Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.

Fabry disease (FD, α-galactosidase A deficiency) is a rare, progressive, complex lysosomal storage disorder affecting multiple organ systems with a diverse spectrum of clinical phenotypes, particularly among female patients. Knowledge of its clinical course was still limited in 2001 when FD-specific therapies first became available and the Fabry Registry (NCT00196742; sponsor: Sanofi) was initiated as a global observational study. The Fabry Registry has now been operational for over 20 years, overseen by expert Boards of Advisors, and has collected real-world demographic and longitudinal clinical data from more than 8000 individuals with FD. Leveraging the accumulating evidence base, multidisciplinary collaborations have resulted in the creation of 32 peer-reviewed scientific publications, which have contributed to the greatly expanded knowledge on the onset and progression of FD, its clinical management, the role of sex and genetics, the outcomes of enzyme replacement therapy with agalsidase beta, and prognostic factors. We review how the Fabry Registry has evolved from its inception to become the largest global source of real-world FD patient data, and how the generated scientific evidence has helped to better inform the medical community, individuals living with FD, patient organizations, and other stakeholders. The patient-centered Fabry Registry fosters collaborative research partnerships with the overarching goal of optimizing the clinical management of patients with FD and is well positioned to add to its past achievements.

Luffa operculata seed proteins: Identification by LC-ESI-MS/MS and biotechnological potential against Candida albicans and C. krusei.

L: operculata is a plant commonly found in the North and Northeast of Brazil. Although the regional population knows its medicinal potential, there are few scientific studies about its antimicrobial potential. Thus, this study aimed to characterize the proteins from L. operculata seeds extracted using different solutions and evaluate their antimicrobial potentials. The protein extracts obtained with NaCl and sodium acetate buffer presented the best inhibitory activities against Candida albicans and C. krusei. The study of the mechanism of action revealed proteins from L. operculata seeds induced pore formation on the membrane and ROS overaccumulation. Scanning Electron Microscopy images also showed severe morphological changes in Candida albicans and C. krusei. Proteins from L.operculata seeds did not show antibacterial activity. The enzymatic assays revealed the presence of proteolytic enzymes, serine and cysteine protease inhibitors, and chitinases in both protein extracts. Proteomic analysis by LC-ESI-MS/MS identified 57 proteins related to many biological processes, such as defense to (a)biotic stress, energetic metabolism, protein folding, and nucleotide metabolism. In conclusion, the L. operculata seed proteins have biotechnological potential against the human pathogenic yeasts Candida albicans and C. krusei.

Wearables in Swimming for Real-Time Feedback: A Systematic Review.

Nowadays, wearables are a must-have tool for athletes and coaches. Wearables can provide real-time feedback to athletes on their athletic performance and other training details as training load, for example. The aim of this study was to systematically review studies that assessed the accuracy of wearables providing real-time feedback in swimming. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were selected to identify relevant studies. After screening, 283 articles were analyzed and 18 related to the assessment of the accuracy of wearables providing real-time feedback in swimming were retained for qualitative synthesis. The quality index was 12.44 ± 2.71 in a range from 0 (lowest quality) to 16 (highest quality). Most articles assessed in-house built (n = 15; 83.3%) wearables in front-crawl stroke (n = 8; 44.4%), eleven articles (61.1%) analyzed the accuracy of measuring swimming kinematics, eight (44.4%) were placed on the lower back, and seven were placed on the head (38.9%). A limited number of studies analyzed wearables that are commercially available (n = 3, 16.7%). Eleven articles (61.1%) reported on the accuracy, measurement error, or consistency. From those eleven, nine (81.8%) noted that wearables are accurate.

Using Statistical Parametric Mapping to Compare the Propulsion of Age-Group Swimmers in Front Crawl Acquired with the Aquanex System.

