409 results on '"Tarugi P"'
Search Results
2. Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia
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Elena Olmastroni, Marta Gazzotti, Maurizio Averna, Marcello Arca, Patrizia Tarugi, Sebastiano Calandra, Stefano Bertolini, Alberico L. Catapano, and Manuela Casula
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cardiovascular risk ,clinical diagnosis ,familial hypercholesterolemia ,lipoprotein(a) ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Background Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M−) a causative genetic variant. Methods and Results An lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk‐increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause but by genotype associated with high lp(a) levels. Among 765 subjects with FH/M− and 930 subjects with FH/M+, 133 (17.4%) and 95 (10.2%) were characterized by 1 copy of either rs10455872 or rs3798220 or 2 copies of either rs10455872 or rs3798220 (lp(a) score ≥1). Subjects with FH/M− also had lower mean levels of pretreatment low‐density lipoprotein cholesterol than individuals with FH/M+ (t test for difference in means between FH/M− and FH/M+ groups
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- 2023
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3. Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA).
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Tarugi, Patrizia, Bertolini, Stefano, Calandra, Sebastiano, Arca, Marcello, Angelico, Francesco, Casula, Manuela, Cefalù, Angelo B., D'Erasmo, Laura, Fortunato, Giuliana, Perrone-Filardi, Pasquale, Rubba, Paolo, Suppressa, Patrizia, Averna, Maurizio, and Catapano, Alberico L.
- Abstract
Familial Hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism that causes an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Although early diagnosis and treatment of FH can significantly improve the cardiovascular prognosis, this disorder is underdiagnosed and undertreated. For these reasons the Italian Society for the Study of Atherosclerosis (SISA) assembled a Consensus Panel with the task to provide guidelines for FH diagnosis and treatment. Our guidelines include: i) an overview of the genetic complexity of FH and the role of candidate genes involved in LDL metabolism; ii) the prevalence of FH in the population; iii) the clinical criteria adopted for the diagnosis of FH; iv) the screening for ASCVD and the role of cardiovascular imaging techniques; v) the role of molecular diagnosis in establishing the genetic bases of the disorder; vi) the current therapeutic options in both heterozygous and homozygous FH. Treatment strategies and targets are currently based on low-density lipoprotein cholesterol (LDL-C) levels, as the prognosis of FH largely depends on the magnitude of LDL-C reduction achieved by lipid-lowering therapies. Statins with or without ezetimibe are the mainstay of treatment. Addition of novel medications like PCSK9 inhibitors, ANGPTL3 inhibitors or lomitapide in homozygous FH results in a further reduction of LDL-C levels. LDL apheresis is indicated in FH patients with inadequate response to cholesterol-lowering therapies. FH is a common, treatable genetic disorder and, although our understanding of this disease has improved, many challenges still remain with regard to its identification and management. [ABSTRACT FROM AUTHOR]
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- 2024
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4. Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric Group
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Cristina Pederiva, Marta Gazzotti, Marcello Arca, Maurizio Averna, Giuseppe Banderali, Giacomo Biasucci, Marta Brambilla, Paola Sabrina Buonuomo, Paolo Calabrò, Francesco Cipollone, Nadia Citroni, Sergio D’Addato, Maria Del Ben, Simonetta Genovesi, Ornella Guardamagna, Gabriella Iannuzzo, Lorenzo Iughetti, Giuseppe Mandraffino, Lorenzo Maroni, Giuliana Mombelli, Sandro Muntoni, Fabio Nascimbeni, Angelina Passaro, Fabio Pellegatta, Matteo Pirro, Livia Pisciotta, Roberta Pujia, Riccardo Sarzani, Roberto Scicali, Patrizia Suppressa, Sabina Zambon, Maria Grazia Zenti, Sebastiano Calandra, Alberico Luigi Catapano, Patrizia Tarugi, Federica Galimberti, Manuela Casula, and Maria Elena Capra
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familial hypercholesterolemia ,paediatric ,pathology register ,survey ,management ,Nutrition. Foods and food supply ,TX341-641 - 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.
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- 2023
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5. The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group
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Marta Gazzotti, Manuela Casula, Stefano Bertolini, Maria Elena Capra, Elena Olmastroni, Alberico Luigi Catapano, Cristina Pederiva, the LIPIGEN Paediatric Group, Massimiliano Allevi, Marcello Arca, Renata Auricchio, Maurizio Averna, Davide Baldera, Giuseppe Banderali, Andrea Bartuli, Giacomo Biasucci, Claudio Borghi, Patrizia Bruzzi, Raffaele Buganza, Paola Sabrina Buonuomo, Paolo Calabrò, Sebastiano Calandra, Francesca Carubbi, Arturo Cesaro, Francesco Cipollone, Nadia Citroni, Giuseppe Covetti, Annalaura Cremonini, Sergio D’Addato, Maria Del Ben, Maria Donata Di Taranto, Giuliana Fortunato, Roberto Franceschi, Federica Galimberti, Simonetta Genovesi, Antonina Giammanco, Liliana Grigore, Ornella Guardamagna, Arcangelo Iannuzzi, Gabriella Iannuzzo, Lorenzo Iughetti, Lidia Lascala, Fabiana Locatelli, Sara Madaghiele, Giuseppe Mandraffino, Massimo Raffaele Mannarino, Bucci Marco, Lorenzo Maroni, Ilenia Minicocci, Giuliana Mombelli, Sandro Muntoni, Fabio Nascimbeni, Gianfranco Parati, Angelina Passaro, Chiara Pavanello, Fabio Pellegatta, Francesco Massimo Perla, Matteo Pirro, Livia Pisciotta, Arturo Pujia, Francesco Purrello, Elisabetta Rinaldi, Riccardo Sarzani, Roberto Scicali, Patrizia Suppressa, Patrizia Tarugi, Sabrina Verachtert, Giovanni Battista Vigna, Josè Pablo Werba, Alberto Zambon, Sabina Zambon, and Maria Grazia Zenti
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familial hypercholesterolemia ,pediatric cohort ,genetic diagnosis ,pathology register ,clinical diagnosis ,cardiovascular genetics ,Genetics ,QH426-470 - 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.
