Circumcaval ureter with synchronous ipsilateral transitional cell carcinoma of the renal pelvis and the urinary bladder: report of a case and review of the literature

We report a case of concomitant transitional cell carcinoma (TCC) in a circumcaval ureter and invasive bladder cancer. The diagnosis was based on the findings of excretory urography (IVU) and contrast-enhanced computed tomography (CT). IVU showed a typical J-shaped deformity in the dilated right proximal ureteric segment with moderate hydronephrosis and a filling defect in the renal pelvis, while abdominal CT with contrast showed right hydronephrosis with an intrapelvic tumor. The patient underwent radical cystoprostatectomy and nephroureterectomy. No recurrence was detected after 12 months of follow-up.Key Words: Circumcaval, retrocaval, ureter, bladder, transitional cell carcinom

Nuove varianti di Bronchite Infettiva negli allevamenti avicoli siciliani

Avian Infectious Bronchitis (IB) is a disease caused by a Coronavirus, included in Coronaviridae family. The disease, endemic in Italy, affects both broilers and laying hens. It represents one of the main health issue in sicilian poultry farms. The presence of new antigenic variants makes problematic the implementation of an adequate prophylaxis through the use of appropriate vaccines. The present work aims to study the spread of IB strains in Sicily by serological and biomolecular tests in order to investigate the presence of "historical" strains as well as new strains and to carry out the genotyping of viruses isolated. The serological results show that the used vaccination protocols are able to develop an adequate antibody titre along all production steps both laying hens and broilers. The virological results underline the presence of QX strain in a broilers farm. This is a strain widespread in Italy but never reported in the regional territory

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission

Intraindividual Comparison of Gadobutrol and Gadopentetate dimeglumine for detection of myocardial late enhancement in Cardiac MRI

OBJECTIVE. Gadobutrol is an extracellular macrocyclic gadolinium chelate recently introduced in MRI, and it has already been used for cardiac late enhancement imaging; however, until now it has never been compared with gadopentetate dimeglumine. The purpose of our study was to compare 0.1 mmol/kg gadobutrol to 0.2 mmol/kg gadopentetate dimeglumine for the detection of myocardial late enhancement in the same group of patients. SUBJECTS AND METHODS. This was an exploratory single-blind parallel group study comparing gadobutrol (0.1 mmol/kg) to gadopentetate dimeglumine (0.2 mmol/kg) in 20 adult patients scheduled for cardiac late enhancement MRI with gadopentetate dimeglumine and whose MR images showed late enhancement. MR images were acquired at 10, 15, and 20 minutes after peripheral injection of gadobutrol by using a 3D turbo field echo inversion recovery T1-weighted sequence. Volume and percentage of late enhancement, number of involved segments, late enhancement localization and pattern, and late enhancement signal-tonoise ratio (SNR) and contrast-to-noise ratio (CNR) were compared between contrast agents. RESULTS. Late enhancement was not significantly different with gadobutrol and gadopentetate dimeglumine both in terms of total volume of myocardium (mean \ub1 SD, 37.8 \ub1 56.1 and 35.1 \ub1 46.7 cm 3, respectively; p = 0.33) and percentage of myocardial wall involvement (22.5% \ub1 19.1% and 22.0% \ub1 17.2%, respectively; p = 0.67). The number of segments involved was not different (138 with gadobutrol vs 134 with gadopentetate dimeglumine). Furthermore, SNR and CNR were not different (gadopentetate dimeglumine, 123.8 \ub1 82.9 and gadobutrol, 117.2 \ub1 88.6, p = 0.58 and gadopentetate dimeglumine, 96.2 \ub1 68.9 and gadobutrol, 88.4 \ub1 72.9, p = 0.53, respectively). CONCLUSION. A single dose of gadobutrol seems to be as effective as a double dose of gadopentetate dimeglumine for the detection of late enhancement

Serum levels of polybrominated diphenyl ethers in girls with premature thelarche

Polybrominated diphenyl ethers (PBDEs) are widely used as flame retardants and have shown endocrine disruption properties in experimental studies. The aim of this study was to investigate the association between the exposure to PBDEs and alterations of puberty in girls referred for idiopathic central precocious puberty (ICPP) and premature thelarche (PT)