4 results on '"Rutigliano Irene"'
Search Results
2. The Italian registry for patients with Prader–Willi syndrome
- Author
-
Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crinò, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato, Emanuela Scarano, Concetta Schiavariello, Gianluca Tornese, Danilo Fintini, Sarah Bocchini, Sara Osimani, Luisa De Sanctis, Michele Sacco, Irene Rutigliano, Maurizio Delvecchio, Maria Felicia Faienza, Malgorzata Wasniewska, Domenico Corica, Stefano Stagi, Laura Guazzarotti, Pietro Maffei, Francesca Dassie, Domenica Taruscio, Salvatore, M., Torreri, P., Grugni, G., Rocchetti, A., Maghnie, M., Patti, G., Crino, A., Elia, M., Greco, D., Romano, C., Franzese, A., Mozzillo, E., Colao, A., Pugliese, G., Pagotto, U., Lo Preiato, V., Scarano, E., Schiavariello, C., Tornese, G., Fintini, D., Bocchini, S., Osimani, S., De Sanctis, L., Sacco, M., Rutigliano, I., Delvecchio, M., Faienza, M. F., Wasniewska, M., Corica, D., Stagi, S., Guazzarotti, L., Maffei, P., Dassie, F., Taruscio, D., Salvatore, Marco, Torreri, Paola, Grugni, Graziano, Rocchetti, Adele, Maghnie, Mohamad, Patti, Giuseppa, Crinò, Antonino, Elia, Maurizio, Greco, Donatella, Romano, Corrado, Franzese, Adriana, Mozzillo, Enza, Colao, Annamaria, Pugliese, Gabriella, Pagotto, Uberto, Lo Preiato, Valentina, Scarano, Emanuela, Schiavariello, Concetta, Tornese, Gianluca, Fintini, Danilo, Bocchini, Sarah, Osimani, Sara, De Sanctis, Luisa, Sacco, Michele, Rutigliano, Irene, Delvecchio, Maurizio, Faienza, Maria Felicia, Wasniewska, Malgorzata, Corica, Domenico, Stagi, Stefano, Guazzarotti, Laura, Maffei, Pietro, Dassie, Francesca, and Taruscio, Domenica
- Subjects
Genetic diseases ,Prader–Willi syndrome ,Quality ,Rare diseases ,Registry ,Genetic disease ,Pharmacology (medical) ,General Medicine ,Rare disease ,Genetics (clinical) - Abstract
Background Prader–Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neuropsychomotor systems, and with behavioural and intellectual disorders. Rare disease patient registries are important scientific tools (1) to collect clinical and epidemiologic data, (2) to assess the clinical management including the diagnostic delay, (3) to improve patients’ care and (4) to foster research to identify new therapeutic solutions. The European Union has recommended the implementation and use of registries and databases. The main aims of this paper are to describe the process of setting up the Italian PWS register, and to illustrate our preliminary results. Materials and methods The Italian PWS registry was established in 2019 with the aims (1) to describe the natural history of the disease, (2) to determine clinical effectiveness of health care services, (3) to measure and monitor quality of care of patients. Information from six different variables are included and collected into this registry: demographics, diagnosis and genetics, patient status, therapy, quality of life and mortality. Results A total of 165 patients (50.3% female vs 49.7% male) were included into Italian PWS registry in 2019–2020 period. Average age at genetic diagnosis was 4.6 years; 45.4% of patients was less than 17 years old aged, while the 54.6% was in adult age (> 18 years old). Sixty-one percent of subjects had interstitial deletion of the proximal long arm of paternal chromosome 15, while 36.4% had uniparental maternal disomy for chromosome 15. Three patients presented an imprinting centre defect and one had a de novo translocation involving chromosome 15. A positive methylation test was demonstrated in the remaining 11 individuals but the underlying genetic defect was not identified. Compulsive food-seeking and hyperphagia was present in 63.6% of patients (prevalently in adults); 54.5% of patients developed morbid obesity. Altered glucose metabolism was present in 33.3% of patients. Central hypothyroidism was reported in 20% of patients; 94.7% of children and adolescents and 13.3% of adult patients is undergoing GH treatment. Conclusions The analyses of these six variables allowed to highlight important clinical aspects and natural history of PWS useful to inform future actions to be taken by national health care services and health professionals.
