A5068808463- Pancreatic function and diabetes
- Inflammatory Biomarkers in Disease Prognosis
- Cardiovascular Disease and Adiposity
- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Adipokines, Inflammation, and Metabolic Diseases
- Pancreatic and Hepatic Oncology Research
- Pancreatitis Pathology and Treatment
- Receptor Mechanisms and Signaling
- Prenatal Screening and Diagnostics
- Steroid Chemistry and Biochemistry
- Cholesterol and Lipid Metabolism
Bambino Gesù Children's Hospital
2024
Istituti di Ricovero e Cura a Carattere Scientifico
2021-2024
IRCCS Istituto Auxologico Italiano
2021
Creative Commons
2015
Università Cattolica del Sacro Cuore
2015
Christie's
2015
Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused biallelic mutations DHCR24 encoding 3-β-hydroxysterol Δ-24-reductase. regarded as the key enzyme cholesterol synthesis in metabolism brain it catalyzes reduction Δ-24 double bond intermediates during biosynthesis. To date, 15 variants, detected 2 related 14...
The rising prevalence of obesity is a major global health problem. In severe obesity, bariatric surgery (BS) allows to obtain significant weight loss and comorbidities improvement, among them one the factors thrombotic risk. this observational study, we measured indices leukocyte activation in severely obese patients as markers increased risk relation with serum inflammation before after BS. Frequency polymorphonuclear neutrophil-platelet (PLT) monocyte (MONO)-PLT aggregates well tissue...
Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis based on six features: pre- and postnatal failure, relative macrocephaly, prominent forehead, body asymmetry, feeding difficulties (Netchine–Harbison scoring system (NH-CSS)). The molecular mechanisms consist (epi)genetic deregulations at multiple loci: the loss of methylation (LOM) paternal H19/IGF2:IG-DMR (chr11p15.5) (50%) maternal uniparental disomy chromosome 7 (UPD(7)mat) (10%)...
Chronic pancreatitis is often secondary to alcohol abuse, but with no other aetiology frequently associated variants in genes encoding proteins related zymogen granule activation. Our goal was identify genomic a patient by analyzing an extended panel of the intra-pancreatic activation trypsin pathway. A 23-year-old woman addressed at our institution because chronic unknown presenting recurrent episodes since she age four. Next Generation Sequencing performed analyze nine (CaSR, CFTR, CPA1,...