A review of literature on the syndrome of arthrogryposis and palatoschisis (S.A.P.) in Charolais cattle 1976–1979

Twenty or so papers concerning S.A.P. have been published since 1976 and can be added to the 49 already included in a descriptive bibliography published in 1976. Important information on the syndrome has been added: the age of the embryo at first appearance has been determined (about 3.5 months). An identifiable anomaly affects the nervous system at the level of the motor end plaque, followed by a disorganisation of muscle tissue. The anomaly presents similarities with a hereditary condition in the mouse known as muscular dysgenesis (mdg). The frequency of the syndrome in purebred Charolais in France as well as in Canada has been reported at 0.5 p. 100 among newborn calves. The gene frequency is q = 0.20 and penetrance in homozygotes is 0.15 and 0.08 in males and females respectively. It has been demonstrated that penetrance may appear to be complete as a result of differences in the probabilities of affected calves being reported depending on the numbers occuring in individual herds or sire groups. It is also pointed out that breeding experiments using animals already identified as carriers could result in elevated estimates of penetrance. Two methods of detecting carrier bulls have been applied: using a test herd of carrier females as in Canada or in the normal course of progeny performance testing pure bred beef cattle as in France. In each case only a small number of bulls can be tested compared with the number required to meet the needs of the breed. Total eradication of calf losses by S.A.P. is not only theoretically impossible but could even be undesirable, at least from an economic point of view since heterozygous females may be sufficiently more prolific to more than compensate for the low losses resulting from the presence of the gene in the population. Nevertheless, national associations of Charolais breeders have other concerns than those associated with the genetics of calf losses, namely commercial considerations.Depuis 1976 une vingtaine d’articles se sont ajoutés aux 49 déjà cotés dans une bibliographie signalétique publiée en 1976. Des progrès importants dans la description du syndrome sont notés : l’âge d’apparition chez l’embryon est déterminé (autour de 3 mois et demi); l’anomalie de départ frappe le système nerveux au niveau de la plaque motrice. Il s’ensuit une désorganisation du muscle. L’anomalie est fort semblable à une affection héréditaire de la Souris, la muscular dysgenesis (mdg). La fréquence de l’anomalie en race Charolaise pure, aussi bien en France qu’au Canada, s’établit à 0,5 p. 100 des veaux naissant. La fréquence du gène serait q = 0,20 et les pénétrances chez les homozygotes respectivement 0,15 chez les mâles et 0,09 chez les femelles. On a expliqué que, dans certains cas, la pénétrance peut paraître totale à cause de différences dans les probabilités d’enregistrement des fratries selon le nombre d’anormaux apparus, et que, dans le cas de croisements à partir d’animaux porteurs détectés d’après leur descendance, une certaine sélection a pu jouer pour augmenter cette pénétrance. Deux méthodes de détection des mâles porteurs du gène ont été expérimentées : au Canada, à l’aide d’un troupeau expérimental de femelles porteuses, en France, dans le cadre du testage viande en race pure. Dans les deux cas, un nombre infime de taureaux a pu être testé par rapport aux besoins de la race. L’éradication de la tare, matériellement impossible, semble également théoriquement inutile, du moins économiquement parlant car les femelles hétérozygotes pourraient être plus prolifiques, ce qui compenserait, et au-delà, les faibles pertes dues à la présence du gène dans la population. Cependant, les associations peuvent tenir compte d’autres considérations que des considérations purement économiques et génétiques pour orienter leur action, en particulier des considérations commerciales. Pour conclure, il est souhaitable que l’on continue de repérer les veaux S.A.P. d’une manière routinière pour éviter de confondre avec d’autres possibles anomalies. Les études sur les manifestations à tous les niveaux et sur l’étiologie pure de l’anomalie sont également préconisées. On aimerait également avoir des précisions supplémentaires sur l’avantage de prolificité des femelles hétérozygotes

The utility of Pinus sylvestris L. in dendrochemical investigations: Pollution impact of lead mining and smelting in Darley Dale, Derbyshire, UK

This research investigates atmospheric pollution from an isolated and increasingly productive lead-smelting site by examining the dendrochemistry of Pinus sylvestris growing in the local environment and at control sites. Tree increment cores and soil in the rooting environment were analysed for lead content. Inter-site comparisons of lead-in-soil suggest that contamination of the soil may be a less important pathway for lead inclusion within wood than pathways via bark or needles. Levels of lead-in-wood (up to 38 mg kg−1) are at the upper end of those previously reported. There is evidence of radial translocation of lead towards the heartwood and variability in intra-site dendrochemical records. Mean site lead-in-wood records can however be related to a well-documented pollution chronology and also suggest the importance of local topography in the dispersal and deposition of particulate lead. This study demonstrates that P. sylvestris can be used to estimate the scale and timing of past pollution episodes in similar environmental contexts to those investigated at Darley Dale, where precisely dated pollution chronologies are lacking

Advances in understanding gray matter pathology in multiple sclerosis: Are we ready to redefine disease pathogenesis?

