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 ne...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.展开更多
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 resona...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.展开更多
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 globotriaosy...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. Despite the advances in treatment, accessibility remains an issue. More research is needed to deepen our understanding of FD and to improve therapeutic strategies.展开更多
Fabry Disease (FD) is a rare lysosomal storage disorder characterized by α-galactosidase A (α-Gal A) enzyme deficiency, resulting in glycosphingolipid accumulation. Its clinical spectrum ranges from severe classical...Fabry Disease (FD) is a rare lysosomal storage disorder characterized by α-galactosidase A (α-Gal A) enzyme deficiency, resulting in glycosphingolipid accumulation. Its clinical spectrum ranges from severe classical to milder nonclassical or late-onset phenotypes. Renal involvement, termed Fabry Nephropathy (FN), can vary from mild proteinuria to kidney failure. FN diagnosis, especially in nonclassical cases with a genetic Variant of Unknown Significance (VUS) in the GLA gene, poses challenges. Measurement of plasma lyso-Gb3 levels is gaining importance in FN diagnosis, while renal biopsy with electron microscopy remains the gold standard in equivocal cases. Treatment options include Enzyme Replacement Therapy (ERT) and chaperone therapy, demanding careful candidate selection due to high treatment costs. Research has predominantly focused on classical FD, revealing modest treatment benefits. However, evidence for treating patients, especially females, with milder nonclassical or late-onset phenotypes is scarce, emphasizing the necessity for placebo-controlled clinical trials in these subgroups. Meanwhile, participation in global FD registries can improve our understanding of disease management. Case Presentation: A woman in her late sixties presented with moderate chronic kidney disease, mild proteinuria, and microscopic hematuria. Her family history included a prevalence of renal, cardiac and cerebrovascular diseases. Kidney biopsy revealed characteristic myelin figures and zebra bodies in podocytes, strongly suggestive of FN. Genetic analysis identified a VUS in the GLA gene (c.655A > C, p.Ile219Leu), introducing diagnostic uncertainty. Further investigations revealed severe cardiac involvement. Considering the recurring difficulty presented by the finding of a VUS in the GLA gene during FN assessments, along with the uncertainty regarding the need for treatment in nonclassical or late-onset FD phenotypes, especially in women, this case becomes a central focus for a thorough review of the literature. This review aims to propose a practical algorithm that integrates clinical, biochemical, and genetic markers for FN screening and diagnosis. Additionally, it explores treatment benefits in nonclassical or late-onset FD phenotypes, with a focus on female patients.展开更多
BACKGROUND The pathophysiology of Fabry disease(FD)-induced progressive vital organ damage is irreversible.Disease progression can be delayed using enzyme replacement therapy(ERT).In patients with classic FD,sporadic ...BACKGROUND The pathophysiology of Fabry disease(FD)-induced progressive vital organ damage is irreversible.Disease progression can be delayed using enzyme replacement therapy(ERT).In patients with classic FD,sporadic accumulation of globotriaosylceramide(GL-3)in the heart and kidney begins in utero;however,until childhood,GL-3 accumulation is mild and reversible and can be restored by ERT.The current consensus is that ERT initiation during early childhood is paramount.Nonetheless,complete recovery of organs in patients with advanced FD is challenging.CASE SUMMARY Two related male patients,an uncle(patient 1)and nephew(patient 2),presented with classic FD.Both patients were treated by us.Patient 1 was in his 50s,and ERT was initiated following end-organ damage;this was subsequently ineffective.He developed cerebral infarction and died of sudden cardiac arrest.Patient 2 was in his mid-30s,and ERT was initiated when the patient was diagnosed with FD,during which the damage to vital organs was not overtly apparent.Although he had left ventricular hypertrophy at the beginning of this treatment,the degree of hypertrophy progression was limited to a minimal range after>18 years of ERT.CONCLUSION We obtained discouraging ERT outcomes for older patients but encouraging outcomes for younger adults with classic FD.展开更多
基金Project supported by the National Natural Science Foundation of China (Grant Nos.12074049 and 12347101)。
文摘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.