Understanding the difference in each upper limb between age groups can provide deeper insights into swimmers' propulsion. This study aimed to: (1) compare swimming velocity and a set of kinematical variables between junior and juvenile swimmers and (2) compare the propulsion outputs through discrete and continuous analyses (Statistical Parametric Mapping­SPM) between junior and juvenile swimmers for each upper limb (i.e., dominant and non-dominant). The sample was composed of 22 male swimmers (12 juniors with 16.35 ± 0.74 years; 10 juveniles with 15.40 ± 0.32 years). A set of kinematic and propulsion variables was measured at maximum swimming velocity. Statistical Parametric Mapping was used as a continuous analysis approach to identify differences in the propulsion of both upper limbs between junior and juvenile swimmers. Junior swimmers were significantly faster than juveniles (p = 0.04, d = 0.86). Although juniors showed higher propulsion values, the SPM did not reveal significant differences (p < 0.05) for dominant and non-dominant upper limbs between the two age groups. This indicates that other factors (such as drag) may be responsible for the difference in swimming velocity. Coaches and swimmers should be aware that an increase in propulsion alone may not immediately lead to an increase in swimming velocity.

COVID-19-related mortality in kidney transplant and dialysis patients: results of the ERACODA collaboration.

BACKGROUND: Patients on kidney replacement therapy comprise a vulnerable population and may be at increased risk of death from coronavirus disease 2019 (COVID-19). Currently, only limited data are available on outcomes in this patient population. METHODS: We set up the ERACODA (European Renal Association COVID-19 Database) database, which is specifically designed to prospectively collect detailed data on kidney transplant and dialysis patients with COVID-19. For this analysis, patients were included who presented between 1 February and 1 May 2020 and had complete information available on the primary outcome parameter, 28-day mortality. RESULTS: Of the 1073 patients enrolled, 305 (28%) were kidney transplant and 768 (72%) dialysis patients with a mean age of 60 ± 13 and 67 ± 14 years, respectively. The 28-day probability of death was 21.3% [95% confidence interval (95% CI) 14.3-30.2%] in kidney transplant and 25.0% (95% CI 20.2-30.0%) in dialysis patients. Mortality was primarily associated with advanced age in kidney transplant patients, and with age and frailty in dialysis patients. After adjusting for sex, age and frailty, in-hospital mortality did not significantly differ between transplant and dialysis patients [hazard ratio (HR) 0.81, 95% CI 0.59-1.10, P = 0.18]. In the subset of dialysis patients who were a candidate for transplantation (n = 148), 8 patients died within 28 days, as compared with 7 deaths in 23 patients who underwent a kidney transplantation <1 year before presentation (HR adjusted for sex, age and frailty 0.20, 95% CI 0.07-0.56, P < 0.01). CONCLUSIONS: The 28-day case-fatality rate is high in patients on kidney replacement therapy with COVID-19 and is primarily driven by the risk factors age and frailty. Furthermore, in the first year after kidney transplantation, patients may be at increased risk of COVID-19-related mortality as compared with dialysis patients on the waiting list for transplantation. This information is important in guiding clinical decision-making, and for informing the public and healthcare authorities on the COVID-19-related mortality risk in kidney transplant and dialysis patients.

Rapid antidepressant effects of the psychedelic ayahuasca in treatment-resistant depression: a randomized placebo-controlled trial.

BACKGROUND: Recent open-label trials show that psychedelics, such as ayahuasca, hold promise as fast-onset antidepressants in treatment-resistant depression. METHODS: To test the antidepressant effects of ayahuasca, we conducted a parallel-arm, double-blind randomized placebo-controlled trial in 29 patients with treatment-resistant depression. Patients received a single dose of either ayahuasca or placebo. We assessed changes in depression severity with the Montgomery-Åsberg Depression Rating Scale (MADRS) and the Hamilton Depression Rating scale at baseline, and at 1 (D1), 2 (D2), and 7 (D7) days after dosing. RESULTS: We observed significant antidepressant effects of ayahuasca when compared with placebo at all-time points. MADRS scores were significantly lower in the ayahuasca group compared with placebo at D1 and D2 (p = 0.04), and at D7 (p < 0.0001). Between-group effect sizes increased from D1 to D7 (D1: Cohen's d = 0.84; D2: Cohen's d = 0.84; D7: Cohen's d = 1.49). Response rates were high for both groups at D1 and D2, and significantly higher in the ayahuasca group at D7 (64% v. 27%; p = 0.04). Remission rate showed a trend toward significance at D7 (36% v. 7%, p = 0.054). CONCLUSIONS: To our knowledge, this is the first controlled trial to test a psychedelic substance in treatment-resistant depression. Overall, this study brings new evidence supporting the safety and therapeutic value of ayahuasca, dosed within an appropriate setting, to help treat depression. This study is registered at http://clinicaltrials.gov (NCT02914769).

