Short Communication Genetic parameters for cow weight at calving and at calf weaning in South African Simmental cattle

Abstract A study was conducted to compare mature cow weight in the South African Simmental population when defined as the weight of the cow at calving or the weight of the cow at weaning of the calf. Data included in the analysis were 14458 records for cow weight at calving (CWT-C) representing 6534 cows and 18871 records for cow weight at weaning (CWT-W) representing 8395 cows. All cows were born between 1968 and 1996, while all calves were born between 1977 and 1998. The following effects had a significant influence on the traits and were included in the genetic analysis: Cow age in years fitted as a covariate term (linear and quadratic) and contemporary group fitted as a fixed effect. Contemporary group was defined as the unique combination of herd, birth year of calf, month of weighing, breeder-defined management group code for the calf and supplementary feeding code for the cow (for CWT-W). All analyses were done using ASREML, first fitting uni-trait and then bi-variate animal models that made provision for up to four weights per cow. The estimated genetic correlation obtained between the two cow weight traits was 0.95 ± 0.03, with a residual correlation of 0.61 ± 0.02. The heritability estimates for CWT-C and CWT-W from this analysis were 0.29 ± 0.04 and 0.37 ± 0.04, respectively. From a breeding perspective, these results confirm that little benefit is to be gained from weighing cows at calving if cows are to be weighed at weaning. If cow weights are to be recorded for an indication of cow maintenance costs, then weight at weaning is the more reliable and practical measure to record

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

sem informaçãoThe epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report a genome-wide mega-analysis involving 15,212 individuals with epilepsy and 29,677 controls, which reveals 16 genome-wide significant91sem informaçãosem informaçãosem informaçã

Egg shape in the Common Guillemot Uria aalge and Brunnich’s Guillemot U. lomvia: not a rolling matter?

The adaptive significance of avian egg shape is poorly understood, and has been studied only in those species producing pyriform (pear-shaped, or pointed) eggs: waders and guillemots (murres) Uria spp., albeit to a limited extent. In the latter, it is widely believed that the pyriform shape has evolved to minimise their likelihood of rolling off a cliff ledge: the idea being that the more pointed the egg, the narrower the arc in which it rolls, and the less likely it is it will fall from a cliff ledge. Previous research also claimed that the rolling trajectory—the diameter of the arc they describe—of Common Guillemot U. aalge eggs is influenced not only by its shape but also by its mass, with heavier (i.e. larger) eggs describing a wider arc than lighter eggs. The finding that both shape and mass determined the rolling trajectory of Common Guillemot eggs (the shape–mass hypothesis) was used to explain the apparent anomaly that Bru¨nnich’s Guillemot U. lomvia produce eggs that are less pointed, yet breed on narrower ledges than Common Guillemots. They are able to do this, it was suggested, because Bru¨nnich’s Guillemot eggs are smaller and lighter in mass than those of Common Guillemots. However, since some populations of Bru¨nnich’s Guillemots produce eggs that are as large or larger than those of some Common Guillemot populations, the shape–mass hypothesis predicts that that (1) larger (i.e. heavier) eggs of both guillemot species will be more pyriform (pointed) in shape, and (2) that eggs of the two species of same mass should be similarly pointed. We tested these predictions and found: (1) only a weak, positive association between egg volume and pointedness in both guillemot species (\3% of the variation in egg shape explained by egg volume), and (2) no evidence that eggs of the two species of similar mass were more similar in shape: regardless of their mass, Brunnich’s Guillemot eggs were less pointed than Common Guillemot eggs. Overall, our results call into question the long-held belief that protection from rolling is the main selective factor driving guillemot egg shape

"It's what midwifery is all about": Western Australian midwives' experiences of being 'with woman' during labour and birth in the known midwife model

