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1. Bone mineral density assessment in patients with cystinuria

Author

D’Ambrosio, Viola, Capolongo, Giovanna, Caletti, Chiara, Vietri, Maria Teresa, Ambrogio, Martina, Lombardi, Gianmarco, Perna, Alessandra F., Orefice, Giuseppe, Gremese, Elisa, Varriano, Valentina, Gatti, Davide, Fassio, Angelo, Capasso, Giovambattista, Gambaro, Giovanni, and Ferraro, Pietro Manuel

Published
2024
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4. Legislative proposal in Italy to facilitate contacts between deceased organ donor families and transplant recipients

Author

De Santo, Natale Gaspare, Cirillo, Massimo, De Santo, Luca S., Abbas, Mohamed Hamed, De Rosa, Giusy, Resic, Halima, Perna, Alessandra F., Spasovski, Goce, Citterio, Franco, Venditti, Guglielmo, Balat, Ayse, Santini, Luigi, Masullo, Aldo, Casavola, Francesco Paolo, Zecchino, Ortensio, Di Iorio, Biagio, and Capasso, Giovambattista

Published
2020
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5. Gases as Uremic Toxins: Is There Something in the Air?

Author

Jankowski, Joachim, Westhof, Timm, Vaziri, Nosratola D, Ingrosso, Diego, and Perna, Alessandra F

Subjects
Animals, Breath Tests, Carbon Monoxide, Feces, Gases, Gastrointestinal Tract, Humans, Nitric Oxide, Renal Dialysis, Toxins, Biological, Uremia, Volatile Organic Compounds, Volatile organic compounds, ammonia, nitric oxide, carbon monoxide, hydrogen sulfide, Clinical Sciences, Urology & Nephrology
Abstract

The field of uremic toxicity comprises the study of a large number of different substances, classified in relation to various characteristics, for example, protein-binding, dimensions, and so forth. The endogenous compounds of a gaseous nature have received much attention lately from the scientific community because of their increasingly recognized importance in health and disease. Among these substances, some are uremic toxins per se, others are related to uremic toxins, or can become toxic under some circumstances. We divided them into two broad categories: organic and inorganic compounds. Among the organic compounds are phenols, indols, 2-methoxyresorcinol, p-hydroxy hippuric acid and phenyl acetic acid, trimethylamine, and dimethylamine; among the inorganic solutes are ammonia, nitric oxide, carbon monoxide, and hydrogen sulfide. In this article, these substances are described in relation to the elements that they affect or by which they are affected in uremia, which are the blood, breath, stools, and the gastrointestinal tract. In addition, the effect of the dialysis procedure on exhaled gases are described.

Published
2014

6. The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI

Author

Trepiccione, Francesco, primary, Iervolino, Anna, additional, D’Acierno, Mariavittoria, additional, Siccardi, Sabrina, additional, Costanzo, Vincenzo, additional, Sardella, Donato, additional, De La Motte, Luigi R., additional, D’Apolito, Luciano, additional, Miele, Antonio, additional, Perna, Alessandra F., additional, Capolongo, Giovanna, additional, Zacchia, Miriam, additional, Frische, Sebastian, additional, Nielsen, Rikke, additional, Staiano, Leopoldo, additional, Sambri, Irene, additional, De Cegli, Rossella, additional, Unwin, Robert, additional, Eladari, Dominique, additional, and Capasso, Giovambattista, additional

Published
2023
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11. Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.

Author

Izhar, Raafiah, Borriello, Margherita, La Russa, Antonella, Di Paola, Rossella, De, Ananya, Capasso, Giovambattista, Ingrosso, Diego, Perna, Alessandra F., and Simeoni, Mariadelina

Subjects
ANGIOKERATOMA corporis diffusum, SYMPTOMS, MEDICAL personnel, X chromosome, ENZYME replacement therapy, HEART
Abstract

