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2. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Author

Dharmayat, Kanika Inamdar, Vallejo-Vaz, Antonio J., Stevens, Christophe A.T., Brandts, Julia M., Lyons, Alexander R.M., Groselj, Urh, Abifadel, Marianne, Aguilar-Salinas, Carlos A., Alhabib, Khalid, Alkhnifsawi, Mutaz, Almahmeed, Wael, Alnouri, Fahad, Alonso, Rodrigo, Al-Rasadi, Khalid, Ashavaid, Tester F., Banach, Maciej, Béliard, Sophie, Binder, Christoph, Bourbon, Mafalda, Chlebus, Krzysztof, Corral, Pablo, Cruz, Diogo, Descamps, Olivier S., Drogari, Euridiki, Durst, Ronen, Ezhov, Marat V., Genest, Jacques, Harada-Shiba, Mariko, Holven, Kirsten B., Humphries, Steve E., Khovidhunkit, Weerapan, Lalic, Katarina, Laufs, Ulrich, Liberopoulos, Evangelos, Roeters van Lennep, Jeanine, Lima-Martinez, Marcos Miguel, Lin, Jie, Maher, Vincent, März, Winfried, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah, Panayiotou, Andrie G., Paragh, György, Postadzhiyan, Arman, Reda, Ashraf, Reiner, Željko, Reyes, Ximena, Sadiq, Fouzia, Sahebkar, Amirhossein, Schunkert, Heribert, Shek, Aleksandr B., Stroes, Eric, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey, Vázquez Cárdenas, Alejandra, Huong Truong, Thanh, Tselepis, Alexandros D., Vohnout, Branislav, Wang, Luya, Yamashita, Shizuya, Al-Sarraf, Ahmad, Al-Sayed, Nasreen, Davletov, Kairat, Dwiputra, Bambang, Gaita, Dan, Kayikcioglu, Meral, Latkovskis, Gustavs, Marais, A. David, Thushara Matthias, Anne, Mirrakhimov, Erkin, Nordestgaard, Børge G., Petrulioniene, Zaneta, Pojskic, Belma, Sadoh, Wilson, Tilney, Myra, Tomlinson, Brian, Tybjærg-Hansen, Anne, Viigimaa, Margus, Catapano, Alberico L., Freiberger, Tomas, Hovingh, G. Kees, Mata, Pedro, Soran, Handrean, Raal, Frederick, Watts, Gerald F., Schreier, Laura, Bañares, Virginia, Greber-Platzer, Susanne, Baumgartner-Kaut, Margot, de Gier, Charlotte, Dieplinger, Hans, Höllerl, Florian, Innerhofer, Reinhold, Karall, Daniela, Lischka, Julia, Ludvik, Bernhard, Mäser, Martin, Scholl-Bürgi, Sabine, Thajer, Alexandra, Toplak, Hermann, Demeure, Fabian, Mertens, Ann, Balligand, Jean-Luc, Stephenne, Xavier, Sokal, Etienne, Petrov, Ivo, Goudev, Assen, Nikolov, Fedya, Tisheva, Snejana, Yotov, Yoto, Tzvetkov, Ivajlo, Hegele, Robert A, Gaudet, Daniel, Brunham, Liam, Ruel, Isabelle, McCrindle, Brian, Cuevas, Ada, Perica, Dražen, Symeonides, Phivos, Trogkanis, Efstratios, Kostis, Andreas, Ioannou, Andreas, Mouzarou, Angeliki, Georgiou, Anthoula, Stylianou, Andreas, Miltiadous, George, Iacovides, Paris, Deltas, Constantinos, Vrablik, Michal, Urbanova, Zuzana, Jesina, Pavel, Tichy, Lukas, Hyanek, Josef, Dvorakova, Jana, Cepova, Jana, Sykora, Josef, Buresova, Kristyna, Pipek, Michal, Pistkova, Eva, Bartkova, Ivana, S|ulakova, Astrid, Toukalkova, Lenka, Spenerova, Michaela, Maly, Jan, Benn, Marianne, Bendary, Ahmed, Elbahry, Atef, Ferrières, Jean, Ferrieres, Dorota, Peretti, Noel, Bruckert, Eric, Gallo, Antonio, Valero, René, Mourre, Florian, Aouchiche, Karine, Reynaud, Rachel, Tounian, Patrick, Lemale, Julie, Boccara, Franck, Moulin, Philippe, Charrières, Sybil, Di Filippo, Mathilde, Cariou, Bertrand, Paillard, François, Dourmap, Caroline, Pradignac, Alain, Verges, Bruno, Simoneau, Isabelle, Farnier, Michel, Cottin, Yves, Yelnik, Cecile, Hankard, Regis, Schiele, François, Durlach, Vincent, Sultan, Ariane, Carrié, Alain, Rabès, Jean-Pierre, Sanin, Veronika, Schmieder, Raphael S., Ates, Sara, Rizos, Christos V., Skoumas, Ioannis, Tziomalos, Konstantinos, Rallidis, Loukianos, Kotsis, Vasileios, Doumas, Michalis, Skalidis, Emmanouil, Kolovou, Genovefa, Kolovou, Vana, Garoufi, Anastasia, Koutagiar, Iosif, Polychronopoulos, Georgios, Kiouri, Estela, Antza, Christina, Zacharis, Evangelos, Attilakos, Achilleas, Sfikas, George, Koumaras, Charalambos, Anagnostis, Panagiotis, Anastasiou, Georgia, Liamis, George, Adamidis, Petros-Spyridon, Milionis, Haralambos, Lambadiari, Vaia, Stabouli, Stella, Filippatos, Theodosios, Mollaki, Vicky, Tsaroumi, Anastasia, Lamari, Frida, Proyias, Pavlos, Harangi, Mariann, Reddy, Lakshmi Lavanya, Shah, Swarup A. V, Ponde, Chandrashekhar K., Dalal, Jamshed J., Sawhney, Jitendra P.S., Verma, Ishwar C., Hosseini, Susan, Jamialahmadi, Tannaz, Alareedh, Mohammed, Shaghee, Foaad, Rhadi, Sabah Hasan, Abduljalal, Maryam, Alfil, Sarmad, Kareem, Huda, Cohen, Hofit, Leitersdorf, Eran, Schurr, Daniel, Shpitzen, Shoshi, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Casula, Manuela, Galimberti, Federica, Gazzotti, Marta, Olmastroni, Elena, Sarzani, Riccardo, Ferri, Claudio, Repetti, Elena, Giorgino, Francesco, Suppressa, Patrizia, Bossi, Antonio Carlo, Borghi, Claudio, Muntoni, Sandro, Cipollone, Francesco, Scicali, Roberto, Pujia, Arturo, Passaro, Angelina, Berteotti, Martina, Pecchioli, Valerio, Pisciotta, Livia, Mandraffino, Giuseppe, Pellegatta, Fabio, Mombelli, Giuliana, Branchi, Adriana, Fiorenza, Anna Maria, Pederiva, Cristina, Werba, José Pablo, Parati, Gianfranco, Nascimbeni, Fabio, Iughetti, Lorenzo, Fortunato, Giuliana, Cavallaro, Raimondo, Iannuzzo, Gabriella, Calabrò, Paolo, Cefalù, Angelo Baldassare, Capra, Maria Elena, Zambon, Alberto, Pirro, Matteo, Sbrana, Francesco, Trenti, Chiara, Minicocci, Ilenia, Federici, Massimo, Del Ben, Maria, Buonuomo, Paola Sabrina, Moffa, Simona, Pipolo, Antonio, Citroni, Nadia, Guardamagna, Ornella, Lia, Salvatore, Benso, Andrea, Biolo, Gianni Biolo, Maroni, Lorenzo, Lupi, Alessandro, Bonanni, Luca, Rinaldi, Elisabetta, Zenti, Maria Grazia, Masuda, Daisaku, Mahfouz, Linda, Jambart, Selim, Ayoub, Carine, Ghaleb, Youmna, Kasim, Noor Alicezah Mohd, Nor, Noor Shafina Mohd, Al-Khateeb, Alyaa, Kadir, Siti Hamimah Sheikh Abdul, Chua, Yung-An, Razman, Aimi Zafira, Nazli, Sukma Azureen, Ranai, Norashikin Mohd, Latif, Ahmad Zubaidi Abd, Torres, María Teresa Magaña, Mehta, Roopa, Martagon, Alexandro J., Ramirez, Gabriela A. Galan, Antonio-Villa, Neftali Eduardo, Vargas-Vazquez, Arsenio, Elias-Lopez, Daniel, Retana, Gustavo Gonzalez, Encinas, Bethsabel Rodrıguez, Macıas, Jose J. Ceballos, Zazueta, Alejandro Romero, Alvarado, Rocio Martinez, Portano, Julieta D. Morales, Lopez, Humberto Alvares, Sauque-Reyna, Leobardo, Gomez Herrera, Laura G., Simental Mendia, Luis E., Aguilar, Humberto Garcia, Cooremans, Elizabeth Ramirez, Aparicio, Berenice Pe~na, Zubieta, Victoria Mendoza, Gonzalez, Perla A. Carrillo, Ferreira-Hermosillo, Aldo, Portilla, Nacu Caracas, Dominguez, Guadalupe Jimenez, Garcia, Alinna Y. Ruiz, Arriaga Cazares, Hector E., Gonzalez Gonzalez, Jesus R., Mendez Valencia, Carla V., Padilla Padilla, Francisco G., Prado, Ramon Madriz, De los Rios Ibarra, Manuel O., Arjona Villica~na, Ruy D., Acevedo Rivera, Karina J., Carrera, Ricardo Allende, Alvarez, Jose A., Amezcua Martinez, Jose C., Barrera Bustillo, Manuel de los Reyes, Vargas, Gonzalo Carazo, Chacon, Roberto Contreras, Figueroa Andrade, Mario H., Ortega, Ashanty Flores, Alcala, Hector Garcia, Garcia de Leon, Laura E., Guzman, Berenice Garcia, Gardu~no Garcia, Jose J., Garnica Cuellar, Juan C., Gomez Cruz, Jose R., Garcia, Anell Hernandez, Holguin Almada, Jesus R., Herrera, Ursulo Juarez, Sobrevilla, Fabiola Lugo, Rodriguez, Eduardo Marquez, Sibaja, Cristina Martinez, Medrano Rodriguez, Alma B., Morales Oyervides, Jose C., Perez Vazquez, Daniel I., Reyes Rodriguez, Eduardo A., Osorio, Ma. Ludivina Robles, Saucedo, Juan Rosas, Tamayo, Margarita Torres, Valdez Talavera, Luis A., Vera Arroyo, Luis E., Zepeda Carrillo, Eloy A., Galema-Boers, Annette, Weigman, Albert, Bogsrud, Martin P., Malik, Munir, Shah, Saeedullah, Khan, Sabeen Abid, Rana, Muhammad Asim, Batool, Hijab, Starostecka, Ewa, Konopka, Agnieszka, Lewek, Joanna, Bielecka-Dąbrowa, Agata, Gach, Agnieszka, Jóźwiak, Jacek, Pajkowski, Marcin, Romanowska-Kocejko, Marzena, Żarczyńska-Buchowiecka, Marta, Hellmann, Marcin, Chmara, Magdalena, Wasąg, Bartosz, Parczewska, Aleksandra, Gilis-Malinowska, Natasza, Borowiec-Wolna, Justyna, Stróżyk, Aneta, Michalska-Grzonkowska, Aleksandra, Chlebus, Izabela, Kleinschmidt, Mariola, Wojtecka, Agnieszka, Zdrojewski, Tomasz, Myśliwiec, Małgorzata, Hennig, Matylda, Medeiros, Ana Margarida, Alves, Ana Catarina, Almeida, Ana Filipa, Lopes, Andreia, Guerra, António, Bilhoto, Carla, Simões, Fernando, Silva, Francisco, Lobarinhas, Goreti, Gama, Guida, Palma, Isabel, Salgado, José Miguel, Matos, Luísa Diogo, Moura, Márcio de, Virtuoso, Maria João, Tavares, Mónica, Ferreira, Patrícia, Pais, Patrícia, Garcia, Paula, Coelho, Raquel, Ribeiro, Raquel, Correia, Susana, Sadykova, Dinara, Slastnikova, Evgenia, Alammari, Dalal, Mawlawi, Horia Ahmed, Alsahari, Atif, Khudary, Alia Abdullah, Alrowaily, Nawal Lafi, Rajkovic, Natasa, Popovic, Ljiljana, Singh, Sandra, Rasulic, Iva, Petakov, Ana, Lalic, Nebojsa M., Peng, Fabian Kok, Vasanwala, Rashida Farhan, Venkatesh, Sreedharan Aravind, Raslova, Katarina, Fabryova, Lubomira, Nociar, Jan, Šaligova, Jana, Potočňáková, Ludmila, Kozárová, Miriam, Varga, Tibor, Kadurova, Michaela, Debreova, Marianna, Novodvorsky, Peter, Gonova, Katarina, Klabnik, Alexander, Buganova, Ingrid, Battelino, Tadej, Bizjan, Barbara Jenko, Debeljak, Marusa, Kovac, Jernej, Mlinaric, Matej, Molk, Neza, Sikonja, Jaka, Sustar, Ursa, Podkrajsek, Katarina Trebusak, Muñiz-Grijalvo, Ovidio, Díaz-Díaz, Jose Luis, de Andrés, Raimundo, Fuentes-Jiménez, Francisco, Blom, Dirk, Miserez, Eleonore B., Shipton, Janine L., Ganokroj, Poranee, Futema, Marta, Ramaswami, Uma, Alieva, Rano B., Fozilov, Khurshid G., Khoshimov, Shavkat U., Nizamov, Ulugbek I., Abdullaeva, Guzal J., Kan, Liliya E., Abdullaev, Alisher A., Zakirova, Daria V., Do, Doan-Loi, Nguyen, Mai-Ngoc-Thi, Kim, Ngoc-Thanh, Le, Thanh-Tung, Le, Hong-An, Santos, Raul, and Ray, Kausik K.

