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REVIEW
Haya Majid, Neharika Verma, Shivani Bhandari, Sparsh Gupta, Agarwal Nidhi
INTRODUCTION: Fabry's disease (FD) is a genetic lysosomal storage disorder characterized by α-galactosidase A (α-Gal A) lost/reduced activity. We aim to systematically assess the safety and efficacy of Migalastat, an oral pharmacological chaperone, that has been approved for the treatment of FD in patients with amenable mutations. METHODS: We conducted literature search following the PRISMA guidelines in major databases up to 4 February 2024, for studies that assessed the clinical outcomes of migalastat in patients with FD...
May 16, 2024: Expert Opinion on Pharmacotherapy
#2
REVIEW
Ana Luísa Falcomer, Bernardo Romão de Lima, Priscila Farage, Samantha Fabris, Ruth Ritter, António Raposo, Edite Teixeira-Lemos, Cláudia Chaves, Renata Puppin Zandonadi
Celiac disease (CD) is an autoimmune chronic enteropathy provoked by gluten ingestion in genetically predisposed individuals. Considering it´s only safe treatment is a lifelong gluten-free diet, the burden of living with the disease becomes evident, as well as the need to assess CD health-related quality of life (HRQOL). This review aims to identify and analyze the instruments used to evaluate the HRQOL of adults with CD. This integrative review using a systematic approach was designed to achieve high scientific standards...
2024: Frontiers in Immunology
#3
JOURNAL ARTICLE
Julen Rodríguez-Castejón, Marina Beraza-Millor, María Ángeles Solinís, Alicia Rodríguez-Gascón, Ana Del Pozo-Rodríguez
Fabry disease (FD) results from a lack of activity of the lysosomal enzyme α-Galactosidase A (α-Gal A), leading to the accumulation of glycosphingolipids in several different cell types. Protein supplementation by pDNA or mRNA delivery presents a promising strategy to tackle the underlying genetic defect in FD. Protein-coding nucleic acids in FD can be either delivered to the most affected sites by the disease, including heart, kidney and brain, or to specialized organs that can act as a production factory of the enzyme, such as the liver...
April 8, 2024: Drug Delivery and Translational Research
#4
JOURNAL ARTICLE
André Luis Fabris, Stig Pedersen-Bjergaard, Elisabeth Leere Øiestad, Giordano Novak Rossi, Jaime E Cecílio Hallak, Rafael Guimarães Dos Santos, Jose Luiz Costa, Mauricio Yonamine
BACKGROUND: Parallel artificial liquid membrane extraction (PALME) is a 96-well plate setup variant of liquid-phase microextraction. Basic or acidic analytes are extracted in neutral form from the sample, through a supported liquid membrane (SLM), and into aqueous acceptor. PALME is already considered a green extraction technique, but in the current conceptual work, we sought to make it even greener by replacing the use of organic solvents with essential oils (EO). PALME was combined with LC-MS/MS for analysis of plasma samples and multiple drugs of abuse with toxicological relevance (amphetamines, phenethylamines, synthetic cathinones, designer benzodiazepines, ayahuasca alkaloids, lysergic acid diethylamide, and ketamine)...
May 1, 2024: Analytica Chimica Acta
#5
JOURNAL ARTICLE
Adrian Buttazzoni, Julia Pham, Kendra Nelson Ferguson, Emma Fabri, Andrew Clark, Danielle Tobin, Nathaniel Frisbee, Jason Gilliland
Even though regular engagement in physical activity (PA) among children can support their development and encourage the adoption of healthy lifelong habits, most do not achieve their recommended guidelines. Active travel (AT), or any form of human-powered travel (e.g., walking), can be a relatively accessible, manageable, and sustainable way to promote children's PA. One common barrier to children's engagement in AT, however, is a reported lack of education and training. To support children's participation in AT, this paper presents the development of a comprehensive 4-module online road safety education intervention designed to improve children's knowledge and confidence regarding AT...
