Search Results (169)

Background and clinical significance: Ectopic ureters are a rare urinary tract malformation, typically diagnosed in childhood and infrequently in adulthood. The prenatal detection by ultrasound and magnetic resonance imaging (MRI) of this clinical entity has scarcely been reported. Careful foetal scanning during the late second and third trimester might provide clues and lead to prenatal detection. However, even the postnatal diagnosis is challenging, and often delayed towards adulthood, since the condition may present with nonspecific symptoms, leading to underdiagnosis or misdiagnosis. In female patients, approximately 25% of ectopic ureters open into the vagina. Due to the high risk of recurrent urinary tract infections and the potential development of uretero-hydronephrosis, timely diagnosis is essential, and prompt surgical correction is mandated. Case presentation: We report the case of a 33-year-old GII PI patient diagnosed with cystic dysplasia of the left foetal kidney at the 16 WG (weeks of gestation) scan. The malformation was consistent at 21 WG when karyotyping by amniocentesis identified a normal female molecular karyotype. MRI performed at 28 weeks confirmed the left renal dysplasia and raised the suspicion of an abnormal insertion of the left ureter into the vagina. After delivery, the vaginal ureteral ectopy was confirmed at 3 weeks postpartum via cystoscopy. Postpartum whole exome sequencing identified a variant of uncertain significance (VUS) mutation in the SOX 13 gene (SRY-box transcription factor 13). Renal scintigraphy performed 7 months postnatally identified a hypo/afunctional left kidney which led to the indication of nephrectomy by the paediatric urologist. The surgical intervention was performed at 8 months postpartum with a favourable outcome. Conclusions: Ectopic ureters are a pathology generating life-long morbidity and discomfort of the offspring and young adult. Awareness to this pathology must be raised among clinicians, especially regarding the potential detection by minute prenatal ultrasound examinations, followed by MRI to refine diagnosis. Postnatally, the persistence of suspicious yet unspecific symptoms, in both males and females, must trigger thorough imaging/cystoscopic examination to reach diagnosis and provide correct management. Full article

Introduction: Ureteral stents are widely used in the specialty of urology to preserve renal function and provide ureteral patency in cases of urolithiasis, strictures, malignancy, and trauma. This paper presents a novel application of prophylactic ureteral stents deployed under MRI-guidance for ureteral protection in the setting of in-bore salvage cryoablation therapy for recurrent and metastatic prostate cancer. This is the first known case series of ureteral stent placement using near real-time MRI. Materials and Methods: A retrospective chart review was performed for all patients who underwent MRI-guided ureteral stent placement prior to in-bore cryoablation therapy from 2021 to 2022. Each case was managed by an interdisciplinary team of urologists and interventional radiologists. Preoperative and postoperative data were collected for descriptive analysis. Physics safety testing was conducted on the cystoscope and viewing apparatus prior to its implementation for stent deployment. Results: A total of seven males, mean age 73.4 years (range 65–81), underwent successful prophylactic, cystoscopic MRI-guided ureteral stent placement prior to cryoablation therapy of their prostate cancer. No intraoperative complications occurred. A Grade 2 postoperative complication of pyelonephritis and gross hematuria following stent removal occurred in one case. The majority of patients were discharged the same day as their procedure. Conclusions: This case series demonstrates the feasibility of in-bore cystoscopic aided MRI guidance for ureteral stent placement. Ureteral stents can be used to increase the safety margin of complex cryoablation treatments close to the ureter. Furthermore, by following the meticulous MRI safety protocols established by MRI facility safety design guidelines, MRI conditional tools can aid therapy in the burgeoning interventional MRI space. Full article

