Fabry

BACKGROUND: Fabry disease is a progressive, X chromosome-linked lysosomal storage disorder with multiple organ dysfunction. Due to the absence or reduced activity of alpha-galactosidase A (AGAL), glycosphingolipids, primarily globotriaosyl-ceramide (Gb3), concentrate in cells. In heterozygous women, symptomatology is heterogenous and currently routinely used fluorometry-based assays measuring mean activity mostly fail to uncover AGAL dysfunction. The aim was the development of a flow cytometry assay to measure AGAL activity in individual cells...

Fabry Disease (FD) is one of the most prevalent lysosomal storage disorders, resulting from mutations in the GLA gene located on the X chromosome. This genetic mutation triggers glo-botriaosylceramide (Gb-3) buildup within lysosomes, ultimately impairing cellular functions. Given the role of lysosomes in immune cell physiology, FD has been suggested to have a profound impact on immunological responses. During the past years, research has been focusing on this topic, and pooled evidence strengthens the hypothesis that Gb-3 accumulation potentiates the production of pro-inflammatory mediators, revealing the existence of an acute inflammatory process in FD that possibly develops to a chronic state due to stimulus persistency...

The process of SARS-CoV-2 infection, responsible for the COVID-19 pandemic, is carried out through different steps, with the interaction between ACE2 and Spike protein (S) being crucial. Besides of that, the acidic environment of endosomes seems to play a relevant role in the virus uptake into cells and its intracellular replication. Patients affected by two rare genetic tubulopathies, Gitelman's and Bartter's Syndromes, and a rare genetic metabolic disease, Fabry Disease, have shown intrinsic protection from SARS-CoV-2 infection and COVID-19 on account of specific intrinsic features that interfere with the virus uptake into cells and its intracellular replication, which will be reported and discussed in this paper, providing interesting insights for present and future research...

Vulvovaginal candidiasis, mostly caused by Candida albicans, remains a prevalent concern in women's health. Annona muricata L. (Annonaceae), a plant native from Brazil, is well-known for its therapeutic potential, including antitumor, anti-inflammatory, and antimicrobial properties. This study presents an innovative hydrogel formulation containing the ethanolic extract from A. muricata leaves designed to control C. albicans in an in vivo model of vulvovaginal candidiasis. Here, we report the development, thermal, physicochemical and rheological characterization of a Carbopol®-based hydrogel containing A...

BACKGROUND: While it is well recognized that an automated insulin delivery (AID) algorithm should adapt to changes in physiology, it is less understood that the individual would also have to adapt to the AID system. The adaptive bio-behavioral control (ABC) method presented here attempts to compensate for this deficiency by including AID into an information cloud-based ecosystem. METHODS: The Web Information Tool (WIT) implements the ABC concept via: (1) A Physiological Adaptation Module (PAM) that tracks metabolic changes and adapts AID parameters accordingly, and (2) a Behavioral Adaptation Module (BAM) that provides information feedback...

This study introduces a miniaturized fiber-optic Fabry-Perot (FP) interferometric biosensor, distinctively engineered for cost-effective, rapid, and quantitative DNA sequence detection. By leveraging the interference patterns generated within a Fabry-Perot microcavity, our sensor precisely monitors DNA hybridization events in real-time. We have verified the sensor's biofunctionalization via fluorescent labeling and have extensively validated its performance through numerous hybridization and regeneration cycles with 1 μM single-stranded DNA (ssDNA) solutions...

Ultrafast short-wavelength infrared (SWIR) photodetection is of great interest for emerging automated vision and spatial mapping technologies. Colloidal quantum dots (QDs) stand out for SWIR photodetection compared to epitaxial (In,Ga)As or (Hg,Cd)Te semiconductors by their combining a size-tunable bandgap and a suitability for cost-effective, solution-based processing. However, achieving ultrafast, ns-level response time has remained an outstanding challenge for QD-based SWIR photodiodes (QDPDs). Here, we report on record 4 ns response time in PbS-based QDPDs that operate at SWIR wavelengths, a result reaching the requirement of SWIR LiDAR based on colloidal QDs...

Casimir torque, a rotational motion driven by zero-point energy minimization, is a problem that attracts notable research interest. Recently, it has been realized using liquid crystal phases and natural anisotropic substrates. However, for natural materials, substantial torque occurs only at van der Waals distances of ~10 nm. Here, we use Casimir self-assembly with triangular gold nanostructures for rotational self-alignment at truly Casimir distances (100 to 200 nm separation). The interplay of repulsive electrostatic and attractive Casimir potentials forms a stable quantum trap, giving rise to a tunable Fabry-Pérot microcavity...

