To the Editor:Fabry disease (FD)is a recessive X-linked hereditary disease.The onset age of the disease is in children and adolescents mostly.The average time from the onset of symptoms to the definite diagnosis needs...To the Editor:Fabry disease (FD)is a recessive X-linked hereditary disease.The onset age of the disease is in children and adolescents mostly.The average time from the onset of symptoms to the definite diagnosis needs 13.7 years in male patients and 16.3 years in female patients.FD happens rarely and it is easy to cause diagnosis and treatment delay.Here,we report a case of FD in a 27-year-old man who developed clinical symptoms with acute cerebral infarction onset to improve doctors' understanding of FD.展开更多
A sensitive polymer diaphragm based fiber Fabry-Perot （F-P） sensor for aeroacoustic wave measurement is presented. A novel polymer material poly （phthalazinone ether sulfone ketone） （PPESK） diaphragm is used as ...A sensitive polymer diaphragm based fiber Fabry-Perot （F-P） sensor for aeroacoustic wave measurement is presented. A novel polymer material poly （phthalazinone ether sulfone ketone） （PPESK） diaphragm is used as the acoustic sensing element. The effective dimensions of the diaphragm are 4 mm in diameter and 6 μm in thickness. Owing to the good mechanical and optical features of the diaphragm and application of the interferometric/intensity demodulation, a system sensitivity of 31 mV/Pa is achieved in the frequency range of 0.1-12.7 kHz, and a signal-to-noise ratio （SNR） of 29 dB at 1 kHz is obtained. The linear response of the sensor is from 0.35 to 2.82 Pa, corresponding to 85 103 dB sound pressure level （SPL） （re： 20 μPa）. The sensor has the potential to be used as a universal and low-cost optical microphone.展开更多
Fiber Bragg grating Fabry-Perot (FBG F-P) cavity is used as the sensing model to measure the refractive index of the liquid solution. The cladding of the fiber, which is used as the F-P cavity, is etched by HF solutio...Fiber Bragg grating Fabry-Perot (FBG F-P) cavity is used as the sensing model to measure the refractive index of the liquid solution. The cladding of the fiber, which is used as the F-P cavity, is etched by HF solution to enhance the sensitivity to the external refractive index. The experimental results show that with the concentration change of the external solution, the effective refractive index of etched fiber will change, thus the spectra of FBG F-P cavity will appear a spilt point. The relationship be...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. De展开更多
We report an extrinsic Fabry Perot interferometer-fiber Bragg grating （EFPI-FBG） hybrid sensor in this letter. The interferometric cavity of the proposed hybrid sensor is composed of a glass capillary tube, a sectio...We report an extrinsic Fabry Perot interferometer-fiber Bragg grating （EFPI-FBG） hybrid sensor in this letter. The interferometric cavity of the proposed hybrid sensor is composed of a glass capillary tube, a section of single-mode fiber, and a section of single-mode metal fiber with one FBG. The FBG processed by high-temperature annealing is used to measure temperature, whereas the fiber EFPI is adopted for strain measurement. One of the two aligned fibers is free along the axial direction, which is different from the traditional structure that both the fibers are fixed to glass capillary tube. Experimental results show that the sensor can measure high temperature and large strain simultaneously. The measuring range of temperature and strain for the hybrid sensor is up to 500℃ and 10,000μs, respectively. Effective temperature compensation of the hybrid sensor is realized, too.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 rev展开更多
Reflectors are an essential component for on-chip integrated photonics. Here, we propose a new method for designing reflectors on the prevalent thin-film-on-insulator platform by using genetic-algorithm optimization.I...Reflectors are an essential component for on-chip integrated photonics. Here, we propose a new method for designing reflectors on the prevalent thin-film-on-insulator platform by using genetic-algorithm optimization.In simulation, the designed reflector with a footprint of only 2.16 μm× 2.16 μm can achieve ~97% reflectivity and 1 dB bandwidth as wide as 220 nm. The structure is composed of randomly distributed pixels and is highly robust against the inevitable corner rounding effect in device fabrication. In experiment, we fabricated on-chip Fabry–Perot(FP) cavities constructed from optimized reflectors. Those FP cavities have intrinsic quality factors of>2000 with the highest value beyond 4000 in a spectral width of 200 nm. The reflectivity fitted from the FP cavity resonances is >85% in the entire wavelength range of 1440–1640 nm and is beyond 95% at some wavelengths.The fabrication processes are CMOS compatible and require only one step of lithography and etch. The devices can be used as a standard module in integrated photonic circuitry for wide applications in on-chip semiconductorlaser structures and optical signal processing.展开更多
The effect of quantum well number on the quantum efficiency and temperature characteristics of In- GaN/GaN laser diodes （LDs） is determined and investigated. The 3-nm-thick In0.13Ca0.87N wells and two 6-am-thick GaN...The effect of quantum well number on the quantum efficiency and temperature characteristics of In- GaN/GaN laser diodes （LDs） is determined and investigated. The 3-nm-thick In0.13Ca0.87N wells and two 6-am-thick GaN barriers are selected as an active region for Fabry-Perot （FP） cavity waveguide edge emitting LD. The internal quantum efficiency and internal optical loss coefficient are extracted through the simulation software for single, double, and triple InGaN/GaN quantum wells. The effects of device temperature on the laser threshold current, external differential quantum efficiency （DQE）, and output wavelength are also investigated. The external quantum efficiency and characteristic temperature are improved significantly when the quantum well number is two. It is indicated that the laser structures with many quantum wells will suffer from the inhomogeneity of the carrier density within the quantum well itself which affects the LD performance.展开更多
文摘To the Editor:Fabry disease (FD)is a recessive X-linked hereditary disease.The onset age of the disease is in children and adolescents mostly.The average time from the onset of symptoms to the definite diagnosis needs 13.7 years in male patients and 16.3 years in female patients.FD happens rarely and it is easy to cause diagnosis and treatment delay.Here,we report a case of FD in a 27-year-old man who developed clinical symptoms with acute cerebral infarction onset to improve doctors' understanding of FD.
