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  1. Fabry Disease

    Science.gov (United States)

    ... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Fabry disease is caused by the lack of or faulty ... severe symptoms similar to males with the disorder. × Definition Fabry disease is caused by the lack of or faulty ...

  2. Cardiopulmonary involvement in Fabry's disease.

    Science.gov (United States)

    Koskenvuo, Juha W; Kantola, Ilkka M; Nuutila, Pirjo; Knuuti, Juhani; Parkkola, Riitta; Mononen, Ilkka; Hurme, Saija; Kalliokoski, Riikka; Viikari, Jorma S; Wendelin-Saarenhovi, Maria; Kiviniemi, Tuomas O; Hartiala, Jaakko J

    2010-04-01

    Fabry's disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A enzyme activity. Decreased enzyme activity leads to accumulation of glycosphingolipid in different tissues, including endothelial and smooth-muscle cells and cardiomyocytes. There is controversial data on cardiopulmonary involvement in Fabry's disease, because many reports are based on small and selected populations with Fabry's disease. Furthermore, the aetiology of cardiopulmonary symptoms in Fabry's disease is poorly understood. We studied cardiopulmonary involvement in seventeen patients with Fabry's disease (20-65 years, 6 men) using ECG, bicycle stress, cardiac magnetic resonance imaging, spirometry, diffusing capacity and pulmonary high-resolution computed tomography (HRCT) tests. Cardiopulmonary symptoms were compared to observed parameters in cardiopulmonary tests. Left ventricular hypertrophy (LVH) and reduced exercise capacity are the most apparent cardiac changes in both genders with Fabry's disease. ECG parameters were normal when excluding changes related to LVH. Spirometry showed mild reduction in vital capacity and forced expiratory volume in one second (FEV I), and mean values in diffusing capacity tests were within normal limits. Generally, only slight morphological pulmonary changes were detected using pulmonary HRCT, and they were not associated with changes in pulmonary function. The self-reported amount of pulmonary symptoms associated only with lower ejection fraction (P routine cardiopulmonary evaluation in Fabry's disease using echocardiography is maybe enough when integrated to counselling for aerobic exercise training.

  3. Genetics Home Reference: Fabry disease

    Science.gov (United States)

    ... Stroke: Fabry's Disease Information Page National Institute of Neurological Disorders and Stroke: Lipid Storage Diseases Fact Sheet Educational Resources (8 links) Children Living With Inherited Metabolic Diseases (CLIMB) (UK): Fabry ...

  4. Fabry disease in children

    DEFF Research Database (Denmark)

    Borgwardt, Line Gutte; Feldt-Rasmussen, U; Rasmussen, Aase Krogh

    2013-01-01

    retrospective cohort study of 10 children (9-16 years at baseline), who underwent regular systematic investigations for 1-8 years after initiation of ERT with agalsidase-beta (Fabryzyme®, Genzyme). Ophthalmological, echocardiographic abnormalities and hypohidrosis were found at baseline and during the follow......Fabry disease is a rare, multiorgan disease. The most serious complications involve the kidney, brain and heart. This study aims to assess the effect of enzyme replacement therapy (ERT) using agalsidase-beta in children with Fabry disease. We carried out a nationwide, descriptive and observational......-up period. Serious kidney, heart or brain involvement had not developed at the last follow-up examination. For the majority of the patients improvements were found concerning headache, acroparaesthesias and gastrointestinal pain during the follow-up period. The level of energy and physical activity also...

  5. Neurological manifestations in Fabry's disease

    DEFF Research Database (Denmark)

    Møller, Anette Torvin; Jensen, Troels Staehelin

    2007-01-01

    . Neurological symptoms, such as burning sensations (occasionally accompanied by acroparesthesia) and stroke, are among the first to appear, and occur in both male and female patients. A delay in establishing the diagnosis of Fabry's disease can cause unnecessary problems, especially now that enzyme replacement...... treatment is available to prevent irreversible organ damage. Females with Fabry's disease who present with pain have often been ignored and misdiagnosed because of the disorder's X-linked inheritance. This Review will stress the importance of recognizing neurological symptoms for the diagnosis of Fabry...

  6. Cochleovestibular Manifestations in Fabry Disease

    Directory of Open Access Journals (Sweden)

    Alberto Ciceran MD

    2016-09-01

    Full Text Available Fabry disease is a rare, X-linked lysosomal storage disorder resulting from deficient α-galactosidase A activity and globotriaosylceramide accumulation throughout the body. This accumulation leads to various clinical disorders, including inner ear lesions, with sensorineural hearing loss and dizziness. Although hearing loss is recognized in these patients, its incidence and natural history have not been characterized. Hearing disorders develop mainly in adulthood, and tinnitus may be an earlier symptom in Fabry disease. A significant incidence of mid- and high-frequency sensorineural hearing loss in affected males is commonly reported, whereas in female carriers, it is much less frequent. In addition, a high incidence of vestibular disorders with dizziness and chronic instability is also observed in these patients. The few studies about the effects of enzyme replacement therapy (ERT on cochleovestibular symptoms show controversial results. Based on the model of densely stained material accumulation in the inner ear, stria vascularis cell, and organ damage, an early indication of ERT may prevent hearing loss due to the reduction in substrate accumulation.

  7. Clinical heterogeneity in Fabry disease

    Directory of Open Access Journals (Sweden)

    G. N. Salogub

    2015-01-01

    Full Text Available Fabry disease is an X-linked, lysosomal storage disease (OMIM: 301500, caused by α-galactosidase A deficiency, resulting in accumulation of its substrates, glycosphingolipids, primarily – globotriaosylceramide, in the lysosomes of multiple cell types with multi-system clinical manifestations, even within the same family, including abnormalities of the central and peripheral nervous system, kidneys, heart, gastrointestinal tract, lungs, organ of vision. Clinical heterogeneity is often the reason of the delayed diagnosis. Nowadays enzyme replacement therapy has proved its efficiency in the treatment of Fabry disease. Including Fabry disease in the differential diagnosis of a large range of disorders is important because of its wide clinical heterogeneity and the possibility of an earlier intervention with a beneficial treatment.

  8. Fabry disease and early stroke

    DEFF Research Database (Denmark)

    Feldt-Rasmussen, U

    2011-01-01

    Fabry disease, an X-linked lysosomal storage disorder, results from deficient activity of the enzyme a-galactosidase A. Affected males with the classic phoenotype have acroparaesthesias, hypohidrosis, and corneal opacities in childhood and develop renal failure, cardiac hypertrophy or strokes in ...

  9. Fabry disease and early stroke

    DEFF Research Database (Denmark)

    Feldt-Rasmussen, U

    2011-01-01

    Fabry disease, an X-linked lysosomal storage disorder, results from deficient activity of the enzyme α-galactosidase A. Affected males with the classic phoenotype have acroparaesthesias, hypohidrosis, and corneal opacities in childhood and develop renal failure, cardiac hypertrophy or strokes in ...

  10. Elevated globotriaosylsphingosine is a hallmark of Fabry disease

    NARCIS (Netherlands)

    Aerts, Johannes M.; Groener, Johanna E.; Kuiper, Sijmen; Donker-Koopman, Wilma E.; Strijland, Anneke; Ottenhoff, Roelof; van Roomen, Cindy; Mirzaian, Mina; Wijburg, Frits A.; Linthorst, Gabor E.; Vedder, Anouk C.; Rombach, Saskia M.; Cox-Brinkman, Josanne; Somerharju, Pentti; Boot, Rolf G.; Hollak, Carla E.; Brady, Roscoe O.; Poorthuis, Ben J.

