Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

The hereditary dentine disorders, dentinogenesis imperfecta (DGI) and dentine dysplasia (DD), comprise a group of autosomal dominant genetic conditions characterised by abnormal dentine structure affecting either the primary or both the primary and secondary dentitions. DGI is reported to have an incidence of 1 in 6,000 to 1 in 8,000, whereas that of DD type 1 is 1 in 100,000. Clinically, the teeth are discoloured and show structural defects such as bulbous crowns and small pulp chambers radiographically. The underlying defect of mineralisation often results in shearing of the overlying enamel leaving exposed weakened dentine which is prone to wear

High Adenylyl Cyclase Activity and \u3cem\u3eIn Vivo\u3c/em\u3e cAMP Fluctuations in Corals Suggest Central Physiological Role

Corals are an ecologically and evolutionarily significant group, providing the framework for coral reef biodiversity while representing one of the most basal of metazoan phyla. However, little is known about fundamental signaling pathways in corals. Here we investigate the dynamics of cAMP, a conserved signaling molecule that can regulate virtually every physiological process. Bioinformatics revealed corals have both transmembrane and soluble adenylyl cyclases (AC). Endogenous cAMP levels in live corals followed a potential diel cycle, as they were higher during the day compared to the middle of the night. Coral homogenates exhibited some of the highest cAMP production rates ever to be recorded in any organism; this activity was inhibited by calcium ions and stimulated by bicarbonate. In contrast, zooxanthellae or mucus had \u3e1000-fold lower AC activity. These results suggest that cAMP is an important regulator of coral physiology, especially in response to light, acid/base disturbances and inorganic carbon levels

Information sharing and credit : firm-level evidence from transition countries

We investigate whether information sharing among banks has affected credit market performance in the transition countries of Eastern Europe and the former Soviet Union, using a large sample of firm-level data. Our estimates show that information sharing is associated with improved availability and lower cost of credit to firms. This correlation is stronger for opaque firms than transparent ones and stronger in countries with weak legal environments than in those with strong legal environments. In cross-sectional estimates, we control for variation in country-level aggregate variables that may affect credit, by examining the differential impact of information sharing across firm types. In panel estimates, we also control for the presence of unobserved heterogeneity at the firm level, as well as for changes in macroeconomic variables and the legal environment

Parasitic Cape honeybee workers, Apis mellifera capensis, evade policing

Relocation of the Cape honeybee, Apis mellifera capensis, by bee-keepers from southern to northern South Africa in 1990 has caused widespread death of managed African honeybee, A. m. scutellata, colonies. Apis mellifera capensis worker bees are able to lay diploid, female eggs without mating by means of automictic thelytoky (meiosis followed by fusion of two meiotic products to restore egg diploidy), whereas workers of other honeybee subspecies are able to lay only haploid, male eggs. The A. m. capensis workers, which are parasitizing and killing A. m. scutellata colonies in northern South Africa, are the asexual offspring of a single, original worker in which the small amount of genetic variation observed is due to crossing over during meiosis (P. Kryger, personal communication). Here we elucidate two principal mechanisms underlying this parasitism. Parasitic A. m. capensis workers activate their ovaries in host colonies that have a queen present (queenright colonies), and they lay eggs that evade being killed by other workers (worker policing)—the normal fate of worker-laid eggs in colonies with a queen. This unique parasitism by workers is an instance in which a society is unable to control the selfish actions of its members

The class of the locus of intermediate Jacobians of cubic threefolds

We study the locus of intermediate Jacobians of cubic threefolds within the moduli space of complex principally polarized abelian fivefolds, and its generalization to arbitrary genus - the locus of abelian varieties with a singular odd two-torsion point on the theta divisor. Assuming that this locus has expected codimension (which we show to be true for genus up to 5), we compute the class of this locus, and of is closure in the perfect cone toroidal compactification, in the Chow, homology, and the tautological ring. We work out the cases of genus up to 5 in detail, obtaining explicit expressions for the classes of the closures of the locus of products of an elliptic curve and a hyperelliptic genus 3 curve, in moduli of principally polarized abelian fourfolds, and of the locus of intermediate Jacobians in genus 5. In the course of our computation we also deal with various intersections of boundary divisors of a level toroidal compactification, which is of independent interest in understanding the cohomology and Chow rings of the moduli spaces.Comment: v2: new section 9 on the geometry of the boundary of the locus of intermediate Jacobians of cubic threefolds. Final version to appear in Invent. Mat

Stigma narratives: LGBT transitions and identities in Malta

This article is available open access through the publisher’s website at the link below. Copyright @ 2011 A B Academic Publishers.This article considers narratives of transition experiences of a group of Lesbian, Gay, Bisexual and Transgender (LGBT) young people in Malta. The article draws on Goffman's concept of stigma and uses this to explore transitions in a society that retains some traditional characteristics, particularly the code of honour and shame, although mediated by aspects of modernity. Interviews were undertaken with 15 young people with the goal of producing narratives. The article analyses the experience of stigma, its effects and how young people manage its consequences. It concludes by drawing attention to the pervasive nature of stigma and the importance of structure, agency and reflexivity in youth transitions. In particular stigma remains an important feature of societies in which hetero-normative sexuality remains dominant

