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The clinical features of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis (COACH) characterize the rare autosomal recessive multisystem disorder called COACH syndrome. COACH syndrome belongs to the spectrum of Joubert syndrome and related disorders (JSRDs) and liver involvement distinguishes COACH syndrome from the rest of the JSRD spectrum. Developmental delay and oculomotor apraxia occur early but with time, these can improve and may not be readily apparent or no longer need active medical management. Congenital hepatic fibrosis and renal disease, on the other hand, may develop late, and the temporal incongruity in organ system involvement may delay the recognition of COACH syndrome. We present a case of a young adult presenting late to a Renal Genetics Clinic for evaluation of renal cystic disease with congenital hepatic fibrosis, clinically suspected to have autosomal recessive polycystic kidney disease. Following genetic testing, a reevaluation of his medical records from infancy, together with reverse phenotyping and genetic phasing, led to a diagnosis of COACH syndrome.

Objective: The American College of Radiology Thyroid Imaging Reporting and Data System (ACR TI-RADS) is a reporting system for thyroid nodules detected with sonography and proposed by the ACR. The scoring of punctate echogenic foci (PEF) increases the TI-RADS score and leads to a biopsy of many thyroid nodules, otherwise found clinically. The aim of this study was to assess the risk of malignancy for mixed and solid nodules, with and without PEF, and cytologic correlation. Materials and Methods: Thyroid sonograms and ultrasound-guided thyroid biopsies were performed, at a University of Iowa Hospitals & Clinics for 105 patients, during July 2019 to June 2020. All these retrospective clinical studies were reviewed against the cytologic examinations. Results: Based on the 189 thyroid nodule biopsies reviewed, 82.5% were benign compared with 17.5% malignant lesions. A solid nodule composition was noted in 35.2%, and had a higher risk for malignancy, compared with 7.7% of the mixed nodules. There was a 33.3% incidence of malignancy for solid nodules with PEF, compared with 35.8% of lesions lacking PEF. For mixed nodules, 6.2% nodules demonstrated PEF and 7.7% of nodules, without PEF, were malignant. Conclusion: In this cohort, solid nodules had a higher risk of malignancy than mixed nodules. PEF did not increase the risk of malignancy in either solid or mixed thyroid nodules, in these patients. These findings would suggest that existing guidelines may overestimate the value of PEF in scoring, as well as determining which thyroid nodules require biopsy.

Objectives: The objectives of the study were to assess the technical success, efficacy, and complications of the combination of transarterial embolization (TAE) followed by percutaneous ablation in treating stage cT1b and central renal tumors. Material and Methods: An institutional registry was reviewed for patients who underwent TAE followed by percutaneous computed tomography (CT)-guided renal ablation from 2007 to 2018. Twenty-eight consecutive patients (median age 69 years; range 45–89 years) with tumor size ranging from 25 to 58 mm (average 45 mm), including 24 patients with T1b tumors and four with central T1a tumors, were identified. Nineteen patients had TAE followed by cryoablation (CA), and nine patients had TAE followed by radiofrequency ablation (RFA). Technical success, local tumor control, and post-procedure complications were retrospectively reviewed. Results: All procedures were technically successful. Local tumor control was achieved in 26 of 28 patients (92.9%) at a median follow-up of 26 months. Local tumor recurrence was found in two of 28 patients, with a median time to local recurrence of 15 months. The recurrences occurred in one patient who had TAE plus CA and in one patient who had TAE plus RFA. Self-limited hematoma and hematuria were minor complications observed in 3 patients (10.7%). Only one patient had a major complication. This patient developed ureteral obstruction and perirenal abscess requiring ureteral stent and percutaneous drainage without long-term sequela. Conclusion: In this cohort of patients, a combination of TAE and percutaneous CT-guided ablation was an effective, well-tolerated, and safe treatment for patients with T1b and central renal tumors.

