Glycosaminoglycans in mucopolysaccharidoses and other disorders.

Glycosaminoglycans (GAGs) are sulfated polysaccharides comprising repeating disaccharides, uronic acid (or galactose) and hexosamines, including chondroitin sulfate, dermatan sulfate, heparan sulfate, and keratan sulfate. Hyaluronan is an exception in the GAG family because it is a non-sulfated polysaccharide. Lysosomal enzymes are crucial for the stepwise degradation of GAGs to provide a normal function of tissues and extracellular matrix (ECM). The deficiency of one or more lysosomal enzyme(s) results in the accumulation of undegraded GAGs, causing cell, tissue, and organ dysfunction. Accumulation of GAGs in various tissues and ECM results in secretion into the circulation and then excretion in urine. GAGs are biomarkers of certain metabolic disorders, such as mucopolysaccharidoses (MPS) and mucolipidoses. GAGs are also elevated in patients with various conditions such as respiratory and renal disorders, fatty acid metabolism disorders, viral infections, vomiting disorders, liver disorders, epilepsy, hypoglycemia, myopathy, developmental disorders, hyperCKemia, heart disease, acidosis, and encephalopathy. MPS are a group of inherited metabolic diseases caused by the deficiency of enzymes required to degrade GAGs in the lysosome. Eight types of MPS are categorized based on lack or defect in one of twelve specific lysosomal enzymes and are described as MPS I through MPS X (excluding MPS V and VIII). Clinical features vary with the type of MPS and clinical severity of the disease. This chapter addresses the historical overview, synthesis, degradation, distribution, biological role, and method for measurement of GAGs.

Stearic acid nanoparticles increase acyclovir absorption by oral epithelial cells.

OBJECTIVE: Acyclovir (ACY) is used to treat oral viral herpes but has low solubility and bioavailability. Stearic acid (SA) is lipophilic and can be combined with drugs. Therefore, this study aimed to characterize the properties of SA nanoparticles in increasing the cellular uptake of ACY by oral epithelial cells. The hypothesis was that SA nanoparticles increase sustained ACY release, are stable, and increase drug uptake. METHODS: The production parameters (duration and amplitude of sonication) were optimized to produce solid lipid nanoparticles (SLN) of SA-containing ACY. Particle stability was characterized under different storage conditions (4 °C and 37 °C for 1, 15, and 45 days). SLN were further characterized for their pharmacokinetic profile, cytotoxicity, in vitro permeability, and ability to modulate gene expression and promote ACY uptake by oral epithelial cells. RESULTS: Pharmacokinetic studies revealed sustained and diffusional release of ACY from the SLN, with an initial burst release of 15 min. After 45 d of storage, SLN kept at both 4 °C and 37 °C showed a maximum release of > 90 % of the drug at 120 min. Cells treated with SLN presented a significantly higher intracellular drug content than those treated with ACY and significantly increased the genetic expression of TJP-1, OCLN, and ECAD. SIGNIFICANCE: The hypothesis was accepted as SA nanoparticles containing ACY can sustain drug delivery and enhance its absorption into epithelial cells. Therefore, SA nanoparticles are promising for improving ACY uptake in treating oral herpes and other infections caused by HSV-1.

Enhancing thermal energy storage properties of blend phase change materials using beeswax.

