RESUMO
We describe a patient who presented with a localized growth of mature fat tissue, which was surgically removed. MRI imaging identified diffuse increase in visceral adipose tissue. Targeted deep sequencing of the resected tissue uncovered a p.H1047R variant in PIK3CA, which was absent in blood. This report expands the phenotypic spectrum of mosaic PIK3CA mutations.
Assuntos
Lipomatose/enzimologia , Lipomatose/genética , Mesentério/patologia , Mosaicismo , Mutação/genética , Fosfatidilinositol 3-Quinases/genética , Polimorfismo de Nucleotídeo Único/genética , Tecido Adiposo/patologia , Criança , Pré-Escolar , Classe I de Fosfatidilinositol 3-Quinases , Feminino , Humanos , LactenteRESUMO
Objectives: We examined patient-specific predictors of high cost for endovascular (EVAR) and open (OPEN) repair of abdominal aortic aneurysm (AAA). Methods: Vascular Study Group of Northern New England data specific to Fletcher Allen Health Care were merged with cost data from the same source. We retrospectively analyzed 389 elective AAA repairs (230 EVAR, 159 OPEN) between 2003 and 2011 to determine clinical characteristics that contribute to membership in the upper quartile of cost (UQC) versus the remaining three quartiles. For the purpose of this exercise, it was assumed that clinical outcomes were equally good with EVAR versus OPEN repair. Results: Significant predictors of UQC for OPEN repair procedures were: history of treated chronic obstructive pulmonary disease (COPD), previous bypass surgery, transfer from hospital and age >70 (area under receiver operating curve [ROC] = 0.726). Predictors of UQC for EVAR were: presence of iliac aneurysm(s), coronary artery bypass graft surgery or percutaneous transluminal coronary angioplasty within the past 5 years, ejection fraction ≤30%, absence of beta blockers, creatinine ≥1.5mg/dL, and current use of tobacco (area under ROC = 0.784). The mean length of stay for EVAR and OPEN repair were 2.22 and 8.55 days, respectively. Costs for EVAR and OPEN repair were $32,656 (standard error of the mean [SEM] $591) and $28,183 (SEM $1,571), respectively. Conclusions: Certain risk factors at the individual patient level are predictive of UQC. Under such circumstances, it is our expectation that such algorithms may be used to select the most cost-efficient treatment.