Genetic Modifier Screens Reveal New Components that Interact with the Drosophila Dystroglycan-Dystrophin Complex

The Dystroglycan-Dystrophin (Dg-Dys) complex has a capacity to transmit information from the extracellular matrix to the cytoskeleton inside the cell. It is proposed that this interaction is under tight regulation; however the signaling/regulatory components of Dg-Dys complex remain elusive. Understanding the regulation of the complex is critical since defects in this complex cause muscular dystrophy in humans. To reveal new regulators of the Dg-Dys complex, we used a model organism Drosophila melanogaster and performed genetic interaction screens to identify modifiers of Dg and Dys mutants in Drosophila wing veins. These mutant screens revealed that the Dg-Dys complex interacts with genes involved in muscle function and components of Notch, TGF-β and EGFR signaling pathways. In addition, components of pathways that are required for cellular and/or axonal migration through cytoskeletal regulation, such as Semaphorin-Plexin, Frazzled-Netrin and Slit-Robo pathways show interactions with Dys and/or Dg. These data suggest that the Dg-Dys complex and the other pathways regulating extracellular information transfer to the cytoskeletal dynamics are more intercalated than previously thought

International physician survey on management of FOP: a modified Delphi study

Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also known as ALK2), a bone morphogenetic protein (BMP) type I receptor. Presently, symptomatic management is possible, but no definitive treatments are available. Although extensive guidelines for symptomatic management are widely used, regional preferences exist. In order to understand if there was worldwide consensus among clinicians treating FOP patients, an expert panel of physicians directly involved in FOP patient care was convened. Using a modified Delphi method, broad international consensus was reached on four main topics: diagnosis, prevention of flare-ups, patient and family-centered care and general clinical management issues. This study of physician preferences provides a basis for standardization of clinical management for FOP

Getting a Technology-Based Diabetes Intervention Ready for Prime Time: a Review of Usability Testing Studies

Consumer health technologies can educate patients about diabetes and support their self-management, yet usability evidence is rarely published even though it determines patient engagement, optimal benefit of any intervention, and an understanding of generalizability. Therefore, we conducted a narrative review of peer-reviewed articles published from 2009–2013 that tested the usability of a web- or mobile-delivered system/application designed to educate and support patients with diabetes. Overall, the 23 papers included in our review used mixed (n=11), descriptive quantitative (n=9), and qualitative methods (n=3) to assess usability, such as documenting which features performed as intended and how patients rated their experiences. More sophisticated usability evaluations combined several complementary approaches to elucidate more aspects of functionality. Future work pertaining to the design and evaluation of technology-delivered diabetes education/support interventions should aim to standardize the usability testing processes, and publish usability findings to inform interpretation of why an intervention succeeded or failed, and for whom