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  1. Article ; Online: Telescopic rodding in children: Technical progression from Dubow-Bailey to Fassier-Duval™.

    Fassier, Alice

    Orthopaedics & traumatology, surgery & research : OTSR

    2020  Volume 107, Issue 1S, Page(s) 102759

    Abstract: ... and improvement in internal fixation with the development of Dubow-Bailey then Fassier-Duval™ ... rod by the telescopic Fassier-Duval™ rod. The aim of the present study was to provide an update ...

    Abstract Medical and surgical treatment of osteogenesis imperfecta has undergone two revolutions that improved quality of life and functional capacity: reduced bone absorption with the use of bisphosphonates, and improvement in internal fixation with the development of Dubow-Bailey then Fassier-Duval™ telescopic rodding. Telescopic intramedullary rodding in osteogenesis imperfecta and in other pathologies (congenital non-union and other congenital bone disorders) progressed with the replacement of the Dubow-Bailey rod by the telescopic Fassier-Duval™ rod. The aim of the present study was to provide an update on a technique that requires the utmost rigor and is not free of complications. Pitfalls and tips-and-tricks are presented in the light of our own experience.
    MeSH term(s) Bone Diseases ; Child ; Fracture Fixation, Intramedullary ; Humans ; Internal Fixators ; Osteogenesis Imperfecta/diagnostic imaging ; Quality of Life
    Language English
    Publishing date 2020-12-11
    Publishing country France
    Document type Journal Article ; Review
    ISSN 1877-0568
    ISSN (online) 1877-0568
    DOI 10.1016/j.otsr.2020.102759
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

    Morel, Godelieve / Duhamel, Céline / Boussion, Simon / Frénois, Frédéric / Lesca, Gaetan / Chatron, Nicolas / Labalme, Audrey / Sanlaville, Damien / Edery, Patrick / Thevenon, Julien / Faivre, Laurence / Fassier, Alice / Prodhomme, Olivier / Escande, Fabienne / Manouvrier, Sylvie / Petit, Florence / Geneviève, David / Rossi, Massimiliano

    Human mutation

    2020  Volume 41, Issue 9, Page(s) 1499–1506

    Abstract: PITX1 is a homeobox transcription factor essential for hindlimb morphogenesis. Two PITX1-related human disorders have been reported to date: PITX1 ectopic expression causes Liebenberg syndrome, characterized by malformation of upper limbs showing a " ... ...

    Abstract PITX1 is a homeobox transcription factor essential for hindlimb morphogenesis. Two PITX1-related human disorders have been reported to date: PITX1 ectopic expression causes Liebenberg syndrome, characterized by malformation of upper limbs showing a "lower limb" appearance; PITX1 deletions or missense variation cause a syndromic picture including clubfoot, tibial hemimelia, and preaxial polydactyly. We report two novel PITX1 missense variants, altering PITX1 transactivation ability, in three individuals from two unrelated families showing a distinct recognizable autosomal dominant syndrome, including first branchial arch, pelvic, patellar, and male genital abnormalities. This syndrome shows striking similarities with the Pitx1-/- mouse model. A partial phenotypic overlap is also observed with Ischiocoxopodopatellar syndrome caused by TBX4 haploinsufficiency, and with the phenotypic spectrum caused by SOX9 anomalies, both genes being PITX1 downstream targets. Our study findings expand the spectrum of PITX1-related disorders and suggest a common pattern of developmental abnormalities in disorders of the PITX1-TBX4-SOX9 signaling pathway.
    MeSH term(s) Animals ; Bone Diseases, Developmental/genetics ; Child ; Child, Preschool ; Humans ; Infant, Newborn ; Male ; Mice, Knockout ; Mutation, Missense ; Paired Box Transcription Factors/genetics ; Transcriptional Activation
    Chemical Substances Paired Box Transcription Factors ; homeobox protein PITX1
    Language English
    Publishing date 2020-07-15
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.24070
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    Zs.A 3586: Show issues Location:
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  3. Article: Arthrogryposis multiplex congenita. Long-term follow-up from birth until skeletal maturity.

