Seeing it my way: living with childhood onset visual disability

Background: Although the significant impact of visual disability in childhood has been widely recognized, children's own perspectives of living with a visual impairment have not been considered. We report the experiences of visually impaired (VI) children and young people aged 10–15 years about growing up with impaired sight. Methods: The participants were 32 VI children and young people, aged 10–15 years [visual acuity logarithm of minimum angle of resolution (LogMAR) worse than 0.51] recruited through National Health Service (NHS) paediatric ophthalmology and developmental vision clinics and 11 VI pupils aged 12–17 attending a specialist school for pupils with disabilities. Individual semi‐structured interviews with participants captured their experiences of living with a visual impairment. A child‐centred interview topic guide was developed from a literature review, observations at ophthalmology clinics, consultation with health and education professionals working with VI children and young people, and interviews and a focus group with VI pupils from the specialist school. Collaborative qualitative thematic analysis by three researchers identified emergent themes. NVivo software was used for coding the data. Results: Analysis identified six themes concerning living with a visual impairment: (i) social relationships, participation and acceptance; (ii) independence and autonomy; (iii) psychological and emotional well‐being; (iv) aspirations and concerns about the future; (v) functioning – home, school and leisure; and (vi) treatment of eye condition. Key issues included: the importance of family and peer support; balancing independence, support and safety; the emotional burden and adjustment of living with a disability; concerns about education and job prospects in the future; functional restrictions and limitations; and ongoing management of the eye condition. Conclusions: The findings offer insights into the complex realities of living with visual impairment. They provide the basis for development of patient‐reported outcome measures. They can also serve to help enrich the understanding of health professionals working with VI children and young people, potentially enabling them to better support them

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

<p>Abstract</p> <p>Background</p> <p>We report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (<it>LRRK2</it>)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen <it>LRRK2 </it>mutation, Gly2019Ser (G2019S), is associated with approximately 5 to 6% of familial PD cases and 1 to 2% of idiopathic cases, making it the most common known genetic cause of PD. Studies of the penetrance of <it>LRRK2 </it>mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD.</p> <p>Methods</p> <p>A sample, including 903 affected and 58 unaffected members from 509 families ascertained for having two or more PD-affected members, 126 randomly ascertained PD patients and 197 controls, was screened for five different <it>LRRK2 </it>mutations. Penetrance was estimated in families of <it>LRRK2 </it>carriers with consideration of the inherent bias towards increased penetrance in a familial sample.</p> <p>Results</p> <p>Thirty-one out of 509 families with multiple cases of PD (6.1%) were found to have 58 <it>LRRK2 </it>mutation carriers (6.4%). Twenty-nine of the 31 families had G2019S mutations while two had R1441C mutations. No mutations were identified among controls or unaffected relatives of PD cases. Nine PD-affected relatives of G2019S carriers did not carry the <it>LRRK2 </it>mutation themselves. At the maximum observed age range of 90 to 94 years, the unbiased estimated penetrance was 67% for G2019S families, compared with a baseline PD risk of 17% seen in the non-<it>LRRK2</it>-related PD families.</p> <p>Conclusion</p> <p>Lifetime penetrance of <it>LRRK2 </it>estimated in the unascertained relatives of multiplex PD families is greater than that reported in studies of sporadically ascertained <it>LRRK2 </it>cases, suggesting that inherited susceptibility factors may modify the penetrance of <it>LRRK2 </it>mutations. In addition, the presence of nine PD phenocopies in the <it>LRRK2 </it>families suggests that these susceptibility factors may also increase the risk of non-<it>LRRK2</it>-related PD. No differences in penetrance were found between men and women, suggesting that the factors that influence penetrance for <it>LRRK2 </it>carriers are independent of the factors which increase PD prevalence in men.</p