    2008-01-01

    Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A that affects males and shows disease expression in heterozygotes. The characteristic progressive renal insufficiency, cardiac involvement, and neuropathology usually are ascribed to

  11. Vertebrobasilar Dolichoectasia in Fabry Disease

    Directory of Open Access Journals (Sweden)

    Juan Politei

    2014-06-01

    Full Text Available Introduction: Fabry disease (FD is a lysosomal storage disorder associated with marked cerebrovascular involvement. Conventional magnetic resonance imaging (MRI shows different abnormalities, like white matter lesions that may already be present at an early stage in the disease. Aim: To present observations from a series of brain MRIs performed among a cohort of patients with FD and the relationship of imaging abnormalities with the presence of cardiovascular risk factors (CVRFs. Methods: A total of 70 patients with FD (43 women were enrolled. The cardiac, renal, ophthalmic, and peripheral nerve functioning was assessed. The MRI evaluation included assessment for evidence of ischemia, microbleeds, pulvinar sign, Arnold-Chiari type 1 malformation, and vertebrobasilar dolichoectasia (VBD. The presence or absence of CVRFs was examined for all patients. Results: Renal involvement was found in 60%, cardiac compromise in 30%, cornea verticillata in 91.4%, and acroparesthesias in 87.1% of patients. Brain MRI analysis found evidence of cerebral ischemic injury in 25.9% of men and 30.2% of women. Vertebrobasilar dolichoectasia was observed in imaging from 55.5% of men and 34.8% of women. The logistic regression analysis adjusted for cardiovascular risks factors, using ischemia or VBD as a dependent variable, showed no statistically significant results. Discussion: Our results have demonstrated cerebrovascular involvement before the third decade in many patients with FD. This study is further evidence confirming that women are not just carriers of FD and should be followed clinically and evaluated comprehensively to monitor for disease burden and progression. Although silent brain ischemias in MRI should be included as a key feature for the diagnoses of FD, VBD is an earlier and frequent sign.

  12. Fabry disease in light of recent review

    International Nuclear Information System (INIS)

    Uyama, Eiichiro

    2008-01-01

    Fabry disease is a lysosomal storage disorder that is caused by mutations in the gene encoding α-galactosidase A on Xq22.1. Typically hemizygous male patients exhibit classic phenotypes such as angiokeratoma, acroparesthesias, episodic pain ''crises,'' hypohidrosis, and whorl-shaped corneal opacities from childhood. However, during adulthood, they gradually develop kidney failure, heart disease, and strokes resulting in early death between 40 to 50 years of age. However, recent studies have indicated a high prevalence of disabling clinical symptoms in heterozygous females patients. Patients having the cardiac variant of Fabry's disease exhibit only left ventricular hypertrophy, while patients having the renal variant exhibit only kidney failure. Individuals affected by these variants show higher residual enzyme activity of α-galactosidase A than individuals affected by the classic form of Fabry's disease due to missense mutations of the GLA gene. The cerebrovascular involvement in Fabry disease is not rare in both adult hemizygotes and heterozygotes. Infarctions caused by the occlusions of small vessels involving mostly the vertebrobasilar region in approximately two-thirds of the cases, and that is associated with the deposition glycosphingolipids including GL-3 in the walls of these vessels. In Caucasian patients, elongated, ectatic, and tortuous vertebral and basilar arteries are frequently observed on MR angiography (MRA)s. Life-threatening megadolichobasilar anomaly with thrombosis has been identified in a large Hungarian family in which the family members share L16P mutation. On performing MRI, an increased signal intensity was observed in the pulvinar in T 1 -weighted images; this is the characteristic so-called ''pulvinar sign''. Enzyme replacement therapy has been approved in Japan since 2004 and 2007 for agalsidase β and agalsidase α, respectively. This treatment modestly improves the small-fiber neuropathy, hypohidrosis, hypertrophic cardiomyopathy

  13. Nailfold capillaroscopy: Specific features in Fabry disease.

    Science.gov (United States)

    Wasik, Jan S; Simon, Roger W; Meier, Thomas; Steinmann, Beat; Amann-Vesti, Beatrice R

    2009-01-01

    Fabry disease is a rare X-linked disorder caused by deficiency of alpha-galactosidase A. The metabolic defect results in the progressive accumulation of globotriaosylceramide within vascular cells leading to renal, cardiac and cerebrovascular manifestations. The aim of this study was to evaluate nailfold capillaroscopy as a non-invasive diagnostic tool in Fabry disease and to characterize morphological and functional changes of the capillaries in vivo. Twenty-five consecutive patients with Fabry disease (17 males) without enzyme-replacement therapy had been studied by fluorescence nailfold capillaroscopy. Macrocirculation of digital arteries was tested by digital pulse volume recording and patients had been asked about the presence of Raynaud phenomenon. Significant more bushy capillaries and clusters were present in Fabry patients (72%) compared to healthy controls (10%). No avascular fields had been seen, and in only one patient atypical architecture and in another one a giant capillary was present. Enhanced natrium-fluorescein diffusion into the pericapillary area has been observed in three male patients. Six patients (one female) reported Raynaud phenomenon of all fingers. In Fabry disease morphological and functional microangiopathy of nailfold capillaries is present. Furthermore, these new findings might explain, at least in part, the unusual high frequency of Raynaud phenomenon in Fabry patients, which has not been described so far. Our data suggest that capillaroscopy might be used as an additional non-invasive diagnostic tool for Fabry disease.

  14. Enzyme Replacement Therapy for Fabry Disease

    Directory of Open Access Journals (Sweden)

    Maria Dolores Sanchez-Niño PhD

    2016-11-01

    Full Text Available Fabry disease is a rare X-linked disease caused by the deficiency of α-galactosidase that leads to the accumulation of abnormal glycolipid. Untreated patients develop potentially lethal complications by age 30 to 50 years. Enzyme replacement therapy is the current standard of therapy for Fabry disease. Two formulations of recombinant human α-galactosidase A (agalsidase are available in most markets: agalsidase-α and agalsidase-β, allowing a choice of therapy. However, the US Food and Drug Administration rejected the application for commercialization of agalsidase-α. The main difference between the 2 enzymes is the dose. The label dose for agalsidase-α is 0.2 mg/kg/2 weeks, while the dose for agalsidase-β is 1.0 mg/kg/2 weeks. Recent evidence suggests a dose-dependent effect of enzyme replacement therapy and agalsidase-β is 1.0 mg/kg/2 weeks, which has been shown to reduce the occurrence of hard end points (severe renal and cardiac events, stroke, and death. In addition, patients with Fabry disease who have developed tissue injury should receive coadjuvant tissue protective therapy, together with enzyme replacement therapy, to limit nonspecific progression of the tissue injury. It is likely that in the near future, additional oral drugs become available to treat Fabry disease, such as chaperones or substrate reduction therapy.

  15. Hearing loss in children with Fabry disease

    NARCIS (Netherlands)

    Suntjens, E.; Dreschler, W. A.; Hess-Erga, J.; Skrunes, R.; Wijburg, F. A.; Linthorst, G. E.; Tøndel, C.; Biegstraaten, M.

    2017-01-01

    Background Hearing loss (HL) is a well-known feature of Fabry disease (FD). Its presence and characteristics have mainly been studied in adult patients, while only limited data are available on the presence and degree of HL in children with FD. This prompted us to study hearing sensitivity in

  16. Fabry disease, respiratory symptoms, and airway limitation

    DEFF Research Database (Denmark)

    Svensson, Camilla Kara; Feldt-Rasmussen, Ulla; Backer, Vibeke

    2015-01-01

    . The remaining 27 articles were relevant for this review. RESULTS: The current literature concerning lung manifestations describes various respiratory symptoms such as dyspnoea or shortness of breath, wheezing, and dry cough. These symptoms are often related to cardiac involvement in Fabry disease as respiratory...

  17. Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.

