Nonlinear spectroscopy for Fabry disease characterization based on cardiomyocytes

: Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations lead to a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). In the presence of high clinical suspicion, a careful physical examination and specific laboratory tests are required. Finally, the diagnosis of Fabry’s disease is confirmed by the demonstration of the absence of or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females. Measurement of the biomarkers Gb3 and Lyso Gb3 in biological specimens may facilitate diagnosis. The current treatment of Anderson-Fabry disease is represented by enzyme replacement therapy (ERT) and oral pharmacological chaperone. Future treatments are based on new strategic approaches such as stem cell-based therapy, pharmacological approaches chaperones, mRNA therapy, and viral gene therapy. : This review outlines the current therapeutic approaches and emerging treatment strategies for Anderson-Fabry disease.

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Globotriaosylsphingosine (Lyso-Gb) and analogues in plasma and urine of Fabry disease patients and relation to long-term treatment in a nationwide female Danish cohort: A retrospective study of a prospective cohort

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2019.11.115 ◽

2020 ◽

Vol 129 (2) ◽

pp. S52

Author(s):

Grigorios Effraimidis ◽

Ulla Feldt-Rasmussen ◽

Åse Krogh Rasmussen ◽

Pamela Lavoie ◽

Christiane Auray-Blais

Keyword(s):

Retrospective Study ◽

Fabry Disease ◽

Prospective Cohort ◽

Term Treatment ◽

Long Term Treatment ◽

Danish Cohort

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High Field Single- to Few-Cycle THz Generation with Lithium Niobate

Photonics ◽

10.3390/photonics8060183 ◽

2021 ◽

Vol 8 (6) ◽

pp. 183

Author(s):

Xing Zhu ◽

David R. Bacon ◽

Julien Madéo ◽

Keshav M. Dani

Keyword(s):

Lithium Niobate ◽

Condensed Matter ◽

High Harmonic ◽

Nonlinear Spectroscopy ◽

Optical Rectification ◽

Phase Matching ◽

Nonlinear Phenomena ◽

Generation Efficiency ◽

Basic Principles ◽

Thz Generation

The transient terahertz (THz) pulse with high peak field has become an important tool for matter manipulation, enabling many applications such as nonlinear spectroscopy, particle acceleration, and high harmonic generation. Among the widely used THz generation techniques, optical rectification in lithium niobate (LN) has emerged as a powerful method to achieve high fields at low THz frequencies, suitable to exploring novel nonlinear phenomena in condensed matter systems. In this review, we focus on introducing single- to few-cycle THz generation in LN, including the basic principles, techniques, latest developments, and current limitations. We will first discuss the phase matching requirements of LN, which leads to Cherenkov-like radiation, and the tilted pulse front (TPF) technique. Emphasis will be put on the TPF technique, which has been shown to improve THz generation efficiency, but still has many limitations. Different geometries used to produce continuous and discrete TPF will be systematically discussed. We summarize the advantages and limitations of current techniques and future trends.

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