Raymond Y. Wang

Bio: Raymond Y. Wang is an academic researcher from University of California, Irvine. The author has contributed to research in topics: Enzyme replacement therapy & Medicine. The author has an hindex of 23, co-authored 86 publications receiving 2435 citations. Previous affiliations of Raymond Y. Wang include Children's Hospital of Orange County & University of California, Los Angeles.

Broadband communications access device

Abstract: A integrated phone-based home gateway system is disclosed. The integrated phone-based home gateway system includes a broadband communication device, such as digital subscriber line (“DSL”) device, an analog modem, a wireless interface, integrated into a screen-phone for providing broadband communication service to home users. Multiple home users are able to access the Internet and the content services for conducting e-commerce, receiving content news, entertaining on-demand, making audio or video communications, and telecommuting or working at home. This screen-phone based, modular, plug-n-play home gateway interface allows in-home as well as to-home networking, provides automatic data and broadband initialization, configuration and service provisioning, routing and bridging functionality and allows resource sharing among home devices via the existing phone wire, wireless, coaxial or optical cable connections.

Syndromic Ear Anomalies and Renal Ultrasounds

Abstract: Objective. Although many pediatricians pursue renal ultrasonography when patients are noted to have external ear malformations, there is much confusion over which specific ear malformations do and do not require imaging. The objective of this study was to de- lineate characteristics of a child with external ear malfor- mations that suggest a greater risk of renal anomalies. We highlight several multiple congenital anomaly (MCA) syndromes that should be considered in a patient who has both ear and renal anomalies. Methods. Charts of patients who had ear anomalies and were seen for clinical genetics evaluations between 1981 and 2000 at Cedars-Sinai Medical Center in Los Angeles and Dartmouth-Hitchcock Medical Center in New Hampshire were reviewed retrospectively. Only pa- tients who underwent renal ultrasound were included in the chart review. The literature was reviewed for the epidemiology of renal anomalies in the general popula- tion and in MCA syndromes with external ear anomalies. We defined a child as having an external ear anomaly when he or she had any of the following: preauricular pits and tags; microtia; anotia; or cup, lop, and other forms of dysplastic ears. A child was defined as having a renal anomaly if an ultrasound revealed any of the fol- lowing: unilateral or bilateral renal agenesis; hypoplasia; crossed ectopia; horseshoe, pelvic, cystic kidney; hydro- nephrosis; duplicated ureters; megaureter; or vesico- ureteric reflux. Results. Because clinical genetics assessments were made by the same clinician at both sites (J.M.G.), data were combined. A total of 42 patients with ear anomalies received renal ultrasound; 12 (29%) of them displayed renal anomalies. Of the 12 patients with renal anomalies, 11 (92%) also received a diagnosis of MCA syndrome. Eleven of 33 patients (33%) with MCA syndromes had renal anomalies, whereas 1 of 9 patients (11%) with iso- lated ear anomalies had renal anomalies. Specific disor- ders seen were CHARGE association, Townes-Brocks syndrome, branchio-oto-renal syndrome, Nager syn- drome, and diabetic embryopathy. Conclusions. We conclude that ear malformations are associated with an increased frequency of clinically sig- nificant structural renal anomalies compared with the general population. This is due to the observation that auricular malformations often are associated with spe- cific MCA syndromes that have high incidences of renal anomalies. These include CHARGE association, Townes- Brocks syndrome, branchio-oto-renal syndrome, Nager syndrome, Miller syndrome, and diabetic embryopathy. Patients with auricular anomalies should be assessed carefully for accompanying dysmorphic features, includ- ing facial asymmetry; colobomas of the lid, iris, and retina; choanal atresia; jaw hypoplasia; branchial cysts or sinuses; cardiac murmurs; distal limb anomalies; and imperforate or anteriorly placed anus. If any of these features are present, then a renal ultrasound is useful not only in discovering renal anomalies but also in the diag- nosis and management of MCA syndromes themselves. A renal ultrasound should be performed in patients with isolated preauricular pits, cup ears, or any other ear anomaly accompanied by 1 or more of the following: other malformations or dysmorphic features, a family history of deafness, auricular and/or renal malforma- tions, or a maternal history of gestational diabetes. In the absence of these findings, renal ultrasonography is not indicated. Pediatrics 2001;108(2). URL: http://www. pediatrics.org/cgi/content/full/108/2/e32; external ear, re- nal, anomalies, ultrasound.

