (Tm:YAG) laser ablation for penile cancer patients. MATERIALS AND METHODS:We retrospectively analyzed 71 patients with ≤cT1 penile cancer (2013-2022). All patients underwent Tm:YAG ablation with a RevoLix 200W continuous-wave laser. First, Kaplan-Meier plots and multivariable Cox regression models tested local tumor recurrence rates. Second, Kaplan-Meier plots tested progression-free survival (≥T3 and/or N1-3 and/or M1). RESULTS:Median (interquartile range) follow-up time was 38 (22-58) months. Overall, 33 (50.5%) patients experienced local tumor recurrence. Specifically, 19 (29%) vs 9 (14%) vs 5 (7.5%) patients had 1 vs 2 vs 3 recurrences over time. In multivariable Cox regression models, a trend for higher recurrence rates was observed for G3 tumors (hazard ratio:6.1; P = .05), relative to G1. During follow-up, 12 (18.5%) vs 4 (6.0%) vs 2 (3.0%) men were retreated with 1 vs 2 vs 3 Tm:YAG laser ablations. Moreover, 11 (17.0%) and 3 (4.5%) patients underwent glansectomy and partial/total penile amputation. Last, 5 (7.5%) patients experienced disease progression. Specifically, TNM stage at the time of disease progression was: (1) pT3N0; (2) pT2N2; (3) pTxN3; (4) pT1N1 and (5) pT3N3, respectively. CONCLUSION:Tm:YAG laser ablation provides similar oncological results as those observed by other penile-sparing surgery procedures. In consequence, Tm:YAG laser ablation should be considered a valid alternative for treating selected penile cancer patients.
Background and aims: International guidelines recommend testing BRCA2 in men with prostate cancer, due to the presence of a strong association with this gene. Some ethnicities present disparities in genetic distribution for the relation with specific founder variants. Ashkenazi Jewish people are, importantly, at high risk of breast cancer for their inherited cluster with germline BRCA1/2 variants. However, in Ashkenazi men with prostate cancer, the prevalence of BRCA1 and/or BRCA2 is not well defined. We assessed the frequency of these variants in Ashkenazi vs. non-Ashkenazi men with prostate cancer. Materials and Methods: In accord with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement, we revised all germline BRCA variants reported in MEDLINE from 1996 to 2021 in Ashkenazi and non-Ashkenazi men with prostate cancer. Results: Thirty-five original studies were selected for the analysis. Among populations from Israel and North America, Ashkenazi Jewish men presented higher prevalence of BRCA1 variants [0.9% (0.4–1.5) vs. 0.5% (0.2–1.1), p = 0.09] and a lower prevalence of BRCA2 variants [1.5% (1.1–2.0) vs. 3.5% (1.7–5.9), p = 0.08] in comparison to the non-Ashkenazi population. Conclusions: Since germline BRCA1 variants are more prevalent and BRCA2 variants are less prevalent in PCa patients of Ashkenazi Jewish ethnicity in comparison to non-Ashkenazi patients, prostate cancer genetic screening in Ashkenazi men should not be restricted to the BRCA2 gene.
INTRODUCTION The objective of this study was to re-classify published germline CDH1 variants identified in gastric cancer (GC) in accordance with the latest ClinVar definition and to correlate their pathogenicity with the established international clinical criteria for genetic testing. METHODS The relevant literature dating from 1998 to 2019 was systematically searched for data on CDH1 germline mutations in accord with PRISMA guidelines. The collected variants were classified according to the latest ClinVar definition into the following classes: benign (B), likely benign (LB), pathogenic (P), likely pathogenic (LP), and variant of unknown significance (VUS). The Mc-Nemar test was used to compare the adequacy of current versus previous International GC Linkage Consortium (IGCLC) criteria. RESULTS We re-classified a total of 247 CDH1 variants, and we identified that about 70% of B/LB variant carriers were not fulfilling the defined clinical criteria. Instead, all P/LP variants (100%) were associated with the hereditary diffuse gastric cancer (HDGC) phenotype fulfilling the 2020 ILGCC criteria, with a significant improvement (p=0.025) compared to previous version. CONCLUSIONS We conclude that germline CDH1 genetic testing is indicated only in families meeting the clinical criteria for the HDGC syndrome. This observation suggests that clinical phenotypes that do not clearly fulfill these criteria should not be considered for CDH1 genetic testing.
