{"id":"W4412391937","doi":"10.1016/j.jaccas.2025.103953","title":"Apparent Nonresponse to PCSK9 Inhibition in a Patient With Heterozygous Familial Hypercholesterolemia Due to PCSK9 Gene Duplication","year":2025,"lang":"en","type":"article","venue":"JACC Case Reports","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Paul's Hospital; University of British Columbia Hospital; University of Saskatchewan; University of British Columbia","funders":"","keywords":"PCSK9; Ezetimibe; Evolocumab; Kexin; Familial hypercholesterolemia; Internal medicine; Endocrinology; Medicine; LDL receptor; Alirocumab; Gene duplication; Proprotein convertase; Cholesterol; Lipoprotein; Biology; Genetics; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004986568,0.001374847,0.001064701,0.002060903,0.00204279,0.00100149,0.001354433,0.004787313,0.001984156],"category_scores_gemma":[0.003615555,0.0009122208,0.001214414,0.001176006,0.001602153,0.0009287949,0.001145709,0.003004474,0.0005648865],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001434463,"about_ca_system_score_gemma":0.0007894122,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003272317,"about_ca_topic_score_gemma":0.003494117,"domain_scores_codex":[0.9992781,0.00008340605,0.00008268488,0.00020513,0.000108969,0.0002416516],"domain_scores_gemma":[0.9978682,0.000852354,0.0003503117,0.0001445145,0.0001137956,0.0006707292],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00003292389,0.0000155019,0.003678434,0.00000973468,0.000004936152,0.9950885,0.00009105286,0.00003320169,0.0005038877,0.00007227701,0.000118201,0.0003513866],"study_design_scores_gemma":[0.0000109605,0.00005268445,0.004028182,0.000005703323,0.000008770146,0.9951816,0.00005641978,0.0001523048,0.0002901247,0.00006015806,0.0001475209,0.000005564907],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9889935,0.001297192,0.001317167,0.003311384,0.0001966008,0.00008586166,0.0001586648,0.0001082416,0.004531414],"genre_scores_gemma":[0.9980136,0.0002135967,0.0004594676,0.0005116379,0.0001869566,0.00000840089,0.00004853753,0.00001333112,0.0005445142],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004787313,"threshold_uncertainty_score":0.01040781,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01084772477441969,"score_gpt":0.2706077701941111,"score_spread":0.2597600454196914,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}