L'ostéolyse expansive familiale : manifestations otologiques et dentaires d'origine génétique

RESUME Nous rapportons l'étude d'une famille de 49 membres sur 5 générations. Parmi 35 membres étudiés, 18 sont atteints d'Osteolyse Expansive Familiale (OEF). L'OEF est une dysplasie osseuse génétique rare, autosomique dominante, dont les altérations locales et générales du squelette ont une distribution périphérique prédominante qui devient manifeste à partir de la deuxième décennie de vie. Une résorption ostéoclastique progressive, accompagnée d'une faible activité ostéoblastique, est à l'origine d'une expansion médullaire osseuse. Cette dernière est caractérisée par une raréfaction de la moelle osseuse qui est remplacée par du tissu fibreux et de la graisse. L'amincissement de la moelle osseuse aboutit à des déformations invalidantes, sévères et douloureuses du squelette, avec tendance aux fractures spontanées. La première manifestation clinique de la maladie est une surdité de transmission très précoce résultant d'une lyse de la chaîne ossiculaire. Radiologiquement, il existe toujours une pneumatisation marquée de la mastoïde et du rocher. Les dents montrent des signes importants de résorption osseuse au niveau de la région apicale et/ou du collet, dont l'aspect est caractéristique et unique. La phosphatase alcaline sérique, l'hydroxyproline et la deoxypiridoline urinaire sont élevées à des taux variables. Le taux de calcium et d'hormone parathyroïdienne est normal. Le traitement par les diphosphonates, la calcitonine et la vitamine D est inefficace. Histologiquement, l'OEF présente des similitudes avec la maladie de Paget, mais l'âge de début, la distribution des lésions osseuses, les altérations dentaires et de l'oreille moyenne, ainsi que la progression clinique sont différents. Il en va de même pour la dysplasie fibreuse, l'ostéite fibro-kystique et l'ostéogénèse imparfaite. Le gêne responsable de la maladie se localise dans la région du chromosome 18q21-22. Récemment, des mutations du TNFRSF 11A, gêne qui codifie le RANK, ont été identifiées comme étant la cause de l'OEF. La duplication de la 18ème paire de base au niveau de l'exon 1 suggère qu'il correspond au site de l'anomalie. La technique chirurgicale et les résultats audiométriques à court et long terme de 13 interventions chez 8 patients sont présentés. ABSTRACT Objectives: Familial Expansive Osteolysis (EEO) is a rare autosomal dominant bone dys¬plasia. The disease can show general and focal skeletal alterations, the latter having a pre¬dominantly peripheral distribution. Onset occurs after the second decade of life. Patients and methods: We present the study, of 30 years, of a family consisting of 49 members covering five generations. Results: Among the 35 members studied, 18 have familial expansive osteolysis (FEO). The first clinical sign of the condition is transmission deafness at an early age. The features of the teeth has a unique and characteristic appearance. Thinning of the corti¬cal bone leads to severe, painful, disabling deformities. Serum alkaline phosphatase, and urinary hydroxyproline and deoxipyridinoline are elevated. Calcium and parathyroid hor¬mone are normal. Treatment with diphosphonates, calcitonin and vitamin D has been unsuccessful. We present the surgical technology and the results to short and long term of 13 interventions on 8 patients. Conclusion: Progressive osteoclastic reabsorption accompanied by weak osteoblastic activ¬ity results in medullary expansion characterized by rarefaction of the bone marrow, which is replaced by fibrous tissue and fat. FE0 is histologically similar to Paget disease, but the age of onset, the distribution of the bone lesions, the dental and middle ear alterations, and the clin¬ical progression are different. These features also differentiate FE0 from fibrous dysplasia, fibrocystic osteitis and imperfect osteogenesis. The gene responsible for EEO is located in the 18q21-22 chromosome region. Mutations in TNFRSF11A, the gene encoding receptor activa¬tor of nuclear factor-kappa-B (RANK), has been recently identified as the cause of FEO. A duplication of 18 base pairs in exon 1 of the TNFRSF11A gene suggests that this corresponds to the site of the anomaly and can be considered a "hot spot" for mutations.