This study aims to use beeswax, a readily available and cost-effective organic material, as a novel phase change material (PCM) within blends of low-density polyethylene (LDPE) and styrene-b-(ethylene-co-butylene)-b-styrene (SEBS). LDPE and SEBS act as support materials to prevent beeswax leakage. The physicochemical properties of new blended phase change materials (B-PCM) were determined using an X-ray diffractometer and an infrared spectrometer, confirming the absence of a chemical reaction within the materials. A scanning electron microscope was used for microstructural analysis, indicating that the interconnection of the structure allowed better thermal conductivity. Thermal gravimetric analysis revealed enhanced thermal stability for the B-PCM when combined with SEBS, especially within its operating temperature range. Analysis of phase change temperature and latent heat with differential scanning calorimetry showed no major difference in the melting point of the various PCM blends created. During the melting/solidification process, the B-PCMs possess excellent performance as characterized by W70/P30 (112.45 J.g-1) > W70/P20/S10 (94.28 J.g-1) > W70/P10/S20 (96.21 J.g-1) of latent heat storage. Additionally, the blends tend to reduce supercooling compared to pure beeswax. During heating and cooling cycles, the B-PCM exhibited minimal leakage and degradation, especially in blends containing SEBS. In comparison to the rapid temperature drop observed during the cooling process of W70/P30, the temperature decline of W70/P30 was slower and longer, as demonstrated by infrared thermography. The addition of LDPE to the PCM reduced melting time, indicating an improvement in the thermal energy storage reaction time to the demand. According to the obtained findings, increasing the SEBS concentration in the composite increased the thermal stability of the resulting PCM blends significantly. Despite the challenges mentioned earlier, SEBS proved to be an effective encapsulating material for beeswax, whereas LDPE served well as a supporting material. Leak tests were performed to find the ideal mass ratio, and weight loss was analyzed after multiple cycles of cooling and heating at 70 °C. The morphology, thermal characteristics, and chemical composition of the beeswax/LDPE/SEBS composite were all examined. Beeswax proves to be a highly effective phase change material for storing thermal energy within LDPE/SEBS blends.

Outcomes after laser enucleation of the prostate with and without significant storage symptoms.

OBJECTIVE: To test for differences in recovery of lower urinary tract symptoms (LUTS) between patients with storage-positive vs -negative symptoms after laser enucleation of the prostate (LEP). PATIENTS AND METHODS: Consecutive storage-positive (severe storage symptoms, International Prostate Symptom Score [IPSS] storage subscore >8) vs storage-negative patients treated with LEP (November 2017-September 2022) within our tertiary-care database were identified. Mixed linear models tested for changes in IPSS and quality of life (QoL) at 1, 3 and 12 months after LEP. Multiple linear regression models tested for LUTS and QoL recovery risk factors at 1, 3 and 12 months. RESULTS: Of 291 study patients, 180 (62%) had storage-positive symptoms. There were no differences between storage-positive and -negative patients in mean adjusted total IPSS, IPSS-storage, IPSS-voiding and QoL at 12 months after LEP. In multiple linear regression models, storage-positive status was identified as a risk factor for higher IPSS at 1 month (ß coefficient 2.98, P = 0.004) and 3 months (ß coefficient 2.24, P = 0.04), as well as for more unfavourable QoL at 1 month (ß coefficient 0.74, P = 0.006) and 3 months (ß coefficient 0.73, P = 0.004) after LEP. Conversely, at 12 months there were no differences between storage-positive vs -negative patients. CONCLUSION: Storage-positive patients appear to experience similar long-term benefits from LEP compared to storage-negative patients. However, significant storage symptoms are associated with higher total IPSS and less favourable QoL at 1 and 3 months after LEP. These findings advocate for the consideration of LEP also in storage-positive cases with the need for thorough patient education especially in the initial post-LEP period.

The speed of completion of the decremental responses on repetitive nerve stimulation.

Objective: It is generally believed that the decremental response in repetitive nerve stimulation (RNS) stabilizes at the fourth or fifth response. We have a preliminary impression that the decremental response approaches a plateau earlier in proximal muscles than in distal muscles. We investigated the speed of the completion of the decremental response in different muscles. Methods: The "decrement completion ratio (DCR)" in the second or third response (DCR2 or DCR3) was defined as the ratio of the decremental percentage of the second or third response to that of the fourth response. Patients showing more than 10% decremental response both in the abductor pollicis (APB) and deltoid muscles were retrospectively extracted from our EMG database. The DCR2 and DCR3 were compared between two muscles in patients with myasthenia gravis (MG) and amyotrophic lateral sclerosis (ALS). Results: Identified subjects consisted of 11patients with MG and 11 patients with ALS. Multiple regression analysis revealed that only the difference of muscle influenced on DCR2 and DCR3, with no contribution from the different disorder (MG or ALS) or the initial amplitude of the compound muscle action potential (CMAP). Both DCR2 and DCR3 were significantly higher in deltoid than in APB. In ALS, the normalized CMAP amplitude was not different between APB and deltoid whereas the decremental percentage was significantly higher in deltoid, suggesting a lower safety factor of the neuromuscular transmission in proximal muscles. Conclusions: The decremental response completed more rapidly in deltoid than in APB which may be related to the lower safety factor also documented by this study. Significance: Unexpected early completion of the decrement such as at the second response in RNS is not a technical error but may be an extreme of the rapid completion in deltoid, a proximal muscle.