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- 2022
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6. Etica e politica di Lorenzo il Magnifico
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Luisa Secchi Tarugi
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Lorenzo il Magnifico, Lucrezia Tornabuoni, Marsilio Ficino, religiosità, politica ,History of scholarship and learning. The humanities ,AZ20-999 - Abstract
Lorenzo de’ Medici, uomo di profonda fede, data la mirabile educazione ricevuta in famiglia, accettò il governo della città dopo la morte del padre, Piero il Gottoso, come dovere, sentendone il peso, data la sua giovane età di 21 anni, secondo quanto lui stesso dice “mal volentieri accettai”. In tutta la sua vita, non molto lunga, privilegiò come fine il conseguimento del bene comune e non il proprio interesse. Attento anche alle situazioni dei meno fortunati, come il popolo fiorentino e i contadini del Mugello, si rivelò un abile politico che riuscì ad equilibrare la politica dei vari staterelli italiani, ma non dimenticò mai quale fosse il traguardo vero della vita dell’uomo e cioè guardare verso Dio staccandosi dalle ambizioni della vita terrena. Soprattutto raccomandò ai figli di saper governare diventando esempio “perché il signore deve essere servo de’ suoi servi” come scrive nella Sacra rappresentazione di Giovanni e Paolo messa in scena il 17 febbraio 1491 nella Compagnia del Vangelista.
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- 2020
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7. Exome Sequencing in Suspected Monogenic Dyslipidemias
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Stitziel, Nathan O, Peloso, Gina M, Abifadel, Marianne, Cefalu, Angelo B, Fouchier, Sigrid, Motazacker, M Mahdi, Tada, Hayato, Larach, Daniel B, Awan, Zuhier, Haller, Jorge F, Pullinger, Clive R, Varret, Mathilde, Rabès, Jean-Pierre, Noto, Davide, Tarugi, Patrizia, Kawashiri, Masa-Aki, Nohara, Atsushi, Yamagishi, Masakazu, Risman, Marjorie, Deo, Rahul, Ruel, Isabelle, Shendure, Jay, Nickerson, Deborah A, Wilson, James G, Rich, Stephen S, Gupta, Namrata, Farlow, Deborah N, Neale, Benjamin M, Daly, Mark J, Kane, John P, Freeman, Mason W, Genest, Jacques, Rader, Daniel J, Mabuchi, Hiroshi, Kastelein, John JP, Hovingh, G Kees, Averna, Maurizio R, Gabriel, Stacey, Boileau, Catherine, and Kathiresan, Sekar
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Clinical Research ,Human Genome ,Atherosclerosis ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,Dyslipidemias ,Exome ,Female ,High-Throughput Nucleotide Sequencing ,Humans ,Male ,Metabolism ,Inborn Errors ,DNA sequencing ,exome ,genetics ,human ,lipids ,Medical Biotechnology ,Cardiorespiratory Medicine and Haematology ,Cardiovascular System & Hematology - Abstract
BackgroundExome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias.Methods and resultsWe performed exome sequencing on 213 selected family members from 41 kindreds with suspected Mendelian inheritance of extreme levels of low-density lipoprotein cholesterol (after candidate gene sequencing excluded known genetic causes for high low-density lipoprotein cholesterol families) or high-density lipoprotein cholesterol. We used standard analytic approaches to identify candidate variants and also assigned a polygenic score to each individual to account for their burden of common genetic variants known to influence lipid levels. In 9 families, we identified likely pathogenic variants in known lipid genes (ABCA1, APOB, APOE, LDLR, LIPA, and PCSK9); however, we were unable to identify obvious genetic etiologies in the remaining 32 families, despite follow-up analyses. We identified 3 factors that limited novel gene discovery: (1) imperfect sequencing coverage across the exome hid potentially causal variants; (2) large numbers of shared rare alleles within families obfuscated causal variant identification; and (3) individuals from 15% of families carried a significant burden of common lipid-related alleles, suggesting complex inheritance can masquerade as monogenic disease.ConclusionsWe identified the genetic basis of disease in 9 of 41 families; however, none of these represented novel gene discoveries. Our results highlight the promise and limitations of exome sequencing as a discovery technique in suspected monogenic dyslipidemias. Considering the confounders identified may inform the design of future exome sequencing studies.
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- 2015
8. Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects
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Brucato, Federica, Cefalù, A.B., Spina, R., Noto, D., Rabacchi, C., Giammanco, Antonina, Simone, M.L., Scrimali, C., Alletti, M. Gueli, Barbagallo, C.M., Tarugi, P., and Averna, M.R.
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- 2024
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9. Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry
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D’Erasmo, Laura, Bini, Simone, Casula, Manuela, Gazzotti, Marta, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Averna, Maurizio, Iannuzzo, Gabriella, Fortunato, Giuliana, Catapano, Alberico L, and Arca, Marcello
- Abstract
Contemporary real-world data from the Italian cohort of patients affected by homozygous familial hypercholesterolaemia demonstrated that the addition of novel, low-density lipoprotein receptor (LDLR)-independent medications to conventional therapies allowed the achievement of unprecedented low-density lipoprotein cholesterol (LDL-C) values with a trend towards a reduction of cardiovascular risk.Graphical Abstract
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- 2024
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10. The contemporary management of patients with homozygous familial hypercholesterolemia: The experience of the Italian Lipigen registry and a systematic review of the literature
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D'Erasmo, L., primary, Bini, S., additional, Casula, M., additional, D'Elia, S., additional, Gazzotti, M., additional, Bertolini†, S., additional, Calandra, S., additional, Tarugi, P., additional, Averna, M., additional, Catapano, A., additional, and Arca, M., additional
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- 2023
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11. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
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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, 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, Roland, 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 Rodriguez, Macias, 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, 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., na, 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, Garcia, no, 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.
- Abstract
Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies.
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- 2024
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12. Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol–diabetes connection? A systematic review of literature
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Noto, Davide, Arca, Marcello, Tarugi, Patrizia, Cefalù, Angelo B., Barbagallo, Carlo M., and Averna, Maurizio R.
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- 2017
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13. Comparison of two polygenic risk score to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects: Polygenic hypocholesterolemias
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Cefalu A. B., Spina R., Noto D., Rabacchi C., Giammanco A., Simone M. L., Brucato F., Scrimali C., Gueli-Alletti M. G., Barbagallo C. M., Tarugi P., Averna M, Cefalu A.B., Spina R., Noto D., Rabacchi C., Giammanco A., Simone M.L., Brucato F., Scrimali C., Gueli-Alletti M.G., Barbagallo C.M., Tarugi P., and Averna M
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Polygenic risk score ,Mutation ,Hypobetalipoproteinemia - Abstract
Background: Primary Hypobetalipoproteinemias (HBL) are a group of dominant and recessive monogenic genetic disorders caused by mutations in APOB, PCSK9, ANGPTL3, MTTP, Sar1b genes and characterized by plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in a given population. Mutations in the candidate genes account only for a small proportion of subjects with HBL suggesting a role for a polygenic contribution to the low cholesterol phenotype. Objective: To explore the complex genetic architecture of HBL we compared two polygenic risk scores in order to assess the role of the polygenic burden and the differences in the clinical phenotype between monogenic and polygenic HBL; we studied a cohort of 170 subjects with primary HBL referred over a 25-year period to 2 Italian reference centers have been studied. Methods: The genetic analyses have been based on: Sanger sequencing, in-house NGS customized panel and two scores, PRS1 and PRS2 for the polygenic burden. Results: Sixty 60 (35%) and 63 (37%) subjects had a monogenic and polygenic HBL respectively. LDL-C plasma levels were significantly lower in monogenic HBL (30.87 ± 3.12 mg/dl) compared with the non-monogenic HBL (42.80 ± 2.18 mg/dl) (p
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- 2022
14. Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up
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Gündüz, Mehmet, Özaydın, Eda, Atar, Müge Büyüktaşlı, Koç, Nevra, Kırsaçlıoğlu, Ceyda, Köse, Gülşen, Cefalù, Angelo Baldassare, Averna, Maurizio, and Tarugi, Patrizia
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- 2016
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15. Familial chylomicronemia syndrome. A sixty year follow-up in two siblings and their kindreds. Nosological and clinical considerations.
