FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4386117096> ?p ?o ?g. }

• W4386117096 abstract "The RASopathies (Noonan syndrome [NS] and Costello syndrome [CS]) are rare disorders. Although these have been characterized, precise delineation of the differences in the spinal deformities associated with RASopathy has not been described. This study characterized the spinal deformities found in NS and CS and describes a strategy for the screening of scoliosis.The clinical records and spinal X-rays of 35 consecutive NS and CS patients were reviewed. Spinal X-rays were assessed to define the presence and progression of scoliosis. Clinical records were examined to identify the risk factors associated with scoliosis. In addition, we investigated the association between clinical records and scoliosis using logistic regression analysis.Twenty-four patients with NS and 11 with CS were included. Nine patients with NS and five with CS showed scoliosis. The mean ± SD age at diagnosis was 12.6 ± 2.4 years in NS and 11.4 ± 2.5 years in CS (p = 0.55), and mean follow-up period was 4.8 ± 2.6 years and 6.3 ± 2.4 years (p = 0.42), respectively. The coronal angular deformity at final follow-up was 27.3 ± 8.5° in NS and 19.4 ± 6.9° in CS (p = 0.030) with a mean annual progression of 2.8 ± 1.1° in NS 1.0 ± 1.0° in CS (p = 0.030). Cardiac disease was present in eight out of nine patients with NS with concomitant scoliosis in NS, and significantly more than in CS (p = 0.007). PTPN11 significantly correlated with scoliosis (odds ratio 12.4 0.035, 95% confidence interval: 1.20-128.00).Spinal deformity in NS is more severe than in CS. This study identified a relationship between PTPN11 and scoliosis. Therefore, PTPN11 can be used for the screening of scoliosis." @default.
• W4386117096 created "2023-08-25" @default.
• W4386117096 creator A5015106160 @default.
• W4386117096 creator A5022191931 @default.
• W4386117096 creator A5028518098 @default.
• W4386117096 creator A5050308972 @default.
• W4386117096 creator A5070751742 @default.
• W4386117096 creator A5073243799 @default.
• W4386117096 creator A5078510275 @default.
• W4386117096 creator A5092685996 @default.
• W4386117096 date "2023-01-01" @default.
• W4386117096 modified "2023-09-25" @default.
• W4386117096 title "<scp>RASopathies</scp> and spinal deformities for screening of scoliosis" @default.
• W4386117096 cites W1488372279 @default.
• W4386117096 cites W1973863515 @default.
• W4386117096 cites W1977785846 @default.
• W4386117096 cites W1988365643 @default.
• W4386117096 cites W1990645035 @default.
• W4386117096 cites W2005508652 @default.
• W4386117096 cites W2008011428 @default.
• W4386117096 cites W2044551897 @default.
• W4386117096 cites W2044961658 @default.
• W4386117096 cites W2068804834 @default.
• W4386117096 cites W2077749306 @default.
• W4386117096 cites W2140408745 @default.
• W4386117096 cites W2791903830 @default.
• W4386117096 cites W2965499509 @default.
• W4386117096 cites W3004779095 @default.
• W4386117096 cites W3167154733 @default.
• W4386117096 cites W4200615161 @default.
• W4386117096 cites W4230421038 @default.
• W4386117096 cites W4307034057 @default.
• W4386117096 cites W83722308 @default.
• W4386117096 doi "https://doi.org/10.1111/ped.15589" @default.
• W4386117096 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37615376" @default.
• W4386117096 hasPublicationYear "2023" @default.
• W4386117096 type Work @default.
• W4386117096 citedByCount "0" @default.
• W4386117096 crossrefType "journal-article" @default.
• W4386117096 hasAuthorship W4386117096A5015106160 @default.
• W4386117096 hasAuthorship W4386117096A5022191931 @default.
• W4386117096 hasAuthorship W4386117096A5028518098 @default.
• W4386117096 hasAuthorship W4386117096A5050308972 @default.
• W4386117096 hasAuthorship W4386117096A5070751742 @default.
• W4386117096 hasAuthorship W4386117096A5073243799 @default.
• W4386117096 hasAuthorship W4386117096A5078510275 @default.
• W4386117096 hasAuthorship W4386117096A5092685996 @default.
• W4386117096 hasConcept C126322002 @default.
• W4386117096 hasConcept C141071460 @default.
• W4386117096 hasConcept C142724271 @default.
• W4386117096 hasConcept C156957248 @default.
• W4386117096 hasConcept C187212893 @default.
• W4386117096 hasConcept C2776149932 @default.
• W4386117096 hasConcept C2778871979 @default.
• W4386117096 hasConcept C2778984943 @default.
• W4386117096 hasConcept C2780811821 @default.
• W4386117096 hasConcept C2780955175 @default.
• W4386117096 hasConcept C2910812615 @default.
• W4386117096 hasConcept C71924100 @default.
• W4386117096 hasConceptScore W4386117096C126322002 @default.
• W4386117096 hasConceptScore W4386117096C141071460 @default.
• W4386117096 hasConceptScore W4386117096C142724271 @default.
• W4386117096 hasConceptScore W4386117096C156957248 @default.
• W4386117096 hasConceptScore W4386117096C187212893 @default.
• W4386117096 hasConceptScore W4386117096C2776149932 @default.
• W4386117096 hasConceptScore W4386117096C2778871979 @default.
• W4386117096 hasConceptScore W4386117096C2778984943 @default.
• W4386117096 hasConceptScore W4386117096C2780811821 @default.
• W4386117096 hasConceptScore W4386117096C2780955175 @default.
• W4386117096 hasConceptScore W4386117096C2910812615 @default.
• W4386117096 hasConceptScore W4386117096C71924100 @default.
• W4386117096 hasIssue "1" @default.
• W4386117096 hasLocation W43861170961 @default.
• W4386117096 hasLocation W43861170962 @default.
• W4386117096 hasOpenAccess W4386117096 @default.
• W4386117096 hasPrimaryLocation W43861170961 @default.
• W4386117096 hasRelatedWork W1529260958 @default.
• W4386117096 hasRelatedWork W2011291718 @default.
• W4386117096 hasRelatedWork W2037803896 @default.
• W4386117096 hasRelatedWork W2051578578 @default.
• W4386117096 hasRelatedWork W206821397 @default.
• W4386117096 hasRelatedWork W2323242819 @default.
• W4386117096 hasRelatedWork W2333596775 @default.
• W4386117096 hasRelatedWork W2368006178 @default.
• W4386117096 hasRelatedWork W3030836838 @default.
• W4386117096 hasRelatedWork W1597214573 @default.
• W4386117096 hasVolume "65" @default.
• W4386117096 isParatext "false" @default.
• W4386117096 isRetracted "false" @default.
• W4386117096 workType "article" @default.