Combined Organic Photovoltaic Cells and Ultra Low Power CMOS Circuit for Indoor Light Energy Harvesting.

This paper describes an energy harvesting system composed of an organic photovoltaic cell (OPV) connected to a DC-DC converter, designed in a 130 nm Complementary Metal-Oxide-Semiconductor (CMOS) technology, with a quasi- maximum power point tracking (MPPT) algorithm to maximize the system efficiency, for indoor applications. OPVs are an emerging technology with potential for low cost indoor light energy harvesting. The OPV current-voltage curves (I-V) under an irradiance of solar simulator Oriel Sol 3A, at room temperature, are obtained and an accurate electrical model is derived. The energy harvesting system is subjected to four different indoor light sources: 35 W halogen, 3.5 W LED, 5 W LED, and 7 W LED, positioned at three different heights (0.45 m, 0.26 m, and 0.11 m), to evaluate the potential of the system for indoor applications. The measurements showed maximum efficiencies of 60% for 35 W halogen and 45% for 7 W LED at the highest distance (0.45 m) and between 60% (5 W LED) and 70% (35 W halogen), at the shorter distance (0.11 m). Under irradiation, the integrated CMOS circuit presented a maximum efficiency of 75.76%, which is, to the best of the authors' knowledge, the best reported power management unit (PMU) energy system using organic photovoltaic cells.

Physical Exercise for Individuals With Spinal Cord Injury: Systematic Review Based on the International Classification of Functioning, Disability, and Health.

Introduction: Considering the reduction of physical activity performed daily in people with spinal cord injury, it is necessary to analyze the interventions based on physical exercises in order to provide recommendations based on evidence. Objectives: To review and evaluate the literature on physical exercise interventions for individuals with SCI, based on the International Classification of Functioning, Disability and Health, as well as physiological parameters for exercise prescription. Method: A systematic review of the literature produced from August 2016 to February 2017 within the PubMed, Embase, Cochrane Library, and MEDLINE databases. Results: Two independent examiners conducted a search in which 223 articles were initially found. A third evaluator verified possible divergences and generated a final list of 25 articles that strictly met the inclusion criteria, 5 of which investigated the effects of aerobic exercise, 2 of resistance training, 2 of balance training, 12 of gait training, and 4 evaluating the combined effect of 2 or more forms of training. Conclusion: Considering studies classified as of high and moderate quality of evidence, positive effects were observed in the domains of structures and functions, in aerobic, resistance training and combined exercises, and in some studies with gait training. In the domain of activities and participation, positive effects were observed in the studies with gait training, balance training, and combined interventions.

Infrastructure for Integration of Legacy Electrical Equipment into a Smart-Grid Using Wireless Sensor Networks.

At present, the standardisation of electrical equipment communications is on the rise. In particular, manufacturers are releasing equipment for the smart grid endowed with communication protocols such as DNP3, IEC 61850, and MODBUS. However, there are legacy equipment operating in the electricity distribution network that cannot communicate using any of these protocols. Thus, we propose an infrastructure to allow the integration of legacy electrical equipment to smart grids by using wireless sensor networks (WSNs). In this infrastructure, each legacy electrical device is connected to a sensor node, and the sink node runs a middleware that enables the integration of this device into a smart grid based on suitable communication protocols. This middleware performs tasks such as the translation of messages between the power substation control centre (PSCC) and electrical equipment in the smart grid. Moreover, the infrastructure satisfies certain requirements for communication between the electrical equipment and the PSCC, such as enhanced security, short response time, and automatic configuration. The paper’s contributions include a solution that enables electrical companies to integrate their legacy equipment into smart-grid networks relying on any of the above mentioned communication protocols. This integration will reduce the costs related to the modernisation of power substations.

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase ß: data from the Fabry Registry.