Published
2024
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3. Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study

Author

Anesi, Adriano, Arca, Marcello, Auricchio, Renata, Averna, Maurizio, Baldera, Davide, Banderali, Giuseppe, Beccuti, Guglielmo, Benso, Andrea, Berteotti, Martina, Bertolini, Stefano, Bianconi, Vanessa, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Bruzzi, Patrizia, Bucci, Marco, Buonuomo, Paola Sabrina, Calabrò, Paolo, Calandra, Sebastiano, Carubbi, Francesca, Cavallaro, Raimondo, Cefalù, Angelo Baldassarre, Cesaro, Arturo, Cipollone, Francesco, Citroni, Nadia, Colombo, Emanuela, Coppola, Chiara, D'Addato, Sergio, Dal Pino, Beatrice, Dalla Nora, Edoardo, De Corrado, Giuseppe, Del Ben, Maria, Di Molfetta, Sergio, Di Taranto, Maria Donata, Fainelli, Giulia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Formisano, Elena, Fortunato, Giuliana, Giaccari, Andrea, Giorgino, Francesco, Grigore, Liliana, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iannuzzo, Gabriella, Iughetti, Lorenzo, Lia, Salvatore, Longo, Susanna, Lupi, Alessandro, Mandraffino, Giuseppe, Marcucci, Rossella, Maroni, Lorenzo, Massini, Giulia, Mazza, Elisa, Melchioda, Elena, Meregalli, Giancarla, Minicocci, Ilenia, Moffa, Simona, Mombelli, Giuliana, Muntoni, Sandro, Nascimbeni, Fabio, Negri, Emanuele Alberto, Notargiacomo, Serena, Panfili, Filippo Maria, Parati, Gianfranco, Passaro, Angelina, Pavanello, Chiara, Pecchioli, Valerio, Pecchioli, Lorenzo, Pellegatta, Fabio, Perla, Francesco Massimo, Pipolo, Antonio, Piro, Salvatore, Pirro, Matteo, Pisciotta, Livia, Pujia, Roberta, Putotto, Carolina, Repetti, Elena, Rinaldi, Elisabetta, Romandini, Alessandra, Sani, Elena, Sarnari, Silvia, Sarzani, Riccardo, Sbrana, Francesco, Scicali, Roberto, Scuruchi, Michele, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, Vinci, Pierandrea, Werba, José Pablo, Zambon, Sabina, Zambon, Alberto, Zenti, Maria Grazia, Casula, Manuela, Gazzotti, Marta, Capra, Maria Elena, Olmastroni, Elena, Galimberti, Federica, Catapano, Alberico L., and Pederiva, Cristina

Published
2023
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6. Pediatric acute-onset neuropsychiatric syndrome and pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections: a delphi study and consensus document about definition, diagnostic criteria, treatment and follow-up.

Author

Grandinetti, Roberto, Mussi, Nicole, Pilloni, Simone, Ramundo, Greta, Miniaci, Angela, Turco, Emanuela, Piccolo, Benedetta, Capra, Maria Elena, Forestiero, Roberta, Laudisio, Serena, Boscarino, Giovanni, Pedretti, Laura, Menoni, Martina, Pellino, Giuditta, Tagliani, Silvia, Bergomi, Andrea, Antodaro, Francesco, Cantù, Maria Cristina, Bersini, Maria Teresa, and Mari, Sandra

Subjects
STREPTOCOCCAL diseases, DELPHI method, OBSESSIVE-compulsive disorder, NEUROBEHAVIORAL disorders, CHILD patients
Abstract

Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections (PANDAS) and Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) are broad diagnoses that encompass a range of sudden-onset neuropsychiatric symptoms in children, which can include obsessive-compulsive disorder (OCD), tics, anxiety, emotional instability, and cognitive difficulties. Unlike PANDAS, PANS is not strictly linked to group A streptococcal infections but can be triggered by various infectious or environmental factors. Lights and shadows remain upon the management of children with PANS and PANDAS and there is no clear consensus regarding definition, diagnostic criteria, treatment, and follow-up. The aim of the present study was to evaluate the level of agreement on PANS and PANDAS definition, diagnostic criteria, treatment and follow-up and to assess on the basis of recent studies whether there is a need to modify the current recommendations used by primary care pediatricians and hospital pediatricians in clinical practice in order to improve outcomes. Using the Delphi method, this consensus provides shared indications on PANS and PANDAS management in pediatric age, based on the most updated literature. This work represents, in our opinion, the most complete and up-to-date information on the diagnosis of PANS and PANDAS, as well as consensus statements about several aspects of clinical care. Undoubtedly, more randomized and controlled trials are needed in the pediatric population to better define the best management, also in terms of adequate follow-up examinations and period of observation. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Complementary Feeding in the Clinical Practice: An Exploratory Survey among Italian Primary Care Pediatricians.

Author

Capra, Maria Elena, Decarolis, Nicola Mattia, Stanyevic, Brigida, Giudice, Antonella, Monopoli, Delia, Neglia, Cosimo, Ramundo, Greta, Esposito, Susanna, and Biasucci, Giacomo

Abstract

Introduction: Complementary feeding (CF) is the process of introducing solid or liquid foods (complementary foods, CFs) other than human breast milk (HBM) or infant formula into infants' diet when HBM or infant formula is no longer sufficient to meet infants' nutritional needs. Primary care pediatricians (PCPs) are paramount in guiding and educating infants' families during CF. Materials and Methods: Our exploratory survey aimed to investigate PCPs' current clinical approach to managing CF. From 1 March 2024 to 30 April 2024, a digital questionnaire composed of 32 multiple-choice questions investigating PCPs' attitudes toward CF in healthy, full-term infants was proposed to 1620 PCPs contacted through scientific societies. Results: The questionnaire was completed voluntarily; 707 PCPs (79.5% female, 66.1% aged over 50 years) fully responded to the survey in the proposed timeframe (participation rate 43.6%). Among the responders, 47.5% recommended traditional CF; 42.1% declared to know the baby-led weaning (BLW) approach and on-demand CF (ODCF), but only 32.8% and 12.5% of them recommended these types of CF, respectively. The vast majority (95%) of participants recommended that CF start between 4 to 6 completed months of age. CF routinely based on vegetarian or plant-based diets was supported by 45/707 (6.1%), only if planned by a specialist by 253/707 (35.8%), and only upon request by caregivers by 257/707 (36.3%). Egg and fish introduction was mostly advised in the first year of life, although in case of a positive family history of food allergy, 13.3% of participants recommended the introduction of egg and fish after 12 months. Conclusions: In conclusion, PCPs did not display a homogenous approach to CF; further studies and educational programs are needed to achieve more flexibility and knowledge on this important nutritional issue. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Complementary Feeding: Tradition, Innovation and Pitfalls

Author

Capra, Maria Elena, primary, Decarolis, Nicola Mattia, additional, Monopoli, Delia, additional, Laudisio, Serena Rosa, additional, Giudice, Antonella, additional, Stanyevic, Brigida, additional, Esposito, Susanna, additional, and Biasucci, Giacomo, additional

Published
2024
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9. Lipoprotein(a) in Children and Adolescents: Risk or Causal Factor for Cardiovascular Disease? A Narrative Review.

Author

Capra, Maria Elena, Biasucci, Giacomo, Banderali, Giuseppe, and Pederiva, Cristina

Subjects
*CARDIOVASCULAR diseases risk factors, *CHILD patients, *ISCHEMIC stroke, *VASCULAR diseases, *STROKE
Abstract

The evaluation of serum Lp(a) values in childhood and adolescence has been widely debated, and in the last few years, many authors have tried to better define Lp(a) role in atherosclerosis pathogenesis, starting from childhood. In our narrative review, we have evaluated the main historical stages of Lp(a) studies in childhood, trying to focus on pathogenic mechanisms linked to elevated serum Lp(a) values, starting from ischemic stroke and vascular damage, and to its possible direct involvement in premature atherosclerosis from childhood onwards. Historic manuscripts on Lp(a) in pediatric patients have mainly focused on serum Lp(a) values and increased stroke risk. More recently, many studies have evaluated Lp(a) as a coronary vascular disease (CVD) risk factor starting from childhood, especially related to a positive family history of premature CVD. Finally, only a few studies evaluated the role of Lp(a) in premature atherosclerotic processes and endothelial and vascular damage in pediatric patients. Lastly, we have hypothesized a future perspective, with the hope that plasma Lp(a) levels will be treated with a tailored pharmacologic approach, and Lp(a) will become a precocious therapeutic target to control the atherosclerotic pathways from the first years of life. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Nutrition for Children and Adolescents Who Practice Sport: A Narrative Review.

Author

Capra, Maria Elena, Stanyevic, Brigida, Giudice, Antonella, Monopoli, Delia, Decarolis, Nicola Mattia, Esposito, Susanna, and Biasucci, Giacomo

Abstract

At a developmental age, adequate physical activity is fundamental to overall health and well-being and preventing obesity. Moreover, establishing active behavior can help children and adolescents meet their growth and neurodevelopmental goals. Nutritional requirements vary according to intensity, frequency, and practiced physical activity or sport; therefore, pediatricians should give children and adolescents and their families adequate counseling, avoiding both nutrient deficiencies and excessive or inadequate supplement intake. The focus should be not only on sports performance but also on the child's well-being, growth, and neurodevelopment. Our narrative review aims to discuss the nutritional needs of children and adolescents who practice physical activity, non-competitive sports activity, and elite sports activity while also analyzing the role of food supplements and the risk of eating disorders within this category of subjects. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Author