Background and Objectives: Non-invasive imaging biomarkers for the early detection of chronic kidney allograft injury are needed to improve long-term transplant outcomes. T1 mapping by magnetic resonance imaging (MRI) has emerged as a promising method to assess renal structure and function. This study aimed to determine the potential of MRI as a diagnostic tool for evaluating graft function and structural changes in kidney grafts 1 year after transplantation. Materials and Methods: Thirty-four kidney transplant recipients were prospectively recruited, with 27 completing the follow-up at one year. Renal MRI at 3T was performed to acquire T1, T2, and apparent diffusion coefficient (ADC) maps. Clinical parameters, including estimated glomerular filtration rate (eGFR), albumin-to-creatinine ratio (ACR), protein-to-creatinine ratio (PCR), and histological IF/TA scores, were collected. MRI parameters were compared across the groups stratified by clinical and histological markers. Diagnostic accuracy was assessed using receiver operating characteristic (ROC) analysis. Results: At 1 year, T1 corticomedullary differentiation (CMD) values were significantly higher in patients with elevated ACR (≥3 mg/mmol), PCR (≥15 mg/mmol), and mild to moderate or severe IF/TA, reflecting a reduction in the corticomedullary gradient. T1 CMD demonstrated moderate-to-good diagnostic performance in detecting ACR (AUC 0.791), PCR (AUC 0.730), and IF/TA (AUC 0.839). No significant differences were observed in T2 or ADC values across these groups. T1 CMD also showed a significant positive correlation with ACR but not with eGFR, suggesting a closer association with structural rather than functional deterioration. Conclusions: T1 mapping, particularly T1 CMD, shows promise as a non-invasive imaging biomarker for detecting chronic allograft injury and monitoring renal function 1 year after kidney transplantation. Full article

Hemolytic uremic syndrome (HUS), a thrombotic microangiopathy primarily affecting the kidneys, can also involve the central nervous system (CNS), often leading to significant morbidity and mortality. Neurologic manifestations are among the most severe extra-renal complications, particularly in children and during outbreaks of Shiga toxin-producing Escherichia coli (STEC)-associated HUS (typical (tHUS)). This review explores the clinical spectrum, pathophysiology, diagnostic workup, and age-specific outcomes of neurologic involvement in both typical (tHUS) and atypical (aHUS). Neurologic complications occur in up to 11% of pediatric and over 40% of adult STEC-HUS cases in outbreak settings. Presentations include seizures, encephalopathy, focal deficits, movement disorders, and posterior reversible encephalopathy syndrome (PRES). Magnetic resonance imaging (MRI) commonly reveals basal ganglia or parieto-occipital lesions, though subtle or delayed findings may occur. Laboratory workup typically confirms microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and kidney damage, with additional markers of inflammation or metabolic dysregulation. Eculizumab is the first-line treatment for aHUS with CNS involvement, while its utility in STEC-HUS remains uncertain. Although many children recover fully, those with early CNS involvement are at greater risk of developing epilepsy, cognitive delays, or fine motor deficits. Adults may experience lingering neurocognitive symptoms despite apparent clinical recovery. Differences in presentation and imaging findings between age groups emphasize the need for tailored diagnostic and therapeutic strategies. Comprehensive neurorehabilitation and long-term follow-up are crucial for identifying residual deficits. Continued research into predictive biomarkers, neuroprotective interventions, and standardized treatment protocols is needed for improving outcomes in HUS patients with neurological complications. Full article

Background/Objectives: Renal cell carcinoma (RCC) is a malignant disease that requires rapid and reliable diagnosis to determine the correct treatment protocol and to manage the disease effectively. However, the fact that the textural and morphological features obtained from medical images do not differ even among different tumor types poses a significant diagnostic challenge for radiologists. In addition, the subjective nature of visual assessments made by experts and interobserver variability may cause uncertainties in the diagnostic process. Methods: In this study, a deep learning-based hybrid model using multiphase magnetic resonance imaging (MRI) data is proposed to provide accurate classification of RCC subtypes and to provide a decision support mechanism to radiologists. The proposed model performs a more comprehensive analysis by combining the T2 phase obtained before the administration of contrast material with the arterial (A) and venous (V) phases recorded after the injection of contrast material. Results: The model performs RCC subtype classification at the end of a five-step process. These are regions of interest (ROI), preprocessing, augmentation, feature extraction, and classification. A total of 1275 MRI images from different phases were classified with SVM, and 90% accuracy was achieved. Conclusions: The findings reveal that the integration of multiphase MRI data and deep learning-based models can provide a significant improvement in RCC subtype classification and contribute to clinical decision support processes. Full article

