Results 51 to 60 of about 247,020 (262)

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Molecular Diagnosis in Children With Febrile Seizures: Beyond the Conventional Clinical Classification

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Febrile seizures (FS) are currently classified as simple or complex primarily to describe seizure characteristics, with limited ability to identify the underlying etiology. We evaluated whether molecular diagnosis could complement conventional classification and improve the diagnosis and management of FS.
Jia Wang, Mengna Zhang, Yangyang Wang, Xiuyu Shi, Baoguang Li, Xiuxia Wang, Dan Sun, Sanqing Xu, Jianbo Zhao, Lijun Du, Qiming Pang, Xiaoming Liu, Chunhui Tang, Xiaohua Li, Jiuwei Li, Yanli Ma, Jianxiang Liao, Gulixian Abudureyimu, Jianmin Liang, Yuan Wang, De Wu, Jian Wu, Liping Zou   +22 more
wiley   +1 more source

Measuring Blood Plasma Glutamine Levels Using a Nanopore‐Based Sensor

Advanced Healthcare Materials, EarlyView.
Glutamine (GLN) is a biomarker useful for predicting toxic ammonia accumulation. Here, we used a biosensor based on the Cytolysin A (ClyA) nanopore coupled with the GLN‐specific protein substrate‐binding domain 2 (SBD2) to demonstrate real‐time measurement of GLN in blood plasma, highlighting the potential for future point‐of‐care applications ...
Sofia B. Relvas, Iris M. Kormelink, Sandra Michel‐Souzy, Florian L. R. Lucas, Nieck J. van der Heide, Hans R. Waterham, Ramon Versteeg, Judith Jans, Loes I. Segerink, Carsten Wloka   +9 more
wiley   +1 more source

The Multifaceted Burden of Respiratory Syncytial Virus (RSV) Infections in Young Children on the Family: A European Study

Infectious Diseases and Therapy
Introduction Since the majority of hospitalisations due to RSV occur in young children, the illness profoundly influences the entire family. However, comprehensive evidence regarding its overall effects remains limited.
Ilona Trautmannsberger, Barbara Plagg, Ina Adamek, Silke Mader, Daniele de Luca, Susanna Esposito, Sven Arne Silfverdal, Luc J. I. Zimmermann, Christina Tischer, the ResQ Family study group   +9 more
doaj   +1 more source

The Future of Research in Cognitive Robotics: Foundation Models or Developmental Cognitive Models?

Advanced Robotics Research, EarlyView.
Research in cognitive robotics founded on principles of developmental psychology and enactive cognitive science would yield what we seek in autonomous robots: the ability to perceive its environment, learn from experience, anticipate the outcome of events, act to pursue goals, and adapt to changing circumstances without resorting to training with ...
David Vernon
wiley   +1 more source

Real‐Time Holographic Feedback via Mixed Reality Sensorized Laryngoscope Training System Enhances Pediatric Intubation Training

Advanced Robotics Research, EarlyView.
We proposed a Mixed Reality Sensorized Laryngoscope Training System to provide real‐time holographic torque feedback during pediatric endotracheal intubation simulation. Visualization formats are evaluated to reduce tracking error and visual demand.
Jiaqi Li, Ryman Hashem, Ningzhe Hou, Perla Maiolino, Louis Halamek, Liang He   +5 more
wiley   +1 more source

An Anti‐Amyloidogenic Approach to Specifically Block Memory Consolidation in Mice for Therapeutic Intervention

Advanced Science, EarlyView.
Functional amyloid conversion of the translation regulator CPEB3 is essential for long‐term memory persistence. This study demonstrates that targeting this molecular switch with the anti‐amyloidogenic peptide QBP1 selectively blocks CPEB3 fibrillation without disrupting phase separation.
Paula López‐García, Kerry R. McGreevy, Maria Eugenia Vaquero, Juan M. Suarez‐Rivero, Antonio Moreno‐Rodríguez, Antonio J. Pérez‐Pulido, Daniel Ramírez de Mingo, Anna Pallé, Helena Akiko Popiel, Andrea Santi, Mario D. Cordero, José Luis Trejo, Yoshitaka Nagai, Mariano Carrión‐Vázquez   +13 more
wiley   +1 more source

Delayed-Interval Delivery in Multiple Pregnancy: A Single-Center Experience of Five Cases

American Journal of Perinatology Reports
Objectives To describe the obstetric management and perinatal outcomes in multiple pregnancies with delayed-interval delivery (DID) of the cotwin in a tertiary hospital.
Roaa Hassan Gadeer, Ahlam Alhinai, Karen Fung-Kee-Fung, Ana Werlang   +3 more
doaj   +1 more source

Charting Endocrine Progenitors Across Species and Organs

Advanced Science, EarlyView.
Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing, Michael Sterr, Özüm Sehnaz Caliskan, Lama Saber, Nicole Katarina Rogers, Samuel Ogden, Kei Kozawa, Christos Karampelias, Jessica Jaki, Aimée Bastidas‐Ponce, Falk Janos Farkas, Oliver Czarnecki, Osvaldo Rodrigues Pereira, Perla Cota, Valerie Vandenbempt, Diego Balboa, Anika Böttcher, Natalie Krahmer, Mohammad Lotfollahi, Julie B. Sneddon, Heiko Lickert, Mostafa Bakhti   +21 more
wiley   +1 more source

Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant

Molecular Genetics and Metabolism Reports
Background: Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disease associated with variants in the ACADVL gene.
Wei Zhou, Huizhong Li, Li Yang
doaj   +1 more source