A5052985402- Lipoproteins and Cardiovascular Health
- Cancer, Lipids, and Metabolism
- Genetic factors in colorectal cancer
- Lipid metabolism and disorders
- Cholesterol and Lipid Metabolism
- Pharmaceutical Economics and Policy
- Caveolin-1 and cellular processes
- Drug Transport and Resistance Mechanisms
- Pancreatitis Pathology and Treatment
- Diabetes and associated disorders
- Acute Myocardial Infarction Research
- Peroxisome Proliferator-Activated Receptors
- Pediatric Hepatobiliary Diseases and Treatments
- Adenosine and Purinergic Signaling
- Growth Hormone and Insulin-like Growth Factors
- Coronary Interventions and Diagnostics
- Genetic and Kidney Cyst Diseases
- Diabetes Treatment and Management
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Childhood Cancer Survivors' Quality of Life
- Liver Disease Diagnosis and Treatment
- Atherosclerosis and Cardiovascular Diseases
- Helicobacter pylori-related gastroenterology studies
- Receptor Mechanisms and Signaling
- Acute Lymphoblastic Leukemia research
Ceinge Biotecnologie Avanzate (Italy)
2016-2022
University of Naples Federico II
2016-2022
Federico II University Hospital
2020-2021
Abstract Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by pathogenic variants in genes encoding for LDL receptor (LDLR), Apolipoprotein B and Proprotein convertase subtilisin/kexin type 9 (PCSK9). Among PCSK9 variants, only Gain-of- Function (GOF) lead to FH. Greater attention should be paid the classification of as pathogenic. Two hundred sixty nine patients with a clinical suspect FH were screened LDLR without APOB. Functional characterization was performed...
Familial hypercholesterolemia is a common autosomal dominant disease, caused by mutations leading to elevated low-density lipoprotein (LDL) cholesterol and, if untreated, premature cardiovascular disease. Patients (young adults with family history of hypercholesterolaemia or disease) LDL concentration ≥4.9 mmol/l, after excluding Combined Hyperlipidaemia, were evaluated for causative mutations, Dutch Lipid Clinic Network score calculation and non-invasive ultrasound examination carotid...
Homozygous familial hypercholesterolemia (HoFH), the severest form of (FH), is characterized by very high LDL-cholesterol levels and a frequency coronary heart disease. The disease caused presence either pathogenic variant at homozygous status or two variants compound heterozygous in LDLR, APOB, PCSK9 genes. We retrospectively analyzed data 23 HoFH patients (four children 19 adults) identified during genetic screening 724 FH patients. Genetic was performed sequencing causative genes...
Familial hypercholesterolemia (FH) is the most common genetic disease caused by variants in LDLR, APOB, PCSK9 genes; it characterized high levels of LDL-cholesterol and premature cardiovascular disease. We aim to perform a retrospective analysis genetically screened population (528 unrelated patients-342 adults 186 children) evaluate biochemical clinical correlations with different statuses. Genetic screening was performed traditional sequencing some patients were re-analyzed...
Abstract Background Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in genes involved low-density lipoprotein (LDL) uptake ( LDLR , APOB and PCSK9 ). Genetic diagnosis particularly useful asymptomatic children allowing for the detection of definite FH patients. Furthermore, defining their status may be considerable importance as compound heterozygous much more severe than one. Our study aims at depicting background an Italian pediatric population with focusing on...
Caroli disease (CD, OMIM #600643) is a rare autosomal recessive disorder characterized by polycystic segmental dilatation of the intrahepatic bile ducts and extreme variability in age onset clinical manifestations. When congenital hepatic fibrosis associated with biliary tract, condition referred as syndrome. The thought to be caused pathogenic variants PKHD1 gene (OMIM *606702).We report clinical, biochemical, molecular characterization three patients suspicion CS belonging two different...
PEG-Asparaginase (also known as Pegaspargase), along with glucocorticoids (predominantly prednisolone or dexamethasone) and other chemotherapeutic agents (such cyclophosphamide, idarubicin, vincristine, cytarabine, methotrexate 6-mercaptopurine) is the current standard treatment for acute lymphoblastic leukaemia in both children adults. High doses of PEG-asparaginase are associated side effects such hepatotoxicity, pancreatitis, venous thrombosis, hypersensitivity reactions against drug...
Abstract Introduction Familial hypercholesterolemia (FH) is an autosomal dominant disease that leads to premature cardiovascular (CAD). The availability of ab-PCSK9 has changed the approach therapy. Purpose To evaluate relationship between different types mutations in LDLR gene and response ab-PCSK9. Methods 73 FH patients, 33 women 40 men (53.9±13. yrs), primary prevention (N=46) secondary (N=27), were recruited. This sample included patients with gene: heterozygotes for missense (N=31),...
Abstract Background PCSK-9-i demonstrated efficacy in cholesterol reduction and prevention of cardiovascular events. Purpose Changes lipid-profile, oxidative stress subclinical atherosclerosis markers patients with familial hypercholesterolemia (FH) during 12 weeks treatment PCSK-9-i. Methods Patients FH starting a Evolocumab® were included. TC, LDL-C, Lp(a), small dense LDL (assessed byLDL score), 11-dehydro-thromboxane (11-TXB2), 8-iso-prostaglandin-2alpha (8-iso-PGF2α),FMD, RHI carotid...