Suchergebnisse - "Assael, Baroukh Maurice"

Occurrence, outcomes and predictors of portal hypertension in cystic fibrosis: A longitudinal prospective birth cohort study von Cipolli, Marco, Fethney, Judith, Waters, Donna, Zanolla, Luisa, Meneghelli, Ilaria, Dutt, Shoma, Assael, Baroukh Maurice, Gaskin, Kevin John

“… •Portal hypertension (PH) prevalence of 8.8% in a cohort of 577 children with cystic fibrosis, followed from birth to 18.5 years of age.•Incident rates of …”
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Azithromycin selectively reduces tumor necrosis factor alpha levels in cystic fibrosis airway epithelial cells von Cigana, Cristina, Assael, Baroukh Maurice, Melotti, Paola

“… Azithromycin (AZM) ameliorates lung function in cystic fibrosis (CF) patients. This macrolide has been suggested to have anti-inflammatory properties as well …”
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Anti-inflammatory effects of azithromycin in cystic fibrosis airway epithelial cells von Cigana, Cristina, Nicolis, Elena, Pasetto, Matteo, Assael, Baroukh Maurice, Melotti, Paola

“… We aimed at identifying molecular mechanisms for anti-inflammatory effects of azithromycin (AZM) suggested by clinical evidences. IL-8 expression and DNA …”
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Defective CFTR Expression and Function Are Detectable in Blood Monocytes: Development of a New Blood Test for Cystic Fibrosis von Sorio, Claudio, Buffelli, Mario, Angiari, Chiara, Ettorre, Michele, Johansson, Jan, Vezzalini, Marzia, Viviani, Laura, Ricciardi, Mario, Verzè, Genny, Assael, Baroukh Maurice, Melotti, Paola

“… Evaluation of cystic fibrosis transmembrane conductance regulator (CFTR) functional activity to assess new therapies and define diagnosis of cystic fibrosis …”
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Impact of MIF Gene Promoter Polymorphism on F508del Cystic Fibrosis Patients von Melotti, Paola, Mafficini, Andrea, Lebecque, Patrick, Ortombina, Myriam, Leal, Teresinha, Pintani, Emily, Pepermans, Xavier, Sorio, Claudio, Assael, Baroukh Maurice

“… Macrophage migration Inhibitory Factor (MIF) is a pro-inflammatory cytokine sustaining the acute response to gram-negative bacteria and a regulatory role for …”
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Inconclusive Cystic Fibrosis neonatal screening results: long-term psychosocial effects on parents von Perobelli, Sandra, Zanolla, Luisa, Tamanini, Anna, Rizzotti, Paolo, Maurice Assael, Baroukh, Castellani, Carlo

“… Aim:  Cystic Fibrosis (CF) Newborn Screening occasionally identifies neonates where a CF diagnosis can neither be confirmed nor excluded. To assess how parents …”
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Further characterization of Shwachman-Diamond syndrome: Psychological functioning and quality of life in adult and young patients von Perobelli, Sandra, Nicolis, Elena, Assael, Baroukh Maurice, Cipolli, Marco

“… To assess psychosocial functioning and quality of life in a representative group of adult and young patients with Shwachman–Diamond syndrome (SDS), all …”
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An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests von Castellani, Carlo, Perobelli, Sandra, Bianchi, Vera, Seia, Manuela, Melotti, Paola, Zanolla, Luisa, Assael, Baroukh Maurice, Lalatta, Faustina

“… The demand for cystic fibrosis (CF) carrier testing is steadily growing, not only from individuals with raised a priori carrier risk, but also from the general …”
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Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening von Cipolli, Marco, Castellani, Carlo, Wilcken, Bridget, Massie, John, McKay, Karen, Gruca, Margie, Tamanini, Anna, Assael, Maurice Baroukh, Gaskin, Kevin

“… Objective:To determine the pancreatic phenotype of infants with cystic fibrosis (CF) diagnosed in the first week of life by a combined immunoreactive …”
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Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients von Gomez-Lira, Macarena, Bonamini, Deborah, Castellani, Carlo, Unis, Lorenza, Cavallini, Giorgio, Assael, Baroukh Maurice, Pignatti, Pier Franco

“… Idiopathic chronic and acute recurrent pancreatitis (IP) have been associated with mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR …”
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Association between carrier screening and incidence of cystic fibrosis von Castellani, Carlo, Picci, Luigi, Tamanini, Anna, Girardi, Paolo, Rizzotti, Paolo, Assael, Baroukh Maurice

