keyword
MENU ▼
Read by QxMD icon Read
search

Fabry's

keyword
https://www.readbyqxmd.com/read/29165351/an-optical-interferometric-triaxial-displacement-sensor-for-structural-health-monitoring-characterization-of-sliding-and-debonding-for-a-delamination-process
#1
Chen Zhu, Yizheng Chen, Yiyang Zhuang, Yang Du, Rex E Gerald, Yan Tang, Jie Huang
This paper presents an extrinsic Fabry-Perot interferometer-based optical fiber sensor (EFPI) for measuring three-dimensional (3D) displacements, including interfacial sliding and debonding during delamination. The idea employs three spatially arranged EFPIs as the sensing elements. In our sensor, the three EFPIs are formed by three endfaces of three optical fibers and their corresponding inclined mirrors. Two coincident roof-like metallic structures are used to support the three fibers and the three mirrors, respectively...
November 22, 2017: Sensors
https://www.readbyqxmd.com/read/29164925/express-mid-infrared-standoff-spectroscopy-using-a-combination-of-supercontinuum-radiation-with-compact-fabry-p%C3%A3-rot-filter-spectrometer
#2
Jakob Kilgus, Kristina Duswald, Gregor Langer, Markus Brandstetter
No abstract text is available yet for this article.
January 1, 2017: Applied Spectroscopy
https://www.readbyqxmd.com/read/29161295/cardiac-and-renal-dysfunction-is-associated-with-progressive-hearing-loss-in-patients-with-fabry-disease
#3
Maria Köping, Wafaa Shehata-Dieler, Mario Cebulla, Kristen Rak, Daniel Oder, Jonas Müntze, Peter Nordbeck, Christoph Wanner, Rudolf Hagen, Sebastian Schraven
BACKGROUND: Fabry disease (FD) is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid (Gb3) in tissues of kidney and heart as well as central and peripheral nervous system. Besides prominent renal and cardiac organ involvement, cochlear symptoms like high-frequency hearing loss and tinnitus are frequently found with yet no comprehensive data available in the literature. OBJECTIVE: To examine hearing loss in patients with FD depending on cardiac and renal function...
2017: PloS One
https://www.readbyqxmd.com/read/29159077/long-term-outcomes-with-agalsidase-alfa-enzyme-replacement-therapy-analysis-using-deconstructed-composite-events
#4
Michael Beck, Derralynn Hughes, Christoph Kampmann, Guillem Pintos-Morell, Uma Ramaswami, Michael L West, Roberto Giugliani
This is a retrospective analysis of Fabry Outcome Survey data from children/adults (n = 677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity endpoints separately. Cardiac events occurred at younger ages than cerebrovascular or renal events, cerebrovascular events were more frequent in females than males, and males were more likely to experience cardiac and renal events at a younger age than females.
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29159076/parkinson-s-disease-prevalence-in-fabry-disease-a-survey-study
#5
Adina H Wise, Amy Yang, Hetanshi Naik, Chanan Stauffer, Natasha Zeid, Christopher Liong, Manisha Balwani, Robert J Desnick, Roy N Alcalay
Recent research has suggested a possible link between Parkinson's disease (PD) and Fabry disease. To test this relationship, we administered a self-report and family history questionnaire to determine the prevalence of PD in Fabry disease patients and family members with likely pathogenic alpha-galactosidase A (GLA) mutations. A total of 90 Fabry patients (77 from the online survey and 13 from the Icahn School of Medicine at Mount Sinai (ISMMS)) were included in the analysis. Two of the Fabry disease patients who completed the online survey were diagnosed with PD (2/90, 2...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29154979/small-fiber-neuropathy-diagnosis-causes-and-treatment
#6
Damien Sène
Small fiber neuropathy, which affects the sensory A≏ and C fibers, is now a major diagnostic and therapeutic challenge. Nearly 7% of the general population have chronic neuropathic pain responsible for severe quality-of-life impairments. Awareness must therefore be raised among clinicians of the somatosensory and autonomic symptoms that can reveal small fiber neuropathy, appropriate diagnostic investigations, most common causes, and best treatment options for each patient profile. To help achieve this goal, the present review article discusses the clinical presentation of neuropathic pain and paresthesia and/or autonomic dysfunction due to involvement of nerves supplying exocrine glands and smooth muscle; normal findings from standard electrophysiological investigations; most informative diagnostic tests (epidermal nerve fiber density in a skin biopsy, laser-evoked potentials, heat- and cold-detection thresholds, electrochemical skin conductance); main causes, which consist chiefly of metabolic diseases (diabetes mellitus, glucose intolerance), dysimmunity syndromes (Sjögren's syndrome, sarcoidosis, monoclonal gammopathy), and genetic abnormalities (familial amyloidosis due to a transthyretin mutation, Fabry disease, sodium channel diseases); and the available symptomatic and etiological treatments...
