TERC polymorphisms are associated both with susceptibility to colorectal cancer and with longer telomeres.

Shorter telomeres have been associated with increased risk of malignancy, including colorectal cancer (CRC). Telomere length is heritable and may be an intermediate phenotype linked to genetic susceptibility to CRC

Exome sequencing of an isolated Chilean population affected by Specific Language Impairment (SLI)

Speech and language impairments that are a primary deficit and have no obvious cause (e.g. a comorbid neurological disorder like autism) are diagnosed as Specific Language Impairment (SLI). SLI affects 5–8 % of preschool children and represents a lifelong disability associated with an increased risk of behavioural disorders, social problems and literacy deficits. SLI is highly heritable and twin studies indicate a strong genetic basis. Nonetheless, the underlying genetic mechanisms are expected to be multifactorial and, to date, only three risk variants have been identified. One way to increase the power to detect contributory genetic factors is to study isolated populations derived from relatively recent shared ancestors (founder populations). In 2008, Villanueva described a founder population with a particularly high incidence of SLI (10 times that expected). They inhabit the Robinson Crusoe Island, which lies 677 km to the west of Chile and was colonised in the late 19th century by 8 European and Amerindian families. 77 % of the current island population have a colonising surname and 14 % of marriages involve consanguineous unions. More than 80 % of language impaired individuals can be traced to a pair of founder brothers. This population thus has a short (5-generations) and well documented history and represents a unique resource which could make valuable contributions to the elucidation of genetic mechanisms underpinning SLI. We applied exome sequencing technologies to five language impaired individuals from this population and identified nine nonsynonymous coding changes or splice site mutations that were present in at least three of the five affected individuals sequenced. Sequencing of the entire cohort identified a single non-synonymous coding change that was significantly more frequent in cases than controls (genotype frequencies of 46 and 11 % respectively, p = 4.48 9 10-5). We suggest that this rare coding variant may contribute to the elevated frequency of SLI in this population

Textural properties of synthetic nano-calcite produced by hydrothermal carbonation of calcium hydroxide

The hydrothermal carbonation of calcium hydroxide (Ca(OH)2) at high pressure of CO2 (initial PCO2 1/4 55 bar) and moderate to high temperature (30 and 90 1C) was used to synthesize fine particles of calcite. This method allows a high carbonation efficiency (about 95% of Ca(OH)2-CaCO3 conversion), a significant production rate (48 kg/m3 h) and high purity of product (about 96%). However, the various initial physicochemical conditions have a strong influence on the crystal size and surface area of the synthesized calcite crystals. The present study is focused on the estimation of the textural properties of synthesized calcite (morphology, specific surface area, average particle size, particle size distribution and particle size evolution with reaction time), using Rietveld refinements of X-ray diffraction (XRD) spectra, Brunauer-Emmett-Teller (BET) measurements, and scanning electron microscope (SEM) and transmission electron microscope (TEM) observations. This study demonstrate that the pressure, the temperature and the dissolved quantity of CO2 have a significant effect on the average particle size, specific surface area, initial rate of precipitation, and on the morphology of calcium carbonate crystals. In contrast, these PTx conditions used herein have an insignificant effect on the carbonation efficiency of Ca(OH)2. Finally, the results presented here demonstrate that nano-calcite crystals with high specific surface area (SBET 1/4 6-10m2/g) can be produced, with a high potential for industrial applications such as adsorbents and/or filler in papermaking industry

Admixture in the Hispanics of the San Luis Valley, Colorado, and its implications for complex trait gene mapping

Hispanic populations are a valuable resource that can and should facilitate the identification of complex trait genes by means of admixture mapping (AM). In this paper we focus on a particular Hispanic population living in the San Luis Valley (SLV) in Southern Colorado.We used a set of 22 Ancestry Informative Markers (AIMs) to describe the admixture process and dynamics in this population. AIMs are defined as genetic markers that exhibit allele frequency differences between parental populations ≥30%, and are more informative for studying admixed populations than random markers. The ancestral proportions of the SLV Hispanic population are estimated as 62.7 ± 2.1% European, 34.1 ± 1.9% Native American and 3.2 ± 1.5% West African. We also estimated the ancestral proportions of individuals using these AIMs. Population structure was demonstrated by the excess association of unlinked markers, the correlation between estimates of admixture based on unlinked marker sets, and by a highly significant correlation between individual Native American ancestry and skin pigmentation (R 2 = 0.082, p < 0.001). We discuss the implications of these findings in disease gene mapping efforts.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/65937/1/j.1529-8817.2003.00084.x.pd

Using honey to heal diabetic foot ulcers

Diabetic ulcers seem to be arrested in the inflammatory/proliferative stage of the healing process, allowing infection and inflammation to preclude healing. Antibiotic-resistant bacteria have become a major cause of infections, including diabetic foot infections. It is proposed here that the modern developments of an ancient and traditional treatment for wounds, dressing them with honey, provide the solution to the problem of getting diabetic ulcers to move on from the arrested state of healing. Honeys selected to have a high level of antibacterial activity have been shown to be very effective against antibiotic-resistant strains of bacteria in laboratory and clinical studies. The potent anti-inflammatory action of honey is also likely to play an important part in overcoming the impediment to healing that inflammation causes in diabetic ulcers, as is the antioxidant activity of honey. The action of honey in promotion of tissue regeneration through stimulation of angiogenesis and the growth of fibroblasts and epithelial cells, and its insulin-mimetic effect, would also be of benefit in stimulating the healing of diabetic ulcers. The availability of honey-impregnated dressings which conveniently hold honey in place on ulcers has provided a means of rapidly debriding ulcers and removing the bacterial burden so that good healing rates can be achieved with neuropathic ulcers. With ischemic ulcers, where healing cannot occur because of lack of tissue viability, these honey dressings keep the ulcers clean and prevent infection occurring