Variabilidade genética e herança da tolerância à toxicidade do alumínio em aveia

Vinte e um genótipos de aveia (Avena sativa L.) do programa de melhoramento da Universidade Federal do Rio Grande do Sul foram avaliados quanto à reação ao alumínio (Al) tóxico em solução nutritiva. Os níveis de Al testados foram 5, 10, 15, 20 e 30 g kJ-1, e o recrescimento da raiz foi medido depois de 48 horas sob a ação do metal. A variabilidade fenotípica foi observada a partir de 10 g kJ-1; em 20 g kJ-1 foram discriminados genótipos tolerantes e sensíveis. As bases genéticas da tolerância ao Al foram estudadas nas gerações P1, P2, F1 e F2, em nove cruzamentos entre genótipos tolerantes x sensíveis. Foi observado nas populações segregantes que a tolerância foi condicionada por um gene, de efeito dominante. A herdabilidade no sentido amplo foi moderada a elevada, permitindo que a seleção de indivíduos homozigotos tolerantes possa ser realizada em gerações precoces, acompanhada de teste de progênie. Por ser um método de relativa facilidade e rapidez, a seleção de germoplasma tolerante ao Al pode ser parte integrante da rotina dos programas de melhoramento de aveia.

Bases para una museografía didáctica en los museos de arte

El articulo analiza los déficits existentes hoy en la presentación y museización del arte. Los factores que conducen a esta situación son variados y van desde la ideología dominante en el campo del patrimonio hasta el desconocimiento de tecnologías museográficas avanzadas. En todo caso, los museos de arte son, con frecuencia, la excepción en el campo de la renovación museística.

Accuracy and predictability in use of AO three-dimensionally preformed titanium mesh plates for posttraumatic orbital reconstruction: a pilot study.

The aim of this study was to prospectively evaluate the accuracy and predictability of new three-dimensionally preformed AO titanium mesh plates for posttraumatic orbital wall reconstruction.We analyzed the preoperative and postoperative clinical and radiologic data of 10 patients with isolated blow-out orbital fractures. Fracture locations were as follows: floor (N = 7; 70%), medial wall (N = 1; 1%), and floor/medial wall (N = 2; 2%). The floor fractures were exposed by a standard transconjunctival approach, whereas a combined transcaruncular transconjunctival approach was used in patients with medial wall fractures. A three-dimensional preformed AO titanium mesh plate (0.4 mm in thickness) was selected according to the size of the defect previously measured on the preoperative computed tomographic (CT) scan examination and fixed at the inferior orbital rim with 1 or 2 screws. The accuracy of plate positioning of the reconstructed orbit was assessed on the postoperative CT scan. Coronal CT scan slices were used to measure bony orbital volume using OsiriX Medical Image software. Reconstructed versus uninjured orbital volume were statistically correlated.Nine patients (90%) had a successful treatment outcome without complications. One patient (10%) developed a mechanical limitation of upward gaze with a resulting handicapping diplopia requiring hardware removal. Postoperative orbital CT scan showed an anatomic three-dimensional placement of the orbital mesh plates in all of the patients. Volume data of the reconstructed orbit fitted that of the contralateral uninjured orbit with accuracy to within 2.5 cm(3). There was no significant difference in volume between the reconstructed and uninjured orbits.This preliminary study has demonstrated that three-dimensionally preformed AO titanium mesh plates for posttraumatic orbital wall reconstruction results in (1) a high rate of success with an acceptable rate of major clinical complications (10%) and (2) an anatomic restoration of the bony orbital contour and volume that closely approximates that of the contralateral uninjured orbit.

Ação gênica, heterose e depressão endogâmica de caracteres de produção em linhagens mutantes de algodoeiro herbáceo

Este trabalho teve por objetivo estimar parâmetros hereditários no algodoeiro herbáceo (Gossypium hirsutum L.) a partir de análise genética convencional envolvendo dois progenitores e as gerações F1, F2, RC1 e RC2. A ação gênica, a heterose e a depressão endogâmica foram calculadas em relação aos caracteres número de dias para a floração, número de capulhos, peso do capulho, produção de algodão em caroço, porcentagem de fibra, e peso de 100 sementes. Os valores de herdabilidade no sentido restrito variaram de 2,27%, em peso médio de capulho, a 67,57%, em porcentagem de fibra. A ação gênica de natureza dominante predominou em número de dias para a floração, número de capulhos, peso médio do capulho, produção de algodão em caroço e fibra. Os valores heteróticos calculados variaram de -0,77%, em número de dias para a floração, a 96,41%, na produção de fibra. Depressão endogâmica estatisticamente significativa foi obtida em peso médio de capulho e porcentagem de fibra. A presença de ação gênica aditiva sugere que avanços genéticos podem ser alcançados por meio dos métodos comuns de seleção, enquanto a predominância de ação dominante ou epistática indica a necessidade do uso de variedades híbridas ou outros métodos que aproveitem este tipo de variabilidade genética.