December 2024: International Journal of Qualitative Studies on Health and Well-being
#6
JOURNAL ARTICLE
Caroline Morbach, Stefan Störk
Heart failure with a preserved ejection fraction (HFpEF) is a multifaceted disease entity. Confirming the diagnosis as well as tailoring the most appropriate therapy remains an ongoing challenge. The 2021 heart failure guidelines of the European Society of Cardiology (ESC) suggested a simplified diagnostic approach, and the guideline update provided in 2023 gave recommendations regarding pharmacotherapy based on recent evidence. Further, the Heart Failure Association (HFA) and the European Heart Rhythm Association of the ESC jointly proposed a scheme how to classify HFpEF patients into phenogroups of distinct pathophysiology that may benefit from individually targeted treatment...
March 2024: Deutsche Medizinische Wochenschrift
#7
JOURNAL ARTICLE
Nikola Opačak, Dmitry Kazakov, Lorenzo L Columbo, Maximilian Beiser, Theodore P Letsou, Florian Pilat, Massimo Brambilla, Franco Prati, Marco Piccardo, Federico Capasso, Benedikt Schwarz
Optical frequency-comb sources, which emit perfectly periodic and coherent waveforms of light1 , have recently rapidly progressed towards chip-scale integrated solutions. Among them, two classes are particularly significant-semiconductor Fabry-Perót lasers2-6 and passive ring Kerr microresonators7-9 . Here we merge the two technologies in a ring semiconductor laser10,11 and demonstrate a paradigm for the formation of free-running solitons, called Nozaki-Bekki solitons. These dissipative waveforms emerge in a family of travelling localized dark pulses, known within the complex Ginzburg-Landau equation12-14 ...
January 2024: Nature
#8
JOURNAL ARTICLE
Kathleen Nicholls, Charles Denaro, Michel Tchan, Carolyn Ellaway, Drago Bratkovic, Sheridan Campbell, Megan Fookes, Mark Thomas
BACKGROUND: Disease-specific therapy aims to improve symptoms, stabilise current disease and delay progression in patients with Fabry disease. In Australia, treatment access is subject to eligibility criteria initially established in 2004. Patients and their clinicians question why these criteria have remained unchanged despite significant progress in disease understanding. AIMS: Appraise the clinical quality of the Australian treatment access criteria. METHODS: The Fabry Australia Medical Advisory Committee (N = 6) used the Appraisal of Guidelines for REsearch and Evaluation Global Rating Scale (AGREE II GRS) to assess the clinical quality of the current treatment eligibility criteria...
January 11, 2024: Internal Medicine Journal
#9
JOURNAL ARTICLE
Emanuele Monda, Gaetano Diana, Francesca Graziani, Marta Rubino, Athanasios Bakalakos, Ales Linhart, Dominique P Germain, Maurizio Scarpa, Elena Biagini, Maurizio Pieroni, Perry Mark Elliott, Giuseppe Limongelli
BACKGROUND: The diagnosis of Fabry disease (FD) has relevant implications related to the management. Thus, a clear assignment of GLA variant pathogenicity is crucial. This systematic review and meta-analysis aimed to investigate the prevalence of FD in high-risk populations and newborns and evaluate the impact of different GLA variant classifications on the estimated prevalence of FD. METHODS: We searched the EMBASE and PubMed databases on February 21, 2023. Observational studies evaluating the prevalence of FD and reporting the identified GLA variants were included...
December 4, 2023: Circulation. Genomic and Precision Medicine
#10
Bartlomiej Blaszczyk, Mieszko Wieckiewicz, Mariusz Kusztal, Monika Michalek-Zrabkowska, Gabriella Lachowicz, Grzegorz Mazur, Helena Martynowicz
BACKGROUND: Fabry disease (FD) is an X-chromosome-linked disorder characterized by a reduced or complete absence of the enzyme α-galactosidase, resulting in the accumulation of lysosomal globotriaosylceramide. Despite the presence of these deposits in multiple organs, the problem of sleep disorders within this population has very rarely been documented. OBJECTIVE: This study aimed to investigate the types and prevalence of sleep disorders among patients with FD...
