Search

Your search keyword '"Aiello, Valeria"' showing total 37 results
Start Over Author "Aiello, Valeria" Search Limiters Available in Library Collection
37 results on '"Aiello, Valeria"'

1. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.

Published
2024
Full Text
View/download PDF

3. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.

Published
2021
Full Text
View/download PDF

4. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1)

Author

Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S., Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.

Published
2024

5. Circulating miR-184 is a potential predictive biomarker of cardiac damage in Anderson–Fabry disease

Author

Salamon, Irene, Biagini, Elena, Kunderfranco, Paolo, Roncarati, Roberta, Ferracin, Manuela, Taglieri, Nevio, Nardi, Elena, Laprovitera, Noemi, Tomasi, Luciana, Santostefano, Marisa, Ditaranto, Raffaello, Vitale, Giovanni, Cavarretta, Elena, Pisani, Antonio, Riccio, Eleonora, Aiello, Valeria, Capelli, Irene, La Manna, Gaetano, Galiè, Nazzareno, Spinelli, Letizia, and Condorelli, Gianluigi

Published
2021
Full Text
View/download PDF

6. No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant.

Author

Capelli, Irene, Di Costanzo, Roberta, Aiello, Valeria, Lerario, Sarah, De Giovanni, Paola, Montevecchi, Marcello, Cerretani, Davide, Donadio, Vincenzo, La Manna, Gaetano, and Mignani, Renzo

Subjects
ANGIOKERATOMA corporis diffusum, GENETIC variation, LYSOSOMAL storage diseases, SYMPTOMS, GLYCOSPHINGOLIPIDS
Abstract

Background: Fabry disease (FD) is a rare X‐linked lysosomal storage disorder caused by variants in GLA gene leading to deficient α‐galactosidase A enzyme activity. This deficiency leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), in various tissues and organs, which can result in life‐threatening complications. The clinical presentation of the disease can vary from the "classic" phenotype with pediatric onset and multi‐organ involvement to the "later‐onset" phenotype, which presents with predominantly cardiac symptoms. In recent years, advances in screening studies have led to the identification of an increasing number of variants of unknown significance that have not yet been described, and whose pathogenic role remains undetermined. Methods: In this clinical report, we describe the case of an asymptomatic adult female who was found to have a new variant of unknown significance, p.Met70Val. Given the unknown pathogenic role of this variant, a thorough analysis of the potential organ involvement was conducted. The clinical data were analyzed retrospectively. Results: The analysis revealed that there were no signs of significant organ involvement, and the benignity of the variant was confirmed. Conclusion: This case underscores the importance of a comprehensive evaluation of new variants of unknown significance to establish their pathogenicity accurately. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

7. DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.

Author

Aiello, Valeria, Ciurli, Francesca, Conti, Amalia, Cristalli, Carlotta Pia, Lerario, Sarah, Montanari, Francesca, Sciascia, Nicola, Vischini, Gisella, Fabbrizio, Benedetta, Di Costanzo, Roberta, Olivucci, Giulia, Pietra, Andrea, Lopez, Antonia, Zambianchi, Loretta, La Manna, Gaetano, and Capelli, Irene

Subjects
*POLYCYSTIC kidney disease, *CYSTIC kidney disease, *GENETIC variation
Abstract

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a late-onset cilia-related disorder, characterized by progressive cystic enlargement of the kidneys. It is genetically heterogeneous with PKD1 and PKD2 pathogenic variants identified in approximately 78% and 15% of families, respectively. More recently, additional ADPKD genes, such as DNAJB11, have been identified and included in the diagnostic routine test for renal cystic diseases. However, despite recent progress in ADPKD molecular approach, approximately ~7% of ADPKD-affected families remain genetically unresolved. We collected a cohort of 4 families from our center, harboring heterozygous variants in the DNAJB11 gene along with clinical and imaging findings consistent with previously reported features in DNAJB11 mutated patients. Mutations were identified as likely pathogenetic (LP) in three families and as variants of uncertain significance (VUS) in the remaining one. One patient underwent to kidney biopsy and showed a prevalence of interstitial fibrosis that could be observed in ~60% of the sample. The presence in the four families from our cohort of ADPKD characteristics together with ADTKD features, such as hyperuricemia, diabetes, and chronic interstitial fibrosis, supports the definition of DNAJB11 phenotype as an overlap disease between these two entities, as originally suggested by the literature. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

