Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM#204690), or gingival hyperplasia in Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome (AIGFS, MIM#614253). Patients affected by ERS/AIGFS present a distinctive orodental phenotype consisting of generalized hypoplastic AI affecting both the primary and permanent dentition, delayed tooth eruption, pulp stones, hyperplastic dental follicles, and gingival hyperplasia with variable severity and calcified nodules. Renal exam reveals a nephrocalcinosis which is asymptomatic in children affected by ERS. FAM20A recessive mutations are responsible for both syndromes. We suggest that AIGFS and ERS are in fact descriptions of the same syndrome, but that the kidney phenotype has not always been investigated fully in AIGFS. The aim of this review is to highlight the distinctive and specific orodental features of patients with recessive mutations in FAM20A. We propose ERS to be the preferred term for all the phenotypes arising from recessive FAM20A mutations. A differential diagnosis has to be made with other forms of AI, isolated or syndromic, where only a subset of the clinical signs may be shared. When ERS is suspected, the patient should be assessed by a dentist, nephrologist and clinical geneticist. Confirmed cases require long-term follow-up. Management of the orodental aspects can be extremely challenging and requires the input of multi-disciplinary specialized dental team, especially when there are multiple unerupted teeth

Pan-Africanism: a contorted delirium or a pseudonationalist paradigm? Revivalist critique

This essaic-article goes against established conventions that there is anything ethno-cultural (and hence national) about the so-called African tribes. Drawing largely from the culture history of precolonial/prepolitical Africans—that is, the Bantu/Cushitic-Ethiopians (Azanians)—the author has demonstrated vividly that far from being distinct ethno-culture national communities, the so-called tribes of African states are better considered subculture groups, whose regional culture practices erstwhile paid tribute to their nation’s main culture center in Karnak. For example, using the culture symbols and practices of some local groups and linking them to the predynastic and dynastic Pharaonic periods, I argued that there is compelling evidence against qualifying Africa’s tribes as distinct ethno-culture national entities. In genuine culture context, I stressed that the Ritual of Resurrection and its twin culture process of the mummification of deceased indigenous Pharaohs tend to suggest that the object of the Bantu/Cushitic-Ethiopians national culture was life (in its eternal manifestation) and then resurrection later, and that there are recurring (culturally sanctioned) ethical examples among the culture custodians of these subculture groups that generally pay tribute to the overarching culture norm. Furthermore, the fact that the Ritual of Resurrection began in the Delta region and ended at the Sources of the Nile, where the spirit of the deceased indigenous Pharaohs was introduced into the spiritual world of their ancestors, contradicts conventional perceptions that ancient Egypt was a distinct national community isolated from precolonial/prepolitical Africa/Azania

Detecting Bioterror Attacks by Screening Blood Donors: A Best-Case Analysis

To assess whether screening blood donors could provide early warning of a bioterror attack, we combined stochastic models of blood donation and the workings of blood tests with an epidemic model to derive the probability distribution of the time to detect an attack under assumptions favorable to blood donor screening. Comparing the attack detection delay to the incubation times of the most feared bioterror agents shows that even under such optimistic conditions, victims of a bioterror attack would likely exhibit symptoms before the attack was detected through blood donor screening. For example, an attack infecting 100 persons with a noncontagious agent such as Bacillus anthracis would only have a 26% chance of being detected within 25 days; yet, at an assumed additional charge of $10 per test, donor screening would cost$139 million per year. Furthermore, even if screening tests were 99.99% specific, 1,390 false-positive results would occur each year. Therefore, screening blood donors for bioterror agents should not be used to detect a bioterror attack

The effect of perception of teacher characteristics on Spanish EFL Learners’ anxiety and enjoyment

The present study explores the relationship between Foreign Language Enjoyment (FLE) and Foreign Language Classroom Anxiety (FLCA) and a number of teacher-centered variables within the Spanish classroom context. Participants were 210 former and current EFL learners from all over Spain who filled out an online questionnaire with Likert scale items. A moderate negative relationship emerged between FLE and FLCA. Participants who had a L1 user of English as teacher reported more FLE and less FLCA than those with a foreign language user of English. Teacher characteristics predicted close to 20% of variance in FLE but only 8% of variance in FLCA. The strongest positive predictor of FLE was teacher’s friendliness while teacher’s foreign accent was a weaker negative predictor. Teacher-centered variables predicted much less variance for FLCA. Participants experienced more FLCA with younger teachers, very strict teachers and teachers who did not use the FL much in class. The findings confirm earlier research that FLE seems to be more dependent on the teachers’ pedagogical skills than FLCA (Dewaele & MacIntyre, 2019a; Dewaele et al., 2018)

