000097413 001__ 97413
000097413 005__ 20230706131420.0
000097413 0247_ $$2doi$$a10.3390/app11020710
000097413 0248_ $$2sideral$$a121806
000097413 037__ $$aART-2021-121806
000097413 041__ $$aeng
000097413 100__ $$0(orcid)0000-0001-8500-1667$$aMatute-Llorente, Ángel$$uUniversidad de Zaragoza
000097413 245__ $$aTargeted gene sequencing, bone health, and body composition in Cornelia de Lange Syndrome
000097413 260__ $$c2021
000097413 5060_ $$aAccess copy available to the general public$$fUnrestricted
000097413 5203_ $$aThe aim of this study was to evaluate bone health and body composition by dual-energy X-ray absorptiometry (DXA) in individuals with Cornelia de Lange Syndrome (CdLS). Overall, nine individuals with CdLS (five females, all Caucasian, aged 5-38 years) were assessed. Total body less head (TBLH) and lumbar spine (LS) scans were performed, and bone serum biomarkers were determined. Molecular analyses were carried out and clinical scores and skeletal features were assessed. Based on deep sequencing of a custom target gene panel, it was discovered that eight of the nine CdLS patients had potentially causative genetic variants in NIPBL. Fat and lean mass indices (FMI and LMI) were 3.4-11.1 and 8.4-17.0 kgm2, respectively. For TBLH areal bone mineral density (aBMD), after adjusting for height for age Z-score of children and adolescents, two individuals (an adolescent and an adult) had low BMD (aBMD Z-scores less than -2.0 SD). Calcium, phosphorus, 25-OH-vitamin D, parathyroid hormone, and alkaline phosphatase levels were 2.08-2.49 nmolL, 2.10-3.75 nmolL, 39.94-78.37 nmolL, 23.4-80.3 pgmL, and 43-203 IUL, respectively. Individuals with CdLS might have normal adiposity and low levels of lean mass measured with DXA. Bone health in this population seems to be less of a concern during childhood and adolescence. However, they might be at risk for impaired bone health due to low aBMD in adulthood.
000097413 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B32-17R$$9info:eu-repo/grantAgreement/ES/FIS/PI19-01860
000097413 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000097413 590__ $$a2.838$$b2021
000097413 592__ $$a0.507$$b2021
000097413 594__ $$a3.7$$b2021
000097413 591__ $$aENGINEERING, MULTIDISCIPLINARY$$b39 / 92 = 0.424$$c2021$$dQ2$$eT2
000097413 591__ $$aPHYSICS, APPLIED$$b76 / 161 = 0.472$$c2021$$dQ2$$eT2
000097413 591__ $$aMATERIALS SCIENCE, MULTIDISCIPLINARY$$b218 / 344 = 0.634$$c2021$$dQ3$$eT2
000097413 591__ $$aCHEMISTRY, MULTIDISCIPLINARY$$b100 / 179 = 0.559$$c2021$$dQ3$$eT2
000097413 593__ $$aEngineering (miscellaneous)$$c2021$$dQ2
000097413 593__ $$aComputer Science Applications$$c2021$$dQ2
000097413 593__ $$aProcess Chemistry and Technology$$c2021$$dQ2
000097413 593__ $$aMaterials Science (miscellaneous)$$c2021$$dQ2
000097413 593__ $$aFluid Flow and Transfer Processes$$c2021$$dQ2
000097413 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000097413 700__ $$aAscaso, Ángela
000097413 700__ $$0(orcid)0000-0002-4703-6620$$aLatorre-Pellicer, Ana$$uUniversidad de Zaragoza
000097413 700__ $$0(orcid)0000-0003-0170-7326$$aPuisac, Beatriz$$uUniversidad de Zaragoza
000097413 700__ $$aTrujillano, Laura
000097413 700__ $$aLlorente, Elena
000097413 700__ $$0(orcid)0000-0002-7213-7095$$aPuente-Lanzarote, Juan José$$uUniversidad de Zaragoza
000097413 700__ $$0(orcid)0000-0002-0023-8137$$aAyerza-Casas, Ariadna
000097413 700__ $$0(orcid)0000-0001-9962-2157$$aArnedo, María$$uUniversidad de Zaragoza
000097413 700__ $$0(orcid)0000-0003-0454-653X$$aMoreno, Luis A.$$uUniversidad de Zaragoza
000097413 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, Feliciano$$uUniversidad de Zaragoza
000097413 700__ $$0(orcid)0000-0003-3203-6254$$aPié, Juan$$uUniversidad de Zaragoza
000097413 700__ $$0(orcid)0000-0002-7215-6931$$aCasajus, José A.$$uUniversidad de Zaragoza
000097413 700__ $$0(orcid)0000-0002-0902-387X$$aBueno-Lozano, Gloria$$uUniversidad de Zaragoza
000097413 7102_ $$11006$$2255$$aUniversidad de Zaragoza$$bDpto. Fisiatría y Enfermería$$cÁrea Enfermería
000097413 7102_ $$11006$$2245$$aUniversidad de Zaragoza$$bDpto. Fisiatría y Enfermería$$cÁrea Educación Física y Depor.
000097413 7102_ $$11012$$2410$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Fisiología
000097413 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000097413 773__ $$g11, 2 (2021), 710 [11 pp]$$pAppl. sci.$$tApplied Sciences (Switzerland)$$x2076-3417
000097413 8564_ $$s228492$$uhttps://zaguan.unizar.es/record/97413/files/texto_completo.pdf$$yVersión publicada
000097413 8564_ $$s527755$$uhttps://zaguan.unizar.es/record/97413/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000097413 909CO $$ooai:zaguan.unizar.es:97413$$particulos$$pdriver
000097413 951__ $$a2023-07-06-12:21:09
000097413 980__ $$aARTICLE