Prevalence of scoliosis and impaired pulmonary function in patients with type III osteogenesis imperfecta
Purpose Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is type III OI. Characterized by progressive bone deformity, fragility and pulmonary impairment, causing significant morbidity and mortality. A...
Gespeichert in:
| Veröffentlicht in: | European spine journal Jg. 31; H. 9; S. 2295 - 2300 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Journal Article |
| Sprache: | Englisch |
| Veröffentlicht: |
Berlin/Heidelberg
Springer Berlin Heidelberg
01.09.2022
Springer Nature B.V |
| Schlagworte: | |
| ISSN: | 0940-6719, 1432-0932, 1432-0932 |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| Abstract | Purpose
Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is type III OI. Characterized by progressive bone deformity, fragility and pulmonary impairment, causing significant morbidity and mortality. Also, multilevel spine deformities are observed, such as scoliosis. The literature on the pathophysiology of pulmonary impairment in relation to scoliosis in these patients is scarce and conflicting. This study aims to determine the prevalence of scoliosis and its relation to pulmonary function in type III OI patients.
Methods
This retrospective cohort study took place between April 2020 and November 2021. Forty-two patients with type III OI were included. Anterior–posterior spine radiographs were evaluated for scoliosis. Pulmonary function was assessed using spirometry and partial pressure of carbon dioxide.
Results
All 42 patients had scoliosis, with a mean curve of 66° (95% CI of range). Vital lung capacity was decreased, compared to a non-OI population (mean 1.57 L). This was correlated to the degree of scoliosis (st. β − 0.40,
P
= 0.03), especially in increasing thoracic curves. Restrictive lung pathophysiology was shown in our study population with a mean FEV1/FVC ratio of 0.85.
Conclusions
Increasing thoracic scoliosis was correlated with decreased vital lung capacity in our study population of type III OI patients. High FEV1/FVC ratios found in this study population show restrictive lung pathophysiology. Therefore, it is plausible that the pulmonary impairment found in type III OI patients is a combined issue, partly associated to scoliosis and partly intrinsic to OI. |
|---|---|
| AbstractList | Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is type III OI. Characterized by progressive bone deformity, fragility and pulmonary impairment, causing significant morbidity and mortality. Also, multilevel spine deformities are observed, such as scoliosis. The literature on the pathophysiology of pulmonary impairment in relation to scoliosis in these patients is scarce and conflicting. This study aims to determine the prevalence of scoliosis and its relation to pulmonary function in type III OI patients.
This retrospective cohort study took place between April 2020 and November 2021. Forty-two patients with type III OI were included. Anterior-posterior spine radiographs were evaluated for scoliosis. Pulmonary function was assessed using spirometry and partial pressure of carbon dioxide.
All 42 patients had scoliosis, with a mean curve of 66° (95% CI of range). Vital lung capacity was decreased, compared to a non-OI population (mean 1.57 L). This was correlated to the degree of scoliosis (st. β - 0.40, P = 0.03), especially in increasing thoracic curves. Restrictive lung pathophysiology was shown in our study population with a mean FEV1/FVC ratio of 0.85.
