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The pathophysiology of fragile X (and what it teaches us about synapses).

ABSTRACT: Fragile X is the most common known inherited cause of intellectual disability and autism, and it typically results from transcriptional silencing of FMR1 and loss of the encoded protein, FMRP (fragile X mental retardation protein). FMRP is an mRNA-binding protein that functions at many synapses to inhibit local translation stimulated by metabotropic glutamate receptors (mGluRs) 1 and 5. Recent studies on the biology of FMRP and the signaling pathways downstream of mGluR1/5 have yielded deeper insight into how synaptic protein synthesis and plasticity are regulated by experience. This new knowledge has also suggested ways that altered signaling and synaptic function can be corrected in fragile X, and human clinical trials based on this information are under way.

SUBMITTER: Bhakar AL

PROVIDER: S-EPMC4327822 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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The pathophysiology of fragile X (and what it teaches us about synapses).

Bhakar Asha L AL Dölen Gül G Bear Mark F MF

Annual review of neuroscience 20120405

Fragile X is the most common known inherited cause of intellectual disability and autism, and it typically results from transcriptional silencing of FMR1 and loss of the encoded protein, FMRP (fragile X mental retardation protein). FMRP is an mRNA-binding protein that functions at many synapses to inhibit local translation stimulated by metabotropic glutamate receptors (mGluRs) 1 and 5. Recent studies on the biology of FMRP and the signaling pathways downstream of mGluR1/5 have yielded deeper in ...[more]

PMID: 22483044

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Project description:The objective of this study was to understand how pain patients and health care providers (HCPs) are engaging on Twitter and what insights this engagement might provide. By identifying how information is spread by and between these audiences, organizations such as patient advocacy groups may be better poised to develop and share materials that facilitate online communication between HCPs and pain patients, with an end goal of improving a shared decision-making process around pain management. We analyzed the Twitter audiences most engaged on pain topics by conducting a Social Network Analysis (SNA) of a large network of connected users on Twitter. The analysis segmented users based on the sources they cited and measured their influence based on who follows them. As a point of comparison, we also conducted an SNA of Twitter audiences most engaged on oncology topics. Oncology was chosen as a comparison due to what was perceived to be a highly developed online network of both patients and physicians. The populations included in this research included 12,086 accounts that were highly engaged on pain-related topics, and 12,617 accounts that were highly engaged on oncology-related topics. Network statistics were generated for variables including: word use, sources cited, retweets, and mentions. We also statistically analyzed the Twitter follow relationships among select HCPs and patient groups within each SNA. The creation of separate pain and oncology SNAs allowed the team to compare relationships and engagement related to these topics. We found that on Twitter, pain patients and providers appear to interact less than oncology patients and providers. Pain patients do not appear to follow medical professionals or share medical or health-related information on Twitter to the same extent as oncology patients. In addition, we found that pain patients do not communicate on Twitter in the same language as HCPs. Our results are important because they underscore that challenges in communication are not just problematic in face-to-face interactions, but also in digital social network (Twitter) interactions, serving as an additional roadblock to what can be shared decision-making opportunities around pain management. Contributing to this roadblock is access to quality information and a potential need for an online, evidence-based resource hub that could benefit the pain patient community in the same way that cancer.gov serves as a source of aggregated materials for oncology patients and HCPs. This study is an illustration of how social media networks like Twitter can be used to better understand the relationships, language gaps, and shared resources between pain patients and providers and offers a template for using digital social network (Twitter) interactions to research other difficult-to-treat or rare disease states.

Project description:ImportanceBilling errors and healthcare fraud have been described by the WHO as 'the last great unreduced health-care cost'. Estimates suggest that 7% of global health expenditure (US$487?billion) is wasted from this phenomenon. Irrespective of different payment models, challenges exist at the interface of medical billing and medical practice across the globe. Medical billing education has been cited as an effective preventative strategy, with targeted education saving $A250?million in Australia in 1?year from an estimated $A1-3?billion of waste.ObjectiveThis study attempts to systematically map all avenues of medical practitioner education on medical billing in Australia and explores the perceptions of medical education stakeholders on this topic.DesignNational cross-sectional survey between April 2014 and June 2015. No patient or public involvement. Data analysis-descriptive statistics via frequency distributions.ParticipantsAll stakeholders who educate medical practitioners regarding clinical practice (n=66). 86% responded.ResultsThere is little medical billing education occurring in Australia. The majority of stakeholders (70%, n=40) did not offer/have never offered a medical billing course. 89% thought medical billing should be taught, including 30% (n=17) who were already teaching it. There was no consensus on when medical billing education should occur.ConclusionsTo our knowledge, this is the first attempt of any country to map the ways doctors learn the complex legal and administrative infrastructure in which they work. Consistent with US findings, Australian doctors may not have expected legal and administrative literacy. Rather than reliance on ad hoc training, development of an Australian medical billing curriculum should be encouraged to improve compliance, expedite judicial processes and reduce waste. In the absence of adequate education, disciplinary bodies in all countries must consider pleas of ignorance by doctors under investigation, where appropriate, for incorrect medical billing.

Dataset Information

The pathophysiology of fragile X (and what it teaches us about synapses).

Publications

The pathophysiology of fragile X (and what it teaches us about synapses).

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