    Science.gov (United States)

    Auray-Blais, Christiane; Blais, Catherine-Marie; Ramaswami, Uma; Boutin, Michel; Germain, Dominique P; Dyack, Sarah; Bodamer, Olaf; Pintos-Morell, Guillem; Clarke, Joe T R; Bichet, Daniel G; Warnock, David G; Echevarria, Lucia; West, Michael L; Lavoie, Pamela

    2015-01-01

    Fabry disease is an X-linked lysosomal storage disorder affecting both males and females with tremendous genotypic/phenotypic variability. Concentrations of globotriaosylceramide (Gb3), globotriaosylsphingosine (lyso-Gb3)/related analogues were investigated in pediatric and adult Fabry cohorts. The aims of this study were to transfer and validate an HPLC-MS/MS methodology on a UPLC-MS/MS new generation platform, using an HPLC column, for urine analysis of treated and untreated pediatric and adult Fabry patients, to establish correlations between the excretion of Fabry biomarkers with gender, treatment, types of mutations, and to evaluate the biomarker reliability for early detection of pediatric Fabry patients. A UPLC-MS/MS was used for biomarker analysis. Reference values are presented for all biomarkers. Results show that gender strongly influences the excretion of each biomarker in the pediatric Fabry cohort, with females having lower urinary levels of all biomarkers. Urinary distribution of lyso-Gb3/related analogues in treated Fabry males was similar to the untreated and treated Fabry female groups in both children and adult cohorts. Children with the late-onset p.N215S mutation had normal urinary levels of Gb3, and lyso-Gb3 but abnormal levels of related analogues. In this study, Fabry males and most Fabry females would have been diagnosed using the urinary lyso-Gb3/related analogue profile. Copyright © 2014 Elsevier B.V. All rights reserved.

  18. Parkinson's disease prevalence in Fabry disease: A survey study

    Directory of Open Access Journals (Sweden)

    Adina H. Wise

    2018-03-01

    Full Text Available 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, 2.2%. Among probands older than 60, 8.3% (2/24 were diagnosed with PD. Using Kaplan Meier survival analysis, the age-specific risk of PD by age 70 was 11.1%. Family history was available on 72 Fabry families from the online study and 9 Fabry families from ISMMS. Among these 81 families, 6 (7.4% had one first degree relative who fit the criteria for a conservative diagnosis of PD. The results of this study suggest that there may be an increased risk of developing PD in individuals with GLA mutations, but these findings should be interpreted with caution given the limitations of the study design.

  19. Fabry Disease in Families With Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J

    2017-01-01

    BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B...... asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations...

  20. Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease

    International Nuclear Information System (INIS)

    Gruber, S.; Bogner, W.; Stadlbauer, A.; Krssak, M.; Bodamer, O.

    2011-01-01

    Objective: Fabry and Gaucher diseases are rare progressive inherited disorders of glycosphingolipid metabolism that affect multiple organ systems. The aim of this study was to investigate evidence for metabolic changes in the central nervous system involvement using proton magnetic resonance spectroscopic imaging. Methods: Seven Fabry and eight Gaucher patients were included into this study. A two-dimensional, spectroscopic imaging method with an ultra-short echo-time of 11 ms was used at a 3 T whole body magnet. Absolute metabolic values were retrieved using internal water scaling. Results were compared, with sex- and age-matched controls. Results: In contrast to previous findings, absolute and relative metabolite values of N-acetyl-aspartate (NAA) or NAA/Creatine (Cr), Cr, Choline (Cho) or Cho/Cr and myo-Inositol (mI) or mI/Cr revealed no, differences between Fabry and Gaucher Type 1 (GD1) patients and controls. Average values were, 10.22, 6.32, 2.15 and 5.39 mMol/kg wet weight for NAA, Cr, Cho and mI, respectively. In this study, we found significantly decreasing NAA/Cho with increasing age in all three groups (Fabry, GD1, patients and healthy controls) (between 5 and 8% per decade). Conclusions: There were no changes of the quantified metabolites detected by MRS in normal appearing white matter. This study shows the importance of sex- and age-matched controls.

  1. Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease

    Energy Technology Data Exchange (ETDEWEB)

    Gruber, S., E-mail: stephan@nmr.at [Department of Radiology, MR-Centre of Excellence, Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Bogner, W. [Department of Radiology, MR-Centre of Excellence, Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Stadlbauer, A. [MR Physics Group, Department of Radiology, Landesklinikum St. Poelten (Austria); Krssak, M. [Department of Radiology, MR-Centre of Excellence, Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Bodamer, O. [Department of Pediatrics, Medical University of Vienna (Austria)

    2011-08-15

    Objective: Fabry and Gaucher diseases are rare progressive inherited disorders of glycosphingolipid metabolism that affect multiple organ systems. The aim of this study was to investigate evidence for metabolic changes in the central nervous system involvement using proton magnetic resonance spectroscopic imaging. Methods: Seven Fabry and eight Gaucher patients were included into this study. A two-dimensional, spectroscopic imaging method with an ultra-short echo-time of 11 ms was used at a 3 T whole body magnet. Absolute metabolic values were retrieved using internal water scaling. Results were compared, with sex- and age-matched controls. Results: In contrast to previous findings, absolute and relative metabolite values of N-acetyl-aspartate (NAA) or NAA/Creatine (Cr), Cr, Choline (Cho) or Cho/Cr and myo-Inositol (mI) or mI/Cr revealed no, differences between Fabry and Gaucher Type 1 (GD1) patients and controls. Average values were, 10.22, 6.32, 2.15 and 5.39 mMol/kg wet weight for NAA, Cr, Cho and mI, respectively. In this study, we found significantly decreasing NAA/Cho with increasing age in all three groups (Fabry, GD1, patients and healthy controls) (between 5 and 8% per decade). Conclusions: There were no changes of the quantified metabolites detected by MRS in normal appearing white matter. This study shows the importance of sex- and age-matched controls.

  2. Fabry disease in children: a federal screening programme in Russia.

    Science.gov (United States)

    Namazova-Baranova, Leyla Seymurovna; Baranov, Alexander Alexandrovich; Pushkov, Aleksander Alekseevich; Savostyanov, Kirill Victorovich

    2017-10-01

    Our objective was to examine the prevalence of Fabry disease in Russian children with chronic pain in the distal limbs. This non-interventional, multi-centre study included children 2-18 years of age with chronic recurrent unilateral or bilateral pain, burning, or acroparesthesia in the hands or feet. The presence of Fabry disease was defined by abnormal alpha-galactosidase A activity in males or alpha-galactosidase gene (GLA) mutation in females. Among 214 patients (110 males), 84.1% had bilateral limb pain and 31.8% had unilateral limb pain recorded at some time point; 61 (28.5%) patients had a positive family history possibly associated with Fabry disease. Alpha-galactosidase A activity was within the normal range in all 109 of the male patients tested. One female patient had a GLA mutation (C937G > T) and alpha-galactosidase A activity within the normal range. We did not find definitive evidence of Fabry disease in these children with a history of chronic recurrent unilateral or bilateral limb pain or acroparesthesia. The presence of chronic limb pain does not appear to be highly predictive of a diagnosis of Fabry disease in Russian children and adolescents, suggesting that key early signs and symptoms of Fabry disease are not specific to the disease. What is Known: • Signs and symptoms of Fabry disease are seen in children < 10 years of age; pain in the distal limbs is a common early symptom. What is New: • Fabry disease was not diagnosed in this population of Russian children with a history of chronic limb pain. • The presence of acroparesthesia or chronic limb pain does not appear to be highly predictive of a diagnosis of Fabry disease in Russian children and adolescents, suggesting that these early symptoms of Fabry disease are not specific to the disease.

  3. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry

    NARCIS (Netherlands)

    Wanner, Christoph; Oliveira, João P.; Ortiz, Alberto; Mauer, Michael; Germain, Dominique P.; Linthorst, Gabor E.; Serra, Andreas L.; Maródi, László; Mignani, Renzo; Cianciaruso, Bruno; Vujkovac, Bojan; Lemay, Roberta; Beitner-Johnson, Dana; Waldek, Stephen; Warnock, David G.