Increasing thoracic scoliosis was correlated with decreased vital lung capacity in our study population of type III OI patients. High FEV1/FVC ratios found in this study population show restrictive lung pathophysiology. Therefore, it is plausible that the pulmonary impairment found in type III OI patients is a combined issue, partly associated to scoliosis and partly intrinsic to OI. Purpose Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is type III OI. Characterized by progressive bone deformity, fragility and pulmonary impairment, causing significant morbidity and mortality. Also, multilevel spine deformities are observed, such as scoliosis. The literature on the pathophysiology of pulmonary impairment in relation to scoliosis in these patients is scarce and conflicting. This study aims to determine the prevalence of scoliosis and its relation to pulmonary function in type III OI patients. Methods This retrospective cohort study took place between April 2020 and November 2021. Forty-two patients with type III OI were included. Anterior–posterior spine radiographs were evaluated for scoliosis. Pulmonary function was assessed using spirometry and partial pressure of carbon dioxide. Results All 42 patients had scoliosis, with a mean curve of 66° (95% CI of range). Vital lung capacity was decreased, compared to a non-OI population (mean 1.57 L). This was correlated to the degree of scoliosis (st. β − 0.40, P = 0.03), especially in increasing thoracic curves. Restrictive lung pathophysiology was shown in our study population with a mean FEV1/FVC ratio of 0.85. Conclusions Increasing thoracic scoliosis was correlated with decreased vital lung capacity in our study population of type III OI patients. High FEV1/FVC ratios found in this study population show restrictive lung pathophysiology. Therefore, it is plausible that the pulmonary impairment found in type III OI patients is a combined issue, partly associated to scoliosis and partly intrinsic to OI. PurposeOsteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is type III OI. Characterized by progressive bone deformity, fragility and pulmonary impairment, causing significant morbidity and mortality. Also, multilevel spine deformities are observed, such as scoliosis. The literature on the pathophysiology of pulmonary impairment in relation to scoliosis in these patients is scarce and conflicting. This study aims to determine the prevalence of scoliosis and its relation to pulmonary function in type III OI patients.MethodsThis retrospective cohort study took place between April 2020 and November 2021. Forty-two patients with type III OI were included. Anterior–posterior spine radiographs were evaluated for scoliosis. Pulmonary function was assessed using spirometry and partial pressure of carbon dioxide.ResultsAll 42 patients had scoliosis, with a mean curve of 66° (95% CI of range). Vital lung capacity was decreased, compared to a non-OI population (mean 1.57 L). This was correlated to the degree of scoliosis (st. β − 0.40, P = 0.03), especially in increasing thoracic curves. Restrictive lung pathophysiology was shown in our study population with a mean FEV1/FVC ratio of 0.85.ConclusionsIncreasing thoracic scoliosis was correlated with decreased vital lung capacity in our study population of type III OI patients. High FEV1/FVC ratios found in this study population show restrictive lung pathophysiology. Therefore, it is plausible that the pulmonary impairment found in type III OI patients is a combined issue, partly associated to scoliosis and partly intrinsic to OI. Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is type III OI. Characterized by progressive bone deformity, fragility and pulmonary impairment, causing significant morbidity and mortality. Also, multilevel spine deformities are observed, such as scoliosis. The literature on the pathophysiology of pulmonary impairment in relation to scoliosis in these patients is scarce and conflicting. This study aims to determine the prevalence of scoliosis and its relation to pulmonary function in type III OI patients.PURPOSEOsteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is type III OI. Characterized by progressive bone deformity, fragility and pulmonary impairment, causing significant morbidity and mortality. Also, multilevel spine deformities are observed, such as scoliosis. The literature on the pathophysiology of pulmonary impairment in relation to scoliosis in these patients is scarce and conflicting. This study aims to determine the prevalence of scoliosis and its relation to pulmonary