Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations
Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad +11 more
wiley +1 more source
Corkscrew retinal vessels and retinal arterial macroaneurysm in a patient with neurofibromatosis type 1: A case report. [PDF]
Lu J, Liu H, Zhang L, Ma L, Zhou H.
europepmc +1 more source
Piezo2 in Mechanosensory Biology: From Physiological Homeostasis to Disease‐Promoting Mechanisms
Piezo2 channels are essential mechanotransducers regulating touch, proprioception and visceral mechanosensation across physiological systems, emerging as therapeutic targets for pathological mechanical hypersensitivity and neurogenic disorders. ABSTRACT Piezo2, a mechanically activated ion channel, serves as the key molecular transducer for touch ...
Zhebin Cheng +4 more
wiley +1 more source
Changes in Relative Position of Choroidal Versus Retinal Vessels in Preterm Infants. [PDF]
Kim SJ +6 more
europepmc +1 more source
Abstract Aim CD4 + CD25highCD127‐T regulatory cells (Tregs) remain a drug candidate for immunotherapy of type 1 diabetes. We completed three trials testing Tregs in recently diagnosed type 1 diabetes children. Here, we looked for long‐term safety and efficacy aspects important in the authorisation of this therapy.
Marta Bandura +18 more
wiley +1 more source
Contrast Agent Enhanced Multimodal Photoacoustic Microscopy and Optical Coherence Tomography for Imaging of Rabbit Choroidal and Retinal Vessels in vivo. [PDF]
Nguyen VP +10 more
europepmc +1 more source
A matter arising: When should inflammatory and autoimmune rheumatic diseases be considered ‘early’?
Timely recognition of inflammatory and autoimmune rheumatic diseases (IARDs) is important to optimize the early diagnosis with tailored interventions and possible prevention of irreversible organ damage. This narrative review provides an update by summarizing the advances in identifying the early stages of rheumatoid arthritis, systemic sclerosis and ...
Elvis Hysa +7 more
wiley +1 more source
ABSTRACT Aim To compare the item difficulty and discriminative index of multiple‐choice questions (MCQs) generated by ChatGPT with those created by dental educators, based on the performance of dental students in a real exam setting. Materials and Methods A total of 40 MCQs—20 generated by ChatGPT 4.0 and 20 by dental educators—were developed based on ...
Nezaket Ezgi Özer +4 more
wiley +1 more source
The effect of vitreomacular and cataract surgery on oxygen saturation in retinal vessels. [PDF]
Nakano Y +9 more
europepmc +1 more source

