Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings

Autor: Alice Goldenberg, Gaël Nicolas, Maud Blanluet, Sandra Chantot-Bastaraud, Gabriella Vera, Boris Keren, Géraldine Joly-Helas, Thierry Frebourg, Didier Hannequin, Jean-Pierre Siffroi, Kévin Cassinari, Nathalie Le Meur, Bertrand Mace, Pascal Chambon

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2021, 185 (10), pp.3057-3061. ⟨10.1002/ajmg.a.62361⟩

Balanced translocations are associated with a risk of transmission of unbalanced chromosomal rearrangements in the offspring. Such inherited chromosomal abnormalities are typically non-mosaic as they are present in the germline. We report the recurre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66be680ae747c9e43272f96b0c00bcd1
https://doi.org/10.1002/ajmg.a.62361

A New Paradigm for the Management of Thoracolumbar Pediatric Spine Traumas

Autor: Romain Faguet, Ahmad Eid, Jacques Griffet, Baptiste Belvisi, E. Bourgeois, Aurélien Courvoisier

Publikováno v: Pediatric Emergency Care
Pediatric Emergency Care, Lippincott, Williams & Wilkins, 2017, 33 (8), pp.e10-e14. ⟨10.1097/PEC.0000000000000526⟩

OBJECTIVES The transient breath holding sign (TBHS) is a clinical sign often associated with magnetic resonance imaging (MRI) spine traumatic lesions. The aims of this study were to prospectively evaluate the TBHS in the detection of thoracolumbar le

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0452716c149663a0a5d0aefc4622382
https://doi.org/10.1097/pec.0000000000000526

Management of sub-axial cervical spine injuries

Autor: Gautam R Zaveri, Gurdip Das

Publikováno v: Indian Journal of Orthopaedics, Vol 51, Iss 6, Pp 633-652 (2017)
Indian Journal of Orthopaedics

Sub-axial cervical spine injuries are commonly seen in patients with blunt trauma. They may be associated with spinal cord injury resulting in tetraplegia and severe permanent disability. Immobilization of the neck, maintenance of blood pressure and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd2c6f3a7c7f32db1e017e1c29664f3f
http://www.ijoonline.com/article.asp?issn=0019-5413

Sagittal Atlantoaxial Joint Inclination and Reduction Index Values for Diagnosis and Treatment of Irreducible Atlantoaxial Dislocation

Autor: Shi-Long Yuan, Hong-Mei Xu, Lian-Chong Fu, Jin Cao, Jian-Kun Yang, Yong-Ming Xi

Publikováno v: Indian Journal of Orthopaedics
Indian Journal of Orthopaedics, Vol 52, Iss 2, Pp 190-195 (2018)

Background: Irreducible atlantoaxial dislocation (IAAD) is a disorder of atlantoaxial joint instability with various causes. The diagnostic criteria for IAAD are variable. The diagnosis of IAAD is mainly based on preoperative and intraoperative tract

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::394acb3bfd0a8c712a88f218057f9ee9
https://pubmed.ncbi.nlm.nih.gov/29576648

Possible modulation of the mouse respiratory rhythm generator by A1/C1 neurones

Autor: Jean-Charles Viemari, Sebastien Zanella, Jean-Christophe Roux, Gérard Hilaire

Publikováno v: Respiratory Physiology & Neurobiology
Respiratory Physiology & Neurobiology, 2006, 153 (2), pp.126-38. ⟨10.1016/j.resp.2005.09.009⟩
Respiratory Physiology and Neurobiology
Respiratory Physiology and Neurobiology, Elsevier, 2006, 153 (2), pp.126-38. ⟨10.1016/j.resp.2005.09.009⟩

Although compelling evidence exist that the respiratory rhythm generator is modulated by endogenous noradrenaline released from pontine A5 and A6 neurones, we examined whether medullary catecholaminergic neurones also participated in respiratory rhyt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b924a60221ffebfbacec805bff45eab
https://doi.org/10.1016/j.resp.2005.09.009