9. #5496 EVALUATION OF THE PREDICTIVE ABILITY AND CONCORDANCE OF PROGNOSTIC SCORES FOR RAPID PROGRESSION IN ADPKD: A MULTICENTER COHORT

Author

Aiello, Valeria, primary, Elhassan, Elhussein, additional, Cristalli, Carlotta, additional, Minicucci, Andreina, additional, Vella, Anna, additional, Ciurli, Francesca, additional, Montanari, Francesca, additional, Conti, Amalia, additional, Benson, Katherine, additional, Seri, Marco, additional, Sciascia, Nicola, additional, Schönauer, Ria Anne-Rose, additional, Halbritter, Jan, additional, La Manna, Gaetano, additional, Conlon, Peter, additional, and Capelli, Irene, additional

Published
2023
Full Text
View/download PDF

10. Impact of Baseline Clinical Variables on SGLT2i’s Antiproteinuric Effect in Diabetic Kidney Disease

Author

Capelli, Irene, primary, Ribichini, Danilo, additional, Provenzano, Michele, additional, Vetrano, Daniele, additional, Aiello, Valeria, additional, Cianciolo, Giuseppe, additional, Vicennati, Valentina, additional, Tomassetti, Alessandro, additional, Moschione, Ginevra, additional, Berti, Sabrina, additional, Pagotto, Uberto, additional, and La Manna, Gaetano, additional

Published
2023
Full Text
View/download PDF

11. Valutazione della concordanza e della capacità predittiva degli score prognostici per la definizione di rapida progressione della malattia renale conica nei pazienti con malattia policistica epato renale. Analisi di una coorte multicentrica.

Author

La Manna, Gaetano, Aiello, Valeria <1987>, La Manna, Gaetano, and Aiello, Valeria <1987>