Background: The term “fatty kidney” refers to the accumulation of fat within the kidney. There is no clear definition of a fatty kidney. In our previous study, we defined a fatty kidney as one with fat accumulation of more than 4% in the kidney as detected by magnetic resonance imaging (MRI). This condition is associated with renal inflammation and contributes to the development of kidney dysfunction. Fat accumulation in the kidney can be detected using imaging modalities such as computed tomography (CT) or MRI. Given the clinical importance of renal fat deposition, the aim of this review was to investigate how imaging findings in this condition correlate to disease prevalence and metabolic disorders. Methods: A systematic review was conducted in accordance with the PRISMA guidelines. The databases searched included PubMed, Scopus, Web of Science, and Cochrane Library up to August 2024. Studies employing MRI or CT for renal fat quantification were included. Data were extracted, and their quality was assessed using the QUADAS-2 tool. Results: Twenty-eight studies comprising 6994 participants met the inclusion criteria. Most studies used MRI (75%) for fat quantification, with CT limited to renal sinus evaluation. Renal fat fractions (FFs) ranged from 0.4% to 55.3%, with higher values consistently observed in individuals with obesity, diabetes, chronic kidney disease, and hypertension. A consistent positive association was observed between fatty kidney and fatty liver, suggesting shared pathogenic mechanisms. Conclusions: Fatty kidney appears to be a distinct and clinically relevant entity with strong links to metabolic dysfunction. Imaging-based quantification—particularly MRI—offers a promising tool for early detection, yet standardization is needed. The findings underscore the need for further research into fatty kidney as a modifiable risk factor for renal and cardiovascular disease. Full article

Ocular flutter is an uncommon ophthalmic finding that may indicate paraneoplastic phenomena, and it is clinically characterized by intermittent bursts of conjugate, horizontal saccades without an intersaccadic interval. Ocular flutter must be differentiated from opsoclonus, which, although also characteristic of certain paraneoplastic syndromes, is instead defined by multidirectional saccades on both the horizontal and vertical planes. This report describes a very rare presentation of anti-Ri syndrome in a patient with an undiagnosed breast cancer, presenting with ocular flutter, dizziness, blurred vision, photophobia, and vomiting. Comprehensive evaluations, including contrast-enhanced brain Magnetic Resonance Imaging (MRI), brain Computed Tomography (CT) scan, ophthalmological assessment, viral serology, complete blood count and thyroid, renal coagulation, hepatic function assessments, vitamin D and B12 levels, were all normal. Upon excluding other potential etiologies for the neurological symptoms, a paraneoplastic origin was considered. Serological tests confirmed the presence of anti-Ri onconeural antibodies, and a whole-body CT scan identified nodules in the right breast. Despite surgical excision of the primary tumor and subsequent medical therapy, there was no improvement in the neurological symptoms. Follow-up evaluations at 2 months, 6 months, 1 year and 2 years revealed persistent vestibular and neurological symptoms, with serum tests remaining positive for anti-Ri antibodies and no clinical or radiological evidence of neoplastic recurrence. Full article

Renal cell carcinoma (RCC) is a major global health issue with an increasing incidence and mortality rate. Current diagnostic methods are either invasive or limited in their ability to accurately differentiate between benign and malignant tumours and to predict early treatment response. This can lead to incorrect diagnosis, delayed treatment, patient anxiety, and suboptimal outcomes. RCC subtypes are known to exhibit distinct metabolic alterations, for example in glucose metabolism. These metabolic phenotypes offer potential targets for non-invasive imaging techniques to improve diagnosis and treatment, but current clinically available metabolic imaging tools such as ¹⁸F-FDG-PET and ^99mTc-sestamibi SPECT have limitations. Therefore, new approaches are required to assess this metabolism, and novel metabolic MRI techniques including hyperpolarised [1-¹³C]pyruvate MRI and deuterium metabolic imaging offer promising alternatives. These techniques are non-radioactive, demonstrate spatial metabolic heterogeneity, and can probe metabolic flux beyond tracer uptake. This review aims to explore the potential of metabolic MRI in the clinical management of RCC by (1) summarising current clinical guidelines; (2) reviewing metabolic heterogeneity across RCC subtypes; (3) discussing the potential of metabolic MRI to advance the understanding of in vivo metabolism; (4) and finally suggesting future directions for research in this field. Full article