Study of aging mechanisms in LiFePO4 batteries with various SOC levels using the zero-sum pulse method.

Investigating the correlation between aging mechanisms and state of charge (SOC) can optimize cycling conditions and prolong the life cycle of lithium-ion batteries (LIBs). A long-term cycle between a certain SOC range is usually employed to study this correlation. However, this method necessitates a lengthy period, running from months to years, prolonging the research duration significantly. The aging mechanisms obtained through this method are a result of the coupling of various SOC levels; the aging mechanisms at a specific SOC level are not accurately decoupled and analyzable. The proposed Zero-sum pulse method, using symmetrical pulses with small SOC amplitude variations on SOC, can explore aging mechanisms of LIBs at a specific SOC level and reduce the time to less than a week, which significantly expedite the research process. The aging mechanisms at 30%, 50%, 70%, and 90% SOC levels are explored to verify the accuracy and timeliness of this method.

Sestrin2 drives ER-phagy in response to protein misfolding.

Protein biogenesis within the endoplasmic reticulum (ER) is crucial for organismal function. Errors during protein folding necessitate the removal of faulty products. ER-associated protein degradation and ER-phagy target misfolded proteins for proteasomal and lysosomal degradation. The mechanisms initiating ER-phagy in response to ER proteostasis defects are not well understood. By studying mouse primary cells and patient samples as a model of ER storage disorders (ERSDs), we show that accumulation of faulty products within the ER triggers a response involving SESTRIN2, a nutrient sensor controlling mTORC1 signaling. SESTRIN2 induction by XBP1 inhibits mTORC1's phosphorylation of TFEB/TFE3, allowing these transcription factors to enter the nucleus and upregulate the ER-phagy receptor FAM134B along with lysosomal genes. This response promotes ER-phagy of misfolded proteins via FAM134B-Calnexin complex. Pharmacological induction of FAM134B improves clearance of misfolded proteins in ERSDs. Our study identifies the interplay between nutrient signaling and ER quality control, suggesting therapeutic strategies for ERSDs.

Effects of red blood cell transfusion on patients undergoing cardiac surgery in Queensland - a retrospective cohort study.

BACKGROUND: Packed red blood cell (pRBC) transfusion is a relatively safe and mainstay treatment commonly used in cardiac surgical patients. However, there is limited evidence on clinical effects of transfusing blood nearing end-of shelf life that has undergone biochemical changes during storage. OBJECTIVE: To investigate evidence of associations between morbidity/mortality and transfusion of blood near end of shelf-life (> 35 days) in cardiac surgical patients. METHODS: Data from the Queensland Health Admitted Patient Data Collection database 2007-2013 was retrospectively analysed. Coronary artery bypass graft and valvular repair patients were included. Multivariable logistic regression was used to examine the effect of pRBC age (< 35 days vs. ≥ 35 days) on in-hospital mortality and morbidity. As secondary analysis, outcomes associated with the number of pRBC units transfused (≤ 4 units vs. ≥ 5 units) were also assessed. RESULTS: A total of 4514 cardiac surgery patients received pRBC transfusion. Of these, 292 (6.5%) received pRBCs ≥ 35 days. No difference in in-hospital mortality or frequency of complications was observed. Transfusion of ≥ 5 units of pRBCs compared to the ≤ 4 units was associated with higher rates of in-hospital mortality (5.6% vs. 1.3%), acute renal failure (17.6% vs. 8%), infection (10% vs. 3.4%), and acute myocardial infarction (9.2% vs. 4.3%). Infection carried an odds ratio of 1.37 between groups (CI = 0.9-2.09; p = 0.14) and stroke/neurological complications, 1.59 (CI = 0.96-2.63; p = 0.07). CONCLUSION: In cardiac surgery patients, transfusion of pRBCs closer to end of shelf-life was not shown to be associated with significantly increased mortality or morbidity. Dose-dependent differences in adverse outcomes (particularly where units transfused were > 4) were supported.

