Nasal obstruction in neonates: Two cases report of congenital nasal pyriform aperture stenosis

A Estenose Congénita do Orifício Piriforme (ECOP) é uma causa rara de obstrução nasal no recém-nascido, um respirador nasal obrigatório, e por isso potencialmente fatal. Obriga a diagnóstico diferencial com causas mais comuns como a atrésia choanal. Na clínica predominam a apneia episódica e a cianose cíclica, sendo o diagnóstico confirmado imagiologicamente. Pode surgir isoladamente ou associada a alterações crâniofaciais, hipopituitarismo e cromossomopatias. A correcção cirúrgica impõe-se face ao insucesso do tratamento médico. Este artigo tem por objectivo relatar dois casos clínicos de ECOP. O primeiro caso foi diagnosticado à nascença, não apresentava patologia concomitante e estabilizou clinicamente apenas com terapêutica médica. O segundo caso relata lactente de 3 meses, cujo estudo imagiológico identificou dente incisivo superior mediano único, como malformação associada. Pela gravidade da obstrução nasal a abordagem exigiu, para além da terapêutica nasal tópica, a correcção cirúrgica da estenose. Ambas as crianças encontram-se clinicamente beminfo:eu-repo/semantics/publishedVersio

Constructing a social subject: autism and human sociality in the 1980s

This article examines three key aetiological theories of autism (meta-representations, executive dysfunction and weak central coherence), which emerged within cognitive psychology in the latter half of the 1980s. Drawing upon Foucault’s notion of ‘forms of possible knowledge’, and in particular his concept of savoir or depth knowledge, two key claims are made. First, it is argued that a particular production of autism became available to questions of truth and falsity following a radical reconstruction of ‘the social’ in which human sociality was taken both to exclusively concern interpersonal interaction and to be continuous with non-social cognition. Second, it is suggested that this recon- struction of the social has affected the contemporary cultural experience of autism, shift- ing attention towards previously unacknowledged cognitive aspects of the condition. The article concludes by situating these claims in relation to other historical accounts of the emergence of autism and ongoing debates surrounding changing articulations of social action in the psy disciplines

Motivations for seeking experimental treatment in Japan

In this article on innovative medical treatment for serious conditions in Japan we aim to revise two widespread notions: first, that people living with severe conditions are all waiting for a cure or are impatient to try out experimental treatment, in particular regenerative medicine. Showing that motivations for cure seeking are complex and linked to somatic identity, we argue that gaining a cure also means a new social normality, which for some people narrows the only normality that is meaningful to them; and, second, that people living with a serious (latent) condition necessarily define their lives as not normal in the light of normalization. People with a condition conceptualise normal life variously and multiply in the light of both individual and collective experiences. The two revisions are crucial to attempts at understanding what makes people seek experimental medicine. Comparing the narratives of people with four different conditions – spinal cord injury, Duchenne muscular dystrophy, Diabetes Mellitus type 1 and cardiovascular disease – it becomes clear that the difference between seeking treatment or not largely depends on somatic identities; rather than through notions of (ab)normality, it is more adequately understood in terms of the experience of somatic lacking and wholeness

Evolution of the carnivorous dinosaurs during the Cretaceous: The evidence from Patagonia