    2010-01-01

    These analyses were designed to characterize renal disease progression in untreated adults with Fabry disease. Data from the Fabry Registry for 462 untreated adults (121 men and 341 women) who had at least two estimated GFR (eGFR) values over a span of ≥12 months before starting enzyme replacement

  4. Autonomic skin responses in females with Fabry disease

    DEFF Research Database (Denmark)

    Møller, Anette Torvin; Bach, Flemming W.; Feldt-Rasmussen, Ulla

    2009-01-01

    Fabry disease is a genetic lysosomal disorder with dysfunction of the lysosomal enzyme alpha-galactosidase A causing accumulation of glycolipids in multiple organs including the nervous system and with neuropathy as a prominent manifestation. Neurological symptoms include pain and autonomic...... dysfunction. This study examined peripheral autonomic nerve function in 19 female patients with Fabry disease and 19 sex and age-matched controls by measuring (1) sweat production following acetylcholine challenge; (2) the sympathetically mediated vasoconstrictor responses to inspiratory gasp, stress...

  5. Contribution of inflammatory pathways to Fabry disease pathogenesis.

    Science.gov (United States)

    Rozenfeld, Paula; Feriozzi, Sandro

    2017-11-01

    Lysosomal storage diseases are usually considered to be pathologies in which the passive deposition of unwanted materials leads to functional changes in lysosomes. Lysosomal deposition of unmetabolized glycolipid substrates stimulates the activation of pathogenic cascades, including immunological processes, and particularly the activation of inflammation. In lysosomal storage diseases, the inflammatory response is continuously being activated because the stimulus cannot be eliminated. Consequently, inflammation becomes a chronic process. Lysosomes play a role in many steps of the immune response. Leukocyte perturbation and over-expression of immune molecules have been reported in Fabry disease. Innate immunity is activated by signals originating from dendritic cells via interactions between toll-like receptors and globotriaosylceramide (Gb3) and/or globotriaosylsphingosine (lyso-Gb3). Evidence indicates that these glycolipids can activate toll-like receptors, thus triggering inflammation and fibrosis cascades. In the kidney, Gb3 deposition is associated with the increased release of transforming growth factor beta and with epithelial-to-mesenchymal cell transition, leading to the over-expression of pro-fibrotic molecules and to renal fibrosis. Interstitial fibrosis is also a typical feature of heart involvement in Fabry disease. Endomyocardial biopsies show infiltration of lymphocytes and macrophages, suggesting a role for inflammation in causing tissue damage. Inflammation is present in all tissues and may be associated with other potentially pathologic processes such as apoptosis, impaired autophagy, and increases in pro-oxidative molecules, which could all contribute synergistically to tissue damage. In Fabry disease, the activation of chronic inflammation over time leads to organ damage. Therefore, enzyme replacement therapy must be started early, before this process becomes irreversible. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights

  6. FabryScan: a screening tool for early detection of Fabry disease

    NARCIS (Netherlands)

    Arning, Kathrin; Naleschinski, Dennis; Maag, Rainer; Biegstraaten, Marieke; Kropp, Peter; Lorenzen, Jürgen; Hollak, Carla E. M.; van Schaik, Ivo N.; Harten, Pontus; Zeuner, Rainald A.; Binder, Andreas; Baron, Ralf

    2012-01-01

    Fabry disease, an X-linked lipid storage disorder, is associated early morbidity and mortality. Since enzyme replacement therapy is available, accurate detection of unrecognized cases is important. Characteristic early symptoms are recurrent episodes of burning and lancinating pain in the distal

  7. Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring

    Directory of Open Access Journals (Sweden)

    Hoffmann Björn

    2009-10-01

    Full Text Available Abstract Background In Fabry disease (α-galactosidase A deficiency accumulation of Globotriaosylceramide (Gb3 leads to progressive organ failure and premature death. The introduction of enzyme replacement therapy (ERT was the beginning of a new era in this disorder, and has prompted a broad range of research activities. This review aims to summarize recent developments and progress with high impact for Fabry disease. Methods A Pubmed analysis was performed using the search terms "Fabry disease", "Anderson-Fabry disease", "alpha-galactosidase A" and "Gb3". Of the given publications by 31st January 2009 only original articles recently published in peer reviewed journals were included for this review. Case reports were included only when they comprised a new aspect. In addition we included relevant conference abstracts when the results had not already been published as original articles. Results Apart from Gb3-accumulation cellular and organ specific damages may be related also to inflammatory and immunological consequences. It will be interesting whether this may lead to new therapeutic strategies in the treatment of Fabry disease. Since newborn screening is still difficult in Fabry disease, detection of patients in populations at risk is of great importance. Undiagnosed patients with Fabry disease may still be found in cohorts of subjects with renal diseases, cardiomyopathy and TIA or stroke. Efforts should be undertaken to identify these individuals and initialise ERT in order to hault disease progression. It has also been demonstrated that Gb3-accumulation leads to pre-clinical damages and it is believed that early treatment may be the only possibility so far to prevent irreversible organ damage.

  8. Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation.

    Science.gov (United States)

    Abe, A; Gregory, S; Lee, L; Killen, P D; Brady, R O; Kulkarni, A; Shayman, J A

    2000-06-01

    We used a potent inhibitor of glucosylceramide synthase to test whether substrate deprivation could lower globotriaosylceramide levels in alpha-galactosidase A (alpha-gal A) knockout mice, a model of Fabry disease. C57BL/6 mice treated twice daily for 3 days with D-threo-1-ethylendioxyphenyl-2-palmitoylamino-3-pyrrolidi no-propanol (D-t-EtDO-P4) showed a concentration-dependent decrement in glucosylceramide levels in kidney, liver, and spleen. A single intraperitoneal injection of D-t-EtDO-P4 resulted in a 55% reduction in renal glucosylceramide, consistent with rapid renal glucosylceramide metabolism. A concentration-dependent decrement in renal and hepatic globotriaosylceramide levels was observed in alpha-Gal A(-) males treated for 4 weeks with D-t-EtDO-P4. When 8-week-old alpha-Gal A(-) males were treated for 8 weeks with 10 mg/kg twice daily, renal globotriaosylceramide fell to below starting levels, consistent with an alpha-galactosidase A-independent salvage pathway for globotriaosylceramide degradation. Complications observed with another glucosylceramide synthase inhibitor, N-butyldeoxynojirimycin, including weight loss and acellularity of lymphatic organs, were not observed with D-t-EtDO-P4. These data suggest that Fabry disease may be amenable to substrate deprivation therapy.

  9. Cardiac Phenotype of Prehypertrophic Fabry Disease.

    Science.gov (United States)

    Nordin, Sabrina; Kozor, Rebecca; Baig, Shanat; Abdel-Gadir, Amna; Medina-Menacho, Katia; Rosmini, Stefania; Captur, Gabriella; Tchan, Michel; Geberhiwot, Tarekegn; Murphy, Elaine; Lachmann, Robin; Ramaswami, Uma; Edwards, Nicola C; Hughes, Derralynn; Steeds, Richard P; Moon, James C

    2018-06-01

    Fabry disease (FD) is a rare and treatable X-linked lysosomal storage disorder. Cardiac involvement determines outcomes; therefore, detecting early changes is important. Native T1 by cardiovascular magnetic resonance is low, reflecting sphingolipid storage. Early phenotype development is familiar in hypertrophic cardiomyopathy but unexplored in FD. We explored the prehypertrophic cardiac phenotype of FD and the role of storage. A prospective, international multicenter observational study of 100 left ventricular hypertrophy-negative FD patients (mean age: 39±15 years; 19% male) and 35 age- and sex-matched healthy volunteers (mean age: 40±14 years; 25% male) who underwent cardiovascular magnetic resonance, including native T1 and late gadolinium enhancement, and 12-lead ECG. In FD, 41% had a low native T1 using a single septal region of interest, but this increased to 59% using a second slice because early native T1 lowering was patchy. ECG abnormalities were present in 41% and twice as common with low native T1 (53% versus 24%; P =0.005). When native T1 was low, left ventricular maximum wall thickness, indexed mass, and ejection fraction were higher (maximum wall thickness 9±1.5 versus 8±1.4 mm, P gadolinium enhancement was more likely when native T1 was low (27% versus 6%; P =0.01). FD had higher maximal apical fractal dimensions compared with healthy volunteers (1.27±0.06 versus 1.24±0.04; P <0.005) and longer anterior mitral valve leaflets (23±2 mm versus 21±3 mm; P <0.005). There is a detectable prehypertrophic phenotype in FD consisting of storage (low native T1), structural, functional, and ECG changes. © 2018 The Authors.

