An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21

In our efforts to identify new loci responsible for non-syndromic autosomal recessive forms of deafness, DFNB loci, we have pursued the analysis of large consanguineous affected families living in geographically isolated areas. Here, we report on the study of a Lebanese family comprising nine members presenting with a pre-lingual severe to profound sensorineural isolated form of deafness. Linkage analysis led to the characterization of a new locus, DFNB21, which was assigned to chromosome 11q23-25. Already mapped to this chromosomal region was TECTA. This gene encodes alpha-tectorin, a 2155 amino acid protein which is a component of the tectorial membrane. This gene recently has been shown to be responsible for a dominant form of deafness, DFNA8/12. Sequence analysis of the TECTA gene in the DFNB21-affected family revealed a G to A transition in the donor splice site (GT) of intron 9, predicted to lead to a truncated protein of 971 amino acids. This establishes that alpha-tectorin mutations can be responsible for both dominant and recessive forms of deafness. Comparison of the phenotype of the DFNB21 heterozygous carriers with that of DFNA8/12-affected individuals supports the hypothesis that the TECTA mutations which cause the dominant form of deafness have a dominant-negative effect. The present results provide genetic evidence for alpha-tectorin forming homo- or heteromeric structures.     

Water and the CGIAR: A Strategic Framework

Abstract

Among the many institutions addressing development issues at the international level, the 16 research centers of the Consultative Group of International Agricultural Research (CGIAR) focus on the goal of reducing poverty, hunger, and malnutrition by sustainably increasing productivity of resources in agriculture, forestry, and fisheries. The CGIAR has certain comparative advantages in carrying work in water at the various scales, from the farm up to global, that should be offered to the international community. This discussion paper addresses the question: what are the major water issues relevant to the CGIAR goal? The paper also presents a justification of the research needs and opportunities as well as some initial ideas for the development of a specific research agenda on each area. While other international organizations are very active in many international initiatives, the CGIAR is one of the few that could contribute much needed research information in many world areas. The CGIAR must focus more on water in relation to the plight of the poor in particular. There is a need to increase the adaptive capacity of the poor, and to manage the water supply and quality constraints. This could be achieved by focusing at the community level and by developing inexpensive, easy to use monitoring tools that would alert the communities of forthcoming problems and provide them with means to take remedial action. This action is often needed long before there is any hope of changes in policy and other macro-level interventions. The fundamental issue of water as a food requires that attention be given to the quantity and quality of water available for domestic use in poor households and communities. Health issues associated with domestic supply and with irrigation management have been important research themes in the CGIAR and demand increasing attention. Given the current composition, activitiesm and comparative advantages of the CGIAR, it is proposed that research on water management should focus on the following four broad general areas: (1) improving the efficiency of water use in agriculture through increased water productivity; (2) management of watersheds for multiple functions; (3) management of aquatic ecosystems, in particular those sharing boundaries with terrestrial ecosystems; and (4) policy and institutional aspects of water management. As the aim of water management research is to address water constraints and issues in an integrated manner, the four areas cannot be treated in isolation from each other. There is thus a need for the fifth area for achieving integration at and across different scales.     

Keratinocyte differentiation is stimulated by activators of the nuclear hormone receptor PPARalpha

BACKGROUND: A patient's likelihood of dying from breast cancer or another cause can be assessed with competing risks analyses. METHODS: Data for a cohort of 678 patients with primary invasive breast cancer accrued from 1971 to 1990, updated to 1995, included cause of death (e.g., breast cancer vs. other cause). We investigated the effects of age, tumor size, nodal status, ER, PgR, and adjuvant therapy (hormones, chemotherapy, radiotherapy) on type of death and time to death for patients of all ages and for those over the age of 65 years. RESULTS: Although there were no significant univariate differences in breast cancer death rates by age group (P=0.94), more patients over the age of 65 years died from other causes (41/207 [20%] of those older than 65 years vs. 16/471 [3%] of those younger than 65 years; P <.001). In competing risks analyses, older age was associated with non-breast cancer death, whereas larger tumor size was associated with breast cancer death. PgR was positively, and nodal status negatively, associated with survival, regardless of type. In the older patient group, the competing risks analyses identified similar effects for age and tumor size; in addition, higher ER assay values were less likely to be associated with breast cancer death. CONCLUSIONS: With increased lifespan, there will be more breast cancer cases in women older than 65 years; we have shown that women in this group have more non-breast cancer deaths. It becomes important, then, to delineate differential effects of prognostic factors on competing causes of death.     

