Search Results - "Singer, Sylvia Titi"

Risk of mortality from anemia and iron overload in nontransfusion‐dependent β‐thalassemia by Musallam, Khaled M., Vitrano, Angela, Meloni, Antonella, Pollina, Sebastiano Addario, Karimi, Mehran, El‐Beshlawy, Amal, Hajipour, Mahmoud, Di Marco, Vito, Ansari, Saqib Hussain, Filosa, Aldo, Ricchi, Paolo, Ceci, Adriana, Daar, Shahina, Vlachaki, Efthymia, Singer, Sylvia Titi, Naserullah, Zaki A., Pepe, Alessia, Scondotto, Salvatore, Dardanoni, Gabriella, Bonifazi, Fedele, Sankaran, Vijay G., Vichinsky, Elliott, Taher, Ali T., Maggio, Aurelio

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Survival and causes of death in 2,033 patients with non-transfusion-dependent β-thalassemia by Musallam, Khaled M., Vitrano, Angela, Meloni, Antonella, Pollina, Walter Addario, Karimi, Mehran, El-Beshlawy, Amal, Hajipour, Mahmoud, Di Marco, Vito, Ansari, Saqib Hussain, Filosa, Aldo, Ricchi, Paolo, Ceci, Adriana, Daar, Shahina, Vlachaki, Efthymia, Singer, Sylvia Titi, Naserullah, Zaki A., Pepe, Alessia, Scondotto, Salvatore, Dardanoni, Gabriella, Bonifazi, Fedele, Sankaran, Vijay G., Vichinsky, Elliott, Taher, Ali T., Maggio, Aurelio

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A complication risk score to evaluate clinical severity of thalassaemia syndromes by Vitrano, Angela, Meloni, Antonella, Addario Pollina, Walter, Karimi, Mehran, El‐Beshlawy, Amal, Hajipour, Mahmoud, Di Marco, Vito, Hussain Ansari, Saqib, Filosa, Aldo, Ricchi, Paolo, Ceci, Adriana, Daar, Shahina, Titi Singer, Sylvia, Naserullah, Zaki A., Pepe, Alessia, Scondotto, Salvatore, Dardanoni, Gabriella, Bonifazi, Fedele, Vichinsky, Elliott, Maggio, Aurelio

“…Summary The thalassaemia syndromes (TS) show different phenotype severity. Developing a reliable, practical and global tool to determine disease severity and…”
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Variable clinical phenotypes of alpha-thalassemia syndromes by Singer, Sylvia Titi

“…Genetic mutations of the alpha genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of…”
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Random Forest Clustering Identifies Three Subgroups of β-Thalassemia with Distinct Clinical Severity by Vitrano, Angela, Musallam, Khaled M., Meloni, Antonella, Addario Pollina, Sebastiano, Karimi, Mehran, El-Beshlawy, Amal, Hajipour, Mahmoud, Di Marco, Vito, Ansari, Saqib Hussain, Filosa, Aldo, Ricchi, Paolo, Ceci, Adriana, Daar, Shahina, Vlachaki, Efthymia, Singer, Sylvia Titi, Naserullah, Zaki A., Pepe, Alessia, Scondotto, Salvatore, Dardanoni, Gabriella, Bonifazi, Fedele, Sankaran, Vijay G., Vichinsky, Elliott, Taher, Ali T., Maggio, Aurelio

“…In this work, we aimed to establish subgroups of clinical severity in a global cohort of β-thalassemia through unsupervised random forest (RF) clustering. We…”
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Hemoglobin H‐constant spring in North America: An alpha thalassemia with frequent complications by Singer, Sylvia Titi, Kim, Hae‐Young, Olivieri, Nancy F., Kwiatkowski, Janet L., Coates, Thomas D., Carson, Susan, Neufeld, Ellis, Cunningham, Melody J., Giardina, Patricia J., Mueller, Brigitta U., Quinn, Charles T., Fung, Ellen, Vichinsky, Elliott

“…Hemoglobin H-constant spring (Hb H-CS), the most common nondeletional alpha thalassemia in Asia is increasingly recognized in North America due to shifts in…”
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Hemoglobin Balkh, a Novel Mutation in Codon 132 of α2-Globin Gene α132(H15) (+T) or HBA2:C.396dup (p.Val134fs): A Case Report and Insight into the Pathophysiology by Tavassoli, Shabnam, Chung, Jong H, Panigrahi, Arun R, Shahsavar, Azadeh, Lal, Ashutosh, Singer, Sylvia Titi

