CIL 3.6085 – Funerary chest of Titus Valerius Secundus

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Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene

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.

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

We characterized the mutational landscape of melanoma, the form of skin cancer with the highest mortality rate, by sequencing the exomes of 147 melanomas. Sun-exposed melanomas had markedly more ultraviolet (UV)-like C>T somatic mutations compared to sun-shielded acral, mucosal and uveal melanomas. Among the newly identified cancer genes was PPP6C, encoding a serine/threonine phosphatase, which harbored mutations that clustered in the active site in 12% of sun-exposed melanomas, exclusively in tumors with mutations in BRAF or NRAS. Notably, we identified a recurrent UV-signature, an activating mutation in RAC1 in 9.2% of sun-exposed melanomas. This activating mutation, the third most frequent in our cohort of sun-exposed melanoma after those of BRAF and NRAS, changes Pro29 to serine (RAC1P29S) in the highly conserved switch I domain. Crystal structures, and biochemical and functional studies of RAC1P29S showed that the alteration releases the conformational restraint conferred by the conserved proline, causes an increased binding of the protein to downstream effectors, and promotes melanocyte proliferation and migration. These findings raise the possibility that pharmacological inhibition of downstream effectors of RAC1 signaling could be of therapeutic benefit.

Corneal confocal microscopy detects early nerve regeneration in diabetic neuropathy after simultaneous pancreas and kidney transplantation

Diabetic neuropathy is associated with increased morbidity and mortality. To date, limited data in subjects with impaired glucose tolerance and diabetes demonstrate nerve fiber repair after intervention. This may reflect a lack of efficacy of the interventions but may also reflect difficulty of the tests currently deployed to adequately assess nerve fiber repair, particularly in short-term studies. Corneal confocal microscopy (CCM) represents a novel noninvasive means to quantify nerve fiber damage and repair. Fifteen type 1 diabetic patients undergoing simultaneous pancreas-kidney transplantation (SPK) underwent detailed assessment of neurologic deficits, quantitative sensory testing (QST), electrophysiology, skin biopsy, corneal sensitivity, and CCM at baseline and at 6 and 12 months after successful SPK. At baseline, diabetic patients had a significant neuropathy compared with control subjects. After successful SPK there was no significant change in neurologic impairment, neurophysiology, QST, corneal sensitivity, and intraepidermal nerve fiber density (IENFD). However, CCM demonstrated significant improvements in corneal nerve fiber density, branch density, and length at 12 months. Normalization of glycemia after SPK shows no significant improvement in neuropathy assessed by the neurologic deficits, QST, electrophysiology, and IENFD. However, CCM shows a significant improvement in nerve morphology, providing a novel noninvasive means to establish early nerve repair that is missed by currently advocated assessment techniques.

Music industry

The music industry is usually structured into three industry sectors: live music, music licensing, and recorded music. Live music and recorded music are primarily consumer businesses where revenues are generated consumers who buy CDs or concert tickets. The licensing industry on the other hand is a business-to-business industry where companies pay music rights owners for the use of their musics in various contexts, e.g. background music in shops, music in advertising, or music in broadcast radio...

Thermal Crystallization Studies On Ga-Te Glasses

Semieonducting GaxTe~oo-x (17 -< x _< 25) glasses have been prepared by melt quenching method and thermal crystallization studies carried out using differential scanning calorimetry. On heating, virgin GaxTel0o-x glasses exhibit one glass transition and two crystallization reactions.The first crystallization reaction corresponds to the precipitation of hexagonal Te and the second one to the crystallization of the matrix into zinc blende Ga2Te3 phase. If GaxTeloo-x glasses are quenched to ambient temperature from Tcrl and reheated, they exhibit the phenomenon of double glass transition.

Metallization and crystallization of semiconducting amorphous Ga20Te80 alloy under high pressure

Pressure and temperature dependence of the electrical resistivity of amorphous Ga20Te80 alloy is reported for the first time. The alloy undergoes a pressure induced amorphous semiconductor-to-crystalline metal phase transition at 6.5 ± 0.5 GPa. The high pressure crystalline phase is a mixture of Te and GaTe3 phases.

New synonymies for Australian Cleridae (Coleoptera)

The following synonymies are proposed based on examination of primary types (lectotypes are designated for all taxa except those marked with a '*'): Lemidia spinnipennis Lea, 1907 syn. n. and Lemidia bicolor Schenkling, 1906 syn. n. = Lemidia biaculeata (Westwood); Lemidia mastersi Lea, 1907 syn. n. = Lemidia circumcincta Schenkling, 1906; Lemidia albonotata Pic, 1941 syn. n. = Lemidia laticeps Lea, 1907; Lemidia australiae Lea, 1907 syn. n. = Lemidia maculata Schenkling, 1902; Lemidia bilineatra Lea, 1907 syn. n. = Lemidia maculicollis Gorham, 1877; Lemidia decolor Pic, 1941 syn. n. = Lemidia munda Blackburn, 1892; *Phlogistus conspiciendus Elston, 1926 syn. n. = Mimolesterus ventralis (Westwood); Thanasimus cursorius Westwood, 1853 syn. n. and Stigmatium dispar Kuwert, 1894 syn. n. = Stigmatium acerbum (Newman); Stigmatium fasciatoventre Chevrolat, 1874 syn. n., Stigmatium flavescens Chevrolat, 1874 syn. n. and *Xestonotus eximius Kuwert, 1894 syn. n. = Stigmatium laevium Macleay, 1872; Stigmatium versipelle Gorham, 1876 syn. n. and Xestonotus (Cyclotomocerus) australicus Kuwert, 1894 syn. n. = Stigmatium varipes Chevrolat, 1876; Tarsostenus pulcher Macleay, 1872 syn. n. = *Tarsostenus carus (Newman, 1840). The available name Tarsosternus pulcher Macleay, 1872 is deemed a lapsus calami and emended to Tarsostenus pulcher Macleay, 1872.

