Results 11 to 20 of about 149 (144)
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Targeted synthetic disease‐modifying antirheumatic drugs (tsDMARDs) have expanded the management of autoimmune diseases, including rheumatic diseases. As the use of these drugs grows, it is important to understand their effects on pregnancy.
Vienna Cheng +7 more
wiley +1 more source
Advanced Functional Materials, EarlyView.Joule‐assisted nanotherapeutic urethral stent harnesses a smart, biodegradable magnesium stent to orchestrate spatiotemporal theragenerative therapy for urethral strictures. Magnetically induced Joule heating enables on‐demand drug release and bacterial ablation, while simultaneously guiding urothelial regeneration.
Yuhyun Na +15 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.This proof‐of‐concept study involves high‐throughput teratogenicity screening of compounds using XEn/EpiCs, a 3D stem cell‐based embryo model, within microwells. The term ‘morphotoxicity’ is introduced to complement traditional cytotoxicity assays through automated feature extraction and machine‐learning‐assisted classification of morphologies.
Vinidhra Shankar +4 more
wiley +1 more source
Materials Advances in Devices for Heart Disease Interventions
Advanced Materials, EarlyView.This review examines the crucial role of materials in heart disease interventions, focusing on strategies for monitoring, managing, and repairing heart conditions. It discusses the material requirements for medical devices, highlighting recent innovations and their impact on cardiovascular health.
Gagan K. Jalandhra +11 more
wiley +1 more source
Non‐Invasive Diagnosis of Hypertrophic Cardiomyopathy by Breath
Advanced Sensor Research, EarlyView.The use of sensor technologies for the diagnosis of hypertrophic cardiomyopathy (HCM) by identification of volatile organic compounds (VOCs) in breath samples. By combining gas chromatography‐mass spectrometry (GC‐MS) and electronic nose (eNose) platforms, specific VOC patterns associated with HCM are detected and analyzed.
Yael Hershkovitz‐Pollak +5 more
wiley +1 more source
Emerging Therapeutic Strategies for Hearing Loss
Advanced Therapeutics, EarlyView.Challenges still exist in treating hearing loss in cases of severe damage to hair cells or spiral ganglion neurons. Here, a schematic diagram of cochlear sensory hair cells and auditory nerves is presented. It is found that in normal Corti organs, hair cells have upright stereocilia at the top and auditory neurons at the base. Ototoxic drugs, noise, or
Shanying Han +9 more
wiley +1 more source
Advanced Science, EarlyView.AAV2.7m8 serotype combined with the gfaABC1D promoter targets infection of supporting cells (SCs). AAV2.7m8‐gfaABC1D‐Gjb2 administration to mice results in excessive immune responses. The combination of AAV2.7m8‐gfaABC1D‐Gjb2 with dexamethasone (DEX) shows a synergistic effect and enhances the gene therapy effect in a conditional Cx26 null mice model ...
Xiaohui Wang +8 more
wiley +1 more source