Results 81 to 90 of about 1,606,043 (303)

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

Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland

, 2012
BACKGROUND: Newborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many countries, but there is no ideal protocol suitable for all countries.
Baumgartner, Matthias R, Fingerhut, Ralph, Barben, Juerg, Gallati, Sabina, Baumgartner, Matthias R; https://orcid.org/, SWISS CF SCREENING GROUP,, Schoeni, Martin H, Torresani, Toni, Gallati, S., Fingerhut, R., Torresani, T., Schöni, Martin Heinrich, Barben, J., Baumgartner, M.R., SWISS CF SCREENING GROUP, Schoeni, M.H.   +15 more
core   +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

Trends in Neonatal Ophthalmic Screening Methods

, 2022
Neonatal ophthalmic screening should lead to early diagnosis of ocular abnormalities to reduce long-term visual impairment in selected diseases. If a treatable pathology is diagnosed within a few days after the birth, adequate therapy may be indicated to
Krejčířová, Inka, Inka Krejčířová, Česká Burdová, Marie, Mareš, Jan, Martin Hložánek, Zbyněk Straňák, Marie Česká Burdová, Straňák, Zbyněk, Hložánek, Martin, Terešková, Zuzana, Zuzana Terešková, Jan Mareš   +11 more
core   +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

Multidimensional and Multifunctional Laser‐Induced Graphene (LIG) for Point‐of‐Care and Wearable Biosensing, Theranostics, and Bioactive Interfaces Toward Personalized Healthcare and Regenerative Medicine

Advanced Science, EarlyView.
Multidimensional laser‐induced graphene (LIG) spanning from 0D to 3D architectures is comprehensively reviewed for multifunctional biomedical platforms, including biosensing, theranostics, and bioactive interface applications, which highlights its potentials for point‐of‐care diagnostics, wearable health monitoring, smart drug delivery, and tissue ...
Li Zhang, Yurou Yuan, Xiaohong Ding, Wing Cheung Mak   +3 more
wiley   +1 more source

Organoid Brain‐Machine‐Interface Devices for Central Nervous System Repair

Advanced Science, EarlyView.
We envision organoid brain‐machine‐interface (Organoid‐BMI) devices as new biohybrid bidirectional communication pathways to connect the human CNS and the external world for personalized CNS repair and regeneration. ABSTRACT Central nervous system (CNS) repair and regeneration suffer from tremendous clinical challenges due to current limitations in ...
Yantao Xing, Yang Yang, Zichen Hong, Chunhui Tian, Huiyu Chu, Susanne Clara Prokop, Hongwei Cai, Mingxia Gu, Jason Tchieu, Ken Mackie, Feng Guo   +10 more
wiley   +1 more source

Acknowledgement to Reviewers of International Journal of Neonatal Screening in 2019

International Journal of Neonatal Screening, 2020
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Orphanet Journal of Rare Diseases, 2018
Background Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of genes encoding for lysosomal enzymes cause defects in the degradation of glycosaminoglycans (GAGs).
Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, You-Hsin Huang, Min-Ju Chan, Hsuan-Chieh Liao, Yun-Ting Lo, Li-Yun Wang, Ru-Yi Tu, Yi-Ya Fang, Tzu-Lin Chen, Hui-Chen Ho, Chuan-Chi Chiang, Shuan-Pei Lin   +13 more
doaj   +1 more source