Literature DB >> 20503308

Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae.

Amaka Offiah1, Benjamin Alman, Alberto S Cornier, Philip F Giampietro, Olivier Tassy, Angie Wade, Peter D Turnpenny.   

Abstract

Existing nomenclature systems for describing and reporting congenital segmentation defects of the vertebrae (SDV) are confusing, inconsistently applied, and lack molecular genetic advances. Our aim was to develop and assess a new classification system for SDV. A multidisciplinary group of the International Consortium for Vertebral Anomalies and Scoliosis (ICVAS) developed a new classification system for SDV, and 5 members group (Group 1) independently classified 10 previously unseen cases using this system. Inter-observer reliability was assessed using kappa, which compares observed agreement with that expected by chance. Seven independent general radiologists unaffiliated with the ICVAS (Group 2) classified the same 10 cases (total, 70 scores) before and after the ICVAS system was explained. We demonstrated the following: Inter-observer reliability for Group 1 yielded a kappa value of 0.21 (95% confidence intervals (CI) 0.052, 0.366, P = 0.0046); A consensus diagnosis was established for the 10 cases. For Group 2, before the ICVAS system was explained, 1 of 70 scores (1.4%) agreed with the Group 1 consensus diagnoses; Group 2 offered 12 different diagnoses, but 38 of 70 (54.3%) responses were "Don't Know." After the ICVAS system was explained, 47 of 70 responses (67.1%; 95% CI 55.5, 77.0) agreed with the Group 1 consensus, an improvement of 65.7% (95% CI 52.5, 75.6, P < 0.00005), with no "Don't Know" responses. Group 2 average reporting times, before and after explanation of the ICVAS system, were 148 and 48 min, respectively. We conclude that the ICVAS radiological classification system was found to be reliable and applicable for 10 SDV phenotypes. (c) 2010 Wiley-Liss, Inc.

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Year:  2010        PMID: 20503308     DOI: 10.1002/ajmg.a.33361

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  10 in total

1.  Clinical, genetic and environmental factors associated with congenital vertebral malformations.

Authors:  P F Giampietro; C L Raggio; R D Blank; C McCarty; U Broeckel; M A Pickart
Journal:  Mol Syndromol       Date:  2013-02

Review 2.  The mouse notches up another success: understanding the causes of human vertebral malformation.

Authors:  Duncan B Sparrow; Gavin Chapman; Sally L Dunwoodie
Journal:  Mamm Genome       Date:  2011-06-11       Impact factor: 2.957

Review 3.  Vertebrate segmentation: from cyclic gene networks to scoliosis.

Authors:  Olivier Pourquié
Journal:  Cell       Date:  2011-05-27       Impact factor: 41.582

Review 4.  A comprehensive review of the diagnosis and management of congenital scoliosis.

Authors:  Charles E Mackel; Ajit Jada; Amer F Samdani; James H Stephen; James T Bennett; Ali A Baaj; Steven W Hwang
Journal:  Childs Nerv Syst       Date:  2018-08-04       Impact factor: 1.475

5.  Analysis of maternal risk factors associated with congenital vertebral malformations.

Authors:  Jennifer Hesemann; Emily Lauer; Stephen Ziska; Kenneth Noonan; Blaise Nemeth; Jessica Scott-Schwoerer; Catherine McCarty; Kristen Rasmussen; Jacob M Goldberg; Sarah Sund; Jens Eickhoff; Cathleen L Raggio; Philip F Giampietro
Journal:  Spine (Phila Pa 1976)       Date:  2013-03-01       Impact factor: 3.468

6.  Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat.

Authors:  Koichiro Abe; Nobuhiko Takamatsu; Kumiko Ishikawa; Toshiko Tsurumi; Sho Tanimoto; Yukina Sakurai; Thomas S Lisse; Thomas Lisse; Kenji Imai; Tadao Serikawa; Tomoji Mashimo
Journal:  PLoS One       Date:  2015-06-19       Impact factor: 3.240

Review 7.  The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.

Authors:  Yixin Chen; Zhenlei Liu; Jia Chen; Yuzhi Zuo; Sen Liu; Weisheng Chen; Gang Liu; Guixing Qiu; Philip F Giampietro; Nan Wu; Zhihong Wu
Journal:  J Med Genet       Date:  2016-04-15       Impact factor: 6.318

8.  The publication trends and hot spots of scoliosis research from 2009 to 2018: a 10-year bibliometric analysis.

Authors:  Lin Tao; Siming Zhou; Zhengbo Tao; Kaicheng Wen; Wacili Da; Yan Meng; Yue Zhu
Journal:  Ann Transl Med       Date:  2020-03

9.  Development of the Synarcual in the Elephant Sharks (Holocephali; Chondrichthyes): Implications for Vertebral Formation and Fusion.

Authors:  Zerina Johanson; Catherine Boisvert; Anton Maksimenko; Peter Currie; Kate Trinajstic
Journal:  PLoS One       Date:  2015-09-04       Impact factor: 3.240

Review 10.  Genetic aspects of congenital and idiopathic scoliosis.

Authors:  Philip F Giampietro
Journal:  Scientifica (Cairo)       Date:  2012-12-31
  10 in total

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