BACKGROUND: Agalsidase ß is a form of enzyme replacement therapy for Fabry disease, a genetic disorder characterised by low α-galactosidase A activity, accumulation of glycosphingolipids and life-threatening cardiovascular, renal and cerebrovascular events. In clinical trials, agalsidase ß cleared glycolipid deposits from endothelial cells within 6 months; clearance from other cell types required sustained treatment. We hypothesised that there might be a 'lag time' to clinical benefit after initiating agalsidase ß treatment, and analysed the incidence of severe clinical events over time in patients receiving agalsidase ß. METHODS: The incidence of severe clinical events (renal failure, cardiac events, stroke, death) was studied in 1044 adult patients (641 men, 403 women) enrolled in the Fabry Registry who received agalsidase ß (average dose 1 mg/kg every 2 weeks) for up to 5 years. RESULTS: The incidence of all severe clinical events was 111 per 1000 person-years (95% CI 84 to 145) during the first 6 months. After 6 months, the incidence decreased and remained stable within the range of 40-58 events per 1000 patient-years. The largest decrease in incidence rates was among male patients and those aged ≥40 years when agalsidase ß was initiated. CONCLUSIONS: Contrary to the expected increased incidence of severe clinical events with time, adult patients with Fabry disease had decreased incidence of severe clinical events after 6 months treatment with agalsidase ß 1 mg/kg every 2 weeks. TRIAL REGISTRATION NUMBER: NCT00196742.

Race analysis in swimming: understanding the evolution of publications, citations and networks through a bibliometric review.

The aim of this study was to conduct a scoping and bibliometric review of swimming articles related to race analysis. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were used to identify relevant studies. Articles on race analysis in swimming published between 1984 and December 31, 2023 were retrieved from the Web of Science database. 366 records were screened and a total of 74 articles were retained for analysis. Until 2012, there were some time intervals with no or few publications. From 2012, there was a clear upward trend in publications and citations. This theme was led by the United States of America, Australia, and Spain. Australia and Spain maintain their status as the countries with the most publications. The analysis of author collaborations revealed two clusters with Spanish authors, and the remaining clusters are composed of Portuguese, Swiss, and Australian authors. With this bibliometric review, it has been possible to understand the evolution of the articles published on race analysis in swimming, the countries and the authors that have contributed most to this topic over the years. The prediction model shows that the number of articles and citations on this topic will continue to increase over the next 10 years (until 2034).

Association between the Upper Quarter Dynamic Balance, Anthropometrics, Kinematics, and Swimming Speed.

Besides recurrently assessed water-based parameters, there are also some individual characteristics that affect swimming performance that are not water related. In the past few years, dynamic balance has been associated with land sports performance. Conversely, evidence on this topic in swimming is scarce. The purpose of this study was to assess the association between on-land dynamic balance and swimming performance. Sixteen young adults and recreational swimmers were recruited for the present study (8 males 20.8 ± 2.0 years, and 8 females 20.1 ± 1.9 years). A set of anthropometric features were measured. The upper quarter Y-balance test was selected as a dynamic balance outcome, and swimming speed as the swimming performance indicator. The results showed a moderate and positive correlation between dynamic balance and swimming performance (p < 0.05). Speed fluctuation was highly and negatively related to swimming speed (p < 0.001), i.e., swimmers who had higher scores in the dynamic balance were more likely to deliver better performances. This suggests that in recreational swimmers, the stability and mobility of the upper extremity had a greater influence on swimming performance. Therefore, swimming instructors are advised to include dynamic balance exercises in their land-based training sessions to improve their swimmers' performance.

The Effectiveness of Pilates Training Interventions on Older Adults' Balance: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