function in type III OI patients.This retrospective cohort study took place between April 2020 and November 2021. Forty-two patients with type III OI were included. Anterior-posterior spine radiographs were evaluated for scoliosis. Pulmonary function was assessed using spirometry and partial pressure of carbon dioxide.METHODSThis retrospective cohort study took place between April 2020 and November 2021. Forty-two patients with type III OI were included. Anterior-posterior spine radiographs were evaluated for scoliosis. Pulmonary function was assessed using spirometry and partial pressure of carbon dioxide.All 42 patients had scoliosis, with a mean curve of 66° (95% CI of range). Vital lung capacity was decreased, compared to a non-OI population (mean 1.57 L). This was correlated to the degree of scoliosis (st. β - 0.40, P = 0.03), especially in increasing thoracic curves. Restrictive lung pathophysiology was shown in our study population with a mean FEV1/FVC ratio of 0.85.RESULTSAll 42 patients had scoliosis, with a mean curve of 66° (95% CI of range). Vital lung capacity was decreased, compared to a non-OI population (mean 1.57 L). This was correlated to the degree of scoliosis (st. β - 0.40, P = 0.03), especially in increasing thoracic curves. Restrictive lung pathophysiology was shown in our study population with a mean FEV1/FVC ratio of 0.85.Increasing thoracic scoliosis was correlated with decreased vital lung capacity in our study population of type III OI patients. High FEV1/FVC ratios found in this study population show restrictive lung pathophysiology. Therefore, it is plausible that the pulmonary impairment found in type III OI patients is a combined issue, partly associated to scoliosis and partly intrinsic to OI.CONCLUSIONSIncreasing thoracic scoliosis was correlated with decreased vital lung capacity in our study population of type III OI patients. High FEV1/FVC ratios found in this study population show restrictive lung pathophysiology. Therefore, it is plausible that the pulmonary impairment found in type III OI patients is a combined issue, partly associated to scoliosis and partly intrinsic to OI. |
| Author | Leeuwerke, S. J. G. Franken, A. A. M. Keuning, M. C. Harsevoort, A. G. J. van Dijk, P. R. Grotjohan, H. P. Janus, G. J. M. |
| Author_xml | – sequence: 1 givenname: M. C. orcidid: 0000-0002-3203-7874 surname: Keuning fullname: Keuning, M. C. email: m.c.keuning@umcg.nl organization: Department of Orthopaedic Surgery, University Medical Center, University of Groningen – sequence: 2 givenname: S. J. G. surname: Leeuwerke fullname: Leeuwerke, S. J. G. organization: Department of Surgery, University Medical Center, University of Groningen – sequence: 3 givenname: P. R. surname: van Dijk fullname: van Dijk, P. R. organization: Department of Endocrinology, University Medical Center, University of Groningen – sequence: 4 givenname: A. G. J. surname: Harsevoort fullname: Harsevoort, A. G. J. organization: Department of Orthopaedic Surgery, Isala – sequence: 5 givenname: H. P. surname: Grotjohan fullname: Grotjohan, H. P. organization: Department of Pulmonary Medicine, Isala – sequence: 6 givenname: A. A. M. surname: Franken fullname: Franken, A. A. M. organization: Department of Internal Medicine, Isala – sequence: 7 givenname: G. J. M. surname: Janus fullname: Janus, G. J. M. organization: Department of Orthopaedic Surgery, Isala |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/35604455$$D View this record in MEDLINE/PubMed |
| BookMark | eNpdkcFKHTEUhkNR6tX2BboogW7cTD1JJplkKaL2glAX7TrkZs7YyEwyTjIV397otRRcHQ7n4-Pw_8fkIKaIhHxh8J0BdGcZQGrVAOcNdFxBIz-QDWtFXY3gB2QDpoVGdcwckeOc7wGYNKA-kiMhFbStlBsSbhf860aMHmkaaPZpDCmHTF3saZhmFxbs6byOU4pueaLDGn0JKdIQ6exKwFgyfQzlDy1PM9LtdktTLpjuMOKLpipwGdAX94kcDm7M-PltnpDfV5e_Ln40Nz-vtxfnN80seFeaQTonBfIdOOl1rzQaNvh2Z3puWqZ6KcCDckYP6HTP9CAAet1p1nlnGN-JE3K6985LelgxFzuF7HEcXcS0ZsuV0pzz6qrot3fofVqXWL-zvAMNumVaVOrrG7XuJuztvISpRmH_hVgBsQdyPcU7XP5rGNiXquy-Klursq9VWSmeAeJohrI |
| ContentType | Journal Article |
