Genetic mapping of a new heart rate QTL on chromosome 8 of spontaneously hypertensive rats

BACKGROUND: Tachycardia is commonly observed in hypertensive patients, predominantly mediated by regulatory mechanisms integrated within the autonomic nervous system. The genetic loci and genes associated with increased heart rate in hypertension, however, have not yet been identified. METHODS: An F2 intercross of Spontaneously Hypertensive Rats (SHR) × Brown Norway (BN) linkage analysis of quantitative trait loci mapping was utilized to identify candidate genes associated with an increased heart rate in arterial hypertension. RESULTS: Basal heart rate in SHR was higher compared to that of normotensive BN rats (365 ± 3 vs. 314 ± 6 bpm, p < 0.05 for SHR and BN, respectively). A total genome scan identified one quantitative trait locus in a 6.78 cM interval on rat chromosome 8 (8q22–q24) that was responsible for elevated heart rate. This interval contained 241 genes, of which 65 are known genes. CONCLUSION: Our data suggest that an influential genetic region located on the rat chromosome 8 contributes to the regulation of heart rate. Candidate genes that have previously been associated with tachycardia and/or hypertension were found within this QTL, strengthening our hypothesis that these genes are, potentially, associated with the increase in heart rate in a hypertension rat model

Screening of high risk infants for metabolic disease in a metropolitan hospital

Screening of symptomatic infants for metabolic diseases is described which led to an improved detection rate because of better awareness and case selection, as well as the use of a test for urinary organic acids.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147121/1/jimd0081.pd

Wechselwirkungen zwischen Systemvariablen und Produktionskrankheiten auf ökologischen Milchviehbetrieben

Production diseases (PDs) emerge from complex interactions between a multitude of variables. In order to prevent and control PDs, measures need to be taken that are likely to be effective in the farm context. In this study, an impact analysis was performed on 60 organic dairy farms in Germany to assess the relationships between 13 system variables and to determine factors with a large impact on PDs. Direct impacts were estimated during a round-table discussion between farmer, veterinarian and advisor using an impact matrix. Indirect impacts were computed and evaluated by graph analysis. Across farms, feeding, hygiene, and treatment had the highest direct impact on PDs, whereas knowledge and skills, herd health monitoring, and dry cow management were most influential considering indirect impacts. Despite these general tendencies, there was great variation between farms regarding their most influential variables. By enabling system understanding and identifying farm areas where improvement measures are most likely to have an effect, the presented approach is expected to considerably support decision-making with respect to animal health management

Bacterial Inoculation Strategies for the Achievement of Malolactic Fermentation in High-alcohol Wines

The purpose of this work was to study the induction of malolactic fermentation (MLF) in a wine that does not oftensupport malic acid deacidification because of its high alcohol content. Amarone wine, known for its high alcoholcontent, served as a model. Simultaneous and sequential alcoholic and malolactic fermentation (AF/MLF) wereconducted by direct inoculation of bacteria, which resulted in successful MLF in wines containing approximately16% (v/v) alcohol. At higher ethanol contents, stuck MLF occurred because of growth inhibition. To overcomethis technological problem, the performance of bacteria was tested in wine containing approximately 17% (v/v)ethanol using a starter preparation consisting of cells acclimatised in a wine-water solution (1:1) for 24 h and 48h respectively. Total l-malic acid depletion was recorded when the bacterial cells that had been acclimatised for48 h were inoculated simultaneously with yeast to conduct AF. The method by which the bacterial cultures areprepared and the time of inoculation affects the efficacy of MLF in high-alcohol wines. The inoculation of yeastswith acclimatised bacteria before AF seems to be a valid strategy to obtain complete MLF in high-alcohol wines

Lesbian and bisexual women's experiences of sexuality-based discrimination and their appearance concerns

Lesbian and bisexual women frequently experience sexuality-based discrimination, which is often based on others' judgements about their appearance. This short article aims to explore whether there is a relationship between lesbian and bisexual women's experiences of sexuality-based discrimination and their satisfaction with the way that they look. Findings from an online survey suggest that discrimination is negatively related to appearance satisfaction for lesbian women, but not for bisexual women. It is argued that this difference exists because lesbian appearance norms are more recognisable and distinctive than bisexual women's appearance norms

Damaging de novo mutations diminish motor skills in children on the autism spectrum