November 15, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29153820/aortic-arch-hybrid-repair-stent-bridging-of-the-supra-aortic-vessel-anastomoses-savsteb
#7
Maximilian Pichlmaier, Maximilian Luehr, Simon Rutkowski, Thomas Fabry, Sabina Guenther, Christian Hagl, Sven Peterss
The reattachment of the supra-aortic vessels during hybrid arch repair using a branched prosthesis is time consuming and sometimes technically challenging. Here, we describe the surgical technique of bridging the end-to-end anastomoses between the graft branches and the supra-aortic vessels by self-expanding covered stents to reduce suturing time, avoid anastomotic bleeding, enhance true lumen remodeling, and improve vessel alignment to the hybrid graft.
December 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29152458/lysosomal-storage-diseases
#8
REVIEW
Carlos R Ferreira, William A Gahl
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy...
May 25, 2017: Translational Science of Rare Diseases
https://www.readbyqxmd.com/read/29148151/inflammation-in-cardiac-amyloidosis-prognostic-marker-or-therapeutic-target
#9
EDITORIAL
Gianfranco Sinagra, Enrico Fabris
No abstract text is available yet for this article.
November 16, 2017: European Journal of Heart Failure
https://www.readbyqxmd.com/read/29146379/lt-adjuvant-modulates-epitope-specificity-and-improves-the-efficacy-of-murine-antibodies-elicited-by-sublingual-vaccination-with-the-n-terminal-domain-of-streptococcus-mutans-p1
#10
Milene Tavares Batista, Ewerton Lucena Ferreira, Gisela de Souza Pereira, Phillip Stafford, Denicar Lina Nascimento Fabris Maeda, Juliana Falcão Rodrigues, L Jeannine Brady, Stephen Albert Johnston, Luís Carlos de Souza Ferreira, Rita de Cássia Café Ferreira
In this study, we evaluated the immunogenicity, protective efficacy and peptide-based immune signatures of antibodies raised in mice after sublingual immunization with a recombinant form of the P1 (aka AgI/II, PAc) adhesin (P139-512) of Streptococcus mutans, a major etiological agent of dental caries. Sublingual administration of P139-512 in combination with the mucosal adjuvant LTK4R (a derivative of heat-labile LT toxin) induced strong and long-lasting systemic and mucosal immune responses. Incorporation of the adjuvant resulted in an enhancement of the anti-adhesive and anti-colonization activity against S...
November 13, 2017: Vaccine
https://www.readbyqxmd.com/read/29145452/behavioral-climatic-and-environmental-risk-factors-for-zika-and-chikungunya-virus-infections-in-rio-de-janeiro-brazil-2015-16
#11
Trevon L Fuller, Guilherme Calvet, Camila Genaro Estevam, Jussara Rafael Angelo, Gbenga J Abiodun, Umme-Aiman Halai, Bianca De Santis, Patricia Carvalho Sequeira, Eliane Machado Araujo, Simone Alves Sampaio, Marco Cesar Lima de Mendonça, Allison Fabri, Rita Maria Ribeiro, Ryan Harrigan, Thomas B Smith, Claudia Raja Gabaglia, Patrícia Brasil, Ana Maria Bispo de Filippis, Karin Nielsen-Saines
The burden of arboviruses in the Americas is high and may result in long-term sequelae with infants disabled by Zika virus infection (ZIKV) and arthritis caused by infection with Chikungunya virus (CHIKV). We aimed to identify environmental drivers of arbovirus epidemics to predict where the next epidemics will occur and prioritize municipalities for vector control and eventual vaccination. We screened sera and urine samples (n = 10,459) from residents of 48 municipalities in the state of Rio de Janeiro for CHIKV, dengue virus (DENV), and ZIKV by molecular PCR diagnostics...