Abstract

Introduzione: La malattia policistica autosomica dominante (ADPKD) è una causa comune di malattia renale terminale (ESKD). È caratterizzata dallo sviluppo di cisti renali bilaterali che aumentano progressivamente di volume. Il Tolvaptan viene prescritto in base a 3 criteri: volume renale totale (HtTKV) e Mayo Clinic Imaging Class (MCIC), tasso di declino dell'eGFR e al Predicting Renal Outcome in Polycystic Kidney Disease (PROPKD), che combina variabili cliniche e genetiche. In questa coorte multicentrica retrospettiva, l'obiettivo era di valutare e migliorare la concordanza di sensibilità e specificità predittive di MCIC e PROPKD. Metodi: I dati di pazienti adulti affetti da ADPKD sono stati ottenuti da 2 centri di Bologna (B) e Dublino (D). Abbiamo definito RP un calo dell'eGFR ≥3 mL/min/1,73m2/anno su 4 anni (Clinical Score), o classi MCIC 1C-D-E, o punteggio PROPKD da 7 a 9. Per i parametri clinici sono state utilizzate statistiche descrittive. La concordanza tra i punteggi è stata valutata tramite la statistica Kappa. Nelle varianti missenso di PKD1, il punteggio REVEL è stato trattato come una variabile continua; (>0,65 patogeno'). Risultati: Abbiamo valutato 201 pazienti con ADPKD. Il Propkd e il MCIC erano rispettivamente: 90% specifico e 31,3% sensibile; 89,6% sensibile e 28,6% specifico per identificare il calo dell'eGFR. Kappa di Cohen era di 0,025. Il 47,9% (n=143) è risultato concorde. Il punteggio Revel applicato alle mutazioni PKD1NT identifica da 15 a 19 pazienti che potrebbero avere una RP. L'analisi multivariata mostra dati statisticamente significativi per HB (p:0,016), eventi urologici (p: 0,005) e MCIC (p: 0,074). Conclusioni: La concordanza tra i punteggi risulta bassa. Il PROPKD è più selettivo rispetto al Mayo. Tuttavia, il PROPKD permette di identificare alcune RP escluse dall'uso del solo MCIC. L'uso combinato dei punteggi può aumentare la capacità di identificare le RP. Il punteggio REVEL potrebbe migliorare questa concordanza, Background: Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of end-stage kidney disease (ESKD). It is characterized by the progressive development of bilateral renal cysts, resulting in enlargement of the kidney volume and ESKD. Tolvaptan therapy is prescribed according to 3 criteria: total kidney volume (HtTKV) and Mayo Clinic Imaging Class (MCIC), rate of decline in eGFR, and the Predicting Renal Outcome in Polycystic Kidney Disease (PROPKD) score, combining clinical and genetic variables. In this retrospective multicentric cohort, the aim was evaluate and improve the concordance of sensitivity and specificity of MCIC and PROPKD predictive abilities for rapid progressor (RP). Method: Data from adult ADPKD patients were obtained from 2 centers Bologna (B), Dublin(D). We defined RP an eGFR slope ≥3 mL/min/1.73m2/ yearly over 4 years (Clinical Score), or MCIC classes 1C-D-E, or PROPKD score 7 to 9. Descriptive statistics were used to clinical parameters. The concordance between scores was assessed using Kappa statistics. In PKD1 missense variants, the REVEL score was treated as a continuous variable; (>0.65 pathogenic’). Results: We evaluated 201 ADPKD patients. The Propkd and MCIC were respectively: 90% specific and 31,3% sensitive; 89.6% sensitive and 28.6% specific in order to identify a eGFR slope. Assessment of RP using PROPKD, and Mayo scores yielded Kappa Cohen of 0,025 47.9% (n=143) were concordant. The Revel score applied to PKD1NT mutations identifies 15 to 19 patients who may have a RP. Multivariate analysis shows statistically significant data for HB (p:0.016), events urological (p: 0.005) and MCIC (p: 0.074). Conclusion: Concordance between scores results low. The PROPKD is more selective compared to the Mayo. Nevertheless, PROPKD allows the identification of some PR excluded from using the MCIC only. The combined use of scoring may increase the ability to identify RP. REVEL score could improve this agreement.

Published
2023

12. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Savige, Judy, primary, Storey, Helen, additional, Watson, Elizabeth, additional, Hertz, Jens Michael, additional, Deltas, Constantinos, additional, Renieri, Alessandra, additional, Mari, Francesca, additional, Hilbert, Pascale, additional, Plevova, Pavlina, additional, Byers, Peter, additional, Cerkauskaite, Agne, additional, Gregory, Martin, additional, Cerkauskiene, Rimante, additional, Ljubanovic, Danica Galesic, additional, Becherucci, Francesca, additional, Errichiello, Carmela, additional, Massella, Laura, additional, Aiello, Valeria, additional, Lennon, Rachel, additional, Hopkinson, Louise, additional, Koziell, Ania, additional, Lungu, Adrian, additional, Rothe, Hansjorg Martin, additional, Hoefele, Julia, additional, Zacchia, Miriam, additional, Martic, Tamara Nikuseva, additional, Gupta, Asheeta, additional, van Eerde, Albertien, additional, Gear, Susie, additional, Landini, Samuela, additional, Palazzo, Viviana, additional, al-Rabadi, Laith, additional, Claes, Kathleen, additional, Corveleyn, Anniek, additional, Van Hoof, Evelien, additional, van Geel, Micheel, additional, Williams, Maggie, additional, Ashton, Emma, additional, Belge, Hendica, additional, Ars, Elisabeth, additional, Bierzynska, Agnieszka, additional, Gangemi, Concetta, additional, and Lipska-Ziętkiewicz, Beata S., additional