Genética da resistência à ferrugem-da-folha em aveia

A ferrugem-da-folha (Puccinia coronata f. sp. avenae) é a principal doença da cultura da aveia (Avena sativa L.), e o uso de cultivares resistentes é o método de controle mais importante. Este trabalho teve por objetivo determinar o controle genético da resistência à ferrugem-da-folha em aveia e identificar fontes de genes diferentes para resistência a esta doença. Foram utilizados três genótipos resistentes (UFRGS 15, UFRGS 881920 e UFRGS 86A1194-2), três genótipos suscetíveis (UFRGS 7, UFRGS 8 e UFRGS 14) e a geração segregante F3 proveniente dos cruzamentos entre estes genótipos. As plantas foram avaliadas individualmente quanto à presença ou ausência da ferrugem-da-folha, sendo os dados destas leituras utilizados numa análise genética em que a hipótese de um ou dois genes de resistência foi testada pelo qui-quadrado. Os resultados evidenciaram um gene dominante de resistência no genótipo UFRGS 881920 e dois genes complementares no genótipo UFRGS 15 quando estes foram cruzados com os suscetíveis. A análise genética feita não permitiu determinar se estes dois genótipos são ou não a mesma fonte genética de resistência.

Du sujet: réflexions autour de Claude Lefort

Confrontation de la conception lefortienne du sujet théorique et pratique, s'inspirant de la tradition herméneutique-interprétative, avec la conception moderne dominante du sujet, d'inspiration cartésienne. L'article déploie les écarts séparant ces deux conceptions sur les plans théorique et pratique à partir de l'oeuvre de pensée de Claude Lefort ; à partir de son Le travail de l'oeuvre. Machiavel, il se concentre tout particulièrement sur sa conception du sujet politique et souligne ce qui la sépare de celle du libéralisme.

Early diagenesis of bone and tooth apatite in fluvial and marine settings: Constraints from combined oxygen isotope, nitrogen and REE analysis

Fossil bones and teeth of Late Pleistocene terrestrial mammals from Rhine River gravels (RS) and the North Sea (NS), that have been exposed to chemically and isotopically distinct diagenetic fluids (fresh water versus seawater), were investigated to study the effects of early diagenesis on biogenic apatite. Changes in phosphate oxygen isotopic composition (delta O-18(PO4)), nitrogen content (wt.% N) and rare earth element (REE) concentrations were measured along profiles within bones that have not been completely fossilized, and in skeletal tissues (bone, dentine, enamel) with different susceptibilities to diagenetic alteration. Early diagenetic changes of elemental and isotopic compositions of apatite in fossil bone are related to the loss of the stabilizing collagen matrix. The REE concentration is negatively correlated with the nitrogen content, and therefore the amount of collagen provides a sensitive proxy for early diagenetic alteration. REE patterns of RS and NS bones indicate initial fossilization in a fresh water fluid with similar REE compositions. Bones from both settings have nearly collagen-free, REE-, U-, F- and Sr-enriched altered outer rims, while the collagen-bearing bone compacta in the central part often display early diagenetic pyrite void-fillings. However, NS bones exposed to Holocene seawater have outer rim delta O-18(PO4) values that are 1.1 to 2.6 parts per thousand higher compared to the central part of the same bones (delta O-18(PO4) = 18.2 +/- 0.9 parts per thousand, n = 19). Surprisingly, even the collagen-rich bone compacta with low REE contents and apatite crystallinity seems altered, as NS tooth enamel (delta O-18(PO4) =15.0 +/- 0.3 parts per thousand, n=4) has about 3%. lower delta O-18(PO4) values, values that are also similar to those of enamel from RS teeth. Therefore, REE concentration, N content and apatite crystallinity are in this case only poor proxies for the alteration of delta O-18(PO4) values. Seawater exposure of a few years up to 8 kyr can change the delta O-18(PO4) values of the bone apatite by > 3 parts per thousand. Therefore, bones fossilized in marine settings must be treated with caution for palaeoclimatic reconstructions. However, enamel seems to preserve pristine delta O-18(PO4) values on this time scale. Using species-specific calibrations for modern mammals, a mean delta O-18(H2O) value can be reconstructed for Late Pleistocene mammalian drinking water of around -9.2 +/- 0.5 parts per thousand, which is similar to that of Late Pleistocene groundwater from central Europe. (c) 2008 Elsevier B.V. All rights reserved.