Detecting Bioterror Attacks by Screening Blood Donors: A Best-Case Analysis

To assess whether screening blood donors could provide early warning of a bioterror attack, we combined stochastic models of blood donation and the workings of blood tests with an epidemic model to derive the probability distribution of the time to detect an attack under assumptions favorable to blood donor screening. Comparing the attack detection delay to the incubation times of the most feared bioterror agents shows that even under such optimistic conditions, victims of a bioterror attack would likely exhibit symptoms before the attack was detected through blood donor screening. For example, an attack infecting 100 persons with a noncontagious agent such as Bacillus anthracis would only have a 26% chance of being detected within 25 days; yet, at an assumed additional charge of $10 per test, donor screening would cost$139 million per year. Furthermore, even if screening tests were 99.99% specific, 1,390 false-positive results would occur each year. Therefore, screening blood donors for bioterror agents should not be used to detect a bioterror attack

Identifying the science and technology dimensions of emerging public policy issues through horizon scanning

Public policy requires public support, which in turn implies a need to enable the public not just to understand policy but also to be engaged in its development. Where complex science and technology issues are involved in policy making, this takes time, so it is important to identify emerging issues of this type and prepare engagement plans. In our horizon scanning exercise, we used a modified Delphi technique [1]. A wide group of people with interests in the science and policy interface (drawn from policy makers, policy adviser, practitioners, the private sector and academics) elicited a long list of emergent policy issues in which science and technology would feature strongly and which would also necessitate public engagement as policies are developed. This was then refined to a short list of top priorities for policy makers. Thirty issues were identified within broad areas of business and technology; energy and environment; government, politics and education; health, healthcare, population and aging; information, communication, infrastructure and transport; and public safety and national security.Public policy requires public support, which in turn implies a need to enable the public not just to understand policy but also to be engaged in its development. Where complex science and technology issues are involved in policy making, this takes time, so it is important to identify emerging issues of this type and prepare engagement plans. In our horizon scanning exercise, we used a modified Delphi technique [1]. A wide group of people with interests in the science and policy interface (drawn from policy makers, policy adviser, practitioners, the private sector and academics) elicited a long list of emergent policy issues in which science and technology would feature strongly and which would also necessitate public engagement as policies are developed. This was then refined to a short list of top priorities for policy makers. Thirty issues were identified within broad areas of business and technology; energy and environment; government, politics and education; health, healthcare, population and aging; information, communication, infrastructure and transport; and public safety and national security

Re-emergence of tularemia in Germany: Presence of <it>Francisella tularensis </it>in different rodent species in endemic areas

<p>Abstract</p> <p>Background</p> <p>Tularemia re-emerged in Germany starting in 2004 (with 39 human cases from 2004 to 2007) after over 40 years of only sporadic human infections. The reasons for this rise in case numbers are unknown as is the possible reservoir of the etiologic agent <it>Francisella (F.) tularensis</it>. No systematic study on the reservoir situation of <it>F. tularensis </it>has been published for Germany so far.</p> <p>Methods</p> <p>We investigated three areas six to ten months after the initial tularemia outbreaks for the presence of <it>F. tularensis </it>among small mammals, ticks/fleas and water. The investigations consisted of animal live-trapping, serologic testing, screening by real-time-PCR and cultivation.</p> <p>Results</p> <p>A total of 386 small mammals were trapped. <it>F. tularensis </it>was detected in five different rodent species with carrier rates of 2.04, 6.94 and 10.87% per trapping area. None of the ticks or fleas (n = 432) tested positive for <it>F. tularensis</it>. We were able to demonstrate <it>F. tularensis-</it>specific DNA in one of 28 water samples taken in one of the outbreak areas.</p> <p>Conclusion</p> <p>The findings of our study stress the need for long-term surveillance of natural foci in order to get a better understanding of the reasons for the temporal and spatial patterns of tularemia in Germany.</p

Learning in the chaos: A political economy analysis of education in Afghanistan

© 2018, The Author(s) 2018. Afghanistan is often characterised as a ‘failed’ or ‘fragile’ state in terms of state ‘functionality’, lacking in capacity to provide security and wellbeing to its citizens and failing to prevent violent conflict and terrorism. Since 2001, education has become a major victim of Afghanistan’s protracted crisis that involves international military interventions, fragile democracy and growing radicalisation. Drawing upon qualitative interviews with educational officials and practitioners in Afghanistan and critically examining the literature in education and conflict, we argue that Afghanistan’s education is caught in the nexus between deteriorating security conditions, weak governance and widespread corruption, resulting in rebel capture of educational spaces for radicalisation and violent extremism. More broadly, we contend that education faces the risk of capture for radicalisation in contexts where state fragility and fundamentalism intersect. Finally, we highlight some critical issues relating to educational programming in conflict-affected contexts