“…We report a novel mutation on α2-globin gene leading to an elongated α-chain. This novel frameshift mutation was detected in a 13-year-old boy from Balkh…”
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Initial Results in a Phase 1b Trial of PB-04 in Sickle Cell Disease Demonstrate Fetal Hemoglobin Induction, Additive Activity with Hydroxyurea, and Improved Red Blood Cell Sickling Parameters by Kuo, Kevin H.M., Singer, Sylvia Titi, Blyden, Gershwin Theophilus, Bronté-Hall, Lanetta, Faller, Aidan, Kutlar, Abdullah, Kuypers, Frans A., Zaidi, Aliya U., Hines, Patrick C., Patel, Niren, Larkin, Sandra, Al-Samkari, Hanny, Sheth, Sujit, Nouraie, Seyed Mehdi, Perrine, Susan

“…Extensive evidence has shown fetal hemoglobin (HbF) is a major modulator of sickle cell disease (SCD) phenotype. Clinical benefit with any increment of HbF was…”
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Hemoglobin Balkh, a Novel Mutation in Codon 132 of α2-Globin Gene [α132(H15) (+T) or HBA2 :C.396dup (p.Val134fs)]: A Case Report and Insight into the Pathophysiology by Tavassoli, Shabnam, Chung, Jong H, Panigrahi, Arun R, Shahsavar, Azadeh, Lal, Ashutosh, Singer, Sylvia Titi

“…We report a novel mutation on α2-globin gene leading to an elongated α-chain. This novel frameshift mutation was detected in a 13-year-old boy from Balkh…”
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Pituitary Iron: Effect on Pituitary Volume and Function in Transfusion Dependent Thalassemia by Singer, Sylvia Titi Titi, Fischer, Roland, Yuan, Qing, Lal, Ashutosh, Allen, Isabel E, Vichinsky, Elliott, Wang, Zhiyue J

“…The association of iron toxicity with vital organ dysfunction has been extensively investigated in transfusion-dependent-thalassemia (TDT). However, pituitary…”
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Development of a Thalassemia International Prognostic Scoring System (TIPSS) by Vitrano, Angela, Musallam, Khaled M., Meloni, Antonella, Karimi, Mehran, Daar, Shahina, Ricchi, Paolo, Costantini, Silvia, Vlachaki, Efthymia, Di Marco, Vito, El-Beshlawy, Amal, Hajipour, Mahmoud, Ansari, Saqib Hussain, Filosa, Aldo, Ceci, Adriana, Singer, Sylvia Titi, Naserullah, Zaki A., Pepe, Alessia, Cademartiri, Filippo, Pollina, Sebastiano Addario, Scondotto, Salvatore, Dardanoni, Gabriella, Bonifazi, Fedele, Sankaran, Vijay G., Vichinsky, Elliott, Taher, Ali T., Maggio, Aurelio

“…A prognostic scoring system that can differentiate β-thalassemia patients based on mortality risk is lacking. We analysed data from 3145 β-thalassemia patients…”
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Three Distinct Groups of Phenotype Severity in Beta-Thalassemia by Maggio, Aurelio, Vitrano, Angela, Meloni, Antonella, Addario Pollina, Walter, Karimi, Mehran, El-Beshlawy, Amal, Hajipour, Mahmoud, Di Marco, Vito, Ansari, Saqib Hussain, Filosa, Aldo, Ricchi, Paolo, Ceci, Adriana, Daar, Shahina, Singer, Sylvia Titi, Borgio, J F, Pepe, Alessia, Scondotto, Salvatore, Dardanoni, Gabriella, Sacco, Massimiliano, Pistoia, Laura, Barone, Rita, Bonifazi, Fedele, Pitrolo, Lorella, Vichinsky, Elliott P.

