Results 41 to 50 of about 238,541 (307)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Adaptive Hydrogels With Spatiotemporal Stiffening Using pH‐Modulating Enzymes

Advanced Functional Materials, EarlyView.
The chemomechanical coupling in an adaptive hydrogel is studied to further the development of adaptive hydrogels. This coupling is achieved by embedding a pH‐modulating enzyme in a pH‐responsive hydrogel. The enzymatic reaction can be triggered locally, which generates a pH‐decreasing wave throughout the system, increasing the crosslinking density and ...
Natascha Gray, Zoe Grämiger, André R. Studart, Rafael Libanori   +3 more
wiley   +1 more source

Engineered Heparinized GQDS/HPEI–Polyamide Membrane for Bilirubin Removal via One Step Anti Coagulation

Advanced Materials Interfaces, EarlyView.
A multifunctional heparinized polyamide membrane embedded with graphene quantum dots (GQDs) and hyperbranched polyethyleneimine (HPEI) is engineered for efficient bilirubin removal via a one‐step anticoagulation–adsorption process. The membrane demonstrates enhanced hemocompatibility, prolonged clotting times, and high bilirubin adsorption capacity ...
Abdur Rehman Mushtaq Ahmad, Maria Wasim, Aneela Sabir, Muhammad Shafiq, Syed Abdul Basit Shah, Maoz Maoz, Vanni Lughi   +6 more
wiley   +1 more source

ERK‐Mediated Phosphorylation of YAP Defines a Noncanonical FGF Signaling Mechanism in Stem Cells

Advanced Science, EarlyView.
With a powerful combination of in vivo, ex vivo, and in vitro models, the authors highlight a novel FGF‐ERK signaling regulation of YAP at the S128 site in neural crest‐derived stem cells. This study opens exciting new directions in stem cell biology and craniofacial biology, paving the way for potential innovations in the treatment of craniofacial ...
Xiaolei Zhao, Shannon Erhardt, Li Tang, Xiaotong Chen, Stephen M Farmer, Zixiu Cheng, Wen Chen, Ella Ziyuan Lu, Kihan Sung, Chang‐Ru Tsai, Mingjie Zheng, Sheng Zhang, Yang Liu, Jianxin Wang, Min Li, James F Martin, Jun Wang   +16 more
wiley   +1 more source

Respiratory Failure in an Extremely Premature Neonate with COVID-19

Children, 2021
Coronavirus disease 2019 (COVID-19), a condition associated with SARS-CoV-2, typically results in mild infection in infants and children. However, children with risk factors such as chronic lung disease and immunosuppression have higher risk of severe ...
Vasantha H. S. Kumar, Arun Prasath, Clariss Blanco, Patrick O. Kenney, Christina M. Ostwald, Tracy S. Meyer, Cara F. Clementi, Richard Maciejewski, Mark T. Wilby, Anne Marie Reynolds, N Ja Hpa, Karl O. A. Yu   +11 more
doaj   +1 more source

Keskosen vanhempien tukeminen [PDF]

, 2011
Keskosen vanhempien tukeminen Projekti toteutettiin Laurea-ammattikorkeakoulun ja HYKS -sairaanhoitoalueen Naisten- ja ‎lastentautien tulosyksikön yhteistyöhankkeessa.
Keränen, Johanna, Larkko, Anne
core  

The Effect of Mother Empowerment Program on Mothers’ Attachment to their Hospitalized Premature Neonates [PDF]

Journal of Evidence-Based Care, 2015
Background: Birth of a premature neonate is associated with hospital admission and separation from the family. Admission of the neonates intervenes on infant-mother attachment and so adversely affects on the quality of care given by the mother, and ...
Soheila Karbandi, Azam Momenizadeh, Mohammad Hydarzadeh, Seyedreza Mazlom, Mohammadhasan Hasanzadeh   +4 more
doaj   +1 more source

Initial Metabolic Profiles Are Associated with 7-Day Survival among Infants Born at 22-25 Weeks of Gestation. [PDF]

, 2018
OBJECTIVE:To evaluate the association between early metabolic profiles combined with infant characteristics and survival past 7 days of age in infants born at 22-25 weeks of gestation. STUDY DESIGN:This nested case-control consisted of 465 singleton live
Anderson, James G, Baer, Rebecca J, Jelliffe-Pawlowski, Laura L, Oltman, Scott P, Pantell, Matthew S, Partridge, J Colin, Rand, Larry, Rogers, Elizabeth E, Ryckman, Kelli K, Steurer, Martina A   +9 more
core   +1 more source