Dharmayat, Kanika Inamdar, primary, Vallejo-Vaz, Antonio J., additional, Stevens, Christophe A.T., additional, Brandts, Julia M., additional, Lyons, Alexander R.M., additional, Groselj, Urh, additional, Abifadel, Marianne, additional, Aguilar-Salinas, Carlos A., additional, Alhabib, Khalid, additional, Alkhnifsawi, Mutaz, additional, Almahmeed, Wael, additional, Alnouri, Fahad, additional, Alonso, Rodrigo, additional, Al-Rasadi, Khalid, additional, Ashavaid, Tester F., additional, Banach, Maciej, additional, Béliard, Sophie, additional, Binder, Christoph, additional, Bourbon, Mafalda, additional, Chlebus, Krzysztof, additional, Corral, Pablo, additional, Cruz, Diogo, additional, Descamps, Olivier S., additional, Drogari, Euridiki, additional, Durst, Ronen, additional, Ezhov, Marat V., additional, Genest, Jacques, additional, Harada-Shiba, Mariko, additional, Holven, Kirsten B., additional, Humphries, Steve E., additional, Khovidhunkit, Weerapan, additional, Lalic, Katarina, additional, Laufs, Ulrich, additional, Liberopoulos, Evangelos, additional, Roeters van Lennep, Jeanine, additional, Lima-Martinez, Marcos Miguel, additional, Lin, Jie, additional, Maher, Vincent, additional, März, Winfried, additional, Miserez, André R., additional, Mitchenko, Olena, additional, Nawawi, Hapizah, additional, Panayiotou, Andrie G., additional, Paragh, György, additional, Postadzhiyan, Arman, additional, Reda, Ashraf, additional, Reiner, Željko, additional, Reyes, Ximena, additional, Sadiq, Fouzia, additional, Sahebkar, Amirhossein, additional, Schunkert, Heribert, additional, Shek, Aleksandr B., additional, Stroes, Eric, additional, Su, Ta-Chen, additional, Subramaniam, Tavintharan, additional, Susekov, Andrey, additional, Vázquez Cárdenas, Alejandra, additional, Huong Truong, Thanh, additional, Tselepis, Alexandros D., additional, Vohnout, Branislav, additional, Wang, Luya, additional, Yamashita, Shizuya, additional, Al-Sarraf, Ahmad, additional, Al-Sayed, Nasreen, additional, Davletov, Kairat, additional, Dwiputra, Bambang, additional, Gaita, Dan, additional, Kayikcioglu, Meral, additional, Latkovskis, Gustavs, additional, Marais, A. David, additional, Thushara Matthias, Anne, additional, Mirrakhimov, Erkin, additional, Nordestgaard, Børge G., additional, Petrulioniene, Zaneta, additional, Pojskic, Belma, additional, Sadoh, Wilson, additional, Tilney, Myra, additional, Tomlinson, Brian, additional, Tybjærg-Hansen, Anne, additional, Viigimaa, Margus, additional, Catapano, Alberico L., additional, Freiberger, Tomas, additional, Hovingh, G. Kees, additional, Mata, Pedro, additional, Soran, Handrean, additional, Raal, Frederick, additional, Watts, Gerald F., additional, Schreier, Laura, additional, Bañares, Virginia, additional, Greber-Platzer, Susanne, additional, Baumgartner-Kaut, Margot, additional, de Gier, Charlotte, additional, Dieplinger, Hans, additional, Höllerl, Florian, additional, Innerhofer, Reinhold, additional, Karall, Daniela, additional, Lischka, Julia, additional, Ludvik, Bernhard, additional, Mäser, Martin, additional, Scholl-Bürgi, Sabine, additional, Thajer, Alexandra, additional, Toplak, Hermann, additional, Demeure, Fabian, additional, Mertens, Ann, additional, Balligand, Jean-Luc, additional, Stephenne, Xavier, additional, Sokal, Etienne, additional, Petrov, Ivo, additional, Goudev, Assen, additional, Nikolov, Fedya, additional, Tisheva, Snejana, additional, Yotov, Yoto, additional, Tzvetkov, Ivajlo, additional, Hegele, Robert A, additional, Gaudet, Daniel, additional, Brunham, Liam, additional, Ruel, Isabelle, additional, McCrindle, Brian, additional, Cuevas, Ada, additional, Perica, Dražen, additional, Symeonides, Phivos, additional, Trogkanis, Efstratios, additional, Kostis, Andreas, additional, Ioannou, Andreas, additional, Mouzarou, Angeliki, additional, Georgiou, Anthoula, additional, Stylianou, Andreas, additional, Miltiadous, George, additional, Iacovides, Paris, additional, Deltas, Constantinos, additional, Vrablik, Michal, additional, Urbanova, Zuzana, additional, Jesina, Pavel, additional, Tichy, Lukas, additional, Hyanek, Josef, additional, Dvorakova, Jana, additional, Cepova, Jana, additional, Sykora, Josef, additional, Buresova, Kristyna, additional, Pipek, Michal, additional, Pistkova, Eva, additional, Bartkova, Ivana, additional, S|ulakova, Astrid, additional, Toukalkova, Lenka, additional, Spenerova, Michaela, additional, Maly, Jan, additional, Benn, Marianne, additional, Bendary, Ahmed, additional, Elbahry, Atef, additional, Ferrières, Jean, additional, Ferrieres, Dorota, additional, Peretti, Noel, additional, Bruckert, Eric, additional, Gallo, Antonio, additional, Valero, René, additional, Mourre, Florian, additional, Aouchiche, Karine, additional, Reynaud, Rachel, additional, Tounian, Patrick, additional, Lemale, Julie, additional, Boccara, Franck, additional, Moulin, Philippe, additional, Charrières, Sybil, additional, Di Filippo, Mathilde, additional, Cariou, Bertrand, additional, Paillard, François, additional, Dourmap, Caroline, additional, Pradignac, Alain, additional, Verges, Bruno, additional, Simoneau, Isabelle, additional, Farnier, Michel, additional, Cottin, Yves, additional, Yelnik, Cecile, additional, Hankard, Regis, additional, Schiele, François, additional, Durlach, Vincent, additional, Sultan, Ariane, additional, Carrié, Alain, additional, Rabès, Jean-Pierre, additional, Sanin, Veronika, additional, Schmieder, Roland, additional, Ates, Sara, additional, Rizos, Christos V., additional, Skoumas, Ioannis, additional, Tziomalos, Konstantinos, additional, Rallidis, Loukianos, additional, Kotsis, Vasileios, additional, Doumas, Michalis, additional, Skalidis, Emmanouil, additional, Kolovou, Genovefa, additional, Kolovou, Vana, additional, Garoufi, Anastasia, additional, Koutagiar, Iosif, additional, Polychronopoulos, Georgios, additional, Kiouri, Estela, additional, Antza, Christina, additional, Zacharis, Evangelos, additional, Attilakos, Achilleas, additional, Sfikas, George, additional, Koumaras, Charalambos, additional, Anagnostis, Panagiotis, additional, Anastasiou, Georgia, additional, Liamis, George, additional, Adamidis, Petros-Spyridon, additional, Milionis, Haralambos, additional, Lambadiari, Vaia, additional, Stabouli, Stella, additional, Filippatos, Theodosios, additional, Mollaki, Vicky, additional, Tsaroumi, Anastasia, additional, Lamari, Frida, additional, Proyias, Pavlos, additional, Harangi, Mariann, additional, Reddy, Lakshmi Lavanya, additional, Shah, Swarup A. V, additional, Ponde, Chandrashekhar K., additional, Dalal, Jamshed J., additional, Sawhney, Jitendra P.S., additional, Verma, Ishwar C., additional, Hosseini, Susan, additional, Jamialahmadi, Tannaz, additional, Alareedh, Mohammed, additional, Shaghee, Foaad, additional, Rhadi, Sabah Hasan, additional, Abduljalal, Maryam, additional, Alfil, Sarmad, additional, Kareem, Huda, additional, Cohen, Hofit, additional, Leitersdorf, Eran, additional, Schurr, Daniel, additional, Shpitzen, Shoshi, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Casula, Manuela, additional, Galimberti, Federica, additional, Gazzotti, Marta, additional, Olmastroni, Elena, additional, Sarzani, Riccardo, additional, Ferri, Claudio, additional, Repetti, Elena, additional, Giorgino, Francesco, additional, Suppressa, Patrizia, additional, Bossi, Antonio Carlo, additional, Borghi, Claudio, additional, Muntoni, Sandro, additional, Cipollone, Francesco, additional, Scicali, Roberto, additional, Pujia, Arturo, additional, Passaro, Angelina, additional, Berteotti, Martina, additional, Pecchioli, Valerio, additional, Pisciotta, Livia, additional, Mandraffino, Giuseppe, additional, Pellegatta, Fabio, additional, Mombelli, Giuliana, additional, Branchi, Adriana, additional, Fiorenza, Anna Maria, additional, Pederiva, Cristina, additional, Werba, José Pablo, additional, Parati, Gianfranco, additional, Nascimbeni, Fabio, additional, Iughetti, Lorenzo, additional, Fortunato, Giuliana, additional, Cavallaro, Raimondo, additional, Iannuzzo, Gabriella, additional, Calabrò, Paolo, additional, Cefalù, Angelo Baldassare, additional, Capra, Maria Elena, additional, Zambon, Alberto, additional, Pirro, Matteo, additional, Sbrana, Francesco, additional, Trenti, Chiara, additional, Minicocci, Ilenia, additional, Federici, Massimo, additional, Del Ben, Maria, additional, Buonuomo, Paola Sabrina, additional, Moffa, Simona, additional, Pipolo, Antonio, additional, Citroni, Nadia, additional, Guardamagna, Ornella, additional, Lia, Salvatore, additional, Benso, Andrea, additional, Biolo, Gianni Biolo, additional, Maroni, Lorenzo, additional, Lupi, Alessandro, additional, Bonanni, Luca, additional, Rinaldi, Elisabetta, additional, Zenti, Maria Grazia, additional, Masuda, Daisaku, additional, Mahfouz, Linda, additional, Jambart, Selim, additional, Ayoub, Carine, additional, Ghaleb, Youmna, additional, Kasim, Noor Alicezah Mohd, additional, Nor, Noor Shafina Mohd, additional, Al-Khateeb, Alyaa, additional, Kadir, Siti Hamimah Sheikh Abdul, additional, Chua, Yung-An, additional, Razman, Aimi Zafira, additional, Nazli, Sukma Azureen, additional, Ranai, Norashikin Mohd, additional, Latif, Ahmad Zubaidi Abd, additional, Torres, María Teresa Magaña, additional, Mehta, Roopa, additional, Martagon, Alexandro J., additional, Ramirez, Gabriela A. Galan, additional, Antonio-Villa, Neftali Eduardo, additional, Vargas-Vazquez, Arsenio, additional, Elias-Lopez, Daniel, additional, Retana, Gustavo Gonzalez, additional, Encinas, Bethsabel Rodriguez, additional, Macias, Jose J. Ceballos, additional, Zazueta, Alejandro Romero, additional, Alvarado, Rocio Martinez, additional, Portano, Julieta D. Morales, additional, Lopez, Humberto Alvares, additional, Sauque-Reyna, Leobardo, additional, Gomez Herrera, Laura G., additional, Simental Mendia, Luis E., additional, Aguilar, Humberto Garcia, additional, Cooremans, Elizabeth Ramirez, additional, Aparicio, Berenice Pe~na, additional, Zubieta, Victoria Mendoza, additional, Gonzalez, Perla A. Carrillo, additional, Ferreira-Hermosillo, Aldo, additional, Portilla, Nacu Caracas, additional, Dominguez, Guadalupe Jimenez, additional, Garcia, Alinna Y. Ruiz, additional, Arriaga Cazares, Hector E., additional, Gonzalez Gonzalez, Jesus R., additional, Mendez Valencia, Carla V., additional, Padilla Padilla, Francisco G., additional, Prado, Ramon Madriz, additional, De los Rios Ibarra, Manuel O., additional, Arjona Villica~na, Ruy D., additional, Acevedo Rivera, Karina J., additional, Carrera, Ricardo Allende, additional, Alvarez, Jose A., additional, Amezcua Martinez, Jose C., additional, Barrera Bustillo, Manuel de los Reyes, additional, Vargas, Gonzalo Carazo, additional, Chacon, Roberto Contreras, additional, Figueroa Andrade, Mario H., additional, Ortega, Ashanty Flores, additional, Alcala, Hector Garcia, additional, Garcia de Leon, Laura E., additional, Guzman, Berenice Garcia, additional, Gardu~no Garcia, Jose J., additional, Garnica Cuellar, Juan C., additional, Gomez Cruz, Jose R., additional, Garcia, Anell Hernandez, additional, Holguin Almada, Jesus R., additional, Herrera, Ursulo Juarez, additional, Sobrevilla, Fabiola Lugo, additional, Rodriguez, Eduardo Marquez, additional, Sibaja, Cristina Martinez, additional, Medrano Rodriguez, Alma B., additional, Morales Oyervides, Jose C., additional, Perez Vazquez, Daniel I., additional, Reyes Rodriguez, Eduardo A., additional, Osorio, Ma. Ludivina Robles, additional, Saucedo, Juan Rosas, additional, Tamayo, Margarita Torres, additional, Valdez Talavera, Luis A., additional, Vera Arroyo, Luis E., additional, Zepeda Carrillo, Eloy A., additional, Galema-Boers, Annette, additional, Weigman, Albert, additional, Bogsrud, Martin P., additional, Malik, Munir, additional, Shah, Saeedullah, additional, Khan, Sabeen Abid, additional, Rana, Muhammad Asim, additional, Batool, Hijab, additional, Starostecka, Ewa, additional, Konopka, Agnieszka, additional, Lewek, Joanna, additional, Bielecka-Dąbrowa, Agata, additional, Gach, Agnieszka, additional, Jóźwiak, Jacek, additional, Pajkowski, Marcin, additional, Romanowska-Kocejko, Marzena, additional, Żarczyńska-Buchowiecka, Marta, additional, Hellman, Marcin, additional, Chmara, Magdalena, additional, Wasąg, Bartosz, additional, Parczewska, Aleksandra, additional, Gilis-Malinowska, Natasza, additional, Borowiec-Wolna, Justyna, additional, Stróżyk, Aneta, additional, Michalska-Grzonkowska, Aleksandra, additional, Chlebus, Izabela, additional, Kleinschmidt, Mariola, additional, Wojtecka, Agnieszka, additional, Zdrojewski, Tomasz, additional, Myśliwiec, Małgorzata, additional, Hennig, Matylda, additional, Medeiros, Ana Margarida, additional, Alves, Ana Catarina, additional, Almeida, Ana Filipa, additional, Lopes, Andreia, additional, Guerra, António, additional, Bilhoto, Carla, additional, Simões, Fernando, additional, Silva, Francisco, additional, Lobarinhas, Goreti, additional, Gama, Guida, additional, Palma, Isabel, additional, Salgado, José Miguel, additional, Matos, Luísa Diogo, additional, Moura, Márcio de, additional, Virtuoso, Maria João, additional, Tavares, Mónica, additional, Ferreira, Patrícia, additional, Pais, Patrícia, additional, Garcia, Paula, additional, Coelho, Raquel, additional, Ribeiro, Raquel, additional, Correia, Susana, additional, Sadykova, Dinara, additional, Slastnikova, Evgenia, additional, Alammari, Dalal, additional, Mawlawi, Horia Ahmed, additional, Alsahari, Atif, additional, Khudary, Alia Abdullah, additional, Alrowaily, Nawal Lafi, additional, Rajkovic, Natasa, additional, Popovic, Ljiljana, additional, Singh, Sandra, additional, Rasulic, Iva, additional, Petakov, Ana, additional, Lalic, Nebojsa M., additional, Peng, Fabian Kok, additional, Vasanwala, Rashida Farhan, additional, Venkatesh, Sreedharan Aravind, additional, Raslova, Katarina, additional, Fabryova, Lubomira, additional, Nociar, Jan, additional, Šaligova, Jana, additional, Potočňáková, Ludmila, additional, Kozárová, Miriam, additional, Varga, Tibor, additional, Kadurova, Michaela, additional, Debreova, Marianna, additional, Novodvorsky, Peter, additional, Gonova, Katarina, additional, Klabnik, Alexander, additional, Buganova, Ingrid, additional, Battelino, Tadej, additional, Bizjan, Barbara Jenko, additional, Debeljak, Marusa, additional, Kovac, Jernej, additional, Mlinaric, Matej, additional, Molk, Neza, additional, Sikonja, Jaka, additional, Sustar, Ursa, additional, Podkrajsek, Katarina Trebusak, additional, Muñiz-Grijalvo, Ovidio, additional, Díaz-Díaz, Jose Luis, additional, de Andrés, Raimundo, additional, Fuentes-Jiménez, Francisco, additional, Blom, Dirk, additional, Miserez, Eleonore B., additional, Shipton, Janine L., additional, Ganokroj, Poranee, additional, Futema, Marta, additional, Ramaswami, Uma, additional, Alieva, Rano B., additional, Fozilov, Khurshid G., additional, Khoshimov, Shavkat U., additional, Nizamov, Ulugbek I., additional, Abdullaeva, Guzal J., additional, Kan, Liliya E., additional, Abdullaev, Alisher A., additional, Zakirova, Daria V., additional, Do, Doan-Loi, additional, Nguyen, Mai-Ngoc-Thi, additional, Kim, Ngoc-Thanh, additional, Le, Thanh-Tung, additional, Le, Hong-An, additional, Santos, Raul, additional, and Ray, Kausik K., additional

Published
2023
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15. Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study

