0000000000346319

AUTHOR

F. Fabio

showing 3 related works from this author

Long-term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia

2023

Introduction: Lomitapide is a microsomal triglyceride transfer protein inhibitor for patients with homozygous familial hypercholesterolaemia. Due to its mechanism of action, potential hepatic effects of lomitapide are of clinical interest. This study aimed to determine the long-term hepatic safety of lomitapide. Methods: Data were aggregated from the pivotal phase 3 and extension phase clinical trial with lomitapide (median 5.1 years; serum total bilirubin, transaminases, cytokeratin-18 [CK-18] and enhanced liver fibrosis [ELF] score, fat-soluble vitamins and essential fatty acids), 8-year data from the Lomitapide Observational Worldwide Evaluation Registry (LOWER) and real-world evidence f…

Settore MED/09 - Medicina Internahepatic steatosisliverLomitapidehepatic biomarkershepatic steatosiSettore BIO/18 - Geneticahepatic biomarkerSettore BIO/14 - Farmacologialiver fibrosis.hepatichepatic; hepatic biomarkers; hepatic steatosis; homozygous familial hypercholesterolaemia; liver; liver fibrosis; lomitapidehomozygous familial hypercholesterolaemialiver fibrosis
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Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial…

2022

: Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) wer…

MaleAdultMultifactorial InheritanceSettore MED/09 - Medicina Internafamilial hypercholesterolemia; molecular diagnosis; polygenic risk score; Adult; Cholesterol LDL; Female; Humans; Middle Aged; Multifactorial Inheritance; Mutation; Gene Regulatory Networks; Hyperlipoproteinemia Type IIfamilial hypercholesterolemiaCholesterol LDLMiddle AgedLDLHyperlipoproteinemia Type IICholesterolmolecular diagnosispolygenic risk scoreMutationHumansFemaleGene Regulatory Networksmolecular diagnosifamilial hypercholesterolemia; molecular diagnosis; polygenic risk score
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SIUMB guidelines and recommendations for the correct use of ultrasound in the management of patients with focal liver disease

2019

The present document describes the SIUMB (Italian Society of Ultrasound in Medicine and Biology) guidelines for the use of ultrasound in the management of focal liver disease. The aim of the paper is to provide a clinical practice guideline for Italian physicians who are approaching the ultrasound study of a focal liver lesion. In particular, these guidelines provide simple indications, recommendations and general practice advices for the correct use of contrast-enhanced ultrasound (CEUS) in this scenario. They represent the SIUMB position of the ultrasound role in the diagnostic flow charts of the principal focal liver lesions, and are in agreement with other, previously published national…

medicine.medical_specialtySettore MED/09 - Medicina InternaHepatocellular carcinomaContrast enhanced ultrasoundCholangiocellular carcinoma; Contrast enhanced ultrasound; Focal nodular hyperplasia; Hemangioma; Hepatocellular carcinoma; MetastasisContrast MediaMetastasiCholangiocellular carcinoma030218 nuclear medicine & medical imagingMetastasis03 medical and health sciencesLiver disease0302 clinical medicineFocal nodular hyperplasiaInternal MedicineHumansMedicineRadiology Nuclear Medicine and imagingMedical physicsUltrasonographyUltrasound studybusiness.industryLiver NeoplasmsUltrasoundFocal nodular hyperplasiaGeneral MedicineGuidelinemedicine.diseaseClinical PracticeLiverLiver lesionOriginal Article030211 gastroenterology & hepatologyCholangiocellular carcinoma; Contrast enhanced ultrasound; Focal nodular hyperplasia; Hemangioma; Hepatocellular carcinoma; Metastasis; Contrast Media; Humans; Liver; Liver Neoplasms; UltrasonographybusinessHemangiomaContrast-enhanced ultrasound
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