The ESRI Survey of the Attitudes of Post-Primary Teachers and Pupils. II Teachers's view of examinations. ESRI Memorandum Series No. 88 1970

Although it would, in some ways, be desirable to delay publication of all the results from the ESRI survey of the attitudes of teachers and pupils until a comprehensive and integrated picture could be presented, this would delay the availability of useful material. We have therefore decided to release reports on sections of the material as the analysis is completed. The final volume in the series will bring the material together and highlight the main issues, offering such interpretations of the results as seem to be justified. Simultaneously with the publication of this volume a general back­ ground volume bas been published. It is expected that the next volume in the series will be "Teachers' Perception of Educational Objectives"

The ESRI Survey of the Attitudes of Post-Primary Teachers and Pupils Volume III: Teachers' Perception of Educational Objectives. ESRI Memorandum Series No. 89 1970

Although it would, in some ways, be desirable to delay publication of all the results from the ESRI survey of the attitudes of teachers and pupils until a comprehensive and integrated picture could be presented, this would delay the availability of useful material. We have therefore decided to re1ease reports on sections of the material as the analysis is completed. The final volume in the series will bring the material together and highlight the main issues, offering such interpretations of the results as seem to be justified. Simultaneously with the publication of this volume a general background volume and one entitled "Teachers Views on Examinations" has been published

The ESRI Survey of the Attitudes of Post-Primary Teachers and Pupils Volume II: Teachers' Views on Examinations. Special Appendix Tables. ESRI Memorandum Series No. 91 1970

No Abstract

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair manganese transport in vitro and lead to manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal manganese transporter in vertebrates.Action Medical ResearchThis is the final version of the article. It first appeared from Nature Publishing Group via http://dx.doi.org/10.1038/ncomms1160

Physiological Correlates of Volunteering

We review research on physiological correlates of volunteering, a neglected but promising research field. Some of these correlates seem to be causal factors influencing volunteering. Volunteers tend to have better physical health, both self-reported and expert-assessed, better mental health, and perform better on cognitive tasks. Research thus far has rarely examined neurological, neurochemical, hormonal, and genetic correlates of volunteering to any significant extent, especially controlling for other factors as potential confounds. Evolutionary theory and behavioral genetic research suggest the importance of such physiological factors in humans. Basically, many aspects of social relationships and social activities have effects on health (e.g., Newman and Roberts 2013; Uchino 2004), as the widely used biopsychosocial (BPS) model suggests (Institute of Medicine 2001). Studies of formal volunteering (FV), charitable giving, and altruistic behavior suggest that physiological characteristics are related to volunteering, including specific genes (such as oxytocin receptor [OXTR] genes, Arginine vasopressin receptor [AVPR] genes, dopamine D4 receptor [DRD4] genes, and 5-HTTLPR). We recommend that future research on physiological factors be extended to non-Western populations, focusing specifically on volunteering, and differentiating between different forms and types of volunteering and civic participation

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean new insights into telomere biology on a previously unimaginable scale. To this end, a number of approaches for estimating telomere length from whole-genome sequencing data have been proposed. Here we present Telomerecat, a novel approach to the estimation of telomere length. Previous methods have been dependent on the number of telomeres present in a cell being known, which may be problematic when analysing aneuploid cancer data and non-human samples. Telomerecat is designed to be agnostic to the number of telomeres present, making it suited for the purpose of estimating telomere length in cancer studies. Telomerecat also accounts for interstitial telomeric reads and presents a novel approach to dealing with sequencing errors. We show that Telomerecat performs well at telomere length estimation when compared to leading experimental and computational methods. Furthermore, we show that it detects expected patterns in longitudinal data, repeated measurements, and cross-species comparisons. We also apply the method to a cancer cell data, uncovering an interesting relationship with the underlying telomerase genotype

Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper

Simulations and modelling of bacterial flagellar propulsion

Motility of flagellated bacteria has been a topic of increasing scientific interest over the past decades, attracting the attention of mathematicians, physicists, biologists and engineers alike. Bacteria and other micro-organisms cause substantial damage through biofilm growth on submerged interfaces in water cooling systems, ship hulls and medical implants. This gives social and economic motivations for learning about how micro-organisms swim and behave in different environments. Fluid flows on such small scales are dominated by viscosity and therefore behave differently from the inertia-dominated flows that we are more familiar with, making bacterial motility a physically intriguing phenomenon to study as well. We use the boundary element method (BEM) to simulate the motion of singly flagellated bacteria in a viscous, Newtonian fluid. One of our main objectives is to investigate the influence of external surfaces on swimming behaviour. We show that the precise shape of the cell body and flagellum can be important for determining boundary behaviour, in particular, whether bacteria are attracted or repelled from surfaces. Furthermore, we investigate the types of motion that may arise between two parallel plates and in rectangular channels of fluid and show how these relate to the plane boundary interactions. As an extension to original models of flagellar propulsion in bacteria that assume a rotation of the rigid helical flagellum about an axis fixed relative to the cell body, we consider flexibility of the bacterial hook connecting the aforementioned parts of the swimmer. This is motivated by evidence that the hook is much more flexible than the rest of the flagellum, which we therefore treat as a rigid structure. Elastic dynamics of the hook are modelled using the equations for a Kirchhoff rod. In some regimes, the dynamics are well described by a rigid hook model but we find the possibility of additional modes of behaviour.This thesis is not currently available in ORA