Capitalizing on the Iodometric Reaction for Energetic Aqueous Energy Storage.

Iodometric and iodimetric titrations represent a prevailing technique to determine the concentration of Cu2+ ions in aqueous solutions; However, their utilization in electrochemical energy storage has been overlooked due to the poor reversibility between CuI and Cu2+ related to the shuttling effect of I3- species. In this work, we developed a 4A zeolite separator capable of suppressing the free shuttling of I3- ions, thus achieving a record-high capacity retention of 95.7% upon 600 cycles. Theoretical and experimental studies reveal that the negatively charged zeolite can effectively impede the approach and penetration of I3- ions, as a result of electrostatic interaction between them. To explore the practical potential, a hybrid cell of Zn∥I2 consisting of Cu2+ redox agent has been assembled with a discharge capacity of 356 mA h g-1. The cell affords a specific energy of 443 W h kg-1 based on I2, or 193 W h kg-1 based on both electrodes. This work offers insight on the energy utilization of the iodometric reactions and advocates a Cu2+-mediated cell design that could potentially double the capacity and energy of conventional aqueous battery systems.

Ferulic acid-arabinoxylan conjugates: Synthesis, characterization and applications in antibacterial film formation.

A novel antibacterial film based on arabinoxylan (AX) was prepared by introducing ferulic acid (FA) to AX through a laccase-catalyzed procedure. The ferulic acid-arabinoxylan conjugates (FA-AX conjugates) have been characterized. Results showed that FA was successfully grafted onto the AX chains by covalent linkages, likely through nucleophilic addition between O-Ph in the phenolic hydroxyl group of FA, or through Michael addition via O-quinone intermediates. FA-AX conjugates showed improved crystallinity, thermal stability, and rheological properties, as well as a distinct surface morphology, compared with those of native AX. Moreover, FA-AX conjugates exhibited enhanced antibacterial ability against Staphylococcus aureus, Escherichia coli, Shewanella sp., and Pseudomonas sp. Mechanistic studies revealed that the enhanced antibacterial ability was due to the penetration of bacterial membrane by the phenolic molecule and the steric effect of FA-AX conjugates. The study demonstrates that the laccase-induced grafting method was effective in producing FA-AX conjugates; we have demonstrated its antibacterial ability and great potential in prolonging the shelf life of fresh seafood products.

Maintaining quality of postharvest green pepper fruit using melatonin by regulating membrane lipid metabolism and enhancing antioxidant capacity.

Green pepper quality often deteriorates during storage because of membrane lipid damage and oxidative stress. This study investigated the effects of exogenous melatonin (MT) on green pepper storage quality, membrane lipids, and antioxidant metabolism. The results showed that MT increased the activities of superoxide dismutase, catalase, ascorbate peroxidase, peroxidase, monodehydroascorbate reductase, and dehydroascorbate reductase in green peppers compared to the control group. It upregulated expression of multiple enzymes; reduced accumulation of reactive oxygen species such as dehydroascorbic acid, H2O2, and O2.-; and maintained high ascorbic acid, glutathione, coenzyme II, and nicotinamide adenine dinucleotide while reducing oxidized glutathione levels. In addition, MT decreased lipoxygenase and phospholipase D activities, downregulated ReLOX and RePLD expression, and delayed the degradation of phosphatidylcholine, phosphatidylethanolamine, and oleic, linoleic, and linolenic acids in green peppers. These results suggest that MT helps to improve the chilling injury and quality of green peppers and extends shelf life.