Wireless Sensor Networks in IPv4/IPv6 Transition Scenarios

The wireless sensor networks (WSNs) concept was appeared in the middle of 90s and have been a subject under intensive research in the past few years. Several factors have contributed to this, but the potential for application of WSNs in almost every aspect of day-to-day life is the predominant one. This type of networks has been developed using proprietary solutions instead of standard solutions. More recently, the importance of standards motivated the use of IETF standards in WSNs, making the Internet integration easier. However, more efforts are necessary in order to provide a full integration. The WSNs use mainly IPv6 protocol, but the IPv4 is the predominant one in the Internet. As a consequence, IPv4 to IPv6 transition mechanisms must be provided to allow the interaction between all Internet connected devices independently of the supported IP version. It is also critical to provide a standard application interface to make easier the application development and independently of the hardware platform used. The RESTfull Web services can provide this standard interface. So, combine RESTfull Web services with IPv4 to IPv6 transition mechanisms can increase the WSN services dissemination. The transition mechanisms and the REST Web services are supported in the gateway in order to save the wireless sensor device resources’. The smartphone with Internet connectivity can also be the drive to the WSNs growth, because user-friendly applications can be used to retrieve and collect sensed data. This paper proposes a solution based on REST web services to permit the interaction between a mobile application and the IPv6 compliant WSN.     

Reprocessing high‐flux polysulfone dialyzers does not negatively impact solute removal in short‐daily online hemodiafiltration

There are no studies evaluating the impact of dialyzer reprocessing on solute removal in short‐daily online hemodiafiltration (OL‐HDF). Our aim was to evaluate the impact of dialyzer reuse on solute removal in daily OL‐HDF and compare with that in high‐flux short‐daily hemodialysis (SDH). Fourteen patients undergoing a SDH program were included. Pre‐dialysis and post‐dialysis blood samples and effluent dialysate were collected in the 1st, 7th, and 13th dialyzer uses in SDH sessions and in daily OL‐HDF sessions. Directly quantified small solute (urea, phosphorus, creatinine, and uric acid) total mass removal (TM_DQ) and clearance (K_DQ) were similar when the 1st, 7th, and 13th dialyzer SDH uses were compared with the 1st, 7th, and 13th daily OL‐HDF uses. TM_DQ and K_DQ of small solutes were similar among analyzed dialyzer uses in SDH sessions and in daily OL‐HDF sessions. β₂‐Microglobulin TM_DQ and K_DQ were statistically higher in daily OL‐HDF dialyzer uses than in the respective SDH uses. There was no difference in β₂‐microglobulin TM_DQ and K_DQ among dialyzer uses in daily OL‐HDF sessions or in SDH sessions. In daily OL‐HDF, albumin loss was significantly different among dialyzer uses (P < 0.001), being lower in the 7th and 13th dialyzer uses than in the first use. Dialyzer reprocessing did not impair solute extraction in daily OL‐HDF. β₂‐Microglobulin removal was greater in daily OL‐HDF than in SDH sessions, without significant differences in other solutes extraction. There was a significant reduction in intradialytic albumin loss with dialyzer reprocessing in daily OL‐HDF sessions.     

A review of self-assembled monolayers as potential terahertz frequency tunnel diodes

In this review, we describe the principles of the tunnel junction, self-assembled monolayer （SAM） application techniques, experimental testbed fabrication, and characterization of the films and devices. In addition, techniques for directed application, removal, and functionalization of the monolayers are discussed. Bottom-up fabrication techniques have seen increased attention because of their versatility and ease of use. These films see mechanical uses as surface modifiers and micro-scale lubricants. Advances in nanowatt electronics and ultra-low power sensors have opened up an energy harvesting niche for solutions which would have proven ineffective just some years ago. The focus of this study is the two- terminal junction which has potential applications in THz rectification for energy harvesting, medical imaging, and defense sensing. The quantum theory of operation behind these devices is touched on briefly---describing tunneling through the organic monolayers. Commentary on trends in research and potential future work are presented as well.     

A colored avocado seed extract as a potential natural colorant

There is an increasing consumer demand for and scientific interest in new natural colorants. Avocado (Persea americana) seed when crushed with water develops an orange color (= 480 nm) in a time-dependent manner. Heat treatment of the seed prevented color development, whereas the addition of exogenous polyphenol oxidase (PPO), but not peroxidase restored color development. Color development was also inhibited by the addition of tropolone, an inhibitor of PPO. Color formation resulted in a decrease in the concentration of polyphenols indicating utilization for color formation. The orange color intensified as the pH was adjusted from 2.0 to 11.0, and these changes were only partially reversible when pH was adjusted from 7.5 to 11.0 in the presence of oxygen, but completely reversible when the pH was changed in the absence of oxygen. The color was found to be stable in solution at -18 °C for 2 mo. These results suggest that the avocado seed may be a potential source of natural colorant, and that color development is PPO-dependent. PRACTICAL APPLICATION: There is growing public and scientific interest in the development of natural alternatives to synthetic colorants in foods. Extracts of turmeric, paprika, and beets are examples of food-derived natural colorants. Avocado seeds, which represent an under-utilized waste stream, form a stable orange color when crushed in the presence of air. Our data indicate that avocado seed represents a potential source of new natural colorants for use in foods.