Results 241 to 250 of about 354,255 (314)

Correction of Ineffective Erythropoiesis and Normalization of Iron Homeostasis After Exagamglogene Autotemcel in Transfusion‐Dependent β‐Thalassemia

American Journal of Hematology, EarlyView.
ABSTRACT Exagamglogene autotemcel (exa‐cel) is a one‐time, ex vivo, CRISPR‐Cas9 gene edited cell therapy approved for patients with transfusion dependent β‐thalassemia (TDT) aged 12–35 years. In a Phase 3 study (CLIMB THAL‐111), exa‐cel treatment resulted in reactivation of fetal hemoglobin and increases in total hemoglobin, leading to transfusion ...
Sujit Sheth, Selim Corbacioglu, Josu de la Fuente, Mattia Algeri, Joachim Rupprecht, Kevin H. M. Kuo, Ami J. Shah, Peter Lang, Hayley Merkeley, Ben Carpenter, Markus Y. Mapara, Robert I. Liem, Stephan Grupp, Yogi Chopra, Amanda M. Li, Janet L. Kwiatkowski, Melanie Kirby‐Allen, Maria Domenica Cappellini, Antonis Kattamis, Sakellarios Zairis, Tina Liu, William Hobbs, Haydar Frangoul, Franco Locatelli, Roland Meisel, on behalf of the CLIMB THAL‐111 and CLIMB‐131 Study Groups   +25 more
wiley   +1 more source

Manganism in an End-Stage Renal Disease Patient on Maintenance Hemodialysis. [PDF]

Ann Indian Acad Neurol
Kumar AV, Gopaluni S, Kalantri P, Chavva SP, Gopal PB, Chandrabatla B, Puvvula LS.   +6 more
europepmc   +1 more source

Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease

American Journal of Hematology, EarlyView.
ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain, Noffar Bar, Lilu Guo, Katherine Klinger, Punita Gupta, Atta Ur Rahman, Ruhua Yang, Yanhong Deng, Natalia Neparidze, Shiny Nair, Pramod K. Mistry   +10 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Acute Pancreatitis Associated with Propofol in a Patient with End-Stage Renal Disease: Diagnostic Challenges and Confounding Factors. [PDF]

J Pharm Technol
Itzayana Guadalupe WR, Francisco Javier AG, Silvia RM, Susanna Edith MG, Juan Manuel MN, Lucila Isabel CP, Rosa Del Carmen MS.   +6 more
europepmc   +1 more source

Progressive painful skin lesions in a patient with end-stage renal disease. [PDF]

JAAD Case Rep
Daniels P, James L, Stocks K, Pulsipher K, Cheng W, Rice A.   +5 more
europepmc   +1 more source

The Predictors of New-Onset Atrial Fibrillation in End-Stage Renal Disease Patients: A Multi-Center Retrospective Observational Study. [PDF]

J Clin Med
Zayed AA, Moumneh MB, Abofrekha B, Itani H, Khayat O, Abouelnas A, Amor MM.   +6 more
europepmc   +1 more source

Smartphone-based point-of-care analyzer for rapid hemoglobin and potassium monitoring in end-stage renal disease and perioperative renal transplantation patients. [PDF]

Ren Fail
Fang Y, Wu S, Wu Z, Wang Y, Fu Q, Miao Y.   +5 more
europepmc   +1 more source