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Article: Pedigree analysis of lumbar developmental spinal stenosis: determination of potential inheritance patterns
Title | Pedigree analysis of lumbar developmental spinal stenosis: determination of potential inheritance patterns |
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Authors | |
Keywords | developmental spinal stenosis family lumbar pedigree |
Issue Date | 2021 |
Publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1554-527X |
Citation | Journal of Orthopaedic Research, 2021, v. 39 n. 8, p. 1763-1776 How to Cite? |
Abstract | Lumbar developmental spinal stenosis (DSS) refers to multilevel pre‐existing narrowed spinal canals, which predispose to neural compromise. The objective of this study is to identify any inheritance pattern of DSS by utilizing pedigree charts. This was a case series of 13 families with a total of 80 subjects having magnetic resonance imaging (MRI) from L1 to S1. Cases (subjects with DSS) or controls (subjects without DSS) were identified by measuring their anteroposterior (AP) vertebral canal diameters. Multilevel model analyses were also performed to evaluate whether there is substantial clustering of observations within the families, and the effect of multilevel DSS. The intraclass correlation coefficient (ICC) and Akaike information criteria (AIC) were compared between models. Correlations between subject demographics and AP vertebral canal diameter were statistically insignificant at all levels. Only vertebral canal cross‐sectional area, and axial and sagittal vertebral canal diameter were found to be statistically different between cases and controls at all levels (all p < .05). Both males and females were affected by DSS and there was no skipping of generation, which highly suggested DSS followed an autosomal dominant inheritance pattern. After accounting for multilevel DSS, there was a drop of more than 10 in AIC and some variances were also explained within families. This is the first study that suggests multilevel lumbar DSS to have an autosomal dominant inheritance pattern. Within families with a background of DSS, subjects had a smaller canal size, contributed by shortened axial and sagittal AP vertebral canal diameter, and smaller canal cross‐sectional area. |
Persistent Identifier | http://hdl.handle.net/10722/287250 |
ISSN | 2021 Impact Factor: 3.102 2020 SCImago Journal Rankings: 1.041 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Lai, MKL | - |
dc.contributor.author | Cheung, PWH | - |
dc.contributor.author | Song, YQ | - |
dc.contributor.author | Samartzis, D | - |
dc.contributor.author | Cheung, JPY | - |
dc.date.accessioned | 2020-09-22T02:58:07Z | - |
dc.date.available | 2020-09-22T02:58:07Z | - |
dc.date.issued | 2021 | - |
dc.identifier.citation | Journal of Orthopaedic Research, 2021, v. 39 n. 8, p. 1763-1776 | - |
dc.identifier.issn | 0736-0266 | - |
dc.identifier.uri | http://hdl.handle.net/10722/287250 | - |
dc.description.abstract | Lumbar developmental spinal stenosis (DSS) refers to multilevel pre‐existing narrowed spinal canals, which predispose to neural compromise. The objective of this study is to identify any inheritance pattern of DSS by utilizing pedigree charts. This was a case series of 13 families with a total of 80 subjects having magnetic resonance imaging (MRI) from L1 to S1. Cases (subjects with DSS) or controls (subjects without DSS) were identified by measuring their anteroposterior (AP) vertebral canal diameters. Multilevel model analyses were also performed to evaluate whether there is substantial clustering of observations within the families, and the effect of multilevel DSS. The intraclass correlation coefficient (ICC) and Akaike information criteria (AIC) were compared between models. Correlations between subject demographics and AP vertebral canal diameter were statistically insignificant at all levels. Only vertebral canal cross‐sectional area, and axial and sagittal vertebral canal diameter were found to be statistically different between cases and controls at all levels (all p < .05). Both males and females were affected by DSS and there was no skipping of generation, which highly suggested DSS followed an autosomal dominant inheritance pattern. After accounting for multilevel DSS, there was a drop of more than 10 in AIC and some variances were also explained within families. This is the first study that suggests multilevel lumbar DSS to have an autosomal dominant inheritance pattern. Within families with a background of DSS, subjects had a smaller canal size, contributed by shortened axial and sagittal AP vertebral canal diameter, and smaller canal cross‐sectional area. | - |
dc.language | eng | - |
dc.publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1554-527X | - |
dc.relation.ispartof | Journal of Orthopaedic Research | - |
dc.rights | This is the peer reviewed version of the following article: Journal of Orthopaedic Research, 2021, v. 39 n. 8, p. 1763-1776, which has been published in final form at https://doi.org/10.1002/jor.24850. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. | - |
dc.subject | developmental spinal stenosis | - |
dc.subject | family | - |
dc.subject | lumbar | - |
dc.subject | pedigree | - |
dc.title | Pedigree analysis of lumbar developmental spinal stenosis: determination of potential inheritance patterns | - |
dc.type | Article | - |
dc.identifier.email | Cheung, PWH: gnuehcp6@hku.hk | - |
dc.identifier.email | Song, YQ: songy@hku.hk | - |
dc.identifier.email | Cheung, JPY: cheungjp@hku.hk | - |
dc.identifier.authority | Song, YQ=rp00488 | - |
dc.identifier.authority | Cheung, JPY=rp01685 | - |
dc.description.nature | postprint | - |
dc.identifier.doi | 10.1002/jor.24850 | - |
dc.identifier.pmid | 32902878 | - |
dc.identifier.scopus | eid_2-s2.0-85090957954 | - |
dc.identifier.hkuros | 314578 | - |
dc.identifier.volume | 39 | - |
dc.identifier.issue | 8 | - |
dc.identifier.spage | 1763 | - |
dc.identifier.epage | 1776 | - |
dc.identifier.isi | WOS:000569483600001 | - |
dc.publisher.place | United States | - |
dc.identifier.issnl | 0736-0266 | - |