Author

Casula, Manuela, primary, Gazzotti, Marta, additional, Capra, Maria Elena, additional, Olmastroni, Elena, additional, Galimberti, Federica, additional, Catapano, Alberico L., additional, Pederiva, Cristina, additional, Anesi, Adriano, additional, Arca, Marcello, additional, Auricchio, Renata, additional, Averna, Maurizio, additional, Baldera, Davide, additional, Banderali, Giuseppe, additional, Beccuti, Guglielmo, additional, Benso, Andrea, additional, Berteotti, Martina, additional, Bertolini, Stefano, additional, Bianconi, Vanessa, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Bruzzi, Patrizia, additional, Bucci, Marco, additional, Buonuomo, Paola Sabrina, additional, Calabrò, Paolo, additional, Calandra, Sebastiano, additional, Carubbi, Francesca, additional, Cavallaro, Raimondo, additional, Cefalù, Angelo Baldassarre, additional, Cesaro, Arturo, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Colombo, Emanuela, additional, Coppola, Chiara, additional, D'Addato, Sergio, additional, Dal Pino, Beatrice, additional, Dalla Nora, Edoardo, additional, De Corrado, Giuseppe, additional, Del Ben, Maria, additional, Di Molfetta, Sergio, additional, Di Taranto, Maria Donata, additional, Fainelli, Giulia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Formisano, Elena, additional, Fortunato, Giuliana, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Grigore, Liliana, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iannuzzo, Gabriella, additional, Iughetti, Lorenzo, additional, Lia, Salvatore, additional, Longo, Susanna, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Maroni, Lorenzo, additional, Massini, Giulia, additional, Mazza, Elisa, additional, Melchioda, Elena, additional, Meregalli, Giancarla, additional, Minicocci, Ilenia, additional, Moffa, Simona, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Nascimbeni, Fabio, additional, Negri, Emanuele Alberto, additional, Notargiacomo, Serena, additional, Panfili, Filippo Maria, additional, Parati, Gianfranco, additional, Passaro, Angelina, additional, Pavanello, Chiara, additional, Pecchioli, Valerio, additional, Pecchioli, Lorenzo, additional, Pellegatta, Fabio, additional, Perla, Francesco Massimo, additional, Pipolo, Antonio, additional, Piro, Salvatore, additional, Pirro, Matteo, additional, Pisciotta, Livia, additional, Pujia, Roberta, additional, Putotto, Carolina, additional, Repetti, Elena, additional, Rinaldi, Elisabetta, additional, Romandini, Alessandra, additional, Sani, Elena, additional, Sarnari, Silvia, additional, Sarzani, Riccardo, additional, Sbrana, Francesco, additional, Scicali, Roberto, additional, Scuruchi, Michele, additional, Suppressa, Patrizia, additional, Tarugi, Patrizia, additional, Trenti, Chiara, additional, Vinci, Pierandrea, additional, Werba, José Pablo, additional, Zambon, Sabina, additional, Zambon, Alberto, additional, and Zenti, Maria Grazia, additional

Published
2023
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17. Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

Author

Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico Luigi, Tarugi, Patrizia, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Lupi, Alessandro, Mandraffino, Giuseppe, Marcucci, Rossella, Maroni, Lorenzo, Miccoli, Roberto, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbà, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josè Pablo, Zambon, Sabina, Zenti, Maria Grazia, Minicocci, Ilenia, Noto, Davide, Fortunato, Giuliana, Banderali, Giuseppe, Benso, Andrea, Bigolin, Paola, Bonora, Enzo, Bruzzi, Patrizia, Bucci, Marco, Buonuomo, Paola Sabrina, Capra, Maria Elena, Cardolini, Iris, Cefalù, Baldassarre, Cervelli, Nazzareno, Chiariello, Giuseppe, Cocci, Guido, Colombo, Emanuela, Cremonini, Anna Laura, D'Addato, Sergio, D'Erasmo, Laura, Dal Pino, Beatrice, De Sanctis, Luisa, De Vita, Emanuele, Del Ben, Maria, Di Costanzo, Alessia, Di Taranto, Maria Donata, Fasano, Tommaso, Gentile, Luigi, Gentile, Marco, Ghirardello, Omar, Grigore, Liliana, Lussu, Milena, Meregalli, Giancarla, Moffa, Simona, Montalcini, Tiziana, Morgia, Valeria, Nascimbeni, Fabio, Pasta, Andrea, Pavanello, Chiara, Saitta, Antonino, Scicali, Roberto, Siepi, Donatella, Spagnolli, Walter, Spina, Rossella, Sticchi, Elena, Suppressa, Patrizia, Vigo, Lorenzo, Vinci, Pierandrea, Casula, Manuela, Manzato, Enzo, Olmastroni, Elena, Tragni, Elena, Zampoleri, Veronica, and Pirillo, Angela

Published
2018
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18. Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

Author

Olmastroni, Elena, primary, Gazzotti, Marta, additional, Averna, Maurizio, additional, Arca, Marcello, additional, Tarugi, Patrizia, additional, Calandra, Sebastiano, additional, Bertolini, Stefano, additional, Catapano, Alberico L., additional, Casula, Manuela, additional, D’Erasmo, Laura, additional, Cefalù, Angelo Baldassare, additional, Bartuli, Andrea, additional, Buonuomo, Paola Sabrina, additional, Benso, Andrea, additional, Beccuti, Guglielmo, additional, Biasucci, Giacomo, additional, Capra, Maria Elena, additional, Biolo, Gianni, additional, Vinci, Pierandrea, additional, Bonanni, Luca, additional, Borghi, Claudio, additional, D’Addato, Sergio, additional, Bossi, Antonio Carlo, additional, Meregalli, Giancarla, additional, Branchi, Adriana, additional, Calabrò, Paolo, additional, Carubbi, Francesca, additional, Nascimbeni, Fabio, additional, Cipollone, Francesco, additional, Bucci, Marco, additional, Citroni, Nadia, additional, Del Ben, Maria, additional, Baratta, Francesco, additional, Federici, Massimo, additional, Montagna, Martina, additional, Ferri, Claudio, additional, Notargiacomo, Serena, additional, Fiorenza, Anna Maria, additional, Colombo, Emanuela, additional, Fortunato, Giuliana, additional, Di Taranto, Maria Donata, additional, Giaccari, Andrea, additional, Moffa, Simona, additional, Giorgino, Francesco, additional, Di Molfetta, Sergio, additional, Guardamagna, Ornella, additional, De Sanctis, Luisa, additional, Iannuzzi, Arcangelo, additional, Cavallaro, Raimondo, additional, Iannuzzo, Gabriella, additional, Gentile, Marco, additional, Iughetti, Lorenzo, additional, Bruzzi, Patrizia, additional, Lia, Salvatore, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Toscano, Arianna, additional, Marcucci, Rossella, additional, Berteotti, Martina, additional, Maroni, Lorenzo, additional, Locatelli, Fabiana, additional, Montalcini, Tiziana, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Baldera, Davide, additional, Parati, Gianfranco, additional, Passaro, Angelina, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Banderali, Giuseppe, additional, Pipolo, Antonio, additional, D’Elia, Debora, additional, Pirro, Matteo, additional, Bianconi, Vanessa, additional, Pisciotta, Livia, additional, Formisano, Elena, additional, Purrello, Francesco, additional, Scicali, Roberto, additional, Repetti, Elena, additional, Cantino, Elena, additional, Rinaldi, Elisabetta, additional, Sani, Elena, additional, Sarzani, Riccardo, additional, Spannella, Francesco, additional, Sbrana, Francesco, additional, Dal Pino, Beatrice, additional, Suppressa, Patrizia, additional, Cocco, Veronica, additional, Trenti, Chiara, additional, Negri, Emanuele Alberto, additional, Werba, Josè Pablo, additional, Romandini, Alessandra, additional, Zambon, Sabina, additional, Zambon, Alberto, additional, Zenti, Maria Grazia, additional, Fainelli, Giulia, additional, Pellegatta, Fabio, additional, Grigore, Liliana, additional, Bonomo, Katia, additional, Capatti, Eleonora, additional, Cutolo, Ada, additional, Fimiani, Fabio, additional, Genovesi, Simonetta, additional, Inchiostro, Sandro, additional, Pavanello, Chiara, additional, Pujia, Roberta, additional, Schaffer, Alon, additional, Catapano, Alberico Luigi, additional, Olmastroni, Elena, additional, and Galimberti, Federica, additional

Published
2023
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20. Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric Group

Author

Pederiva, C, Gazzotti, M, Arca, M, Averna, M, Banderali, G, Biasucci, G, Brambilla, M, Buonuomo, P, Calabrò, P, Cipollone, F, Citroni, N, D'Addato, S, Del Ben, M, Genovesi, S, Guardamagna, O, Iannuzzo, G, Iughetti, L, Mandraffino, G, Maroni, L, Mombelli, G, Muntoni, S, Nascimbeni, F, Passaro, A, Pellegatta, F, Pirro, M, Pisciotta, L, Pujia, R, Sarzani, R, Scicali, R, Suppressa, P, Zambon, S, Zenti, M, Calandra, S, Catapano, A, Tarugi, P, Galimberti, F, Casula, M, Capra, M, Pederiva, Cristina, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Banderali, Giuseppe, Biasucci, Giacomo, Brambilla, Marta, Buonuomo, Paola Sabrina, Calabrò, Paolo, Cipollone, Francesco, Citroni, Nadia, D'Addato, Sergio, Del Ben, Maria, Genovesi, Simonetta, Guardamagna, Ornella, Iannuzzo, Gabriella, Iughetti, Lorenzo, Mandraffino, Giuseppe, Maroni, Lorenzo, Mombelli, Giuliana, Muntoni, Sandro, Nascimbeni, Fabio, Passaro, Angelina, Pellegatta, Fabio, Pirro, Matteo, Pisciotta, Livia, Pujia, Roberta, Sarzani, Riccardo, Scicali, Roberto, Suppressa, Patrizia, Zambon, Sabina, Zenti, Maria Grazia, Calandra, Sebastiano, Catapano, Alberico Luigi, Tarugi, Patrizia, Galimberti, Federica, Casula, Manuela, Capra, Maria Elena, Pederiva, C, Gazzotti, M, Arca, M, Averna, M, Banderali, G, Biasucci, G, Brambilla, M, Buonuomo, P, Calabrò, P, Cipollone, F, Citroni, N, D'Addato, S, Del Ben, M, Genovesi, S, Guardamagna, O, Iannuzzo, G, Iughetti, L, Mandraffino, G, Maroni, L, Mombelli, G, Muntoni, S, Nascimbeni, F, Passaro, A, Pellegatta, F, Pirro, M, Pisciotta, L, Pujia, R, Sarzani, R, Scicali, R, Suppressa, P, Zambon, S, Zenti, M, Calandra, S, Catapano, A, Tarugi, P, Galimberti, F, Casula, M, Capra, M, Pederiva, Cristina, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Banderali, Giuseppe, Biasucci, Giacomo, Brambilla, Marta, Buonuomo, Paola Sabrina, Calabrò, Paolo, Cipollone, Francesco, Citroni, Nadia, D'Addato, Sergio, Del Ben, Maria, Genovesi, Simonetta, Guardamagna, Ornella, Iannuzzo, Gabriella, Iughetti, Lorenzo, Mandraffino, Giuseppe, Maroni, Lorenzo, Mombelli, Giuliana, Muntoni, Sandro, Nascimbeni, Fabio, Passaro, Angelina, Pellegatta, Fabio, Pirro, Matteo, Pisciotta, Livia, Pujia, Roberta, Sarzani, Riccardo, Scicali, Roberto, Suppressa, Patrizia, Zambon, Sabina, Zenti, Maria Grazia, Calandra, Sebastiano, Catapano, Alberico Luigi, Tarugi, Patrizia, Galimberti, Federica, Casula, Manuela, and Capra, Maria Elena

Abstract

Detection and treatment of patients with familial hypercholesterolemia (FH) starting from childhood is fundamental to reduce morbidity and mortality. The activity of National realities such as the LIPIGEN (LIpid transPort disorders Italian GEnetic Network) Paediatric Group, founded in 2018, is a milestone in this context. The aim of this exploratory survey, conducted in October 2021 among Italian lipid clinics included in the LIPIGEN Paediatric Group, was to investigate the current clinical approach in the management and treatment of paediatric patients with suspected FH. A digital questionnaire composed of 20 questions investigating nutritional treatment and nutraceutical and pharmacological therapy for children and adolescents with FH was proposed to the principal investigators of 30 LIPIGEN centres. Twenty-four centres responded to the section referring to children aged < 10 years and 30 to that referring to adolescents. Overall, 66.7% of children and 73.3% of adolescents were given lipid-lowering nutritional treatment as the first intervention level for at least 3–4 months (29.2% and 23.3%) or 6–12 months (58.3% and 53.3%). Nutraceuticals were considered in 41.7% (regarding children) and 50.0% (regarding adolescents) of the centres as a supplementary approach to diet. Lipid-lowering drug therapy initiation was mainly recommended (91.7% and 80.0%). In 83.3% of children and 96.7% of adolescents, statins were the most frequently prescribed drug. We highlighted several differences in the treatment of paediatric patients with suspected FH among Italian centres; however, the overall approach is in line with the European Atherosclerosis Society (EAS) recommendations for FH children and adolescents. We consider this survey as a starting point to reinforce collaboration between LIPIGEN centres and to elaborate in the near future a consensus document on the management of paediatric patients with suspected FH so as to improve and uniform detection, management, and treat

Published
2023

24. Antibiotic Prophylaxis for the Prevention of Urinary Tract Infections in Children: Guideline and Recommendations from the Emilia-Romagna Pediatric Urinary Tract Infections (UTI-Ped-ER) Study Group

Author

Autore, Giovanni, Bernardi, Luca, Ghidini, Filippo, La Scola, Claudio, Berardi, Alberto, Biasucci, Giacomo, Marchetti, Federico, Pasini, Andrea, Capra, Maria Elena, Castellini, Claudia, Cioni, Vera, Cantatore, Sante, Cella, Andrea, Cusenza, Francesca, De Fanti, Alessandro, Della Casa Muttini, Elisa, Di Costanzo, Margherita, Dozza, Alessandra, Gatti, Claudia, Malaventura, Cristina, Pierantoni, Luca, Parente, Giovanni, Pelusi, Gabriella, Perrone, Serafina, Serra, Laura, Torcetta, Francesco, Valletta, Enrico, Vergine, Gianluca, Antodaro, Francesco, Bergomi, Andrea, Chiarlolanza, Jennifer, Leoni, Laura, Mazzini, Franco, Sacchetti, Roberto, Suppiej, Agnese, Iughetti, Lorenzo, Pession, Andrea, Lima, Mario, and Esposito, Susanna

