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11. Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

Author

Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P, Campania Rare Disease, Iolascon A, Franzese A, Sanduzzi Zamparelli A, Tessitore A, Romano A, Venosa A, Nunzia Olivieri A, Bianco A, La Manna A, Cerbone AM, Spasiano A, Agnese Stanziola A, Colao A, De Bellis A, Gambale A, Toriello A, Tufano A, Ciampa A, Maria Risitano A, Pisani A, Russo A, Volpe A, De Martino B, Amato B, De Fusco C, Piscopo C, Selleri C, Tucci C, Pignata C, Cioffi D, Melis D, Pasquali D, De Brasi D, Spitaleri D, Russo D, Martellotta D, De Michele E, Varricchio E, Miraglia Del Giudice E, Coscioni E, Cimino E, Pane F, Tranfa F, Pollio F, Lonardo F, Nuzzi F, Simonelli F, Trojsi F, Habetswallner F, Valentini G, Cerbone G, Parenti G, Tedeschi G, Capasso G, Battista Rossi G, Gaglione G, Sarnelli G, Argenziano G, Bellastella G, De Michele G, Fiorentino G, Spadaro G, Scala I, Santoro L, Zeppa L, Auricchio L, Elio Adinolfi L, Alessio M, Amitrano M, Savanelli MC, Russo MG, Ferrucci MG, Carbone MT, Pellecchia MT, Salerno M, Melone M, Del Donno M, Vitale M, Triggiani M, Della Monica M, Lo Presti M, Tenuta M, Mignogna MD, Schiavulli M, Zacchia M, Brunetti-Pierri N, Iovino P, Moscato P, Iandoli R, Scarpa R, Russo R, Troisi S, Sbordone S, Perrotta S, Fecarotta S, Sampaolo S, Cicalese V., Limongelli, Giuseppe, Iucolano, Stefano, Monda, Emanuele, Elefante, Pasquale, De Stasio, Chiara, Lubrano, Imma, Caiazza, Martina, Mazzella, Marialuisa, Fimiani, Fabio, Galdo, Maria, De Marchi, Giulia, Esposito, Martina, Rubino, Marta, Cirillo, Annapaola, Fusco, Adelaide, Esposito, Augusto, Trama, Ugo, Esposito, Salvatore, Scarano, Gioacchino, Sepe, Joseph, Andria, Generoso, Orlando, Valentina, Menditto, Enrica, Chiodini, Paolo, Iolascon, Achille, Franzese, Adriana, Sanduzzi Zamparelli, Alessandro, Tessitore, Alessandro, Romano, Alfonso, Venosa, Alfredo, Nunzia Olivieri, Alma, Bianco, Andrea, La Manna, Angela, Cerbone, Anna Maria, Spasiano, Anna, Agnese Stanziola, Anna, Colao, Annamaria, De Bellis, Annamaria, Gambale, Antonella, Toriello, Antonella, Tufano, Antonella, Ciampa, Antonio, Maria Risitano, Antonio, Pisani, Antonio, Russo, Antonio, Volpe, Antonio, De Martino, Bernardo, Amato, Bruno, De Fusco, Carmela, Piscopo, Carmelo, Selleri, Carmine, Tucci, Celeste, Pignata, Claudio, Cioffi, Daniela, Melis, Daniela, Pasquali, Daniela, De Brasi, Daniele, Spitaleri, Daniele, De Brasi, Davide, Russo, Domenico, Martellotta, Donata, De Michele, Elisa, Varricchio, Elziario, Miraglia Del