Citric acid treatment inhibits fading of sorghum (Sorghum bicolor) by modulating the accumulation of flavonoids.

Sorghum seeds can discolor during storage. Treatment of seeds with citric acid improves sensory quality and antioxidant activity. This study compared the differences in phenotypic and antioxidant activity between citric acid-treated and water-treated sorghum seeds. The study used transcriptomics and metabolomics approaches to investigate the regulatory mechanisms. The ∆a, ∆b and ∆l values of citric acid-treated sorghum seeds significantly increased after 6 months of storage. The SOD, POD and CAT enzyme activities of the citric acid-treated group were 1.94, 1.91 and 2.45 times higher than those of the control, respectively. The joint transcriptome and metabolome analysis showed that the citric acid-induced changes were mainly focused on the flavonoid biosynthetic pathway. Citric acid treatment up-regulated CHS, ANR, MYB and bHLH genes and promoted flavonoid accumulation. In conclusion, citric acid treatment promotes flavonoid accumulation, delays sorghum seed discoloration, and enhances antioxidant activity and storage life.

Spatially Resolved Light-Induced Ferroelectric Polarization in α-In2Se3/Te Heterojunctions.

Light-induced ferroelectric polarization in 2D layered ferroelectric materials holds promise in photodetectors with multilevel current and reconfigurable capabilities. However, translating this potential into practical applications for high-density optoelectronic information storage remains challenging. In this work, an α-In2Se3/Te heterojunction design that demonstrates spatially resolved, multilevel, nonvolatile photoresponsivity is presented. Using photocurrent mapping, the spatially localized light-induced poling state (LIPS) is visualized in the junction region. This localized ferroelectric polarization induced by illumination enables the heterojunction to exhibit enhanced photoresponsivity. Unlike previous reports that observe multilevel polarization enhancement in electrical resistance, the device shows nonvolatile photoresponsivity enhancement under illumination. After polarization saturation, the photocurrent increases up to 1000 times, from 10-12 to 10-9 A under the irradiation of a 520 nm laser with a power of 1.69 nW, compared to the initial state in a self-driven mode. The photodetector exhibits high detectivity of 4.6×1010 Jones, with a rise time of 27 µs and a fall time of 28 µs. Furthermore, the device's localized poling characteristics and multilevel photoresponse enable spatially multiplexed optical information storage. These results advance the understanding of LIPS in 2D ferroelectric materials, paving the way for optoelectronic information storage technologies.

Demographic but not competitive time lags can transiently amplify climate-induced changes in vegetation carbon storage.

How terrestrial ecosystems will accumulate carbon as the climate continues to change is a major source of uncertainty in projections of future climate. Under growth-stimulating environmental change, time lags inherent in population and community dynamic processes have been posed to dampen, or alternatively amplify, short-term carbon gain in terrestrial vegetation, but these outcomes can be difficult to predict. To theoretically frame this problem, we developed a simple model of vegetation dynamics that identifies the stage-structured demographic and competitive processes that could govern the timescales of carbon storage and loss. We show that demographic lags associated with growth-stimulating environmental change can allow a rapid increase in population-level carbon storage that is lost back to the atmosphere in later years. However, this transient carbon storage only emerges when environmental change increases the transition of adult individuals into a larger size class that suffers markedly higher mortality. Otherwise, demographic lags simply slow carbon accumulation. Counterintuitively, an analogous tradeoff between maximum adult size and survivorship in two-species models, coupled with environmental change-driven replacement, does not generate the transient carbon gain seen in the single-species models. Instead lags in competitive replacement slow the approach to the eventual carbon trajectory. Together, our results suggest that time lags inherent in demographic and compositional turnover tend to slow carbon accumulation in systems responding to growth-stimulating environmental change. Only under specific conditions will lagged demographic processes in such systems drive transient carbon accumulation, conditions that investigators can examine in nature to help project future carbon trajectories.

Surfactant-Driven Dynamic Changes in Rheology of Activated Carbon Slurry Electrodes.