“… A downward trend in cystic fibrosis (CF) birth incidence has been reported in some areas. To evaluate the association between carrier screening and CF birth …”
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New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes von Bezzerri, Valentino, Vella, Antonio, Calcaterra, Elisa, Finotti, Alessia, Gasparello, Jessica, Gambari, Roberto, Assael, Baroukh Maurice, Cipolli, Marco, Sorio, Claudio

“… Shwachman-Diamond syndrome (SDS) is an inherited disease caused by mutations of a gene encoding for SBDS protein. So far little is known about SBDS exact …”
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Aztreonam inhalation solution for suppressive treatment of chronic Pseudomonas aeruginosa lung infection in cystic fibrosis von Assael, Baroukh Maurice

“… An aerosol form of aztreonam lysinate has recently been developed as a treatment for cystic fibrosis patients suffering from chronic Pseudomonas aeruginosa …”
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Ataluren‐driven restoration of Shwachman‐Bodian‐Diamond syndrome protein function in Shwachman‐Diamond syndrome bone marrow cells von Bezzerri, Valentino, Bardelli, Donatella, Morini, Jacopo, Vella, Antonio, Cesaro, Simone, Sorio, Claudio, Biondi, Andrea, Danesino, Cesare, Farruggia, Piero, Assael, Baroukh Maurice, D'amico, Giovanna, Cipolli, Marco

“… Shwachman‐Diamond syndrome (SDS) is a rare inherited recessive disease mainly caused by mutations in the Shwachman‐Bodian‐Diamond syndrome (SBDS) gene, which …”
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Absence of a gender gap in survival. An analysis of the Italian registry for cystic fibrosis in the paediatric age von Viviani, Laura, Bossi, Anna, Assael, Baroukh Maurice

“… The existence of gender-related differences since childhood in survival of cystic fibrosis (CF) patients has been recently challenged. We evaluated the effect …”
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Nasal potential difference outcomes support diagnostic decisions in cystic fibrosis von Tridello, Gloria, Menin, Laura, Pintani, Emily, Bergamini, Gabriella, Assael, Baroukh Maurice, Melotti, Paola

“… When cystic fibrosis (CF) is suspected Nasal Potential Difference (NPD) measurements are proposed to support controversial diagnosis: we investigated …”
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Hyaluronic Acid Improves the Tolerability of Hypertonic Saline in the Chronic Treatment of Cystic Fibrosis Patients: A Multicenter, Randomized, Controlled Clinical Trial von Ros, Mirco, Casciaro, Rosaria, Lucca, Francesca, Troiani, Patrizia, Salonini, Elena, Favilli, Federica, Quattrucci, Serena, Sher, Daniel, Assael, Baroukh Maurice

“… Abstract Trial Design and Methods: Between December 2009 and July 2011, four cystic fibrosis (CF) centers in Italy participated in a randomized, double-blind, …”
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Ratiometric sweat secretion optical test in cystic fibrosis, carriers and healthy subjects von Bergamini, Gabriella, Tridello, Gloria, Calcaterra, Elisa, Ceri, Stefano, Tagliasacchi, Marco, Bianchi, Federico, Monti, Federico, Masciadri, Andrea, Laudanna, Eugenia, Peserico, Denise, Sorio, Elena, Esposito, Valeria, Leal, Teresinha, Assael, Baroukh Maurice, Sorio, Claudio, Melotti, Paola

“… We have simplified the published procedure (5) for measuring sweat rates in individual human sweat glands. Sweat secretion rates were obtained from sweat drops …”
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Detection of CFTR protein in human leukocytes by flow cytometry von Johansson, Jan, Vezzalini, Marzia, Verzè, Genny, Caldrer, Sara, Bolognin, Silvia, Buffelli, Mario, Bellisola, Giuseppe, Tridello, Gloria, Assael, Baroukh Maurice, Melotti, Paola, Sorio, Claudio

“… Leukocytes have previously been shown to express detectable levels of the protein cystic fibrosis transmembrane conductance regulator (CFTR). This study aims …”
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Electrophysiological evaluation of Cystic Fibrosis Conductance Transmembrane Regulator (CFTR) expression in human monocytes von Ettorre, Michele, Verzè, Genny, Caldrer, Sara, Johansson, Jan, Calcaterra, Elisa, Assael, Baroukh Maurice, Melotti, Paola, Sorio, Claudio, Buffelli, Mario

“… Cystic fibrosis is caused by mutations of CFTR gene, a protein kinase A-activated anion channel, and is associated to a persistent and excessive chronic lung …”
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