Background: Continuous rise of type 2 diabetes mellitus (T2DM) global prevalence, has led to a subsequent increase in the prevalence of diabetic kidney disease (DKD). DKD is associated with higher levels of inflammation and impaired kidney function. Many patients do not receive adequate treatment for this condition. This research aims to evaluate the therapeutic impact of autologous dendritic cell transfer by examining its effects on renal microstructural changes as assessed through Diffusion Tensor Imaging (DTI) MRI, alongside the analysis of key inflammatory biomarkers, namely Matrix Metalloproteinase-9 (MMP-9) and Intercellular Adhesion Molecule-1 (ICAM-1). Methods: A clinical trial with an open-label design was performed with 25 DKD patients receiving outpatient care at Gatot Soebroto Army Hospital. Each participant was administered a single injection of autologous dendritic cells. Evaluations were conducted both prior to and one month following the treatment. The primary measurements included Diffusion Tensor Imaging (DTI) MRI-derived Fractional Anisotropy (FA) scans and the inflammatory biomarker MMP-9. Results: A notable increase in FA was observed, rising from 242.57 ± 63.97 at baseline to 305.61 ± 152.32 one month after the dendritic cell injection. However, there were no significant changes in MMP-9 and ICAM-1 levels. Additionally, a negative correlation was found between FA and MMP-9 (r = −0.324, p = 0.025). Conclusion: The transfer of autologous dendritic cells significantly enhanced FA, which correlates with a reduction in the inflammatory biomarker MMP-9, suggesting a potential impact on renal repair in DKD. Full article

Background/Objectives: Hyperprolinemia is a rare autosomal recessive disorder with two distinct types: I (HPI) and II (HPII). The clinical presentation varies widely, with some individuals remaining asymptomatic and others exhibiting neurological, renal, or auditory defects and seizures. However, it has never been associated with hypoglycemia. The present case report describes a 5-year and 6/12-month-old boy with HPII, with an episode of severe hypoglycemia and Pituitary Stalk Interruption Syndrome (PSIS) with isolated growth hormone (GH) deficiency (GHD). Results: The boy was presented to the Department of Pediatric Endocrinology for routine thyroid function assessment due to hypothyroidism. He was diagnosed with HPII at the age of 2 years old during an investigation for seizure episodes. Clinically, the boy exhibited attention deficit hyperactivity disorder (ADHD) and a reduction in growth velocity (1.6 cm/year). Hematological and biochemical analyses were within the reference range. Hormone profiling revealed lower-than-expected insulin-like growth factor-1 (IGF-1) concentrations, prompting a GH stimulation test, which, in turn, revealed GHD. Brain magnetic resonance imaging (MRI) showed features consistent with PSIS. Noteworthy is the occurrence of severe hypoglycemia during an episode of gastroenteritis, leading to hospitalization, eventually attributed to GHD. Following the exogenous administration of recombinant human GH, the boy exhibited increased growth velocity, with no adverse events over the follow-up period. Conclusions: Hyperprolinemia is a rare condition; in this context, the occurrence of severe hypoglycemia accompanied by a low growth velocity poses a challenge for the clinical pediatrician. Furthermore, the coexistence of hyperprolinemia and PSIS has never been reported in the literature thus far. Full article