  10. High-Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease.

    Science.gov (United States)

    Seydelmann, Nora; Liu, Dan; Krämer, Johannes; Drechsler, Christiane; Hu, Kai; Nordbeck, Peter; Schneider, Andreas; Störk, Stefan; Bijnens, Bart; Ertl, Georg; Wanner, Christoph; Weidemann, Frank

    2016-05-31

    High-sensitivity troponin (hs-TNT), a biomarker of myocardial damage, might be useful for assessing fibrosis in Fabry cardiomyopathy. We performed a prospective analysis of hs-TNT as a biomarker for myocardial changes in Fabry patients and a retrospective longitudinal follow-up study to assess longitudinal hs-TNT changes relative to fibrosis and cardiomyopathy progression. For the prospective analysis, hs-TNT from 75 consecutive patients with genetically confirmed Fabry disease was analyzed relative to typical Fabry-associated echocardiographic findings and total myocardial fibrosis as measured by late gadolinium enhancement (LE) on magnetic resonance imaging. Longitudinal data (3.9±2.0 years), including hs-TNT, LE, and echocardiographic findings from 58 Fabry patients, were retrospectively collected. Hs-TNT level positively correlated with LE (linear correlation coefficient, 0.72; odds ratio, 32.81 [95% CI, 3.56-302.59]; P=0.002); patients with elevated baseline hs-TNT (>14 ng/L) showed significantly increased LE (median: baseline, 1.9 [1.1-3.3] %; follow-up, 3.2 [2.3-4.9] %; PFabry disease and a qualified predictor of cardiomyopathy progression. Thus, hs-TNT could be helpful for staging and follow-up of Fabry patients. © 2016 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  11. Early Renal Involvement in a Girl with Classic Fabry Disease.

    Science.gov (United States)

    Perretta, Fernando; Antongiovanni, Norberto; Jaurretche, Sebastián

    2017-01-01

    Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood. Typical acroparesthesia in hands and feet, gastrointestinal symptoms, angiokeratomas, dyshidrosis, hearing loss, arrhythmias, hypertrophic cardiomyopathy, cerebrovascular accidents, and renal failure can be observed. Nephropathy is one of the major complications of Fabry disease. Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate, even in pediatric patients. A case of incipient renal involvement in a girl with classic Fabry disease is reported.

  12. Dysregulated autophagy contributes to podocyte damage in Fabry's disease.

    Directory of Open Access Journals (Sweden)

    Max C Liebau

    Full Text Available Fabry's disease results from an inborn error of glycosphingolipid metabolism that is due to deficiency of the lysosomal hydrolase α-galactosidase A. This X-linked defect results in the accumulation of enzyme substrates with terminally α-glycosidically bound galactose, mainly the neutral glycosphingolipid Globotriaosylceramide (Gb3 in various tissues, including the kidneys. Although end-stage renal disease is one of the most common causes of death in hemizygous males with Fabry's disease, the pathophysiology leading to proteinuria, hematuria, hypertension, and kidney failure is not well understood. Histological studies suggest that the accumulation of Gb3 in podocytes plays an important role in the pathogenesis of glomerular damage. However, due to the lack of appropriate animal or cellular models, podocyte damage in Fabry's disease could not be directly studied yet. As murine models are insufficient, a human model is needed. Here, we developed a human podocyte model of Fabry's disease by combining RNA interference technology with lentiviral transduction of human podocytes. Knockdown of α-galactosidase A expression resulted in diminished enzymatic activity and slowly progressive accumulation of intracellular Gb3. Interestingly, these changes were accompanied by an increase in autophagosomes as indicated by an increased abundance of LC3-II and a loss of mTOR kinase activity, a negative regulator of the autophagic machinery. These data suggest that dysregulated autophagy in α-galactosidase A-deficient podocytes may be the result of deficient mTOR kinase activity. This finding links the lysosomal enzymatic defect in Fabry's disease to deregulated autophagy pathways and provides a promising new direction for further studies on the pathomechanism of glomerular injury in Fabry patients.

  13. Enzyme replacement therapy in Fabry disease, towards individualized treatment

    NARCIS (Netherlands)

    Arends, M.

    2017-01-01

    Fabry disease is a very heterogeneous disorder for which expensive enzyme replacement therapy is available since more than 15 years. Because of the variety of symptoms and disease course, individual choices need to be made to improve the appropriate use of therapy. Supported by ZONWM, we have been

  14. Alpha..galactosidase A deficiency (Fabry's disease) in a black ...

    African Journals Online (AJOL)

    thelial, peri-epithelial and smooth-muscle cells of the cardiovascular .... nately it has not been possible to investigate the mother or sisters of ... E. P. Thomas for the use .... rience in renal transplantation for Fabry's disease Tramplam Proc. 1981 ...

  15. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat

    DEFF Research Database (Denmark)

    Germain, Dominique P; Hughes, Derralynn A; Nicholls, Kathleen

    2016-01-01

    BACKGROUND: Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms of α-galactosidase, increasing enzyme trafficking to lysosomes. METHODS: The...

  16. Three-dimensional face shape in Fabry disease

    NARCIS (Netherlands)

    Cox-Brinkman, Josanne; Vedder, Anouk; Hollak, Carla; Richfield, Linda; Mehta, Atul; Orteu, Kate; Wijburg, Frits; Hammond, Peter

    2007-01-01

    Facial dysmorphology is an important feature in several lysosomal storage disorders. Although in Fabry disease facial dysmorphism is not a prominent sign, minor facial abnormalities have been previously reported. By analysing three-dimensional images of faces, we quantified facial dysmorphology in a

  17. Fabry's Disease: Case Series and Review of Literature | Wani ...

    African Journals Online (AJOL)

    Fabry's disease is an X‑linked lysosomal storage disorder caused by a deficiency of alpha‑galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in vascular endothelial cells leading to cardiovascular, renal, gastrointestinal, neuropathic, lenticular, and dermatological manifestations. It is a rare ...

  18. Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.

    Science.gov (United States)

    Politei, Juan M; Bouhassira, Didier; Germain, Dominique P; Goizet, Cyril; Guerrero-Sola, Antonio; Hilz, Max J; Hutton, Elspeth J; Karaa, Amel; Liguori, Rocco; Üçeyler, Nurcan; Zeltzer, Lonnie K; Burlina, Alessandro

    2016-07-01

    Patients with Fabry disease (FD) characteristically develop peripheral neuropathy at an early age, with pain being a crucial symptom of underlying pathology. However, the diagnosis of pain is challenging due to the heterogeneous and nonspecific symptoms. Practical guidance on the diagnosis and management of pain in FD is needed. In 2014, experts met to discuss recent advances on this topic and update clinical guidance. Emerging disease-specific tools, including FabryScan, Fabry-specific Pediatric Health and Pain Questionnaire, and Würzburg Fabry Pain Questionnaire, and more general tools like the Total Symptom Score can aid diagnosis, characterization, and monitoring of pain in patients with FD. These tools can be complemented by more objective and quantifiable sensory testing. In male and female patients of any age, pain related to FD can be an early indication to start disease-specific enzyme replacement therapy before potentially irreversible organ damage to the kidneys, heart, or brain occurs. To improve treatment outcomes, pain should be diagnosed early in unrecognized or newly identified FD patients. Treatment should include: (a) enzyme replacement therapy controlling the progression of underlying pathology; (b) adjunctive, symptomatic pain management with analgesics for chronic neuropathic and acute nociceptive, and inflammatory or mixed pain; and (c) lifestyle modifications. © 2016 The Authors. CNS Neuroscience & Therapeutics published by John Wiley & Sons Ltd.

