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10.1016/j.ymgme.2013.08.007

http://scihub22266oqcxt.onion/10.1016/j.ymgme.2013.08.007
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suck abstract from ncbi

pmid24246682      Mol+Genet+Metab 2014 ; 111 (1): 41-5
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  • Decreased bone mineral density in Costello syndrome #MMPMID24246682
  • Leoni C; Stevenson DA; Martini L; De Sanctis R; Mascolo G; Pantaleoni F; De Santis S; La Torraca I; Persichilli S; Caradonna P; Tartaglia M; Zampino G
  • Mol Genet Metab 2014[Jan]; 111 (1): 41-5 PMID24246682show ga
  • INTRODUCTION: Costello syndrome (CS) is a multisystemic disorder characterized by postnatal reduced growth, facial dysmorphism, cardiac defects, cognitive impairment, skin and musculo-skeletal anomalies, and predisposition to certain cancers. CS is caused by activating germline mutations in the HRAS proto-oncogene. Similar to what is observed in other RASopathies, CS causative HRAS mutations promote enhanced signal flow through the RAF-MEK-ERK and PI3K-AKT signaling cascades. While decreased bone mineralization has been documented in other RASopathies, such as neurofibromatosis type 1 and Noonan syndrome, systematic studies investigating bone mineral density (BMD) are lacking in CS. MATERIALS AND METHODS: Dual-energy X-ray absorptiometry (DXA) was utilized to assess BMD and body composition (fat and fat-free mass) in a cohort of subjects with molecularly confirmed diagnosis of CS (n = 9) and age-matched control individuals (n = 29). Using general linear regression, subtotal body (total body less head), lumbar, femoral neck and femur BMD parameters were compared considering age, sex, body mass index (BMI) and Tanner stage. Blood and urine biomarkers of bone metabolism were also assessed. RESULTS: All individuals with CS showed significantly lower mean values of subtotal, lumbar and femoral neck BMD compared to the control group (p
  • |25-Hydroxyvitamin D 2/*blood[MESH]
  • |Absorptiometry, Photon/*methods[MESH]
  • |Adolescent[MESH]
  • |Adult[MESH]
  • |Body Composition/*physiology[MESH]
  • |Body Mass Index[MESH]
  • |Bone Density/*physiology[MESH]
  • |Case-Control Studies[MESH]
  • |Child[MESH]
  • |Costello Syndrome/*physiopathology[MESH]
  • |Female[MESH]
  • |Femur Neck/diagnostic imaging[MESH]
  • |Femur/diagnostic imaging[MESH]
  • |Humans[MESH]
  • |Lumbar Vertebrae/diagnostic imaging[MESH]
  • |Male[MESH]
  • |Proto-Oncogene Mas[MESH]


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