Background: The phenomenon of being 'with woman' is fundamental to midwifery as it underpins its philosophy, relationships and practices. There is an identified gap in knowledge around the 'with woman' phenomenon from the perspective of midwives providing care in a variety of contexts. As such, the aim of this study was to explore the experiences of being 'with woman' during labour and birth from the perspective of midwives' working in a model where care is provided by a known midwife. Methods: A descriptive phenomenological design was employed with ten midwives working in a 'known midwife' model who described their experiences of being 'with woman' during labour and birth. The method was informed by Husserlian philosophy which seeks to explore the same phenomenon through rich descriptions by individuals revealing commonalities of the experience. Results: Five themes emerged 1) Building relationships; 2) Woman centred care; 3) Impact on the midwife; 4) Impact on the woman; and 5) Challenges in the Known Midwife model. Midwives emphasised the importance of trusting relationships while being 'with woman', confirming that this relationship extends beyond the woman - midwife relationship to include the woman's support people and family. Being 'with woman' during labour and birth in the context of the relationship facilitates woman-centred care. Being 'with woman' influences midwives, and, it is noted, the women that midwives are working with. Finally, challenges that impact being 'with woman' in the known midwife model are shared by midwives. Conclusions: Findings offer valuable insight into midwives' experiences of being 'with woman' in the context of models that provide care by a known midwife. In this model, the trusting relationship is the conduit for being 'with woman' which influences the midwife, the profession of midwifery, as well as women and their families. Descriptions of challenges to being 'with woman' provide opportunities for professional development and service review. Rich descriptions from the unique voice of midwives, provided insight into the applied practices of being 'with woman' in a known midwife model which adds important knowledge concerning a phenomenon so deeply embedded in the philosophy and practices of the profession of midwifery

Genetic Discrimination Between LADA and Childhood-Onset Type 1 Diabetes Within the MHC

OBJECTIVE The MHC region harbors the strongest loci for latent autoimmune diabetes in adults (LADA); however, the strength of association is likely attenuated compared with that for childhood-onset type 1 diabetes. In this study, we recapitulate independent effects in the MHC class I region in a population with type 1 diabetes and then determine whether such conditioning in LADA yields potential genetic discriminators between the two subtypes within this region. RESEARCH DESIGN AND METHODS Chromosome 6 was imputed using SNP2HLA, with conditional analysis performed in type 1 diabetes case subjects (n = 1,985) and control subjects (n = 2,219). The same approach was applied to a LADA cohort (n = 1,428) using population-based control subjects (n = 2,850) and in a separate replication cohort (656 type 1 diabetes case, 823 LADA case, and 3,218 control subjects). RESULTS The strongest associations in the MHC class II region (rs3957146, beta [SE] = 1.44 [0.05]), as well as the independent effect of MHC class I genes, on type 1 diabetes risk, particularly HLA-B*39 (beta [SE] = 1.36 [0.17]), were confirmed. The conditional analysis in LADA versus control subjects showed significant association in the MHC class II region (rs3957146, beta [SE] = 1.14 [0.06]); however, we did not observe significant independent effects of MHC class I alleles in LADA. CONCLUSIONS In LADA, the independent effects of MHC class I observed in type 1 diabetes were not observed after conditioning on the leading MHC class II associations, suggesting that the MHC class I association may be a genetic discriminator between LADA and childhood-onset type 1 diabetes.Peer reviewe

Assessment of ecosystem services of an urbanized tropical estuary with a focus on habitats and scenarios

Tropical estuaries are one of the most valuable ecosystems on the planet because of the number of ecosystem services they provide. The increasing anthropogenic pressure to which these estuaries are subject has caused a reduction in their natural capital stock. Therefore, the application of a pragmatic and rational ecosystem-based management approach to sustainably manage the multiple ecosystem services provided by this ecosystem is necessary. The aim of our study is to present an approach that combines prospective scenarios with habitat-based perspective to assess the supply capacity of ecosystem services, plus determine the impact of protected areas in an urbanized tropical estuary. The current situation and two scenarios were generated to evaluate the capacity of habitats to supply ecosystem services. This type of assessment will allow the decision makers to visualize the effect of their choices or the occurrence of events which might produce significant changes in the estuary. Thus, over time, measures can be taken to sustain the supply of ecosystem services. We determined that the establishment of protected areas have a positive impact; however, the effect is not the same for all of them. Consequently, indicating that actions such as community participation, research, education, management planning and infrastructure development must accompany the development of a protected area

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis

On plexus representation of dissimilarities

Correspondence analysis has found widespread application in analysing vegetation gradients. However, it is not clear how it is robust to situations where structures other than a simple gradient exist. The introduction of instrumental variables in canonical correspondence analysis does not avoid these difficulties. In this paper I propose to examine some simple methods based on the notion of the plexus (sensu McIntosh) where graphs or networks are used to display some of the structure of the data so that an informed choice of models is possible. I showthat two different classes of plexus model are available. These classes are distinguished by the use in one case of a global Euclidean model to obtain well-separated pair decomposition (WSPD) of a set of points which implicitly involves all dissimilarities, while in the other a Riemannian view is taken and emphasis is placed locally, i.e., on small dissimilarities. I showan example of each of these classes applied to vegetation data