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Objective: 3D models are increasingly used as additional preoperative tools for renal surgery. We aim to evaluate the impact of 3D renal models in the assessment of PADUA, RENAL, Contact Surface Area (CSA) and Arterial Based Complexity (ABC) for the prediction of complications after Robot assisted Partial Nephrectomy (RAPN)., Methods and Materials: Overall, 57 patients with T1 and 1 patient with T2 renal mass referred to RAPN, were prospectively enrolled. 3D virtual modelling was obtained from 2D computed tomography (CT). Two radiologists recorded PADUA 2D , RENAL 2D , CSA 2D and ABC 2D by evaluation of 2D images; two bioengineers recorded PADUA 3D , RENAL 3D, CSA 3D and ABC 3D by evaluation of the 3D model, using MeshMixer software. To evaluate the concordance between 2D and 3D nephrometry scores, Cohen's j coefficient was calculated. Receiver-operating characteristic (ROC) curves were generated to evaluate the accuracy of 3D and 2D nephrometry scores to predict overall complications. Finally, the impact of 3D model on clamping approach during RAPN was compared to 2D imaging., Results: PADUA 3D , RENAL 3D, CSA 3D and ABC 3D scores had a significant different distribution compared to PADUA 2D , RENAL 2D , CSA 2D and ABC 2D (all p≤0.03). 2D nephrometry scores may be unchanged, reduced or increased after assessment by 3D models: CSA 3D , PADUA 3D , RENAL 3D and ABC 3D were reduced in14%, 26%, 29% and 16% and increased in 16%, 36%, 38% and 29% of cases, respectively. At ROC curve analysis, PADUA 3D , RENAL 3D and ABC 3D showed were significantly better accuracy to predict complications compared to PADUA 2D , RENAL 2D and ABC 2D . PADUA 3D (OR: 1.66), RENAL 3D (OR: 1.69) and ABC 3D (OR: 2.44) revealed a significant correlation with postoperative complications (all P ≤0.03)., Conclusion: Nephrometry scores calculated via 3D models predict complications after RAPN with higher accuracy than conventional 2D imaging., Competing Interests: Conflict of interest None, (Copyright © 2021 Elsevier Inc. All rights reserved.)

