Results 181 to 190 of about 373,905 (314)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

When the Beat Breaks the Heart: A Case of Arrhythmia-Induced Mid-ventricular Takotsubo Cardiomyopathy. [PDF]

Cureus
Riaz RK, Mathews R, Maher A.
europepmc   +1 more source

A Stretchable, Mechanically‐Interlocked Polyrotaxane Hydrogel for Wearable Motion and Electrophysiological Monitoring

Advanced Science, EarlyView.
A mechanically interlocked polyrotaxane hydrogel integrates sliding macrocycles within a covalent network, yielding skin‑like softness, high stretchability, robust adhesion, and stable ionic conductivity. This multifunctional interface enables simultaneous high‑fidelity monitoring of human motion and epidermal electrophysiological signals (ECG/EMG ...
Hao‐Zheng Huang, Yu‐Tao Zheng, Feng Chen, Jing‐Yi Li, Wen‐Hui Zhang, Liang Ding, Zhegang Huang, Wei Jiang, Li‐Ping Huang, Xing‐Can Shen   +9 more
wiley   +1 more source

A Correlative SICM‐OPM Platform for Surface and Volumetric Imaging in Live Cells

Advanced Science, EarlyView.
A multifunctional correlative imaging platform integrating Scanning Ion Conductance Microscopy (SICM) with Oblique Plane Microscopy (OPM) enables simultaneous surface topography, mechanical mapping, and 3D volumetric fluorescence imaging in live cells.
Wenzhi Hong, Ziwei Zhang, Ao Li, Ting Sun, Yunzhao Wu, Devkee M. Vadukul, Dylan Jones, Bing Li, Fengjie Liu, Francesco A. Aprile, Yuri Korchev, Julia Gorelik, David Klenerman, Andrew Shevchuk   +13 more
wiley   +1 more source

Percutaneous pulmonary valve implantation in humans - Results in 59 consecutive patients

, 2005
Background - Right ventricular outflow tract (RVOT) reconstruction with valved conduits in infancy and childhood leads to reintervention for pulmonary regurgitation and stenosis in later life.Methods and Results - Patients with pulmonary regurgitation ...
Coats, L, Razavi, RS, Bonhoeffer, P, Boudjemline, Y, Khambadkone, S, Pellerin, D, Deanfield, J, Tsang, V, Derrick, G, Cooper, J, Taylor, A, Muthurangu, V, Hegde, SR   +12 more
core  

A case report of a secondary Takotsubo syndrome after sudden cardiac arrest in a teenager with LQTS2. [PDF]

Eur Heart J Case Rep
Georgiadis M, Ziakos A, Kamper L, Haage P, Seyfarth M, Abanador-Kamper N.   +5 more
europepmc   +1 more source

A Dual‐Channel Synergistic Ultrasensitive Biosensor for Tumor Liquid Biopsy

Advanced Science, EarlyView.
ABSTRACT Liquid biopsy technology, which detects circulating tumor DNA (ctDNA) in cerebrospinal fluid, plays a crucial role in the early diagnosis and precision treatment of gliomas. However, the intrinsically low abundance and rapid clearance of ctDNA pose substantial challenges for conventional analytical techniques, such as droplet digital PCR and ...
Yu Sun, Jing Zhang, Chenqing Liu, Jing Lou, Sihui Wang, Xiangtian Ji, Xiaofang Zhao, Shirui Xu, Jingyu Feng, Bin Liu, Chao Chang, Qinggang Ge, Jun Yang   +12 more
wiley   +1 more source

Paradoxical Rise in Pulmonary Artery Pressure Following Successful Mavacamten Therapy for Obstructive Hypertrophic Cardiomyopathy: A Case Report. [PDF]

Clin Case Rep
Zhang M.
europepmc   +1 more source

Biomimetic Bone Marrow Monocyte Membrane‐Fused Extracellular Vesicles for Targeted Therapy of Myocardial Infarction

Advanced Science, EarlyView.
This study develops a biomimetic delivery system (M‐hEV) by fusing monocyte membranes with extracellular vesicles for targeted therapy of damaged cardiac tissue. The system homes to injured myocardium through specific molecular pathways. In a myocardial infarction model, M‐hEV effectively accumulates in the heart, reduces infarct size, alleviates ...
Jiaxin Song, Hao Yang, Qiqi Zhang, Wenqin Zhou, Rui Wang, Yuxing Xie, Emeli Chatterjee, Guoping Li, Jizong Jiang, Qiulian Zhou, Cuimei Zhao   +10 more
wiley   +1 more source

Prevalence and Characteristics of Cardiac Arrhythmia in Duchenne Muscular Dystrophy: A Retrospective, Single-Center Holter Electrocardiographic Monitoring Study. [PDF]

Eur J Neurol
Sugiyama R, Takeshita E, Aihara Y, Shimizu-Motohashi Y, Izumi S, Oba M, Komaki H.   +6 more
europepmc   +1 more source