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Vigna, Giovanni B., Citroni, Nadia, Tarugi, Patrizia, and Fellin, Renato
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CARDIOVASCULAR diseases risk factors ,TRIGLYCERIDES ,SEQUENCE analysis ,GENES ,SURVIVAL analysis (Biometry) ,PANCREATITIS ,HYPERLIPOPROTEINEMIA ,LONGITUDINAL method ,DISEASE risk factors - Abstract
• Four subjects with familial chylomicronemia syndrome were identified. • Sixty-year clinical/biochemical follow-up was performed in 2 affected patients. • Genetic analysis disclosed a single LPL gene defect (c.984 G>T) in homozygosity. • Cardiovascular disease/pancreatitis prevalence and long-term survival are discussed. Familial chylomicronemia syndrome (FCS) is a rare and severe genetic disorder, characterized by marked elevation of plasma triglycerides, often diagnosed in infancy. We describe the long-term follow-up (almost 60 years), the diagnostic assessment and the management of two siblings with severe hypertriglyceridemia and a history of pancreatitis who also developed cardiovascular complications later in life. We recently disclosed that the surviving index case was homozygous for a pathogenic LPL gene variant (c.984 G>T, p.M328I). The same variant was also found in two apparently unrelated siblings with FCS living in the same geographical area as the index case. [Display omitted] [ABSTRACT FROM AUTHOR]
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- 2022
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16. Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects.
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Cefalù, Angelo B., Spina, Rossella, Noto, Davide, Rabacchi, Claudio, Giammanco, Antonina, Simone, Maria Luisa, Brucato, Federica, Scrimali, Chiara, Gueli-Alletti, Maria Grazia, Barbagallo, Carlo M., Tarugi, Patrizia, and Averna, Maurizio R.
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GENETIC mutation ,GENETICS ,SEQUENCE analysis ,HYPERCHOLESTEREMIA ,GENETIC disorders ,RISK assessment ,APOLIPOPROTEINS ,PHENOTYPES ,LONGITUDINAL method - Abstract
• Primary hypobetalipoproteinemia (HBL) can be either monogenic or polygenic. • We compared two polygenic risk scores (PRS1-PRS2) in primary HBL. • Among 170 subjects with primary HBL, 37% had a polygenic origin. • Prevalence of liver steatosis did not differ in monogenic and polygenic HBL. • Only PRS1 is effective in detecting polygenic HBL. Primary Hypobetalipoproteinemias (HBL) are a group of dominant and recessive monogenic genetic disorders caused by mutations in APOB, PCSK9, ANGPTL3, MTTP, Sar1b genes and characterized by plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5
th percentile of the distribution in a given population. Mutations in the candidate genes account only for a small proportion of subjects with HBL suggesting a role for a polygenic contribution to the low cholesterol phenotype. To explore the complex genetic architecture of HBL we compared two polygenic risk scores in order to assess the role of the polygenic burden and the differences in the clinical phenotype between monogenic and polygenic HBL; we studied a cohort of 170 subjects with primary HBL referred over a 25-year period to 2 Italian reference centers have been studied. The genetic analyses have been based on: Sanger sequencing, in-house NGS customized panel and two scores, PRS1 and PRS2 for the polygenic burden. Sixty 60 (35%) and 63 (37%) subjects had a monogenic and polygenic HBL respectively. LDL-C plasma levels were significantly lower in monogenic HBL (30.87 ± 3.12 mg/dl) compared with the non-monogenic HBL (42.80 ± 2.18 mg/dl) (p<0.002) with no differences in the percentage of fatty liver. Only PRS1 is effective in detecting polygenic HBL while PRS2 does not improve the polygenic diagnosis. [ABSTRACT FROM AUTHOR]- Published
- 2022
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17. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations
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Fancello, Tatiana, Dardis, Andrea, Rosano, Camillo, Tarugi, Patrizia, Tappino, Barbara, Zampieri, Stefania, Pinotti, Elisa, Corsolini, Fabio, Fecarotta, Simona, D’Amico, Adele, Di Rocco, Maja, Uziel, Graziella, Calandra, Sebastiano, Bembi, Bruno, and Filocamo, Mirella
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- 2009
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18. Familial Heterozygous Hypobetalipoproteinemia, Extrahepatic Primary Malignancy, and Hepatocellular Carcinoma
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Lonardo, Amedeo, Tarugi, Patrizia, Ballarini, Giorgia, and Bagni, Alberto
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- 1998
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19. Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations
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Di Leo, E, Magnolo, L, Bertolotti, M, Bourbon, M, Carmo Pereira, S, Pirisi, M, Calandra, S, and Tarugi, P
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- 2008
20. Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage
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Palmeri, S., Tarugi, P., Sicurelli, F., Buccoliero, R., Malandrini, A., De Santi, M. M., Marcianò, G., Battisti, C., Dotti, M. T., Calandra, S., and Federico, A.
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- 2005
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21. The effect of a thromboxane A2 synthase inhibitor on the dyslipoproteinemia of an inbred rat strain with spontaneous age-related nephrotic syndrome
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Tarugi, P., Nicolini, S., Albertazzi, L., Marchi, L., Calandra, S., and Salvati, P.
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- 1994
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22. Influence of age-related nephropathy on plasma lipoproteins of the aging rat
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Calandra, S. and Tarugi, P.