  19. Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation

    Directory of Open Access Journals (Sweden)

    K. Selthofer-Relatic

    2018-01-01

    Full Text Available Background. Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a that it is a multiorgan disease with wide variety of phenotypes, (b different timelines of presentation, (c gender differences, and (d possible coexistence with other comorbidities. Late-onset/cardiac type of presentation with minimal involvement of other organs can additionally make diagnosis difficult. Aim. To describe different cardiac manifestations at different time points in the course of the disease: (1 72-year-old female (echocardiography detection, heterozygote, significant left and mild right ventricular hypertrophy; (2 62-year-old male (echocardiography detection, hemizygote, left ventricular hypertrophy, implanted cardiac pacemaker, a performed percutaneous coronary intervention after myocardial infarction, degenerative medium degree aortic valve stenosis; (3 45-year-old female (asymptomatic/family screening, heterozygote, thickened mitral papillary muscle, mild left ventricular hypertrophy, first degree diastolic dysfunction; and (4 75-year-old female (symptomatic/family screening, heterozygote, cardiomyopathy with reduced left ventricular ejection fraction after heart surgery (mitral valve annuloplasty and plastic repair of the tricuspid valve. Conclusion. All patients have Anderson-Fabry disease but with different clinical presentations depending on the gender, the type of mutation, and the time of detection. All these features can make the patients’ profiles unique and delay the time of detection.

  20. The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study

    Directory of Open Access Journals (Sweden)

    Kultigin Turkmen

    2016-12-01

    Full Text Available Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fabry disease in CKD patients not receiving renal replacement therapy. Methods: This prospective study assessed α-galactosidase activity in dried blood spots in 313 stage 1-5 CKD patients, 167 males, between ages of 18-70 years whose etiology of CKD was unknown and were not receiving renal replacement therapy. The diagnosis was confirmed by GLA gene mutation analysis. Results: Three (all males of 313 CKD patients (0.95% were diagnosed of Fabry disease, for a prevalence in males of 1.80%. Family screening identified 8 aditional Fabry patients with CKD. Of a total of 11 Fabry patients, 7 were male and started enzyme replacement therapy and 4 were female. The most frequent manifestations in male patients were fatigue (100%, tinnitus, vertigo, acroparesthesia, hypohidrosis, cornea verticillata and angiokeratoma (all 85%, heat intolerance (71%, and abdominal pain (57%. The most frequent manifestations in female patients were fatigue and cornea verticillata (50%, and tinnitus, vertigo and angiokeratoma (25%. Three patients had severe episodic abdominal pain attacks and proteinuria, and were misdiagnosed as familial Mediterranean fever. Conclusions: The prevalence of Fabry disease in selected CKD patients is in the range found among renal replacement therapy patients, but the disease is diagnosed at an earlier, treatable stage. These data support the ERBP recommendation to screen for Fabry disease in patients with CKD of unknown origin.

  1. Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease.

    Directory of Open Access Journals (Sweden)

    John Marshall

    Full Text Available Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency in the activity of the lysosomal hydrolase α-galactosidase A (α-gal. This deficiency results in accumulation of the glycosphingolipid globotriaosylceramide (GL-3 in lysosomes. Endothelial cell storage of GL-3 frequently leads to kidney dysfunction, cardiac and cerebrovascular disease. The current treatment for Fabry disease is through infusions of recombinant α-gal (enzyme-replacement therapy; ERT. Although ERT can markedly reduce the lysosomal burden of GL-3 in endothelial cells, variability is seen in the clearance from several other cell types. This suggests that alternative and adjuvant therapies may be desirable. Use of glucosylceramide synthase inhibitors to abate the biosynthesis of glycosphingolipids (substrate reduction therapy, SRT has been shown to be effective at reducing substrate levels in the related glycosphingolipidosis, Gaucher disease. Here, we show that such an inhibitor (eliglustat tartrate, Genz-112638 was effective at lowering GL-3 accumulation in a mouse model of Fabry disease. Relative efficacy of SRT and ERT at reducing GL-3 levels in Fabry mouse tissues differed with SRT being more effective in the kidney, and ERT more efficacious in the heart and liver. Combination therapy with ERT and SRT provided the most complete clearance of GL-3 from all the tissues. Furthermore, treatment normalized urine volume and uromodulin levels and significantly delayed the loss of a nociceptive response. The differential efficacies of SRT and ERT in the different tissues indicate that the combination approach is both additive and complementary suggesting the possibility of an improved therapeutic paradigm in the management of Fabry disease.

  2. Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

    DEFF Research Database (Denmark)

    Havndrup, Ole; Christiansen, Michael; Stoevring, Birgitte

    2010-01-01

    AIMS: Fabry disease, an X-linked storage disorder caused by defective lysosomal enzyme alpha-galactosidase A activity, may resemble sarcomere-gene-associated hypertrophic cardiomyopathy (HCM). The 'cardiac variant' of Fabry disease which only affects the heart may be missed unless specifically te...... therapy, supports systematic testing for Fabry disease. Enzyme measurements are sufficient in men, but genetic testing is needed in women....

  3. Excessive Daytime Sleepiness Is a Common Symptom in Fabry Disease

    Directory of Open Access Journals (Sweden)

    Thomas Duning

    2009-07-01

    Full Text Available Fabry disease (FD is an X-linked lysosomal storage disorder characterized by a deficient activity of the enzyme α-galactosidase A, resulting in a vasculopathic involvement of various organ systems, e.g. cerebral structures. Marked cerebral vasculopathy with subsequent white matter lesions (WML are a frequent finding in FD patients. Recent studies discussed an association between cerebral white matter changes and sleep-related disturbances of breathing, which may lead to excessive daytime sleepiness (EDS. A 56-year-old Caucasian female FD patient with EDS was admitted to our sleep laboratory. Overnight polysomnography showed a Cheyne-Stokes respiration pattern with significant O2 desaturation. MR imaging revealed confluent WML including the brain stem, but no renal or cardiac involvement. We then evaluated the clinical data of 49 genetically proven FD patients (27 males; mean age 43 years from our FD centre. With a frequency of 68%, EDS exceeds the prevalence of other common symptoms of FD (angiokeratomas 61%; acroparaesthesia 51%; renal involvement 29%; cardiac involvement 27%, and the prevalence of chronic fatigue (48%. EDS was independently associated with the physical component summary of the SF-36 data (corrected R2 =–0.323, p 2 = –0.253, p < 0.001. We conclude that EDS is a common and underdiagnosed symptom in FD patients, accompanied by a significant impact on quality of life. EDS might be caused by central breathing disorders due to an affection of brain regions associated with respiratory control in FD.