2023: Frontiers in Neurology
#11
JOURNAL ARTICLE
Daniel G Bichet, Robert J Hopkin, Patrício Aguiar, Sridhar R Allam, Yin-Hsiu Chien, Roberto Giugliani, Staci Kallish, Sabina Kineen, Olivier Lidove, Dau-Ming Niu, Iacopo Olivotto, Juan Politei, Paul Rakoski, Roser Torra, Camilla Tøndel, Derralynn A Hughes
OBJECTIVE: Fabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral chaperone therapy migalastat to the available treatment options for Fabry disease is not yet universally reflected in all treatment guidelines. These consensus recommendations are intended to provide guidance for the treatment and monitoring of patients with Fabry disease receiving migalastat...
2023: Frontiers in Medicine
#12
JOURNAL ARTICLE
Amber Van Baelen, Laurence Roosens, Sylvie Devos, Stijn Verhulst, François Eyskens
BACKGROUND: Gaucher's and Fabry's disease are two of the most common treatable lysosomal storage diseases, and have a wide spectrum of clinical symptoms. Early detection is important, because timely initiation of treatments can improve the disease status and prevent complications. However disease manifestations develop in childhood, diagnosis is delayed until adulthood partly due to the limitations of the currently used diagnostic pathway. The aim of this research is to develop and validate a multiplex assay and defining reference ranges, which do not exist at this moment, to improve and facilitate the entire diagnostic work up and enable treatment in an earlier stage of disease...
December 2023: Molecular Genetics and Metabolism Reports
#13
REVIEW
Ian Keyzor, Simon Shohet, Jeff Castelli, Sheela Sitaraman, Biliana Veleva-Rotse, Jill M Weimer, Brian Fox, Tobias Willer, Steve Tuske, Louise Crathorne, Klara J Belzar
The treatment landscape for lysosomal storage disorders (LSDs) is rapidly evolving. An increase in the number of preclinical and clinical studies in the last decade has demonstrated that pharmacological chaperones are a feasible alternative to enzyme replacement therapy (ERT) for individuals with LSDs. A systematic search was performed to retrieve and critically assess the evidence from preclinical and clinical applications of pharmacological chaperones in the treatment of LSDs and to elucidate the mechanisms by which they could be effective in clinical practice...
August 7, 2023: Biomolecules
#14
JOURNAL ARTICLE
Dirk-Jan van Ginkel, Willem L Bor, Christophe L F Dubois, Hugo M Aarts, Maxim J P Rooijakkers, Kees H van Bergeijk, Liesbeth Rosseel, Leo Veenstra, Ole De Backer, Nicolas M Van Mieghem, Frank van der Kley, Adriaan Wilgenhof, Remigio Leonora, Jonathan Halim, Carl E Schotborgh, Emanuele Barbato, Jan A S Van Der Heyden, Peter Frambach, Bert Ferdinande, Darren Mylotte, Enrico Fabris, Benno J W M Rensing, Leo Timmers, Martin J Swaans, Jorn Brouwer, Vincent J Nijenhuis, Joyce Peper, Pieter A Vriesendorp, Bas de Laat, Marisa Ninivaggi, Hendrik Stragier, Michiel Voskuil, Alexander J J IJsselmuiden, Renicus S Hermanides, Pierfrancesco Agostoni, Arnoud W J van 't Hof, Joanna J Wykrzykowska, Niels van Royen, Ronak Delewi, Jurrien M Ten Berg
About one-third of patients undergoing transcatheter aortic valve implantation (TAVI) use oral anticoagulants (OAC), mainly due to atrial fibrillation. General guidelines advise interrupting OAC in patients with a high risk of bleeding undergoing interventions. However, preliminary observational data suggest that the continuation of OAC during TAVI is safe and may reduce the risk of periprocedural thromboembolic events. The Periprocedural Continuation Versus Interruption of Oral Anticoagulant Drugs During Transcatheter Aortic Valve Implantation (POPular PAUSE TAVI) is a multicentre, randomised clinical trial with open-label treatment and blinded endpoint assessment...
August 22, 2023: EuroIntervention
#15
JOURNAL ARTICLE
André Luis Fabris, Aline Franco Martins, Jose Luiz Costa, Mauricio Yonamine
Synthetic cannabinoids are still a growing trend among drug users and consist of a group of hundreds of highly potent compounds. To investigate the use of such substances, sample preparation of biological matrices is a crucial step prior to instrumental analysis. Although different efficient extraction techniques have been proposed for that aim, they usually do not fit eco-friendly guidelines that have been gaining popularity in recent years, such as Green Analytical Toxicology. This work uses describes for the first time the use of switchable hydrophilicity solvent-based homogenous liquid-liquid microextraction (SHS-HLLME) for synthetic cannabinoids...
