Genetic background influences tumour development in heterozygous Men1 knockout mice

Multiple endocrine neoplasia type 1 (MEN1), an autosomal dominant disorder caused by MEN1 germline mutations, is characterised by parathyroid, pancreatic and pituitary tumours. MEN1 mutations also cause familial isolated primary hyperparathyroidism (FIHP), a milder condition causing hyperparathyroidism only. Identical mutations can cause either MEN1 or FIHP in different families, thereby implicating a role for genetic modifiers in altering phenotypic expression of tumours. We therefore investigated the effects of genetic background and potential for genetic modifiers on tumour development in adult Men1+/- mice, which develop tumours of the parathyroids, pancreatic islets, anterior pituitary, adrenal cortex and gonads, that had been backcrossed to generate C57BL/6 and 129S6/SvEv congenic strains. A total of 275 Men1+/- mice, aged 5–26 months were macroscopically studied, and this revealed that genetic background significantly influenced the development of pituitary, adrenal and ovarian tumours, which occurred in mice over 12 months of age and more frequently in C57BL/6 females, 129S6/SvEv males and 129S6/SvEv females, respectively. Moreover, pituitary and adrenal tumours developed earlier, in C57BL/6 males and 129S6/SvEv females, respectively, and pancreatic and testicular tumours developed earlier in 129S6/SvEv males. Furthermore, glucagon-positive staining pancreatic tumours occurred more frequently in 129S6/SvEv Men1+/- mice. Whole genome sequence analysis of 129S6/SvEv and C57BL/6 Men1+/- mice revealed >54,000 different variants in >300 genes. These included, Coq7, Dmpk, Ccne2, Kras, Wnt2b, Il3ra and Tnfrsf10a, and qRT-PCR analysis revealed that Kras was significantly higher in pituitaries of male 129S6/SvEv mice. Thus, our results demonstrate that Kras and other genes could represent possible genetic modifiers of Men1

Impact of Mobile Text Reminders on Medication Compliance

Purpose/Background Patient noncompliance with medication leads to longer and more frequent infections and health issues. Using mobile reminders, patients can be prompted to take their medication, schedule their followup appointments, or fill their prescription to encourage compliance and better overall health. Methods A search of PubMed, LibKey, and EBSCO was conducted. Articles reviewed included meta-analysis, randomized controlled trials, and systematic reviews in the use of mobile reminders on patient compliance, specifically in medication adherence. Then, we reviewed the article methods and outcomes across various health issues addressed. The articles were then reviewed for criteria such as population size, length of study, and health issues addressed before being recorded to a spreadsheet for further analysis. Results The articles included 4 randomized controlled trials, 2 clinical trials, and 1 systematic review. Per the articles, the most effective methods to increase the rate of compliance are behavior change techniques, improving general T2DM care, providing evidence-based informational leaflets about direct reminders to patients, incorporating direct reminder systems into primary care appointments, and adding a point-of-care reminder to the electronic medical record. Interventions that did not improve adherence were financial incentives and printed reminders to the PCPs. Implications for Nursing Practice Further studies are needed, especially with longer length of study, the results tend to be beneficial. Selected studies showed that there was at least some degree of improvement in patient compliance though not all were able to say there was a positive effect on long term health. These results are promising and promote continued research on implementing technology to improve health outcomes

Variability of the Spectral Energy Distribution of the Blazar S5 0716+714

The emission from blazars is known to be variable at all wavelengths. The flux variability is often accompanied by spectral changes. Spectral energy distribution (SED) changes must be associated with changes in the spectra of emitting electrons and/or the physical parameters of the jet. Meaningful modeling of blazar broadband spectra is required to understand the extreme conditions within the emission region. Not only is the broadband SED crucial, but also information about its variability is needed to understand how the highest states of emission occur and how they differ from the low states. This may help in discriminating between models. Here we present the results of our SED modeling of the blazar S5 0716+714 during various phases of its activity. The SEDs are classified into different bins depending on the optical brightness state of the source.Comment: 4 pages, 3 figures, contributed talk presented at the conference Multifrequency Variability of Blazars, Guangzhou, China, September 22-24, 2010. To appear in Journal of Astrophysics and Astronomy (JAA