Published
2023
Full Text
View/download PDF

14. Guidelines for Genetic Testing and Management of Alport Syndrome

Author

Genetica Klinische Genetica, Child Health, Cancer, Savige, Judy, Lipska-Zietkiewicz, Beata S, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, Al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabet, Bierzynska, Agnieszka, Gangemi, Concetta, Renieri, Alessandra, Storey, Helen, Flinter, Frances, Genetica Klinische Genetica, Child Health, Cancer, Savige, Judy, Lipska-Zietkiewicz, Beata S, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, Al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabet, Bierzynska, Agnieszka, Gangemi, Concetta, Renieri, Alessandra, Storey, Helen, and Flinter, Frances

Published
2022

16. Guidelines for Genetic Testing and Management of Alport Syndrome

Author

Savige, Judy, primary, Lipska-Zietkiewicz, Beata S., additional, Watson, Elizabeth, additional, Hertz, Jens Michael, additional, Deltas, Constantinos, additional, Mari, Francesca, additional, Hilbert, Pascale, additional, Plevova, Pavlina, additional, Byers, Peter, additional, Cerkauskaite, Agne, additional, Gregory, Martin, additional, Cerkauskiene, Rimante, additional, Ljubanovic, Danica Galesic, additional, Becherucci, Francesca, additional, Errichiello, Carmela, additional, Massella, Laura, additional, Aiello, Valeria, additional, Lennon, Rachel, additional, Hopkinson, Louise, additional, Koziell, Ania, additional, Lungu, Adrian, additional, Rothe, Hansjorg Martin, additional, Hoefele, Julia, additional, Zacchia, Miriam, additional, Martic, Tamara Nikuseva, additional, Gupta, Asheeta, additional, van Eerde, Albertien, additional, Gear, Susie, additional, Landini, Samuela, additional, Palazzo, Viviana, additional, al-Rabadi, Laith, additional, Claes, Kathleen, additional, Corveleyn, Anniek, additional, Van Hoof, Evelien, additional, van Geel, Micheel, additional, Williams, Maggie, additional, Ashton, Emma, additional, Belge, Hendica, additional, Ars, Elisabet, additional, Bierzynska, Agnieszka, additional, Gangemi, Concetta, additional, Renieri, Alessandra, additional, Storey, Helen, additional, and Flinter, Frances, additional

Published
2022
Full Text
View/download PDF

19. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S., Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.

Published
2021

21. MO520SARS-COVID19 INFECTION AT VARIOUS STAGES OF KIDNEY DISEASE: A SINGLE CENTRE EXPERIENCE

Author

Napoli, Marianna, primary, Donati, Gabriele, additional, Gasperoni, Lorenzo, additional, Zappulo, Fulvia, additional, Aiello, Valeria, additional, Scrivo, Anna, additional, Busutti, Marco, additional, Ruggeri, Marco, additional, Di Filippo, Federica, additional, Lerario, Sarah, additional, Bini, Claudia, additional, Tondolo, Francesco, additional, Stefanini, Carlo, additional, Comai, Giorgia, additional, and La Manna, Gaetano, additional

Published
2021
Full Text
View/download PDF

24. Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

Author

Mantovani, Vilma, primary, Bin, Sofia, additional, Graziano, Claudio, additional, Capelli, Irene, additional, Minardi, Raffaella, additional, Aiello, Valeria, additional, Ambrosini, Enrico, additional, Cristalli, Carlotta Pia, additional, Mattiaccio, Alessandro, additional, Pariali, Milena, additional, De Fanti, Sara, additional, Faletra, Flavio, additional, Grosso, Enrico, additional, Cantone, Rachele, additional, Mancini, Elena, additional, Mencarelli, Francesca, additional, Pasini, Andrea, additional, Wischmeijer, Anita, additional, Sciascia, Nicola, additional, Seri, Marco, additional, and La Manna, Gaetano, additional