Rationale and Objectives Image distortion on diffusion-weighted imaging (DWI) of the prostate in 3T endorectal magnetic resonance imaging (MRI) examinations is common. The aim of this study was to determine the degree of distortion on DWI using a state-of-the-art clinical protocol and to explore the main contributors to geometric distortion. Materials and Methods Forty consecutive patients underwent 3T MRI of the prostate with an endorectal coil filled with air (n = 20) or barium sulfate (n = 20). Distortion was measured as the maximum displacement of the outer boundary of the prostate on DWI relative to T2-weighted imaging. The effects of phase-encoding direction, receiver bandwidth, and parallel imaging were then assessed in a prostate phantom on two MRI scanners from different manufacturers. Results There was no statistical difference in the mean displacement of the prostate on DWI between the air cohort (1.8 ± 1.2 mm, range 0–4.2 mm) and barium cohort (1.8 ± 2.2 mm, range 0–9 mm). Displacement of the prostate was observed in the phase-encoding direction. Phantom experiments demonstrated a horizontal displacement of 6.0 mm in the phase-encoding direction, which decreased with the use of parallel imaging and higher bandwidth. Geometric distortion was similar for all b values and across manufacturers. Conclusions Geometric distortion on DWI of the prostate is common in the phase-encoding direction and does not improve with inflating the coil with barium sulfate. Strategies to reduce this artifact include the use of higher bandwidth and accelerated imaging. Correction of this phenomenon should improve localization of prostate cancer, particularly important for targeted prostate biopsies or focal therapies.

A ressonância magnética é ferramenta importante para a detecção e caracterização dos tumores adrenais. O conhecimento das diferentes apresentações dos tumores primários e secundários à ressonância magnética e sua correlação com dados da histologia são essenciais para o correto raciocínio diagnóstico. Este artigo revisa os aspectos que podem estreitar o diagnóstico diferencial dos tumores adrenais, dando ênfase à correlação histológica daqueles mais comuns.Magnetic resonance imaging is an important tool for the detection and characterization of adrenal tumors. The knowledge about the different presentations of primary and secondary adrenal tumors at magnetic resonance imaging and their correlation with histological data are essential for the establishment of a correct diagnosis. The present study reviews magnetic resonance imaging aspects which may narrow the differential diagnosis of adrenal tumors, emphasizing the histological correlation of the most frequent ones.

Cancer of the prostate gland is a common but heterogeneous disease requiring individualized risk stratification for optimal clinical management. However, transrectal ultrasonography (US)-guided biopsy-the standard of care for diagnosis of prostate cancer-frequently fails to detect aggressive tumors or provide reliable parameters for pretreatment risk stratification. Multiparametric magnetic resonance (MR) imaging is the most accurate imaging technique for prostate cancer detection and local staging. Recently, different approaches have been developed to allow targeted biopsies of areas that are suspicious for cancer at MR imaging, including direct MR imaging guidance and MR imaging-transrectal US fusion, which can be achieved with cognitive fusion or software assistance. Regardless of the technique used, targeted prostate biopsies have the potential to increase detection of clinically relevant prostate cancer and provide more reliable risk stratification in patients with known cancer. The authors discuss the shortcomings of traditional diagnostic workup for prostate cancer, the rationale for targeted prostate biopsies, the different techniques available for targeting suspicious areas seen at MR imaging, and the clinical contexts in which targeted prostate biopsies might be useful. In addition, they discuss opportunities and challenges associated with MR imaging-transrectal US fusion biopsy, as well as questions that need to be addressed before formal incorporation of this technique into practice guidelines.

A ressonância magnética é ferramenta importante para a detecção e caracterização dos tumores adrenais. O conhecimento das diferentes apresentações dos tumores primários e secundários à ressonância magnética e sua correlação com dados da histologia são essenciais para o correto raciocínio diagnóstico. Este artigo revisa os aspectos que podem estreitar o diagnóstico diferencial dos tumores adrenais, dando ênfase à correlação histológica daqueles mais comuns.