Anti-idiotypic Network to Anti-transglutaminase Antibodies in the Prevention of Celiac Disease Enteropathy
Background Celiac disease (CD) is an immune-mediated disorder elicited by gluten. The common factor for all patients is the presence of variable combination of clinical manifestations, specific serum concentrations of anti-transglutaminase antibodies (anti-ttg), different degrees of enteropathy...
Responsabile: dott. Tarcisio Not
Applications of ultrastructural cell analysis in the field of reproductive technologies
Background and Significance Recently, particular attention has been paid to cryopreservation procedures of human gametes. Despite the rapid progress, these procedures have major limitations. Currently, there are different methods of cryopreservation: vitrification is the most recent. Since this...
Responsabile: prof. Giuseppe Ricci
Candidate predictors of glucocorticoid response in children with inflammatory bowel disease
Background The incidence of inflammatory bowel disease (IBD) is increasing in recent years, in particular in children and adolescent, and it is currently estimated that 20%-30% of patients experience onset of their symptoms under 20 years of age. To date, a curative pharmacological therapy for...
Responsabile: dott.ssa Sara De Iudicibus
Developmental and genetic bases of Opitz G/BBB Syndrome towards better diagnosis and management of syndromic forms of intellectual disability
Background and Significance Opitz Syndrome (OS) is a genetic form of intellectual disability with congenital midline defects caused by mutations in the MID1 gene, which encodes an E3 ubiquitin ligase of still unidentified developmental role. Full understanding of the pathogenesis is further...
Responsabile: dott.ssa Germana Meroni
Genetic of Panic Disorders
Background and Significance Panic disorder is a serious and potentially disabling psychiatric condition characterized by unexpected panic attacks and fear of their recurrence or harmful consequences. Epidemiological surveys have shown lifetime prevalence of panic disorder with or without...
Responsabile: Dott.ssa Sheila Ulivi
Genetics of Hearing loss: from basic research to clinical applications
Background Hearing loss (HL) affects one in every 1,000 births. The genetic and clinical heterogeneity of HL is vast. Since the introduction of molecular genetics, many advances have been achieved in elucidating the molecular basis of HL. Nevertheless, at least 60 HL loci still need the...
Responsabile: prof. Paolo Gasparini
Novel therapeutic perspectives for angioedema associated with C1-inhibitor deficiency or angiotensin converting enzyme-inhibitor treatment
Background and Significance Angioedema (AE) is a condition characterized by significant localized swelling of deeper layers of the skin or submucosal tissues that affects at least 20% of the population. AE is due to increased vascular permeability, leading to massive dermal and subcutaneous edema,...
Responsabile: dott.ssa Fleur Bossi
Progetto Piccolipiù - Crescere è un progetto meraviglioso
Responsabile: dott. Luca Ronfani
Home page del progetto: http://www.piccolipiu.it
Regional program of identification, intervention and taking early charge of the prevention of communication disorders in children with hearing impairment
Permanent hearing loss is the most common sensory defect in childhood. Its adverse consequences on verbal communicative abilities and psychosocial condition are well known and can persist into adolescence and adulthood. Universal neonatal hearing screening programs have widely demonstrated...
Responsabile: dott.ssa Eva Orzan
Role of TNF-related apoptosis inducing ligand (TRAIL) in diabetes mellitus and metabolic syndrome
Background Diabetes mellitus (DM) has reached epidemic levels worldwide and it is estimated that its incidence will increase by more than 100% within 2030, with a concomitant reduction of the earlier age of onset of the disease before 4 years. Clinical issues related to the disease are focused...
Responsabile: dott.ssa Federica Corallini
Towards a personalized medicine: identification of genetic risk factors (including rare variants) for cardiovascular diseases in Italian Isolated populations by Genome Wide Association Studies and Next Generation Sequencing
Background and Significance Most common diseases have are due to a combination of genetic and environmental risk factors. Genome Wide Association Studies (GWAS) discovered many genetic loci influencing such traits and diseases. In most cases however they explain a small percentage of trait...
Responsabile: prof. Paolo Gasparini
Towards development of a next-generation sequencing strategy for molecular genetic testing of inherited diseases with blood cell reduction
Background Inherited disorders in which the production of all (pancitopenia) or even one (anemia, neutropenia, and thrombocytopenia) blood cell types ceases or is greatly reduced are heterogeneous diseases characterized by complex phenotypic aspects. Clinical features often overlap, making...
Responsabile: dott.ssa Anna Savoia
Trail, the regulation of body weight and metabolism, and its interaction with thyroid hormones and metformin
Background and Significance Prevalence of obesity with its associated diseases has reached epidemic proportions and its management has become a major public health challenge. New therapies against obesity are desperately needed. TNF-related apoptosis-inducing ligand (TRAIL) is a soluble protein...
Responsabile: dott.ssa Stella Bernardi
Trial controllato randomizzato multicentrico di valutazione comparativa dell’ondansetron verso domperidone per il trattamento sintomatico del vomito acuto da gastroenterite nel bambino
download the article Study protocol: Oral ondansetron versus domperidone for symptomatic treatment of vomiting during acute gastroenteritis in children: multicentre randomized controlled trial
Responsabile: dott. Luca Ronfani/ dott. Federico Marchetti (Ravenna)
Vitamin D in the prevention of subclinical and advanced atheromatosis
Background and Significance Cardiovascular disease (CVD) is the leading cause of death worldwide and in chronic kidney disease (CKD) patients the risk of mortality from CVD is 15 times over that in the general population. Vitamin D (VD) deficiency (serum 25(OH)vitaminD<15ng/ml) is a newly...
Responsabile: dott.ssa Vittoria Arcidiacono