Design and applicability of DNA arrays and DNA barcodes in biodiversity monitoring

<p>Abstract</p> <p>Background</p> <p>The rapid and accurate identification of species is a critical component of large-scale biodiversity monitoring programs. DNA arrays (micro and macro) and DNA barcodes are two molecular approaches that have recently garnered much attention. Here, we compare these two platforms for identification of an important group, the mammals.</p> <p>Results</p> <p>Our analyses, based on the two commonly used mitochondrial genes cytochrome <it>c </it>oxidase I (the standard DNA barcode for animal species) and cytochrome b (a common species-level marker), suggest that both arrays and barcodes are capable of discriminating mammalian species with high accuracy. We used three different datasets of mammalian species, comprising different sampling strategies. For DNA arrays we designed three probes for each species to address intraspecific variation. As for DNA barcoding, our analyses show that both cytochrome <it>c </it>oxidase I and cytochrome b genes, and even smaller fragments of them (mini-barcodes) can successfully discriminate species in a wide variety of specimens.</p> <p>Conclusion</p> <p>This study showed that DNA arrays and DNA barcodes are valuable molecular methods for biodiversity monitoring programs. Both approaches were capable of discriminating among mammalian species in our test assemblages. However, because designing DNA arrays require advance knowledge of target sequences, the use of this approach could be limited in large scale monitoring programs where unknown haplotypes might be encountered. DNA barcodes, by contrast, are sequencing-based and therefore could provide more flexibility in large-scale studies.</p

Subclinical myocardial disease by cardiac magnetic resonance imaging and spectroscopy in healthy HIV/Hepatitis C virus-coinfected persons.

Objective The contribution of hepatitis C virus (HCV) infection to the risk of heart failure in human immunodeficiency virus (HIV)-coinfected persons is unknown. The objective was to characterize cardiac function and morphology in HIV-treated coinfected persons. Methods In a cross-sectional study, HIV-infected patients virologically suppressed on antiretroviral therapy without known cardiovascular disease or diabetes mellitus underwent cardiac magnetic resonance imaging and spectroscopy for measures of cardiac function, myocardial fibrosis, and steatosis. Results The study included 18 male patients with a median age of 44 years. Of these, 10 had untreated HCV coinfection and eight had HIV monoinfection. Global systolic and diastolic function in the cohort were normal, and median myocardial fat content was 0.48% (interquartile range 0.35-1.54). Left ventricular (LV) mass index and LV mass/volume ratio were significantly greater in the HIV/HCV-coinfected group compared with the HIV-monoinfected group. In the HIV-monoinfected group, there was more myocardial fibrosis as measured by extracellular volume fraction. Conclusions There were differences between HIV/HCV-coinfected and HIV-monoinfected patients in cardiac structure and morphology. Larger studies are needed to examine whether HIV and HCV independently contribute to mechanisms of heart failure

The costs and potential savings of a novel telepaediatric service in Queensland

BACKGROUND: There are few cost-minimisation studies in telemedicine. We have compared the actual costs of providing a telepaediatric service to the potential costs if patients had travelled to see the specialist in person. METHODS: In November 2000, we established a novel telepaediatric service for selected regional hospitals in Queensland. Instead of transferring patients to Brisbane, the majority of referrals to specialists in Brisbane were dealt with via videoconference. Since the service began, 1499 consultations have been conducted for a broad range of paediatric sub-specialities including burns, cardiology, child development, dermatology, diabetes, endocrinology, gastroenterology, nephrology, neurology, oncology, orthopaedics, paediatric surgery and psychiatry. RESULTS: During a five year period, the total cost of providing 1499 consultations through the telepaediatric service was A$955,996. The estimated potential cost of providing an outpatient service to the same number of patients at the Royal Children's Hospital in Brisbane was A$1,553,264; thus, telepaediatric services resulted in a net saving of approximately A$600,000 to the health service provider. CONCLUSION: Telepaediatrics was a cheaper method for the delivery of outpatient services when the workload exceeded 774 consultations. A sensitivity analysis showed that the threshold point was most sensitive to changes related to patient travel costs, coordinator salaries and videoconference equipment costs. The study showed substantial savings for the health department, mainly due to reduced costs associated with patient travel