Controle genético da resistência da soja à raça 4 de Cercospora sojina

O objetivo deste trabalho foi estudar o controle genético da resistência à Cercospora sojina, em populações segregantes derivadas do cruzamento entre as cultivares de soja Paraná e Bossier. Foram avaliadas nos genitores e nas gerações F1, F2, RC1 e RC2 seis características das plantas associadas com a doença: nota para infecção (NT); número de lesões por folíolo (NLF); diâmetro médio de lesão (DML); porcentagem de área foliar lesionada (PAFL); número de lesões por cm² (NLC) e índice de doença (ID). A resistência da soja à cercosporiose comportou-se como um caráter quantitativo, e o efeito gênico aditivo o mais importante. As influências sobre NT foram as seguintes: efeito aditivo (62,05%), efeito da dominância (7,68%) e as interações epistáticas aditiva x aditiva, aditiva x dominante e dominante x dominante (7,32%). O modelo aditivodominante foi suficiente para explicar as variações somente nos caracteres PAFL e NLC. A influência dos efeitos das interações epistáticas variaram de 2,22% no caráter PAFL e em até 30,78% no caráter DML. O modelo genético aditivo-dominante é satisfatório para explicar o comportamento da média das gerações em relação aos caracteres PAFL e NLC. Entretanto, quanto a NT, NLF, DML e ID, o modelo aditivo-dominante-epistático é o mais adequado.

Lyrisches Intermezzo = Intermezzo lyrique

"Ces traductions en vers rythmés et rimés de l'Intermezzo lyrique de Heine tiennent du tour de force, ou plutôt du défi relevé avec élégance. L'ambition de surmonter ce qui semble insurmontable n'est pas la raison principale du choix qu'a fait ici le traducteur : ce choix s'est imposé comme une nécessité. Ou pour reprendre sa formule qui n'est paradoxale qu'à une lecture superficielle : le vers rythmé et rimé était 'possible parce que nécessaire". Georges Starobinski

Efeito de Glomus etunicatum e fósforo no crescimento inicial de espécies arbóreas em semeadura direta

O objetivo deste trabalho foi avaliar os efeitos da disponibilidade de P no solo, da micorriza formada por Glomus etunicatum e de Mycoform, um estimulante desta última, no crescimento e competição inicial de seis espécies arbóreas semeadas diretamente. O trabalho foi realizado em casa de vegetação com as espécies Senna macranthera (fedegoso), Guazuma ulmifolia (mutamba), Senna multijuga (cássia-verrugosa), Solanum granuloso-leprosum (gravitinga), Schinus terebenthifolius (aroeira) e Trema micrantha (trema), em solo com níveis de P na solução considerados muito baixo, baixo e alto, com inoculação ou não do fungo micorrízico arbuscular G. etunicatum, além do tratamento G. etunicatum + Mycoform. O crescimento das mudas respondeu à inoculação em P muito baixo e baixo. As mudas apresentaram moderada dependência das micorrizas, não respondendo ao G. etunicatum em P alto. Gravitinga morreu em P muito baixo, mas foi dominante com P baixo e alto. Fedegoso foi dominante com P muito baixo, mostrando-se adaptado à baixa fertilidade. G. etunicatum influenciou a dominância das espécies, auxiliando as menos competitivas e gerando maior equilíbrio. Mycoform influenciou pouco o crescimento, nutrição e competição. O crescimento de espécies pioneiras semeadas diretamente é favorecido pela elevação do P e pelas micorrizas, as quais também favorecem o equilíbrio entre espécies.

Novel cell types, neurosecretory cells, and body plan of the early-diverging metazoan Trichoplax adhaerens.