Background/Objectives: Anastomosing hemangioma (AH) is a rare, benign vascular tumor predominantly found in the genitourinary tract and often associated with impaired renal function. Due to its nonspecific radiological features, AH is frequently misinterpreted as a malignant vascular neoplasm, particularly angiosarcoma (AS), leading to potentially unnecessary surgical interventions. This study presents a systematic review of AH cases and describes a rare instance of retroperitoneal AH arising from the left gonadal vein, which was resected due to diagnostic uncertainty. Methods: A 68-year-old man underwent imaging for benign prostatic hyperplasia, incidentally revealing a 15-mm hypervascular retroperitoneal nodule adjacent to the left psoas muscle. Imaging findings, including moderate metabolic uptake on 18FDG-PET/CT, raised suspicion for AS. Given the diagnostic uncertainty and high-risk location, the multidisciplinary team (MDT) recommended surgical resection. Laparoscopic excision was performed, and histopathological analysis confirmed AH. The patient remained asymptomatic at a 22 month follow-up. In addition, a systematic review of 159 cases from 64 studies (2009–2024) was conducted to analyze radiological features, treatment approaches, and outcomes. Results: Among the reviewed cases, 68% were incidentally diagnosed, with AH occurring predominantly in the genitourinary system (70%), especially in the kidney, adrenal gland, and ovary. Chronic kidney disease (CKD) was present in 23.3% of cases, while 19.5% had a history of malignancy. Imaging was inconclusive in differentiating AH from malignancies: CT (71.9%) and MRI (6.1%) were the most used modalities, but none could reliably exclude AS. Management strategies included upfront surgical resection in 85%, while a growing proportion (9%) of cases underwent biopsy-based observation rather than immediate surgery. No cases were followed with imaging alone. Conclusions: AH remains a diagnostic challenge due to its overlap with malignant vascular tumors. While surgical excision is often performed, our review highlights an increasing trend toward conservative management with biopsy-based diagnosis. Improved awareness and the integration of histopathology, molecular markers, and MDT-based decision-making are crucial to prevent overtreatment in cases of suspected AH. Full article

Background and Objectives: Diagnostic imaging is essential for evaluating urinary tract disorders, offering critical insights into renal pathology. This review examines the strengths, limitations, and clinical applications of various imaging modalities, with a focus on pediatric populations. Materials and Methods: A narrative review was conducted, synthesizing current literature on ultrasound (US), computed tomography (CT), magnetic resonance imaging (MRI), nuclear medicine, and voiding cystourethrography (VCUG). Relevant studies were selected based on diagnostic accuracy, clinical utility, and safety considerations. Results: US is the preferred first-line imaging due to its safety, accessibility, and cost-effectiveness. CT excels in detecting renal calculi, trauma, and malignancies but is limited by radiation exposure. MRI offers superior soft tissue contrast without radiation but is costly and often requires sedation. Nuclear medicine evaluates renal function and scarring, while VCUG remains the gold standard for diagnosing vesicoureteral reflux and posterior urethral valves. Conclusions: Imaging modalities are vital for diagnosing and managing urinary tract disorders, with selection based on clinical needs, patient age, and safety. Ultrasound is the primary choice for its non-invasiveness and cost-effectiveness, while CT, MRI, nuclear medicine, and VCUG provide essential structural and functional insights. A balanced approach ensures accuracy while minimizing patient risk, especially in pediatrics. Full article

Objectives: To describe the US, CEUS, CT, and MRI features of papillary renal cell carcinoma (PRCC) and to underline the imaging characteristics that are helpful in the differential diagnosis. Methods: Patients with histologically proven papillary renal cell carcinoma who underwent at least two imaging examinations (US, CEUS, CT, and MRI) were included in the study. Tumor size, homogeneity, morphology, perilesional stranding, contrast enhancement locoregional extension were assessed. A comparison and the characteristics of the imaging features for each imaging modality were analyzed. Results: A total of 27 patients with an histologically confirmed diagnosis of PRCC were included in the study. US was highly accurate in distinguishing solid masses from cystic masses, supporting the differential diagnosis of PRCC, as well as in patients with a poor representation of the solid component. CEUS significantly increased diagnostic accuracy in delineating the solid intralesional component. Furthermore, when using CEUS, in the arterial phase, PRCC exhibited hypo-enhancement, and in the late phase it showed an inhomogeneous and delayed wash-out compared with the surrounding renal parenchyma. At MRI, PRCC showed a marked restiction of DWI and was hypointense in the T2-weighted compared to the renal parenchyma. Conclusions: In our study, the characteristic hypodensity and hypoenhancement of PRCC make CT the weakest method of their recognition, while US/CEUS and MRI are necessary to reach a definitive diagnosis. Knowledge of the appearance of PRCC can support an early diagnosis and prompt management, and radiologists should be aware that PRCC, when detected using CT, may resemble spurious non-septate renal cyst. Full article