| Copyright | The Author(s) 2022 2022. The Author(s). The Author(s) 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. |
| Copyright_xml | – notice: The Author(s) 2022 – notice: 2022. The Author(s). – notice: The Author(s) 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. |
| DBID | C6C NPM 3V. 7QP 7X7 7XB 88E 8AO 8FI 8FJ 8FK ABUWG AFKRA BENPR CCPQU FYUFA GHDGH K9. M0S M1P PHGZM PHGZT PJZUB PKEHL PPXIY PQEST PQQKQ PQUKI PRINS 7X8 |
| DOI | 10.1007/s00586-022-07260-5 |
| DatabaseName | Springer Nature OA Free Journals PubMed ProQuest Central (Corporate) Calcium & Calcified Tissue Abstracts Health & Medical Collection ProQuest Central (purchase pre-March 2016) Medical Database (Alumni Edition) ProQuest Pharma Collection ProQuest Hospital Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central (Alumni) ProQuest Central UK/Ireland ProQuest Central ProQuest One Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Health & Medical Complete (Alumni) ProQuest Health & Medical Collection Medical Database Proquest Central Premium ProQuest One Academic (New) ProQuest Health & Medical Research Collection ProQuest One Academic Middle East (New) ProQuest One Health & Nursing ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Academic (retired) ProQuest One Academic UKI Edition ProQuest Central China MEDLINE - Academic |
| DatabaseTitle | PubMed ProQuest One Academic Middle East (New) ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) ProQuest One Community College ProQuest One Health & Nursing ProQuest Pharma Collection ProQuest Central China ProQuest Central ProQuest Health & Medical Research Collection Health Research Premium Collection Health and Medicine Complete (Alumni Edition) Health & Medical Research Collection ProQuest Central (New) ProQuest Medical Library (Alumni) ProQuest One Academic Eastern Edition ProQuest Hospital Collection Health Research Premium Collection (Alumni) ProQuest Hospital Collection (Alumni) ProQuest Health & Medical Complete ProQuest Medical Library ProQuest One Academic UKI Edition ProQuest One Academic Calcium & Calcified Tissue Abstracts ProQuest One Academic (New) ProQuest Central (Alumni) MEDLINE - Academic |
| DatabaseTitleList | PubMed ProQuest One Academic Middle East (New) MEDLINE - Academic |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: BENPR name: ProQuest Central url: https://www.proquest.com/central sourceTypes: Aggregation Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 1432-0932 |
| EndPage | 2300 |
| ExternalDocumentID | 35604455 10_1007_s00586_022_07260_5 |
| Genre | Journal Article |
| GroupedDBID | --- -53 -5E -5G -BR -EM -Y2 -~C .86 .VR 06C 06D 0R~ 0VY 1N0 1SB 2.D 203 28- 29G 29~ 2J2 2JN 2JY 2KG 2KM 2LR 2P1 2VQ 2WC 2~H 30V 36B 3V. 4.4 406 408 409 40D 40E 53G 5GY 5QI 5VS 67Z 6NX 6PF 7X7 88E 8AO 8FI 8FJ 8TC 8UJ 95- 95. 95~ 96X AAAVM AABHQ AACDK AAHNG AAIAL AAJBT AAJKR AANXM AANZL AARHV AARTL AASML AATNV AATVU AAUYE AAWCG AAWTL AAYIU AAYQN AAYTO AAYZH ABAKF ABBBX ABBXA ABDZT ABECU ABFTV ABHLI ABHQN ABIPD ABJNI ABJOX ABKCH ABKTR ABMNI ABMQK ABNWP ABPLI ABQBU ABQSL ABSXP ABTEG ABTKH ABTMW ABULA ABUWG ABUWZ ABWNU ABXPI ACAOD ACBXY ACDTI ACGFS ACHSB ACHVE ACHXU ACKNC ACMDZ ACMLO ACOKC ACOMO ACPIV ACPRK ACSNA ACUDM ACZOJ ADBBV ADHHG ADHIR ADIMF ADINQ ADJJI ADKNI ADKPE ADRFC ADTPH ADURQ ADYFF ADZKW AEBTG AEFIE AEFQL AEGAL AEGNC AEJHL AEJRE AEKMD AEMSY AENEX AEOHA AEPYU AESKC AETLH AEVLU AEXYK AFBBN AFEXP AFKRA AFLOW AFQWF AFWTZ AFZKB AGAYW AGDGC AGGDS AGJBK AGMZJ AGQEE AGQMX AGRTI AGWIL AGWZB AGYKE AHAVH AHBYD AHIZS AHKAY AHMBA AHSBF AHYZX AIAKS AIGIU AIIXL AILAN AITGF AJBLW AJRNO AJZVZ AKMHD ALIPV ALMA_UNASSIGNED_HOLDINGS ALWAN AMKLP AMXSW AMYLF AMYQR AOCGG AOIJS ARMRJ ASPBG AVWKF AXYYD AZFZN B-. BA0 BAWUL BBWZM BDATZ BENPR BGNMA BPHCQ BSONS BVXVI C6C CAG CCPQU COF CS3 CSCUP DDRTE DIK DL5 DNIVK DPUIP DU5 E3Z EBD EBLON EBS EIOEI EJD EMB EMOBN EN4 ESBYG F5P FEDTE FERAY FFXSO FIGPU FINBP FNLPD FRRFC FSGXE FWDCC FYUFA G-Y G-Z GGCAI GGRSB GJIRD GNWQR GQ6 GQ7 GQ8 GRRUI GX1 GXS H13 HF~ HG5 HG6 HMCUK HMJXF HQYDN HRMNR HVGLF HYE HZ~ I09 IHE IJ- IKXTQ IMOTQ ITM IWAJR IXC IZIGR