Fabry Disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene on the X chromosome, leading to a deficiency in α-galactosidase A (AGAL) enzyme activity. This leads to the accumulation of glycosphingolipids, primarily globotriaosylceramide (Gb3), in vital organs such as the kidneys, heart, and nervous system. While FD was initially considered predominantly affecting males, recent studies have uncovered that heterozygous Fabry women, carrying a single mutated GLA gene, can manifest a wide array of clinical symptoms, challenging the notion of asymptomatic carriers. The mechanisms underlying the diverse clinical manifestations in females remain not fully understood due to X-chromosome inactivation (XCI). XCI also known as "lyonization", involves the random inactivation of one of the two X chromosomes. This process is considered a potential factor influencing phenotypic variation. This review delves into the complex landscape of FD in women, discussing its genetic basis, the available biomarkers, clinical manifestations, and the potential impact of XCI on disease severity. Additionally, it highlights the challenges faced by heterozygous Fabry women, both in terms of their disease burden and interactions with healthcare professionals. Current treatment options, including enzyme replacement therapy, are discussed, along with the need for healthcare providers to be well-informed about FD in women, ultimately contributing to improved patient care and quality of life. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Lanthionine and Other Relevant Sulfur Amino Acid Metabolites: Detection of Prospective Uremic Toxins in Serum by Multiple Reaction Monitoring Tandem Mass Spectrometry

Author

Perna, Alessandra F., primary, Pane, Francesca, additional, Sepe, Nunzio, additional, Fontanarosa, Carolina, additional, Pinto, Gabriella, additional, Zacchia, Miriam, additional, Trepiccione, Francesco, additional, Anishchenko, Evgeniya, additional, Ingrosso, Diego, additional, Pucci, Piero, additional, and Amoresano, Angela, additional

Published
2019
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13. Possible Effects of Uremic Toxins p-Cresol, Indoxyl Sulfate, p-Cresyl Sulfate on the Development and Progression of Colon Cancer in Patients with Chronic Renal Failure

Author

Di Paola, Rossella, De, Ananya, Izhar, Raafiah, Abate, Marianna, Zappavigna, Silvia, Capasso, Anna, Perna, Alessandra F, La Russa, Antonella, Capasso, Giovambattista, Caraglia, Michele, Simeoni, Mariadelina, Di Paola, Rossella, De, Ananya, Izhar, Raafiah, Abate, Marianna, Zappavigna, Silvia, Capasso, Anna, Perna, Alessandra F, La Russa, Antonella, Capasso, Giovambattista, Caraglia, Michele, and Simeoni, Mariadelina

Subjects
colon cancer, p-cresol, chronic renal failure, dysbiosi, p-cresyl sulfate, uremic toxins, indoxyl sulfate
Abstract

Chronic kidney disease (CKD) induces several systemic effects, including the accumulation and production of uremic toxins responsible for the activation of various harmful processes. Gut dysbiosis has been widely described in CKD patients, even in the early stages of the disease. The abundant discharge of urea and other waste substances into the gut favors the selection of an altered intestinal microbiota in CKD patients. The prevalence of bacteria with fermentative activity leads to the release and accumulation in the gut and in the blood of several substances, such as p-Cresol (p-C), Indoxyl Sulfate (IS) and p-Cresyl Sulfate (p-CS). Since these metabolites are normally eliminated in the urine, they tend to accumulate in the blood of CKD patients proportionally to renal impairment. P-CS, IS and p-C play a fundamental role in the activation of various pro-tumorigenic processes, such as chronic systemic inflammation, the increase in the production of free radicals and immune dysfunction. An up to two-fold increase in the incidence of colon cancer development in CKD has been reported in several studies, although the pathogenic mechanisms explaining this compelling association have not yet been described. Based on our literature review, it appears likely the hypothesis of a role of p-C, IS and p-CS in colon cancer development and progression in CKD patients.