2017: PloS One
https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#12
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J Desnick, Alessandro P Burlina
BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases...
November 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29141492/a-case-report-of-hyponatremia-after-surgery-for-conn-s-adenoma
#13
Giulia Furlanis, Stella Bernardi, Monica Cavressi, Lorenzo Zandonà, Renzo Carretta, Bruno Fabris, Moreno Bardelli
Primary aldosteronism (PA), also known as Conn's syndrome, is a frequent cause of secondary hypertension. If PA is due to a documented unilateral adrenal adenoma, adrenalectomy is the treatment of choice. Endocrine Society guidelines suggest monitoring potassium after adrenalectomy, while there is no mention of sodium disorders after surgery. Here we report the case of a patient with Conn's syndrome who developed hyponatremia after surgery. This was an unexpected event in the course of the treatment, which sheds light on the fact that low levels of aldosterone strongly influence sodium concentration, and advises clinicians to monitor sodium after adrenalectomy...
October 2017: Journal of the Renin-angiotensin-aldosterone System: JRAAS
https://www.readbyqxmd.com/read/29140564/%C3%AE-catenin-and-il-1%C3%AE-dependent-cxcl10-production-drives-progression-of-disease-in-a-mouse-model-of-congenital-hepatic-fibrosis
#14
Eleanna Kaffe, Romina Fiorotto, Francesca Pellegrino, Valeria Mariotti, Mariangela Amenduni, Massimiliano Cadamuro, Luca Fabris, Mario Strazzabosco, Carlo Spirli
Congenital Hepatic Fibrosis (CHF), a genetic disease caused by mutations in the PKHD1 gene, encoding for the protein fibrocystin (FPC), is characterized by biliary dysgenesis, progressive portal fibrosis, and by a PKA-mediated activating phosphorylation of β-Catenin at Ser675. Biliary structures of Pkhd1(del4/del4) mice, a mouse model of CHF, secrete CXCL10 a chemokine able to recruit macrophages. The aim of this study is to clarify whether CXCL10 plays a pathogenetic role in disease progression in CHF/CD and to understand the mechanisms leading to increased CXCL10 secretion...
November 15, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29138954/identification-of-compounds-from-palicourea-rigida-leaves-with-topical-anti-inflammatory-potential-using-experimental-models
#15
Rafael P Pinheiro, Muiara A Moraes, Bruna C S Santos, Rodrigo L Fabri, Glauciemar Del-Vechio-Vieira, Célia H Yamamoto, Ana Lúcia S M Araújo, Aílson L A Araújo, Orlando V Sousa
Palicourea rigida Kunth is traditionally used for the treatment of skin diseases, kidney pains and ovarian inflammation. Based on these traditional uses, this study evaluated the topical anti-inflammatory activity of the ethanol extract from P. rigida leaves (EEPR) and identified bioactive compounds. Ear edema was induced in Swiss mice by the topical application of Croton oil, arachidonic acid, phenol and capsaicin. Histopathological analysis and myeloperoxidase and N-acetyl-β-D-glucosaminidase activities were determined...
November 14, 2017: Inflammopharmacology
https://www.readbyqxmd.com/read/29134013/southern-ocean-echinoids-database-an-updated-version-of-antarctic-sub-antarctic-and-cold-temperate-echinoid-database
#16
Salomé Fabri-Ruiz, Thomas Saucède, Bruno Danis, Bruno David
This database includes over 7,100 georeferenced occurrence records of sea urchins (Echinodermata: Echinoidea) obtained from samples collected in the Southern Ocean (+180°W/+180°E; -35°/-78°S) during oceanographic cruises led over 150 years, from 1872 to 2015. Echinoids are common organisms of Southern Ocean benthic communities. A total of 201 species is recorded, which display contrasting depth ranges and distribution patterns across austral provinces and bioregions. Echinoid species show various ecological traits including different nutrition and reproductive strategies...