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- 1991
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23. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
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Tromp, Tycho R, Hartgers, Merel L, Hovingh, G Kees, Vallejo-Vaz, Antonio J, Ray, Kausik K, Soran, Handrean, Freiberger, Tomas, Bertolini, Stefano, Harada-Shiba, Mariko, Blom, Dirk J, Raal, Frederick J, Cuchel, Marina, Tromp, Tycho R., Hartgers, Merel L., Hovingh, G. Kees, Vallejo-Vaz, Antonio J., Ray, Kausik K., Soran, Handrean, Freiberger, Tomas, Bertolini, Stefano A., Harada-Shiba, Mariko, Pang, Jing, Watts, Gerald F., Greber-Platzer, Susanne, Mäser, Martin, Stulnig, Thomas M., Ebenbichler, Christoph F., Bin Thani, Khalid, Cassiman, David, Descamps, Olivier S., Rymen, Daisy, Witters, Peter, Santos, Raul D., Brunham, Liam R., Francis, Gordon A., Genest, Jacques, Hegele, Robert A., Kennedy, Brooke A., Ruel, Isabelle, Sherman, Mark H., Jiang, Long, Wang, Luya, Reiner, Željko, Blaha, Vladimir, Ceska, Richard, Dvorakova, Jana, Dlouhy, Lubomir, Horak, Pavel, Soska, Vladimir, Tichy, Lukas, Urbanek, Robin, Vaverkova, Helena, Vrablik, Michal, Zemek, Stanislav, Zlatohlavek, Lukas, Emil, Sameh, Naguib, Tarek, Reda, Ashraf, Béliard, Sophie, Bruckert, Eric, Gallo, Antonio, Elisaf, Moses S., Kolovou, Genovefa, Cohen, Hofit, Durst, Ronen, Dann, Eldad J., Elis, Avishay, Hussein, Osama, Leitersdorf, Eran, Schurr, Daniel, Setia, Nitika, Verma, Ishwar C., Alareedh, Mohammed D., Al-Khnifsawi, Mutaz, Abdalsahib Al-Zamili, Ali F., Rhadi, Sabah H., Shaghee, Foaad K., Arca, Marcello, Averna, Maurizio, Bartuli, Andrea, Bucci, Marco, Buonuomo, Paola S., Calabrò, Paolo, Calandra, Sebastiano, Casula, Manuela, Catapano, Alberico L., Cefalù, Angelo B., Cicero, Arrigo F.G., D'Addato, Sergio, D'Erasmo, Laura, Di Costanzo, Alessia, Fasano, Tommaso, Gazzotti, Marta, Giammanco, Antonina, Iannuzzo, Gabriella, Ibba, Anastasia, Negri, Emanuele A., Pasta, Andrea, Pavanello, Chiara, Pisciotta, Livia, Rabacchi, Claudio, Ripoli, Carlo, Sampietro, Tiziana, Sbrana, Francesco, Sileo, Fulvio, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, Zenti, Maria G., Hori, Mika, Ayesh, Mahmoud H., Azar, Sami T., Bitar, Fadi F., Fahed, Akl C., Moubarak, Elie M., Nemer, Georges, Nawawi, Hapizah M., Madriz, Ramón, Mehta, Roopa, Cupido, Arjen J., Defesche, Joep C., Reijman, M. Doortje, Roeters-van Lennep, Jeanine E., Stroes, Erik S.G., Wiegman, Albert, Zuurbier, Linda, Al-Waili, Khalid, Sadiq, Fouzia, Chlebus, Krzysztof, Bourbon, Mafalda, Gaspar, Isabel M., Lalic, Katarina S., Ezhov, Marat V., Susekov, Andrey V., Groselj, Urh, Charng, Min-Ji, Khovidhunkit, Weerapan, Aktan, Melih, Altunkeser, Bulent B., Demircioglu, Sinan, Kose, Melis, Gokce, Cumali, Ilhan, Osman, Kayikcioglu, Meral, Kaynar, Leyla G., Kuku, Irfan, Kurtoglu, Erdal, Okutan, Harika, Ozcebe, Osman I., Pekkolay, Zafer, Sag, Saim, Salcioglu, Osman Z., Temizhan, Ahmet, Yenercag, Mustafa, Yilmaz, Mehmet, Yilmaz Yasar, Hamiyet, Mitchenko, Olena, Lyons, Alexander R.M., Stevens, Christophe A.T., Brothers, Julie A., Hudgins, Lisa C., Nguyen, Christina, Alieva, Rano, Shek, Aleksandr, Do, Doan-Loi, Kim, Ngoc-Thanh, Le, Hong-An, Le, Thanh-Tung, Nguyen, Mai-Ngoc T., Truong, Thanh-Huong, Blom, Dirk J., Raal, Frederick J., and Cuchel, Marina
- Abstract
Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally.
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- 2022
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24. Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
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Vallejo-Vaz, A.J. Marco, M.D. Stevens, C.A.T. Akram, A. Freiberger, T. Hovingh, G.K. Kastelein, J.J.P. Mata, P. Raal, F.J. Santos, R.D. Soran, H. Watts, G.F. Abifadel, M. Aguilar-Salinas, C.A. Al-Khnifsawi, M. Alkindi, F.A. Alnouri, F. Alonso, R. Al-Rasadi, K. Al-Sarraf, A. Ashavaid, T.F. Binder, C.J. Bogsrud, M.P. Bourbon, M. Bruckert, E. Chlebus, K. Corral, P. Descamps, O. Durst, R. Ezhov, M. Fras, Z. Genest, J. Groselj, U. Harada-Shiba, M. Kayikcioglu, M. Lalic, K. Lam, C.S.P. Latkovskis, G. Laufs, U. Liberopoulos, E. Lin, J. Maher, V. Majano, N. Marais, A.D. März, W. Mirrakhimov, E. Miserez, A.R. Mitchenko, O. Nawawi, H.M. Nordestgaard, B.G. Paragh, G. Petrulioniene, Z. Pojskic, B. Postadzhiyan, A. Reda, A. Reiner, Ž. Sadoh, W.E. Sahebkar, A. Shehab, A. Shek, A.B. Stoll, M. Su, T.-C. Subramaniam, T. Susekov, A.V. Symeonides, P. Tilney, M. Tomlinson, B. Truong, T.