Patagonia has yielded the most comprehensive fossil record of Cretaceous theropods from Gondwana, consisting of 31 nominal species belonging to singleton taxa and six families: Abelisauridae, Noasauridae, Carcharodontosauridae, Megaraptoridae nov. fam., Alvarezsauridae, and Unenlagiidae. They provide anatomical information that allows improved interpretation of theropods discovered in other regions of Gondwana. Abelisauroids are the best represented theropods in Patagonia. They underwent an evolutionary radiation documented from the Early Cretaceous through to the latest Cretaceous, and are represented by the clades Abelisauridae and Noasauridae. Patagonian carcharodontosaurids are known from three taxa (Tyr- annotitan, Giganotosaurus and Mapusaurus), as well as from isolated teeth, collected from Aptian to Cenomanian beds. These allosauroids constituted the top predators during the mid-Cretaceous, during which gigantic titanosaur sauropods were the largest herbivores. Megaraptorans have become better documented in recent years with the discovery of more complete remains. Megaraptor, Aerosteon and Orkoraptor have been described from Cretaceous beds from Argentina, and these taxa exhibit close relationships with the Aptian genera Australovenator, from Australia, and Fukuiraptor, from Japan. The Gondwanan megaraptorans are gathered into the new family Megaraptoridae, and the Asiatic Fukuiraptor is recovered as the immediate sister taxon of this clade. Although megaraptorans have been recently interpreted as members of Allo- sauroidea, we present evidence that they are deeply nested within Coelurosauria. Moreover, anatomical information supports Megaraptora as more closely related to the Asiamerican Tyrannosauridae than thought. Megaraptorans improve our knowledge about the scarcely documented basal radiation of Gond- wanan coelurosaurs and tyrannosauroids as a whole. Information at hand indicates that South America was a cradle for the evolutionary radiation for different coelurosaurian lineages, including some basal forms (e.g., Bicentenaria, Aniksosaurus), megaraptorans, alvarezsaurids less derived than those of Laurasia, and unenlagiids, revealing that Gondwanan coelurosaurs played sharply differing ecological roles, and that they were taxonomically as diverse as in the northern continents. The unenlagiids represent an endemic South American clade that has been recently found to be more closely related to birds than to dromaeosaurid theropods. Analysis of the theropod fossil record from Gondwana shows the highest peak of origination index occurred during the AptianeAlbian and a less intense one in the Campanian time spans. Additionally, peaks of extinction index are recognized for the Cenomanian and TuronianeConiacian time spans. In comparison, the Laurasian pattern differs from that of Gondwana in the presence of an older extinction event during the AptianeAlbian time-span and a high origination rate during the Cenomanian time-bin. Both Laurasian and Gondwanan theropod records show a peak of origination rates during the Campanian.Fil: Novas, Fernando E. Laboratorio de Anatomía Comparada y Evolución de los Vertebrados. Museo Argentino de Ciencias Naturales “Bernardino Rivadavia"; Argentina.Fil: Novas, Fernando E. Consejo Nacional de Investigaciones Científicas y Técnicas, Argentina; Argentina.Fil: Agnolín, Federico L. Laboratorio de Anatomía Comparada y Evolución de los Vertebrados. Museo Argentino de Ciencias Naturales “Bernardino Rivadavia"; Argentina.Fil: Agnolín, Federico L. Universidad Maimónides. Fundación de Historia Natural “Félix de Azara”; Argentina.Fil: Ezcurra, Martín D. University, Richard-Wager. GeoBio-Center, Ludwig-Maximilian; Alemania.Fil: Porfiri, Juan. Universidad Nacional del Comahue. Centro Paleontológico Lago Barreales-Proyecto Dino; Argentina.Fil: Canale, Juan I. Consejo Nacional de Investigaciones Científicas y Técnicas, Argentina; Argentina.Fil: Canale, Juan I. Museo Municipal Ernesto Bachmann; Argentina

A Mesozoic bird from Gondwana preserving feathers

The fossil record of birds in the Mesozoic of Gondwana is mostly based on isolated and often poorly preserved specimens, none of which has preserved details on feather anatomy. We provide the description of a fossil bird represented by a skeleton with feathers from the Early Cretaceous of Gondwana (NE Brazil). The specimen sheds light on the homology and 3D structure of the rachis-dominated feathers, previously known from two-dimensional slabs. The rectrices exhibit a row of rounded spots, probably corresponding to some original colour pattern. The specimen supports the identification of the feather scapus as the rachis, which is notably robust and elliptical in cross-section. In spite of its juvenile nature, the tail plumage resembles the feathering of adult individuals of modern birds. Documentation of rachis-dominated tail in South American enantiornithines broadens the paleobiogeographic distribution of basal birds with this tail feather morphotype, up to now only reported from China.Fil: De Souza Carvalho, Ismar. Universidade Federal do Rio de Janeiro; BrasilFil: Novas, Fernando Emilio. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "Bernardino Rivadavia"; ArgentinaFil: Agnolin, Federico. Universidad Maimónides; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "Bernardino Rivadavia"; ArgentinaFil: Isasi, Marcelo Pablo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "Bernardino Rivadavia"; Argentina. Universidad Maimónides; ArgentinaFil: Freitas, Francisco I.. Geopark Araripe; BrasilFil: Andrade, José A.. No especifíca

The higher-level phylogeny of Archosauria (Tetrapoda:Diapsida)