BACKGROUND AND OBJECTIVES: Public health concerns surrounding social isolation and loneliness heightened during the COVID-19 pandemic, as infection prevention measures led to increased feelings of loneliness and depression.Our objective was to evaluate the implementation of the HOW-R-U? program, during the pandemic (March 2020-December 2021). HOW-R-U? is a weekly volunteer-delivered telephone program designed to facilitate social connection and ease feelings of social isolation, loneliness and depression in older people...

In this paper, a double-layer patterned graphene-based frequency-selective absorber (DGFSA) is proposed as a means of reducing an antenna's radar cross-section (RCS) while simultaneously increasing its gain. The antenna consists of a patch antenna with Multi-Graphene Frequency Selective Absorber (MGFSA) mounted on top. The DGFSA consists of double-layer patterned graphene and a band-pass frequency selective surface (FSS). Two patterned graphene lossy layers with different square resistances are used, which broaden the electromagnetic (EM) wave absorption bandwidth of the DGFSA, thus greatly reducing the out-band monostatic RCSs of the patch antenna...

Inherited metabolic diseases (IMD) are caused by the functional defect of an enzyme, of genetic origin, that provokes a blockage in a specific metabolic pathway. Individually, IMD are considered rare diseases, with an incidence of less than 1/100,000 births. The symptoms are usually multisystemic, but frequently include cardiac manifestations. Of these, the most common are cardiomyopathies, especially hypertrophic cardiomyopathy. In addition, they can cause dilated or restrictive cardiomyopathy and non-compacted cardiomyopathy of the left ventricle...

Ionization phenomena have been widely studied for decades. With the advent of cavity technology, the question arises how quantum light affects molecular ionization. As the ionization spectrum is recorded from the neutral ground state, it is usually possible to choose cavities which exert negligible effect on the neutral ground state, but have significant impact on the ion and the ionization spectrum. Particularly interesting are cases where the ion exhibits conical intersections between close-lying electronic states, which gives rise to substantial nonadiabatic effects...

This paper demonstrates an optical technique to measure magnetostrictive strain in a cryogenic environment using a Fabry-Pérot resonator spaced by crystal samples. Optical measurement techniques are calibration-free and highly sensitive. This technique was used to measure the magnetostrictive strain of neodymium gallate at a temperature of 49 mK to be λ = 1.3 × 10-5 at 3 T, with a sensitivity of 3.0 × 10-8. We highlight the interesting properties of the crystal's magnetic ordering...

Patients with Fabry disease suffer from chronic debilitating pain and peripheral sensory neuropathy with minimal treatment options, but the cellular drivers of this pain are unknown. Here, we propose a mechanism we believe to be novel in which altered signaling between Schwann cells and sensory neurons underlies the peripheral sensory nerve dysfunction we observed in a genetic rat model of Fabry disease. Using in vivo and in vitro electrophysiological recordings, we demonstrated that Fabry rat sensory neurons exhibited pronounced hyperexcitability...

The pathophysiology of Fabry nephropathy (FN) is induced by galactosidase A deficiency with a chronic exposure of glycolipids to every lineage of renal cells. Tissue damage is attributed to the activation of molecular pathways, resulting in tissue fibrosis and chronic kidney disease. Podocytes have been the primary focus in clinical pathophysiological research because of the striking accumulation of large glycolipid deposits observable in histology. Yet, the tubular interstitium makes up a large portion of the whole organ, and therefore, its role must be further considered in pathogenic processes...

A 41-year-old man with resting angina was diagnosed with a coronary vasospasm and subsequently with Fabry disease exhibiting low serum α-galactosidase A activity. High computed tomography (CT)-derived extracellular volume was detected in the apical inferior wall of the left ventricle suggesting myocardial fibrosis, potentially from vasospasm-related ischemia and/or microvascular dysfunction.

Severe degenerative mitral regurgitation (DMR) is one cardiac manifestation of the multiorgan metabolic enzyme disorder Anderson-Fabry Disease (AFD). Although DMR is normally managed surgically, many patients with AFD are unsuitable for this. We present the first case of mitral transcatheter edge-to-edge repair in a patient with AFD.

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We theoretically describe and experimentally demonstrate a graphene-integrated metasurface structure that enables electrically-tunable directional control of thermal emission. This device consists of a dielectric spacer that acts as a Fabry-Perot resonator supporting long-range delocalized modes bounded on one side by an electrostatically tunable metal-graphene metasurface. By varying the Fermi level of the graphene, the accumulated phase of the Fabry-Perot mode is shifted, which changes the direction of absorption and emission at a fixed frequency...

Supramolecular polymers display interesting optoelectronic properties and, thus, deploy multiple applications based on their molecular arrangement. However, controlling supramolecular interactions to achieve a desirable molecular organization is not straightforward. Over the past decade, light-matter strong coupling has emerged as a new tool for modifying chemical and material properties. This novel approach has also been shown to alter the morphology of supramolecular organization by coupling the vibrational bands of solute and solvent to the optical modes of a Fabry-Perot cavity (vibrational strong coupling, VSC)...