-H. Tselepis, A.D. Tybjærg-Hansen, A. Vázquez-Cárdenas, A. Viigimaa, M. Vohnout, B. Widén, E. Yamashita, S. Banach, M. Gaita, D. Jiang, L. Nilsson, L. Santos, L.E. Schunkert, H. Tokgözoğlu, L. Car, J. Catapano, A.L. Ray, K.K. Schreier, L. Pang, J. Dieplinger, H. Hanauer-Mader, G. Desutter, J. Langlois, M. Mertens, A. Rietzschel, E. Wallemacq, C. Isakovic, D. Dzankovic, A.M. Obralija, J. Pojskic, L. Sisic, I. Stimjanin, E. Torlak, V.A. Jannes, C.E. Krieger, J.E. Pereira, A.C. Ruel, I. Asenjo, S. Cuevas, A. Pećin, I. Miltiadous, G. Panayiotou, A.G. Vrablik, M. Benn, M. Heinsar, S. Béliard, S. Gouni-Berthold, I. Hengstenberg, W. Julius, U. Kassner, U. Klose, G. König, C. König, W. Otte, B. Parhofer, K. Schatz, U. Schmidt, N. Steinhagen-Thiessen, E. Vogt, A. Antza, C. Athyros, V. Bilianou, E. Boufidou, A. Chrousos, G. Elisaf, M. Garoufi, A. Katsiki, N. Kolovou, G. Kotsis, V. Rallidis, L. Rizos, C. Skalidis, E. Skoumas, I. Tziomalos, K. Shawney, J.P.S. Abbaszadegan, M.R. Aminzadeh, M. Hosseini, S. Mobini, M. Vakili, R. Zaeri, H. Agar, R. Boran, G. Colwell, N. Crowley, V. Durkin, M. Griffin, D. Kelly, M. Rakovac-Tisdall, A. Bitzur, R. Cohen, H. Eliav, O. Ellis, A. Gavish, D. Harats, D. Henkin, Y. Knobler, H. Leavit, L. Leitersdorf, E. Schurr, D. Shpitzen, S. Szalat, A. Arca, M. Averna, M. Bertolini, S. Calandra, S. Tarugi, P. Erglis, A. Gilis, D. Nesterovics, G. Saripo, V. Upena-Roze, A. Elbitar, S. Jambart, S. Khoury, P.E. Gargalskaite, U. Kutkiene, S. Al-Khateeb, A. An, C.Y. Ismail, Z. Kasim, S. Ibrahim, K.S. Radzi, A.B.M. Kasim, N.A. Nor, N.S.M. Ramli, A.S. Razak, S.A. Muid, S. Rosman, A. Sanusi, A.R. Razman, A.Z. Nazli, S.A. Kek, T.L. Azzopardi, C. Aguilar Salinas, C.A. Galán, G. Rubinstein, A. Magaña-Torres, M.T. Martagon, A. Mehta, R. Wittekoek, M.E. Isara, A.R. Obaseki, D.E. Ohenhen, O.A. Holven, K.B. Gruchała, M. Baranowska, M. Borowiec-Wolny, J. Gilis-Malinowska, N. Michalska-Grzonkowska, A. Pajkowski, M. Parczewska, A. Romanowska-Kocejko, M. Stróżyk, A. Żarczyńska-Buchowiecka, M. Kleinschmidt, M. Alves, A.C. Medeiros, A.M. Ershova, A. Korneva, V. Kuznetsova, T. Malyshev, P. Meshkov, A. Rozhkova, T. Popovic, L. Lukac, S.S. Stosic, L. Rasulic, I. Lalic, N.M. Chua, T.S.J. Ting, S.P.L. Raslova, K. Battelino, T. Cevc, M. Jug, B. Kovac, J. Podkrajsek, K.T. Sustar, U. Trontelj, K.J. Marais, D. Isla, L.P. Martin, F.J. Charng, M.-J. Chen, P.-L. Kayikçioglu, M. Dell’oca, N. Fernández, G. Ressia, A. Reyes, X. Zelarayan, M. Alieva, R.B. Hoshimov, S.U. Nizamov, U.I. Kurbanov, R.D. Lima-Martínez, M.M. Nguyen, M.-N.T. Do, D.-L. Kim, N.-T. Le, T.-T. Le, H.-A.
- Abstract
Background and aims: Management of familial hypercholesterolaemia (FH) may vary across different settings due to factors related to population characteristics, practice, resources and/or policies. We conducted a survey among the worldwide network of EAS FHSC Lead Investigators to provide an overview of FH status in different countries. Methods: Lead Investigators from countries formally involved in the EAS FHSC by mid-May 2018 were invited to provide a brief report on FH status in their countries, including available information, programmes, initiatives, and management. Results: 63 countries provided reports. Data on FH prevalence are lacking in most countries. Where available, data tend to align with recent estimates, suggesting a higher frequency than that traditionally considered. Low rates of FH detection are reported across all regions. National registries and education programmes to improve FH awareness/knowledge are a recognised priority, but funding is often lacking. In most countries, diagnosis primarily relies on the Dutch Lipid Clinics Network criteria. Although available in many countries, genetic testing is not widely implemented (frequent cost issues). There are only a few national official government programmes for FH. Under-treatment is an issue. FH therapy is not universally reimbursed. PCSK9-inhibitors are available in ∼2/3 countries. Lipoprotein-apheresis is offered in ∼60% countries, although access is limited. Conclusions: FH is a recognised public health concern. Management varies widely across countries, with overall suboptimal identification and under-treatment. Efforts and initiatives to improve FH knowledge and management are underway, including development of national registries, but support, particularly from health authorities, and better funding are greatly needed. © 2018 Elsevier B.V.
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- 2018
25. Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study
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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.
