Results 61 to 70 of about 112,653 (266)

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Race and Household Income Are Associated With Disease Outcomes in Pediatric Patients With Antineutrophil Cytoplasmic Antibody–Associated Vasculitis Hospitalized in the United States

Arthritis Care &Research, EarlyView.
Objective Race and household income impact outcomes in patients with rheumatic conditions; however, their role in pediatric antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) remains poorly understood. We aimed to evaluate whether race and ethnicity and household income are associated with severe AAV disease and renal outcomes among
Roberto Alejandro Valdovinos, William Daniel Soulsby III, Emily von Scheven   +2 more
wiley   +1 more source

Beyond Visual Scoring: Computational Computed Tomography Analysis for High‐Resolution Computed Tomography–Based Quantification of Interstitial Lung Disease in Inflammatory Rheumatic Disease

Arthritis Care &Research, EarlyView.
Interstitial lung disease (ILD) is a significant cause of morbidity and mortality in patients with inflammatory rheumatic disorders (IRDs). High‐resolution computed tomography (HRCT) is widely considered the gold standard for the noninvasive assessment of ILD; however, its interpretation is constrained by substantial interobserver variability and the ...
Alexander Pfeil, Tobias Hoffmann, Ulf Teichgräber, Diane Renz, Denise Beckmann, Gunter Wolf, Nicole Schadewaldt, Bianca Lassen‐Schmidt   +7 more
wiley   +1 more source

Adams-Oliver syndrome, a successful conservative approach for a large scalp defect

Journal of Pediatric and Neonatal Individualized Medicine, 2015
Adams-Oliver syndrome was first described in 1945 as a multiple congenital malformations association including aplasia cutis congenita and terminal transverse limb defects, along with cardiovascular and central nervous system anomalies.
Vera Baptista, Albina Silva, Carla Sá, Joana Dias, Ana Raquel Silva, Angélica Osório, Carla Garcez, Almerinda Pereira   +7 more
doaj   +1 more source

Mortality reduction in pediatric patients with severe fatal human adenoviral pneumonia treated with high titer neutralizing antibodies (NAbs) plasma: a retrospective cohort study

BMC Pediatrics, 2022
Background Severe fatal human adenoviral (HAdV) pneumonia is associated with significant mortality and no effective drug is available for clinical therapy.
Hongyan Peng, Feiyan Chen, Yunlong Zuo, Bolun Huang, Yiyu Yang, Run Dang   +5 more
doaj   +1 more source

Incidence, Risk Factors and Management of Adverse Events in Contemporary Real‐World Care of Children with Juvenile Idiopathic Arthritis

Arthritis Care &Research, Accepted Article.
Objective We describe the frequency, risk factors, severity, and management of actionable and serious adverse events (AAE and SAE) in children with newly diagnosed Juvenile Idiopathic Arthritis (JIA) in Canada. Methods We enrolled patients within 3 months of JIA diagnosis in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry,
Bashayer Alnuaimi, Roberta A. Berard, Jean‐Philippe Proulx‐Gauthier, Heinrike Schmeling, Michelle Batthish, Gilles Boire, Adam M. Huber, Dax G. Rumsey, Jaime Guzman, Gaëlle Chédeville, The CAPRI registry Investigators   +10 more
wiley   +1 more source

Microfluidic Nano‐Assembly of Red‐Blood‐Cell (RBC) Lipids and Components for Engineering Extracellular Vesicles

Advanced Healthcare Materials, EarlyView.
Engineered red blood cell‐derived extracellular vesicles (eRBCEVs) are synthesized via controlled microfluidic assembly from native RBC lipids, enabling tunable encapsulation of proteins, nucleic acids, nanoparticles, and viral vectors. The platform demonstrates reproducible nanoscale architecture, preserved membrane composition, and functional cargo ...
Chiranth K. Nagaraj, Xilal Y. Rima, Kim T. Nguyen, Courtney Culkins, Nana Boateng, Jacob Doon‐Ralls, Alejandro Bresolin, Xin Huang, Hong Li, Vahedi Amid, Ajeet Pal Singh, Dharti Shantaram, Anastasiia Amari, Mangesh D. Hade, Nicholas R. Merriam, Zachary D. Schultz, Scott Q. Harper, Nizar Y. Saad, Setty M. Magaña, Willa A. Hsueh, Rachel E. Kopec, Blaise R. Kimmel, Andre F. Palmer, Eduardo Reátegui   +23 more
wiley   +1 more source

Lignin Mimicking Protein Methylation Augments the Efficacy of FOLFOX Chemotherapy by Anchoring Thymidylate Synthase

Advanced Materials, EarlyView.
Lignin‐mimicking protein methylation can enhance the efficacy and mitigate the toxicity of the classic FOLFOX chemotherapy regimen. ABSTRACT FOLFOX has served as the standard chemotherapy regimen for advanced stages, specifically in the treatment of pancreatic, colorectal, and bladder cancers.
Shiyao Song, Yan‐Lai Tang, Xiaoting Liu, Jiayi Zheng, Chong Wu, Tang Li, Junhong Ye, Dianmin Xia, Yong Mei, Jingxuan Ma, Libin Huang, Xuequn Luo, Liheng Chen, Yanlin Qin, Weiling He   +14 more
wiley   +1 more source

Metagenomic next-generation sequencing to detect Pneumocystis jirovecii pneumonia in critically ill, HIV-negative children: a retrospective multicenter study

BMC Pulmonary Medicine
Background Metagenomic next-generation sequencing (mNGS) plays a critical role in the rapid detection of infectious pathogens. We aimed to analyze the clinical characteristics of Pneumocystis jirovecii infection in children without HIV infection and to ...
Liming He, Yibing Cheng, Li Huang, Zhenyu Zhang, Qunqun Zhang, Ling Gong, Tian Li, Xiulan Lu, Xiaodi Cai, Gangfeng Yan   +9 more
doaj   +1 more source

Prader-Willi Syndrome: an under-recognized cause of hypotonia?

Journal of Pediatric and Neonatal Individualized Medicine, 2017
The “floppy infant” is a well-recognized entity characterized by general­ized hypotonia presenting at birth or in early life. Hypotonia represents a diagnostic challenge because it may be the presentation sign of numerous diseases, as central or ...
Marlene Rodrigues, Miguel Costa, Joana Teixeira, Carla Sá, Liliana Pinheiro, Eduarda Abreu, Albina Silva, Nicole Silva, Matos Marques, Miguel Rocha, Almerinda Pereira   +10 more
doaj   +1 more source