153 resultados para HEREDITARY OPTIC NEUROPATHY


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In many bridges, vertical displacements are one of the most relevant parameters for structural health monitoring in both the short and long terms. Bridge managers around the globe are always looking for a simple way to measure vertical displacements of bridges. However, it is difficult to carry out such measurements. On the other hand, in recent years, with the advancement of fiber-optic technologies, fiber Bragg grating (FBG) sensors are more commonly used in structural health monitoring due to their outstanding advantages including multiplexing capability, immunity of electromagnetic interference as well as high resolution and accuracy. For these reasons, using FBG sensors is proposed to develop a simple, inexpensive and practical method to measure vertical displacements of bridges. A curvature approach for vertical displacement measurement using curvature measurements is proposed. In addition, with the successful development of a FBG tilt sensors, an inclination approach is also proposed using inclination measurements. A series of simulation tests of a full-scale bridge was conducted. It shows that both the approaches can be implemented to determine vertical displacements for bridges with various support conditions, varying stiffness (EI) along the spans and without any prior known loading. These approaches can thus measure vertical displacements for most of slab-on-girder and box-girder bridges. Moreover, with the advantages of FBG sensors, they can be implemented to monitor bridge behavior remotely and in real time. Further recommendations of these approaches for developments will also be discussed at the end of the paper.

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Fiber Bragg grating (FBG) sensor technology has been attracting substantial industrial interests for the last decade. FBG sensors have seen increasing acceptance and widespread use for structural sensing and health monitoring applications in composites, civil engineering, aerospace, marine, oil & gas, and smart structures. One transportation system that has been benefitted tremendously from this technology is railways, where it is of the utmost importance to understand the structural and operating conditions of rails as well as that of freight and passenger service cars to ensure safe and reliable operation. Fiberoptic sensors, mostly in the form of FBGs, offer various important characteristics, such as EMI/RFI immunity, multiplexing capability, and very long-range interrogation (up to 230 km between FBGs and measurement unit), over the conventional electrical sensors for the distinctive operational conditions in railways. FBG sensors are unique from other types of fiber-optic sensors as the measured information is wavelength-encoded, which provides self-referencing and renders their signals less susceptible to intensity fluctuations. In addition, FBGs are reflective sensors that can be interrogated from either end, providing redundancy to FBG sensing networks. These two unique features are particularly important for the railway industry where safe and reliable operations are the major concerns. Furthermore, FBGs are very versatile and transducers based on FBGs can be designed to measure a wide range of parameters such as acceleration and inclination. Consequently, a single interrogator can deal with a large number of FBG sensors to measure a multitude of parameters at different locations that spans over a large area.

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Background: The current model of care for breast cancer is focused on disease treatment followed by ongoing recurrence surveillance. This approach lacks attention to the patients’ physical and functional well-being. Breast cancer treatment sequelae can lead to physical impairments and functional limitations. Common impairments include pain, fatigue, upper extremity dysfunction, lymphedema, weakness, joint arthralgia, neuropathy, weight gain, cardiovascular effects, and osteoporosis. Evidence supports prospective surveillance for early identification and treatment as a means to prevent or mitigate many of these concerns. Purpose: This paper proposes a prospective surveillance model for physical rehabilitation and exercise that can be integrated with disease treatment to create a more comprehensive approach to survivorship health care. The goals of the model are to promote surveillance for common physical impairments and functional limitations associated with breast cancer treatment, to provide education to facilitate early identification of impairments, to introduce rehabilitation and exercise intervention when physical impairments are identified and to promote and support physical activity and exercise behaviors through the trajectory of disease treatment and survivorship. Methods: The model is the result of a multi-disciplinary meeting of research and clinical experts in breast cancer survivorship and representatives of relevant professional and advocacy organizations. Outcomes: The proposed model identifies time points during breast cancer care for assessment of and education about physical impairments. Ultimately, implementation of the model may influence incidence and severity of breast cancer treatment related physical impairments. As such, the model seeks to optimize function during and following treatment and positively influence a growing survivorship community.