Published
2023

16. Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies

Author

Zacchia, Miriam, primary, Capolongo, Giovanna, additional, Del Vecchio Blanco, Francesca, additional, Secondulfo, Floriana, additional, Gupta, Neha, additional, Blasio, Giancarlo, additional, Pollastro, Rosa Maria, additional, Cervesato, Angela, additional, Piluso, Giulio, additional, Gigliotti, Giuseppe, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Perna, Alessandra F., additional, Capasso, Giovambattista, additional, and Trepiccione, Francesco, additional

Published
2023
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18. Lab on a Chip Device for Diagnostic Evaluation and Management in Chronic Renal Disease: A Change Promoting Approach in the Patients’ Follow Up

Author

Borriello, Margherita, primary, Tarabella, Giuseppe, additional, D’Angelo, Pasquale, additional, Liboà, Aris, additional, Barra, Mario, additional, Vurro, Davide, additional, Lombari, Patrizia, additional, Coppola, Annapaola, additional, Mazzella, Elvira, additional, Perna, Alessandra F., additional, and Ingrosso, Diego, additional

Published
2023
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21. Therapeutic Plasmapheresis: a revision of literature.

Author

Altobelli, Claudia, primary, Anastasio, Pietro, additional, Cerrone, Alessandro, additional, Signoriello, Elisabetta, additional, Lus, Giacomo, additional, Pluvio, Corrado, additional, Perna, Alessandra F, additional, Capasso, Giovambattista, additional, Simeoni, Mariadelina, additional, and Capolongo, Giovanna, additional

Published
2022
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22. Dapagliflozin Prevents Kidney Glycogen Accumulation and Improves Renal Proximal Tubule Cell Functions in a Mouse Model of Glycogen Storage Disease Type 1b

Author

D’Acierno, Mariavittoria, primary, Resaz, Roberta, additional, Iervolino, Anna, additional, Nielsen, Rikke, additional, Sardella, Donato, additional, Siccardi, Sabrina, additional, Costanzo, Vincenzo, additional, D’Apolito, Luciano, additional, Suzumoto, Yoko, additional, Segalerba, Daniela, additional, Astigiano, Simonetta, additional, Perna, Alessandra F., additional, Capasso, Giovambattista, additional, Eva, Alessandra, additional, and Trepiccione, Francesco, additional

Published
2022
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23. miRNA-23a modulates sodium-hydrogen exchanger 1 expression: studies in medullary thick ascending limb of salt-induced hypertensive rats

Author

Lombari, Patrizia, primary, Mallardo, Massimo, additional, Petrazzuolo, Oriana, additional, Amruthraj Nagoth, Joseph, additional, Fiume, Giuseppe, additional, Scanni, Roberto, additional, Iervolino, Anna, additional, Damiano, Sara, additional, Coppola, Annapaola, additional, Borriello, Margherita, additional, Ingrosso, Diego, additional, Perna, Alessandra F, additional, Zacchia, Miriam, additional, Trepiccione, Francesco, additional, and Capasso, Giovambattista, additional

Published
2022
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24. miRNA-23a modulates sodium-hydrogen exchanger 1 expression: studies in medullary thick ascending limb of salt-induced hypertensive rats.

Author

Lombari, Patrizia, Mallardo, Massimo, Petrazzuolo, Oriana, Nagoth, Joseph Amruthraj, Fiume, Giuseppe, Scanni, Roberto, Iervolino, Anna, Damiano, Sara, Coppola, Annapaola, Borriello, Margherita, Ingrosso, Diego, Perna, Alessandra F, Zacchia, Miriam, Trepiccione, Francesco, and Capasso, Giovambattista

Subjects
GENE expression, REGULATION of blood pressure, GENETIC vectors, ESSENTIAL hypertension, HYPERTENSION
Abstract