Background: We aim to evaluate the impact of multiparametric magnetic resonance imaging and fusion-target biopsy for early reclassification of patients with low-risk Prostate Cancer in a randomized trial., Materials and Methods: Between 2015 and 2018, patients diagnosed with Prostate Cancer after random biopsy fulfilling PRIAS criteria were enrolled and centrally randomized (1:1 ratio) to study group or control group. Patients randomized to study group underwent multiparametric magnetic resonance imaging at 3 months from enrollment: patients with positive findings (PIRADS-v2>2) underwent fusion-target biopsy; patients with negative multiparametric magnetic resonance imaging or confirmed ISUP - Grade Group 1 at fusion-target biopsy were managed according to PRIAS schedule and 12-core random biopsy was performed at 12 months. Patients in control group underwent PRIAS protocol, including a confirmatory 12-core random biopsy at 12 months. Primary endpoint was a reduction of reclassification rate at 12-month random biopsy in study group at least 20% less than controls. Reclassification was defined as biopsy ISUP Grade Group 1 in >2 biopsy cores or disease upgrading., Results: A total of 124 patients were randomized to study group (n = 62) or control group (n = 62). Around 21 of 62 patients (34%) in study group had a positive multiparametric magnetic resonance imaging, and underwent fusion-target biopsy, with 11 (17.7%) reclassifications. Considering the intention-to-treat population, reclassification rate at 12-month random biopsy was 6.5% for study group and 29% for control group, respectively (P < 0.001)., Conclusions: The early employment of multiparametric magnetic resonance imaging for active surveillance patients enrolled after random biopsy consents to significantly reduce reclassifications at 12-month random biopsy., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Introduction: The purpose of this study was to evaluate the impact of 3-dimensional (3D) digital reconstructions of renal models on the arterial clamping approach during partial nephrectomy (PN)., Patients and Methods: Fifty-seven patients with T1 renal mass, referred for PN, were prospectively enrolled in 2 groups: Group 1 (n = 32) with revision of both 2-dimensional (2D) computed tomography (CT) imaging and 3D virtual model before surgery; Group 2 (n = 25) with revision of 2D CT imaging. Segmentation of the 3D models from preoperative high-quality CT scan was achieved using D2P software. In a sub-analysis of patients treated with PN with the on-clamp approach (n = 36), the effective intraoperative level of arterial clamping was compared with the preoperative planning., Results: In the sub-group of patients referred to PN with the on-clamp approach, the intraoperative selective clamping was performed in 12 (57.1%) patients of Group 1 and in 2 (13.3%) cases of Group 2 (P = .01). The intraoperative management of the renal pedicle was done as preoperatively planned in 61.9% of patients in Group 1 and in 86.6% of cases in Group 2 (P = .1)., Conclusion: The 3D-guided plan of PN allows to perform selective clamping in higher proportion of patients compared with the standard 2D-guided approach without increasing intraoperative and postoperative complications., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Purpose: To evaluate the accuracy of 11 C-choline positron emission tomography (PET)/computed tomography (CT) for nodal staging of prostate cancer (PCa) in different populations of high-risk patients., Patients and Methods: We evaluated 262 individuals with intermediate- or high-risk PCa submitted to radical prostatectomy and extended pelvic lymph node dissection. Within men with high-risk disease, we identified a subgroup of individuals harboring very high-risk (VHR, n = 28) disease: clinical stage ≥ T2c and more than 5 cores with Gleason score 8-10; primary biopsy Gleason score of 5; 3 high-risk features; or prostate-specific antigen ≥ 30 ng/mL. The diagnostic accuracy of PET/CT and contrast-enhanced CT (CECT) was assessed after stratifying patients according to risk group classification on a patient- and anatomic region-based analysis., Results: On patient-based analysis, considering high-risk patients (n = 155), 11 C-choline PET/CT versus CECT had sensitivity and specificity of 50% and 76% versus 21% and 92%, respectively. Considering VHR men as separate subgroups (n = 28), 11 C-choline PET/CT versus CECT had sensitivity and specificity of 71% and 93% versus 25% and 79%, respectively. Accordingly, in the VHR category, the area under the curve of 11 C-choline PET/CT versus CECT was 0.86 (95% confidence interval, 0.71-1.0) versus 0.69 (95% confidence interval, 0.52-0.86), respectively. On anatomic region-based analysis, considering the VHR group, 11 C-choline PET/CT versus CECT had sensitivity and specificity of 70.6% and 95.5% versus 35.3% and 98.5%, respectively., Conclusion: Patients with VHR characteristics could represent the ideal candidate to undergo disease staging with PET/CT before surgery with the highest cost efficacy., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Introduction: We investigated the diagnostic performance of in-bore endorectal magnetic resonance imaging-guided biopsy (MRI-GB) with a 1.5-T MRI scanner using a 32-channel coil in patients with suspected prostate cancer (PCa)., Patients and Methods: Seventy patients with ≥ 1 suspicious area found on the preliminary multiparametric MRI scan were enrolled. The index lesion was defined as the lesion with the greatest Prostate Imaging Reporting and Data System, version 2 (PIRADS-v2), score. MRI-GBs were performed with a nonmagnetic biopsy device, needle guide, and titanium double-shoot biopsy gun with dedicated software for needle tracking. Clinically significant PCa was defined as the presence of Gleason score ≥ 7 in the biopsy specimen., Results: Seventy index lesions were scheduled for MRI-GB. The median PIRADS-v2 score and the median number of cores per patient was 4 of 5 (interquartile range, 3-5) and 2 (interquartile range, 1-3), respectively. The PCa detection rate was 45.7%. Of the 70 patients, 24 (75%) had clinically significant PCa, with a significant correlation between the PIRADS-v2 score and the Gleason score in the MRI-GB cores (r = 0.839; 95% confidence interval, 0.535-0.951; P = .003). According to the PIRADs-v2 scheme, the proportion of PCa in the central and anterior regions of the gland was greater in the entire population and in the subgroup of patients with a history of negative transrectal ultrasound-guided biopsy findings (P ≤ .01 for all). On multivariate analysis, a PIRADS-v2 score of 5 of 5 correlated significantly with the likelihood of PCa at biopsy (hazard ratio, 4.69; 95% confidence interval, 0.92-23.74; P = .04). No major complications were recorded., Conclusion: MRI-GB has a high detection rate for PCa, especially for lesions located in the central and anterior regions of the prostate., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Background: The aim of this study was to evaluate the incidence of malignancy in small testicular masses (STMs) treated with testis-sparing surgery (TSS) with intraoperative frozen section analysis and to assess the safety of this surgical procedure., Patients and Methods: From January 2009 to January 2013, 15 consecutive patients underwent TSS for STMs in a third-referral academic institution. Every patient was preoperatively evaluated with clinical examination and scrotal ultrasonography (US) performed by the same radiologist. Tumor markers were assessed in all cases. All the procedures were performed through inguinal access; the small mass was identified by straight palpation of the testis or with intraoperative ultrasonography (IUS). Frozen-section examination (FSE) was performed in all patients in association with multiple biopsies of the surrounding tissue. Follow-up was carried out in all patients with an ultrasonographic exploration at 6 and 12 months., Results: Preoperative tumor markers were normal in all patients. The mean operative time was 90 ± 31 minutes. The warm ischemia time was 18 ± 3 minutes. The mean size on US was 9.5 ± 4.4 mm. FSE results were confirmed by the final pathologic analysis in 14 patients. At final pathologic analysis, 6 patients (40%) were found not to have tumors, another 7 patients (46.7%) had benign neoplasms, and malignant tumor was found in only 2 patients (13.3%). There was no disease recurrence after a mean follow-up of 19.2 ± 11.5 months., Conclusion: Our experience shows that TSS performed for STMs may represent a safe procedure with optimal results in terms of functional and oncologic end points., (Copyright © 2013 Elsevier Inc. All rights reserved.)