IZQ I~X I~Z J-C J0Z JBSCW JCJTX JZLTJ KDC KOV KOW KPH LAS LLZTM M1P M4Y MA- N2Q N9A NB0 NDZJH NPVJJ NQJWS NU0 O9- O93 O9G O9I O9J OAM OK1 P19 P2P P9S PF0 PQQKQ PROAC PSQYO PT4 PT5 Q2X QOK QOR QOS R4E R89 R9I RHV RIG RNI ROL RPM RPX RRX RSV RZK S16 S1Z S26 S27 S28 S37 S3B SAP SCLPG SDE SDH SDM SHX SISQX SJYHP SMD SNE SNPRN SNX SOHCF SOJ SPISZ SRMVM SSLCW SSXJD STPWE SV3 SZ9 SZN T13 T16 TR2 TSG TSK TSV TT1 TUC U2A U9L UG4 UKHRP UOJIU UTJUX UZXMN VC2 VFIZW W23 W48 WJK WK8 YLTOR Z45 Z7U Z7X Z82 Z83 Z87 Z8O Z8V Z8W Z91 Z92 ZMTXR ZOVNA ~EX AAPKM ABBRH ABDBE ABFSG ABRTQ ACSTC AEZWR AFDZB AFHIU AFOHR AHPBZ AHWEU AIXLP ATHPR AYFIA NPM 7QP 7XB 8FK K9. PHGZM PHGZT PJZUB PKEHL PPXIY PQEST PQUKI PRINS 7X8 PUEGO |
| ID | FETCH-LOGICAL-p327t-f5aa53e2b0a5c8d68e91fc4b9d29416d530c06a98fea8d18f300d87817ca912b3 |
| IEDL.DBID | BENPR |
| ISICitedReferencesCount | 9 |
| ISICitedReferencesURI | http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=000800970600002&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| ISSN | 0940-6719 1432-0932 |
| IngestDate | Sun Aug 24 04:14:35 EDT 2025 Tue Dec 02 16:49:12 EST 2025 Mon Jul 21 05:55:58 EDT 2025 Fri Feb 21 02:44:58 EST 2025 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 9 |
| Keywords | Pulmonary function Osteogenesis imperfecta Scoliosis |
| Language | English |
| License | 2022. The Author(s). |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-p327t-f5aa53e2b0a5c8d68e91fc4b9d29416d530c06a98fea8d18f300d87817ca912b3 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 |
| ORCID | 0000-0002-3203-7874 |
| OpenAccessLink | https://link.springer.com/10.1007/s00586-022-07260-5 |
| PMID | 35604455 |
| PQID | 2708084183 |
| PQPubID | 31317 |
| PageCount | 6 |
| ParticipantIDs | proquest_miscellaneous_2668222416 proquest_journals_2708084183 pubmed_primary_35604455 springer_journals_10_1007_s00586_022_07260_5 |
| PublicationCentury | 2000 |
| PublicationDate | 2022-09-01 |
| PublicationDateYYYYMMDD | 2022-09-01 |
| PublicationDate_xml | – month: 09 year: 2022 text: 2022-09-01 day: 01 |
| PublicationDecade | 2020 |
| PublicationPlace | Berlin/Heidelberg |
| PublicationPlace_xml | – name: Berlin/Heidelberg – name: Germany – name: Heidelberg |
| PublicationTitle | European spine journal |
| PublicationTitleAbbrev | Eur Spine J |
| PublicationTitleAlternate | Eur Spine J |
| PublicationYear | 2022 |
| Publisher | Springer Berlin Heidelberg Springer Nature B.V |
| Publisher_xml | – name: Springer Berlin Heidelberg – name: Springer Nature B.V |
| References | BronheimRKhanSCarterEScoliosis and cardiopulmonary outcomes in osteogenesis imperfecta patientsSpine201944151057106310.1097/brs.000000000000301231335789 JohnsonJTheurerWA stepwise approach to the interpretation of pulmonary function testsAm Fam Physician201489535936624695507 Cobb JR (1948) Outline for the study of scoliosis. In: The American Academy of Orthopedic Surgeons Instructional Course Lectures, vol 5, pp 261–275 WekreLLKjensliAAasandKSpinal deformities and lung function in adults with osteogenesis imperfectaClin Respir J20148443744310.1111/crj.1209224308436 SillenceDOBarlowKKColeWGOsteogenesis imperfacta type delineation of the phenotype with reference to genetic heterogeneityAm J Med Genet1986233821321:STN:280:DyaL287lsF2huw%3D%3D10.1002/ajmg.13202303093953678 WareJESF-36 health survey updateSpine20002618206210.1097/00007632-200012150-00008 JanusGJMFinidoriGEngelbertRHHOperative treatment of severe scoliosis in osteogenesis imperfecta: results of 20 patients after halo traction and posterior spondylodesis with instrumentationEur Spine J2000964864911:STN:280:DC%2BD3M7ltlajtg%3D%3D10.1007/s005860000165111899163611418 KhanSYonkoECarterECardiopulmonary status in adults with osteogenesis imperfecta: intrinsic lung disease may contribute more than scoliosisClin Orthop and Relat Res2020478122833284310.1097/corr.0000000000001400 ArponenHMäkitieOWaltimo-SirénJAssociation between joint hypermobility, scoliosis, and cranial base anomalies in paediatric Osteogenesis imperfecta patients: a retrospective