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- 2018
26. In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia.
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Rabacchi, Claudio, Simone, Maria Luisa, Pisciotta, Livia, Di Leo, Enza, Bocchi, Davide, Pietrangelo, Antonello, D'Addato, Sergio, Bertolini, Stefano, Calandra, Sebastiano, and Tarugi, Patrizia
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APOLIPOPROTEINS ,FIBROBLASTS ,GENETIC disorders ,LIPID metabolism disorders ,RNA ,GENE expression profiling ,IN vitro studies - Abstract
Familial hypobetalipoproteinemia type 1 (FHBL-1) is a codominant disorder characterized by greatly reduced plasma levels of total cholesterol, low-density lipoprotein cholesterol, and apolipoprotein B. Rare exonic pathogenic variants of APOB gene (nonsense variants, minute deletions/insertions and nonsynonymous variants) have been frequently reported in subjects with FHBL-1. Also, rare intronic variants of APOB located at intron/exon junctions and assumed to affect splicing have been reported. However, the pathogenicity of most of these intronic variants remains to be established. The objective of this study was the in vitro functional characterization of six splicing variants of APOB gene identified in seven putative FHBL-1 heterozygotes. ApoB minigenes harboring each variant were expressed in COS-1 cells and their transcripts were sequenced. Four novel variants (c.237+1G>A, c.818+5G>A, c.3000-1G>T, and c.3842+1G>A), predicted in silico to obliterate splice site activity, were found to generate abnormal transcripts. The abnormal transcripts were generated by the activation of cryptic splice sites or exon skipping. All these transcripts harbored a premature termination codon and were predicted to encode truncated apoBs devoid of function. The predicted translation products were: i) p.(Lys41Serfs*2) and p.(Val80Ilefs*10) for c.237+1G>A; ii) p.(Asn274*) for c.818+5G>A; iii) p.(Leu1001Alafs*10) for c.3000-1G>T, and iv) p.(Ser1281Argfs*2) for c.3842+1G>A. Two previously annotated rare variants (c.905-15C>G and c.1618-4G>A) with uncertain effect in silico were found to generate only wild-type transcripts. These in vitro minigene expression studies support the assignment of pathogenicity to four novel splice site variants of APOB gene found in FHBL-1. • APOB gene variants may be the cause of familial hypobetalipoproteinemia (FHBL-1). • Six rare APOB intronic variants involving splice sites were found in FHBL-1 subjects. • The functional impact of each variant was assessed in vitro using minigene strategy. • Four variants were found to generate abnormal transcripts encoding truncated apoBs. [ABSTRACT FROM AUTHOR]
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- 2019
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27. Clinical and genetic features of familial hypercholesterolemia in pediatric patients: The lipigen Study
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Casula, M., primary, Plastina, A., additional, Galimberti, F., additional, Arca, M., additional, Averna, M., additional, Bertolini, S., additional, Calandra, S., additional, Tarugi, P., additional, and Catapano, A.L., additional
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- 2018
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28. Analysis of the in Vitro Translation Product of mRNA Coding for Chick Intestine Apolipoprotein A-I
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Ferrari, S., Drusiani, E., Tarugi, P., Calandra, S., Goldstein, Allan L., editor, Kumar, Ajit, editor, Bailey, J. Martyn, editor, and Gallo, Linda L., editor
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- 1987
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29. Analysis of Apolipoprotein A-I Synthesized in Vitro from Chick Intestinal mRNA
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Ferrari, St., Tarugi, P., Battini, R., Ghisellini, M., Calandra, S., Sirtori, C. R., editor, Nichols, A. V., editor, and Franceschini, G., editor
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- 1986
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30. Synthesis of Apolipoprotein A-I in the Skeletal Muscle of the Developing Chick
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Calandra, S., Tarugi, P., Sirtori, C. R., editor, Franceschini, G., editor, Brewer, H. B., Jr., editor, and Assmann, G., editor
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- 1989
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31. Erratum: Corrigendum to 'Molecular diagnosis of hypobetalipoproteinemia: An ENID review' (Atherosclerosis (2007) 192(2) (19–27)(S0021915007003280)(10.1016/j.atherosclerosis.2007.05.003))
- Author
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Tarugi, P., Averna, M., Di Leo, E., Cefalu, A. B., Noto, D., Magnolo, L., Cattin, L., Bertolini, S., and Calandra, S.
- Published
- 2016
32. FUNCTIONAL CHARACTERIZATION OF NOVEL AMINO ACID VARIANTS IN APOB IN FAMILIAL HYPOBETALIPOPROTEINEMIA
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Magnolo, AL, Pinotti, E, Di Leo, E, Yao, Z, Tarugi, P., VALENTI, Vincenza, CEFALU', Angelo Baldassare, AVERNA, Maurizio, Magnolo, AL, Pinotti, E, Di Leo, E, Valenti, V, Cefalù, AB, Yao, Z, Averna, M, and Tarugi, P
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Settore MED/09 - Medicina Interna ,missense variants ,FHBL - Abstract
Introduction. Familial Hypobetalipoproteinemia (FHBL) is a codominant disorder characterized by reduced levels of LDL and apolipoprotein B (apoB) in plasma. In approximately 50% of FHBL cases is due to mutations in APOB gene resulting in truncated apoBs of various size. Only a few missense mutations have been reported so far as the cause of FHBL. In vitro studies have shown that these mutations induce retention of the mutant apoB in the endoplasmic reticulum and impair the secretion of apoB-containing lipoproteins. We identi ed two novel amino acid variants (Thr26-27del and Tyr102Cys) located in the N-terminal 1000 amino acids of mature apoB in two hypocholesterolemic blood donors. Methods. To investigate the functional effect of these variants we constructed plasmids containing human apoB-48 cDNAs harbouring the novel mutations. Rat hepatoma cells (McA-RH7777) were transiently and stably transfected with wild-type or the mutant forms of human apoB-48. The secretion ef ciency of human apoB- 48 was determined by immunoblotting with human anti-apoB and the incorporation of apoB into medium lipoproteins. Immunocytochemistry was used to monitor the intracellular localization of the mutant proteins. The post-translational stability and the intracellular degradation pathways of mutant apoB-48 was evaluated.Results and Conclusions. The mutation Tyr102Cys had no effect on apoB-48 secretion. The mutant apoB-48-Thr26-27del almost entirely abolished the secretion of apoB-48 and apoB-containing lipoproteins in the medium, suggesting that the deletion of two amino acids alters the structure of the beta-barrel (the rst 267 amino acids) of N-terminal domain of apoB. This mutant apoB-48 appears to be retained in endoplasmic reticulum. The addiction of a proteasome inhibitor partially blocked the decay of cellular apoB-48-Thr26-27del suggesting that a signi cant proportion of the mutant protein was degraded by the proteasomal pathway. The role of autophagy in the degradation of the mutant apoB was excluded.
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- 2013
33. Genetic heterogeneity of primary hpobetalipoproteinemia reveald by the next generation sequencing (NGS)
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Di Leo, E., primary, Simone, M.L., additional, Artuso, L., additional, Bernardis, I., additional, Tagliafico, E., additional, and Tarugi, P., additional
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- 2017
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34. Molecular diagnosis of primary hypertriglyceridemias by next generation sequencing (NGS): Preliminary results and open questions
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Rabacchi, C., primary, Tenedini, E., additional, Bernardis, I., additional, Simone, M.L., additional, Tagliafico, E., additional, and Tarugi, P., additional
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- 2017
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35. A NOVEL APOB MUTATION IDENTIFIED BY EXOME SEQUENCING COSEGREGATES WITH STEATOSIS, LIVER CANCER AND HYPOCHOLESTEROLEMIA
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SPINA, Rossella, CEFALU', Angelo Baldassare, ALTIERI, Grazia Ida, VALENTI, Vincenza, FAYER, Francesca, PALESANO, Ornella, AVERNA, Maurizio, Pirruccello, JP, Noto, D, Gabriel, S, Gupta, N, Tarugi, P, Kathiresan, S, Spina, R, Cefalù AB, Pirruccello, JP, Altieri, GI, Noto, D, Gabriel, S, Valenti, V, Gupta, N, Fayer, F, Palesano, O, Tarugi, P, Kathiresan, S, and Averna, M
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Settore MED/09 - Medicina Interna ,FHBL ,HCC ,fatty liver - Abstract
Objective. In familial hypobetalipoproteinemia (FHBL), fatty liver is a characteristic feature, and there are several reports of associated cirrhosis and hepatocarcinoma. We investigated a large kindred in which low-density lipoprotein (LDL) cholesterol, fatty liver and hepatocarcinoma displayed an autosomal dominant pattern of inheritance. Approach and Results. The proband was a 25 year-old female with low plasma cholesterol and hepatic steatosis. Low plasma levels of total cholesterol and fatty liver were observed in 10 more family members; 1 member was affected by liver cirrhosis and four more subjects died of either hepatocarcinoma or carcinoma on cirrhosis. To identify the causal mutation in this family, we performed exome sequencing in two participants with hypocholesterolemia and fatty liver. Approximately 22,400 single nucleotide variants were identi- ed in each sample. After variant ltering, 300 novel shared variants remained. A nonsense variant, p.K2240X due to an A>T mutation in exon 26 of APOB (c.6718A>T) was identi ed and this variant was con rmed by Sanger sequencing. The gentotypic analysis of 16 family members in total showed that this mutation segregated with the low cholesterol trait. In addition, genotyping of the PNPLA3 p.I148M did not show signi cant frequency differences between carriers and non-carriers of the c.6718A>T APOB gene mutation. Conclusions. We used exome sequencing to discover a novel nonsense mutation in exon 26 of APOB (p.K2240X) responsible for low cholesterol and fatty liver in a large kindred. This mutation may also be responsible for cirrhosis and liver cancer in this family.