Carbon black slurry electrodes are an effective means to improve flow battery performance by increasing the active surface area necessary for electrochemical reactions with a cost-effective material. Current challenges with this specific flow battery chemistry include the stability and flowability of the carbon black suspensions, especially in response to formulation choices. Advancing the manufacturing, operation, and performance of these redox flow batteries requires a deeper understanding of how slurry formulation impacts its rheological profile and ultimately battery performance. In response to this need, the linear and nonlinear rheological responses of activated carbon (AC) based slurry electrode materials used in an all-iron flow battery in the presence of a nonionic surfactant (Triton X-100) were measured. Results from these measurements show the slurry is a colloidal gel with elasticity remaining constant despite increasing surfactant concentration until α (= Csurf/CAC) < 0.65. However, at α ≥ 0.65, the slurry abruptly transitions to a fluid with no measurable yield stress. This critical surfactant concentration at which the rheological profile undergoes a dynamic change matches the concentration found previously for gel collapse of this system. Moreover, this transition is accompanied by a complete loss of electrical conductivity. From these data we conclude the site specific adsorption of surfactant molecules often used in slurry formulation has a significant and dramatic impact on the stability and flowability of these suspensions. Work presented herein demonstrates the importance of additive choices when formulating a slurry electrode.

Antioxidant and antimicrobial activities of Myrtus communis essential oils in cold-stored lactic butter.

BACKGROUND: The use of natural antioxidants and antimicrobials in dairy production can increase the variety of dairy-based products. In this study, the antioxidant and antimicrobial changes in lactic butter samples made from heat-treated creams and enriched with M. communis essential oils (EOs) were investigated. RESULTS: The best lactic butter properties were achieved by optimizing the process at 70 and 80 °C. M. communis EOs decreased lipid oxidation and spoilage microorganism growth in lactic butter during cold storage. M. communis EOs have antioxidant and antimicrobial activity in lactic butter equal to that of ascorbyl palmitate. α-Pinene, p-cymene, limonene, 3-carene, 1,8-cineol, ß-linalool, α-terpineol and myretenol are the major contributors to the antioxidant and antimicrobial activities of M. communis EOs. They exhibit antioxidant activity by neutralizing free radicals by donating hydrogen or acting as termination enhancers, and antimicrobial activity by disruption of cell membranes, which may result in the leakage of macromolecules or the loss of essential metabolites, ultimately leading to cell death during the storage of lactic butter samples. CONCLUSION: The addition of M. communis EOs improves lactic butter stability equal to that of ascorbyl palmitate, and may be applied as a natural and effective preservative to maintain butter from lipid oxidation and microbial spoilage and enhance its safety. PRACTICAL APPLICATIONS: The growing recognition of the health benefits of natural antioxidants, as opposed to synthetic ones, has led to the development of new applications for natural antioxidants. In this regard, M. communis L. EOs can be used to enhance the shelf stability of cold-stored lactic butter. © 2024 The Author(s). Journal of the Science of Food and Agriculture published by John Wiley & Sons Ltd on behalf of Society of Chemical Industry.

Bilayered Vanadium Oxides Pillared by Strontium Ions and Water Molecules as Stable Cathodes for Rechargeable Zn-Metal Batteries.

Vanadium-based compounds have attracted significant attention as cathodes for aqueous zinc metal batteries (AZMBs) because of their remarkable advantages in specific capacities. However, their low diffusion coefficient for zinc ions and structural collapse problems lead to poor rate capability and cycle stability. In this work, bilayered Sr0.25V2O5·0.8H2O (SVOH) nanowires are first reported as a highly stable cathode material for rechargeable AZMBs. The synergistic pillaring effect of strontium ions and water molecules improves the structural stability and ion transport dynamics of vanadium-based compounds. Consequently, the SVOH cathode exhibits a high capacity of 325.6 mAh g-1 at 50 mA g-1, with a capacity retention rate of 72.6% relative to the maximum specific capacity at 3.0 A g-1 after 3000 cycles. Significantly, a unique single-nanowire device is utilized to demonstrate the excellent conductivity of the SVOH cathode directly. Additionally, the energy storage mechanism of zinc insertion and extraction is investigated using a variety of advanced in situ and ex situ analysis techniques. This method of ion intercalation to improve electrochemical performance will further promote the development of AZMBs in large-scale applications.