BACKGROUND AND OBJECTIVES: Pilates training intervention programs have gained attention as a potential approach to enhancing balance in older adults, thereby reducing the risk of falls. In light of these considerations, this systematic review and meta-analysis aimed to critically evaluate the existing evidence and determine the effect of Pilates training intervention programs on older adults' balance. MATERIALS AND METHODS: The literature was searched through the PubMed, Web of Science, and Scopus databases from inception until July 2023. The primary keywords used for the literature search included "elderly" or "older adults" and "pilates training" and "balance". RESULTS: The systematic review through qualitative analysis showed robust evidence about the efficacy of Pilates intervention programs in improving older adults' balance. The pooled meta-analysis of static and dynamic balance showed that eight (53%) out of a total fifteen analyzed interventions presented a significant effect of Pilates in improving the participants' balance, without between-study heterogeneity. In addition, the meta-analysis regarding dynamic balance showed that six (67%) out of nine analyzed interventions presented a significant effect of Pilates in improving the participants' balance, without heterogeneity between studies. Similarly, the meta-analysis regarding static balance showed that four (50%) out of eight analyzed studies presented significant effects on the older adults' balance, where moderate between-study heterogeneity was found. Sensitivity analysis showed that three studies reduced the between-study heterogeneity (19, 17.6, and 17%), regressing from moderate to low heterogeneity, p < 0.05. CONCLUSIONS: This systematic review and meta-analysis underscores the potential of Pilates training as a valuable intervention to enhance balance in the elderly population.

Use of Calotropis procera cysteine peptidases (CpCPs) immobilized on glyoxyl-agarose for cheesemaking.

Calotropis procera cysteine peptidases (CpCPs) have presented several potential biotechnological applications. Here, these enzymes were immobilized on glyoxyl-agarose (glyoxyl-CpCPs) with yields of 90-95 % and the recovered activities ranged from 10 % to 15 %, according to enzyme loadings (5, 10, 20, 40, and 50 mgBSAeq/g). Spectrophotometric assays and SDS-PAGE showed that the casein hydrolysis by glyoxyl-CpCPs was similar to soluble CpCPs. In addition, glyoxyl-CpCPs exhibited similar ratio of milk-clotting activity to proteolytic activity in comparison with soluble CpCPs and chymosin. Even after being stored for six months at 8 °C, the residual proteolytic activity of glyoxyl-CpCPs remained close to 100 %. Atomic force microscopy and dynamic light scattering techniques showed that the process of casein micelle aggregation after treatment with glyoxyl-CpCPs was very similar to its soluble form and chymosin. Glyoxyl-CpCPs performed well after five reaction cycles, producing cheeses with yield, moisture, protein, and fat similar to those produced with chymosin.

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.

BACKGROUND: The purpose of this study was to identify determinants of renal disease progression in adults with Fabry disease during treatment with agalsidase beta. METHODS: Renal function was evaluated in 151 men and 62 women from the Fabry Registry who received agalsidase beta at an average dose of 1 mg/kg/2 weeks for at least 2 years. Patients were categorized into quartiles based on slopes of estimated glomerular filtration rate (eGFR) during treatment. Multivariate logistic regression analyses were used to identify factors associated with renal disease progression. RESULTS: Men within the first quartile had a mean eGFR slope of -0.1 mL/min/1.73m(2)/year, whereas men with the most rapid renal disease progression (Quartile 4) had a mean eGFR slope of -6.7 mL/min/1.73m(2)/year. The risk factor most strongly associated with renal disease progression was averaged urinary protein:creatinine ratio (UP/Cr) ≥1 g/g (odds ratio 112, 95% confidence interval (95% CI) 4-3109, P = 0.0054). Longer time from symptom onset to treatment was also associated with renal disease progression (odds ratio 19, 95% CI 2-184, P = 0.0098). Women in Quartile 4 had the highest averaged UP/Cr (mean 1.8 g/g) and the most rapid renal disease progression: (mean slope -4.4 mL/min/1.73m(2)/year). CONCLUSIONS: Adults with Fabry disease are at risk for progressive loss of eGFR despite enzyme replacement therapy, particularly if proteinuria is ≥1 g/g. Men with little urinary protein excretion and those who began receiving agalsidase beta sooner after the onset of symptoms had stable renal function. These findings suggest that early intervention may lead to optimal renal outcomes.

A compilation of experimental data on the mechanical properties and microstructural features of Ti-alloys.