Published
2020
Full Text
View/download PDF

26. Biomarkers of Kidney Injury in Very-low-birth-weight Preterm Infants: Influence of Maternal and Neonatal Factors

Author

CAPELLI, IRENE, primary, VITALI, FRANCESCA, additional, ZAPPULO, FULVIA, additional, MARTINI, SILVIA, additional, DONADEI, CHIARA, additional, CAPPUCCILLI, MARIA, additional, LEONARDI, LUCA, additional, GIRARDI, ANNA, additional, AIELLO, VALERIA, additional, GALLETTI, SILVIA, additional, FALDELLA, GIACOMO, additional, POLUZZI, ELISABETTA, additional, DE PONTI, FABRIZIO, additional, and GAETANO, LA MANNA, additional

Published
2020
Full Text
View/download PDF

27. An in vitro model of renal inflammation after ischemic oxidative stress injury: nephroprotective effects of a hyaluronan ester with butyric acid on mesangial cells

Author

Baraldi,Olga, Bianchi,Francesca, Menghi,Viola, Angeletti,Andrea, Croci Chiocchini,Anna Laura, Cappuccilli,Maria, Aiello,Valeria, Comai,Giorgia, La Manna,Gaetano, Baraldi,Olga, Bianchi,Francesca, Menghi,Viola, Angeletti,Andrea, Croci Chiocchini,Anna Laura, Cappuccilli,Maria, Aiello,Valeria, Comai,Giorgia, and La Manna,Gaetano

Abstract

Olga Baraldi,1 Francesca Bianchi,2,3 Viola Menghi,1 Andrea Angeletti,1 Anna Laura Croci Chiocchini,1 Maria Cappuccilli,1 Valeria Aiello,1 Giorgia Comai,1 Gaetano La Manna1 1Department of Experimental, Diagnostic and Specialty Medicine, Nephrology, Dialysis and Renal Transplant Unit, Sant’Orsola-Malpighi Hospital, University of Bologna, Bologna, 2Stem Wave Institute for Tissue Healing, Gruppo Villa Maria Care & Research – Ettore Sansavini Health Science Foundation, Lugo, Ravenna, 3National Institute of Biostructures and Biosystems at the Department of Experimental, Diagnostic and Specialty Medicine, Sant’Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy Background: Acute kidney injury, known as a major trigger for organ fibrosis and independent predictor of chronic kidney disease, is characterized by mesangial cell proliferation, inflammation and unbalance between biosynthesis and degradation of extracellular matrix. Therapeutic approaches targeting the inhibition of mesangial cell proliferation and matrix expansion may represent a promising opportunity for the treatment of kidney injury. An ester of hyaluronic acid and butyric acid (HB) has shown vasculogenic and regenerative properties in renal ischemic-damaged tissues, resulting in enhanced function recovery and minor degree of inflammation in vivo. This study evaluated the effect of HB treatment in mesangial cell cultures exposed to H2O2-induced oxidative stress.Materials and methods: Lactate dehydrogenase release and caspase-3 activation were measured using mesangial cells prepared from rat kidneys to assess necrosis and apoptosis. Akt and p38 phosphorylation was analyzed to identify the possible mechanism underlying cell response to HB treatment. The relative expressions of matrix metallopeptidase 9 (MPP-9) and collagen type 1 alpha genes were also analyzed by quantitative real-time polymerase chain reaction. Cell proliferation rate and viability were measured

Published
2017

28. Identification of expanded T-cell clones by spectratyping in nonfunctioning kidney transplants

Author

Cappuccilli,Maria, Donati,Gabriele, Comai,Giorgia, Baraldi,Olga, Conte,Diletta, Capelli,Irene, Aiello,Valeria, Pession,Andrea, La Manna,Gaetano, Cappuccilli,Maria, Donati,Gabriele, Comai,Giorgia, Baraldi,Olga, Conte,Diletta, Capelli,Irene, Aiello,Valeria, Pession,Andrea, and La Manna,Gaetano

