A5038384109- Adipokines, Inflammation, and Metabolic Diseases
- Pancreatic function and diabetes
- Facial Trauma and Fracture Management
- Craniofacial Disorders and Treatments
- Diabetes and associated disorders
- Metabolism, Diabetes, and Cancer
- Peroxisome Proliferator-Activated Receptors
- Reconstructive Facial Surgery Techniques
- Adipose Tissue and Metabolism
- Regulation of Appetite and Obesity
- Congenital heart defects research
- Salivary Gland Tumors Diagnosis and Treatment
- Cancer, Hypoxia, and Metabolism
- Medical and Biological Sciences
- Cardiovascular Function and Risk Factors
- Tumors and Oncological Cases
- Reconstructive Surgery and Microvascular Techniques
- Dental Implant Techniques and Outcomes
- Diabetes Treatment and Management
- Genetics and Neurodevelopmental Disorders
- Vascular Malformations and Hemangiomas
- Apelin-related biomedical research
- Dermatologic Treatments and Research
- Ubiquitin and proteasome pathways
- Endoplasmic Reticulum Stress and Disease
Casa Sollievo della Sofferenza
2009-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2006-2025
Sapienza University of Rome
1990-2013
Mario Negri Sud Foundation
2009
Magna Graecia University
2009
University of Chieti-Pescara
2009
Ospedale Garibaldi
2009
University of Catania
2009
Azienda Ospedaliera Sant'Andrea
2003
University of Rome Tor Vergata
2001
Insulin resistance (IR) is pathogenic for type 2 diabetes and coronary artery disease (CAD). The K121Q polymorphism of the ENPP1/PC-1 gene associated with IR. Our aim was to investigate role 121Q variant on risk CAD. Nondiabetic control subjects (n = 638), diabetic patients without CAD 535), 434) from Italy U.S. were studied. proportion carriers progressively increased in three groups (27.4, 28.8, 33.2%, respectively; adjusted P value 0.027). Among 969), had an developing before age 65 years...
Background High serum resistin has been associated with increased risk of cardiovascular disease in the general population, Only sparse and conflicting results, limited to Asian individuals, have reported, so far, type 2 diabetes. We studied role on coronary artery disease, major events all-cause mortality Methods tested association circulating concentrations (cardiovascular death, non-fatal myocardial infarction stroke) 2,313 diabetic patients European ancestry from two cross-sectional...
Adiponectin is a circulating enhancer of insulin action that secreted by the adipose tissue. In epidemiological studies, serum levels this protein predict risk type 2 diabetes and cardiovascular events. Serum adiponectin have been associated with variants at (APM1) PPARgamma2 loci also linked to markers on 5p15 14q13. We investigated role these four in regulating Caucasian population from Italy. Four haplotype-tagging single-nucleotide polymorphisms (ht-SNPs) (-11377 C>G, -4041 A>C, +45 T>G,...
The pathogenesis of cardiovascular (CV) mortality, whose rate is increased in type 2 diabetes, poorly understood. While high serum adiponectin associated with CV mortality the general population, no data are available diabetes. We here investigated whether this counterintuitive association was observable also diabetic patients and it sex-specific. Three prospective cohorts were analyzed: 1) Gargano Heart Study (GHS; 359 patients, 58 events/1,934 person-years; py); 2) Health Professional...
Reduced circulating adiponectin levels contribute to the aetiology of insulin resistance. Adiponectin circulates in three different isoforms: high molecular weight (HMW), medium (MMW) and low (LMW) isoforms. The genetics isoforms is mostly unknown. Our aim was investigate whether which extent are heritable they share common genetic backgrounds with resistance-related traits.In a family-based sample 640 nondiabetic White Caucasians from Italy, serum concentrations were measured by ELISA....
Impaired insulin action plays a major role in the pathogenesis of type 2 diabetes, chronic metabolic disorder which imposes tremendous burden to morbidity and mortality worldwide. Unraveling molecular mechanisms underlying resistance would improve setting up preventive treatment strategies diabetes. Down-regulation GALNT2, an UDPN-acetyl-alpha-D-galactosamine polypeptideN-acetylgalactosaminyltransferase-2 (ppGalNAc-T2), causes impaired signaling cultured human liver cells. In addition,...
Background High serum resistin levels have been associated with kidney dysfunction. Most of these studies carried out in individuals severe impairment, diabetes, cardiovascular disease and related treatments. Thus, the observed association might influenced by confounders. Our aim was to study relationship between resistin, urinary albumin/creatinine ratio (ACR) glomerular filtration rate (GFR) a family-based sample, Gargano Family Study (GFS) 635 non diabetic, untreated Whites. Methods A...
Insulin resistance induces increased pulse pressure (PP), endothelial dysfunction (ED), and reduced bioavailability of endothelium-derived nitric oxide (NO). The genetic background these 3 cardiovascular risk factors might be partly common. ENPP1 K121Q polymorphism is associated with insulin risk.We investigated whether the PP in white Caucasians ED vitro. In 985 individuals, (390 unrelated 595 from 248 families), was (P=8.0 x 10(-4)). families, Q121 variant accounted for 0.08 heritability...
Capillary hemangioblastomas (HGBs) of the CNS occur either sporadically or as part von Hippel-Lindau (VHL) syndrome. Molecular characterizations VHL gene in sporadic HGBs at somatic level have been limited to date. We investigated 57 patients most whom (55 [96%] 57) had a solitary HGB time surgery. Tissues from 23 these (2 related and 21 unrelated) were also genetic epigenetic levels. Two 51 with apparently no additional evidence (∼4%) found germline mutation; both subsequently developed...
The clinical impact of (1)H NMR spectroscopy in the study human organs, brain and kidney particular, is well demonstrated. vitro technique a powerful tool for monitoring changes intracellular metabolites normal neoplastic cerebral renal tissues. Healthy tumoral tissues different histologic types have been fully characterized from biochemical standpoint. Molecular characterization performed on both aqueous lipid extracts surgically removed tissue biopsies yielding full picture biochemistry....
Two Landrace Large White swine underwent angiography by the femoral route. In both cases, superior left renal artery was embolized injection of 2 ml Glubran 2((R)), diluted with Lipiodol 1:1 thereby excluding kidney poles from blood flow. During follow-up period, neither pig presented any clinical symptom correlated to embolization procedure. Case 1 sacrificed after 30 days and case 60 days. Macroscopic microscopic analysis performed in animals. Long-term two cases endovascular 2((R)) showed...
Homozygous inactivating GCK mutations have been repeatedly reported to cause severe hyperglycemia, presenting as permanent neonatal diabetes mellitus (PNDM). Conversely, only two cases of homozygous causing mild hyperglycemia so far described. We here report a novel mutation (c.1116G>C, p.E372D), in family with one member showing hyperglycemia.GCK mutational screening was carried out by Sanger sequencing. Computational analyses investigate pathogenicity and molecular dynamics (MD) were...
Gorlin-Goltz syndrome or nevoid basal cell carcinoma (NBCCS) comprises multiple carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) genetic ones. We studied one family where father then his sun resulted affected by each syndrome. a rare disease diagnosed sometimes difficult integrate. case we presented shows how you can get even in older age after numerous...
Inflammatory pseudotumour (IPT) is an uncommon disease with undefined pathogenesis. It often characterized by local aggressiveness compressive and displacing effects on surrounding structures. may appear in different regions of the body, rarely involving perineural structures unilaterally. We present a case bilateral IPT around trigeminal branches patient long-term history periorbital swelling proptosis.