In individuals with autism spectrum disorder (ASD), de novo mutations have previously been shown to be significantly correlated with lower IQ but not with the core characteristics of ASD: deficits in social communication and interaction and restricted interests and repetitive patterns of behavior. We extend these findings by demonstrating in the Simons Simplex Collection that damaging de novo mutations in ASD individuals are also significantly and convincingly correlated with measures of impaired motor skills. This correlation is not explained by a correlation between IQ and motor skills. We find that IQ and motor skills are distinctly associated with damaging mutations and, in particular, that motor skills are a more sensitive indicator of mutational severity than is IQ, as judged by mutational type and target gene. We use this finding to propose a combined classification of phenotypic severity: mild (little impairment of either), moderate (impairment mainly to motor skills), and severe (impairment of both IQ and motor skills)

Matrix-free calcium in isolated chromaffin vesicles

Isolated secretory vesicles from bovine adrenal medulla contain 80 nmol of Ca2+ and 25 nmol of Mg2+ per milligram of protein. As determined with a Ca2+-selective electrode, a further accumulation of about 160 nmol of Ca2+/mg of protein can be attained upon addition of the Ca2+ ionophore A23187. During this process protons are released from the vesicles, in exchange for Ca2+ ions, as indicated by the decrease of the pH in the incubation medium or the release of 9-aminoacridine previously taken up by the vesicles. Intravesicular Mg2+ is not released from the vesicles by A23 187, as determined by atomic emission spectroscopy. In the presence of N H Q , which causes the collapse of the secretory vesicle transmembrane proton gradient (ApH), Ca2+ uptake decreases. Under these conditions A23 187-mediated influx of Ca2+ and efflux of H+ cease at Ca2+ concentrations of about 4 pM. Below this concentration Ca2+ is even released from the vesicles. At the Ca2+ concentration at which no net flux of ions occurs the intravesicular matrix free Ca2+ equals the extravesicular free Ca2+. In the absence of NH4C1 we determined an intravesicular pH of 6.2. Under these conditions the Ca2+ influx ceases around 0.15 pM. From this value and the known pH across the vesicular membrane an intravesicular matrix free Ca2+ concentration of about 24 pM was calculated. This is within the same order of magnitude as the concentration of free Ca2+ in the vesicles determined in the presence of NH4C1. Calculation of the total Ca2+ present in the secretory vesicles gives an apparent intravesicular Ca2+ concentration of 40 mM, which is a factor of lo4 higher than the free intravesicular concentration of Ca2+. It can be concluded, therefore, that the concentration gradient of free Ca2+ across the secretory vesicle membrane in the intact chromaffin cells is probably small, which implies that less energy is required to accumulate and maintain Ca2+ within the vesicles than was previously anticipated

Early Biometric Lag in the Prediction of Small for Gestational Age Neonates and Preeclampsia

OBJECTIVE: An early fetal growth lag may be a marker of future complications. We sought to determine the utility of early biometric variables in predicting adverse pregnancy outcomes. METHODS: In this retrospective cohort study, the crown-rump length at 11 to 14 weeks and the head circumference, biparietal diameter, abdominal circumference, femur length, humerus length, transverse cerebellar diameter, and estimated fetal weight at 18 to 24 weeks were converted to an estimated gestational age using published regression formulas. Sonographic fetal growth (difference between each biometric gestational age and the crown-rump length gestational age) minus expected fetal growth (number of days elapsed between the two scans) yielded the biometric growth lag. These lags were tested as predictors of small for gestational age (SGA) neonates (≤10th percentile) and preeclampsia. RESULTS: A total of 245 patients were included. Thirty-two (13.1%) delivered an SGA neonate, and 43 (17.6%) had the composite outcome. The head circumference, biparietal diameter, abdominal circumference, and estimated fetal weight lags were identified as significant predictors of SGA neonates after adjusted analyses (P \u3c .05). The addition of either the estimated fetal weight or abdominal circumference lag to maternal characteristics alone significantly improved the performance of the predictive model, achieving areas under the curve of 0.72 and 0.74, respectively. No significant association was found between the biometric lag variables and the development of preeclampsia. CONCLUSIONS: Routinely available biometric data can be used to improve the prediction of adverse outcomes such as SGA. These biometric lags should be considered in efforts to develop screening algorithms for adverse outcomes