BACKGROUND: Trichoplax adhaerens is the best-known member of the phylum Placozoa, one of the earliest-diverging metazoan phyla. It is a small disk-shaped animal that glides on surfaces in warm oceans to feed on algae. Prior anatomical studies of Trichoplax revealed that it has a simple three-layered organization with four somatic cell types. RESULTS: We reinvestigate the cellular organization of Trichoplax using advanced freezing and microscopy techniques to identify localize and count cells. Six somatic cell types are deployed in stereotyped positions. A thick ventral plate, comprising the majority of the cells, includes ciliated epithelial cells, newly identified lipophil cells packed with large lipid granules, and gland cells. Lipophils project deep into the interior, where they alternate with regularly spaced fiber cells whose branches contact all other cell types, including cells of the dorsal and ventral epithelium. Crystal cells, each containing a birefringent crystal, are arrayed around the rim. Gland cells express several proteins typical of neurosecretory cells, and a subset of them, around the rim, also expresses an FMRFamide-like neuropeptide. CONCLUSIONS: Structural analysis of Trichoplax with significantly improved techniques provides an advance in understanding its cell types and their distributions. We find two previously undetected cell types, lipohil and crystal cells, and an organized body plan in which different cell types are arranged in distinct patterns. The composition of gland cells suggests that they are neurosecretory cells and could control locomotor and feeding behavior.

Parâmetros genéticos da resistência da soja a Cercospora sojina

A herança da resistência da soja a Cercospora sojina Hara foi avaliada por meio de parâmetros genéticos, estimados pela análise de médias e de variâncias de um índice multivariado. Foram utilizados os cruzamentos de duas cultivares resistentes, Paraná (P) e Uberaba (U), com uma suscetível, Bossier (B). Foram avaliados cinco caracteres associados à doença, nos genitores e nas gerações F1, F2, RCR e RCS de cada cruzamento: nota do grau de infecção avaliado visualmente; diâmetro médio da lesão; porcentagem de área foliar lesionada; número de lesões por centímetro quadrado; e índice de doença. Foi aplicado aos dados das análises de gerações um índice multivariado anteriormente estabelecido. O efeito genético aditivo foi o mais importante na determinação dos caracteres relacionados com a resistência da soja a C. sojina. Nos dois cruzamentos, PxB e UxB, pelo menos um dos tipos de epistasia (aa, ad e dd) foi significativo, sendo mais adequada a avaliação da resistência da soja a C. sojina, pelo modelo aditivo-dominante-epistático.

Community structure in mediterranean shallow lentic ecosystems: size-based vs. taxon-based approaches

The main environmental variables determining the community structure and the functioning of Mediterranean shallow lentic ecosystems are described. These ecosystems are characterized by the unpredictability of their water inputs and the high variability in their water level and physical and chemical composition. Variations in flooding, salinity, and water turnover are determinant in species composition and nutrient dynamics. Taxon-based and size-based approaches to the study of the community structure of aquatic organisms that colonise these ecosystems are also compared. The conventional taxonomic approach, based on the determination of species composition, has been used for the identification of patterns in species richness, distribution and temporal dynamics, and for ecological requirements of species and their potential use as ecological indicators. This taxonbased approach has been compared with a size-based approach, where individuals are classified by their size. Size-based approach gives complementary information about community structure and dynamics, especially when communities are dominated by a single species. The use of size diversity combined with species diversity is suggested for a more complete understanding of community structuring in this type of ecosystem. Detailed examples of two Mediterranean shallow lentic ecosystems, the salt marshes of the Empordà wetlands and the Espolla temporary karstic pond, which differ in hydrology and water origin, are used to discuss the suitability of these different approaches

Are myotonic dystrophy and peripheral neuropathy associated? : morphological, morphometric and electrophysiological analysis in DM1 transgenic mice