Published
2023

25. Pediatric Headache in Primary Care and Emergency Departments: Consensus with RAND/UCLA Method

Author

Prezioso, Giovanni, Suppiej, Agnese, Alberghini, Valentina, Bergonzini, Patrizia, Capra, Maria Elena, Corsini, Ilaria, De Fanti, Alessandro, Fiumana, Elisa, Fornaro, Martina, Marangio, Lucia, Ricciardelli, Paolo, Serra, Laura, Cordelli, Duccio Maria, Esposito, Susanna, The Emilia-Romagna Headache Study Group, null, Prezioso, Giovanni, Suppiej, Agnese, Alberghini, Valentina, Bergonzini, Patrizia, Capra, Maria Elena, Corsini, Ilaria, De Fanti, Alessandro, Fiumana, Elisa, Fornaro, Martina, Marangio, Lucia, Ricciardelli, Paolo, Serra, Laura, Cordelli, Duccio Maria, Esposito, Susanna, and The Emilia-Romagna Headache Study Group, null

Subjects
prophylaxi, Paleontology, Socio-culturale, General Biochemistry, Genetics and Molecular Biology, RAND/UCLA appropriateness method, red flags, Space and Planetary Science, migraine, prophylaxis, headache, pediatric headache, acute therapy, Ecology, Evolution, Behavior and Systematics
Abstract

Headache is the most frequent neurological symptom in childhood and the main reason for admission to pediatric emergency departments. The aim of this consensus document is to define a shared clinical pathway between primary care pediatricians (PCP) and hospitals for the management of children presenting with headache. For the purposes of the study, a group of hospital pediatricians and a group of PCP from the Emilia Romagna’s health districts were selected to achieve consensus using the RAND/UCLA appropriateness method. Thirty-nine clinical scenarios were developed: for each scenario, participants were asked to rank the appropriateness of each option from 1 to 9. Agreement was reached if ≥75% of participants ranked within the same range of appropriateness. The answers, results, and discussion helped to define the appropriateness of procedures with a low level of evidence regarding different steps of the diagnostic-therapeutic process: primary care evaluation, emergency department evaluation, hospital admission, acute therapy, prophylaxis, and follow-up. The RAND proved to be a valid method to value appropriateness of procedures and define a diagnostic-therapeutic pathway suitable to the local reality in the management of pediatric headache. From our results, some useful recommendations were developed for optimizing the healthcare professionals’ network among primary care services and hospitals.

Published
2022

26. Dietary Models and Cardiovascular Risk Prevention in Pediatric Patients.

Author

Capra, Maria Elena, Monopoli, Delia, Decarolis, Nicola Mattia, Guidice, Antonella, Stanyevic, Brigida, Esposito, Susanna, and Biasucci, Giacomo

Abstract

Nutritional intervention is worldwide recognized as a first step treatment for subjects with increased cardiovascular risk and it is of utmost importance especially for children and adolescents. Currently scientific evidence supports the role of dietary patterns instead of simple single nutrients or foods in cardiovascular risk prevention. Indeed, the American Heart Association dietary guidelines have expanded beyond nutrients to dietary pattern, that comprise not only single food items but also behavioral or cultural habits of specific populations. The aim of our narrative review is to analyze the most frequently adopted dietary patterns in children and adolescents and to evaluate their effect on cardiovascular risk factors and in cardiovascular risk prevention. Literature review showed that children cannot be considered as little adults: nutritional intervention must always grant adequate growth and neurodevelopment before reaching the proposed goals, therefore dietary patterns considered heart-healthy for adult subjects might not be suitable for pediatric patients. Mediterranean diet, DASH diet, Nordic diet and some plant-based diets seem to be the most promising dietary patterns in terms of cardiovascular health in the developmental age, even if further studies are needed to better standardize and analyze their effect on growing up individuals. [ABSTRACT FROM AUTHOR]

Published
2023
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27. The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group

Author

Gazzotti, Marta, Casula, Manuela, Bertolini, Stefano, Capra, Maria Elena, Olmastroni, Elena, Catapano, Alberico Luigi, Pederiva, Cristina, and the LIPIGEN Pediatric Group: Massimiliano Allevi, Internal Medicine and Geriatrics, Department of Clinical and Molecular Sciences, University 'Politecnica delle Marche' and IRCCS-INRCA, Ancona, Italy, Marcello, Arca, Dipartimento di Medicina Traslazionale, e di Precisione, O Policlinico Umberto I, Sapienza Università di Roma—A. U., Rome, Italy, Renata, Auricchio, Dipartimento di Scienze Mediche Traslazionali, AOU Policlinico Federico II, Naples, Italy, Averna, Maurizio, Dipartimento di Promozione della Salute, Materno-Infantile, di Medicina Interna, e Specialistica di Eccellenza, Università degli Studi di Palermo, Palermo, Italy, Davide, Baldera, Dipartimento di Scienze Biomediche, Università degli Studi di Cagliari and Centro per le Malattie Dismetaboliche, e l’Arteriosclerosi, Onlus Cagliari, Associazione ME. DI. CO., Cagliari, Italy, Giuseppe, Banderali, Clinica Pediatrica, U. O., Servizio Clinico Dislipidemie per lo Studio, e la Prevenzione dell’Aterosclerosi in età Pediatrica, ASSTSanti Paolo, e Carlo, Milan, Italy, Andrea, Bartuli, UOC Malattie Rare, e Genetica Medica, Ospedale Pediatrico Bambino Gesù, Irccs, Rome, Italy, Stefano, Bertolini, Department of Internal Medicine, University of Genova, Genova, Italy, Giacomo, Biasucci, Centro Dislipidemie in Età Evolutiva, Pediatria e Neonatologia, U. O., Ospedale Guglielmo da Saliceto, Piacenza, Italy, Claudio, Borghi, di Medicina Interna Cardiovascolare, U. O., Centro, Aterosclerosi, Ambulatorio, Dislipidemie, Orsola-Malpighi, IRCCS S. Orsola Ospedale Policlinico S., Bologna, Italy, Patrizia, Bruzzi, Pediatria, U. O. C., Azienda Ospedaliero Universitaria di Modena, Modena, Italy, Raffaele, Buganza, Paediatric, Endocrinology, Department of Public Health and Paediatric Sciences, Turin, University, Turin, Italy, Paola Sabrina Buonuomo, Paolo, Calabrò, U. O. C. Cardiologia Clinica a Direzione Universitaria e U. T. I. C., 'Sant’Anna e San Sebastiano', A. O. R. N., Italy and Dipartimento di Scienze Mediche Traslazionali, Università degli Studi della Campania, Sebastiano, Calandra, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Maria Elena Capra, Francesca, Carubbi, Medicina interna metabolica, U. O., Centro dislipidemie, e malattie metaboliche rare, Ospedale Civile Baggiovara, AOU di Modena, Manuela, Casula, Dipartimento di Scienze Farmacologiche, e Biomolecolari, Università degli Studi di Milano, and IRCCS MultiMedica, Sesto San Giovanni (Milan), Alberico Luigi Catapano, Arturo, Cesaro, Università degli Studi della Campania 'Luigi Vanvitelli', Francesco, Cipollone, Clinica, Medica, Centro di riferimento regionale per le Dislipidemie, Annunziata, Ospedale Policlinico S. S., Chieti, Italy, Nadia, Citroni, Centro Dislipidemie, e Aterosclerosi, UOC Medicina Interna, Ospedale di Trento, Trento, Italy, Giuseppe, Covetti, Medicina Interna 2, U. O., Centro per le malattie da arteriosclerosi, Aorn, Cardarelli, Annalaura, Cremonini, IRCCS Ospedale policlinico San Martino UOSD Dietetica, e Nutrizione Clinica and Dipartimento di Medicina Interna, Università di Genova, Sergio, D’Addato, Maria Del Ben, Dipartimento Scienze Cliniche, Internistiche, Anestesiologiche e Cardiovascolari, - Sapienza Università, Policlinico Umberto I, A. O., Maria Donata Di Taranto, Dipartimento di Medicina Molecolare, e Biotecnologie Mediche, Università degli studi di Napoli Federico II and CEINGE Biotecnologie Avanzate, s. c. a. r. l., Giuliana, Fortunato, Roberto, Franceschi, Uoc, Pediatria, Federica, Galimberti, Irccs, Multimedica, Marta, Gazzotti, Fondazione SISA (Società Italiana per lo Studio dell’Aterosclerosi), Simonetta, Genovesi, IRCCS Istituto Auxologico Italiano and Dipartimento di Medicina, e Chirurgia, Università di Milano- Bicocca, Antonina, Giammanco, Liliana, Grigore, Centro per lo Studio dell’Aterosclerosi, Italy and Centro per lo Studio dell’Aterosclerosi, Bassini, Ospedale E., Cinisello, Balsamo, Ornella, Guardamagna, Arcangelo, Iannuzzi, Gabriella, Iannuzzo, Dipartimento di Medicina Clinica, e Chirurgia, Centro Coordinamento regionale per le Iperlipidemie, Lidia Lascala, AOU Mater Domini, Fabiana, Locatelli, Ambulatorio ipertensione dislipidemie rischio cardiovascolare, ASST Valle Olona, Ospedale di Gallarate, Gallarate, Italy, Ospedale di Busto Arsizio, Busto, Arsizio, Lorenzo, Iughetti, Sara, Madaghiele, Frugoni' and Centro di Assistenza e Ricerca Malattie Rare, U. O. di Medicina Interna e Geriatria 'C., Universitaria Policlinico Consorziale, A. O., Università degli Studi di Bari 'Aldo Moro', Bari, Italy, Giuseppe, Mandraffino, Martino, Department of Clinical and Experimental Medicine—Lipid Center—University Hospital G., Messina, Italy, Massimo Raffaele Mannarino, Internal, Medicine, University of Perugia, Angiology and Arteriosclerosis Diseases. Department of Medicine and Surgery., Perugia, Italy, Bucci, Marco, Lorenzo, Maroni, Ilenia, Minicocci, Giuliana, Mombelli, Centro Dislipidemie ASST Grande Ospedale Metropolitano Niguarda, Sandro, Muntoni, Fabio, Nascimbeni, Elena, Olmastroni, Servizio di Epidemiologia, e Farmacologia Preventiva (SEFAP), Dipartimento di Science Farmacologiche, e Biomolecolari, Gianfranco, Parati, Università di Milano-Bicocca, Angelina, Passaro, Department of Translational Medicine, University of Ferrara, Italy and Research and Innovation Section, University Hospital of Ferrara Arcispedale Sant’Anna, Chiara, Pavanello, Milan, Italy and Centro Grossi Paoletti, Milano, Italy, Cristina, Pederiva, ASST-Santi Paolo, e Carlo, Fabio, Pellegatta, Francesco Massimo Perla, Dipartimento Materno Infantile, e Scienze Urologiche—Sapienza Università, Medicina, Generale, Ospedale di Trecenta, Trecenta, Rovigo, Matteo, Pirro, Livia, Pisciotta, Arturo, Pujia, Mater Domini, A. O. U., UOC di Nutrizione Clinica, Purrello, Francesco, Department of Clinical and Experimental Medicine, University of Catania, Ospedale, Garibaldi, Catania, Italy, Elisabetta, Rinaldi, Endocrinologia, U. O., Diabetologia, e Malattie del Metabolismo, Universitaria Integrata di Verona, Centro regionale specializzato per la diagnosi e terapia delle dislipidemie e aferesi terapeutica and A. O., Verona, Italy, Riccardo, Sarzani, Scicali, Roberto, Patrizia, Suppressa, Patrizia, Tarugi, Department of Life Sciences, Sabrina, Verachtert, Giovanni Battista Vigna, Josè Pablo Werba, Ambulatorio Prevenzione Aterosclerosi, U. O., IRCCS Centro Cardiologico Monzino, Alberto, Zambon, Dipartimento di Medicina, Università di Padova, Padua, Italy, Sabina, Zambon, Maria Grazia Zenti, Servizio di Diabetologia, e Malattie Metaboliche, Pederzoli, Ospedale P., Peschiera del Garda, and Verona, Italy.

Subjects
genetic diagnosis, clinical diagnosis, familial hypercholesterolemia, cardiovascular genetics, pathology register, pediatric cohort, Settore BIO/14 - Farmacologia, Genetics, Molecular Medicine, Genetics (clinical)
Abstract

Pathology registers can be a useful tool to overcome obstacles in the identification and management of familial hypercholesterolemia since childhood. In 2018, the LIPIGEN pediatric group was constituted within the Italian LIPIGEN study to focus on FH subjects under 18 years. This work aimed at discussing its recent progress and early outcomes. Demographic, biochemical, and genetic baseline characteristics were collected, with an in-depth analysis of the genetic defects. The analysis was carried out on 1,602 children and adolescents (mean age at baseline 9.9 ± 4.0 years), and almost the whole cohort underwent the genetic test (93.3%). Overall, the untreated mean value of LDL-C was 220.0 ± 97.2 mg/dl, with an increasing gradient from subjects with a negative (N = 317; mean untreated LDL-C = 159.9 ± 47.7 mg/dl), inconclusive (N = 125; mean untreated LDL-C = 166.4 ± 56.5 mg/dl), or positive (N = 1,053; mean untreated LDL-C = 246.5 ± 102.1 mg/dl) genetic diagnosis of FH. In the latter group, the LDL-C values presented a great variability based on the number and the biological impact of involved causative variants. The LIPIGEN pediatric group represents one of the largest cohorts of children with FH, allowing the deepening of the characterization of their baseline and genetic features, providing the basis for further longitudinal investigations for complete details.

Published
2022
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29. The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.