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- 2013
36. Novel mutations of SAR1B gene in four children with chylomicron retention disease.
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Simone, Maria Luisa, Rabacchi, Claudio, Kuloglu, Zarife, Kansu, Aydan, Ensari, Arzu, Demir, Arzu Meltem, Hizal, Gulin, Di Leo, Enza, Bertolini, Stefano, Calandra, Sebastiano, and Tarugi, Patrizia
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GENETIC disorder diagnosis ,MALNUTRITION ,CARRIER proteins ,CELIAC disease ,CONSANGUINITY ,EPITHELIAL cells ,GENETIC disorders ,LIPID metabolism disorders ,MALABSORPTION syndromes ,MESSENGER RNA ,GENETIC mutation ,SEVERITY of illness index ,SEQUENCE analysis ,DISEASE complications - Abstract
Intestinal lipid malabsorption, resulting from an impaired formation or secretion of chylomicrons and associated with severe hypobetalipoproteinemia (HBL), may be due to biallelic mutations in APOB (homozygous FHBL type-1), MTTP (abetalipoproteinemia), or SAR1B (chylomicron retention disease). We investigated four children, each born from consanguineous parents, presenting with steatorrhea, malnutrition, accumulation of lipids in enterocytes, and severe hypocholesterolemia with an apparent recessive transmission. We sequenced a panel of genes whose variants may be associated with HBL. Case 1, a 9-month-old male, was found to be homozygous for a SAR1B variant (c.49 C>T), predicted to encode a truncated Sar1b protein devoid of function (p.Gln17*). Case 2, a 4-year-old male, was found to be homozygous for a SAR1B missense variant [c.409 G>C, p.(Asp137His)], which affects a highly conserved residue close to the Sar1b guanosine recognition site. Case 3, a 6-year-old male, was found to be homozygous for an ∼6 kb deletion of the SAR1B gene, which eliminates exon 2; this deletion causes the loss of the ATG translation initiation codon in the SAR1B mRNA. The same homozygous mutation was found in an 11-month-old child (case 4) who was related to case 3. We report 4 children with intestinal lipid malabsorption were found to have chylomicron retention disease due to 3 novel variants in the SAR1B gene. • Phenotype of children with lipid malabsorption and recessive hypobetalipoproteinemia. • Analysis of MTTP and SAR1B candidate genes for recessive hypobetalipoproteinemia. • Identification of three new SAR1B gene mutations causing chylomicron retention disease. [ABSTRACT FROM AUTHOR]
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- 2019
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37. FUNCTIONAL EFFECT OF NOVEL AMINO ACID VARIANTS OF APOLIPOPROTEIN B IN FAMILIAL HYPOBETALIPOPROTEINEMIA
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Magnolo, AL, Fancello, T, Pinotti, E, Tarugi, P., VALENTI, Vincenza, CEFALU', Angelo Baldassare, AVERNA, Maurizio, Magnolo, AL, Fancello, T, Pinotti, E, Valenti, V, Cefalù, AB, Averna, M, and Tarugi, P
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missense mutations ,Settore MED/09 - Medicina Interna ,FHBL - Abstract
Introduction. Familial Hypobetalipoproteinemia (FHBL) is a codominant disorder characterized by reduced plasma levels of LDL-C and apolipoprotein (apo) B. In 50% of cases FHBL is due to mutations in APOB gene resulting in truncated apoBs of various size. Some mutations in APOB gene resulting in non-conservative amino acid substitutions were reported to cause FHBL. In vitro, these mutations induce the retention of the mutant apoB in the endoplasmic reticulum (ER) and impair the secretion of apoB-containing lipoproteins. In two FHBL subjects we identified two novel amino acid variants (Thr26_27delinsAsn and Tyr102Cys) located in the N-terminal 1000 amino acids of mature apoB. Methods. To investigate the functional effect of these mutations we constructed plasmids containing human apoB-48 cDNAs harbouring the mutations. McA-RH7777 rat hepatoma cells were transiently and stably transfected with wild type or mutant human apoB-48. The secretion efficiency of human apoB-48 was determined by immunoblotting. To evaluate whether the mutant apoB- 48 was able to form apoB-containing lipoproteins, the incubation media were ultracentrifuged to separate the lipoprotein classes. Immunocytochemistry was used to assess the intracellular localization of the mutant proteins. Results. The mutation Thr26_27delinsAsn strongly reduces the secretion of apoB-48 from the transfected cells. The mutant apoB- 48 appears to be retained in ER as demonstrated by the confocal images showing co-localization of the mutant apoB with the ER marker. In stably transfected cells the defect of mutant apoB-48 secretion was confirmed by the absence of apoB-48 containing lipoproteins in the medium. These observations suggest that Thr26_27delinsAsn alters the structure of the beta-barrel of N-terminal domain of apoB (the first 267 amino acids of mature protein) preventing the secretion of apoB-containing lipoproteins. By contrast the mutation Tyr102Cys had no effect on apoB-48 secretion. Conclusions. This finding supports the notion that Thr26_27 delinsAsn is the cause of FHBL.