Giudice, Emanuele, Coscioni, Enrico, Cimino, Ernesto, Pane, Fabrizio, Tranfa, Fausto, Pollio, Filiberto, Lonardo, Fortunato, Nuzzi, Francesca, Simonelli, Francesca, Trojsi, Francesca, Habetswallner, Francesco, Valentini, Gabriele, Cerbone, Gaetana, Parenti, Giancarlo, Tedeschi, Gioacchino, Capasso, Giovambattista, Battista Rossi, Giovanni, Gaglione, Giovanni, Sarnelli, Giovanni, Argenziano, Giuseppe, Bellastella, Giuseppe, De Michele, Giuseppe, Fiorentino, Giuseppe, Spadaro, Giuseppe, Scala, Iri, Santoro, Lucio, Zeppa, Lucio, Auricchio, Luigi, Elio Adinolfi, Luigi, Alessio, Maria, Amitrano, Maria, Savanelli, Maria Cristina, Russo, Maria Giovanna, Ferrucci, Maria Grazia, Carbone, Maria Teresa, Pellecchia, Maria Teresa, Salerno, Mariacarolina, Melone, Marina, Del Donno, Mario, Vitale, Mario, Triggiani, Massimo, Della Monica, Matteo, Lo Presti, Maurizio, Tenuta, Maurizio, Mignogna, Michele Davide, Schiavulli, Michele, Zacchia, Miriam, Brunetti-Pierri, Nicola, Iovino, Paola, Moscato, Paolo, Iandoli, Raffaele, Scarpa, Raffaele, Russo, Romualdo, Troisi, Salvatore, Sbordone, Sandro, Perrotta, Silverio, Fecarotta, Simona, Sampaolo, Simone, Cicalese, Virgilio, Limongelli, G, Iucolano, S, Monda, E, Elefante, P, De Stasio, C, Lubrano, I, Caiazza, M, Mazzella, M, Fimiani, F, Galdo, M, De Marchi, G, Esposito, M, Rubino, M, Cirillo, A, Fusco, A, Esposito, A, Trama, U, Esposito, S, Scarano, G, Sepe, J, Andria, G, Orlando, V, Menditto, E, Chiodini, P, Campania Rare, Disease, Iolascon, A, Franzese, A, Sanduzzi Zamparelli, A, Tessitore, A, Romano, A, Venosa, A, Nunzia Olivieri, A, Bianco, A, La Manna, A, Cerbone, Am, Spasiano, A, Agnese Stanziola, A, Colao, A, De Bellis, A, Gambale, A, Toriello, A, Tufano, A, Ciampa, A, Maria Risitano, A, Pisani, A, Russo, A, Volpe, A, De Martino, B, Amato, B, De Fusco, C, Piscopo, C, Selleri, C, Tucci, C, Pignata, C, Cioffi, D, Melis, D, Pasquali, D, De Brasi, D, Spitaleri, D, Russo, D, Martellotta, D, De Michele, E, Varricchio, E, Miraglia Del Giudice, E, Coscioni, E, Cimino, E, Pane, F, Tranfa, F, Pollio, F, Lonardo, F, Nuzzi, F, Simonelli, F, Trojsi, F, Habetswallner, F, Valentini, G, Cerbone, G, Parenti, G, Tedeschi, G, Capasso, G, Battista Rossi, G, Gaglione, G, Sarnelli, G, Argenziano, G, Bellastella, G, De Michele, G, Fiorentino, G, Spadaro, G, Scala, I, Santoro, L, Zeppa, L, Auricchio, L, Elio Adinolfi, L, Alessio, M, Amitrano, M, Savanelli, Mc, Russo, Mg, Ferrucci, Mg, Carbone, Mt, Pellecchia, Mt, Salerno, M, Melone, M, Del Donno, M, Vitale, M, Triggiani, M, Della Monica, M, Lo Presti, M, Tenuta, M, Mignogna, Md, Schiavulli, M, Zacchia, M, Brunetti-Pierri, N, Iovino, P, Moscato, P, Iandoli, R, Scarpa, R, Russo, R, Troisi, S, Sbordone, S, Perrotta, S, Fecarotta, S, Sampaolo, S, and Cicalese, V.