Background The kidney is the main organ in the pathophysiology of essential hypertension. Although most bicarbonate reabsorption occurs in the proximal tubule, the medullary thick ascending limb (mTAL) of the nephron also maintains acid–base balance by contributing to 25% of bicarbonate reabsorption. A crucial element in this regulation is the sodium-hydrogen exchanger 1 (NHE1), a ubiquitous membrane protein controlling intracellular pH, where proton extrusion is driven by the inward sodium flux. MicroRNA (miRNA) expression of hypertensive patients significantly differs from that of normotensive subjects. The aim of this study was to determine the functional role of miRNA alterations at the mTAL level. Methods By miRNA microarray analysis, we identified miRNA expression profiles in isolated mTALs from high sodium intake–induced hypertensive rats (HSD) versus their normotensive counterparts (NSD). In vitro validation was carried out in rat mTAL cells. Results Five miRNAs involved in the onset of salt-sensitive hypertension were identified, including miR-23a, which was bioinformatically predicted to target NHE1 mRNA. Data demonstrated that miRNA-23a is downregulated in the mTAL of HSD rats while NHE1 is upregulated. Consistently, transfection of an miRNA-23a mimic in an mTAL cell line, using a viral vector, resulted in NHE1 downregulation. Conclusion NHE1, a protein involved in sodium reabsorption at the mTAL level and blood pressure regulation, is upregulated in our model. This was due to a downregulation of miRNA-23a. Expression levels of this miRNA are influenced by high sodium intake in the mTALs of rats. The downregulation of miRNA-23a in humans affected by essential hypertension corroborate our data and point to the potential role of miRNA-23a in the regulation of mTAL function following high salt intake. [ABSTRACT FROM AUTHOR]

Published
2023
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25. Therapy of Hyperhomocysteinemia in Hemodialysis Patients: Effects of Folates and N-Acetylcysteine

Author

Perna, Alessandra F., Violetti, Eleonora, Lanza, Diana, Sepe, Immacolata, Bellinghieri, Guido, Savica, Vincenzo, Santoro, Domenico, Satta, Ersilia, Cirillo, Giovanni, Lupo, Antonio, Abaterusso, Cataldo, Raiola, Ilaria, Raiola, Paolino, Coppola, Salvatore, Di Iorio, Biagio, Tirino, Giuseppina, Cirillo, Massimo, Ingrosso, Diego, and De Santo, Natale G.

Published
2012
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27. A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations

Author

Suzumoto, Yoko, Columbano, Valeria, Gervasi, Luciano, Giunta, Rosa, Mattina, Teresa, Trimarchi, Gabriele, Capolongo, Giovanna, Simeoni, Mariadelina, Perna, Alessandra F, Zacchia, Miriam, Toriello, Gianpiero, Pollastro, Rosa M, Rapisarda, Francesco, Capasso, Giovambattista, Trepiccione, Francesco, Suzumoto, Yoko, Columbano, Valeria, Gervasi, Luciano, Giunta, Rosa, Mattina, Teresa, Trimarchi, Gabriele, Capolongo, Giovanna, Simeoni, Mariadelina, Perna, Alessandra F, Zacchia, Miriam, Toriello, Gianpiero, Pollastro, Rosa M, Rapisarda, Francesco, Capasso, Giovambattista, and Trepiccione, Francesco

Subjects
Kir4.1, tubulopathy, Brief Report, potassium channel
Abstract

EAST/SeSAME syndrome is a rare disease affecting the Central Nervous System (CNS), inner ear, and kidney. The syndrome is due to loss-of-function mutations in the KCNJ10 gene encoding the inward-rectifying potassium channel Kir4.1. EAST/SeSAME syndrome is mainly diagnosed during childhood with a tonic-clonic seizure being the usual first symptom. Due to a limited number of patients and recent identification of the disease, few data are available on the clinical progress of this disease in adulthood. In particular, neurologic and nephrological outcomes have not been reported. We present a case series of 4 adult patients harbouring homozygous missense mutation p.Ala167Val and homozygous frameshift mutations p.Asn232Glnfs*14 and p.Gly275Valfs*7. Effects of these mutations were predicted by in silico modelling and bioinformatic tools. Patients with truncating mutations were associated with more severe outcomes, both in tubulopathy severity and neurological symptomatology. Conversely, either missense or truncating mutations were correlated with similar severity of epilepsy, with a long free-of-event period up to 20 years old. No eGFR decline was documented. Modelling predicted that truncating mutations lead to complete Kir4.1 dysfunction. Finally, all patients had a mild increase in urinary protein excretion. Our study indicates that the prognosis of patients suffering from EAST/SeSAME syndrome is related to the severity of the mutation causing the disease. As predicted by in silico modelling, truncating mutations of KCNJ10 are associated with more severe disease, with recurrence of symptomatic hypokalemia and more severe neurological phenotype. The type of mutation should be considered for the therapy tailored to patients' phenotype.