Background: While gallium-68 has traditionally dominated PET imaging in oncology, copper radionuclides have sparked interest for their potential applications in nuclear medicine and theranostics. Considering the advantageous physical decay properties of copper-61 compared to those of gallium-68, we describe a fully automated GMP-compliant synthesis process for ⁶¹Cu-based radiopharmaceuticals and demonstrate their in vivo application for targeting the overexpressed PSMA by PET/MR imaging. Methods: Copper-61 was obtained through the irradiation of natural zinc liquid targets in a biomedical cyclotron. [⁶¹Cu]Cu-DOTAGA-PSMA-I&T and [⁶¹Cu]Cu-NODAGA-PSMA-I&T were produced without manual intervention in two Synthera^® Extension modules. Radiochemical purity was analyzed by radio-HPLC and iTLC. Cellular uptake was evaluated in LNCaP and DU145 cells. In vivo PET/MRI was performed in control mice to evaluate the biodistribution of both radiopharmaceuticals, and in tumor-bearing mice to assess the targeting ability towards PSMA. Results: The fully automated process developed proved to be effective for the synthesis of ⁶¹Cu-based radiopharmaceuticals, with appropriate molar activities. The final products exhibited high radiochemical purity (>98%) and remained stable for up to 6 h after the EOS. A time-dependent increase in cellular uptake was observed in LNCaP cells, but not in DU145 cells. As opposed to [⁶¹Cu]Cu-NODAGA-PSMA-I&T, [⁶¹Cu]Cu-DOTAGA-PSMA-I&T exhibited poor kinetic stability in vivo. Subsequent PET/MR imaging with [⁶¹Cu]Cu-NODAGA-PSMA-I&T showed tumor uptake lasting up to 4 h post-injection, predominant renal clearance, and no detectable accumulation in non-targeted organs. Conclusions: These results demonstrate the feasibility of the implemented process, which yields adequate amounts of high-quality radiopharmaceuticals and can be adapted to any standard production facility. This streamlined approach enhances reproducibility and scalability, bringing copper-61 closer to widespread clinical use, to the detriment of the conventionally accepted gallium-68. Full article

Background/Objectives: Fabry disease (FD) is an inborn error of the glycosphingolipid metabolism with variable kidney, heart, and central nervous system (CNS) involvement. CNS-related FD manifestations include early ischemic stroke and white matter lesions (WMLs) related to cerebral small-vessel disease (CSVD), possibly resulting in cognitive impairment. We studied 40 adult FD patients (17 male) to assess: (i) prevalence of cerebrovascular and cognitive manifestations in FD and their correlation with heart and renal involvement; and (ii) the potential value of serum neurofilament light chain (NfL) levels as an indicator of WMLs in FD. Methods: Patients underwent detailed diagnostic assessment related to FD, also including Mainz Severity Score Index (MSSI), neuropsychological tests, brain MRI to assess WMLs by the modified Fazekas score (mFS), and NfL determination by single-molecule array (SiMoA) (n = 22 FD patients vs. 15 healthy controls). Results: Overall, 4 FD patients had a history of ischemic stroke and 13/32 patients (40.6%) had an mFS ≥ 1. Almost two-thirds of FD patients (27/39, 69.2%) showed impairment on at least one cognitive test. On univariate analysis, only a reduction in estimated glomerular filtration rate was associated with an increased likelihood of having WMLs on brain MRI. Serum NfL levels were higher in FD patients vs. controls, with a trend toward significance (p = 0.08). Conclusions: Mild-to-moderate CSVD is a characteristic brain “signature” in FD patients. Both cardiac and renal involvement correlate with WML load, but only renal involvement appears to be predictive of CNS damage. Brain microvascular damage is associated with mild cognitive impairment in FD, and serum NfL might represent a potential biomarker of CSVD in FD. Full article