A5024751969- Pancreatic function and diabetes
- Genetic Syndromes and Imprinting
- Diabetes and associated disorders
- Genetics and Neurodevelopmental Disorders
- Diabetes Management and Research
- RNA regulation and disease
- Obesity, Physical Activity, Diet
- Genomic variations and chromosomal abnormalities
- Cannabis and Cannabinoid Research
- Nutrition, Genetics, and Disease
- Connective tissue disorders research
- Bone Metabolism and Diseases
- Diet and metabolism studies
- Chromatin Remodeling and Cancer
- Congenital Anomalies and Fetal Surgery
- RNA Interference and Gene Delivery
- Sexual Differentiation and Disorders
- Amino Acid Enzymes and Metabolism
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Protein Tyrosine Phosphatases
- Educational and Social Studies
- Research in Cotton Cultivation
- Lipid metabolism and biosynthesis
- Inflammatory Myopathies and Dermatomyositis
- RNA Research and Splicing
University of Miami
2019-2025
Istituto Giannina Gaslini
1998-2018
University of Genoa
1985-2013
De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a clinical diagnosis CSS for these genes (ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1) identified pathogenic 45 (71%) patients. found high proportion ARID1B (68%). All four ARID1A appeared to be mosaic. By using all from Exome Variant Server as test data, we were able...
The scarcity of donors and need for immunosuppression limit pancreatic islet transplantation to a few patients with labile type 1 diabetes. Transplantation encapsulated stem cell-derived islets (SC islets) might extend the applicability larger cohort patients. conformal-coated into confined well-vascularized site allows long-term diabetes reversal in fully MHC-mismatched diabetic mice without immunosuppression. Here, we demonstrated that human SC reaggregated from cryopreserved cells display...
Twenty-five medical centers and the Prader-Willi Syndrome (PWS) Association collaborated on a study which attempted to identify all people with genetically confirmed diagnosis of PWS living in Italy. Investigators participating contacted subjects and/or their family, filled specially developed form required data forwarded this information by email. The identified 425 (209 males 216 females, between ages 0.4-46.7). Two hundred thirty-eight patients had del15, 104 UPD15, 4 demonstrated...
Polyethylene glycol (PEG)–based conformal coating (CC) encapsulation of transplanted islets is a promising β cell replacement therapy for the treatment type 1 diabetes without chronic immunosuppression because it minimizes capsule thickness, graft volume, and insulin secretion delay. However, we show here that our original CC method, direct requiring exposure to low pH levels inclusion viscosity enhancers during coating, severely affected viability, scalability, biocompatibility in nonhuman...
Compared to primary pancreatic islets, insulinoma cell-derived 3D pseudoislets offer a more accessible, consistent, renewable, and widely applicable model system for optimization mechanistic studies in type 1 diabetes (T1D). Here, we report simple efficient method generating from MIN6 NIT-1 murine cells. These are homogeneous size morphology (~150 µm), exhibit functional glucose-stimulated insulin secretion (GSIS) up 18 days (NIT-1) enabling long-term studies, produced high yield [>35,000...
Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, (nonautoimmune), optic atrophy, and deafness (a set of conditions referred to as DIDMOAD). The WFS1 gene located on the short arm chromosome 4. prevalence 1 in 770,000 live births, with a 354 carrier frequency.We evaluated six Italian children from five unrelated families. Genetic analysis for was performed PCR amplification direct sequencing.Mutation screening revealed distinct...
Aims: Growth hormone deficiency therapy is demanding for patients and caregivers. Teams engaged in the clinical management of growth need to know how families live with this condition, provide an adequate support prevent risk withdrawal from therapy. Methods: Using Narrative Medicine, testimonies patients, their parents providers care were collected 11 Italian centers. Narrations analyzed throughout elaboration recurring words expressions. Results: Although outcomes considered satisfying 182...
The aetiology of impaired growth hormone (GH) secretion in Prader-Willi syndrome (PWS) remains controversial due to the common occurrence obesity. To further clarify whether suboptimal GH PWS is an artefact excess weight, we evaluated both immunological activity and bioactivity after arginine administration 23 non-obese patients [seven females, aged 6.9±0.9 years, body mass index (BMI) SDS 0.63±0.26], comparison with a control group 32 healthy subjects, matched for age, gender BMI (10...
The need for chronic systemic immunosuppression, which is associated with unavoidable side-effects, greatly limits the applicability of allogeneic cell transplantation regenerative medicine applications including pancreatic islet to restore insulin production in type 1 diabetes (T1D). Cell confined sites enables localized delivery anti-inflammatory and immunomodulatory drugs prevent graft loss by innate adaptive immunity, providing an opportunity achieve local effects while minimizing...
Article A Survey on Prader-Willi Syndrome in the Italian Population: Prevalence of Historical and Clinical Signs was published October 1, 2009 journal Journal Pediatric Endocrinology Metabolism (volume 22, issue 10).
Pancreatic islet transplantation improves metabolic control and prevents complications in patients with brittle type 1 diabetes (T1D). However, chronic immunosuppression is required to prevent allograft rejection recurrence of autoimmunity. Islet encapsulation may eliminate the need for immunosuppression. Here, we analyzed parallel two microencapsulation platforms that provided long-term reversal preclinical T1D models, alginate single double capsules versus polyethylene glycol conformal...
Abstract We report on a follow‐up evaluation of male with phenotype including craniosynostosis, periventricular nodular heterotopia, and neurodevelopmental delay. He was initially assigned clinical diagnosis Fontaine–Farriaux syndrome (FFS) as an infant although now, improved delineation this entity, it is evident that not applicable to individual. Array comparative genomic hybridization has demonstrated 300 kb interstitial deletion Xp22.11 affecting all or part three annotated genes, ZFX ,...