The James Webb Space Telescope Mission

Twenty-six years ago a small committee report, building on earlier studies, expounded a compelling and poetic vision for the future of astronomy, calling for an infrared-optimized space telescope with an aperture of at least $4m$. With the support of their governments in the US, Europe, and Canada, 20,000 people realized that vision as the $6.5m$ James Webb Space Telescope. A generation of astronomers will celebrate their accomplishments for the life of the mission, potentially as long as 20 years, and beyond. This report and the scientific discoveries that follow are extended thank-you notes to the 20,000 team members. The telescope is working perfectly, with much better image quality than expected. In this and accompanying papers, we give a brief history, describe the observatory, outline its objectives and current observing program, and discuss the inventions and people who made it possible. We cite detailed reports on the design and the measured performance on orbit.Comment: Accepted by PASP for the special issue on The James Webb Space Telescope Overview, 29 pages, 4 figure

Integrity and Performance in Network Attached Storage

Computer security is of growing importance in the increasingly networked computing environment.This work examines the issue of high-performance network security, specifically integrity, by focusing on integrating security into network storage system. Emphasizing the cost-constrained environment of storage, we examine how current software-based cryptography cannot support storage&apos;s Gigabit/sec transfer rates. To solve this problem, we introduce a novel message authentication code, based on stored message digests. This allows storage to deliver high-performance, a factor of five improvement in our prototype&apos;s integrity protected bandwidth, without hardware acceleration for common read operations. For receivers, where precomputation cannot be done, we outline an inline message authentication code that minimizes buffering requirements. This research is sponsored by DARPA/ITO through DARPA Order D306, and issued by Indian Head Division, NSWC under contract N00174-96-0002. Additional support..

Embedded Security for Network-Attached Storage

As storage interconnects evolve from single-host small-scale systems, such as traditional SCSI, to the multi-host Internet-based systems of Network-attached Secure Disks (NASD), protecting the integrity of data transfers between client and storage becomes essential. However, it is also computationally expensive and can impose significant performance penalties on storage systems. This paper explores several techniques that can protect the communications integrity of storage requests and data transfers, imposing very little performance penalty and significantly reducing the amount of required cryptography. Central to this work is an alternative cryptographic approach, called “Hash and MAC”, that reduces the cost of protecting the integrity of read traffic in storage devices that are unable to generate a message authentication code at full data transfers rates. Hash and MAC does this by precomputing security information, using and reusing the precomputed information on subsequent read requests. We also present a refined “Hash and MAC ” approach that uses incremental hash functions to improve the performance of small read and write operations as well as non-block-aligned operations

Integrity and Performance in Network Attached Storage (CMU-CS-98-182)

Computer security is of growing importance in the increasingly networked computing environment.This work examines the issue of high-performance network security, specifically integrity, by focusing on integrating security into network storage system. Emphasizing the cost-constrained environment of storage, we examine how current software-based cryptography cannot support storage's Gigabit/sec transfer rates. To solve this problem, we introduce a novel message authentication code, based on stored message digests. This allows storage to deliver high-performance, a factor of five improvement in our prototype's integrity protected bandwidth, without hardware acceleration for common read operations. For receivers, where precomputation cannot be done, we outline an inline message authentication code that minimizes buffering requirements

Network support for network-attached storage, Hot Interconnects’1999

Storage systems represent a vital market with storage densities growing at 60%/year, resulting in 35%-50%/year decreases in the cost per byte. In recent years, the amount of storage sold almost doubled each year and is expected t

NASD scalable storage systems

project is to define the next era of storage system interfaces and architectures. To encourage industry standardization of a compliant storage device/subsystem interface, we are working closely with the National Storage Industry Consortium’s working group on network-attached storage. Our experimental demonstration of the NASD interface’s value is device and filesystem prototype software that delivers the scalability inherent in a NASD storage architecture. To engage the academic community and to provide a reference implementation for industry development, CMU is releasing its Linux and Digital UNIX ports of this software. In this paper, we overview the NASD scalable storage architectur