Results 61 to 70 of about 15,911 (308)

International guidelines for the management and treatment of Morquio A syndrome. [PDF]

, 2014
Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian J, Kampmann, Christoph, Mackenzie, William G, Raiman, Julian, Savarirayan, Ravi, Villarreal, Martha Solano   +8 more
core   +2 more sources

Membrane Fusion‐Inspired Nanomaterials: Emerging Strategies for Infectious Disease and Cancer Diagnostics

Advanced Healthcare Materials, EarlyView.
Membrane fusion‐inspired nanomaterials offer transformative potential in diagnostics by mimicking natural fusion processes to achieve highly sensitive and specific detection of disease biomarkers. This review highlights recent advancements in nanomaterial functionalization strategies, signal amplification systems, and stimuli‐responsive fusion designs,
Sojeong Lee, Khulan Nyamzaya, Jueun Han, Yejin Song, Jihee Lee, Jung Hyun Jo, Seungmin Bang, Eun‐Kyung Lim, Seungjoo Haam, Eunjung Kim   +9 more
wiley   +1 more source

Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy

Pediatric Investigation, 2022
Importance CHD2 is a member of the chromodomain helicase DNA‐binding (CHD) family of proteins, which have important roles in the regulation of gene expression. Dysregulation of this protein may lead to various disorders.
Weixing Feng, Fang Fang, Xiaohui Wang, Chunhong Chen, Junlan Lu, Jie Deng   +5 more
doaj   +1 more source

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Van Der Waals Hybrid Integration of 2D Semimetals for Broadband Photodetection

Advanced Materials, EarlyView.
Advanced broadband photodetector technologies are essential for military and civilian applications. 2D semimetals, with their gapless band structures, high mobility, and topological protection, offer great promise for broadband PDs. This study reviews the latest advancements in broadband PDs utilizing heterostructures that combine 2D semimetals with ...
Xue Li, Kunxuan Liu, Di Wu, Pei Lin, Zhifeng Shi, Xinjian Li, Longhui Zeng, Yang Chai, Shu Ping Lau, Yuen Hong Tsang   +9 more
wiley   +1 more source

Failure to achieve lupus low disease activity state (LLDAS) six months after diagnosis is associated with early damage accrual in Caucasian patients with systemic lupus erythematosus [PDF]

, 2017
Background: The aim was to assess the attainability and outcome of the lupus low disease activity state (LLDAS) in the early stages of systemic lupus erythematosus (SLE).
CAPPELLAZZO, GIULIA, Cauli, Alberto, Chessa, Elisabetta, Congia, Mattia, Floris, Alberto, Mathieu, Alessandro, Piga, Matteo   +6 more
core   +1 more source

Advances in Photonic Materials and Integrated Devices for Smart and Digital Healthcare: Bridging the Gap Between Materials and Systems

Advanced Materials, EarlyView.
This article summarizes significant technological advancements in materials, photonic devices, and bio‐interfaced systems, which demonstrate successful applications for impacting human healthcare via improved therapies, advanced diagnostics, and on‐skin health monitoring.
Seunghyeb Ban, Hoon Yi, Jaejin Park, Yunuo Huang, Ki Jun Yu, Woon‐Hong Yeo   +5 more
wiley   +1 more source

Association of systemic lupus erythematosus clinical features with european population genetic substructure [PDF]

, 2011
Alonso-Perez, E., Suarez-Gestal, M., Calaza, M., Witte, T., Papasteriades, C., Marchini, M., Migliaresi, S., Kovacs, A., Ordi-Ros, J., Bijl, M., Santos, M.J., Ruzickova, S., Pullmann, R., Carreira, P., Skopouli, F.N., D'Alfonso, S., Sebastiani, G.D ...
Alonso Pérez, Elisa, Calaza, Manuel, Kovács, Attila, Marchini, Maurizio, Migliaresi, Sergio, Ordi Ros, Josep, Suárez Díaz, Ana María, Suárez Gestal, Marian, Wittw, Torsten   +8 more
core   +9 more sources

A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome [PDF]

, 2009
We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance.
Cockayne, Funaki, Hirooka, Kruglyak, Lehmann, Lehmann, Mallery, Mayne, Nance, Reiss, Sato, Tan   +11 more
core   +3 more sources

From Mechanoelectric Conversion to Tissue Regeneration: Translational Progress in Piezoelectric Materials

Advanced Materials, EarlyView.
This review highlights recent progress in piezoelectric materials for regenerative medicine, emphasizing their ability to convert mechanical stimuli into bioelectric signals that promote tissue repair. Key discussions cover the intrinsic piezoelectric properties of biological tissues, co‐stimulation cellular mechanisms for tissue regeneration, and ...
Xinyu Wang, Sílvio Terra Stefanello, Victor Shahin, Yun Qian   +3 more
wiley   +1 more source