- Published
- 2023
- Full Text
- View/download PDF
3. Iodine Requirements in Pediatrics: From Fetal Life to Adolescence
- Author
-
Gabriella, Iannuzzo, Angelo, Campanozzi, Viola, Trevisani, Irene, Rutigliano, Veronica, Abate, Domenico, Rendina, Gianpaolo, De Filippo, Iannuzzo, Gabriella, Campanozzi, Angelo, Trevisani, Viola, Rutigliano, Irene, Abate, Veronica, Rendina, Domenico, and De Filippo, Gianpaolo
- Subjects
iodine deficiency ,Adolescent ,iodine ,Endocrinology, Diabetes and Metabolism ,Nutritional Status ,fetu ,Pediatrics ,Nutritional Statu ,pediatric ,Pregnancy ,Humans ,Female ,Pregnant Women ,Sodium Chloride, Dietary ,Child ,Human - Abstract
The aim of this mini-review is to present the current knowledge on iodine requirements in developmental age, from conception to adolescence. It is based on the analysis of updated national and international guidelines on iodine intake and the prevention of iodine deficiency. Health policy initiatives carried out in industrialized countries in previous decades have led to a dramatic improvement in nutritional iodine status in the general population. However, the prevention of iodine deficit continues to be a concern, especially for vulnerable categories, like adolescents and pregnant women.
- Published
- 2022
- Full Text
- View/download PDF
4. Relationship between salt consumption and iodine intake in a pediatric population
- Author
-
Iacone, R., Iaccarino Idelson, P., Campanozzi, A., Rutigliano, I., Russo, O., Formisano, P., Galeone, D., Macchia, P. E., Strazzullo, P., Agabiti-Rosei, E., Carcea, M., Donfrancesco, C., Galletti, F., Giampaoli, S., Iacoviello, L., Scalfi, L., Siani, A., De Filippo, G., Malamisura, B., Cecere, G., Micillo, M., D'Angelo, E., Maschione, R., De Marco, G., D'Angelo, G., Cosenza, C., Gualano, R., Borsetti, R., Cela, G., Francavilla, R., Tetro, A., Pensabene, L., Talarico, V., Graziano, F., Palermo, B. V. E., Lombardi, G., Illiceto, M. T., Tonelli, L., Catassi, C., Tonelli, G., Castellucci, G., Ferraro, L., Cozzali, R., Di Biase, R., Cipolli, S., Lezo, A., Santini, B., Salvatore, S., Morando, L., Paoletti, S., Gallese, A., Mazzone, T., Iacone, Roberto, IACCARINO IDELSON, Paola, Campanozzi, Angelo, Rutigliano, Irene, Russo, Ornella, Formisano, Pietro, Galeone, Daniela, Macchia, PAOLO EMIDIO, and Strazzullo, Pasquale
- Subjects
Adolescent ,Endocrinology, Diabetes and Metabolism ,Salt (chemistry) ,Nutritional Status ,Medicine (miscellaneous) ,Context (language use) ,Sodium Chloride ,World health ,Animal science ,24 h urinary excretion ,Environmental health ,salt ,Humans ,Medicine ,Sodium Chloride, Dietary ,Salt intake ,Child ,Iodine intake ,chemistry.chemical_classification ,Thyroid ,Consumption (economics) ,Nutrition and Dietetics ,iodine prophylaxi ,business.industry ,Salt reduction ,Iodine deficiency disorders ,Original Contribution ,Iodised salt ,pediatric ,chemistry ,Italy ,iodine deficiency disorder ,Salt restriction ,Hypertension ,Iodine prophylaxis ,Cardiology and Cardiovascular Medicine ,business ,Pediatric age ,Iodine ,Pediatric population - Abstract
Purpose The World Health Organization recommends reduction of salt intake to Methods The study population was made of 1270 children and adolescents. Estimates of salt consumption and iodine intake were obtained by measuring 24 h urinary sodium and iodine excretion. Results The iodine intake increased gradually across quartiles of salt consumption independently of sex, age and body weight (p 10.2 g/day). We estimated that approximately 65–73% of the total iodine intake was derived from food and 27–35% from iodized salt and that iodized salt made actually only 20% of the total salt intake. Conclusion In this pediatric population, in face of an elevated average salt consumption, the use of iodized salt was still insufficient to ensure an adequate iodine intake, in particular among teenagers. In the perspective of a progressive reduction of total salt intake, the health institutions should continue to support iodoprophylaxis, in the context of the national strategies for salt reduction. In order for these policies to be successful, in addition to educational campaigns, it is needed that the prescriptions contained in the current legislation on iodoprophylaxis are made compelling through specific enforcement measures for all the involved stakeholders.
- Published
- 2020
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.