Fabry disease (FD) is a rare X-linked lysosomal accumulation disorder caused by a deficiency in the enzyme alpha-galactosidase A (Gal A), resulting in excessive storage of glycosphingolipids, particularly globotriaosylceramide (Gb3). This leads to cellular dysfunction in various organs, with cardiovascular compromise being the major cause of morbidity and mortality. This study aimed to provide a comprehensive overview of FD focusing on its genetic, epidemiological, clinical, diagnostic, and therapeutic aspects. This study explored the genetic mutations associated with FD, its epidemiology, clinical phenotypes, cardiac manifestations, diagnostic approaches, and current treatment options. Background: FD is caused by mutations in GLA on the X chromosome, with over 1000 identified variants. Neonatal screening and specific studies have shown an increased incidence of FD. The clinical presentation varies between classic and late phenotypes, with cardiac involvement being a major concern, particularly in late-onset FD. Purpose: This study aimed to summarize the current knowledge on FD, emphasizing cardiac involvement, diagnostic modalities, and treatment options. Methods: A literature review of relevant studies on FD, including genetics, epidemiology, clinical presentation, diagnostic methods, and treatment options, was conducted. Results: Cardiac manifestations of FD included left ventricular hypertrophy (LVH), heart failure, arrhythmias, and sudden death. Diagnostic approaches such as electrocardiography, echocardiography, and cardiac magnetic resonance imaging play crucial roles in the early detection and monitoring of cardiac involvement. Enzyme replacement therapy (ERT) and emerging treatments have shown promise in managing FD, although challenges remain. Conclusions: FD remains a challenging condition in cardiology, with under-diagnosis being a concern. Early detection and specific therapy are essential to improve patient outcomes. Echocardiography and cardiac MRI are valuable tools for diagnosis and follow-up. De
Adrian Espejel-GuzmanEmily RodríguezValente Fernandez-BadilloJavier Serrano-RomanAldo Cabello-GanemAlexis Daniel Aparicio-OrtizAlberto Ramon-RiosMariali Palacios-CruzNilda Espinola-Zavaleta
Fabry–Perot(FP)modes are a class of fundamental resonances in photonic crystal(PhC)slabs.Owing to their low quality factors,FP modes are frequently considered as background fields with their resonance nature being neglected.Nevertheless,FP modes can play important roles in some phenomena,as exemplified by their coupling with guided resonance(GR)modes to achieve bound states in the continuum(BIC).Here,we further demonstrate the genuine resonance mode capability of FP modes PhC slabs.Firstly,we utilize temporal coupled-mode theory to obtain the transmittance of a PhC slab based on the FP modes.Secondly,we construct exceptional points(EPs)in both momentum and parameter spaces through the coupling of FP and GR modes.Furthermore,we identify a Fermi arc connecting two EPs and discuss the far-field polarization topology.This work elucidates that the widespread FPs in PhC slabs can serve as genuine resonant modes,facilitating the realization of desired functionalities through mode coupling.
The Fabry–Perot(FP) resonant cavity is widely used in laser and spectroscopic measurements due to its unique interference transfer function(ITF). In the ideal case of parallel incident light, the ITF of the FP resonant cavity can be expressed by the Airy function. However, in reality, it is difficult to achieve perfect parallelism with collimated beams. In this article, a theoretical model is established for non-parallel light incidence, which assumes that the non-parallel incident light is a cone-shaped beam, and the cone angle is used to quantify the non-parallelism of the beam. The transmittance function of the FP resonant cavity under non-parallel light incidence is derived. The accuracy of the model is experimentally verified. Based on this model, the effects of divergence angle, tilt angle and FP cavity parameters(reflectivity, cavity length)on the ITF are studied. The reasons for the decrease in peak value, broadening and asymmetry of the interference peak under non-parallel light incidence are explained. It is suggested that a fine balance between the interference peak and the collimation effect of the incident light should be considered in the design and application of FP resonant cavities, especially for tilted applications such as angle-scanned spectroscopy. The research results of this article have certain significance for the design and application of FP resonant cavities.
According to Kirchhoff's radiation law,the spectral-directional absorptivity(α)and spectral-directional emissivity(e)of an object are widely believed to be identical,which places a fundamental limit on photonic energy conversion and management.The introduction of Weyl semimetals and magneto-optical(MO)materials into photonic crystals makes it possible to violate Kirchhoff's law,but most existing work only report the unequal absorptivity and emissivity spectra in a single band,which cannot meet the requirements of most practical applications.Here,we introduce a defect layer into the structure composed of one-dimensional(1D)magnetophotonic crystal and a metal layer,which realizes dual-band nonreciprocal thermal radiation under a 3-T magnetic field with an incident angle of 60°.The realization of dual-band nonreciprocal radiation is mainly due to the Fabry-Perot(FP)resonance occurring in the defect layer and the excitation of Tamm plasmon,which is proved by calculating the magnetic field distribution.In addition,the effects of incident angle and structural parameters on nonreciprocity are also studied.What is more,the number of nonreciprocal bands could be further increased by tuning the defect layer thickness.When the defect layer thickness increases to 18.2μm,tri-band nonreciprocal thermal radiation is realized due to the enhanced number of defect modes in the photonic band gap and the FP resonance occurring in the defect layer.Finally,the effect of defect location on nonreciprocity is also discussed.The present work provides a new way for the design of multi-band or even broad-band nonreciprocal thermal emitters.