cross-sectional studyBMC Musculoskelet Disord2014154281:CAS:528:DC%2BC2MXitlCnt74%3D10.1186/1471-2474-15-428254946344300610 GertnerJMRootLOsteogenesis imperfectaOrthop Clin North Am19902111511621:STN:280:DyaK3c7hsV2nsA%3D%3D10.1016/S0030-5898(20)31572-82296455 RadunovicZWekreLLDiepLMSteineKCardiovascular abnormalities in adults with osteogenesis imperfectaAm Heart J2011161352352910.1016/j.ahj.2010.11.00621392607 ShapiroJRByersPGlorieuxFSponsellorPOsteogenesis imperfecta: a translational approach to brittle bone disease2014New YorkElsevier10.1016/C2011-0-07790-6 RauchFGlorieuxFHOsteogenesis imperfectaLancet20043639418137713851:CAS:528:DC%2BD2cXjtl2lsLs%3D10.1016/S0140-6736(04)16051-015110498 LoMauroAPochintestaSRomeiMD’AngeloMGRib cage deformities alter respiratory muscle action and chest wall function in patients with severe Osteogenesis imperfectaPLoS ONE201274e359651:CAS:528:DC%2BC38XntFWrsrw%3D10.1371/journal.pone.0035965225582843338769 De LimaMVDe LimaFVAkkariMRoentgenographic evaluation of the spine in patients with osteogenesis imperfectaMedicine20159447e184110.1097/md.0000000000001841266326805058949 YonkoEAEmanuelJSCarterEMRespiratory impairment impacts QOL in osteogenesis imperfecta independent of skeletal abnormalitiesArch Osteoporos202015115310.1007/s11657-020-00818-033009598 LiuGChenJZhouYThe genetic implication of scoliosis in osteogenesis imperfecta: a reviewJ Spine Surg2017346667810.21037/2Fjss.2017.10.01293547465760423 PatersonCROgstonSAHenryRMLife expectancy in osteogenesis imperfectaBMJ199631270273513511:STN:280:DyaK287ptVWlsw%3D%3D10.1136/bmj.312.7027.35186118342350292 StoroniSTreurnietSMichaDPathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic reviewAnn Med20215311676871:CAS:528:DC%2BB3MXitFaqtL%2FE10.1080/07853890.2021.1980819345693918477932 McAllionSJPatersonCRCauses of death in osteogenesis imperfectaJ Clin Pathol1996498627301:STN:280:DyaK2s%2Fjs1alsA%3D%3D10.1136/2Fjcp.49.8.6278881910500603 SandhausRAPulmonary function in osteogenesis imperfectaOsteogenesis imperfecta2014New YorkElsevier33534210.1016/B978-0-12-397165-4.00035-6 van DijkFSSillenceDOOsteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessmentAm J Med Genet A2014164A61470148110.1002/ajmg.a.3654524715559 SillenceDOSennADanksDMGenetic heterogeneity in osteogenesis imperfectaJ Med Genet19791621011161:STN:280:DyaE1M3hvVOrtw%3D%3D10.1136/jmg.16.2.1014588281012733 WidmannRFBitanFDLaplazaFJSpinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfectaSpine19992416167316781:STN:280:DyaK1MvgtFehsw%3D%3D10.1097/00007632-199908150-0000810472101 |
| References_xml | – reference: WidmannRFBitanFDLaplazaFJSpinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfectaSpine19992416167316781:STN:280:DyaK1MvgtFehsw%3D%3D10.1097/00007632-199908150-0000810472101 – reference: SandhausRAPulmonary function in osteogenesis imperfectaOsteogenesis imperfecta2014New YorkElsevier33534210.1016/B978-0-12-397165-4.00035-6 – reference: JohnsonJTheurerWA stepwise approach to the interpretation of pulmonary function testsAm Fam Physician201489535936624695507 – reference: StoroniSTreurnietSMichaDPathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic reviewAnn Med20215311676871:CAS:528:DC%2BB3MXitFaqtL%2FE10.1080/07853890.2021.1980819345693918477932 – reference: ShapiroJRByersPGlorieuxFSponsellorPOsteogenesis imperfecta: a translational approach to brittle bone disease2014New YorkElsevier10.1016/C2011-0-07790-6 – reference: RadunovicZWekreLLDiepLMSteineKCardiovascular abnormalities in adults with osteogenesis imperfectaAm Heart J2011161352352910.1016/j.ahj.2010.11.00621392607 – reference: YonkoEAEmanuelJSCarterEMRespiratory impairment impacts QOL in osteogenesis imperfecta independent of skeletal abnormalitiesArch Osteoporos202015115310.1007/s11657-020-00818-033009598 – reference: WekreLLKjensliAAasandKSpinal deformities and lung function in adults with osteogenesis imperfectaClin Respir J20148443744310.1111/crj.1209224308436 – reference: Cobb JR (1948) Outline for the study of scoliosis. In: The American Academy of Orthopedic