  4. Continuous cardiac troponin I release in Fabry disease.

    Science.gov (United States)

    Feustel, Andreas; Hahn, Andreas; Schneider, Christian; Sieweke, Nicole; Franzen, Wolfgang; Gündüz, Dursun; Rolfs, Arndt; Tanislav, Christian

    2014-01-01

    Fabry disease (FD) is a rare lysosomal storage disorder also affecting the heart. The aims of this study were to determine the frequency of cardiac troponin I (cTNI) elevation, a sensitive parameter reflecting myocardial damage, in a smaller cohort of FD-patients, and to analyze whether persistent cTNI can be a suitable biomarker to assess cardiac dysfunction in FD. cTNI values were determined at least twice per year in 14 FD-patients (6 males and 8 females) regularly followed-up in our centre. The data were related to other parameters of heart function including cardiac magnetic resonance imaging (cMRI). Three patients (21%) without specific vascular risk factors other than FD had persistent cTNI-elevations (range 0.05-0.71 ng/ml, normal: gadolinium enhancement (LGE) in all three individuals with cTNI values ≥0.01, while none of the 11 patients with cTNI <0.01 showed a pathological enhancement (p<0.01). Two subjects with increased cTNI-values underwent coronary angiography, excluding relevant stenoses. A myocardial biopsy performed in one during this procedure demonstrated substantial accumulation of globotriaosylceramide (Gb3) in cardiomyocytes. Continuous cTNI elevation seems to occur in a substantial proportion of patients with FD. The high accordance with LGE, reflecting cardiac dysfunction, suggests that cTNI-elevation can be a useful laboratory parameter for assessing myocardial damage in FD.

  5. Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease.

    Directory of Open Access Journals (Sweden)

    Lukas Hofmann

    Full Text Available Fabry disease is an X-linked inherited lysosomal storage disorder with intracellular accumulation of globotriaosylceramide (Gb3 due to α-galactosidase A (α-Gal A deficiency. Fabry patients frequently report of anxiety, depression, and impaired cognitive function. We characterized affective and cognitive phenotype of male mice with α-Gal A deficiency (Fabry KO and compared results with those of age-matched male wildtype (WT littermates. Young (3 months and old (≥ 18 months mice were tested in the naïve state and after i.pl. injection of complete Freund`s adjuvant (CFA as an inflammatory pain model. We used the elevated plus maze (EPM, the light-dark box (LDB and the open field test (OF to investigate anxiety-like behavior. The forced swim test (FST and Morris water maze (MWM were applied to assess depressive-like and learning behavior. The EPM test revealed no intergroup difference for anxiety-like behavior in naïve young and old Fabry KO mice compared to WT littermates, except for longer time spent in open arms of the EPM for young WT mice compared to young Fabry KO mice (p<0.05. After CFA injection, young Fabry KO mice showed increased anxiety-like behavior compared to young WT littermates (p<0.05 and naïve young Fabry KO mice (p<0.05 in the EPM as reflected by shorter time spent in EPM open arms. There were no relevant differences in the LDB and the OF test, except for longer time spent in the center zone of the OF by young WT mice compared to young Fabry KO mice (p<0.05. Complementary to this, depression-like and learning behavior were not different between genotypes and age-groups, except for the expectedly lower memory performance in older age-groups compared to young mice. Our results indicate that genetic influences on affective and cognitive symptoms in FD may be of subordinate relevance, drawing attention to potential influences of environmental and epigenetic factors.

  6. Avascular necrosis of bilateral femoral heads in a patient with Fabry's disease.

    LENUS (Irish Health Repository)

    O'Neill, Francis

    2012-07-13

    The underlying cause of avascular necrosis (AVN) of the femoral head is often not apparent. We report the case of a 26 year old builder with a four month history of bilateral hip pain, and a diagnosis of bilateral femoral head avascular necrosis. Fabry\\'s disease was identified as the probable cause. Since 2001, enzyme replacement therapy for Fabry\\'s disease has become available, with a potential to influence the disease process, and this is of potential importance to clinicians treating AVN.

  7. Compromiso cardiovascular en la enfermedad de Fabry Cardiovascular involvement in Fabry disease

    Directory of Open Access Journals (Sweden)

    Ana M Barón O

    2008-06-01

    Full Text Available La enfermedad de Fabry es una patología de origen genético que se produce por el depósito, a nivel lisosomal, de diferentes productos como globotriazolceramida, glicoesfingolípidos neurales y diagalactosilceramida a nivel sistémico, como consecuencia de la actividad deficiente de la enzima alfa-galactosidasa A. Las manifestaciones clínicas se inician desde la infancia pero son sutiles y suelen confundirse con otras patologías, razón por la cual en la mayoría de los casos la enfermedad se detecta en grados avanzados. En los adultos los órganos más afectados son corazón, riñones y cerebro. El compromiso cardiaco es de gran importancia por tratarse de una de las principales causas de morbi-mortalidad. El depósito de estas moléculas ocurre en todos sus componentes celulares. Genera hipertrofia e isquemia y remodelación miocárdica, o ambas. En la actualidad existe tratamiento específico con agalasidasa A y B recombinante, con el cual se logra una disminución en los depósitos lisosomales. Se recomienda aumentar la vigilancia de la enfermedad para detectar los casos e iniciar el tratamiento lo más temprano posible.Fabry disease is a genetic condition that causes lysosomal storage of products like glotriaosylceramide, neural glycosphingolipids and diagalactosylceramide, as a consequence of alpha-galactosidase A enzyme deficiency. Clinical manifestations begin in childhood, but they are subtle, and can mimic other pathologies, delaying the diagnosis until the second or third decade of life, when the disease is in an advanced stage. In adults the most affected organs are heart, kidneys and brain. Cardiac involvement is one of the most important causes of morbidity and mortality. Deposits of these molecules occur in every component of the heart, leading to hypertrophy, ischemia and myocardial remodeling. Nowadays there is specific enzyme replacement therapy with recombinant agalacidase A and B that decreases lysosomal deposits and

  8. Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey

    NARCIS (Netherlands)

    Hughes, Derralynn A.; Barba Romero, Miguel-Ángel; Hollak, Carla E. M.; Giugliani, Roberto; Deegan, Patrick B.

    2011-01-01

    Fabry disease (α-galactosidase A deficiency) is an X-linked disorder. Women who are heterozygous for disease-causing mutations often manifest signs and symptoms of Fabry disease, but most studies of the effects of enzyme replacement therapy (ERT) have included only men. To date, no direct comparison

  9. Myocardial lipid content in Fabry disease: a combined 1H-MR spectroscopy and MR imaging study at 3 Tesla.

    Science.gov (United States)

    Petritsch, B; Köstler, H; Weng, A M; Horn, M; Gassenmaier, T; Kunz, A S; Weidemann, F; Wanner, C; Bley, T A; Beer, M

    2016-10-28

    Fabry disease is characterized by a progressive deposition of sphingolipids in different organ systems, whereby cardiac involvement leads to death. We hypothesize that lysosomal storage of sphingolipids in the heart as occurring in Fabry disease does not reflect in higher cardiac lipid concentrations detectable by 1 H magnetic resonance spectroscopy (MRS) at 3 Tesla. Myocardial lipid content was quantified in vivo by 1 H-MRS in 30 patients (12 male, 18 female; 18 patients treated with enzyme replacement therapy) with genetically proven Fabry disease and in 30 healthy controls. The study protocol combined 1 H-MRS with cardiac cine imaging and LGE MRI in a single examination. Myocardial lipid content was not significantly elevated in Fabry disease (p = 0.225). Left ventricular (LV) mass was significantly higher in patients suffering from Fabry disease compared to controls (p = 0.019). Comparison of patients without signs of myocardial fibrosis in MRI (LGE negative; n = 12) to patients with signs of fibrosis (LGE positive; n = 18) revealed similar myocardial lipid content in both groups (p > 0.05), while the latter showed a trend towards elevated LV mass (p = 0.076). This study demonstrates the potential of lipid metabolic investigation embedded in a comprehensive examination of cardiac morphology and function in Fabry disease. There was no evidence that lysosomal storage of sphingolipids influences cardiac lipid content as measured by 1 H-MRS. Finally, the authors share the opinion that a comprehensive cardiac examination including three subsections (LGE; 1 H-MRS; T 1 mapping), could hold the highest potential for the final assessment of early and late myocardial changes in Fabry disease.