Published
2021

30. Therapeutic Plasmapheresis: A Revision of Literature.

Author

Altobelli, Claudia, Anastasio, Pietro, Cerrone, Alessandro, Signoriello, Elisabetta, Lus, Giacomo, Pluvio, Corrado, Perna, Alessandra F., Capasso, Giovambattista, Simeoni, Mariadelina, and Capolongo, Giovanna

Subjects
PLASMAPHERESIS, MEDICAL specialties & specialists, LITERATURE reviews, IMMUNOADSORPTION, PATHOLOGICAL laboratories
Abstract

Background: Therapeutic plasmapheresis (TP) is an extracorporeal therapy that allows the removal of pathogens from plasma. The role of TP in immuno-mediated diseases and toxic conditions has been of interest for decades. Summary: We reviewed the recent literature on the application and the optimal choice of TP technique ranging from plasma exchange, double filtration plasmapheresis, rheopheresis, immunoadsorptions, plasma adsorption perfusion and lipidoapheresis. In addition, we report our experience in the application of TP for various diseases ranging in different medical specialties, following the American Society for Apheresis (ASFA) recommendations. Key Messages: Overall patients receiving TP showed an improvement in clinical and laboratory parameters. Our review and single-center experience suggest a benefit of the application of TP in multiple clinical disciplines. [ABSTRACT FROM AUTHOR]

Published
2023
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33. Homocysteine Solution-Induced Response in Aerosol Jet Printed OECTs by Means of Gold and Platinum Gate Electrodes

Author

D’Angelo, Pasquale, primary, Barra, Mario, additional, Lombari, Patrizia, additional, Coppola, Annapaola, additional, Vurro, Davide, additional, Tarabella, Giuseppe, additional, Marasso, Simone Luigi, additional, Borriello, Margherita, additional, Chianese, Federico, additional, Perna, Alessandra F., additional, Cassinese, Antonio, additional, and Ingrosso, Diego, additional

Published
2021
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35. A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations

Author

Suzumoto, Yoko, primary, Columbano, Valeria, additional, Gervasi, Luciano, additional, Giunta, Rosa, additional, Mattina, Teresa, additional, Trimarchi, Gabriele, additional, Capolongo, Giovanna, additional, Simeoni, Mariadelina, additional, Perna, Alessandra F., additional, Zacchia, Miriam, additional, Toriello, Gianpiero, additional, Pollastro, Rosa M., additional, Rapisarda, Francesco, additional, Capasso, Giovambattista, additional, and Trepiccione, Francesco, additional

Published
2021
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45. The Role of EUTox in Uremic Toxin Research

Author

Vanholder, Raymond, Abou-Deif, Omar, Argiles, Angel, Baurmeister, Ulrich, Beige, Joachim, Brouckaert, Peter, Brunet, Philippe, Cohen, Gerald, De Deyn, Peter Paul, Drüeke, Tilman B., Fliser, Danilo, Glorieux, Griet, Herget-Rosenthal, Stefan, Hörl, Walter H, Jankowski, Joachim, Jörres, Achim, Massy, Ziad A., Mischak, Harald, Perna, Alessandra F., Rodriguez-Portillo, Juan Mariano, Spasovski, Goce, Stegmayr, Bernd G., Stenvinkel, Peter, Thornalley, Paul J., Wanner, Christoph, and Wiecek, Andrzej

Published
2009
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48. Plasma protein homocysteinylation in uremia

Author

Perna, Alessandra F., Acanfora, Filomena, Luciano, Maria Grazia, Pulzella, Paola, Capasso, Rosanna, Satta, Ersilia, Cinzia, Lombardi, Pollastro, Rosa Maria, Iannelli, Simona, Ingrosso, Diego, and De Santo, Natale G.

Published
2007
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