Design Insights for Industrial CO2 Capture, Transport, and Storage Systems.

We present methods and insights for the design of CO2 capture, transport, and storage systems for industrial facilities with a case study focus on Louisiana. Our analytical framework includes (1) evaluating the scale and concentration of capturable CO2 emissions at individual facilities for the purpose of estimating the cost of CO2 capture retrofits that utilize various energy supply sources to meet parasitic demands; (2) screening to identify potential CO2 storage sites and estimate their capacities, injectivities, and costs; and (3) designing cost-minimized trucking or pipeline infrastructure connecting CO2 capture plants with storage sites, considering existing land uses, demographics, and a variety of social and environmental justice factors. Estimated levelized costs of capture at Louisiana's 190 industrial facilities range from below $50/tCO2 to above $500/tCO2, depending on facility-specific features. We identified 98 potential storage sites with storage costs ranging from $8 to $17/tCO2. We find that in most situations, pipelines are the least-costly mode of CO2 transport. When industrial facilities in a region share pipelines, aggregate pipeline mileage and average transport costs are dramatically lower than without sharing. Shared pipeline networks designed to avoid disadvantaged communities require right-of-way areas compared to those for networks that transect such communities, but result in 25% higher average per-tonne transport cost.

[What is confirmed in the treatment of Fabry's disease?] / Was ist gesichert in der Therapie von Morbus Fabry?

Fabry's disease is a rare X chromosome-linked inherited lysosomal storage disease characterized by insufficient metabolism of the substrate globotriaosylceramide (Gb3) due to reduced alpha-galactosidase A (AGAL) activity. Lysosomal Gb3 accumulation causes a multisystemic disease which, if untreated, reduces the life expectancy in females and males by around 10 and 20 years, respectively, due to progressive renal dysfunction, hypertrophic cardiomyopathy, cardiac arrhythmia and early occurrence of cerebral infarction. The diagnosis is confirmed by determining the reduced AGAL activity in leukocytes in males and molecular genetic detection of a -mutation causing the disease in females. The treatment comprises enzyme replacement therapy (ERT), agalsidase alfa, 0.2 mg/kg body weight (BW), agalsidase beta 1.0 mg/kg BW or pegunigalsidase alfa 1.0 mg/kg BW every 2 weeks i.v. or oral chaperone therapy (one capsule of migalastat 123 mg every other day) in the presence of amenable mutations. This article summarizes the data on the treatment of Fabry's disease and on complications in practice. The current guideline recommendations are addressed and new study results that could expand the therapeutic repertoire in the future are discussed.

Advances in Inorganic Foam Materials Fabricated Via Blowing Strategy: A Comprehensive Review.

Two-dimensional (2D) materials with excellent properties and widespread applications have been explosively investigated. However, their conventional synthetic methods exhibit concerns of limited scalability, complex purification process, and incompetence of prohibiting their restacking. The blowing strategy, characterized by gas-template, low-cost, and high-efficiency, presents a valuable avenue for the synthesis of 2D-based foam materials and thereby addresses these constraints. Whereas, its comprehensive introduction has been rarely outlined so far. This review commences with a synopsis of the blowing strategy, elucidating its development history, the statics and kinetics of the blowing process, and the choice of precursor and foaming agents. Thereafter, we dwell at length on across-the-board foams enabled by the blowing route, like BxCyNz foams, carbon foams, and diverse composite foams consisting of carbon and metal compounds. Following that, a wide-ranging evaluation of the functionality of the foam products in fields such as energy storage, electrocatalysis, adsorption, etc. is discussed, revealing their distinctive strength originated from the foam structure. Finally, after concluding the current progress, we provide some personal discussions on the existing challenges and future research priorities in this rapidly developing method.