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2. Monoallelic Loss of Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype

Author

Salhi, Sofiane, primary, Doreille, Alice, additional, Dancer, Marine Serveaux, additional, Boueilh, Anna, additional, Filipozzi, Pierre, additional, El Karoui, Khalil, additional, Ponce, Fanny, additional, Lebre, Anne-Sophie, additional, Raymond, Laure, additional, and Mesnard, Laurent, additional

Published
2023
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3. Monoallelic Loss-of-Function IFT140Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype

Author

Salhi, Sofiane, Doreille, Alice, Dancer, Marine Serveaux, Boueilh, Anna, Filipozzi, Pierre, El Karoui, Khalil, Ponce, Fanny, Lebre, Anne-Sophie, Raymond, Laure, and Mesnard, Laurent

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. While biallelic variants affecting IFT140are responsible for Mainzer-Saldino syndrome (characterized by severe ciliopathy causing skeletal abnormalities, kidney disease, and cysts), monoallelic loss-of-function (LoF) variants have been recently reported as an important cause of ADPKD beyond PKD1/2genes. Herein, we report 6 non-family-related cases of monoallelic IFT140LoF variants, identified from 1,340 exomes sequenced for nephrological indications in our local database. Every patient presented with polycystic kidney disease. Furthermore, the mother of a boy diagnosed with Mainzer-Saldino syndrome with a biallelic variant affecting IFT140presented with several bilateral cysts, revealed after kidney imaging, and was found to carry a pathologic frameshift IFT140variation. As well as this particular Mainzer-Saldino case, our 6 additional patients confirm that heterozygous IFT140frameshift variants are responsible for the cystic phenotype and kidney failure. Interestingly, of the 6 patients, 2 also exhibited dilated cardiomyopathy, which was of unknown origin, as no genetic cause was found after exome sequencing analysis, suggesting a potential connection between IFT140and heart disease.

Published
2024
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7. Plasma cell–directed therapy for rituximab-refractory PLA2R+ membranous nephropathy.

Author

Salhi, Sofiane, Ribes, David, Fortenfant, Françoise, and Faguer, Stanislas

Subjects
*KIDNEY diseases, *RITUXIMAB, *BORTEZOMIB
Abstract

This article discusses the use of plasma cell-directed therapy as a potential treatment for patients with rituximab-refractory PLA2R+ membranous nephropathy (MN). The study focuses on the use of a combination of bortezomib and dexamethasone (BD) in five patients with persistent anti-PLA2R autoimmunity despite multiple infusions of rituximab. The results showed that four out of five patients achieved an immunological response, and progressive renal response was observed in all patients. The study suggests that further research is needed to evaluate the efficacy of BD in a randomized comparative study. [Extracted from the article]

Published
2023
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10. Long-Term Outcomes of Rituximab-Treated Adult Patients with Podocytopathies

Author

Gauckler, Philipp, Matyjek, Anna, Kapsia, Seleni, Marinaki, Smaragdi, Quintana, Luis F., Diaz, Montserrat M., King, Catherine, Griffin, Siân, Ramachandran, Raja, Odler, Balazs, Eller, Kathrin, Artan, Ayşe Serra, Mirioglu, Safak, Busch, Martin, Schaepe, Maxi, Turkmen, Kultigin, Cheung, Chee Kay, Pepper, Ruth J., Juarez, Gema Fernandez, Pascual, Julio, Auñón, Pilar, García-Carro, Clara, Rodriguez, Antolina, Alberici, Federico, Luzardo, Leonella, Chebotareva, Natalia, Schönermarck, Ulf, Fernández, Loreto, Radhakrishnan, Jai, Guaman, Karina, Peleg, Yonatan, Hoisnard, Léa, Audard, Vincent, Papasotiriou, Marios, Krnanska, Nina, Tesar, Vladimir, Hruskova, Zdenka, Bruchfeld, Annette, Stangou, Maria, Lioulios, Georgios, Faguer, Stanislas, Ribes, David, Salhi, Sofiane, Windpessl, Martin, Galešić, Krešimir, Crnogorac, Matija, Zagorec, Nikola, Mayer, Gert, and Kronbichler, Andreas

Published
2024
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11. Complement C5 inhibition reverses bleomycin-induced thrombotic microangiopathy.

Author

Salhi, Sofiane, Ribes, David, and Faguer, Stanislas

Subjects
*PULMONARY fibrosis, *COMPLEMENT inhibition, *THROMBOTIC microangiopathies, *ADULT respiratory distress syndrome, *BLEOMYCIN, *RESPIRATORY insufficiency
Abstract

Whether C5 blocking may improve the outcomes of patients developing chemotherapy-induced thrombotic microangiopathy (TMA) remains elusive. Lung fibrosis is a well-known complication of bleomycin, whereas TMAs are very rare (<20 cases described). Here, we report an exceptional case of a male patient that developed acute respiratory distress syndrome and TMA following administration of bleomycin, cisplatin and etoposide. Refractoriness to plasma exchanges prompted us to use eculizumab as salvage therapy. Eculizumab led to complete remission of the TMA before Day 2. However, the patient progressed towards refractory respiratory failure, suggesting that pathophysiological mechanisms of bleomycin-induced lung fibrosis and TMA differ. [ABSTRACT FROM AUTHOR]

Published
2021
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