Au sujet de l'espèce type de Lingularia, et description de Eolingularia n. gen.

Le matériel étudié a été précédemment identifié sous Lingula krausei, récolté dans des blocs erratiques du cap Rozewie (Poméranie, Pologne). Tous les échantillons proviennent des grès glauconieux d'âge cénomanien. Dames (1874) décrit sa Lingula sp. sous L. krausei qui, selon lui, diffère par le contour de la coquille de Lingula truncata. Cette espèce, dédiée à A. Krause, est considérée comme caractéristique du Cénomanien, de même que L. subovalis. Plusieurs espèces nouvelles et de nouveaux genres ont été décrits récemment ou redécrits et comparés à nos spécimens qui ont été finalement décrits et identifiés comme appartenant à Lingularia similis. Selon l'ICZN (1999), l'espèce type L. similis est actuellement synonyme de Lingula krausei. Au sein de la famille Lingulidae, un nouveau genre a été décrit sous Eolingularia avec Lingularia siberica Biernat et Emig, 1993 ; l'extension géologique va du Carbonifère au Trias, en Russie, Chine, Espagne. De possibles synonymies sont discutées.The material under study has previously been identified as Lingula krausei, collected from glacial erratics at Cape Rozewie, Poland. All specimens come from glauconitic sandstone of Cenomanian age. Dames (1874) identified his Lingula sp. as L. krausei which differs in shell outline from Lingula truncata. This species, dedicated to A. Krause, together with L. subovalis, is considered characteristic of the Cenomanian. Several new species and genera have recently been described or redescribed and compared to our specimens, here identified as Lingularia similis. By priority (ICZN, 1999), the type species L. similis is currently synonymized with Lingula krausei. A new genus Eolingularia, within the Family Lingulidae, is here described, with Lingularia siberica Biernat et Emig, 1993, as type species. This new genus ranges from the Carboniferous to the Triassic in Russia, China, and Spain. Possible synonymies are discussed

Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution

Usher syndrome-associated retinitis pigmentosa (RP) causes progressive retinal degeneration, which has no cure. The pathomechanism of Usher type 1B (USH1B)-RP caused by MYO7A mutation remains elusive because of the lack of faithful animal models and limited knowledge of MYO7A function. Here, we analyzed 3D retinal organoids generated from USH1B patient-derived induced pluripotent stem cells. Increased differential gene expression occurred over time without excessive photoreceptor cell death in USH1B organoids compared with controls. Dysregulated genes were enriched first for mitochondrial functions and then proteasomal ubiquitin-dependent protein catabolic processes and RNA splicing. Single-cell RNA sequencing revealed MYO7A expression in rod photoreceptor and Müller glial cells corresponding to upregulation of stress responses in NRL+ rods and apoptotic signaling pathways in VIM+ Müller cells, pointing to the defensive mechanisms that mitigate photoreceptor cell death. This first human model for USH1B-RP provides a representation of patient retina in vivo relevant for development of therapeutic strategies

Glas scientifique pour les bases de données ? Erreurs induites par des manipulations de bases de données et leurs conséquences

References to Terebratulina caputserpentis attributing its authorship to Zbyszewski, 1957, not to Linnæus, 1767, have been found in three recent publications, in the collections of the Muséum National d'Histoire naturelle de Paris and in several online databases. The use in these databases seems to have arisen from WoRMS (World Register of Marine Species), specifically from WBD (World Brachiopoda Database) of which the three authors of this paper are the editors (authors). The page concerning T. caputserpentis (Linnæus, 1767) has been modified by WoRMS staff without the knowledge of these editors (authors). The decrease of the specialists in systematics and their replacement by IT specialists question the scientific reliability of the online databases as well as the specimen labelling in museums. The absence of scientific rigour becomes their Achilles' heel. Several other cases of errors are quoted and developed. In spite of applications to the staff of databases in biodiversity, the situation continued degrading so much so that today these bases are reached by the Peter principle and can no longer be used for scientific requirements, except if verifying all the desired data.La découverte de l'attribution de Terebratulina caputserpentis (Linnæus, 1767) à un autre auteur (Zbyszewski, 1957) nous a conduit à rechercher l'origine de cette citation. Cette espèce est synonyme de T. retusa (Linnæus, 1758), espèce type du genre. Des réferences à T. caputserpentis (Zbyszewski, 1957) ont été trouvées dans trois publications récentes, dans les collections du Muséum National d'Histoire naturelle de Paris et dans plusieurs bases de données en ligne, dont l'origine semble provenir de WoRMS (World Register of Marine Species), donc de la base de données WBD (World Brachiopoda Database) dont les trois auteurs de cette note sont les éditeurs (auteurs). C'est à leur insu que la fiche du synonyme Terebratulina caputserpentis (Linnæus, 1767) a été modifiée par les informaticiens de WoRMS. La diminution du nombre de spécialistes en systématique et leur remplacement par des techniciens informaticiens obligent à revoir la fiabilité des bases de données mises en ligne ou même l'identification des spécimens dans les muséums. L'absence de rigueur scientifique devient leur talon d'Achille. Plusieurs autres cas d'erreurs sont cités et développés. Malgré des interventions auprès des responsables techniques des bases de données en biodiversité, la situation a continué à se dégrader au point qu'aujourd'hui ces bases sont atteintes par le principe de Peter et ne peuvent plus être considérées comme utilisables par la communauté scientifique, sauf à vérifier l'exactitude de toutes les données souhaitées

Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study

PURPOSE: Little is known about how health-care professionals communicate with patients about consenting to genome sequencing. We therefore examined what topics health-care professionals covered and what questions patients asked during consent conversations. METHODS: Twenty-one genome sequencing consent appointments were audio recorded and analyzed. Participants were 35 individuals being invited to participate in the 100,000 Genomes Project (14 participants with rare diseases, 21 relatives), and 10 health-care professionals ("consenters"). RESULTS: Two-thirds of participants' questions were substantive (e.g., genetics and inheritance); one-third administrative (e.g., filling in the consent form). Consenters usually (19/21) emphasized participant choice about secondary findings, but less often (13/21) emphasized the uncertainty about associated disease risks. Consenters primarily used passive statements and closed-ended, rather than open-ended, questions to invite participants' questions and concerns. In two appointments, one parent expressed negative or uncertain views about secondary findings, but after discussion with the other parent opted to receive them. CONCLUSION: Health-care professionals need to be prepared to answer patients' questions about genetics to facilitate genome sequencing consent. Health-care professionals' education also needs to address how to effectively listen and elicit each patient's questions and views, and how to discuss uncertainty around the disease risks associated with secondary findings

Moving from a Product-Based Economy to a Service-Based Economy for a More Sustainable Future

Traditionally, economic growth and prosperity have been linked with the availability, production and distribution of tangible goods as well as the ability of consumers to acquire such goods. Early evidence regarding this connection dates back to Adam Smith's Wealth of Nations (1776), in which any activity not resulting in the production of a tangible good is characterized as unproductive of any value." Since then, this coupling of economic value and material production has been prevalent in both developed and developing economies throughout the world. One unintended consequence of this coupling has been the exponential increase in the amount of solid waste being generated. The reason is that any production and consumption of material goods eventually generates the equivalent amount of (or even more) waste. Exacerbating this problem is the fact that, with today's manufacturing and supply chain management technologies, it has become cheaper to dispose and replace most products rather than to repair and reuse them. This has given rise to what some call a disposable society." To put things in perspective: In 2012 households in the U.K. generated approximately 22 thousand tons of waste, which amounted to 411 kg of waste generated per person (Department for Environment, Food & Rural Affairs, 2015). During the same time period, households in the U.S. generated 251 million tons of waste, which is equivalent to a person generating approximately 2 kg of waste every day (U.S. Environmental Protection Agency, 2012). Out of these 251 million tons of total waste generated, approximately 20% of the discarded items were categorized as durable goods. The disposal of durable goods is particularly worrisome because they are typically produced using material from non- renewable resources such as iron, minerals, and petroleum-based raw materials

The Intentional Use of Service Recovery Strategies to Influence Consumer Emotion, Cognition and Behaviour

Service recovery strategies have been identified as a critical factor in the success of. service organizations. This study develops a conceptual frame work to investigate how specific service recovery strategies influence the emotional, cognitive and negative behavioural responses of . consumers., as well as how emotion and cognition influence negative behavior. Understanding the impact of specific service recovery strategies will allow service providers' to more deliberately and intentionally engage in strategies that result in positive organizational outcomes. This study was conducted using a 2 x 2 between-subjects quasi-experimental design. The results suggest that service recovery has a significant impact on emotion, cognition and negative behavior. Similarly, satisfaction, negative emotion and positive emotion all influence negative behavior but distributive justice has no effect