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- 2011
38. PREVALENCE OF ANGPTL3 AND APOB GENE MUTATIONS IN SUBJECTS WITH COMBINED HYPOLIPIDEMIA
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SPINA, Rossella, CEFALU', Angelo Baldassare, NOTO, Davide, VALENTI, Vincenza, FAYER, Francesca, DITTA, Mariangela, AVERNA, Maurizio, Pinotti E, Vigna G, Yue P, Schonfeld G, Kathiresan S, Tarugi P, Spina R, Cefalù AB, Noto D, Valenti V, Fayer, F, Pinotti E, Ditta M, Vigna G, Yue P, Schonfeld G, Kathiresan S, Tarugi P, and Averna M
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Settore MED/09 - Medicina Interna ,ANGPTL3 - Abstract
Introduction. Mutations of the ANGPTL3 gene have been found responsible for a novel form of primary hypobetalipoproteinemia (pHBL), the combined hypolipidemia, characterized by low total cholesterol (TC) and low HDL-cholesterol (HDL-C) levels. The aim of this work is to define the role of ANGPTL3 gene as determinant of the combined hypolipidemia phenotype in two large cohorts of 913 American and Italian subjects with primary hypobetalipoproteinemia (TC
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- 2011
39. MUTATIONS IN THE CETP GENE IN ITALIAN SUBJECTS WITH HYPERALPHALIPOPROTEINEMIA
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CEFALU', Angelo Baldassare, BARBAGALLO, Carlo Maria, AVERNA, Maurizio, DI LEO E, MARTINI S, VIGNA G, NOTO D, MAGNOLO L, TARUGI P, CEFALU' AB, DI LEO E, MARTINI S, VIGNA G, NOTO D, MAGNOLO L, BARBAGALLO CM, TARUGI P, and AVERNA MR
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- 2007
40. A NOVEL LOSS OF FUCTION MUTATION OF PCSK9 GENE IN CAUCASIANS WITH LOW PLASMA LDL-CHOLESTEROL
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FASANO T, DI LEO E, NOTO D, BOCCHI L, GUARDAMAGNA O, TARUGI P., CEFALU', Angelo Baldassare, POLLACCIA, Daniela, VALENTI, Vincenza, AVERNA, Maurizio, FASANO T, CEFALU' AB, DI LEO E, NOTO D, POLLACCIA D, BOCCHI L, VALENTI V, GUARDAMAGNA O, AVERNA M, and TARUGI P
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- 2007
41. GENETIC HETEROGENEITY OF SEVERE HYPOBETALIPOPROTEINEMIA
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DI LEO E, MAGNOLO L, PINOTTI E, NOTO D, TARUGI P., CEFALU', Angelo Baldassare, AVERNA, Maurizio, DI LEO E, MAGNOLO L, PINOTTI E, CEFALU AB, NOTO D, AVERNA MR, and TARUGI P
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- 2007
42. A NOVEL LOSS OF FUNCTION MUTATION OF PCSK9 GENE
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Fasano, T, Bocchi, L, Di leo, E, Cefalù, B, Noto, D, Valenti, V, Guardamagna, Ornella, Calandra, S, Averna, M, Tarugi, P., FASANO T, BOCCHI L, DI LEO E, CEFALU' AB, NOTO D, VALENTI V, GUARDAMAGNA O, CALANDRA S, AVERNA MR, and TARUGI P
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LDLR gene ,PCSK9 gene ,loss of function ,missense mutation ,LDL-C ,hypocholesterolemic effect - Published
- 2006
43. PREVALENCE OF APOB VARIANTS IN A SAMPLE OF SUBJECTS WITH HYPOCHOLESTEROLEMIA
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CEFALU', Angelo Baldassare, POLLACCIA, Daniela, VIVONA, Nicoletta, VALENTI, Vincenza, BARRACO, Giacoma, ONORATO, Karoly, TOIA, Giuseppe, FAYER, Francesca, MINA', Mariangela, BARBAGALLO, Carlo Maria, NOTARBARTOLO, Alberto, AVERNA, Maurizio, SAORIN, L, NOTO, D, AGLIASTRO, R, TARUGI, P, CEFALU, AB, POLLACCIA, D, VIVONA, N, SAORIN, L, VALENTI, V, BARRACO, G, NOTO, D, ONORATO, K, TOIA, G, FAYER, F, MINA, M, BARBAGALLO, C, AGLIASTRO, R, NOTARBARTOLO, A, TARUGI, P, and AVERNA, MR
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- 2005
44. Qualitative Analyse: Analysengänge, Trennungsmethoden und Reaktionen
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Purgotti, A., Clarens, J., Macri, V., Hinds, J. I. D., Browning, Ph. E., Scott, S. E., Simpson, G. S., Porter, L. E., Polonovski, M., Zepf, K., Tarugi, N., Curtman, L. J., Dubin, H., Vivario, R., Wagenaar, M., Schoorl, N., Saul, J. E., Crawford, D., Fischer, W. M., Bamberger, E., Pasquali, A., Eisenlohr, F., Kunz-Krause, H., Lutz, O., Jacoby, J., Caron, H., Raquet, D., Hermans, P. H., Vernon, C. G., Kolthoff, J. M., Romijn, G., Rupp, E., Beck, J. E., Mazuir, A., Hulot, P., Job, P., Urbain, G., and Bolland, A.
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- 1925
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45. Bestimmung des Jods
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Gooch, F. A., Perkins, E. E., Tarugi, N., Godfrin, P., Stüwe, P., Fresenius, H., and Lasausse, E.
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- 1921
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46. Quecksilbernachweis
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Kolthoff, J. M., Thiel, A., Roche, D. A., Reichard, C., Tarugi, N., Bräuer, P., Hurt, H., Siemssen, J. A., Artmann, P., Abelmann, A., Moore, H., Beckinsale, S., and Mallinson, Clarice E.
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- 1923
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47. Zur Bestimmung des Stickstoffs in Düngemitteln
- Author
-
Scharrer, K., Kürschner, K., Sander, A., Kolthoff, J. M., Burkardt, H., Tarugi, N., Mach, F., Müller, H. C., Selke, W., Fresenius, R., and Verbandes landwirtschaftlicher Versuchsstationen im Deutschen Reiche
- Published
- 1926
- Full Text
- View/download PDF
48. Hypoalpha-hypobetalipoproteinemia (Familial Combined Hypolipidemia) caused by loss of function mutations of ANGPTL3 gene
- Author
-
Pisciotta, L, Di Leo, E, Tarugi, P, Fresa, R, Zavaroni, I, Ardigò, D, Guido, V, Bertolini, S, and Calandra, S
- Published
- 2011
49. Novel LMF1 nonsense mutation in a patient with severe hypetriglyceridemia
- Author
-
Cefalù, Ab, Noto, D, Arpi, M. L., Yin, F, Spina, R, Hilden, A, Barbagallo, Cm, Carroccio, A, Tarugi, P, Squatrito, Sebastiano, Vigneri, R, Taskinen, M, Peterfy, M, and Averna, M.
- Subjects
Hypertriglyceridemia ,Cardiovascular Disease ,Novel Mutation - Published
- 2009
50. Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinemia
- Author
-
DI LEO, E, Magnolo, L, Lancellotti, S, Croce, L, Visintin, L, Tiribelli, C, Bertolini, Stefano, Calandra, S, and Tarugi, P.
- Published
- 2007
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