The role of SH3BP2 in the pathophysiology of cherubism

Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children at ages of 2-5 years and the bone resorption and facial swelling continues until puberty; in most cases the lesions regress spontaneously thereafter. Most patients with cherubism have germline mutations in the gene encoding SH3BP2, an adapter protein involved in adaptive and innate immune response signaling. A mouse model carrying a Pro416Arg mutation in SH3BP2 develops osteopenia and expansile lytic lesions in bone and some soft tissue organs. In this review we discuss the genetics of cherubism, the biological functions of SH3BP2 and the analysis of the mouse model. The data suggest that the underlying cause for cherubism is a systemic autoinflammatory response to physiologic challenges despite the localized appearance of bone resorption and fibrous expansion to the jaws in humans

Cherubism: best clinical practice

Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on chromosome 4p16.3. Affected children appear normal at birth. Swelling of the jaws usually appears between 2 and 7 years of age, after which, lesions proliferate and increase in size until puberty. The lesions subsequently begin to regress, fill with bone and remodel until age 30, when they are frequently not detectable

Active authentication for mobile devices utilising behaviour profiling.

With nearly 6 billion subscribers around the world, mobile devices have become an indispensable component in modern society. The majority of these devices rely upon passwords and personal identification numbers as a form of user authentication, and the weakness of these point-of-entry techniques is widely documented. Active authentication is designed to overcome this problem by utilising biometric techniques to continuously assess user identity. This paper describes a feasibility study into a behaviour profiling technique that utilises historical application usage to verify mobile users in a continuous manner. By utilising a combination of a rule-based classifier, a dynamic profiling technique and a smoothing function, the best experimental result for a users overall application usage was an equal error rate of 9.8 %. Based upon this result, the paper proceeds to propose a novel behaviour profiling framework that enables a user’s identity to be verified through their application usage in a continuous and transparent manner. In order to balance the trade-off between security and usability, the framework is designed in a modular way that will not reject user access based upon a single application activity but a number of consecutive abnormal application usages. The proposed framework is then evaluated through simulation with results of 11.45 and 4.17 % for the false rejection rate and false acceptance rate, respectively. In comparison with point-of-entry-based approaches, behaviour profiling provides a significant improvement in both the security afforded to the device and user convenience

Different healthy habits between northern and southern Spanish school children

Aim: Healthy habits are influenced by several factors such as, geographical location. The aims of this study were to describe and compare healthy habits within two populations of sixth-grade primary school children (aged 11-12 years) from Northern and Southern Spain. Subject and Methods: A cross-sectional study using two representative samples of school children was conducted. Participants came from Logroño (n=329), in the North and Granada (n=284), in the South of Spain. Socio-demographic and anthropometric variables, adherence to the Mediterranean diet, aerobic fitness, and healthy lifestyles were recorded. Results: Boys reported higher level of physical activity and aerobic fitness than girls (p=0.000). Southern school children reported significantly higher adherence to the Mediterranean diet (♀: p=0.041; ♂: p=0.008), and lower aerobic fitness (♀: p=0.000; ♂: p=0.042) and hours of nightly sleep (♀: p=0.008, ♂: p=0.007) than Northern school children. Southern boys also reported lower levels of physical activity (p=0.013). There were slight or moderate correlations among all habits measured (physical activity, diet, screen and sleep time). Additionally, physical activity level was inversely related to body mass index in Northern boys (p=0.020) and Southern girls (p=0.024). Conclusions: Results showed differences in physical activity, eating and sleep habits, and aerobic fitness, according to geographical location. The relationships found among lifestyle habits indicate the need of health promotion interventions nationally and considering the differences discussed here

Tumor BRCA1, RRM1 and RRM2 mRNA Expression Levels and Clinical Response to First-Line Gemcitabine plus Docetaxel in Non-Small-Cell Lung Cancer Patients

Overexpression of RRM1 and RRM2 has been associated with gemcitabine resistance. BRCA1 overexpression increases sensitivity to paclitaxel and docetaxel. We have retrospectively examined the effect of RRM1, RRM2 and BRCA1 expression on outcome to gemcitabine plus docetaxel in advanced non-small-cell lung cancer (NSCLC) patients. = 0.001). Low BRCA1 expression was the only factor significantly associated with longer time to progression in 31 patients receiving cisplatin-based second-line therapy.The mRNA expression of BRCA1, RRM1 and RRM2 is potentially a useful tool for selecting NSCLC patients for individualized chemotherapy and warrants further investigation in prospective studies