Abstract

Maria Cappuccilli,1 Gabriele Donati,1 Giorgia Comai,1 Olga Baraldi,1 Diletta Conte,1 Irene Capelli,1 Valeria Aiello,1 Andrea Pession,2 Gaetano La Manna1 1Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis, and Renal Transplant Unit, 2Molecular Laboratory of Pediatrics, Hematology–Oncology Unit, St Orsola Hospital, University of Bologna, Bologna, Italy Background: The aim of this study was the application of complementarity-determining region-3 spectratyping analysis to determine T-cell-repertoire complexity and to detect T-cell-clone expansion, as a measure of immune response in nonfunctioning kidney transplants (group hemodialysis-transplant [HD-Tx]), nontransplanted dialysis patients (group hemodialysis [HD]), and normal subjects as controls (group C).Patients and methods: Analysis of T-cell receptor (TCR) diversity by spectratyping was applied to peripheral blood samples collected from 21 subjects: eight in group HD-Tx, seven in group HD, and six in group C.Results: Considering the extent of the skew in TCR variable region repertoires as a measure of clonal T cells, we found that the number of altered spectra showed a progressive increase from normal subjects to dialysis patients and to nonfunctioning kidney transplants, respectively. Healthy subjects had the lowest number of altered spectra, and patients with nonfunctioning kidney transplants the highest. Differences were significant for group HD-Tx vs group C (P=0.017) and group HD vs group C (P=0.015), but not between nonfunctioning kidney-transplant recipients and dialysis patients (group HD-Tx vs group HD).Conclusion: Although dialysis appears to be a weaker trigger for clonal expansion of T cells, our data suggest that the utilization of complementarity-determining region-3 spectratyping analysis of the TCR repertoire might be useful to monitor specific immunoactivation in patients before and after kidney transplantation. Keywords: dialysis, nonfunctioning k

Published
2017

34. The natural history of immunoglobulin M nephropathy in adults.

Author

Connor, Thomas M., Aiello, Valeria, Griffith, Megan, Cairns, Thomas, Roufosse, Candice A., Cook, H. Terence, and Pusey, Charles D.

Subjects
*IMMUNOGLOBULIN M, *KIDNEY diseases, *GLOMERULONEPHRITIS, *NEPHROTIC syndrome, *RENAL biopsy
Abstract

Background: Immunoglobulin M (IgM) nephropathy is an idiopathic glomerulonephritis characterized by diffuse mesangial deposition of IgM. IgM nephropathy has been a controversial diagnosis since it was first reported, and there are few data identifying specific pathological features that predict the risk of progression of renal disease. Methods: We identified 57 cases of IgM nephropathy among 3220 adults undergoing renal biopsy at our institution. Biopsies had to satisfy the following three criteria to meet the definition of IgMnephropathy in this study: (i) dominant mesangial staining for IgM, (ii) mesangial deposits on electron microscopy (EM) and (iii) exclusion of systemic disease. Results: The median age was 42 years and 24 patients were male. Thirty-nine per cent of patients presented with the nephrotic syndrome, 49% presented with non-nephrotic proteinuria and 39% had eGFR <60 mL/min. The median post-biopsy follow-up was 40 months and serum creatinine had doubled in 31% by 5 years. Of histological parameters, glomerular sclerosis and tubular atrophy, but not mesangial proliferation, were risk factors for renal insufficiency. Thirty-nine per cent of nephrotic patients achieved complete remission, and outcome was significantly worse in those who did not respond to treatment. Focal segmental glomerulosclerosis was diagnosed in 80% of those undergoing repeat renal biopsy, despite ongoing mesangial IgM deposition. Conclusions: We propose criteria for a consensus definition of IgMnephropathy. [ABSTRACT FROM AUTHOR]

Published
2017
Full Text
View/download PDF

35. Identification of expanded T-cell clones by spectratyping in nonfunctioning kidney transplants

Author

Olga Baraldi, Diletta Conte, Maria Cappuccilli, Gaetano La Manna, Giorgia Comai, Andrea Pession, Irene Capelli, Valeria Aiello, Gabriele Donati, Cappuccilli, Maria, Donati, Gabriele, Comai, Giorgia, Baraldi, Olga, Conte, Diletta, Capelli, Irene, Aiello, Valeria, Pession, Andrea, and La Manna, Gaetano