July 16, 2023: Journal of Pharmaceutical and Biomedical Analysis
#16
JOURNAL ARTICLE
Karolina M Stepien, Alexander Broomfield, Duncan Cole, Patrick B Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir, Uma Ramaswami
BACKGROUND: Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people with Fabry disease are episodes of neuropathic pain reported in up to 80% of classical hemizygous male patients and up to 65% of heterozygous female patients. No clear consensus exists within UK clinical practice for the assessment and management of pain in Fabry disease based on agreed clinical practice and clinical experience...
July 21, 2023: Orphanet Journal of Rare Diseases
#17
JOURNAL ARTICLE
Jenny Avarappattu, Ariana Gaspert, Giuseppina Spartà, Marianne Rohrbach
BACKGROUND: Recommendations on when to start enzyme replacement therapy (ERT) in children with Fabry disease (FD) differ between guidelines. In this study, kidney biopsies of a cohort of 14 untreated children and one treated child were analyzed for their morphologic changes to determine whether early initiation of ERT is indicated. METHODS: All pediatric FD patients (< 18 years old) diagnosed between 2003 and 2021 in our department who received a kidney biopsy were enrolled...
January 2024: Pediatric Nephrology
#18
JOURNAL ARTICLE
Francesco Cardaioli, Luca Nai Fovino, Tommaso Fabris, Giulia Masiero, Federico Arturi, Aurora Trevisanello, Vittorio Zuccarelli, Massimo Napodano, Chiara Fraccaro, Saverio Continisio, Giuseppe Tarantini
OBJECTIVE: The European Society of Cardiology guidelines have recently defined new cut-offs for pulmonary hypertension (PH) and pulmonary vasculature resistance (PVR; median pulmonary artery pressure (mPAP) >20 instead of 25 mm Hg and PVR >2 instead of 3 Wood unit). The prognostic value of this updated classification after transcatheter aortic valve implantation (TAVI) is unknown. METHODS: 579 consecutive patients treated by TAVI with preprocedural right heart catheterisation evaluation were included...
July 6, 2023: Heart
#19
JOURNAL ARTICLE
Sébastien Bloc, Pascal Alfonsi, Anissa Belbachir, Marc Beaussier, Lionel Bouvet, Sébastien Campard, Sébastien Campion, Laure Cazenave, Pierre Diemunsch, Sophie Di Maria, Guillaume Dufour, Stéphanie Fabri, Dominique Fletcher, Marc Garnier, Anne Godier, Philippe Grillo, Olivier Huet, Alexandre Joosten, Sigismond Lasocki, Morgan Le Guen, Frédéric Le Saché, Isabelle Macquer, Constance Marquis, Jacques de Montblanc, Axel Maurice-Szamburski, Yên-Lan Nguyen, Laura Ruscio, Laurent Zieleskiewicz, Anaîs Caillard, Emmanuel Weiss
OBJECTIVE: The French Society of Anesthesiology and Intensive Care Medicine [Société Française d'Anesthésie et de Réanimation (SFAR)] aimed at providing guidelines for the implementation of perioperative optimization programs. DESIGN: A consensus committee of 29 experts from the SFAR was convened. A formal conflict-of-interest policy was developed at the outset of the process and enforced throughout. The entire guidelines process was conducted independently of any industry funding...
August 2023: Anaesthesia, Critical Care & Pain Medicine
#20
JOURNAL ARTICLE
Lisa Bauleo, Alessandra Fabri, Marco De Santis, Maria Eleonora Soggiu, Carla Ancona
OBJECTIVES: to estimate the impact of PM2.5 and PM10 in the Italian industrial areas included in the SENTIERI project characterized by industrial plants with combustion processes deriving from point emissions. DESIGN: using satellite data, the Population Weighted Exposure (PWE) to PM2.5 and PM10 for 2011 and 2015 was estimated. The concentration-response functions available were used to estimate the number of premature deaths attributable to exposure to industrial emissions...
2023: Epidemiologia e Prevenzione
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