Subjects
Pediatrics, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Home therapy, rare diseases, 030204 cardiovascular system & hematology, Campania region, Covid-19, Italy, patient registry, Disease Outbreaks, 03 medical and health sciences, COVID-19 Testing, 0302 clinical medicine, Pandemic, Health care, medicine, Retrospective analysis, Humans, AcademicSubjects/MED00860, Registries, 030212 general & internal medicine, Medical diagnosis, Pandemics, Retrospective Studies, business.industry, Public Health, Environmental and Occupational Health, Outbreak, General Medicine, Original Article, business, Delivery of Health Care, Rare disease
Abstract

Background The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period. Methods To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period. Results Prevalence of new diagnoses of rare disease in March and April 2020 was significantly lower than in 2019 (117 versus 317, P Conclusions This study describes the effects of the Covid-19 outbreak on the diagnosis of rare disease in a single Italian region and investigates potential issues of diagnosis and management during this period.

Published
2021

13. Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders

Author

Calogero, A. E., Giagulli, V. A., Mongioì, L. M., Triggiani, V., Radicioni, A. F., Jannini, E. A., Pasquali, D., Balercia, Giancarlo, Bonomi, Marco, Calogero, Aldo E., Corona, Giovanni, Fabbri, Andrea, Ferlin, Alberto, Francavilla, Felice, Giagulli, Vito, Lanfranco, Fabio, Maggi, Mario, Pasquali, Daniela, Pivonello, Rosario, Pizzocaro, Alessandro, Radicioni, Antonio, Rochira, Vincenzo, Vignozzi, Linda, Accardo, Giacomo, Cangiano, Biagio, Condorelli, Rosita A., Cordeschi, Giuliana, D’Andrea, Settimio, Di Mambro, Antonella, Esposito, Daniela, Foresta, Carlo, Francavilla, Sandro, Galdiero, Mariano, Garolla, Andrea, Giovannini, Lara, Granata, Antonio R. M., La Vignera, Sandro, Motta, Giovanna, Negri, Luciano, Pelliccione, Fiore, Persani, Luca, Salzano, Ciro, Santi, Daniele, Selice, Riccardo, Simoni, Manuela, Tatone, Carla, Tirabassi, Giacomo, Tresoldi, Alberto Stefano, Vicari, Enzo, and On behalf of the Klinefelter ItaliaN Group (KING)

Published
2017
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14. Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism

Author

Bonomi, M., Rochira, V., Pasquali, D., Balercia, G., Jannini, E. A., Ferlin, A., Balercia, Giancarlo, Bonomi, Marco, Calogero, Aldo, Corona, Giovanni, Fabbri, Andrea, Ferlin, Alberto, Francavilla, Felice, Giagulli, Vito, Lanfranco, Fabio, Maggi, Mario, Pasquali, Daniela, Pivonello, Rosario, Pizzocaro, Alessandro, Pivonello, Rosario, Radicioni, Antonio, Rochira, Vincenzo, Accardo, Linda, Cangiano, Biagio, Condorelli, Rosita A., Cordeschi, Giuliana, D’Andrea, Settimio, Mambro, Antonella Di, Esposito, Daniela, Foresta, Carlo, Francavilla, Sandro, Galdiero, Mariano, Garolla, Andrea, Giovannini, Lara, Balercia, Antonio R. M., La Vignera, Sandro, Motta, Giovanna, Luciano, Luciano, Pelliccione, Fiore, Persani, Luca, Santi, Daniele, Selice, Riccardo, Simoni, Manuela, Tatone, Carla, Tirabassi, Giacomo, Tresoldi, Alberto Stefano, Vicari, Enzo, and On behalf of the Klinefelter ItaliaN Group (KING)

Published
2017
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23. Neuropsychiatric Aspects in Men with Klinefelter Syndrome

Author

Giagulli, Va, Campone, B, Castellana, M, Salzano, C, Fisher, Ad, de Angelis, C, Pivonello, R, Colao, A, Pasquali, D, Maggi, M, Triggiani, V, Balercia, G, Bonomi, M, Calogero, Ae, Corona, G, Giorgino, F, Fabbri, A, Ferlin, A, Ferrante, E, Francavilla, F, Jannini, E, Lanfranco, F, Pizzocaro, A, Radicioni, A, Rochira, V, Vignozzi, L, Giagulli, Vito Angelo, Capone, Beatrice, Castellana, Marco, Salzano, Ciro, Fisher, Alessandra, de Angelis, Cristina, Pivonello, Rosario, Colao, Annamaria, Pasquali, Daniela, Maggi, Mario, and Triggiani, Vincenzo

Subjects
Male, Klinefelter Syndrome, Hypergonadotropic hypogonadism, testosterone, autism, schizophrenia, attention deficit, hyperactivity disorder, depression, anxiety, Psychosis, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Hypergonadotropic hypogonadism, autism, Comorbidity, Article, 03 medical and health sciences, Klinefelter Syndrome, 0302 clinical medicine, medicine, Humans, Immunology and Allergy, Attention deficit hyperactivity disorder, 030219 obstetrics & reproductive medicine, business.industry, Hypogonadism, Mental Disorders, Brain, medicine.disease, schizophrenia, Phenotype, Schizophrenia, testosterone, depression, attention deficit, hyperactivity disorder, Autism, Anxiety, Klinefelter syndrome, medicine.symptom, business, Neurocognitive, 030217 neurology & neurosurgery
Abstract