The objective of this study was to determine the male and female frequency of diffuse gastric cancer (DGC), the age at diagnosis, and the country of origin in a selected population with germline CDH1 variants from families with the hereditary diffuse gastric cancer (HDGC) syndrome. Relevant literature dating from 1998 to 2021 was systematically searched for data on CDH1 gene. The Wilcoxon rank sum test and the Chi-square test were used to estimate if the difference observed between patients with gastric cancer (GC) and unaffected individuals was significant. We identified 80 families fulfilling the established clinical criteria for HDGC CDH1 genetic screening. There were more women than men with DGC and germline CDH1 variant (65.5
We tested the feasibility and oncological outcomes after penile-sparing surgery (PSS) for local recurrent penile cancer after a previous glansectomy/partial penectomy. We retrospectively analysed 13 patients (1997–2022) with local recurrence of penile cancer after a previous glansectomy or partial penectomy. All patients underwent PSS: circumcision, excision, or laser ablation. First, technical feasibility, treatment setting, and complications (Clavien–Dindo) were recorded. Second, Kaplan–Meier plots depicted overall and local recurrences over time. Overall, 11 (84.5%) vs. 2 (15.5%) patients were previously treated with glansectomy vs. partial penectomy. The median (IQR) time to disease recurrence was 56 (13–88) months. Six (46%) vs. two (15.5%) vs. five (38.5%) patients were treated with, respectively, local excision vs. local excision + circumcision vs. laser ablation. All procedures, except one, were performed in an outpatient setting. Only one Clavien–Dindo 2 complication was recorded. The median follow-up time was 41 months. Overall, three (23%) vs. four (30.5%) patients experienced local vs. overall recurrence, respectively. All local recurrences were safely treated with salvage surgery. In conclusion, we reported the results of a preliminary analysis testing safety, feasibility, and early oncological outcomes of PSS procedures for patients with local recurrence after previous glansectomy or partial penectomy. Stronger oncological outcomes should be tested in other series to optimise patient selection.
After lung, prostate cancer is the second most frequently diagnosed cancer and fourth in cancer-related mortality. The etiology is largely unknown and no clear risk factors have been identified. Primary prevention is therefore challenging. Also, secondary prevention, screening, in large populations is difficult. Germline mutations are implicated in hereditary prostate cancer, accounting for about 10% of screened men. Currently, only prostate-specific antigen test is adopted for early detection but is considered insufficient to further improve prevention and care. In this opinion article, we discuss novel diagnostic biomarkers and imaging tools, along with more promising targeted prostate biopsies.
The global distribution of germline CDH1 mutations in hereditary diffuse gastric cancer families, is highly heterogenous. The aim of this study was to determine if there is any geographic clustering of CDH1 mutations in families with the hereditary diffuse gastric cancer syndrome. Data from 1998 to 2021 were collected systematically according to the PRISMA guidelines. 571 germline CDH1 mutations were recorded worldwide, with 387 (67.8
IntroductionThe aim of this multicenter study was to investigate the role of age (cut-off 70 years) at diagnosis in predicting oncologic behavior of pure carcinoma in situ of the bladder.Material and MethodsInclusion criteria were: patients with pure CIS confirmed and that followed intravesical BCG treatment. Pure CIS was defined at any CIS not associated with another urothelial cancer. Exclusion criteria were: any CIS associated with invasive urothelial carcinoma. A total of 172 with pure CIS treated between January 1, 2002 and December 31, 2012 at 8 academic institutions met the inclusion criteria. The maintenance schedule was generally according to the EAU guidelines at the timeResultsA total of 99 (57.6%) patients had an age >70 years prior to TURBT. There was no difference between clinico-pathologic features among groups (group 1, age ≤ 70 years and group 2, age > 70 years), except that patients aged ≤ 70 years presented a larger size of CIS (35.6% vs. 21.2%), P = .02. In multivariable Cox regression analyses, the same clinico-pathologic factors (age, multifocality, and recurrent tumor state) were independently associated with worse RFS. Harrell's C-index was 65.75.In multivariable Cox regression analyses in addition to age (P = .006) and multifocality (P < .001) also BMI (P = .04) was independently associated with worse PFS. Harrell's C-index was 74.71ConclusionAdvanced age at diagnosis appears to be associated with an increased risk of recurrence and progression of pure carcinoma in situ of the bladder. Elderly patients might fail to respond to BCG therapy.