Concordance Between the Expert Reading of Biparametric-MRI and the Nonexpert Multiparametric-MRI for the Detection of Clinically Significant Prostate Cancer: Clinical Implications.

Purpose: Prostate-magnetic resonance imaging (MRI) interpretation is challenging, with expertise playing a crucial role. Biparametric MRI (bpMRI) is gaining popularity in experienced centers due to its time and cost advantages over multiparametric MRI (mpMRI). We aim to analyze concordance between nonexpert radiologist PI-RADS from mpMRI and expert radiologist PI-RADS from bpMRI, and its clinical implications.

The effectiveness of mapping-targeted biopsies on the index lesion in transperineal prostate biopsies.

Purpose: To evaluate the effectiveness of mapping-targeted biopsies (MTB) on the index lesion for the detection of clinically significant prostate cancer (csPCa) in transperineal fusion-image prostate biopsies.

Materials And Methods: A retrospective analysis was conducted on 309 men with suspected PCa who underwent prostate biopsies at the Creu Blanca reference center in Barcelona, Spain. The Prostate Imaging-Reporting and Data System (PI-RADS v.

A Systematic Review of the Current Status of Magnetic Resonance-Ultrasound Images Fusion Software Platforms for Transperineal Prostate Biopsies.

Unlabelled: Given this new context, our objective is to recognize the suitability of the currently available software for image fusion and the reported series using the transperineal route, as well as to generate new evidence on the complementarity of the directed and systematic biopsies, which has been established through the transrectal approach.

Evidence Acquisition: This systematic review, registered in Prospero (CRD42022375619), began with a bibliographic search that was carried out in PubMed, Cochrane, and Google Scholar databases. The Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) criteria and the studied eligibility based on the Participants, Intervention, Comparator, and Outcomes (PICO) strategy were followed.

International Multi-Site Initiative to Develop an MRI-Inclusive Nomogram for Side-Specific Prediction of Extraprostatic Extension of Prostate Cancer.

Background: To develop an international, multi-site nomogram for side-specific prediction of extraprostatic extension (EPE) of prostate cancer based on clinical, biopsy, and magnetic resonance imaging- (MRI) derived data.

Methods: Ten institutions from the USA and Europe contributed clinical and side-specific biopsy and MRI variables of consecutive patients who underwent prostatectomy. A logistic regression model was used to develop a nomogram for predicting side-specific EPE on prostatectomy specimens.

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset hypotonia and diverse psycho-motor and behavioural features. To date, fewer than 200 cases have been published. We report the clinical and molecular characterization of a Spanish MDS cohort that included 19 boys and 2 girls.

Magnetic resonance imaging for prostate cancer before radical and salvage radiotherapy: What radiation oncologists need to know.

External beam radiotherapy (EBRT) is one of the principal curative treatments for patients with prostate cancer (PCa). Risk group classification is based on prostate-specific antigen (PSA) level, Gleason score, and T-stage. After risk group determination, the treatment volume and dose are defined and androgen deprivation therapy is prescribed, if appropriate.

Multiparametric magnetic resonance imaging and prostate cancer: what's new?

Prostatic multi-parametric magnetic resonance imaging (MP-MRI) has recently had a wide development becoming a key tool in the diagnostic and therapeutic decisions in prostate cancer (Pca). The fast development both in technology and in reading (PIRADS V2) requires a continuous updating of knowledge within this area. The aim of this article is to present an updated revision of technical aspects, reading patterns and prostatic MP-MRI in Pca, with a multidisciplinary approach.

Magnetic resonance imaging in the new paradigm for the diagnosis of prostate cancer.

For various reasons, prostate cancer is a major public health problem. It is a very common cancer, but has a very low mortality rate because it comprises two types of disease: one insignificant, indolent, and much more common, and the other aggressive, significant, and much less common. The routine diagnostic approach to prostate cancer has been systematic blind biopsies, which has low detection rates and might detect low risk, insignificant prostate cancer, leading to overdiagnosis and overtreatment of indolent cancers.

Questions and answers on prostate multiparameter magnetic resonance imaging: Everything a urologist should know.

Context: For many years, the detection of prostate cancer (PC) and the management of its therapy have been based primarily on prostate-specific antigen, rectal examination and prostate biopsy. However, these parameters have known limitations. Multiparametric magnetic resonance imaging (mpMRI) for prostate cancer has undergone extensive development in recent years, providing morphological and functional information.

A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability.

Most apparent balanced chromosomal inversions are usually clinically asymptomatic; however, infertility, miscarriages, and mental retardation have been reported in inversion carriers. We present a small family with a paracentric inversion 1q42.13q43 detected in routine prenatal diagnosis.

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.

Background: Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), while mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). PKD1 lays immediately adjacent to TSC2 and deletions involving both genes, the PKD1/TSC2 contiguous gene syndrome (CGS), are characterized by severe ADPKD, plus TSC. mTOR inhibitors have proven effective in reducing angiomyolipoma (AML) in TSC and total kidney volume in ADPKD but without a positive effect on renal function.

An international multicenter comparison of time-SLIP unenhanced MR angiography and contrast-enhanced CT angiography for assessing renal artery stenosis: the renal artery contrast-free trial.