Surgeons Instructional Course Lectures, vol 5, pp 261–275 – reference: LoMauroAPochintestaSRomeiMD’AngeloMGRib cage deformities alter respiratory muscle action and chest wall function in patients with severe Osteogenesis imperfectaPLoS ONE201274e359651:CAS:528:DC%2BC38XntFWrsrw%3D10.1371/journal.pone.0035965225582843338769 – reference: GertnerJMRootLOsteogenesis imperfectaOrthop Clin North Am19902111511621:STN:280:DyaK3c7hsV2nsA%3D%3D10.1016/S0030-5898(20)31572-82296455 – reference: ArponenHMäkitieOWaltimo-SirénJAssociation between joint hypermobility, scoliosis, and cranial base anomalies in paediatric Osteogenesis imperfecta patients: a retrospective cross-sectional studyBMC Musculoskelet Disord2014154281:CAS:528:DC%2BC2MXitlCnt74%3D10.1186/1471-2474-15-428254946344300610 – reference: BronheimRKhanSCarterEScoliosis and cardiopulmonary outcomes in osteogenesis imperfecta patientsSpine201944151057106310.1097/brs.000000000000301231335789 – reference: WareJESF-36 health survey updateSpine20002618206210.1097/00007632-200012150-00008 – reference: van DijkFSSillenceDOOsteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessmentAm J Med Genet A2014164A61470148110.1002/ajmg.a.3654524715559 – reference: McAllionSJPatersonCRCauses of death in osteogenesis imperfectaJ Clin Pathol1996498627301:STN:280:DyaK2s%2Fjs1alsA%3D%3D10.1136/2Fjcp.49.8.6278881910500603 – reference: LiuGChenJZhouYThe genetic implication of scoliosis in osteogenesis imperfecta: a reviewJ Spine Surg2017346667810.21037/2Fjss.2017.10.01293547465760423 – reference: De LimaMVDe LimaFVAkkariMRoentgenographic evaluation of the spine in patients with osteogenesis imperfectaMedicine20159447e184110.1097/md.0000000000001841266326805058949 – reference: JanusGJMFinidoriGEngelbertRHHOperative treatment of severe scoliosis in osteogenesis imperfecta: results of 20 patients after halo traction and posterior spondylodesis with instrumentationEur Spine J2000964864911:STN:280:DC%2BD3M7ltlajtg%3D%3D10.1007/s005860000165111899163611418 – reference: KhanSYonkoECarterECardiopulmonary status in adults with osteogenesis imperfecta: intrinsic lung disease may contribute more than scoliosisClin Orthop and Relat Res2020478122833284310.1097/corr.0000000000001400 – reference: SillenceDOBarlowKKColeWGOsteogenesis imperfacta type delineation of the phenotype with reference to genetic heterogeneityAm J Med Genet1986233821321:STN:280:DyaL287lsF2huw%3D%3D10.1002/ajmg.13202303093953678 – reference: RauchFGlorieuxFHOsteogenesis imperfectaLancet20043639418137713851:CAS:528:DC%2BD2cXjtl2lsLs%3D10.1016/S0140-6736(04)16051-015110498 – reference: SillenceDOSennADanksDMGenetic heterogeneity in osteogenesis imperfectaJ Med Genet19791621011161:STN:280:DyaE1M3hvVOrtw%3D%3D10.1136/jmg.16.2.1014588281012733 – reference: PatersonCROgstonSAHenryRMLife expectancy in osteogenesis imperfectaBMJ199631270273513511:STN:280:DyaK287ptVWlsw%3D%3D10.1136/bmj.312.7027.35186118342350292 |
| SSID | ssj0015906 |
| Score | 2.418713 |
| Snippet | Purpose
Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is... Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is type... PurposeOsteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is... |
| SourceID | proquest pubmed springer |
| SourceType | Aggregation Database Index Database Publisher |
| StartPage | 2295 |
| SubjectTerms | Carbon dioxide Collagen (type I) Genetic disorders Medicine Medicine & Public Health Morbidity Neurosurgery Original Article Osteogenesis Osteogenesis imperfecta Pathophysiology Phenotypes Population Population studies Respiratory function Scoliosis Surgical Orthopedics Thorax |
| SummonAdditionalLinks | – databaseName: SpringerLINK Contemporary 1997-Present dbid: RSV link: http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LT9wwEB7xEuJSoOWxBSpX6hFLcRzH9rGqQOwBhNpScYuc2KkioWS12UXi3zPjzS4HuMA51sjyN5754nkB_NAe_9CQtnItvedZVWpeitJyFaR3ug5eVyYOm9A3N-b-3t4ORWH9Mtt9GZKMlnpV7EYT8ChhlrIlkYVztQ6b6O4MXcfff_6tYgfKxoma1BiO51rYoVTmbRlvEctXQdHoay53P7bLPfg0cEv2c6EM-7AW2s-wfT1Ez79AQ_2aXKwyYl3NetSBpuubnrnWMyqXRPPn2WT-gKrppk-MfB7hxpqWDf1Xe0YPt4webtl4PGZUItL9J3uJYlBEmFJ6iDuAu8uLv7-u-DBqgU9kqme8Vs4pGdIycaoyPjfBirrKSutTi5TNK5lUSe6sqYMzXphaJok32ghdOSvSUh7CRtu14RhYFTJdpqG2OoTMW-NEyGTpRUBioZVwIzhdnngx3Je-SDUyV5OhfRnB99Vn1HQKX7g2dHNck-fEZnA7IzhaIFVMFi05ConELcuUGsH5EpYX4avOzBGbArEpIjaF-vq-5Sewk0ZkKcXsFDZm03k4g63qcdb0029RC58BRcnZpg priority: 102 providerName: Springer Nature |
