Results 181 to 190 of about 357,051 (309)

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

CytoSorb^® Hemoadsorption in Post-Cardiac Arrest Syndrome After Out-of-Hospital Cardiac Arrest: A Propensity Score-Matched Cohort Study. [PDF]

Biomedicines
Kreutz J, Mihali K, Sievertsen V, Harbaum L, Chatzis G, Syntila S, Schieffer B, Markus B.   +7 more
europepmc   +1 more source

Assessing the Feasibility of Wearable Devices for Physiological Monitoring and Heat Risk Prediction in Outdoor Agricultural Workers

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Outdoor agricultural workers experience significant heat exposure, yet few studies have evaluated whether wearable sensors can reliably measure continuous physiological responses in real field conditions. This pilot study examined the feasibility and predictive utility of core temperature, hydration, heart rate, and movement data ...
Sinan Sousan, Elizabeth Mizelle, Qiang Wu, Rui Wu, Guy Iverson, Ciprian Popoviciu, Dylan Hemedinger, Eliezer Loyola, Takari Hood, Monica Ramirez, Jo Anne Balanay   +10 more
wiley   +1 more source

Intra-aortic adrenaline titration during cardiac arrest. [PDF]

Scand J Trauma Resusc Emerg Med
Manning JE, Barnard EBG, Barratt J, Rees PSC.   +3 more
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Impact of early cardiac arrest recognition by emergency medical service dispatchers on out-of-hospital cardiac arrest: a retrospective population-based observational study. [PDF]

Int J Emerg Med
Yamamoto K, Okuda H, Kinoshita A, Osaki T, Tsuruta K, Miyazaki K, Asai H, Kawai Y, Fukushima H.   +8 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Coronary angiography in cardiac arrest patients undergoing extracorporeal cardiopulmonary resuscitation. [PDF]

Neth Heart J
Bogerd M, de Haas JNR, Ten Berg S, Otterspoor LC, Claessen BEPM, Verouden NJW, Beijk MAM, Knaapen P, Appelman Y, Baan J, Lemkes JS, Vis MM, den Hartog AW, Grundeken MJ, Nap A, Delewi R, Vlaar APJ, Engström AE, Henriques JPS.   +18 more
europepmc   +1 more source