Subjects
medicine.medical_specialty, dialysi, medicine.medical_treatment, T cell, Immunology, 030232 urology & nephrology, 030230 surgery, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Immune system, Internal medicine, medicine, Immunology and Allergy, Receptor, TCR spectratyping, Dialysis, Kidney transplantation, Original Research, nonfunctioning kidney transplant, Kidney, business.industry, T-cell receptor, T-cell repertoire, dialysis, medicine.disease, medicine.anatomical_structure, Hemodialysis, business, Journal of Inflammation Research
Abstract

Maria Cappuccilli,1 Gabriele Donati,1 Giorgia Comai,1 Olga Baraldi,1 Diletta Conte,1 Irene Capelli,1 Valeria Aiello,1 Andrea Pession,2 Gaetano La Manna1 1Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis, and Renal Transplant Unit, 2Molecular Laboratory of Pediatrics, Hematology–Oncology Unit, St Orsola Hospital, University of Bologna, Bologna, Italy Background: The aim of this study was the application of complementarity-determining region-3 spectratyping analysis to determine T-cell-repertoire complexity and to detect T-cell-clone expansion, as a measure of immune response in nonfunctioning kidney transplants (group hemodialysis-transplant [HD-Tx]), nontransplanted dialysis patients (group hemodialysis [HD]), and normal subjects as controls (group C).Patients and methods: Analysis of T-cell receptor (TCR) diversity by spectratyping was applied to peripheral blood samples collected from 21 subjects: eight in group HD-Tx, seven in group HD, and six in group C.Results: Considering the extent of the skew in TCR variable region repertoires as a measure of clonal T cells, we found that the number of altered spectra showed a progressive increase from normal subjects to dialysis patients and to nonfunctioning kidney transplants, respectively. Healthy subjects had the lowest number of altered spectra, and patients with nonfunctioning kidney transplants the highest. Differences were significant for group HD-Tx vs group C (P=0.017) and group HD vs group C (P=0.015), but not between nonfunctioning kidney-transplant recipients and dialysis patients (group HD-Tx vs group HD).Conclusion: Although dialysis appears to be a weaker trigger for clonal expansion of T cells, our data suggest that the utilization of complementarity-determining region-3 spectratyping analysis of the TCR repertoire might be useful to monitor specific immunoactivation in patients before and after kidney transplantation. Keywords: dialysis, nonfunctioning kidney transplant, T-cell repertoire, TCR spectratyping&nbsp

Published
2017

36. An in vitro model of renal inflammation after ischemic oxidative stress injury: Nephroprotective effects of a hyaluronan ester with butyric acid on mesangial cells

Author

Viola Menghi, Giorgia Comai, Francesca Bianchi, Valeria Aiello, Anna Laura Croci Chiocchini, Gaetano La Manna, Andrea Angeletti, Maria Cappuccilli, Olga Baraldi, Baraldi, Olga, Bianchi, Francesca, Menghi, Viola, Angeletti, Andrea, Croci Chiocchini, Anna Laura, Cappuccilli, Maria, Aiello, Valeria, Comai, Giorgia, and La Manna, Gaetano

Subjects
0301 basic medicine, mesangial cells, Immunology, medicine.disease_cause, Extracellular matrix, 03 medical and health sciences, chemistry.chemical_compound, medicine, Immunology and Allergy, Propidium iodide, Protein kinase B, Original Research, Mesangial cell, Chemistry, Cell growth, apoptosis, Apoptosi, Cell cycle, Hyaluronan ester of butyric acid, Cell biology, Acute kidney injury, 030104 developmental biology, Biochemistry, Apoptosis, Journal of Inflammation Research, Oxidative stress
Abstract