    Fassier, Alice / Wicart, Philippe / Dubousset, Jean / Seringe, Raphaël

    Journal of children's orthopaedics

    2009  Volume 3, Issue 5, Page(s) 383–390

    Abstract: Purpose: The aim of this retrospective long-term study was to review and present the effects of treatment for 11 children with arthrogryposis multiplex congenital, or amyoplasia, followed from birth until skeletal maturity.: Methods: We evaluated ... ...

    Abstract Purpose: The aim of this retrospective long-term study was to review and present the effects of treatment for 11 children with arthrogryposis multiplex congenital, or amyoplasia, followed from birth until skeletal maturity.
    Methods: We evaluated walking ability, age of beginning to walk, required ambulatory devices, age of independent walking and muscle strength.
    Results: Our series showed babies with severe limb involvements without spine abnormalities. Despite the initial severity of involvement, nine patients finally became ambulators with flexion contracture of less than 20 degrees on hips and 15 degrees on knees, and six were independent walkers before the age of 2.5 years. The two non-ambulators presented severe scoliosis at skeletal maturity, which needed spinal fusion.
    Conclusion: We conclude that long-term ambulatory status at skeletal maturity is not correlated with the severity of condition at birth. A prognosis for ambulation at skeletal maturity will be done before 2.5 years of age. We believe that early aggressive management of children with severe arthrogryposis is warranted and justified.
    Language English
    Publishing date 2009-08-11
    Publishing country England
    Document type Journal Article
    ZDB-ID 2279410-4
    ISSN 1863-2548 ; 1863-2521
    ISSN (online) 1863-2548
    ISSN 1863-2521
    DOI 10.1007/s11832-009-0187-4
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    Zs.A 6613: Show issues Location:
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  4. Article ; Online: Skeletal impairment in Pierson syndrome: Is there a role for lamininβ2 in bone physiology?

    Beaufils, Camille / Farlay, Delphine / Machuca-Gayet, Irma / Fassier, Alice / Zenker, Martin / Freychet, Caroline / Bonnelye, Edith / Bertholet-Thomas, Aurélia / Ranchin, Bruno / Bacchetta, Justine

    Bone

    2018  Volume 106, Page(s) 187–193

    Abstract: Introduction: Pierson syndrome is caused by a mutation of LAMB2, encoding for laminin β2. Clinical phenotype is variable but usually associates congenital nephrotic syndrome (CNS) and ocular abnormalities. Neuromuscular impairment has also been ... ...

    Abstract Introduction: Pierson syndrome is caused by a mutation of LAMB2, encoding for laminin β2. Clinical phenotype is variable but usually associates congenital nephrotic syndrome (CNS) and ocular abnormalities. Neuromuscular impairment has also been described.
    Methods: We report on a 15-year old girl, suffering from Pierson Syndrome, who developed severe bone deformations during puberty. This patient initially displayed CNS and microcoria, leading to the clinical diagnosis of Pierson syndrome. Genetic analysis revealed a truncating mutation and a splice site mutation of LAMB2. The patient received a renal transplantation (R-Tx) at the age of 3. After R-Tx, renal evolution was simple, the patient receiving low-dose corticosteroids, tacrolimus and mycophenolate mofetil. At the age of 12, bone deformations progressively appeared. At the time of bone impairment, renal function was subnormal (glomerular filtration rate using iohexol clearance 50mL/min per 1.73m
    Conclusion: This is the first case of skeletal impairment ever described in Pierson syndrome. Integrin α3β1, receptor for laminin β2, are found in podocytes and osteoblasts, and the observation of both the presence of laminin β2 staining in healthy bone and its absence in the patient's bone raises the question of a potential role of laminin β2 in bone physiology.
    MeSH term(s) Abnormalities, Multiple/genetics ; Abnormalities, Multiple/metabolism ; Abnormalities, Multiple/physiopathology ; Adolescent ; Eye Abnormalities/genetics ; Eye Abnormalities/metabolism ; Eye Abnormalities/physiopathology ; Female ; Humans ; Laminin/genetics ; Laminin/metabolism ; Mutation ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/metabolism ; Nephrotic Syndrome/physiopathology ; Neuromuscular Diseases/genetics ; Neuromuscular Diseases/metabolism ; Neuromuscular Diseases/physiopathology ; Pupil Disorders/genetics ; Pupil Disorders/metabolism ; Pupil Disorders/physiopathology
    Chemical Substances Laminin ; laminin beta2 (124148-86-3)
    Language English
    Publishing date 2018-01
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 632515-4
    ISSN 1873-2763 ; 8756-3282
    ISSN (online) 1873-2763
    ISSN 8756-3282
    DOI 10.1016/j.bone.2017.10.015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1571: Show issues Location:
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    Zs.MO 332: Show issues