The purpose of this special issue in BMC Neurology is to summarize advances in our understanding of the pathological, immunological, imaging and clinical concepts of gray matter (GM) pathology in patients with multiple sclerosis (MS). Review articles by Lucchinetti and Popescu, Walker and colleagues, Hulst and colleagues and Horakova and colleagues summarize important recent advances in understanding GM damage and its implications to MS pathogenesis. They also raise a number of important new questions and outline comprehensive approaches to addressing those questions in years to come. In the last decade, the use of immunohistochemistry staining methods and more advanced imaging techniques to detect GM lesions, like double inversion recovery, contributed to a surge of studies related to cortical and subcortical GM pathology in MS. It is becoming more apparent from recent biopsy studies that subpial cortical lesions in early MS are highly inflammatory. The mechanisms responsible for triggering meningeal inflammation in MS patients are not yet elucidated, and they should be further investigated in relation to their role in initiating and perpetuating the disease process. Determining the role of antigens, environmental and genetic factors in the pathogenesis of GM involvement in MS is critical. The early involvement of cortical and subcortical GM damage in MS is very intriguing and needs to be further studied. As established in numerous cross-sectional and longitudinal studies, GM damage is a better predictor of physical disability and cognitive impairment than WM damage. Monitoring the evolution of GM damage is becoming an important marker in predicting future disease course and response to therapy in MS patients

Small-Scale Communities Are Sufficient for Cost- and Data-Efficient Peer-to-Peer Energy Sharing

Due to ever lower cost, investments in renewable electricity generation and storage have become more attractive to electricity consumers in recent years. At the same time, electricity generation and storage have become something to share or trade locally in energy communities or microgrid systems. In this context, peer-to-peer (P2P) sharing has gained attention, since it offers a way to optimize the cost-benefits from distributed resources, making them financially more attractive. However, it is not yet clear in which situations consumers do have interests to team up and how much cost is saved through cooperation in practical instances. While introducing realistic continuous decisions, through detailed analysis based on large-scale measured household data, we show that the financial benefit of cooperation does not require an accurate forecasting. Furthermore, we provide strong evidence, based on analysis of the same data, that even P2P networks with only 2--5 participants can reach a high fraction (96% in our study) of the potential gain, i.e., of the ideal offline (i.e., non-continuous) achievable gain. Maintaining such small communities results in much lower associated costs and better privacy, as each participant only needs to share its data with 1--4 other peers. These findings shed new light and motivate requirements for distributed, continuous and dynamic P2P matching algorithms for energy trading and sharing

Memory properties and charge effect study in Si nanocrystals by scanning capacitance microscopy and spectroscopy

In this letter, isolated Si nanocrystal has been formed by dewetting process with a thin silicon dioxide layer on top. Scanning capacitance microscopy and spectroscopy were used to study the memory properties and charge effect in the Si nanocrystal in ambient temperature. The retention time of trapped charges injected by different direct current (DC) bias were evaluated and compared. By ramp process, strong hysteresis window was observed. The DC spectra curve shift direction and distance was observed differently for quantitative measurements. Holes or electrons can be separately injected into these Si-ncs and the capacitance changes caused by these trapped charges can be easily detected by scanning capacitance microscopy/spectroscopy at the nanometer scale. This study is very useful for nanocrystal charge trap memory application

Transit Photometry as an Exoplanet Discovery Method

Photometry with the transit method has arguably been the most successful exoplanet discovery method to date. A short overview about the rise of that method to its present status is given. The method's strength is the rich set of parameters that can be obtained from transiting planets, in particular in combination with radial velocity observations; the basic principles of these parameters are given. The method has however also drawbacks, which are the low probability that transits appear in randomly oriented planet systems, and the presence of astrophysical phenomena that may mimic transits and give rise to false detection positives. In the second part we outline the main factors that determine the design of transit surveys, such as the size of the survey sample, the temporal coverage, the detection precision, the sample brightness and the methods to extract transit events from observed light curves. Lastly, an overview over past, current and future transit surveys is given. For these surveys we indicate their basic instrument configuration and their planet catch, including the ranges of planet sizes and stellar magnitudes that were encountered. Current and future transit detection experiments concentrate primarily on bright or special targets, and we expect that the transit method remains a principal driver of exoplanet science, through new discoveries to be made and through the development of new generations of instruments.Comment: Review chapte

Standard setting: Comparison of two methods

BACKGROUND: The outcome of assessments is determined by the standard-setting method used. There is a wide range of standard – setting methods and the two used most extensively in undergraduate medical education in the UK are the norm-reference and the criterion-reference methods. The aims of the study were to compare these two standard-setting methods for a multiple-choice question examination and to estimate the test-retest and inter-rater reliability of the modified Angoff method. METHODS: The norm – reference method of standard -setting (mean minus 1 SD) was applied to the 'raw' scores of 78 4th-year medical students on a multiple-choice examination (MCQ). Two panels of raters also set the standard using the modified Angoff method for the same multiple-choice question paper on two occasions (6 months apart). We compared the pass/fail rates derived from the norm reference and the Angoff methods and also assessed the test-retest and inter-rater reliability of the modified Angoff method. RESULTS: The pass rate with the norm-reference method was 85% (66/78) and that by the Angoff method was 100% (78 out of 78). The percentage agreement between Angoff method and norm-reference was 78% (95% CI 69% – 87%). The modified Angoff method had an inter-rater reliability of 0.81 – 0.82 and a test-retest reliability of 0.59–0.74. CONCLUSION: There were significant differences in the outcomes of these two standard-setting methods, as shown by the difference in the proportion of candidates that passed and failed the assessment. The modified Angoff method was found to have good inter-rater reliability and moderate test-retest reliability