Objective: The unenhanced MR angiography (MRA) technique time-spatial labeling inversion pulse (time-SLIP) may provide a safe alternative for evaluating the renal arteries for stenosis. This international multicenter trial tested the hypothesis that time-SLIP unenhanced MRA is accurate and robust for assessing the renal arteries for stenosis in comparison with contrast-enhanced CT angiography (CTA).

Subjects And Methods: Four centers (United States, Europe, Asia) enrolled 75 patients (average age ± SD, 58 ± 13 years; 41 [55%] men and 34 [45%] women).

Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration.

We present a clinical and molecular cytogenetic characterization of two new patients with a complex supernumerary marker consisting of the entire short arm of chromosome 18 with a chromosome 13/21 centromere. One patient is a girl with a nonsyndromic intellectual disability and the second is a prenatally diagnosed fetus. To our knowledge, these are the fourth and fifth such cases to be described in the literature, suggesting the existence of a possible recurring constitutional structural chromosome abnormality.

Supernumerary ring chromosome: an etiology for Pallister-Killian syndrome?

Characterization of marker chromosomes before the introduction of array CGH (aCGH) assays was only based on their banding patterns (G, C, and NOR staining) and fluorescent in situ hybridization techniques. The use of aCGH greatly improves the identification of marker chromosomes in some cases. We describe an atypical case of Pallister-Killian syndrome (PKS) detected at prenatal diagnosis with a very unusual cytogenetic presentation: a supernumerary ring chromosome including two copies of 12p.

Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a two years trial.

Background: Tuberous sclerosis (TS) is a rare autosomal dominant systemic disease with an estimated prevalence of 1/6000. Renal angiomyolipoma (AML) is a benign tumour with high morbidity frequently present in TS. The aim of the study was to test the effect of rapamycin in reducing the volume of AML in TS.

Hidden mosaicism in patients with Klinefelter's syndrome: implications for genetic reproductive counselling.

Background: Most individuals with Klinefelter's syndrome (KS) are azoospermic but residual foci of spermatogenesis have been observed in some patients. However, no consistent predictive factors for testicular sperm extraction success have been established and mosaicism could be a factor to investigate. In this study, we have assessed the degree of mosaicism in somatic and germinal tissues in KS, the meiotic competence of 47,XXY germ cells and the aneuploidy rate of post-reductional cells.

De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.

Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the other hand, gain of dosage of this gene causes the MECP2 duplication syndrome in males characterized by severe mental retardation, absence of speech development, infantile hypotonia, progressive spasticity, recurrent infections, and facial dysmorphism. Female carriers of a heterozygous duplication show a skewed X-inactivation pattern which is the most probable cause of the lack of clinical symptoms.

Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis.

Background: Tuberous sclerosis (TS) is a systemic disease, with an autosomal dominant pattern of inheritance caused by mutations in two genes (TSC1 and TSC2) that cause tumours (angiomyolipomas [AML], angiofibromas, astrocytomas). Constant and inadequate proliferation occurring in TS may be blocked by mTOR inhibitors (mammalian target of rapamycin), such as rapamycin.

Material And Methods: At present, our study includes 17 patients with TS.

Non-mosaic trisomy 20 of paternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues.

Trisomy 20 mosaicism is a common abnormality found in prenatal diagnosis. Its clinical significance remains unclear since approximately 90-93% of cases result in normal phenotype. Only 5 cases of non-mosaic trisomy 20 in amniotic fluid culture surviving beyond the first trimester have been reported.

Use of multidetector CT in presurgical evaluation of potential kidney transplant recipients.

Kidney transplantation is the treatment of choice for end-stage renal disease. Optimal presurgical evaluation of the potential kidney transplant recipient is important for the success of the transplantation. Multidetector computed tomography (CT) allows assessment of the feasibility of kidney transplantation; detection of coexisting illnesses that may affect survival of the graft and that must be treated before transplantation; and evaluation of possible peripheral vascular disease, which is present in a significant number of potential kidney transplant recipients.

CT findings in urinary diversion after radical cystectomy: postsurgical anatomy and complications.

Numerous surgical procedures have been developed for urinary diversion in patients who have undergone a radical cystectomy for bladder cancer or, less frequently, a benign condition. Because urinary diversion procedures are complex, early and late postsurgical complications frequently occur. Possible complications include alterations in bowel motility, anastomotic leaks, fluid collections (abscess, urinoma, lymphocele, and hematoma), fistulas, peristomal herniation, ureteral strictures, calculi, and tumor recurrence.

Characterization of focal liver lesions: comparative study of contrast-enhanced ultrasound versus spiral computed tomography.

The purpose of this study was to compare the diagnostic accuracy of contrast-enhanced ultrasound (CEUS) with spiral computed tomography (SCT) for the characterization of focal liver lesions (FLL) and to determine the degree of correlation between the two techniques. Seventy-seven FLL (45 hepatocellular carcinomas; 12 metastases; ten hemangiomas; two regenerating/dysplastic nodules; eight focal nodular hyperplasias) detected with ultrasound (US) were prospectively evaluated by CEUS using a second-generation contrast agent and SCT (with an interval of no more than one month between the two techniques). Independent observers made the most probable diagnosis and the results were compared with the final diagnoses (histology n = 59; MRI n = 18).