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  5. Article ; Online: Radial head dislocation and subluxation in osteogenesis imperfecta.

    Fassier, Alice Marcdargent / Rauch, Frank / Aarabi, Mehdi / Janelle, Chantal / Fassier, François

    The Journal of bone and joint surgery. American volume

    2007  Volume 89, Issue 12, Page(s) 2694–2704

    Abstract: Background: Upper limb deformity in children with osteogenesis imperfecta may substantially impair function. The aims of this retrospective work were to study the prevalence of radial head malalignment (dislocation or subluxation) in different types of ... ...

    Abstract Background: Upper limb deformity in children with osteogenesis imperfecta may substantially impair function. The aims of this retrospective work were to study the prevalence of radial head malalignment (dislocation or subluxation) in different types of osteogenesis imperfecta and to identify factors linked to it.
    Methods: We assessed 489 upper limbs from 254 patients (with a mean age of 9.6 years and including 130 female patients) who had various types of osteogenesis imperfecta. Radiographs representing a single time-point for each patient were assessed for the presence and direction of radial head malalignment and associated abnormalities (dysplasia of the capitellum or of the radial head or neck, calcification of the interosseous membrane, or radioulnar synostosis). Deformations of the humerus, radius, and ulna were assessed with regard to location, direction, and magnitude. The forearm range of motion in pronation and supination and the hand grip force were measured in a subset of patients.
    Results: We observed radial head dislocation or subluxation in forty-four and thirty-nine upper extremities, respectively. The frequency of radial head malalignment was significantly higher in type-V osteogenesis imperfecta (86%) than in the other types (0% to 29%) (p < 0.001). Dysplasia of the humeral capitellum, radial head, or radial neck was associated with malalignment in all types of osteogenesis imperfecta, with the exception of capitellum dysplasia in type V. Malalignment in type V was associated with calcification of the interosseous membrane, an abnormality that was specific for type V. In the other osteogenesis imperfecta types, malalignment was commonly linked with radial and ulnar deformation and was associated with decreased forearm range of motion in supination and pronation and a lower grip force.
    Conclusions: Radial head malalignment is common in osteogenesis imperfecta, especially in type V. Malalignment is associated with bowing characteristics and impaired function of the upper limb. These findings may provide support for surgical correction of radial and ulnar bowing in selected patients with osteogenesis imperfecta.
    MeSH term(s) Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Joint Dislocations/diagnostic imaging ; Joint Dislocations/epidemiology ; Joint Dislocations/pathology ; Male ; Osteogenesis Imperfecta/complications ; Osteogenesis Imperfecta/diagnostic imaging ; Osteogenesis Imperfecta/pathology ; Prevalence ; Radiography ; Radius/diagnostic imaging ; Radius/pathology ; Retrospective Studies
    Language English
    Publishing date 2007-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 220625-0
    ISSN 1535-1386 ; 0021-9355
    ISSN (online) 1535-1386
    ISSN 0021-9355
    DOI 10.2106/JBJS.F.01287
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    Uk I Zs.58/1: Show issues Location:
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    Zs.MO 464: Show issues