Abstract: Myotonic dystrophy (DM1), also known as Steinert disease, is an inherited autosomal dominant disease. It is characterized by myotonia, muscular weakness and atrophy, but DM1 may have manifestations in other organs such as eyes, heart, gonads, gastrointestinal and respiratory tracts, as well as brain. In 1992, it was demonstrated that this complex disease results from the expansion of CTG repeats in the 3' untranslated region of the DM protein kinase (DMPK) gene on chromosome 19. The size of the inherited expansion is critically linked to the severity of the disease and the age of onset. Although several electrophysiological and histological studies have been carried out to verify the possible involvement of peripheral nerve abnormality with DM1, the results have not been univocal. Therefore, at present the possible association between peripheral neuropatliy and DM1 remains debated. Recently, transgenic mice have been generated, that carry the human genomic DM1 region with 300 CTG repeats, and display the human DMl phenotype. The generation of these DM1 transgenic mice provides a useful tool to investigate the type and incidence of structural abnormalities in the peripheral nervous system associated with DM1 disease. By using the DM1 transgenic mice, we investigated the presence/absence of the three major peripheral neuropathies: axonal degeneration, axonal demyelination and neuronopathy. The morphological and morphometric analysis of sciatic, sural and phrenic nerves demonstrated the absence of axonal degeneration or demyelination. The morphometric analysis also ruled out any loss in the numbers of sensory or motor neurons in lumbar dorsal root ganglia and lumbar spinal cord enlargement respectively. Moreover, the éxamination of serial hind limb muscle sections from DMl mice showed a normal intramuscular axonal arborization as well as the absence of changes in the number and structure of endplates. Finally, the electrophysiological tests performed in DM1 transgenic mice showed that the compound muscle axon potentials (CMAPs) elicited in the hind limb digits in response to a stimulation of the sciatic nerve with anear-nerve electrode were similar to thosé obtained in wild type mice. On the basis of all our results, we hypothesized that 300 CTG repeats are not sufficient to induce disorder in the peripheral nervous system of this DM1 transgenic mouse model. Résumé La dystrophie myotonique (DM1), connue aussi sous le nom de maladie de Steinert, est une maladie héréditaire autosornale dominante. Elle est caractérisée par une myotonie, une faiblesse et une atrophie musculaires, mais peut aussi se manifester dans d'autres organes tels que les yeux, les voies digestive et respiratoire, ou le cerveau. En 1992, il a été montré que cette maladie complexe résultait de l'expansion d'une répétition de CTG dans une partie non traduite en 3' du gène codant pour la protéine kinase DM (DMPK), sur le chromosome 19. La taille de l'expansion héritée est étroitement liée à la sévérité et l'âge d'apparition de DM1. Bien que plusieurs études électrophysiologiques et histologiques aient été menées, pour juger d'une implication possible d'anomalies au niveau du système nerveux périphérique dans la DM1, les résultats n'ont jusqu'ici pas été univoques. Aujourd'hui, la question d'une neuropathie associée avec la DM1 reste donc controversée. Des souris transgéniques ont été élaborées, qui portent la séquence DM1 du génome humain avec 300 répétitions CTG et expriment le phénotype des patients DM1: Ces souris transgéniques DMl procurent un outil précieux pour l'étude du type et de l'incidence d'éventuelles anomalies du système nerveux périphérique dans la DM1. En utilisant ces souris transgéniques DM1, nous avons étudié la présence ou l'absence des trois principaux types de neuropathies périphériques: la dégénération axonale, la démyélinisation axonale et la neuronopathie. Les études morphologiques et morphométrique des nerfs sciatiques, suraux et phréniques ont montré l'absence de dégénération axonale ou de démyélinisation. L'analyse du nombre de cellules neuronales n'a pas dévoilé de diminution des nombres de neurones sensitifs dans les ganglions des racines dorsales lombaires ou de neurones moteurs dans la moëlle épinière lombaire des souris transgéniques DMl. De plus, l'examen de coupes sériées de muscle des membres postérieurs de souris DM1 a montré une arborisation axonale intramusculaire normale, de même que l'absence d'irrégularité dans le nombre ou la structure des plaques motrices. Enfin, les tests électrophysiologiques effectués sur les souris DMl ont montré que les potentiels d'action de la composante musculaire (CMAPs) évoqués dans les doigts des membres postérieurs, en réponse à une stimulation du nerf sciatique à l'aide d'une électrode paranerveuse, étaient identiques à ceux observées chez les souris sauvages. Sur la base de l'ensemble de ces résultats, nous avons émis l'hypothèse que 300 répétitions CTG ne sont pas suffisantes pour induire d'altérations dans le système nerveux périphérique du modèle de souris transgéniques DM 1.