Integrative analysis of 111 reference human epigenomes

Abstract: The reference human genome sequence set the stage for studies of genetic variation and its association with human disease, but epigenomic studies lack a similar reference. To address this need, the NIH Roadmap Epigenomics Consortium generated the largest collection so far of human epigenomes for primary cells and tissues. Here we describe the integrative analysis of 111 reference human epigenomes generated as part of the programme, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression. We establish global maps of regulatory elements, define regulatory modules of coordinated activity, and their likely activators and repressors. We show that disease- and trait-associated genetic variants are enriched in tissue-specific epigenomic marks, revealing biologically relevant cell types for diverse human traits, and providing a resource for interpreting the molecular basis of human disease. Our results demonstrate the central role of epigenomic information for understanding gene regulation, cellular differentiation and human disease.

Determinants of pulse wave velocity in healthy people and in the presence of cardiovascular risk factors

Abstract: Aims Carotid–femoral pulse wave velocity (PWV), a direct measure of aortic stiffness, has become increasingly important for total cardiovascular (CV) risk estimation. Its application as a routine tool for clinical patient evaluation has been hampered by the absence of reference values. The aim of the present study is to establish reference and normal values for PWV based on a large European population. Methods and results We gathered data from 16 867 subjects and patients from 13 different centres across eight European countries, in which PWV and basic clinical parameters were measured. Of these, 11 092 individuals were free from overt CV disease, non-diabetic and untreated by either anti-hypertensive or lipid-lowering drugs and constituted the reference value population, of which the subset with optimal/normal blood pressures (BPs) (n = 1455) is the normal value population. Prior to data pooling, PWV values were converted to a common standard using established conversion formulae. Subjects were categorized by age decade and further subdivided according to BP categories. Pulse wave velocity increased with age and BP category; the increase with age being more pronounced for higher BP categories and the increase with BP being more important for older subjects. The distribution of PWV with age and BP category is described and reference values for PWV are established. Normal values are proposed based on the PWV values observed in the non-hypertensive subpopulation who had no additional CV risk factors. Conclusion The present study is the first to establish reference and normal values for PWV, combining a sizeable European population after standardizing results for different methods of PWV measurement.

Multi-services application gateway and system employing the same

Abstract: An intelligent gateway device provided at a premise (home or business) for providing and managing application services associated with use and support of a plurality of digital endpoint devices associated with the premises. The device includes a communications and processing infrastructure integrated with a peer and presence messaging based communications protocol for enabling communications between the device and an external support network and between the device and connected digital endpoint devices. A services framework at the gateway device implements the communications and processing infrastructure for enabling service management, service configuration, and authentication of user of services at the intelligent gateway. The framework provides a storage and execution environment for supporting and executing received service logic modules relating to use, management, and support of the digital endpoint devices. Thus, the gateway device provides a network-based services point of presence for a plurality of digital endpoint devices at the premises.

Methods and apparatus for packetized content delivery over a content delivery network

Abstract: Methods and apparatus for delivery of packetized content (e.g., video, audio, data, etc.) over a content delivery network. In one embodiment, the content is packetized using an Internet Protocol (IP), and delivered by a service provider over both managed and unmanaged networks to subscribers of the provider, so as to provide delivery at any time, at any location, and via any designated user device. The delivered content may originate from the service provider, third-party content sources (e.g., networks or studios), the subscriber(s) themselves, or other sources including the Internet. Use of a common control and service functions within the network afford the ability to integrate or blend services together, thereby affording the service provider and subscriber new service and economic opportunities. Content delivery sessions may also be migrated from one device to another. A network-based user interface infrastructure, and gateway-based client-side architecture, are also disclosed.