Olga Baraldi,1 Francesca Bianchi,2,3 Viola Menghi,1 Andrea Angeletti,1 Anna Laura Croci Chiocchini,1 Maria Cappuccilli,1 Valeria Aiello,1 Giorgia Comai,1 Gaetano La Manna1 1Department of Experimental, Diagnostic and Specialty Medicine, Nephrology, Dialysis and Renal Transplant Unit, Sant’Orsola-Malpighi Hospital, University of Bologna, Bologna, 2Stem Wave Institute for Tissue Healing, Gruppo Villa Maria Care & Research – Ettore Sansavini Health Science Foundation, Lugo, Ravenna, 3National Institute of Biostructures and Biosystems at the Department of Experimental, Diagnostic and Specialty Medicine, Sant’Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy Background: Acute kidney injury, known as a major trigger for organ fibrosis and independent predictor of chronic kidney disease, is characterized by mesangial cell proliferation, inflammation and unbalance between biosynthesis and degradation of extracellular matrix. Therapeutic approaches targeting the inhibition of mesangial cell proliferation and matrix expansion may represent a promising opportunity for the treatment of kidney injury. An ester of hyaluronic acid and butyric acid (HB) has shown vasculogenic and regenerative properties in renal ischemic-damaged tissues, resulting in enhanced function recovery and minor degree of inflammation in vivo. This study evaluated the effect of HB treatment in mesangial cell cultures exposed to H2O2-induced oxidative stress.Materials and methods: Lactate dehydrogenase release and caspase-3 activation were measured using mesangial cells prepared from rat kidneys to assess necrosis and apoptosis. Akt and p38 phosphorylation was analyzed to identify the possible mechanism underlying cell response to HB treatment. The relative expressions of matrix metallopeptidase 9 (MPP-9) and collagen type 1 alpha genes were also analyzed by quantitative real-time polymerase chain reaction. Cell proliferation rate and viability were measured using thiazolyl blue assay and flow cytometry analysis of cell cycle with propidium iodide.Results: HB treatment promoted apoptosis of mesangial cells after H2O2-induced damage, decreased cellular proliferation and activated p38 pathway, increasing expression of its target gene MPP-9.Conclusion: This in vitro model shows that HB treatment seems to redirect mesangial cells toward apoptosis after oxidative damage and to reduce cell proliferation through p38 MAPK pathway activation and upregulation of MPP-9 gene expression involved in mesangial matrix remodeling. Keywords: acute kidney injury, apoptosis, hyaluronan ester of butyric acid, mesangial cells

Published
2017

37. DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.

Author

Aiello V, Ciurli F, Conti A, Cristalli CP, Lerario S, Montanari F, Sciascia N, Vischini G, Fabbrizio B, Di Costanzo R, Olivucci G, Pietra A, Lopez A, Zambianchi L, La Manna G, and Capelli I

Subjects
Humans, TRPP Cation Channels genetics, Mutation, Kidney, Fibrosis, HSP40 Heat-Shock Proteins genetics, Polycystic Kidney, Autosomal Dominant genetics, Polycystic Kidney, Autosomal Dominant diagnosis
Abstract

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a late-onset cilia-related disorder, characterized by progressive cystic enlargement of the kidneys. It is genetically heterogeneous with PKD1 and PKD2 pathogenic variants identified in approximately 78% and 15% of families, respectively. More recently, additional ADPKD genes, such as DNAJB11 , have been identified and included in the diagnostic routine test for renal cystic diseases. However, despite recent progress in ADPKD molecular approach, approximately ~7% of ADPKD-affected families remain genetically unresolved. We collected a cohort of 4 families from our center, harboring heterozygous variants in the DNAJB11 gene along with clinical and imaging findings consistent with previously reported features in DNAJB11 mutated patients. Mutations were identified as likely pathogenetic (LP) in three families and as variants of uncertain significance (VUS) in the remaining one. One patient underwent to kidney biopsy and showed a prevalence of interstitial fibrosis that could be observed in ~60% of the sample. The presence in the four families from our cohort of ADPKD characteristics together with ADTKD features, such as hyperuricemia, diabetes, and chronic interstitial fibrosis, supports the definition of DNAJB11 phenotype as an overlap disease between these two entities, as originally suggested by the literature.

Published
2023
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results