| Title | Prevalence of scoliosis and impaired pulmonary function in patients with type III osteogenesis imperfecta |
| URI | https://link.springer.com/article/10.1007/s00586-022-07260-5 https://www.ncbi.nlm.nih.gov/pubmed/35604455 https://www.proquest.com/docview/2708084183 https://www.proquest.com/docview/2668222416 |
| Volume | 31 |
| WOSCitedRecordID | wos000800970600002&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| journalDatabaseRights | – providerCode: PRVAVX databaseName: SpringerLINK Contemporary 1997-Present customDbUrl: eissn: 1432-0932 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0015906 issn: 0940-6719 databaseCode: RSV dateStart: 19970101 isFulltext: true titleUrlDefault: https://link.springer.com/search?facet-content-type=%22Journal%22 providerName: Springer Nature |
| link | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1Lj9MwEB6xXQ5ceIhXYVkZiSMWcWzH9gkB2hW9VKvlod4ix3ZQJJSUpkXi3zPjpt0DiAuXSFGikeWZjL_M6wN4ZSL-oSFs5UbGyFVoDG9E47hOMnrTpmiCzWQTZrm0q5W7mgJu41RWefCJ2VHHIVCM_E1pENtYhRb4dv2DE2sUZVcnCo0TOKVJZWoGp-8vllfXxzyCdpldk4bE8coIN7XN5OY5YtSjAlyqvkRUz_XfQOYfCdJ87lze-98V34e7E-Jk7_Ym8gBupf4hdDS6yeeGIza0bERz6IaxG5nvI6POSfSEka1331GI3_xidPyRClnXs2kU68gohssohssWiwWjbpHhG7lOFIMi0oYqRfwj-HJ58fnDRz6xLvC1LM2Wt9p7LVPZFF4HGyubnGiDalwsHaK3qGURiso72yZvo7CtLIpojRUmeCfKRj6GWT_06SmwkJRpytQ6k5KKznqRlGyiSIgxjBZ-DmeHnaunT2esb7ZtDi-Pj9HoKZPh-zTs8J2qImCDy5nDk72i6vV-OkctEcMppfUcXh80dyP8OKQ5K79G5ddZ-bV-9u-1PIc7ZTYVqi47g9l2s0sv4Hb4ue3GzTmcmJXJV3s-mSDeXX_6-hscZuSs |
| linkProvider | ProQuest |
| linkToHtml | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwEB6VggQXHuK1UMBIcMMisePYPiCEgKpRy4pDkfYWnNipIqFk2eyC-qf4jcx4k-0BxK0HzolGTvx5_M0b4IX2aKEhbeVaes-zutK8SivLVZDe6SZ4XZs4bELP52axsJ_34NdUC0NplZNOjIra9zX5yF8LjdzGZIjAt8vvnKZGUXR1GqGxhcVxOP-JJtvwpviA-_tSiMOPp--P-DhVgC-l0GveKOeUDKJKnKqNz02waVNnlfXCIjvxSiZ1kjtrmuCMT00jk8QbbVJdO5uKSqLcK3AV9bimFDK92Bl4yAziLE9qScdzndqxSCeW6tH8Pkr3pVxPtCG4-hul_SMcG2-5w1v_2_-5DTdHPs3ebQ_AHdgL3V1oqTGVi-VUrG_YgGBv-6EdmOs8o7pQ1POeLTffcNFudc7ocieAsrZjY6PZgZGHmpGHmhVFwagWpj-jiwHFoIiwojwYdw--XMrX3Yf9ru_CQ2B1yHQlQmN1CJm3xqUhk5VPAzIorVI3g4Npp8pRMQzlxTbN4PnuMR5pitO4LvQbfCfPibbhcmbwYAuMcrntPVJKZKhZptQMXk1IuRC-a0EdwVYi2MoItlI9-vdansH1o9NPJ-VJMT9-DDdEhCnl0R3A_nq1CU_gWv1j3Q6rpxHwDL5eNoJ-AxFtPdA |
| linkToPdf | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwEB6VLUK98BCvhQJGghtW4ySO7QNCQLsiKlqtEEi9BSd2UCSUbDe7oP41fh0z3mR7AHHrgXOikRN_nvnG8wJ4oRx6aEhbuUqc42lVKl6K0nDpE2dV7Z2qdBg2oeZzfXZmFnvwa6yFobTKUScGRe26iu7Ij2KF3EaniMCjekiLWBzP3izPOU2QokjrOE5jC5FTf_ET3bf-dX6Me_0yjmcnn99_4MOEAb5MYrXmtbRWJj4uIysr7TLtjairtDQuNshUnEyiKsqs0bW32gldJ1HktNJCVdaIuExQ7jXYV0gy5AT2353MF592MQxpwmRPalDHMyXMULITCvdomh8l_1LmJ3oUXP6N4P4RnA02b3brf_5bt-HmwLTZ2-3RuAN7vr0LDbWssqHQinU16_EYNF3f9My2jlHFKFoAx5ab77hou7pgZPYJuqxp2dCCtmd0d83o7prlec6oSqb7RiYDxaAIv6IMGXsPvlzJ192HSdu1_iGwyqeqjH1tlPepM9oKnyalEx65lZLCTuFw3LViUBl9cbllU3i-e4yHnSI4tvXdBt_JMiJ0uJwpPNiCpFhuu5IUCXLXNJVyCq9G1FwK3zWnDsArEHhFAF4hH_17Lc_gBgKn-JjPTx_DQRwQSwl2hzBZrzb-CVyvfqybfvV0QD-Dr1cNod9bWkfw |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Prevalence+of+scoliosis+and+impaired+pulmonary+function+in+patients+with+type+III+osteogenesis+imperfecta&rft.jtitle=European+spine+journal&rft.au=Keuning%2C+M.+C&rft.au=Leeuwerke%2C+S.+J.+G&rft.au=van+Dijk%2C+P.+R&rft.au=Harsevoort%2C+A.+G.+J&rft.date=2022-09-01&rft.pub=Springer+Nature+B.V&rft.issn=0940-6719&rft.eissn=1432-0932&rft.volume=31&rft.issue=9&rft.spage=2295&rft.epage=2300&rft_id=info:doi/10.1007%2Fs00586-022-07260-5&rft.externalDBID=HAS_PDF_LINK |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0940-6719&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0940-6719&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0940-6719&client=summon |