The present work depicts a compilation of mechanical properties of 282 distinct multicomponent Ti-based alloys and their respective microstructural features. The dataset includes the chemical composition (in at.%), phase constituents, Young modulus, hardness, yield strength, ultimate strength, and elongation. Each entry is associated with a high-quality experimental work containing a complete description of the processing route and testing setup. Furthermore, we incorporated flags to the dataset indicating (a) the use of high-resolution techniques for microstructural analysis and (b) the observation of non-linear elastic responses during mechanical testing. Oxygen content and average grain size are presented whenever available. The selected features can help material scientists to adjust the data to their needs concerning materials selection and discovery. Most alloys in the dataset were produced via an ingot metallurgy route, followed by solubilization and water quench (≈58%), which is considered a standard condition for ß-Ti alloys. The database is hosted and maintained up to date in an open platform. For completeness, a few graphical representations of the dataset are included.

Determination of Cr(VI) in leather residues using graphite/paraffin composite electrodes modified with reduced graphene oxide nanosheets.

In this study, we determined the Cr(VI) in samples of tanned leather residues by differential pulse voltammetry (DPV) using graphite/paraffin composite electrodes modified with reduced graphene oxide nanosheets (referred to as GPEs/nsRGO). After the modification, the composite electrodes were characterized by two electrochemical techniques (i.e., cyclic voltammetry, CV, and electrochemical impedance spectroscopy, EIS), scanning electron microscopy, and Raman spectroscopy. The electroanalytical method was applied using the GPEs/nsRGO. An analytical curve was obtained in a Clark-Lubs buffer solution (pH = 1), with a linear concentration range from 25.0 to 392.0 µmol L-1 and a limit of detection (LOD) of 1.01 µmol L-1. The GPEs/nsRGO showed good reproducibility in their manufacturing process and good response repeatability with an RSD of 4.59% over twelve measurements. These composite electrodes showed excellent selectivity, which was demonstrated by analyses in the presence of metal ions (Ca2+, Zn2+, Mg2+, Fe3+, Co2+, Na+, and Cu2+) that did not interfere in the analysis of Cr(VI). The GPEs/nsRGO were applied to the determination of Cr(VI) in real samples of wet-blue leather and leather ash using DPV. This approach was validated using the sample recovery method, where it presented values from 95.6 to 108.2%. The proposed method showed satisfactory results compared to the literature and can be considered a good alternative for the determination of Cr(VI) in aqueous samples.

Serine carboxypeptidases from the carnivorous plant Nepenthes mirabilis: Partial characterization and heterologous expression.

This study aimed to partially characterize the three main serine carboxypeptidases (SCP3, SCP20, and SCP47) from Nepenthes mirabilis. Furthermore, one peptidase (SCP3) was chosen for further heterologous expression in Escherichia coli Shuffle®T7. SCP3 also was characterized in terms of its allergenic potential using bioinformatics tools. SCP3, SCP20, and SCP47 showed very similar 3D structures and mechanistic features to other plant serine peptidases belonging to clan SC and family S10. Although SCP3 was obtained in its soluble form, using 1% ethanol during induction with 0.5 mM IPTG at 16 °C for 18 h, it did not show proteolytic activity by zymography or in vitro analysis. SCP3 presented a few allergenic peptides and several cleavage sites for digestive enzymes. This work describes additional features of these enzymes, opening new perspectives for further studies for characterization and analysis of heterologous expression, as well as their potential biotechnological applications.

Latex peptidases produce peptides capable of delaying fungal growth in bread.

Antimicrobial peptides (AMPs) have been reported to be promising alternatives to chemical preservatives. Thus, this study aimed to characterise AMPs generated from the hydrolysis of wheat gluten proteins using latex peptidases of Calotropis procera, Cryptostegia grandiflora, and Carica papaya. The three hydrolysates (obtained after 16 h at 37 °C, using a 1: 25 enzyme:  substrate ratio) inhibited the growth of Aspergillus niger, A. chevalieri, Trichoderma reesei, Pythium oligandrum, Penicillium sp., and Lasiodiplodia sp. by 60-90%, and delayed fungal growth on bread by 3 days when used at 0.3 g/kg. Moreover, the specific volume and expansion factor of bread were not affected by the hydrolysates. Of 28 peptides identified, four were synthesised and exhibited activity against Penicillium sp. Fluorescence and scanning electron microscopy suggested that the peptides damaged the fungal plasma membrane. Bioinformatics analysis showed that no peptide was toxic and that the antigenic ones had cleavage sites for trypsin or pepsin.