• Neumann McClellan posted an update 1 month, 3 weeks ago

    Paget’s disease of bone (PDB) is characterized by focal or multifocal increase in bone turnover. One of the most well-established candidate genes for susceptibility to PDB is Sequestosome 1 (SQSTM1). Mutations in SQSTM1 have been documented among Western-European, British and American patients with PDB. However, there is no information on SQSTM1 mutation status in PDB patients from the Central- and Eastern-European regions. In this study, we conducted a mutation screening for SQSTM1 gene variants in 82 PDB patients and 100 control participants in Hungary. Mutations of SQSTM1 were detected in 18 PDB patients (21.95%); associations between genotype and clinical characteristics were also analyzed. Altogether, six different exonic alterations, including two types of UTR variants in the SQSTM1 gene, were observed in our PDB patients. Similarly, to previous genetic studies on Paget’s disease, our most commonly detected variant was the c.1175C > T (p.Pro392Leu) in nine cases (four in monostotic and five in polyostotic form). We have surveyed the germline SQSTM1 variant distribution among Hungarian patients with PDB. We also highlighted that the pattern of the analyzed disease-associated pathophysiological parameters could partially discriminate PDB patients with normal or mutant SQSTM1 genotype. However, our findings also underline and strengthen that not solely SQSTM1 stands in the background of the complex PDB etiology.We model and study the patterns created through the interaction of collectively moving self-propelled particles (SPPs) and elastically tethered obstacles. Simulations of an individual-based model reveal at least three distinct large-scale patterns travelling bands, trails and moving clusters. This motivates the derivation of a macroscopic partial differential equations model for the interactions between the self-propelled particles and the obstacles, for which we assume large tether stiffness. The result is a coupled system of nonlinear, non-local partial differential equations. Linear stability analysis shows that patterning is expected if the interactions are strong enough and allows for the predictions of pattern size from model parameters. The macroscopic equations reveal that the obstacle interactions induce short-ranged SPP aggregation, irrespective of whether obstacles and SPPs are attractive or repulsive.Poor water quality in urban streams places at risk the health of urban residents and the integrity of urban environments, ultimately leading to the “urban stream syndrome.” In response to growing concerns regarding urban streams in Uruguay, we evaluated the spatiotemporal variation in water quality parameters in two urban streams, the Ceibal and La Curtiembre streams, over 12-18 months. A proposal for an Urban Water Quality Index (UWQI) was developed based on national water quality standards for two stream classes to assess variability in overall stream condition over time. Both streams displayed extremely high levels of fecal coliform concentrations in mid-downstream sites and relatively high levels of total dissolved phosphorus and ammonia well above the national standards of 0.025 mg/L and 0.02 mg/L, respectively. Nitrate was consistently below the national maximum of 44.3 mg/L, calling to question the adequacy of this standard for designated uses. Over 40% of samples had oxygen levels below the national standard of 5 mg/L, and a dead zone (average 1.5 mg/L) was detected in the downstream reach of the La Curtiembre stream. Despite differences in land use and urban context, monthly observations of nutrients and coliforms indicated high levels of contamination in mid-downstream reaches, which could present a health risk for the populations in Paysandú and Salto. Neuronal Signaling antagonist This study highlights the degradation of urban streams in two major cities in Uruguay and the need for a comparative diagnosis of stream condition as a basis for decision-making regarding urban development and water resources.

    To assess the degree of fluid-fluid levels on MRI in spinal tumours compared with final diagnosis, and the outcome of needle biopsy in such cases.

    Retrospective review of patients with a spinal tumour that contained fluid-fluid levels. Data collected included age, sex, spinal location, and final diagnosis. The outcome of needle biopsy was investigated.

    Forty-two patients were included (19 males; 24 females; mean age 27.5 years, range 5-80 years), the commonest diagnoses being aneurysmal bone cyst (n = 25; 59.5%) and metastasis (n = 5; 11.9%). All patients with a malignant diagnosis were > 50 years of age apart from 2 who had metastases from a known primary cancer, while all patients apart from 1 with aneurysmal bone cyst were < 35 years of age. Needle biopsy was undertaken in 29 cases (69%) and diagnostic in 18 (62%). Patients with FFL occupying > 2/3 of the lesion were significantly more likely to have an aneurysmal bone cyst (p = 0.008) while those with FFL occupying < 2/3 of the lesion were more likely to have a malignant tumour (p = 0.001). The sensitivity, specificity, positive predictive value, negative predictive value, and diagnostic accuracy of > 2/3 FFLs occupying the lesion were 97.1%, 75%, 94.3%, 85.7%, and 92.9% respectively for differentiating a benign from a malignant spinal tumour.

    Children and younger adults with spinal lesions containing > 2/3 FFLs were very unlikely to have malignancy. However, in patients > 50 years of age or those with lesions containing < 2/3 FFLs, a malignant lesion is much more likely.

    50 years of age or those with lesions containing less then 2/3 FFLs, a malignant lesion is much more likely.

    Stress fractures of the upper extremities in athletes are important injuries for radiologists to appreciate despite being far less common than stress fracturesof the lower extremities. Among upper extremity stress fractures, those involving the olecranon have been well described in overhead pitching athletes. Isolated stressfractures of the ulnar shaft however are less commonly reported in the literature and considered to be rare. We have observed a correlation between young patients withulnar shaft stress fractures and the activity of fast-pitch softball pitching.

    In this series, we present the imaging findings in four cases of ulnar shaft stressfractures in softball pitchers who presented with insidious onset forearm pain. Furthermore, a review of the literature focusing on softball pitching mechanics isprovided to offer a potential underlying mechanism for the occurrence and location of these injuries.

    An awareness of the imaging appearance of ulnarshaft stress fractures along with an understanding of its proposed mechanism will facilitate accurate and timely imaging diagnosis of this injury by the radiologist.