Background and objective: Klinefelter Syndrome (KS) is the most common sex chromosome aneuploidy (47, XXY) and cause of male hypergonadotropic hypogonadism. It is characterized by an extreme clinical heterogeneity in presentation, including infertility, hypogonadism, language delay, metabolic comorbidities, and neurocognitive and psychiatric disorders. Since testosterone is known to have organizational, neurotrophic and neuroprotective effects on brain, the condition of primary hypogonadism could play a role. Moreover, given that KS subjects have an additional X, genes on the extra-chromosome could also exert a significant impact. The aim of this narrative review is to analyze the available literature on the relationship between KS and neuropsychiatric disorders.Methods:To extend to the best of published literature on the topic, appropriate keywords and MeSH terms were identified and searched in Pubmed. Finally, references of original articles and reviews were examined.Results:Both morphological and functional studies focusing on the brain showed that there were important differences in brain structure of KS subjects. Different psychiatric disorders such as Schizophrenia, autism, attention deficit hyperactivity disorder, depression and anxiety were frequently reported in KS patients according to a broad spectrum of phenotypes. T supplementation (TRT) was not able to improve the psychotic disorders in KS men with or without overt hypogonadism.Conclusion:Although the risk of psychosis, depression and autism is increased in subjects with KS, no definitive evidence has been found in studies aiming at identifying the relationship between aneuploidy, T deficit and the risk of psychiatric and cognitive disorders in subjects affected by KS.

Published
2019

29. Thyroid function in Klinefelter syndrome: a multicentre study from KING group

Author

Balercia, G., Bonomi, M., Giagulli, V. A., Lanfranco, F., Rochira, V., Giambersio, A., Accardo, G., Esposito, D., Allasia, S., Cangiano, B., De Vincentis, S., Condorelli, R. A., Calogero, A., Pasquali, D., Aversa, A., Corona, G., Giorgino, F., Fabbri, A., Ferlin, A., Ferrante, E., Francavilla, F., Giagulli, V., Jannini, E., Maggi, M., Pivonello, R., Pizzocaro, Anna, Radicioni, A., Vignozzi, L., Barchi, M., Cordeschi, G., D'Andrea, S., Mambro, A. D., Foresta, C., Francavilla, S., Garolla, A., Giovannini, L., Granata, A. R. M., La Vignera, S., Motta, G., Negri, L., Pelliccione, F., Persani, L., Salzano, C., Santi, D., Selice, R., Simoni, M., Tatone, C., Tirabassi, G., Tresoldi, A. S., Vicari, E., Balercia, G., Bonomi, M., Giagulli, V. A., Lanfranco, F., Rochira, V., Giambersio, A., Accardo, G., Esposito, D., Allasia, S., Cangiano, B., De Vincentis, S., Condorelli, R. A., Calogero, A., Pasquali, D., Aversa, A., Corona, G., Giorgino, F., Fabbri, A., Ferlin, A., Ferrante, E., Francavilla, F., Giagulli, V., Jannini, E., Maggi, M., Pivonello, R., Pizzocaro, A., Radicioni, A., Vignozzi, L., Barchi, M., Cordeschi, G., D'Andrea, S., Mambro, A. D., Foresta, C., Francavilla, S., Garolla, A., Giovannini, L., Granata, A. R. M., La Vignera, S., Motta, G., Negri, L., Pelliccione, F., Persani, L., Salzano, C., Santi, D., Selice, R., Simoni, M., Tatone, C., Tirabassi, G., Tresoldi, A. S., and Vicari, E.

Subjects
Adult, Male, endocrine system, Pediatrics, medicine.medical_specialty, Hashimoto’s thyroiditi, Adolescent, endocrine system diseases, Kallmann syndrome, Thyroid hormones, Endocrinology, Diabetes and Metabolism, Thyroid Gland, Hypergonadotropic hypogonadism, Thyrotropin, 030209 endocrinology & metabolism, Hashimoto Disease, Thyroid Function Tests, Thyroiditis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Hypogonadotropic hypogonadism, medicine, Humans, Testosterone, Klinefelter syndrome, Aged, Academic Medical Centers, business.industry, Hypogonadism, Thyroid, Hashimoto’s thyroiditis, Middle Aged, Thyroid disease, medicine.disease, Thyroid diseases, medicine.anatomical_structure, Italy, Case-Control Studies, 030220 oncology & carcinogenesis, Concomitant, Female, Thyroid function, business
Abstract