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The Australian government, and opposition, are committed to facilitating high-speed broadband provision. In April 2009 the (then) Labor government announced a proposal to facilitate provision by mandating “…the use of fibre optic infrastructure … in greenfield estates ….” Separately, the installation of (usually overhead) cables commenced in select brownfield areas throughout Australia. In the lead up to the 2010 federal election, the broadband policy focus of the (then) federal opposition was to enabling private investment rather than direct investment by government itself. High-speed broadband is essential for Australia’s economic future. Whether implementation is undertaken by government, government owned corporations or private investors, will impact on the processes to be followed. Who does what, also will determine the rights available to land owners. The next stage, of necessity, will involve the establishment of procedures to require the retrofitting of existing urban environments. This clearly will have major property, property rights and valuation impacts. As Horan (2000) observed “…preserving... unique characteristics … of…regions requires a compromise between economic ambitions and social, cultural, and environmental values”. The uncertainty following the federal election, and the influence of independants with individual agendas; presents unique challenges for broadband implementation. This paper seeks to identify the processes to be followed by various potential broadband investors as they work to establish a ubiquitous network. It overviews current legislative regimes and examines concerns raised by stakeholders in various government reviews. It concludes by plotting a clear way forward to the future, with particular regard to property rights and usage.

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We present experimental and theoretical results of the intensity dependence of residual amplitude modulation (RAM) production in electro-optic phase modulators. By utilizing the anisotropy of the medium, we show that RAM has a photorefractive origin.

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There is a need for an accurate real-time quantitative system that would enhance decision-making in the treatment of osteoarthritis. To achieve this objective, significant research is required that will enable articular cartilage properties to be measured and categorized for health and functionality without the need for laboratory tests involving biopsies for pathological evaluation. Such a system would provide the capability of access to the internal condition of the cartilage matrix and thus extend the vision-based arthroscopy that is currently used beyond the subjective evaluation of surgeons. The system required must be able to non-destructively probe the entire thickness of the cartilage and its immediate subchondral bone layer. In this thesis, near infrared spectroscopy is investigated for the purpose mentioned above. The aim is to relate it to the structure and load bearing properties of the cartilage matrix to the near infrared absorption spectrum and establish functional relationships that will provide objective, quantitative and repeatable categorization of cartilage condition outside the area of visible degradation in a joint. Based on results from traditional mechanical testing, their innovative interpretation and relationship with spectroscopic data, new parameters were developed. These were then evaluated for their consistency in discriminating between healthy viable and degraded cartilage. The mechanical and physico-chemical properties were related to specific regions of the near infrared absorption spectrum that were identified as part of the research conducted for this thesis. The relationships between the tissue's near infrared spectral response and the new parameters were modeled using multivariate statistical techniques based on partial least squares regression (PLSR). With significantly high levels of statistical correlation, the modeled relationships were demonstrated to possess considerable potential in predicting the properties of unknown tissue samples in a quick and non-destructive manner. In order to adapt near infrared spectroscopy for clinical applications, a balance between probe diameter and the number of active transmit-receive optic fibres must be optimized. This was achieved in the course of this research, resulting in an optimal probe configuration that could be adapted for joint tissue evaluation. Furthermore, as a proof-of-concept, a protocol for obtaining the new parameters from the near infrared absorption spectra of cartilage was developed and implemented in a graphical user interface (GUI)-based software, and used to assess cartilage-on-bone samples in vitro. This conceptual implementation has been demonstrated, in part by the individual parametric relationship with the near infrared absorption spectrum, the capacity of the proposed system to facilitate real-time, non-destructive evaluation of cartilage matrix integrity. In summary, the potential of the optical near infrared spectroscopy for evaluating articular cartilage and bone laminate has been demonstrated in this thesis. The approach could have a spin-off for other soft tissues and organs of the body. It builds on the earlier work of the group at QUT, enhancing the near infrared component of the ongoing research on developing a tool for cartilage evaluation that goes beyond visual and subjective methods.

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Many substation applications require accurate time-stamping. The performance of systems such as Network Time Protocol (NTP), IRIG-B and one pulse per second (1-PPS) have been sufficient to date. However, new applications, including IEC 61850-9-2 process bus and phasor measurement, require accuracy of one microsecond or better. Furthermore, process bus applications are taking time synchronisation out into high voltage switchyards where cable lengths may have an impact on timing accuracy. IEEE Std 1588, Precision Time Protocol (PTP), is the means preferred by the smart grid standardisation roadmaps (from both the IEC and US National Institute of Standards and Technology) of achieving this higher level of performance, and integrates well into Ethernet based substation automation systems. Significant benefits of PTP include automatic path length compensation, support for redundant time sources and the cabling efficiency of a shared network. This paper benchmarks the performance of established IRIG-B and 1-PPS synchronisation methods over a range of path lengths representative of a transmission substation. The performance of PTP using the same distribution system is then evaluated and compared to the existing methods to determine if the performance justifies the additional complexity. Experimental results show that a PTP timing system maintains the synchronising performance of 1-PPS and IRIG-B timing systems, when using the same fibre optic cables, and further meets the needs of process buses in large substations.