Author

Gazzotti, Marta, Casula, Manuela, Bertolini, Stefano, Capra, Maria Elena, Olmastroni, Elena, Catapano, Alberico Luigi, and Pederiva, Cristina

Subjects
FAMILIAL hypercholesterolemia, GENETIC disorder diagnosis, TEENAGERS, LDL cholesterol, GENETIC testing
Abstract

Pathology registers can be a useful tool to overcome obstacles in the identification and management of familial hypercholesterolemia since childhood. In 2018, the LIPIGEN pediatric group was constituted within the Italian LIPIGEN study to focus on FH subjects under 18 years. This work aimed at discussing its recent progress and early outcomes. Demographic, biochemical, and genetic baseline characteristics were collected, with an in-depth analysis of the genetic defects. The analysis was carried out on 1,602 children and adolescents (mean age at baseline 9.9 ± 4.0 years), and almost the whole cohort underwent the genetic test (93.3%). Overall, the untreated mean value of LDL-C was 220.0 ± 97.2 mg/dl, with an increasing gradient from subjects with a negative (N = 317; mean untreated LDL-C = 159.9 ± 47.7 mg/dl), inconclusive (N = 125; mean untreated LDL-C = 166.4 ± 56.5 mg/dl), or positive (N = 1,053; mean untreated LDL-C = 246.5 ± 102.1 mg/dl) genetic diagnosis of FH. In the latter group, the LDL-C values presented a great variability based on the number and the biological impact of involved causative variants. The LIPIGEN pediatric group represents one of the largest cohorts of children with FH, allowing the deepening of the characterization of their baseline and genetic features, providing the basis for further longitudinal investigations for complete details. [ABSTRACT FROM AUTHOR]

Published
2023
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32. Twelve Variants Polygenic Score for Low‐Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations

Author

Olmastroni, Elena, primary, Gazzotti, Marta, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Pirillo, Angela, additional, Catapano, Alberico Luigi, additional, Casula, Manuela, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Pellegatta, Fabio, additional, Bartuli, Andrea, additional, Benso, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Calabrò, Paolo, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Del Ben, Maria, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iannuzzo, Gabriella, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Maroni, Lorenzo, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Antonio, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Sabbà, Carlo, additional, Sarzani, Riccardo, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Di Costanzo, Alessia, additional, Fortunato, Giuliana, additional, Spina, Rossella, additional, Baldera, Davide, additional, Banderali, Giuseppe, additional, Baratta, Francesco, additional, Beccuti, Guglielmo, additional, Bertocco, Sandra, additional, Bruzzi, Patrizia, additional, Bucci, Marco, additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Cardolini, Iris, additional, Cefalù, Angelo Baldassarre, additional, Cinquegrani, Maria, additional, Colombo, Emanuela, additional, Covetti, Giuseppe, additional, Cremonini, Anna Laura, additional, Cutolo, Ada, additional, D’Addato, Sergio, additional, D’Ambrosio, Vincenzo, additional, De Corrado, Giuseppe, additional, Di Pentima, Chiara, additional, Fimiani, Fabio, additional, Gentile, Marco, additional, Ghirardello, Omar, additional, Giusti, Betti, additional, Grassi, Davide, additional, Grigore, Liliana, additional, Massini, Giulia, additional, Meregalli, Giancarla, additional, Minicocci, Ilenia, additional, Moffa, Simona, additional, Montalcini, Tiziana, additional, Nascimbeni, Fabio, additional, Negri, Emanuele Alberto, additional, Pavanello, Chiara, additional, Prati, Lucia, additional, Roscini, Anna Rita, additional, Sani, Elena, additional, Schaffer, Alon, additional, Scicali, Roberto, additional, Suppressa, Patrizia, additional, Tedeschi, Michele, additional, Vinci, Pierandrea, additional, Manzato, Enzo, additional, Tragni, Elena, additional, and Zampoleri, Veronica, additional

Published
2022
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34. The Effects of COVID-19 Pandemic and Lockdown on Pediatric Nutritional and Metabolic Diseases: A Narrative Review.

Author

Capra, Maria Elena, Stanyevic, Brigida, Giudice, Antonella, Monopoli, Delia, Decarolis, Nicola Mattia, Esposito, Susanna, and Biasucci, Giacomo

Abstract

SARS-CoV-2 was the first pathogen implied in a worldwide health emergency in the last decade. Containment measures have been adopted by various countries to try to stop infection spread. Children and adolescents have been less clinically involved by COVID-19, but the pandemic and consequent containment measures have had an important influence on the developmental ages. The COVID-19 pandemic and the subsequent lockdown periods have influenced the nutrition and lifestyles of children and adolescents, playing an epigenetic role in the development of nutrition and metabolic diseases in this delicate age group. The aim of our review is to investigate the effects of the COVID-19 pandemic on nutrition and metabolic diseases in the developmental ages. Moreover, we have analyzed the effect of different containment measures in children and adolescents. An increase in being overweight, obesity and type 2 diabetes mellitus has been detected. Concerning type 1 diabetes mellitus, although a validated mechanism possibly linking COVID-19 with new onset type 1 diabetes mellitus has not been yet demonstrated, barriers to the accessibility to healthcare services led to delayed diagnosis and more severe presentation of this disease. Further studies are needed to better investigate these relationships and to establish strategies to contain the nutritional and metabolic impact of new pandemics in the developmental ages. [ABSTRACT FROM AUTHOR]

Published
2023
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38. Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Author

Averna, Maurizio, Cefalã¹, Angelo B., Casula, Manuela, Noto, Davide, Arca, Marcello, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico L., Tarugi, Patrizia, Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, SabbÃ&nbsp, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josà Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Fortunato, Giuliana, Grigore, Liliana, Del Ben, Maria, Maranghi, Marianna, Barbagallo, Carlo M., Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iris, Cervelli, Nazzareno, Emanuela, Colombo, Vinsin, A. Sun, Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, Averna, M., Cefalu', A., Casula, M., Noto, D., Arca, M., Bertolini, S., Calandra, S., Catapano, A., Tarugi, P., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbã , C., Sampietro, T., Sarzani, R., Tagliabue, M., Trenti, C., Vigna, G., Werba, J., Zambon, S., Zenti, M., Montali, A., Fortunato, G., Grigore, L., Del Ben, M., Maranghi, M., Cefalã¹, A., Barbagallo, C., Buonuomo, P., Capra, M., Vinci, P., D'Addato, S., Galbiati, S., Nascimbeni, F., Bucci, M., Spagnoli, W., Cardolini, I., Cervelli, N., Emanuela, C., Vinsin, A., Laviola, L., Bello, F., Chiariello, G., Predieri, B., Siepi, D., Saitta, A., Giusti, B., Pavanello, C., Lussu, M., Prati, L., Banderali, G., Balleari, G., Montalcini, T., Scicali, R., Gentile, L., Gentile, M., Suppressa, P., Sbrana, F., Cocci, G., Benso, A., Negri, E., Ghirardello, O., Lorenzo, V., Zambon, A., Enzo, B., Minicocci, I., Spina, R., Orlando, C., Di Taranto, M., Chiodo, L., Garlaschelli, K., Manzato, E., Tragni, E., Averna, Maurizio, Cefalã¹, Angelo B., Casula, Manuela, Noto, Davide, Arca, Marcello, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico L., Tarugi, Patrizia, Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbã , Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josã Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Fortunato, Giuliana, Grigore, Liliana, DEL BELLO, Francesca, Maranghi, Marianna, Barbagallo, Carlo M., Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iri, Cervelli, Nazzareno, Emanuela, Colombo, Vinsin, A. Sun, Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, Cefalù, Angelo B., Sabbà, Carlo, Werba, Josè Pablo, Del Ben, Maria, and Colombo, Emanuela

Subjects
0301 basic medicine, Candidate gene, Genetic testing, Settore MED/09 - Medicina Interna, Databases, Factual, DNA Mutational Analysis, Disease, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, 0302 clinical medicine, Dyslipidemias, National network, Internal Medicine, Cardiology and Cardiovascular Medicine, Risk Factors, Prospective Studies, Program Development, Prospective cohort study, medicine.diagnostic_test, General Medicine, Prognosis, Cholesterol, Phenotype, Italy, Genetic Markers, medicine.medical_specialty, MEDLINE, Hyperlipoproteinemia Type II, 03 medical and health sciences, Databases, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Factual, Retrospective Studies, business.industry, Settore MED/13 - ENDOCRINOLOGIA, Retrospective cohort study, medicine.disease, Atherosclerosis, Mutation, 030104 developmental biology, Endocrinology, Dyslipidemia, Genetic marker, business
Abstract

Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationwide DNA diagnostic centers. Results and conclusions: From 2012 to October 2016, available biochemical and clinical information of 3480 subjects with familial hypercholesterolemia identified according to the Dutch Lipid Clinic Network (DLCN) score were included in the database and genetic analysis was performed in 97.8% of subjects, with a mutation detection rate of 92.0% in patients with DLCN score >= 6. The establishment of the LIPIGEN network will have important effects on clinical management and it will improve the overall identification and treatment of primary dyslipidemias in Italy. (C) 2017 The Authors. Published by Elsevier Ireland Ltd.

Published
2017

39. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Author

Pirillo, Angela, Garlaschelli, Katia, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Catapano, Alberico L., Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, SabbÃ&nbsp, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josà Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Noto, Davide, Fortunato, Giuliana, Grigore, Liliana, Del Ben, Maria, Maranghi, Marianna, Cefalã¹, A. Baldassarre, Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iris, Cervelli, Nazzareno, Emanuela, Colombo, Sun, Vinsin A., Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Casula, Manuela, Chiodo, Lorenzo, Manzato, Enzo, Tragni, Elena, Pirillo, Angela, Garlaschelli, Katia, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Catapano, Alberico L., Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbã , Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josã Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Noto, Davide, Fortunato, Giuliana, Grigore, Liliana, DEL BELLO, Francesca, Maranghi, Marianna, Cefalã¹, A. Baldassarre, Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iri, Cervelli, Nazzareno, Emanuela, Colombo, Sun, Vinsin A., Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Casula, Manuela, Chiodo, Lorenzo, Manzato, Enzo, Tragni, Elena, Sabbà, Carlo, Werba, Josè Pablo, Del Ben, Maria, Cefalù, A. Baldassarre, DI BELLO, Francesca, Pirillo, A., Garlaschelli, K., Arca, M., Averna, M., Bertolini, S., Calandra, S., Tarugi, P., Catapano, A., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbã , C., Sampietro, T., Sarzani, R., Tagliabue, M., Trenti, C., Vigna, G., Werba, J., Zambon, S., Zenti, M., Montali, A., Noto, D., Fortunato, G., Grigore, L., Del Ben, M., Maranghi, M., Cefalu', A., Buonuomo, P., Capra, M., Vinci, P., D'Addato, S., Galbiati, S., Nascimbeni, F., Bucci, M., Spagnoli, W., Cardolini, I., Cervelli, N., Emanuela, C., Sun, V., Laviola, L., Bello, F., Chiariello, G., Predieri, B., Siepi, D., Saitta, A., Giusti, B., Pavanello, C., Lussu, M., Prati, L., Banderali, G., Balleari, G., Montalcini, T., Scicali, R., Gentile, L., Gentile, M., Suppressa, P., Sbrana, F., Cocci, G., Benso, A., Negri, E., Ghirardello, O., Lorenzo, V., Zambon, A., Enzo, B., Minicocci, I., Spina, R., Orlando, C., Di Taranto, M., Casula, M., Chiodo, L., Manzato, E., Tragni, E., and Colombo, Emanuela

Subjects
0301 basic medicine, Apolipoprotein E, Candidate gene, Settore MED/09 - Medicina Interna, Databases, Factual, Apolipoprotein B, DNA Mutational Analysis, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Compound heterozygosity, PCSK9, 0302 clinical medicine, Risk Factors, Receptors, Genetics, Homozygote, Autosomal dominant trait, Pathogenic variants, General Medicine, Prognosis, APOB, LDLR, Cholesterol, Phenotype, Italy, Autosomal Recessive Hypercholesterolemia, Apolipoprotein B-100, lipids (amino acids, peptides, and proteins), Proprotein Convertase 9, Cardiology and Cardiovascular Medicine, Preliminary Data, Genetic Markers, Familial hypercholesterolemiaLDLRPCSK9APOBPathogenic variants, Heterozygote, Biology, Pathogenic variant, LDL, Hyperlipoproteinemia Type II, 03 medical and health sciences, Databases, medicine, Internal Medicine, Humans, Genetic Predisposition to Disease, Factual, Settore MED/13 - ENDOCRINOLOGIA, medicine.disease, Atherosclerosis, 030104 developmental biology, Receptors, LDL, Mutation, biology.protein
Abstract

Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major candidate genes for monogenic hypercholesterolemia (LDLR, APOB, PCSK9, APOE, LDLRAP1, STAP1). Results A total of 213 variants were detected in 1076 subjects. About 90% of them had a pathogenic or likely pathogenic variants. More than 94% of patients carried pathogenic variants in LDLR gene, 27 of which were novel. Pathogenic variants in APOB and PCSK9 were exceedingly rare. We found 4 true homozygotes and 5 putative compound heterozygotes for pathogenic variants in LDLR gene, as well as 5 double heterozygotes for LDLR/APOB pathogenic variants. Two patients were homozygous for pathogenic variants in LDLRAP1 gene resulting in autosomal recessive hypercholesterolemia. One patient was found to be heterozygous for the ApoE variant p.(Leu167del), known to confer an FH phenotype. Conclusions This study shows the molecular characteristics of the FH patients identified in Italy over the last two years. Full phenotypic characterization of these patients and cascade screening of family members is now in progress.