Self-supervised Outdoor Scene Relighting

Outdoor scene relighting is a challenging problem that requires good understanding of the scene geometry, illumination and albedo. Current techniques are completely supervised, requiring high quality synthetic renderings to train a solution. Such renderings are synthesized using priors learned from limited data. In contrast, we propose a self-supervised approach for relighting. Our approach is trained only on corpora of images collected from the internet without any user-supervision. This virtually endless source of training data allows training a general relighting solution. Our approach first decomposes an image into its albedo, geometry and illumination. A novel relighting is then produced by modifying the illumination parameters. Our solution capture shadow using a dedicated shadow prediction map, and does not rely on accurate geometry estimation. We evaluate our technique subjectively and objectively using a new dataset with ground-truth relighting. Results show the ability of our technique to produce photo-realistic and physically plausible results, that generalizes to unseen scenes.Comment: Published in ECCV '20, http://gvv.mpi-inf.mpg.de/projects/SelfRelight

Subcutaneous rupture of the Achilles tendon and ipsilateral fracture of the medial malleolus

BACKGROUND: Although ankle fractures and an Achilles tendon rupture are relatively frequent in isolation, their association in the same injury is uncommon. CASE PRESENTATION: A 38 year old male tree surgeon fell six meters from a tree, sustaining a subcutaneous rupture of the Achilles tendon and an ipsilateral closed fracture of the medial malleolus. The injuries were diagnosed following clinical examination and imaging. CONCLUSION: This injury combination is infrequent, and management of the Achilles tendon rupture should take into account the necessity not to secondarily displace the fracture of the medial malleollus

Antarctic climate, Southern Ocean circulation patterns, and deep water formation during the Eocene

We assess early-to-middle Eocene seawater neodymium (Nd) isotope records from seven Southern Ocean deep-sea drill sites to evaluate the role of Southern Ocean circulation in long-term Cenozoic climate change. Our study sites are strategically located on either side of the Tasman Gateway and are positioned at a range of shallow (Nd(t) = −9.3 ± 1.5). IODP Site U1356 off the coast of Adélie Land, a locus of modern-day Antarctic Bottom Water production, is identified as a site of persistent deep water formation from the early Eocene to the Oligocene. East of the Tasman Gateway an additional local source of intermediate/deep water formation is inferred at ODP Site 277 in the SW Pacific Ocean (εNd(t) = −8.7 ± 1.5). Antarctic-proximal shelf sites (ODP Site 1171 and Site U1356) reveal a pronounced erosional event between 49 and 48 Ma, manifested by ~2 εNd unit negative excursions in seawater chemistry toward the composition of bulk sediments at these sites. This erosional event coincides with the termination of peak global warmth following the Early Eocene Climatic Optimum and is associated with documented cooling across the study region and increased export of Antarctic deep waters, highlighting the complexity and importance of Southern Ocean circulation in the greenhouse climate of the Eocene

Amelogenesis Imperfecta caused by N-Terminal Enamelin Point Mutations in Mice and Men is driven by Endoplasmic Reticulum Stress

‘Amelogenesis imperfecta’ (AI) describes a group of inherited diseases of dental enamel that have major clinical impact. Here, we identify the aetiology driving AI in mice carrying a p.S55I mutation in enamelin; one of the most commonly mutated proteins underlying AI in humans. Our data indicate that the mutation inhibits the ameloblast secretory pathway leading to ER stress and an activated unfolded protein response (UPR). Initially, with the support of the UPR acting in pro-survival mode, Enam(p.S55I) heterozygous mice secreted structurally normal enamel. However, enamel secreted thereafter was structurally abnormal; presumably due to the UPR modulating ameloblast behaviour and function in an attempt to relieve ER stress. Homozygous mutant mice failed to produce enamel. We also identified a novel heterozygous ENAM(p.L31R) mutation causing AI in humans. We hypothesize that ER stress is the aetiological factor in this case of human AI as it shared the characteristic phenotype described above for the Enam(p.S55I) mouse. We previously demonstrated that AI in mice carrying the Amelx(p.Y64H) mutation is a proteinopathy. The current data indicate that AI in Enam(p.S55I) mice is also a proteinopathy, and based on comparative phenotypic analysis, we suggest that human AI resulting from the ENAM(p.L31R) mutation is another proteinopathic disease. Identifying a common aetiology for AI resulting from mutations in two different genes opens the way for developing pharmaceutical interventions designed to relieve ER stress or modulate the UPR during enamel development to ameliorate the clinical phenotype