A Search for Mid-Infrared Molecular Hydrogen Emission from Protoplanetary Disks

We observed the Herbig Ae/Be stars UX Ori, HD 34282, HD 100453, HD 101412, HD 104237 and HD 142666, and the T Tauri star HD 319139 and searched for H2 0-0 S(2) emission at 12.278 micron and H2 0-0 S(1) emission at 17.035 micron with VISIR, ESO-VLT's high-resolution MIR spectrograph. None of the sources present evidence for H2 emission. Stringent 3sigma upper limits to the integrated line fluxes and the mass of optically thin warm gas in the disks are derived. The disks contain less than a few tenths of Jupiter mass of optically thin H2 gas at 150 K at most, and less than a few Earth masses of optically thin H2 gas at 300 K and higher temperatures. We compare our results to a Chiang and Goldreich (1997, CG97) two-layer disk model. The upper limits to the disk's optically thin warm gas mass are smaller than the amount of warm gas in the interior layer of the disk, but they are much larger than the amount of molecular gas in the surface layer. We present a calculation of the expected thermal H2 emission from optically thick disks, assuming a CG97 disk structure, a gas-to-dust ratio of 100 and Tgas = Tdust. The expected H2 thermal emission fluxes from typical disks around Herbig Ae/Be stars (10^-16 to 10^-17 erg/s/cm2 at 140 pc) are much lower than the detection limits of our observations (5*10^-15 erg/s/cm2). H2 emission levels are very sensitive to departures from the thermal coupling between the molecular gas and dust. Additional sources of heating of gas in the disk's surface layer could have a major impact on the expected H2 disk emission. In the observed sources the molecular gas and dust in the surface layer have not significantly departed from thermal coupling (Tgas/Tdust< 2) and that the gas-to-dust ratio in the surface layer is very likely lower than 1000.Comment: 16 pages, 9 figures, accepted by A&A. v2: typo in footnote ** corrected, v3: corrections of the A&A language editor included, typo in title of Fig. 1. correcte

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease

Deafness affects 5% of the world's population, yet there is a lack of treatments to prevent hearing loss due to genetic causes. Norrie disease is a recessive X‐linked disorder, caused by NDP gene mutation. It manifests as blindness at birth and progressive sensorineural hearing loss, leading to debilitating dual sensory deprivation. To develop a gene therapy, we used a Norrie disease mouse model (Ndp$^{tm1Wbrg}$), which recapitulates abnormal retinal vascularisation and progressive hearing loss. We delivered human NDP cDNA by intravenous injection of adeno‐associated viral vector (AAV)9 at neonatal, juvenile and young adult pathological stages and investigated its therapeutic effects on the retina and cochlea. Neonatal treatment prevented the death of the sensory cochlear hair cells and rescued cochlear disease biomarkers as demonstrated by RNAseq and physiological measurements of auditory function. Retinal vascularisation and electroretinograms were restored to normal by neonatal treatment. Delivery of NDP gene therapy after the onset of the degenerative inner ear disease also ameliorated the cochlear pathology, supporting the feasibility of a clinical treatment for progressive hearing loss in people with Norrie disease

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease

Deafness affects 5% of the world's population, yet there is a lack of treatments to prevent hearing loss due to genetic causes. Norrie disease is a recessive X-linked disorder, caused by NDP gene mutation. It manifests as blindness at birth and progressive sensorineural hearing loss, leading to debilitating dual sensory deprivation. To develop a gene therapy, we used a Norrie disease mouse model (Ndptm1Wbrg ), which recapitulates abnormal retinal vascularisation and progressive hearing loss. We delivered human NDP cDNA by intravenous injection of adeno-associated viral vector (AAV)9 at neonatal, juvenile and young adult pathological stages and investigated its therapeutic effects on the retina and cochlea. Neonatal treatment prevented the death of the sensory cochlear hair cells and rescued cochlear disease biomarkers as demonstrated by RNAseq and physiological measurements of auditory function. Retinal vascularisation and electroretinograms were restored to normal by neonatal treatment. Delivery of NDP gene therapy after the onset of the degenerative inner ear disease also ameliorated the cochlear pathology, supporting the feasibility of a clinical treatment for progressive hearing loss in people with Norrie disease