Crown group Archosauria, which includes birds, dinosaurs, crocodylomorphs, and several extinct Mesozoic groups, is a primary division of the vertebrate tree of life. However, the higher-level phylogenetic relationships within Archosauria are poorly resolved and controversial, despite years of study. The phylogeny of crocodile-line archosaurs (Crurotarsi) is particularly contentious, and has been plagued by problematic taxon and character sampling. Recent discoveries and renewed focus on archosaur anatomy enable the compilation of a new dataset, which assimilates and standardizes character data pertinent to higher-level archosaur phylogeny, and is scored across the largest group of taxa yet analysed. This dataset includes 47 new characters (25% of total) and eight taxa that have yet to be included in an analysis, and total taxonomic sampling is more than twice that of any previous study. This analysis produces a well-resolved phylogeny, which recovers mostly traditional relationships within Avemetatarsalia, places Phytosauria as a basal crurotarsan clade, finds a close relationship between Aetosauria and Crocodylomorpha, and recovers a monophyletic Rauisuchia comprised of two major subclades. Support values are low, suggesting rampant homoplasy and missing data within Archosauria, but the phylogeny is highly congruent with stratigraphy. Comparison with alternative analyses identifies numerous scoring differences, but indicates that character sampling is the main source of incongruence. The phylogeny implies major missing lineages in the Early Triassic and may support a Carnian-Norian extinction event.Marshall Scholarship for study in the United KingdomJurassic FoundationUniversity of BristolPaleontological Societ

Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

The multiple genetic approaches available for molecular diagnosis of human diseases have made possible to identify an increasing number of pathogenic genetic changes, particularly with the advent of next generation sequencing (NGS) technologies. However, the main challenge lies in the interpretation of their functional impact, which has resulted in the widespread use of animal models. We describe here the functional modelling of seven BBS loci variants, most of them novel, in zebrafish embryos to validate their in silico prediction of pathogenicity. We show that target knockdown (KD) of known BBS (BBS1, BB5 or BBS6) loci leads to developmental defects commonly associated with ciliopathies, as previously described. These KD pleiotropic phenotypes were rescued by co-injecting human wild type (WT) loci sequence but not with the equivalent mutated mRNAs, providing evidence of the pathogenic effect of these BBS changes. Furthermore, direct assessment of cilia located in Kupffer’s vesicle (KV) showed a reduction of ciliary length associated with all the studied variants, thus confirming a deleterious effect. Taken together, our results seem to prove the pathogenicity of the already classified and unclassified new BBS variants, as well as highlight the usefulness of zebrafish as an animal model for in vivo assays in human ciliopathiesMinisterio de Economía y Competitividad | Ref. AGL2017-89648

A basal lithostrotian titanosaur (Dinosauria: Sauropoda) with a complete skull: Implications for the evolution and paleobiology of titanosauria

We describe Sarmientosaurus musacchioi gen. et sp. nov., a titanosaurian sauropod dinosaur from the Upper Cretaceous (Cenomanian - Turonian) Lower Member of the Bajo Barreal Formation of southern Chubut Province in central Patagonia, Argentina. The holotypic and only known specimen consists of an articulated, virtually complete skull and part of the cranial and middle cervical series. Sarmientosaurus exhibits the following distinctive features that we interpret as autapomorphies: (1) maximum diameter of orbit nearly 40% rostrocaudal length of cranium; (2) complex maxilla - lacrimal articulation, in which the lacrimal clasps the ascending ramus of the maxilla; (3) medial edge of caudal sector of maxillary ascending ramus bordering bony nasal aperture with low but distinct ridge; (4) ´tongue-like´ ventral process of quadratojugal that overlaps quadrate caudally; (5) separate foramina for all three branches of the trigeminal nerve; (6) absence of median venous canal connecting infundibular region to ventral part of brainstem; (7) subvertical premaxillary, procumbent maxillary, and recumbent dentary teeth; (8) cervical vertebrae with ´strut-like´ centroprezygapophyseal laminae; (9) extremely elongate and slender ossified tendon positioned ventrolateral to cervical vertebrae and ribs. The cranial endocast of Sarmientosaurus preserves some of the most complete information obtained to date regarding the brain and sensory systems of sauropods. Phylogenetic analysis recovers the new taxon as a basal member of Lithostrotia, as the most plesiomorphic titanosaurian to be preserved with a complete skull. Sarmientosaurus provides a wealth of new cranial evidence that reaffirms the close relationship of titanosaurs to Brachiosauridae. Moreover, the presence of the relatively derived lithostrotian Tapuiasaurus in Aptian deposits indicates that the new Patagonian genus represents a ´ghost lineage´ with a comparatively plesiomorphic craniodental form, the evolutionary history of which is missing for at least 13 million years of the Cretaceous. The skull anatomy of Sarmientosaurus suggests that multiple titanosaurian species with dissimilar cranial structures coexisted in the early Late Cretaceous of southern South America. Furthermore, the new taxon possesses a number of distinctive morphologies - such as the ossified cervical tendon, extremely pneumatized cervical vertebrae, and a habitually downward- facing snout - that have rarely, if ever, been documented in other titanosaurs, thus broadening our understanding of the anatomical diversity of this remarkable sauropod clade. The latter two features were convergently acquired by at least one penecontemporaneous diplodocoid, and may represent mutual specializations for consuming low-growing vegetation.Fil: Martínez, Rubén Darío. Universidad Nacional de la Patagonia; ArgentinaFil: Lamanna, Matthew C.. Carnegie Museum Of Natural History; Estados UnidosFil: Novas, Fernando Emilio. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "bernardino Rivadavia"; ArgentinaFil: Ridgely, Ryan C.. Ohio University College Of Osteopathic Medicine; Estados UnidosFil: Casal, Gabriel. Universidad Nacional de la Patagonia; ArgentinaFil: Martínez, Javier E.. Hospital Regional de Comodoro Rivadavia; ArgentinaFil: Vita, Javier R.. Resonancia Magnética Borelli; ArgentinaFil: Witmer, Lawrence M.. Ohio University College Of Osteopathic Medicine; Estados Unido