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Vertical displacements are one of the most relevant parameters for structural health monitoring of bridges in both the short and long terms. Bridge managers around the globe are always looking for a simple way to measure vertical displacements of bridges. However, it is difficult to carry out such measurements. On the other hand, in recent years, with the advancement of fiber-optic technologies, fiber Bragg grating (FBG) sensors are more commonly used in structural health monitoring due to their outstanding advantages including multiplexing capability, immunity of electromagnetic interference as well as high resolution and accuracy. For these reasons, using FBG sensors is proposed to develop a simple, inexpensive and practical method to measure vertical displacements of bridges. A curvature approach for vertical displacement measurements using curvature measurements is proposed. In addition, with the successful development of FBG tilt sensors, an inclination approach is also proposed using inclination measurements. A series of simulation tests of a full- scale bridge was conducted. It shows that both of the approaches can be implemented to determine vertical displacements for bridges with various support conditions, varying stiffness (EI) along the spans and without any prior known loading. These approaches can thus measure vertical displacements for most of slab-on-girder and box-girder bridges. Besides, the approaches are feasible to implement for bridges under various loading. Moreover, with the advantages of FBG sensors, they can be implemented to monitor bridge behavior remotely and in real time. A beam loading test was conducted to determine vertical displacements using FBG strain sensors and tilt sensors. The discrepancies as compared with dial gauges reading using the curvature and inclination approaches are 0.14mm (1.1%) and 0.41mm (3.2%), respectively. Further recommendations of these approaches for developments will also be discussed at the end of the paper.

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Basing on the character that Fiber Bragg Grating (FBG) is sensitive to both temperature and strain, by using Al and Fe-Ni alloy’s bimetal structure, we successfully design and manufacture a high accuracy FBG temperature sensor for earthquake premonition. Furthermore, we analyze the accuracy of the FBG sensors with enhanced sensitivity for the first time, and get its accuracy is up to ±0.05℃ with highest resolution ever in all FBG temperature sensors (0.0014℃/pm). This work experimentally proves the feasibility of using FBG in the earthquake premonition monitoring, and builds the foundation for the application of optic technology in earthquake premonition monitoring.

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Laura K. Potts’s edited collection of research on the meanings of breast cancer includes authors from the United Kingdom, the United States, and Canada whose perspectives draw on literary criticism, sociology, psychology, and cultural studies among others. The research employs various methodological approaches—for example, media analysis (Saywell et al.), autobiographical narratives (Potts), and analysis of social activism (Fishman)—to elucidate the multiple dimensions and diversity of breast cancer experiences. The first of two parts, “Meanings of Breast Cancer,” presents the problematical relationship between biomedicine and women’s constructions of breast cancer knowledge, the sexualized and maternalized breast in the print media about breast cancer, environmental risks to women’s health in the Bay Area of San Francisco, and women’s narratives of breast cancer and situating the self. In part 2, “Discourses of Risk and Breast Cancer,” examination of the discourses of prevention and risks to health are taken up in relation to breast cancer screening, the problem of prophylactic mastectomy for hereditary breast cancer, and environmental activism...

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Focal segmental glomerulosclerosis (FSGS) is the consequence of a disease process that attacks the kidney's filtering system, causing serious scarring. More than half of FSGS patients develop chronic kidney failure within 10 years, ultimately requiring dialysis or renal transplantation. There are currently several genes known to cause the hereditary forms of FSGS (ACTN4, TRPC6, CD2AP, INF2, MYO1E and NPHS2). This study involves a large, unique, multigenerational Australian pedigree in which FSGS co-segregates with progressive heart block with apparent X-linked recessive inheritance. Through a classical combined approach of linkage and haplotype analysis, we identified a 21.19 cM interval implicated on the X chromosome. We then used a whole exome sequencing approach to identify two mutated genes, NXF5 and ALG13, which are located within this linkage interval. The two mutations NXF5-R113W and ALG13-T141L segregated perfectly with the disease phenotype in the pedigree and were not found in a large healthy control cohort. Analysis using bioinformatics tools predicted the R113W mutation in the NXF5 gene to be deleterious and cellular studies support a role in the stability and localization of the protein suggesting a causative role of this mutation in these co-morbid disorders. Further studies are now required to determine the functional consequence of these novel mutations to development of FSGS and heart block in this pedigree and to determine whether these mutations have implications for more common forms of these diseases in the general population.