The authors report a case of unilateral xanthogranulomatous pyelonephritis, associated with chronic lithiasis studied by standard clinical magnetic resonance imaging protocol and diffusion tensor imaging (DTI). Maps of apparent diffusion coefficient (ADC) and fractional anisotropy (FA) and tractography were reconstructed on both healthy and pathologic kidney. ADC and FA values are in agreement with the literature. Tractography reconstruction of tubular renal architecture was confirmed by histology. This result suggests the potential ability of DTI to detect structural alterations in the architecture of the kidney, as noninvasive tool, preceding the onset of clinical-laboratory alterations., (Copyright © 2011 Elsevier Inc. All rights reserved.)

21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia, an autosomal recessive disorder characterized by impaired synthesis of cortisol from cholesterol by the adrenal cortex. Subclinical involvement of brain white matter has been reported in subjects with congenital adrenal hyperplasia. Here we report a woman with a genetically assessed classic congenital adrenal hyperplasia and brain white matter abnormalities. Both the carrier parents also showed signs of leucoencephalopathy. Common causes of leukoencephalopathy were excluded by appropriate analyses. Our observation suggests that white matter anomalies may also be present in carriers of a mutation in the CYP21 gene. We therefore suggest performing CYP21 gene analysis in subjects with brain MRI evidence of white matter abnormalities that cannot otherwise be explained., (Copyright 2009. Published by Elsevier B.V.)

We sequenced all genes of mitochondrial tRNAs of a patient with chronic progressive external ophthalmoplegia with 5% ragged red fibres and 15% COX-negative fibres but without macrorearrangements of mitochondrial DNA (mtDNA). Direct sequencing showed a novel heteroplasmic G>A substitution in position 12316 of tRNA(Leu(CUN)) gene. This change destroys a highly conserved G-C base coupling in tRNA TpsiC branch. By RFLP analysis we could demonstrate different degrees of heteroplasmy in different patient's tissues. This alteration, absent in a population of 110 patients with different encephalomyopathies, can be considered pathogenic: it is the tenth tRNA(Leu(CUN)) pathogenic mutation described up to date.

A new association of Vanishing White Matter (VWM) and premature ovarian failure (POF) was recently described as a sole entity called ovarioleukodystrophy. Seven out of eight patients reported by Fogli et al. had translation initiation factor (eIF2B) mutations, specific to the VWM. The only patient without mutations had a distinctive neurological presentation that included cognitive deterioration without motor signs and white matter abnormalities restricted to the frontal lobe. We describe here a case suggestive of ovarioleukodistrophy carrying no eIF2B mutations.

We report a 36-year-old patient with 46XY pure gonadal dysgenesis (GD), who manifested a syndrome of progressive motor-sensory neuropathy. Sural nerve biopsy showed severe axonal neuropathy. Since reported cases of chronic motor-sensory neuropathy and pure gonadal dysgenesis have been characterized by nerve biopsy evidence of minifascicle formation, we suggest that this clinical association may be a new type of hereditary motor-sensory neuropathy, not necessarily associated with minifascicle formation.

We report the case of a 41-year-old patient with bilateral hemorrhage of the thalamus, leading to death. Post-mortem examination showed acute myocarditis. Neuropathological study showed perivascular infiltrates in affected thalamic regions. Laboratory investigation failed to find any causal agent. We hypothesize an infective agent, affecting the heart and thalamus, as the cause of this syndrome. Diaschisis due to the strategic anatomical position of the thalamus may have been responsible for coma state and death.

Background/aims: This study was aimed to determine whether host-dependent genetic factors modulate the outcome of HCV infection., Methods: HLA class II DRB and DQB typing was performed in 184 infected patients and 200 healthy volunteers. Among the patients, 149 subjects had persistent HCV viremia (Group 1) and 35 subjects underwent spontaneous viral clearance (Group 2). Group 1 included cirrhotic patients with transfusion-acquired infections (n = 79), asymptomatic HCV carriers (n = 42), and patients with chronic hepatitis C responsive to interferon therapy (n = 28)., Results: Spontaneous viral clearance was associated with HLA DRB1*1104 (pc = 0.054, OR = 4.51, 95% C.I. 2.02-10.1) and HLA DQB1*0301 (pc = 0.0039, OR = 4.52, 95% C.I. 2.15-9.51). In Group 1 the haplotype DRB1*1104/DQB1*0301 was less frequent (4.8%) than in Group 2 (18.3%) (pc = 0.009, OR = 7.38, 95% C.I. 2.58-21.59). At the HLA level, cirrhotic patients were not different from asymptomatic HCV carriers and patients with interferon-induced viral clearance. In cirrhotic patients infected with genotype 1b, the DQB1*0502 allele was more frequently found in those with rapidly progressive liver damage (OR = 8.15, 95% C.I. 1.49-44.44), but the corrected p-value was not significant (pc = 0.09)., Conclusions: The HLA haplotype DRB1*1104/DQB1*0301 appears to contribute to the spontaneous clearance of HCV infection. The predominance of the DQB1*0502 allele in cirrhotic patients with a rapidly progressive disease possibly reflects an influence of this allele on the progression of the HCV-related liver disease.