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  6. Article ; Online: Gestion de la reproduction en élevages ovins et caprins, conventionnels et biologiques

    Freret, Sandrine / Le Danvic, Chrystelle / Lurette, Amandine / Chanvallon, Audrey / Experton, Catherine / Frappat, Brigitte / Gatien, Julie / Fatet, Alice / Boissard, Karine / Dewez, Julie / Johnson, Lisa / Debus, Nathalie / Maton, Céline / Bocquier, François / Santo, D. / Nagnan-Le Meillour, Patricia / Fassier, Thierry / Bouvier, Frédéric / Sagot, Laurence /
    D., Gautier / Pellicer-Rubio, Maria-Teresa

    état des lieux, nouveaux outils et évaluation de leur acceptabilité (REPROBIO)

    2018  

    Abstract: La maîtrise de la saisonnalité de la reproduction est un enjeu pour les filières ovines et caprines. Denouvelles approches pour induire et synchroniser les chaleurs et les ovulations hors saison sexuelle enalternative à l’utilisation d’hormones ou ... ...

    Abstract La maîtrise de la saisonnalité de la reproduction est un enjeu pour les filières ovines et caprines. Denouvelles approches pour induire et synchroniser les chaleurs et les ovulations hors saison sexuelle enalternative à l’utilisation d’hormones ou faisant appel à l’élevage de précision sont développées, tantpour l’agriculture conventionnelle (AC) que pour agriculture biologique (AB).Dans le projet REPROBIO, à partir d’enquêtes réalisées auprès d’intervenants en élevage et d’éleveursovins et caprins en AB et en AC, nous avons dressé un état des lieux des pratiques de gestion de lareproduction mises en œuvre dans les principaux bassins de production en France. Puis nous avonsévalué l’acceptabilité par les acteurs de terrain de deux outils innovants associés à la gestion de lareproduction et développés dans le cadre des travaux de R&D du projet : i) l’utilisation de phéromonesimpliquées dans l’effet mâle (comme alternative aux traitements hormonaux pour l’induction et lasynchronisation des ovulations et des chaleurs) et ii) la détection automatisée des chaleurs, pouroptimiser la mise à la reproduction par insémination artificielle (IA) ou pour la lutte en main (détecteurélectronique de chevauchements (Alpha-D®) chez la brebis et colliers-accéléromètres (Heatime®) chezla chèvre).
    Keywords "Organics" in general
    Publisher INRAE
    Publishing country dk
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: TRANSFERÊNCIA DE EMBRIÕES COMO FERRAMENTA PARA FORMAÇÃO DE REBANHO EXPERIMENTAL OVINO

    Huber Rizzo / Dominique François / Thierry Fassier / Edouard Guitton / Gérard Baril / Juliette Cognié / Alice Fatet / Florence Guignot / Pascal Mermillod / Jean Paul Petit / Jean François Beckers / Benoît Remy / Gilles Foucras Foucras / Gilles Meyer

    Ciência Animal Brasileira, Vol 1, Iss 0, Pp 814-

    2009  Volume 820

    Keywords Buiatria ; Agriculture ; S ; Animal culture ; SF1-1100
    Language English
    Publishing date 2009-10-01T00:00:00Z
    Publisher Universidade Federal de Goiás
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  8. Article ; Online: TRANSFERÊNCIA DE EMBRIÕES COMO FERRAMENTA PARA FORMAÇÃO DE REBANHO EXPERIMENTAL OVINO

    Huber Rizzo / Dominique François / Thierry Fassier / Edouard Guitton / Gérard Baril / Juliette Cognié / Alice Fatet / Florence Guignot / Pascal Mermillod / Jean Paul Petit / Jean François Beckers / Benoît Remy / Gilles Foucras Foucras / Gilles Meyer

    Ciência Animal Brasileira, Vol

    2009  Volume 1

    Keywords Buiatria ; Agriculture ; S ; Animal culture ; SF1-1100
    Language English
    Publishing date 2009-10-01T00:00:00Z
    Publisher Universidade Federal de Goiás
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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