Purpose: The prevalence and the etiopathogenesis of thyroid dysfunctions in Klinefelter syndrome (KS) are still unclear. The primary aim of this study was to evaluate the pathogenetic role of hypogonadism in the thyroid disorders described in KS, with the scope to distinguish between patients with KS and hypogonadism due to other causes (Kallmann syndrome, idiopathic hypogonadotropic hypogonadism, iatrogenic hypogonadism and acquired hypogonadotropic hypogonadism after surgical removal of pituitary adenomas) called non-KS. Therefore, we evaluated thyroid function in KS and in non-KS hypogonadal patients. Methods: This is a case–control multicentre study from KING group: Endocrinology clinics in university-affiliated medical centres. One hundred and seventy four KS, and sixty-two non-KS hypogonadal men were enrolled. The primary outcome was the prevalence of thyroid diseases in KS and in non-KS. Changes in hormonal parameters were evaluated. Exclusion criterion was secondary hypothyroidism. Analyses were performed using Student’s t test. Mann–Whitney test and Chi-square test. Results: FT4 was significantly lower in KS vs non-KS. KS and non-KS presented similar TSH and testosterone levels. Hashimoto’s thyroiditis (HT) was diagnosed in 7% of KS. Five KS developed hypothyroidism. The ratio FT3/FT4 was similar in both groups. TSH index was 1.9 in KS and 2.3 in non-KS. Adjustment for differences in age, sample size and concomitant disease in multivariate models did not alter the results. Conclusions: We demonstrated in KS no etiopathogenic link to hypogonadism or change in the set point of thyrotrophic control in the altered FT4 production. The prevalence of HT in KS was similar to normal male population, showing absence of increased risk of HT associated with the XXY karyotype.

Published
2019

30. Drains influence on the beach groundwater hydrodynamics

Author

Fischione, P., Celli, D., Pasquali, D., and Di Risio, M.

Subjects
beach drainage, fine porous medium, numerical modelling, coastal groundwater dynamics, beach drainage, coastal groundwater dynamics, fine porous medium, numerical modelling
Published
2020

35. Quality of life in Klinefelter patients on testosterone replacement therapy compared to healthy controls: an observational study on the impact of psychological distress, personality traits, and coping strategies

Author

Fabrazzo, M., primary, Accardo, G., additional, Abbondandolo, I., additional, Goglia, G., additional, Esposito, D., additional, Sampogna, G., additional, Catapano, F., additional, Giugliano, D., additional, and Pasquali, D., additional

Published
2020
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37. BROX haploinsufficiency in familial nonmedullary thyroid cancer

Author

Pasquali, D., primary, Torella, A., additional, Accardo, G., additional, Esposito, D., additional, Del Vecchio Blanco, F., additional, Salvatore, D., additional, Sabatino, P., additional, Pacini, F., additional, Barbato, F., additional, Castagna, M. G., additional, Cantara, S., additional, and Nigro, V., additional

Published
2020
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40. Characteristics, geographical distribution and age at diagnosis of patients with Klinefelter Syndrome in Italy: a cohort study from the Klinefelter Italian Group (KING)

Author

Pasquali, D., Garolla, A., Accardo, G., Chiodini, P., Simeon, V., Ferlin, A., Maggi, M., Vignozzi, L., Corona, G., Lanfranco, F., Rochira, V., Calogero, A., Giagulli, V., Bonomi, M., Pivonello, R., Balercia, G., Pizzocaro, A., Salacone, P., and Aversa, A.

Subjects
Klinefelter, Klinefelter, diagnosis, cohort study, diagnosis, cohort study
Published
2019

43. Stima dello spettro direzionale del moto ondoso tramite ricevitori GPS installati a bordo di uno yacht a vela in navigazione oceanica

Author

DE GIROLAMO P., ROMANO A., CASTELLINO M., DI RISIO M., BELLOTTI G., PASQUALI D., FRANCO L., CRESPI M., MAZZONI A., SAMMARCO P., DE GIROLAMO P., ROMANO A.,CASTELLINO M., DI RISIO M., BELLOTTI G., PASQUALI D., FRANCO L.,CRESPI M., MAZZONI A., SAMMARCO P.., DE GIROLAMO, P., Romano, A., Castellino, M., DI RISIO, M., Bellotti, G., Pasquali, D., Franco, L., Crespi, M., Mazzoni, A., and Sammarco, P.

Published
2016

47. The role of submerged berms on the wave actions on rubble mound breakwaters

Author

Celli, D., Pasquali, D., De Girolamo, P., and Di Risio, M.

Subjects
wave action, Rubble mound breakwater, numerical modelling, experimental modelling, armor stability, Rubble mound breakwater, submerged berms, wave action, armor stability, numerical modelling, experimental modelling, submerged berms
Published
2018

50. Thyroid dysfunction and Klinefelter Syndrome: a multicenter study from the KING group

Author

Balercia, G., Bonomi, M., Giagulli, V., Lanfranco, F., Rochira, V., Giambersio, A., Accardo, G., Allasia, S., Cangiano, B., De Vincentis, S., Esposito, D., Giugliano, D., Pasquali, D., and on behalf of the Klinefelter ItaliaN Group, (KING).

Subjects
Klinefelter Syndrome, thyroid function, TSH, testosterone, Klinefelter Syndrome, 47XXY, thyroid function, TSH, testosterone, 47XXY
Published
2018

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