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease of small vessel caused by mutations in the NOTCH3 gene (NCBI Gene ID: 4854) located on chromosome 19p13.1. NOTCH3 consists of 33 exons which encode a protein of 2321 amino acids. Exons 3 and 4 were found to be mutation hotspots, containing more than 65% of all CADASIL mutations. We performed direct sequencing on an ABI 3130 Genetic Analyser to screen for mutations and polymorphisms on 300 patients who were clinically suspected to have CADASIL. First, exons 3 and 4 were screened in NOTCH3 and if there were no variations found, then extended CADASIL testing (exons 2, 11, 18 and 19) was offered to patients. Here we report two novel non-synonymous mutations identified in the NOTCH3 gene. The first mutation, located in exon 4 was found in a 49-year-old female and causes an alanine to valine amino acid change at position 202 (605C > T). The second mutation, located in exon 11, was found in a 66-year-old female and causes a cysteine to arginine amino acid change at position 579 (1735T > C). We also report a 46-year-old male with a known polymorphism Thr101Thr (rs3815188) and an unreported polymorphism NM_000435.2:c.679+60G>A observed in intron 4 of the NOTCH3 gene. Although Ala202Ala (rs1043994) is a common polymorphism in the NOTCH3 gene, our reported novel mutation (Ala202Val) causes an amino acid change at the same locus. Our other reported mutation (Cys579Arg) correlates well with other known mutations in NOTCH3, as the majority of the CADASIL-associated mutations in NOTCH3 generally occur in the EGF-like (epidermal growth factor-like) repeat domain, causing a change in the number of cysteine residues. The intronic polymorphism NM_000435.2:c.679+60G>A lies close to the intron–exon boundary and may affect the splicing mechanism in the NOTCH3 gene.

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In an attempt to define genomic copy number changes associated with the development of basal cell carcinoma, we investigated 15 sporadic tumors by comparative genomic hybridization. With the incorporation of tissue microdissection and degenerate oligonucleotide primed-polymerase chain reaction we were able to isolate, and then universally amplify, DNA from the tumor type. This combined approach allows the investigation of chromosomal imbalances within a histologically distinct region of tissue. Using comparative genomic hybridization we have observed novel and recurrent chromosomal gains at 6p (47%), 6q (20%), 9p (20%), 7 (13%), and X (13%). In addition comparative genomic hybridization revealed regional loss on 9q in 33% of tested tumors encompassing 9q22.3 to which the putative tumor suppressor gene, Patched, has been mapped. The deletion of Patched has been indicated in the development of hereditary and sporadic basal cell carcinomas. The identification of these recurrent genetic aberrations suggests that basal cell carcinomas may not be as genetically stable as previously thought. Further investigation of these regions may lead to the identification of other genes responsible for basal cell carcinoma formation.

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Drawing on three case studies of work in the fields of participatory design, interaction design and electronic arts, we reflect on the implications of these studies for haptic interface research. We propose three themes: gestural; emergent; and expressive; as signposts for a program of research into haptic interaction that could point the way towards novel approaches to haptic interaction and move us from optic to haptic ways of seeing.

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Purpose: Over 40% of the permanent population of Norfolk Island possesses a unique genetic admixture dating to Pitcairn Island in the late 18 th century, with descendents having varying degrees of combined Polynesian and European ancestry. We conducted a population-based study to determine the prevalence and causes of blindness and low vision on Norfolk Island. Methods: All permanent residents of Norfolk Island aged ≥ 15 years were invited to participate. Participants completed a structured questionnaire/interview and underwent a comprehensive ophthalmic examination including slit-lamp biomicroscopy. Results: We recruited 781 people aged ≥ 15, equal to 62% of the permanent population, 44% of whom could trace their ancestry to Pitcairn Island. No one was bilaterally blind. Prevalence of unilateral blindness (visual acuity [VA] < 6/60) in those aged ≥ 40 was 1.5%. Blindness was more common in females (P=0.049) and less common in people with Pitcairn Island ancestry (P<0.001). The most common causes of unilateral blindness were age-related macular degeneration (AMD), amblyopia, and glaucoma. Five people had low vision (Best-Corrected VA < 6/18 in better eye), with 4 (80%) due to AMD. People with Pitcairn Island ancestry had a lower prevalence of AMD (P<0.001) but a similar prevalence of glaucoma to those without Pitcairn Island ancestry. Conclusions: The prevalence of blindness and visual impairment in this isolated Australian territory is low, especially amongst those with Pitcairn Island ancestry. AMD was the most common cause of unilateral blindness and low vision. The distribution of chronic ocular diseases on Norfolk Island is similar to mainland Australian estimates.