Plataforma web de soporte a la gestión de la producción, integrando IoT, analítica y programación predictiva de operaciones: un caso en industria de envases soplados

Actualmente, las PyMES industriales deben enfrentar el desafío de adaptarse al paradigma productivo de Industria 4.0 (I4.0), adoptando nuevas tecnologías y adecuando sus procesos. La producción es un área clave y crítica, la cual se requiere sea cada vez más ágil, con capacidad de respuesta rápida y eficiente en sus operaciones. En este sentido, el presente trabajo muestra los resultados logrados en el desarrollo de una plataforma web que da soporte al área de gestión de producción, para una empresa de elaboración de envases plásticos. La misma, integra tecnologías habilitadoras I4.0 como IoT, analítica y modelos prescriptivos matemáticos para la programación de la producción

Why Are Outcomes Different for Registry Patients Enrolled Prospectively and Retrospectively? Insights from the Global Anticoagulant Registry in the FIELD-Atrial Fibrillation (GARFIELD-AF).

Background: Retrospective and prospective observational studies are designed to reflect real-world evidence on clinical practice, but can yield conflicting results. The GARFIELD-AF Registry includes both methods of enrolment and allows analysis of differences in patient characteristics and outcomes that may result. Methods and Results: Patients with atrial fibrillation (AF) and ≥1 risk factor for stroke at diagnosis of AF were recruited either retrospectively (n = 5069) or prospectively (n = 5501) from 19 countries and then followed prospectively. The retrospectively enrolled cohort comprised patients with established AF (for a least 6, and up to 24 months before enrolment), who were identified retrospectively (and baseline and partial follow-up data were collected from the emedical records) and then followed prospectively between 0-18 months (such that the total time of follow-up was 24 months; data collection Dec-2009 and Oct-2010). In the prospectively enrolled cohort, patients with newly diagnosed AF (≤6 weeks after diagnosis) were recruited between Mar-2010 and Oct-2011 and were followed for 24 months after enrolment. Differences between the cohorts were observed in clinical characteristics, including type of AF, stroke prevention strategies, and event rates. More patients in the retrospectively identified cohort received vitamin K antagonists (62.1% vs. 53.2%) and fewer received non-vitamin K oral anticoagulants (1.8% vs . 4.2%). All-cause mortality rates per 100 person-years during the prospective follow-up (starting the first study visit up to 1 year) were significantly lower in the retrospective than prospectively identified cohort (3.04 [95% CI 2.51 to 3.67] vs . 4.05 [95% CI 3.53 to 4.63]; p = 0.016). Conclusions: Interpretations of data from registries that aim to evaluate the characteristics and outcomes of patients with AF must take account of differences in registry design and the impact of recall bias and survivorship bias that is incurred with retrospective enrolment. Clinical Trial Registration: - URL: http://www.clinicaltrials.gov . Unique identifier for GARFIELD-AF (NCT01090362)