Published
2017

40. Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

Author

Casula, Manuela, primary, Olmastroni, Elena, additional, Pirillo, Angela, additional, Catapano, Alberico Luigi, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Pellegatta, Fabio, additional, Angelico, Francesco, additional, Bartuli, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Maroni, Lorenzo, additional, Miccoli, Roberto, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Arturo, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Rubba, Paolo, additional, Sabbà, Carlo, additional, Sampietro, Tiziana, additional, Sarzani, Riccardo, additional, Tagliabue, Milena Paola, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Minicocci, Ilenia, additional, Noto, Davide, additional, Fortunato, Giuliana, additional, Banderali, Giuseppe, additional, Benso, Andrea, additional, Bigolin, Paola, additional, Bonora, Enzo, additional, Bruzzi, Patrizia, additional, Bucci, Marco, additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Cardolini, Iris, additional, Cefalù, Baldassarre, additional, Cervelli, Nazzareno, additional, Chiariello, Giuseppe, additional, Cocci, Guido, additional, Colombo, Emanuela, additional, Cremonini, Anna Laura, additional, D'Addato, Sergio, additional, D'Erasmo, Laura, additional, Dal Pino, Beatrice, additional, De Sanctis, Luisa, additional, De Vita, Emanuele, additional, Del Ben, Maria, additional, Di Costanzo, Alessia, additional, Di Taranto, Maria Donata, additional, Fasano, Tommaso, additional, Gentile, Luigi, additional, Gentile, Marco, additional, Ghirardello, Omar, additional, Grigore, Liliana, additional, Lussu, Milena, additional, Meregalli, Giancarla, additional, Moffa, Simona, additional, Montalcini, Tiziana, additional, Morgia, Valeria, additional, Nascimbeni, Fabio, additional, Pasta, Andrea, additional, Pavanello, Chiara, additional, Saitta, Antonino, additional, Scicali, Roberto, additional, Siepi, Donatella, additional, Spagnolli, Walter, additional, Spina, Rossella, additional, Sticchi, Elena, additional, Suppressa, Patrizia, additional, Vigo, Lorenzo, additional, Vinci, Pierandrea, additional, Casula, Manuela, additional, Manzato, Enzo, additional, Tragni, Elena, additional, and Zampoleri, Veronica, additional

Published
2018
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41. Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Author

Averna, Maurizio, primary, Cefalù, Angelo B., additional, Casula, Manuela, additional, Noto, Davide, additional, Arca, Marcello, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Catapano, Alberico L., additional, Tarugi, Patrizia, additional, Averna, Maurizio, additional, Catapano, Alberico Luigi, additional, Pellegatta, Fabio, additional, Angelico, Francesco, additional, Bartuli, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Arturo, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Rubba, Paolo, additional, Sabbà, Carlo, additional, Sampietro, Tiziana, additional, Sarzani, Riccardo, additional, Tagliabue, Milena Paola, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Montali, Anna, additional, Fortunato, Giuliana, additional, Grigore, Liliana, additional, Del Ben, Maria, additional, Maranghi, Marianna, additional, Barbagallo, Carlo M., additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Vinci, Pierandrea, additional, D'Addato, Sergio, additional, Galbiati, Stella, additional, Nascimbeni, Fabio, additional, Bucci, Marco, additional, Spagnoli, Walter, additional, Cardolini, Iris, additional, Cervelli, Nazzareno, additional, Emanuela, Colombo, additional, Vinsin, A. Sun, additional, Laviola, Luigi, additional, Bello, Francesca, additional, Chiariello, Giuseppe, additional, Predieri, Barbara, additional, Siepi, Donatella, additional, Saitta, Antonino, additional, Giusti, Betti, additional, Pavanello, Chiara, additional, Lussu, Milena, additional, Prati, Lucia, additional, Banderali, Giuseppe, additional, Balleari, Giulia, additional, Montalcini, Tiziana, additional, Scicali, Roberto, additional, Gentile, Luigi, additional, Gentile, Marco, additional, Suppressa, Patrizia, additional, Sbrana, Francesco, additional, Cocci, Guido, additional, Benso, Andrea, additional, Negri, Emanuele Alberto, additional, Ghirardello, Omar, additional, Lorenzo, Vigo, additional, Zambon, Alberto, additional, Enzo, Bonora, additional, Minicocci, Ilenia, additional, Spina, Rossella, additional, Orlando, Camilla, additional, Di Taranto, Maria Donata, additional, Chiodo, Lorenzo, additional, Garlaschelli, Katia, additional, Manzato, Enzo, additional, and Tragni, Elena, additional

Published
2017
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42. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Author

Pirillo, Angela, primary, Garlaschelli, Katia, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Catapano, Alberico L., additional, Catapano, Alberico Luigi, additional, Pellegatta, Fabio, additional, Angelico, Francesco, additional, Bartuli, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Arturo, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Rubba, Paolo, additional, Sabbà, Carlo, additional, Sampietro, Tiziana, additional, Sarzani, Riccardo, additional, Tagliabue, Milena Paola, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Montali, Anna, additional, Noto, Davide, additional, Fortunato, Giuliana, additional, Grigore, Liliana, additional, Del Ben, Maria, additional, Maranghi, Marianna, additional, Cefalù, A. Baldassarre, additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Vinci, Pierandrea, additional, D'Addato, Sergio, additional, Galbiati, Stella, additional, Nascimbeni, Fabio, additional, Bucci, Marco, additional, Spagnoli, Walter, additional, Cardolini, Iris, additional, Cervelli, Nazzareno, additional, Emanuela, Colombo, additional, Sun, Vinsin A., additional, Laviola, Luigi, additional, Bello, Francesca, additional, Chiariello, Giuseppe, additional, Predieri, Barbara, additional, Siepi, Donatella, additional, Saitta, Antonino, additional, Giusti, Betti, additional, Pavanello, Chiara, additional, Lussu, Milena, additional, Prati, Lucia, additional, Banderali, Giuseppe, additional, Balleari, Giulia, additional, Montalcini, Tiziana, additional, Scicali, Roberto, additional, Gentile, Luigi, additional, Gentile, Marco, additional, Suppressa, Patrizia, additional, Sbrana, Francesco, additional, Cocci, Guido, additional, Benso, Andrea, additional, Negri, Emanuele Alberto, additional, Ghirardello, Omar, additional, Lorenzo, Vigo, additional, Zambon, Alberto, additional, Enzo, Bonora, additional, Minicocci, Ilenia, additional, Spina, Rossella, additional, Orlando, Camilla, additional, Di Taranto, Maria Donata, additional, Casula, Manuela, additional, Chiodo, Lorenzo, additional, Manzato, Enzo, additional, and Tragni, Elena, additional

Published
2017
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43. Comparison of the Nutritional Values of Toddler Milks Available in Italy

Author

Riva, Enrica, Verduci, Elvira, Banderali, Giuseppe, Capra, Maria Elena, Giovannini, Marcello, Riva, Enrica, Verduci, Elvira, Banderali, Giuseppe, Capra, Maria Elena, and Giovannini, Marcello

Abstract

If breast milk is not available infant formula ensures a balanced intake of nutrients and is undoubtedly more suitable for infants than cows’ milk. In particular, it should point out the absolute necessity to postpone to the end of the first year of life, or even after the 2 nd year, the use of cow's milk for the extreme imbalance of nutrients that lead to high-protein diets and low levels of polyunsaturated fats, iron and zinc. As a consequence, in the absence of breast milk, the use of an appropriately adapted formula in the first year of life and the use of “toddler milk” from 12 to 36 months may represent adequate nutritional alternatives, especially when compare to the use of cow milk, and in particular may appear to play a fundamental role in the prevention of iron deficiency anemia. Different varieties of toddler milk are currently available in Italy. This review outlines the nutritional differences between breast, toddler and cows’ milks, and compares different brands of toddler milk.

Published
2013

44. Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations

Author

Olmastroni, E., Gazzotti, M., Arca, M., Averna, M., Pirillo, A., Catapano, A. L., Casula, M., Marcello, A., Maurizio, A., Stefano, B., Sebastiano, C., Luigi, C. A., Patrizia, T., Fabio, P., Andrea, B., Giacomo, B., Gianni, B., Luca, B., Katia, B., Claudio, B., Carlo, B. A., Adriana, B., Paolo, C., Francesca, C., Francesco, C., Nadia, C., Maria, D. B., Massimo, F., Claudio, F., Maria, F. A., Andrea, G., Ornella, G., Arcangelo, I., Gabriella, I., Lorenzo, I., Graziana, L., Alessandro, L., Giuseppe, M., Rossella, M., Lorenzo, M., Giuliana, M., Sandro, M., Valerio, P., Cristina, P., Antonio, P., Livia, P., Arturo, P., Francesco, P., Elena, R., Carlo, S., Riccardo, S., Chiara, T., Battista, V. G., Pablo, W. J., Sabina, Z., Grazia, Z. M., Alessia, D. C., Giuliana, F., Rossella, S., Davide, B., Giuseppe, B., Francesco, B., Guglielmo, B., Sandra, B., Patrizia, B., Marco, B., Sabrina, B. P., Elena, C. M., Iris, C., Baldassarre, C. A., Maria, C., Emanuela, C., Giuseppe, C., Laura, C. A., Ada, C., Sergio, D., Vincenzo, D., Giuseppe, D. C., Chiara, D. P., Fabio, F., Marco, G., Omar, G., Betti, G., Davide, G., Liliana, G., Giulia, M., Giancarla, M., Ilenia, M., Simona, M., Tiziana, M., Fabio, N., Alberto, N. E., Chiara, P., Lucia, P., Rita, R. A., Elena, S., Alon, S., Roberto, S., Patrizia, S., Michele, T., Pierandrea, V., Manuela, C., Enzo, M., Elena, T., Veronic, Z., Olmastroni, Elena, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Pirillo, Angela, Catapano, Alberico Luigi, Casula, Manuela, Stefano, Bertolini, Sebastiano, Calandra, Patrizia, Tarugi, Fabio, Pellegatta, Andrea, Bartuli, Andrea, Benso, Giacomo, Biasucci, Gianni, Biolo, Luca, Bonanni, Katia, Bonomo, Claudio, Borghi, Antonio Carlo Bossi, Adriana, Branchi, Paolo, Calabrò, Francesca, Carubbi, Francesco, Cipollone, Nadia, Citroni, Maria Del Ben, Massimo, Federici, Claudio, Ferri, Anna Maria Fiorenza, Andrea, Giaccari, Ornella, Guardamagna, Arcangelo, Iannuzzi, Iannuzzo, Gabriella, Lorenzo, Iughetti, Graziana, Lupattelli, Alessandro, Lupi, Giuseppe, Mandraffino, Rossella, Marcucci, Lorenzo, Maroni, Giuliana, Mombelli, Sandro, Muntoni, Valerio, Pecchioli, Cristina, Pederiva, Antonio, Pipolo, Livia, Pisciotta, Antonio, Pujia, Francesco, Purrello, Elena, Repetti, Carlo, Sabbà, Riccardo, Sarzani, Chiara, Trenti, Giovanni Battista Vigna, Josè Pablo Werba, Sabina, Zambon, Maria Grazia Zenti, Alessia Di Costanzo, Fortunato, Giuliana, Rossella, Spina, Davide, Baldera, Giuseppe, Banderali, Francesco, Baratta, Guglielmo, Beccuti, Sandra, Bertocco, Patrizia, Bruzzi, Marco, Bucci, Paola Sabrina Buonuomo, Maria Elena Capra, Iris, Cardolini, Angelo Baldassarre Cefalù, Maria, Cinquegrani, Emanuela, Colombo, Giuseppe, Covetti, Anna Laura Cremonini, Ada, Cutolo, Sergio, D'Addato, Vincenzo, D'Ambrosio, Giuseppe De Corrado, Chiara Di Pentima, Fabio, Fimiani, Gentile, Marco, Omar, Ghirardello, Betti, Giusti, Davide, Grassi, Liliana, Grigore, Giulia, Massini, Giancarla, Meregalli, Ilenia, Minicocci, Simona, Moffa, Tiziana, Montalcini, Fabio, Nascimbeni, Emanuele Alberto Negri, Chiara, Pavanello, Lucia, Prati, Anna Rita Roscini, Elena, Sani, Alon, Schaffer, Roberto, Scicali, Patrizia, Suppressa, Michele, Tedeschi, Pierandrea, Vinci, Enzo, Manzato, Elena, Tragni, Veronica, Zampoler, and Bertolini Stefano, Calandra Sebastiano, Tarugi Patrizia, Pellegatta Fabio, Bartuli Andrea, Benso Andrea, Biasucci Giacomo, Biolo Gianni, Bonanni Luca, Bonomo Katia, Borghi Claudio, Bossi Antonio Carlo, Branchi Adriana, Calabrò Paolo, Carubbi Francesca, Cipollone Francesco, Citroni Nadia, Del Ben Maria, Federici Massimo, Ferri Claudio, Fiorenza Anna Maria, Giaccari Andrea, Guardamagna Ornella, Iannuzzi Arcangelo, Iannuzzo Gabriella, Iughetti Lorenzo, Lupattelli Graziana, Lupi Alessandro, Mandraffino Giuseppe, Marcucci Rossella, Maroni Lorenzo, Mombelli Giuliana, Muntoni Sandro, Pecchioli Valerio, Pederiva Cristina, Pipolo Antonio, Pisciotta Livia, Pujia Arturo, Purrello Francesco, Repetti Elena, Sabbà Carlo, Sarzani Riccardo, Trenti Chiara, Vigna Giovanni Battista, Werba Josè Pablo, Zambon Sabina, Zenti Maria Grazia. Di Costanzo Alessia, Fortunato Giuliana, Spina Rossella, Baldera Davide, Banderali Giuseppe, Baratta Francesco, Beccuti Guglielmo, Bertocco Sandra, Bruzzi Patrizia, Bucci Marco, Buonuomo Paola Sabrina, Capra Maria Elena, Cardolini Iris, Cefalù Angelo Baldassare, Cinquegrani Maria, Colombo Emanuela, Covetti Giuseppe, Cremonini Anna Laura, Cutolo Ada, D’Addato Sergio, D’Ambrosio Vincenzo, De Corrado Giuseppe, Di Pentima Chiara, Fimiani Fabio, Gentile Marco, Ghirardello Omar, Giusti Betti, Grassi Davide, Grigore Liliana, Massini Giulia, Meregalli Giancarla, Minicocci Ilenia, Moffa Simona, Montalcini Tiziana, Nascimbeni Fabio, Negri Emanuele Alberto, Pavanello Chiara, Prati Lucia, Roscini Anna Rita, Sani Elena, Schaffer Alon, Scicali Roberto, Suppressa Patrizia, Tedeschi Michele, Vinci Pierandrea, Manzato Enzo, Tragni Elena, Zampoleri Veronica

Subjects
Male, Adult, Multifactorial Inheritance, Settore MED/09 - Medicina Interna, familial hypercholesterolemia, molecular diagnosis, polygenic risk score, Cholesterol, LDL, Female, Humans, Middle Aged, Mutation, Gene Regulatory Networks, Hyperlipoproteinemia Type II, LDL, Cholesterol, molecular diagnosi
Abstract

Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) were evaluated. Patients who were FH-mutation negative had lower mean levels of pretreatment LDL-C than patients who were FH-mutation positive (217.14±55.49 versus 270.52±68.59 mg/dL, P

Published
2022

45. Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

Author

Casula, M. a., B, Be, Olmastroni, E. a., Pirillo, A. c., Catapano, D, A. L. b., D, Jemail, Author, Lipigen, Group, Averna, M. g., Bertolini, S. h., Calandra, S. i., Tarugi, P. i., Pellegatta, F. k., Angelico, F. f., Bartuli, A. l., Biasucci, G. m., Biolo, G. n., Bonanni, L. o., Bonomo, K. p., Borghi, C. q., Bossi, A. C. r., Branchi, A. s., Carubbi, F. t., Cipollone, F. u., Citroni, N. v., Federici, M. w., Ferri, C. x., Fiorenza, A. M. y., Giaccari, A. z., Giorgino, Aa, F., Guardamagna, Ab, O., Iannuzzi, Ac, A., Iughetti, Ad, L., Lupattelli, Ae, G., Lupi, Af, A., Mandraffino, Giuseppe, Ag, G., Marcucci, Ah, R., Maroni, Ai, L., Miccoli, Aj, R., Mombelli, Ak, G., Muntoni, Al, S., Pecchioli, Am, V., Pederiva, An, C., Pipolo, Ao, A., Pisciotta, Ap, L., Pujia, Aq, A., Purrello, Ar, F., Repetti, As, E., Rubba, At, P., Sabbà, Au, C., Sampietro, Av, T., Sarzani, Aw, R., Tagliabue, M. P., Ax, Trenti, Ay, C., Vigna, G. B., Az, Werba, J. P., Ba, Zambon, Bb, S., Zenti, M. G., Bc, Minicocci, I. f., Noto, D. g., Fortunato, Bd, G., Banderali, An, G., Benso, Ax, A., Bigolin, Bb, P., Bonora, Bc, E., Bruzzi, Ad, P., Bucci, M. u., Buonuomo, P. S. l., Capra, M. E. m., Cardolini, I. w., Cefalù, B. g., Cervelli, N. x., Chiariello, Ac, G., Cocci, Aw, G., Colombo, E. y., Cremonini, A. L., Ap, D'Addato, S. q., D'Erasmo, L. f., Dal, Pino, Av, B., Sanctis, De, Ab, L., Vita, De, Ao, E., Del, Ben, M. f., Costanzo, Di, A. f., Taranto, Di, M. D., Bd, Fasano, Ay, T., Gentile, As, L., At, M., Ghirardello, Az, O., Grigore, L. k., Lussu, Al, M., Meregalli, G. r., Moffa, S. z., Montalcini, Aq, T., Morgia, Nascimbeni, F. t., Pasta, A. h., Pavanello, Ak, C., Saitta, Antonino, Ag, A., Scicali, Ar, R., Siepi, Ae, D., Spagnolli, W. v., Spina, R. g., Sticchi, Ah, E., Suppressa, Au, P., Vigo, Ba, L., Vinci, P. n., Manzato, Bf, E., Tragni, Be, E., Zampoleri, Bg, V., Casula, Manuela, Olmastroni, Elena, Pirillo, Angela, Catapano, Alberico Luigi, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Lupi, Alessandro, Mandraffino, Giuseppe, Marcucci, Rossella, Maroni, Lorenzo, Miccoli, Roberto, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbà, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josè Pablo, Zambon, Sabina, Zenti, Maria Grazia, Minicocci, Ilenia, Noto, Davide, Fortunato, Giuliana, Banderali, Giuseppe, Benso, Andrea, Bigolin, Paola, Bonora, Enzo, Bruzzi, Patrizia, Bucci, Marco, Buonuomo, Paola Sabrina, Capra, Maria Elena, Cardolini, Iri, Cefalù, Baldassarre, Cervelli, Nazzareno, Chiariello, Giuseppe, Cocci, Guido, Colombo, Emanuela, Cremonini, Anna Laura, D'Addato, Sergio, D'Erasmo, Laura, Dal Pino, Beatrice, De Sanctis, Luisa, De Vita, Emanuele, Del Ben, Maria, Di Costanzo, Alessia, Di Taranto, Maria Donata, Fasano, Tommaso, Gentile, Luigi, Gentile, Marco, Ghirardello, Omar, Grigore, Liliana, Lussu, Milena, Meregalli, Giancarla, Moffa, Simona, Montalcini, Tiziana, Morgia, Valeria, Nascimbeni, Fabio, Pasta, Andrea, Pavanello, Chiara, Saitta, Antonino, Scicali, Roberto, Siepi, Donatella, Spagnolli, Walter, Spina, Rossella, Sticchi, Elena, Suppressa, Patrizia, Vigo, Lorenzo, Vinci, Pierandrea, Manzato, Enzo, Tragni, Elena, Zampoleri, Veronica, D'addato, Sergio, D'erasmo, Laura, Casula, M, Olmastroni, E, Pirillo, A, Catapano, A, Averna, M, Noto, D, Cefalu, B, and Spina, R

Subjects
Male, Settore MED/09 - Medicina Interna, Genetic testing, Predictive Value of Test, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Decision Support Technique, 0302 clinical medicine, Retrospective Studie, Risk Factors, Cardiovascular Disease, Genetic Marker, Prospective Studies, 030212 general & internal medicine, Age of Onset, Prospective cohort study, education.field_of_study, medicine.diagnostic_test, Middle Aged, Dutch Lipid Clinic Network score, Adult, Biomarkers, Cardiovascular Diseases, Cholesterol, LDL, Female, Genetic Markers, Genetic Predisposition to Disease, Genetic Testing, Humans, Hyperlipoproteinemia Type II, Italy, Phenotype, Predictive Value of Tests, Reproducibility of Results, Retrospective Studies, Risk Assessment, Decision Support Techniques, Mutation, 3. Good health, Cholesterol, Cardiology and Cardiovascular Medicine, Human, medicine.medical_specialty, Population, Reproducibility of Result, Physical examination, LDL, 03 medical and health sciences, Internal medicine, medicine, First-degree relatives, education, business.industry, Risk Factor, Settore MED/13 - ENDOCRINOLOGIA, Biomarker, medicine.disease, Missing data, Dutch Lipid Clinic Network score, Familial hypercholesterolemia, Genetic testing, Prospective Studie, Age of onset, business
Abstract

Background and aims Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels of blood cholesterol from birth and premature coronary heart disease. Thus, the identification of FH patients is crucial to prevent or delay the onset of cardiovascular events, and the availability of a tool helping with the diagnosis in the setting of general medicine is essential to improve FH patient identification. Methods This study evaluated the performance of the Dutch Lipid Clinic Network (DLCN) score in FH patients enrolled in the LIPIGEN study, an Italian integrated network aimed at improving the identification of patients with genetic dyslipidaemias, including FH. Results The DLCN score was applied on a sample of 1377 adults (mean age 42.9 ± 14.2 years) with genetic diagnosis of FH, resulting in 28.5% of the sample classified as probable FH and 37.9% as classified definite FH. Among these subjects, 43.4% had at least one missing data out of 8, and about 10.0% had 4 missing data or more. When analyzed based on the type of missing data, a higher percentage of subjects with at least 1 missing data in the clinical history or physical examination was classified as possible FH (DLCN score 3–5). We also found that using real or estimated pre-treatment LDL-C levels may significantly modify the DLCN score. Conclusions Although the DLCN score is a useful tool for physicians in the diagnosis of FH, it may be limited by the complexity to retrieve all the essential information, suggesting a crucial role of the clinical judgement in the identification of FH subjects.

Published
2018

46. Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric Group.

Author

Pederiva C, Gazzotti M, Arca M, Averna M, Banderali G, Biasucci G, Brambilla M, Buonuomo PS, Calabrò P, Cipollone F, Citroni N, D'Addato S, Del Ben M, Genovesi S, Guardamagna O, Iannuzzo G, Iughetti L, Mandraffino G, Maroni L, Mombelli G, Muntoni S, Nascimbeni F, Passaro A, Pellegatta F, Pirro M, Pisciotta L, Pujia R, Sarzani R, Scicali R, Suppressa P, Zambon S, Zenti MG, Calandra S, Catapano AL, Tarugi P, Galimberti F, Casula M, and Capra ME

Subjects
Humans, Male, Female, Child, Adolescent, Hyperlipoproteinemia Type II diagnosis, Hyperlipoproteinemia Type II therapy, Dietary Supplements, Diet, Anticholesteremic Agents therapeutic use
Abstract

Detection and treatment of patients with familial hypercholesterolemia (FH) starting from childhood is fundamental to reduce morbidity and mortality. The activity of National realities such as the LIPIGEN (LIpid transPort disorders Italian GEnetic Network) Paediatric Group, founded in 2018, is a milestone in this context. The aim of this exploratory survey, conducted in October 2021 among Italian lipid clinics included in the LIPIGEN Paediatric Group, was to investigate the current clinical approach in the management and treatment of paediatric patients with suspected FH. A digital questionnaire composed of 20 questions investigating nutritional treatment and nutraceutical and pharmacological therapy for children and adolescents with FH was proposed to the principal investigators of 30 LIPIGEN centres. Twenty-four centres responded to the section referring to children aged < 10 years and 30 to that referring to adolescents. Overall, 66.7% of children and 73.3% of adolescents were given lipid-lowering nutritional treatment as the first intervention level for at least 3-4 months (29.2% and 23.3%) or 6-12 months (58.3% and 53.3%). Nutraceuticals were considered in 41.7% (regarding children) and 50.0% (regarding adolescents) of the centres as a supplementary approach to diet. Lipid-lowering drug therapy initiation was mainly recommended (91.7% and 80.0%). In 83.3% of children and 96.7% of adolescents, statins were the most frequently prescribed drug. We highlighted several differences in the treatment of paediatric patients with suspected FH among Italian centres; however, the overall approach is in line with the European Atherosclerosis Society (EAS) recommendations for FH children and adolescents. We consider this survey as a starting point to reinforce collaboration between LIPIGEN centres and to elaborate in the near future a consensus document on the management of paediatric patients with suspected FH so as to improve and uniform detection, management, and treatment of these patients in our country.

Published
2023
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47. Antibiotic Prophylaxis for the Prevention of Urinary Tract Infections in Children: Guideline and Recommendations from the Emilia-Romagna Pediatric Urinary Tract Infections (UTI-Ped-ER) Study Group.

Author

Autore G, Bernardi L, Ghidini F, La Scola C, Berardi A, Biasucci G, Marchetti F, Pasini A, Capra ME, Castellini C, Cioni V, Cantatore S, Cella A, Cusenza F, De Fanti A, Della Casa Muttini E, Di Costanzo M, Dozza A, Gatti C, Malaventura C, Pierantoni L, Parente G, Pelusi G, Perrone S, Serra L, Torcetta F, Valletta E, Vergine G, Antodaro F, Bergomi A, Chiarlolanza J, Leoni L, Mazzini F, Sacchetti R, Suppiej A, Iughetti L, Pession A, Lima M, Esposito S, and The Uti-Ped-Er Study Group

Abstract

Background: Urinary tract infection (UTI) represents one of the most common infectious diseases and a major cause of antibiotic prescription in children. To prevent recurrent infections and long-term complications, low-dose continuous antibiotic prophylaxis (CAP) has been used. However, the efficacy of CAP is controversial. The aim of this document was to develop updated guidelines on the efficacy and safety of CAP to prevent pediatric UTIs. Methods: A panel of experts on pediatric infectious diseases, pediatric nephrology, pediatric urology, and primary care was asked clinical questions concerning the role of CAP in preventing UTIs in children. Overall, 15 clinical questions were addressed, and the search strategy included accessing electronic databases and a manual search of gray literature published in the last 25 years. After data extraction and narrative synthesis of results, recommendations were developed using the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) methodology. Results: The use of CAP is not recommended in children with a previous UTI, with recurrent UTIs, with vesicoureteral reflux (VUR) of any grade, with isolated hydronephrosis, and with neurogenic bladder. CAP is suggested in children with significant obstructive uropathies until surgical correction. Close surveillance based on early diagnosis of UTI episodes and prompt antibiotic therapy is proposed for conditions in which CAP is not recommended. Conclusions: Our systematic review shows that CAP plays a limited role in preventing recurrences of UTI in children and has no effect on its complications. On the other hand, the emergence of new antimicrobial resistances is a proven risk.

Published
2023
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48. Pediatric Headache in Primary Care and Emergency Departments: Consensus with RAND/UCLA Method.

Author

Prezioso G, Suppiej A, Alberghini V, Bergonzini P, Capra ME, Corsini I, De Fanti A, Fiumana E, Fornaro M, Marangio L, Ricciardelli P, Serra L, Cordelli DM, Esposito S, and The Emilia-Romagna Headache Study Group

Abstract

Headache is the most frequent neurological symptom in childhood and the main reason for admission to pediatric emergency departments. The aim of this consensus document is to define a shared clinical pathway between primary care pediatricians (PCP) and hospitals for the management of children presenting with headache. For the purposes of the study, a group of hospital pediatricians and a group of PCP from the Emilia Romagna's health districts were selected to achieve consensus using the RAND/UCLA appropriateness method. Thirty-nine clinical scenarios were developed: for each scenario, participants were asked to rank the appropriateness of each option from 1 to 9. Agreement was reached if ≥75% of participants ranked within the same range of appropriateness. The answers, results, and discussion helped to define the appropriateness of procedures with a low level of evidence regarding different steps of the diagnostic-therapeutic process: primary care evaluation, emergency department evaluation, hospital admission, acute therapy, prophylaxis, and follow-up. The RAND proved to be a valid method to value appropriateness of procedures and define a diagnostic-therapeutic pathway suitable to the local reality in the management of pediatric headache. From our results, some useful recommendations were developed for optimizing the healthcare professionals' network among primary care services and hospitals.

Published
2022
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