New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

Nicotinamide adenine dinucleotide (NAD) is an essential coenzyme involved in over 400 cellular reactions. During embryogenesis, mammals synthesize NAD de novo from dietary l -tryptophan via the kynurenine pathway. Biallelic, inactivating variants in three genes encoding enzymes of this biosynthesis pathway (KYNU, HAAO, and NADSYN1) disrupt NAD synthesis and have been identified in patients with multiple malformations of the heart, kidney, vertebrae, and limbs; these patients have Congenital NAD Deficiency Disorder HAAO and four families with biallelic variants in KYNU. These patients present similarly with multiple malformations of the heart, kidney, vertebrae, and limbs, of variable severity. We show that each variant identified in these patients results in loss-of-function, revealed by a significant reduction in NAD levels via yeast genetic complementation assays. For the first time, missense mutations are identified as a cause of malformation and shown to disrupt enzyme function. These missense and frameshift variants cause moderate to severe NAD deficiency in yeast, analogous to insufficient synthesized NAD in patients. We hereby expand the genotypic and corresponding phenotypic spectrum of Congenital NAD Deficiency Disorder.

Hermenêutica simbólica, Jung e transdiciplinariedade: luzes e sombras na educação / Hermenéutica simbólica, Jung y transdisciplinariedad: luces y sombras en la educación / Symbolic hermeneutics, Jung and multidisciplinarity: light and dark in education / Herméneutique symbolique, Jung et transdisciplinarité: d'ombres et de lumières dans l'éducation

Resumo Este artigo de revisão e análise narrativa de literatura parte da perspectiva transdisciplinar com o objetivo de buscar alternativas epistêmico-metodológicas para que as pesquisas em educação desloquem-se da mera aquisição de conhecimentos à possibilidade de ampliação da consciência. O percurso narrativo do trabalho transita pelas interfaces dialógicas entre os pressupostos da transdisciplinariedade e os da hermenêutica simbólica do círculo de Eranos (HSCE). De forma inédita, alcança o objetivo no uso do conceito de unus mundus (Carl Gustav Jung) como ferramenta simbólica do fazer hermenêutico de transformação da realidade. No processo, via circularidade hermenêutica, múltiplas interfaces emergem a cada instância percorrida nas polaridades de luz e sombra, entre teorias e biografias.

Resumen Este artículo de revisión y análisis narrativo de la literatura parte de una perspectiva transdisciplinar con el objetivo de buscar alternativas epistémico-metodológicas para que la investigación en educación pase de la mera adquisición de conocimientos a la posibilidad de expansión de la conciencia. El texto establece interfaces dialógicas entre los supuestos de la transdisciplinariedad y los de la hermenéutica simbólica del círculo de Eranos (HSCE). Se alcanza la meta de manera inédita con el uso del concepto de unus mundus (Carl Gustav Jung) como herramienta simbólica del hacer hermenéutico de transformación de la realidad. En el proceso, por medio de la circularidad hermenéutica, emergen múltiples interfaces en cada instancia recorrida por las polaridades de luz y sombra, entre teorías y biografías.

Abstract This review and narrative analysis of the literature adopts a multidisciplinary approach to seek epistemological-methodological approaches for research in education to switch from mere knowledge spreading into a potential increase in consciousness. This paper follows the dialogical interface between multidisciplinarity and the symbolic hermeneutics of the Eranos circle (HSCE). It utilizes the concept of unus mundus by Carl Gustav Jung as a symbolic tool of hermeneutic work that transforms reality. By this hermeneutic circularity process, multiple interfaces emerge for every step in analyzing theories and biographies, following a dichotomy of light and dark.

Résumé Cet article de synthèse et analyse narrative littéraire s'appui sur la perspective transdisciplinaire pour trouver des alternatives épistémico-méthodologiques pour que la recherche en éducation passe de la simple acquisition de connaissances à l'extension de la conscience. Notre parcours narratif passe par les interfaces dialogiques entre les postulats de la transdisciplinarité et de l'herméneutique symbolique du Cercle d'Eranos (HSCE). D'une manière sans précèdent, on trouve utiliser le concept d'unus mundus (Carl Gustav Jung) comme un outil symbolique pour la transformation herméneutique de la réalité. Ce faisant, par circularité herméneutique, plusieurs interfaces émergent à chaque sphère parcourue dans la polarité de l'ombre et de la lumière, entre théorie et biographie.

The roles and interactions of symbiont, host and environment in defining coral fitness.

BACKGROUND: Reef-building corals live in symbiosis with a diverse range of dinoflagellate algae (genus Symbiodinium) that differentially influence the fitness of the coral holobiont. The comparative role of symbiont type in holobiont fitness in relation to host genotype or the environment, however, is largely unknown. We addressed this knowledge gap by manipulating host-symbiont combinations and comparing growth, survival and thermal tolerance among the resultant holobionts in different environments. METHODOLOGY/PRINCIPAL FINDINGS: Offspring of the coral, Acropora millepora, from two thermally contrasting locations, were experimentally infected with one of six Symbiodinium types, which spanned three phylogenetic clades (A, C and D), and then outplanted to the two parental field locations (central and southern inshore Great Barrier Reef, Australia). Growth and survival of juvenile corals were monitored for 31-35 weeks, after which their thermo-tolerance was experimentally assessed. Our results showed that: (1) Symbiodinium type was the most important predictor of holobiont fitness, as measured by growth, survival, and thermo-tolerance; (2) growth and survival, but not heat-tolerance, were also affected by local environmental conditions; and (3) host population had little to no effect on holobiont fitness. Furthermore, coral-algal associations were established with symbiont types belonging to clades A, C and D, but three out of four symbiont types belonging to clade C failed to establish a symbiosis. Associations with clade A had the lowest fitness and were unstable in the field. Lastly, Symbiodinium types C1 and D were found to be relatively thermo-tolerant, with type D conferring the highest tolerance in A. millepora. CONCLUSIONS/SIGNIFICANCE: These results highlight the complex interactions that occur between the coral host, the algal symbiont, and the environment to shape the fitness of the coral holobiont. An improved understanding of the factors affecting coral holobiont fitness will assist in predicting the responses of corals to global climate change.