“…Background Thalassemia Syndromes (TS) are commonly classified as transfusion-dependent-thalassemia (TDT) or non-transfusion-dependent thalassemia (NTDT) at…”
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Development of a Severity Score System for Thalassemia Syndromes by Vitrano, Angela, Meloni, Antonella, Addario Pollina, Walter, Karimi, Mehran, El-Beshlawy, Amal, Hajipour, Mahmoud, Di Marco, Vito, Ansari, Saqib Hussain, Filosa, Aldo, Ricchi, Paolo, Ceci, Adriana, Daar, Shahina, Singer, Sylvia Titi Titi, Borgio, J F, Pepe, Alessia, Scondotto, Salvatore, Dardanoni, Gabriella, Di Maggio, Rosario, Sacco, Massimiliano, Vichinsky, Elliott P., Maggio, Aurelio

“…Introduction Thalassemia Syndromes (TS) are a group of inherited haemoglobin disorders characterized by different phenotype severity falling among heterozygote…”
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Abnormal Reproductive Measures and Seminal Plasma Findings in Men With Thalassemia Major (TM) and Iron Overload by Titi Singer, Sylvia, Wang, Jerry, Suh, Jung H, Killelea, David, Ivani, Kristen, Oliveros, Olivia, Yuan, Qing, Vichinsky, Elliott, Smith, James

“…Continuous improvement in the life span of TM patients allows patients to address critical issues of specific organ function. Among these…”
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Survival and causes of death in 2033 patients with non-transfusion-dependent β-thalassemia by Musallam, Khaled M, Vitrano, Angela, Meloni, Antonella, Pollina, Walter Addario, Karimi, Mehran, El-Beshlawy, Amal, Hajipour, Mahmoud, Di Marco, Vito, Ansari, Saqib Hussain, Filosa, Aldo, Ricchi, Paolo, Ceci, Adriana, Daar, Shahina, Vlachaki, Efthymia, Singer, Sylvia Titi, Naserullah, Zaki A, Pepe, Alessia, Scondotto, Salvatore, Dardanoni, Gabriella, Bonifazi, Fedele, Sankaran, Vijay G, Vichinsky, Elliott, Taher, Ali T, Maggio, Aurelio

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Longitudinal Follow-up From Newborn Screening Reveals Deletional Hemoglobin H Disease and Hemoglobin H Constant Spring Disease Are Distinct Thalassemia Syndromes by Lal, Ashutosh, Goldrich, Michael Lee, Foote, Drucilla, Azimi, Mahin, Singer, Sylvia Titi, Vichinsky, Elliott

“…Abstract 4260 Alpha thalassemia disorders are rapidly increasing in North America. This has resulted in proposals for universal newborn screening (NBS) for…”
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Cardiopulmonary and Laboratory Profiling of Patients with Thalassemia At Risk for Pulmonary Hypertension: Report From the Thalassemia Clinical Research Network by Morris, Claudia R., Kim, Hae-Young, Wood, John C, Trachtenberg, Felicia, Klings, Elizabeth S, Porter, John B., Sweeters, Nancy, Olivieri, Nancy F, Kwiatkowski, Janet L., Singer, Sylvia Titi, Taher, Ali T, Neufeld, Ellis J., Thompson, Alexis A., Larkin, Sandra K, Suh, Jung H, Vichinsky, Elliott, Kuypers, Frans A

“…Abstract 2122 Pulmonary hypertension (PH) commonly develops in thalassemia syndromes, but is poorly characterized. Since limited data are available we set out…”
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Sildenafil Therapy in Patients with Thalassemia and an Elevated Tricuspid Regurgitant Jet Velocity (TRV) On Doppler Echocardiography At Risk for Pulmonary Hypertension: Report From the Thalassemia Clinical Research Network by Morris, Claudia R., Kim, Hae-Young, Wood, John C, Trachtenberg, Felicia, Klings, Elizabeth S, Porter, John B., Sweeters, Nancy, Olivieri, Nancy F, Kwiatkowski, Janet L., Singer, Sylvia Titi, Taher, Ali T, Neufeld, Ellis J., Thompson, Alexis A., Sachdev, Vandana, Larkin, Sandra K, Suh, Jung H, Kuypers, Frans A, Vichinsky, Elliott

“…Abstract 1023 Pulmonary hypertension (PH) is a complication associated with thalassemia syndromes, particularly thalassemia intermedia. There are limited data…”
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Pulmonary Hypertension in Thalassemia: Association with Platelet Activation and Hypercoagulable State by Singer, Sylvia Titi, Rosenfeld, Howard, Vichinsky, Elliott

“…Pulmonary hypertension (PHT) is a serious, under diagnosed, potentially fatal complication, reported mostly in non-transfused adult thalassemia intermedia (TI)…”
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Thalassemia: current approach to an old disease by Lo, Louise, Singer, Sylvia Titi

“…This article discusses the approach for recognition, diagnosis, and management of the thalassemias, and reviews new prospects of therapy, focusing mostly on…”
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