2017: ZooKeys
https://www.readbyqxmd.com/read/29132836/prevalence-of-fabry-disease-in-young-patients-with-stroke-in-argentina
#17
Ricardo C Reisin, Julieta Mazziotti, Luciana León Cejas, Alberto Zinnerman, Pablo Bonardo, Manuel Fernández Pardal, Alejandra Martínez, Patricia Riccio, Sebastián Ameriso, Eduardo Bendersky, Pedro Nofal, Patricia Cairola, Lorena Jure, Andrea Sotelo, Paula Rozenfeld, Romina Ceci, Ignacio Casas-Parera, Analía Sánchez Luceros
BACKGROUND: Fabry disease (FD) is an underdiagnosed cause of stroke in young adults, but the frequency of this association is largely unknown. We estimated the prevalence of FD in a nationwide cohort of young adults who had stroke and transient ischemic attack (TIA) in Argentina. METHODS: This was a prospective, multicenter study of stroke and FD in young adults (18-55 years) conducted in Argentina between 2011 and 2015. Patients were enrolled if they had had a TIA or an ischemic or hemorrhagic stroke within the previous 180 days...
November 10, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29131444/native-t1-reference-values-for-nonischemic-cardiomyopathies-and-populations-with-increased-cardiovascular-risk-a-systematic-review-and-meta-analysis
#18
REVIEW
Maaike van den Boomen, Riemer H J A Slart, Enzo V Hulleman, Rudi A J O Dierckx, Birgitta K Velthuis, Pim van der Harst, David E Sosnovik, Ronald J H Borra, Niek H J Prakken
BACKGROUND: Although cardiac MR and T1 mapping are increasingly used to diagnose diffuse fibrosis based cardiac diseases, studies reporting T1 values in healthy and diseased myocardium, particular in nonischemic cardiomyopathies (NICM) and populations with increased cardiovascular risk, seem contradictory. PURPOSE: To determine the range of native myocardial T1 value ranges in patients with NICM and populations with increased cardiovascular risk. STUDY TYPE: Systemic review and meta-analysis...
November 13, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/29131198/microwave-photonic-filter-based-interrogation-system-for-multiple-fiber-bragg-grating-sensors
#19
Maria I Comanici, Lawrence R Chen, Peter Kung
Fiber optic sensors based on fiber Bragg gratings (FBGs) find potential use in condition monitoring because their spectral properties change according to external environmental and/or physical factors. We propose and demonstrate a technique for interrogating multiple FBG-based sensors based on microwave photonic (MWP) filtering. In particular, we exploit the spectrum-slicing properties of two different FBG Fabry-Perot cavities to implement a double passband MWP filter. Each sensor spectrum results in a unique MWP filter passband...
November 10, 2017: Applied Optics
https://www.readbyqxmd.com/read/29120015/ascending-aortic-remodelling-in-fabry-disease-after-long-term-enzyme-replacement-therapy
#20
Pierre Monney, Salah Dine Qanadli, Steven Hajdu, Christel Tran, Juerg Schwitter, Olivier Dormond, Frédéric Barbey
BACKGROUND: Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors. AIMS OF THE STUDY: To characterise the remodelling of the ascending aorta in classic Fabry disease under long-term enzyme replacement therapy. METHODS: Diameter of the ascending aorta was measured with magnetic resonance imaging at the sino-tubular junction (STJ), and proximal (pAsAo), and distal ascending aorta (dAsAo) at baseline, and after 5 and 10 years of enzyme replacement therapy in 15 adult Fabry patients (10 males; 5 females)...
November 9, 2017: Swiss Medical Weekly
keyword
keyword
86731
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"