基金Project supported by the National Natural Science Foundation of China (Grant No.U19A2044)the National Natural Science Foundation of China (Grant No.41975037)the Key Technologies Research and Development Program of Anhui Province (Grant No.202004i07020013)。
文摘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.
文摘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. Despite the advances in treatment, accessibility remains an issue. More research is needed to deepen our understanding of FD and to improve therapeutic strategies.
文摘Fabry Disease (FD) is a rare lysosomal storage disorder characterized by α-galactosidase A (α-Gal A) enzyme deficiency, resulting in glycosphingolipid accumulation. Its clinical spectrum ranges from severe classical to milder nonclassical or late-onset phenotypes. Renal involvement, termed Fabry Nephropathy (FN), can vary from mild proteinuria to kidney failure. FN diagnosis, especially in nonclassical cases with a genetic Variant of Unknown Significance (VUS) in the GLA gene, poses challenges. Measurement of plasma lyso-Gb3 levels is gaining importance in FN diagnosis, while renal biopsy with electron microscopy remains the gold standard in equivocal cases. Treatment options include Enzyme Replacement Therapy (ERT) and chaperone therapy, demanding careful candidate selection due to high treatment costs. Research has predominantly focused on classical FD, revealing modest treatment benefits. However, evidence for treating patients, especially females, with milder nonclassical or late-onset phenotypes is scarce, emphasizing the necessity for placebo-controlled clinical trials in these subgroups. Meanwhile, participation in global FD registries can improve our understanding of disease management. Case Presentation: A woman in her late sixties presented with moderate chronic kidney disease, mild proteinuria, and microscopic hematuria. Her family history included a prevalence of renal, cardiac and cerebrovascular diseases. Kidney biopsy revealed characteristic myelin figures and zebra bodies in podocytes, strongly suggestive of FN. Genetic analysis identified a VUS in the GLA gene (c.655A > C, p.Ile219Leu), introducing diagnostic uncertainty. Further investigations revealed severe cardiac involvement. Considering the recurring difficulty presented by the finding of a VUS in the GLA gene during FN assessments, along with the uncertainty regarding the need for treatment in nonclassical or late-onset FD phenotypes, especially in women, this case becomes a central focus for a thorough review of the literature. This review aims to propose a practical algorithm that integrates clinical, biochemical, and genetic markers for FN screening and diagnosis. Additionally, it explores treatment benefits in nonclassical or late-onset FD phenotypes, with a focus on female patients.
基金Supported by the Red Cross Hospital Research and Training Fund,Fukushima R.C.Hosp.No.57.
文摘BACKGROUND The pathophysiology of Fabry disease(FD)-induced progressive vital organ damage is irreversible.Disease progression can be delayed using enzyme replacement therapy(ERT).In patients with classic FD,sporadic accumulation of globotriaosylceramide(GL-3)in the heart and kidney begins in utero;however,until childhood,GL-3 accumulation is mild and reversible and can be restored by ERT.The current consensus is that ERT initiation during early childhood is paramount.Nonetheless,complete recovery of organs in patients with advanced FD is challenging.CASE SUMMARY Two related male patients,an uncle(patient 1)and nephew(patient 2),presented with classic FD.Both patients were treated by us.Patient 1 was in his 50s,and ERT was initiated following end-organ damage;this was subsequently ineffective.He developed cerebral infarction and died of sudden cardiac arrest.Patient 2 was in his mid-30s,and ERT was initiated when the patient was diagnosed with FD,during which the damage to vital organs was not overtly apparent.Although he had left ventricular hypertrophy at the beginning of this treatment,the degree of hypertrophy progression was limited to a minimal range after>18 years of ERT.CONCLUSION We obtained discouraging ERT outcomes for older patients but encouraging outcomes for younger adults with classic FD.