“Well this is it. Just get on with it”: Pain willingness and activity engagement in people with chronic pain

Pain is recognised as a problem of significant concern worldwide and in the latest Global Burden of Disease Study, low back pain was identified as the biggest contributor worldwide to Years Lived with Disability. There is evidence to suggest that people who accept their chronic pain have a higher quality of life, lower levels of disability and distress, and function better emotionally, socially and physically. Findings on the specific pathways linking pain acceptance to quality of life outcomes are less clear. the two widely accepted pain acceptance factors, pain willingness and activity engagement, have not been well explored in qualitative studies on acceptance of chronic pain. To address this deficit in the literature, the current study has two related aims: 1) to explore pain willingness and activity engagement in the lives of people with chronic pain, and ; 2) to find out what people believe helps them to successfully get on with life in spite of chronic pain.

Photoacoustic Investigation of Glass Transition in AsxTe1-x Glasses

Photoacoustic (PA) technique is used to study glass transition and temperature dependence of thermal diffusivity in AsxTe1-x glasses with 0.25 0.60. PA amplitude goes through a minimum and the phase shows a maximum at glass transition temperature Tg. The variation of thermal diffusivity with temperature shows sharp decrease near Tg. The variation of thermal diffusivity with composition shows maximum at = 0.40 for all temperatures T Tg.

Compositional dependence of crystallization of As-Te glasses

Thermal crystallization studies have been carried out on bulk, semiconducting AsxTe100−x glasses of different compositions using Differential Scanning Caloritmery. AsxTe100−x glasses with x < 40, are found to exhibit one glass transition and one crystallization. On the other hand, glasses with composition 40 less-than-or-equals, slantxless-than-or-equals, slant 50 show one glass transition and two crystallization reactions. It has been found that in glasses with x greater-or-equal, slanted 40, the two crystallization reactions progressively merge with an increase in arsenic concentration. Consequently AsxTe100−x glasses with x greater-or-equal, slanted 50 show only one crystallization. The composition dependence of crystallization temperatures and activation energies for crystallization estimated by Kissinger's method, show marked deviations at a composition x = 40. These observations can be explained in terms of the changes in the local structure of the material with composition.

Effect of High Pressure on the Electrical Conductivity of TlInX2 (X = Se, Te) Layered Semiconductors

The dc electrical conductivity of TlInX2 (X = Se, Te) single crystals, parallel and perpendicular to the (001) c-axis is studied under high quasi-hydrostatic pressure up to 7.0 GPa, at room temperature. Conductivity measurements parallel to the c-axis are carried out at high pressures and down to liquid nitrogen temperatures. These materials show continuous metallization under pressure. Both compounds have almost the same pressure coefficient of the electrical activation energy parallel to the c-axis, d(ΔE∥)/dP = −2.9 × 10−10 eV/Pa, which results from the narrowing of the band gap under pressure. The results are discussed in the light of the band structure of these compounds.

Electrical switching and short-range order in As-Te glasses

The local structural order in chalcogenide network glasses is known to change markedly at two critical compositions, namely, the percolation and chemical thresholds. In the AsxTe100-x glassy system, both the thresholds coincide at the composition x = 40 (40 at. % of arsenic). It is demonstrated that the electrical switching fields of As-Te glasses exhibit a distinct change at this composition.

The role of women in marketing of frozen fish in Lagos State of Nigeria

The involvement of women in the marketing of frozen fish in Lagos State (Nigeria) was examined in this study. Two hundred questionnaires were administered to fish marketers in five markets randomly selected within the Lagos metropolis based on their storage capacities. These markets were Balogun (500 tones), Idumagbo and Idumota (250 tonnes each) Obalende and Epetedo (37.5 tonnes each). From the study results, a greater percentage of women (64.2%) are actively involved in marketing of frozen fish in the study areas. Over 56% of these traders are retailers while about 33% are wholesalers. More than 91% of the marketers were found to be literate. A high percentage of the frozen fish are imported (68%), 27% from coastal fishing and 5% from riverine fishing. The commonest fish in the markets were titus (34%), sardine (32%), hake 19%, catfish 10% and argentine 5%. Catfish has the highest profit margin. The greatest problem of these traders is the lack of modern storage facilities and where available, the erratic power supply constitutes a problem

Coastal plant growth and CO2 enrichment: Can the productivity of black needle rush keep pace with sea level rise?

The rate of sea level change has varied considerably over geological time, with rapid increases (0.25 cm yr-1) at the end of the last ice age to more modest increases over the last 4,000 years (0.04 cm yr-1; Hendry 1993). Due to anthropogenic contributions to climate change, however, the rate of sea level rise is expected to increase between 0.10 and 0.25 cm year-1 for many coastal areas (Warrick et al. 1996). Notwithstanding, it has been predicted that over the next 100 years, sea levels along the northeastern coast of North Carolina may increase by an astonishing 0.8 m (0.8 cm yr-1); through a combination of sea-level rise and coastal subsidence (Titus and Richman 2001; Parham et al. 2006). As North Carolina ranks third in the United States with land at or just above sea level, any additional sea rise may promote further deterioration of vital coastal wetland systems. (PDF contains 4 pages)