FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2094159871> ?p ?o ?g. }

• W2094159871 endingPage "654" @default.
• W2094159871 startingPage "643" @default.
• W2094159871 abstract "High bone mineral density on routine dual energy X-ray absorptiometry (DXA) may indicate an underlying skeletal dysplasia. Two hundred fifty-eight individuals with unexplained high bone mass (HBM), 236 relatives (41% with HBM) and 58 spouses were studied. Cases could not float, had mandible enlargement, extra bone, broad frames, larger shoe sizes and increased body mass index (BMI). HBM cases may harbour an underlying genetic disorder. High bone mineral density is a sporadic incidental finding on routine DXA scanning of apparently asymptomatic individuals. Such individuals may have an underlying skeletal dysplasia, as seen in LRP5 mutations. We aimed to characterize unexplained HBM and determine the potential for an underlying skeletal dysplasia. Two hundred fifty-eight individuals with unexplained HBM (defined as L1 Z-score ≥ +3.2 plus total hip Z-score ≥ +1.2, or total hip Z-score ≥ +3.2) were recruited from 15 UK centres, by screening 335,115 DXA scans. Unexplained HBM affected 0.181% of DXA scans. Next 236 relatives were recruited of whom 94 (41%) had HBM (defined as L1 Z-score + total hip Z-score ≥ +3.2). Fifty-eight spouses were also recruited together with the unaffected relatives as controls. Phenotypes of cases and controls, obtained from clinical assessment, were compared using random-effects linear and logistic regression models, clustered by family, adjusted for confounders, including age and sex. Individuals with unexplained HBM had an excess of sinking when swimming (7.11 [3.65, 13.84], p < 0.001; adjusted odds ratio with 95% confidence interval shown), mandible enlargement (4.16 [2.34, 7.39], p < 0.001), extra bone at tendon/ligament insertions (2.07 [1.13, 3.78], p = 0.018) and broad frame (3.55 [2.12, 5.95], p < 0.001). HBM cases also had a larger shoe size (mean difference 0.4 [0.1, 0.7] UK sizes, p = 0.009) and increased BMI (mean difference 2.2 [1.3, 3.1] kg/m2, p < 0.001). Individuals with unexplained HBM have an excess of clinical characteristics associated with skeletal dysplasia and their relatives are commonly affected, suggesting many may harbour an underlying genetic disorder affecting bone mass." @default.
• W2094159871 created "2016-06-24" @default.
• W2094159871 creator A5004984479 @default.
• W2094159871 creator A5006817439 @default.
• W2094159871 creator A5008290002 @default.
• W2094159871 creator A5010678013 @default.
• W2094159871 creator A5011392977 @default.
• W2094159871 creator A5013184354 @default.
• W2094159871 creator A5015477612 @default.
• W2094159871 creator A5015520850 @default.
• W2094159871 creator A5016914984 @default.
• W2094159871 creator A5037004738 @default.
• W2094159871 creator A5039088690 @default.
• W2094159871 creator A5040849207 @default.
• W2094159871 creator A5042394035 @default.
• W2094159871 creator A5047919216 @default.
• W2094159871 creator A5057664758 @default.
• W2094159871 creator A5059562264 @default.
• W2094159871 creator A5060987559 @default.
• W2094159871 creator A5061807430 @default.
• W2094159871 creator A5065144384 @default.
• W2094159871 creator A5072894458 @default.
• W2094159871 creator A5076596784 @default.
• W2094159871 creator A5079049078 @default.
• W2094159871 creator A5079064941 @default.
• W2094159871 creator A5084469456 @default.
• W2094159871 creator A5084768604 @default.
• W2094159871 creator A5086938293 @default.
• W2094159871 creator A5088590291 @default.
• W2094159871 date "2011-04-01" @default.
• W2094159871 modified "2023-10-17" @default.
• W2094159871 title "‘Sink or swim’: an evaluation of the clinical characteristics of individuals with high bone mass" @default.
• W2094159871 cites W1573085412 @default.
• W2094159871 cites W1967057044 @default.
• W2094159871 cites W1984054554 @default.
• W2094159871 cites W1996555833 @default.
• W2094159871 cites W2002005732 @default.
• W2094159871 cites W2002073678 @default.
• W2094159871 cites W2002272803 @default.
• W2094159871 cites W2011491283 @default.
• W2094159871 cites W2033211194 @default.
• W2094159871 cites W2034567302 @default.
• W2094159871 cites W2035377083 @default.
• W2094159871 cites W2041072425 @default.
• W2094159871 cites W2045520966 @default.
• W2094159871 cites W2074059010 @default.
• W2094159871 cites W2081616086 @default.
• W2094159871 cites W2086694435 @default.
• W2094159871 cites W2092018867 @default.
• W2094159871 cites W2121556131 @default.
• W2094159871 cites W2123861916 @default.
• W2094159871 cites W2128412753 @default.
• W2094159871 cites W2147823464 @default.
• W2094159871 cites W2147970485 @default.
• W2094159871 cites W2153088288 @default.
• W2094159871 cites W2155377428 @default.
• W2094159871 cites W2158119213 @default.
• W2094159871 cites W2160306549 @default.
• W2094159871 cites W2160876079 @default.
• W2094159871 cites W2161465453 @default.
• W2094159871 cites W2167629345 @default.
• W2094159871 cites W2170298287 @default.
• W2094159871 cites W270076708 @default.
• W2094159871 cites W4256484569 @default.
• W2094159871 doi "https://doi.org/10.1007/s00198-011-1603-4" @default.
• W2094159871 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3261396" @default.
• W2094159871 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21455762" @default.
• W2094159871 hasPublicationYear "2011" @default.
• W2094159871 type Work @default.
• W2094159871 sameAs 2094159871 @default.
• W2094159871 citedByCount "51" @default.
• W2094159871 countsByYear W20941598712013 @default.
• W2094159871 countsByYear W20941598712014 @default.
• W2094159871 countsByYear W20941598712015 @default.
• W2094159871 countsByYear W20941598712016 @default.
• W2094159871 countsByYear W20941598712017 @default.
• W2094159871 countsByYear W20941598712018 @default.
• W2094159871 countsByYear W20941598712019 @default.
• W2094159871 countsByYear W20941598712020 @default.
• W2094159871 countsByYear W20941598712021 @default.
• W2094159871 countsByYear W20941598712022 @default.
• W2094159871 countsByYear W20941598712023 @default.
• W2094159871 crossrefType "journal-article" @default.
• W2094159871 hasAuthorship W2094159871A5004984479 @default.
• W2094159871 hasAuthorship W2094159871A5006817439 @default.
• W2094159871 hasAuthorship W2094159871A5008290002 @default.
• W2094159871 hasAuthorship W2094159871A5010678013 @default.
• W2094159871 hasAuthorship W2094159871A5011392977 @default.
• W2094159871 hasAuthorship W2094159871A5013184354 @default.
• W2094159871 hasAuthorship W2094159871A5015477612 @default.
• W2094159871 hasAuthorship W2094159871A5015520850 @default.
• W2094159871 hasAuthorship W2094159871A5016914984 @default.
• W2094159871 hasAuthorship W2094159871A5037004738 @default.
• W2094159871 hasAuthorship W2094159871A5039088690 @default.
• W2094159871 hasAuthorship W2094159871A5040849207 @default.
• W2094159871 hasAuthorship W2094159871A5042394035 @default.
• W2094159871 hasAuthorship W2094159871A5047919216 @default.
• W2094159871 hasAuthorship W2094159871A5057664758 @default.

• next