A universal DNA mini-barcode for biodiversity analysis

<p>Abstract</p> <p>Background</p> <p>The goal of DNA barcoding is to develop a species-specific sequence library for all eukaryotes. A 650 bp fragment of the cytochrome <it>c </it>oxidase 1 (CO1) gene has been used successfully for species-level identification in several animal groups. It may be difficult in practice, however, to retrieve a 650 bp fragment from archival specimens, (because of DNA degradation) or from environmental samples (where universal primers are needed).</p> <p>Results</p> <p>We used a bioinformatics analysis using all CO1 barcode sequences from GenBank and calculated the probability of having species-specific barcodes for varied size fragments. This analysis established the potential of much smaller fragments, mini-barcodes, for identifying unknown specimens. We then developed a universal primer set for the amplification of mini-barcodes. We further successfully tested the utility of this primer set on a comprehensive set of taxa from all major eukaryotic groups as well as archival specimens.</p> <p>Conclusion</p> <p>In this study we address the important issue of minimum amount of sequence information required for identifying species in DNA barcoding. We establish a novel approach based on a much shorter barcode sequence and demonstrate its effectiveness in archival specimens. This approach will significantly broaden the application of DNA barcoding in biodiversity studies.</p

A cost minimisation analysis of a telepaediatric otolaryngology service

Background: Paediatric ENT services in regional areas can be provided through telemedicine (tele-ENT) using videoconferencing or with a conventional outpatient department ENT service (OPD-ENT) in which patients travel to see the specialist. The objective of this study was to identify the least-cost approach to providing ENT services for paediatric outpatients

Introducing a new breed of wine yeast: interspecific hybridisation between a commercial Saccharomyces cerevisiae wine yeast and Saccharomyces mikatae

Interspecific hybrids are commonplace in agriculture and horticulture; bread wheat and grapefruit are but two examples. The benefits derived from interspecific hybridisation include the potential of generating advantageous transgressive phenotypes. This paper describes the generation of a new breed of wine yeast by interspecific hybridisation between a commercial Saccharomyces cerevisiae wine yeast strain and Saccharomyces mikatae, a species hitherto not associated with industrial fermentation environs. While commercially available wine yeast strains provide consistent and reliable fermentations, wines produced using single inocula are thought to lack the sensory complexity and rounded palate structure obtained from spontaneous fermentations. In contrast, interspecific yeast hybrids have the potential to deliver increased complexity to wine sensory properties and alternative wine styles through the formation of novel, and wider ranging, yeast volatile fermentation metabolite profiles, whilst maintaining the robustness of the wine yeast parent. Screening of newly generated hybrids from a cross between a S. cerevisiae wine yeast and S. mikatae (closely-related but ecologically distant members of the Saccharomyces sensu stricto clade), has identified progeny with robust fermentation properties and winemaking potential. Chemical analysis showed that, relative to the S. cerevisiae wine yeast parent, hybrids produced wines with different concentrations of volatile metabolites that are known to contribute to wine flavour and aroma, including flavour compounds associated with non-Saccharomyces species. The new S. cerevisiae x S. mikatae hybrids have the potential to produce complex wines akin to products of spontaneous fermentation while giving winemakers the safeguard of an inoculated ferment.Jennifer R. Bellon, Frank Schmid, Dimitra L. Capone, Barbara L. Dunn, Paul J. Chamber