Results 41 to 50 of about 311,119 (252)

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Epidemiology, patterns of care, and mortality for patients with acute respiratory distress syndrome in intensive care units in 50 countries [PDF]

, 2016
IMPORTANCE: Limited information exists about the epidemiology, recognition, management, and outcomes of patients with the acute respiratory distress syndrome (ARDS).
Alejandro, Risso V., Alvarez, Javier, Bellani, Giacomo, Bettini, Lisandro R., Bisso, Mariano Carboni, Brochard, Laurent, Cani, Alma, Cardonnet, Luis P., Chena, Ariel, Conti, Sara, Daldin, Julio, Dellera, Christian, Esteban, Andres, Estenssoro, Elisa, Fan, Eddy, Fernandez, Ruben O., Francois, Guy M., Gattinoni, Luciano, Grubissich, Nicolas, Ilutovich, Santiago, Insaurralde, Carolina S., Laffey, John G., Larsson, Anders, Lovazzano, Pablo, Madotto, Fabiana, McAuley, Daniel F., Nunci, Lordian, Osman, Emilio M., Pellegrini, Carlos A., Pesenti, Antonio, Pham, Tài, Plotnikow, Gustavo A., Pozo, Norberto C., Rabboni, Francesca, Ranieri, Marco, Rubenfeld, Gordon, Saenz, María G., Schultz, Marcus J., Setten, Mariano G., Simonis, Fabienne D., Slutsky, Arthur S., Sula, Hektor, Thompson, B. Taylor, Tiribelli, Norberto, van Haren, Frank, Vasquez, Daniela N., Villar, Veronica, Vinzio, Mauricio, Wrigge, Hermann, Zazu, Alan   +49 more
core   +3 more sources

Application of humanized mice in the safety experiments of antibody drugs

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract of this review highlights the critical role of humanized mice in the safety evaluation of antibody drugs. First, the inherent immunogenicity of antibody drugs can lead to the production of antidrug antibodies and hypersensitivity reactions on repeated administration.
Zhimin Sun, Mengyun Gu, Zixuan Yang, Lei Shi, Liyuan Zhao, Minhui Zheng, Yan Wang, Wei Zhang, Kexin Han, Naping Tang   +9 more
wiley   +1 more source

Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

Liver Transplantation, EarlyView., 2022
Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala, Bridget Whitehead, Justin Godown, Matt Hall, Anna Banc‐Husu, Estella M. Alonso, Sarah A. Taylor   +6 more
wiley   +1 more source

Novel translational approaches to the search for precision therapies for acute respiratory distress syndrome. [PDF]

, 2017
In the 50 years since acute respiratory distress syndrome (ARDS) was first described, substantial progress has been made in identifying the risk factors for and the pathogenic contributors to the syndrome and in characterising the protein expression ...
Calfee, Carolyn S, Meyer, Nuala J
core   +1 more source

Establishment of rat model for aspiration pneumonia and potential mechanisms

Animal Models and Experimental Medicine, EarlyView.
Aspiration pneumonia was induced in Sprague Dawley rats by intratracheal instillation of hydrochloric acid (HCl, 1.5 μL/g.wt, pH = 1) followed by lipopolysaccharide (LPS, 20 μg/g.wt) after 1 h. The model reproduced hallmark features of acute lung injury, including histological lung damage, microvascular dysfunction, inflammation, hypoxemia, and ...
Hanbing Hu, Junfeng Chen, Yiru Shao, Yuedong Tang, Yu Dun, Obulkasim Memet, Xuanrong Bao, Jie Shen   +7 more
wiley   +1 more source

Adverse events associated with monoclonal antibodies used for treatment of COVID‐19: A systematic review and meta‐analysis

British Journal of Clinical Pharmacology, Volume 91, Issue 5, Page 1306-1321, May 2025.
Aims This review aimed to synthesise the evidence related to the incidence of serious and non‐serious adverse events with the use of monoclonal antibodies (mAbs) among COVID‐19 patients. Methods Databases were searched from January 2020 to September 2023 for randomized clinical trials (RCTs) that used mAbs for the treatment of COVID‐19 regardless of ...
Htet Htet, Han You Kyung, Ismail Abdul Sattar Burud, Heethal Jaiprakash, Thiruselvi Subramaniam, Igor Iezhitsa, Renu Agarwal   +6 more
wiley   +1 more source

Pharmacokinetics of betamethasone in pre‐eclampsia: An in vivo and ex vivo study

British Journal of Clinical Pharmacology, EarlyView.
Aims To enhance understanding of betamethasone and its metabolites' pharmacokinetics in pregnancy, specifically early‐onset pre‐eclampsia, through a population pharmacokinetic model. Additionally, to investigate the placental metabolism and transfer of betamethasone and its main metabolites.
Sam Schoenmakers, Letao Li, Anna C. M. Kluivers, Michelle Broekhuizen, Madhavi S. Harhangi, A. H. Jan Danser, Irwin Reiss, Karel Allegaert, Sjoerd A. A. van den Berg, Bertrand D. van Zelst, Ron H. N. van Schaik, Philip L. J. DeKoninck, Emma Ronde, Sebastiaan D. T. Sassen, Sinno H. P. Simons, Birgit C. P. Koch   +15 more
wiley   +1 more source

Hubungan Usia Ibu dan Asfiksia Neonatorum dengan Kejadian Respiratory Distress Syndrome (RDS) pada Neonatus di RSUD Abdul Wahab Sjahranie Samarinda [PDF]

, 2020
Tujuan studi: Untuk mengetahui hubungan antara usia ibu dan Asfiksia Neonatorum dengan kejadian Respiratory Distress Syndrome (RDS) pada neonatus di RSUD Abdul Wahab Sjahranie. Metodologi: penelitian ini adalah kuantitatif berbentuk Descriptive
wahyuni, sri sri, Wiwin, Ni Wayan
core   +1 more source