基金supported by the National Natural Science Foundation of China under Grant No.60677010
文摘A sensitive polymer diaphragm based fiber Fabry-Perot （F-P） sensor for aeroacoustic wave measurement is presented. A novel polymer material poly （phthalazinone ether sulfone ketone） （PPESK） diaphragm is used as the acoustic sensing element. The effective dimensions of the diaphragm are 4 mm in diameter and 6 μm in thickness. Owing to the good mechanical and optical features of the diaphragm and application of the interferometric/intensity demodulation, a system sensitivity of 31 mV/Pa is achieved in the frequency range of 0.1-12.7 kHz, and a signal-to-noise ratio （SNR） of 29 dB at 1 kHz is obtained. The linear response of the sensor is from 0.35 to 2.82 Pa, corresponding to 85 103 dB sound pressure level （SPL） （re： 20 μPa）. The sensor has the potential to be used as a universal and low-cost optical microphone.
基金supported by the National Nature Scien- ce Foundation of China (Grant No.60672015).
文摘Fiber Bragg grating Fabry-Perot (FBG F-P) cavity is used as the sensing model to measure the refractive index of the liquid solution. The cladding of the fiber, which is used as the F-P cavity, is etched by HF solution to enhance the sensitivity to the external refractive index. The experimental results show that with the concentration change of the external solution, the effective refractive index of etched fiber will change, thus the spectra of FBG F-P cavity will appear a spilt point. The relationship be...
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. De
基金supported by the National High Technology Research and Development Program under Grant No.2012AA041203
文摘We report an extrinsic Fabry Perot interferometer-fiber Bragg grating （EFPI-FBG） hybrid sensor in this letter. The interferometric cavity of the proposed hybrid sensor is composed of a glass capillary tube, a section of single-mode fiber, and a section of single-mode metal fiber with one FBG. The FBG processed by high-temperature annealing is used to measure temperature, whereas the fiber EFPI is adopted for strain measurement. One of the two aligned fibers is free along the axial direction, which is different from the traditional structure that both the fibers are fixed to glass capillary tube. Experimental results show that the sensor can measure high temperature and large strain simultaneously. The measuring range of temperature and strain for the hybrid sensor is up to 500℃ and 10,000μs, respectively. Effective temperature compensation of the hybrid sensor is realized, too.
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 rev
基金Hong Kong Research Grants Council Early Career Scheme(24208915)Hong Kong Research Grants Council Joint Research Scheme(N_CUHK415/15)National Natural Science Foundation of China(NSFC)
文摘Reflectors are an essential component for on-chip integrated photonics. Here, we propose a new method for designing reflectors on the prevalent thin-film-on-insulator platform by using genetic-algorithm optimization.In simulation, the designed reflector with a footprint of only 2.16 μm× 2.16 μm can achieve ~97% reflectivity and 1 dB bandwidth as wide as 220 nm. The structure is composed of randomly distributed pixels and is highly robust against the inevitable corner rounding effect in device fabrication. In experiment, we fabricated on-chip Fabry–Perot(FP) cavities constructed from optimized reflectors. Those FP cavities have intrinsic quality factors of>2000 with the highest value beyond 4000 in a spectral width of 200 nm. The reflectivity fitted from the FP cavity resonances is >85% in the entire wavelength range of 1440–1640 nm and is beyond 95% at some wavelengths.The fabrication processes are CMOS compatible and require only one step of lithography and etch. The devices can be used as a standard module in integrated photonic circuitry for wide applications in on-chip semiconductorlaser structures and optical signal processing.
基金supports from Universiti Sains Malaysia,Ministry of Science Technology and Innovation (MOSTI),Ministry of Higher Education are gratefully acknowl-edged
文摘The effect of quantum well number on the quantum efficiency and temperature characteristics of In- GaN/GaN laser diodes （LDs） is determined and investigated. The 3-nm-thick In0.13Ca0.87N wells and two 6-am-thick GaN barriers are selected as an active region for Fabry-Perot （FP） cavity waveguide edge emitting LD. The internal quantum efficiency and internal optical loss coefficient are extracted through the simulation software for single, double, and triple InGaN/GaN quantum wells. The effects of device temperature on the laser threshold current, external differential quantum efficiency （DQE）, and output wavelength are also investigated. The external quantum efficiency and characteristic temperature are improved significantly when the quantum well number is two. It is indicated that the laser structures with many quantum wells will suffer from the inhomogeneity of the carrier density within the quantum well itself which affects the LD performance.