  10. Lipid profile in adult patients with Fabry disease - Ten-year follow up

    Directory of Open Access Journals (Sweden)

    Karolina M. Stepien

    2017-12-01

    Conclusion: Adult patients with Fabry disease have remarkably elevated HDL-cholesterol and as a result, elevated total cholesterol. It is possible that elevated HDL-cholesterol has a cardioprotective effect in patients with this condition. Long term ERT does not have a significant impact on lipid profile in female and male population with Fabry disease.

  11. Teenager male with burning pain in extremities--suspect Fabry disease, 2 case reports.

    Science.gov (United States)

    Patil, Rajesh B; Joglekar, V K

    2014-01-01

    We present 2 cases of teenager males presented with burning pain in extremities and turned out to be cases of Fabry disease.The purpose of presenting this case is to highlight the fact that suspicion of Fabry disease in patients presenting with these symptoms will lead to early diagnosis and treatment of this condition before occurrences of complications. A 14-year-old male presented with severe burning pain in both hands and feet since last 4 yrs which persisted despite consumption of painkillers and becoming more disabling and without having any family history for such condition. On general examination patient had small reddish coloured lesions around the umbilicus, appearing like angiokeratomas. Skin biopsy confirmed the lesion. On enzyme assay his alpha galactosidase activity found to be '0' nmol/hr/mg of protein, confirming his diagnosis. Patient's creatinine and 2 D ECHO were normal and urine had 1+ proteinuria. Patient started on carbamazepine tablets for pain and referred to higher centre for genetic diagnosis and enzyme replacement therapy. CASE REPORT 2: An 18-year-old male referred to our hospital by general practitioner for fatigue and pedal oedema with deranged renal function tests. On history taking patient gave history of severe burning pain in both hands and feet since age of 9 yrs. Patient's general examination revealed hypertension with pallor, pedal oedema along with angiokeratomas in bathing suit distribution. Patient's ultrasonography of kidney revealed bilaterally normal sized kidneys with altered echotexture and urine examination showed fine granular foamy cells with sub nephrotic range proteinuria. 2 D ECHO revealed concentric left ventricular hypertrophy. Skin biopsy report supported the diagnosis of Fabry disease. Patient advised to undergo renal biopsy to confirm Fabry nephropathy but patient denied any further diagnostic workup for nephropathy or Fabry disease. Patient started on conservative treatment and carbamazepine in renal dose

  12. Enfermedad de Fabry: Comunicación de ocho casos Fabry disease: Report of eight cases

    Directory of Open Access Journals (Sweden)

    M Palombo

    2011-12-01

    Full Text Available La Enfermedad de Fabry (EF constituye una alteración hereditaria del metabolismo de los glicoesfingolípidos, debida a la deficiencia parcial o completa de la enzima alfa-galactosidasa A. Es una enfermedad de transmisión genética ligada a X, que afecta universalmente a todas las etnias humanas con una incidencia comunicada de 1 cada 100.000 nacimientos, aunque es probable que esta cifra subestime la real prevalencia de la enfermedad, especialmente por el gran número de casos no diagnosticados. La EF se manifiesta en su forma más florida, en varones homocigotas que carecen completamente de actividad alfa-galactosidasa A, provocando una miríada de alteraciones, incluyendo anomalías renales (proteinuria progresiva e insuficiencia renal, cardiovasculares (cardiopatías, arritmias, accidentes cerebrovasculares, neurológicas (dolor acral y abdominal, y cocleo-vestibulares, entre las más importantes. Sin embargo, la afectación cutánea constituye la alteración más específica de la enfermedad y es en general, la que conduce a la sospecha diagnóstica. La EF no tratada reduce francamente la expectativa de vida de acuerdo a la severidad de la afectación renal y cardiovascular, si bien la terapia con reemplazo enzimático puede modificar e incluso detener el curso de la enfermedad. En 2010, una paciente de 28 años oriunda de la Provincia de Santa Fe, consultó porangioqueratomas, que condujeron al diagnóstico de enfermedad de Fabry. Desde entonces hemos estudiado y tratado a toda la familia, con ocho casos confirmados a la fecha y otros tantos en evaluación.Fabry disease (Online Mendelian Inheritance in Man No. 301500 is an X-linked inherited condition due to absence or reduction of ɑ galactosidase activity in lysosomes that results in accumulation of globotriaosylceramide and related neutral glycosphingolipids (storage disorder. It is estimated to occur in 1 in 40.000 to 117.000 live male births, although a more recent screening study in

  13. Continuous cardiac troponin I release in Fabry disease.

    Directory of Open Access Journals (Sweden)

    Andreas Feustel

    Full Text Available Fabry disease (FD is a rare lysosomal storage disorder also affecting the heart. The aims of this study were to determine the frequency of cardiac troponin I (cTNI elevation, a sensitive parameter reflecting myocardial damage, in a smaller cohort of FD-patients, and to analyze whether persistent cTNI can be a suitable biomarker to assess cardiac dysfunction in FD.cTNI values were determined at least twice per year in 14 FD-patients (6 males and 8 females regularly followed-up in our centre. The data were related to other parameters of heart function including cardiac magnetic resonance imaging (cMRI.Three patients (21% without specific vascular risk factors other than FD had persistent cTNI-elevations (range 0.05-0.71 ng/ml, normal: <0.01. cMRI disclosed late gadolinium enhancement (LGE in all three individuals with cTNI values ≥0.01, while none of the 11 patients with cTNI <0.01 showed a pathological enhancement (p<0.01. Two subjects with increased cTNI-values underwent coronary angiography, excluding relevant stenoses. A myocardial biopsy performed in one during this procedure demonstrated substantial accumulation of globotriaosylceramide (Gb3 in cardiomyocytes.Continuous cTNI elevation seems to occur in a substantial proportion of patients with FD. The high accordance with LGE, reflecting cardiac dysfunction, suggests that cTNI-elevation can be a useful laboratory parameter for assessing myocardial damage in FD.

  14. Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

    Energy Technology Data Exchange (ETDEWEB)

    Baptista, Ana, E-mail: baptista-ana@hotmail.com; Magalhães, Pedro; Leão, Sílvia; Carvalho, Sofia; Mateus, Pedro; Moreira, Ilídio [Centro Hospitalar de Trás-os-Montes e Alto Douro, Unidade de Vila Real (Portugal)

    2015-08-15

    Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy. The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m{sup 2} for women or ≥ 116 g/m{sup 2} for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased. A total of 47 patients with a mean left ventricular mass index of 141.1 g/m{sup 2} (± 28.5; 99.2 to 228.5 g/m{sup 2}] were included. Most of the patients were females (51.1%). Nine (19.1%) showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation. In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5)

  15. Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

    International Nuclear Information System (INIS)

    Baptista, Ana; Magalhães, Pedro; Leão, Sílvia; Carvalho, Sofia; Mateus, Pedro; Moreira, Ilídio

    2015-01-01

    Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy. The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m 2 for women or ≥ 116 g/m 2 for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased. A total of 47 patients with a mean left ventricular mass index of 141.1 g/m 2 (± 28.5; 99.2 to 228.5 g/m 2 ] were included. Most of the patients were females (51.1%). Nine (19.1%) showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation. In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5)

  16. Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

    Directory of Open Access Journals (Sweden)

    Ana Baptista

    2015-01-01

    Full Text Available Abstract Background: Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. Objective: To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy. Methods: The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m2 for women or ≥ 116 g/m2 for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased. Results: A total of 47 patients with a mean left ventricular mass index of 141.1 g/m2 (± 28.5; 99.2 to 228.5 g/m2] were included. Most of the patients were females (51.1%. Nine (19.1% showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5, a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation. Conclusion: In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5.

  17. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease

    DEFF Research Database (Denmark)

    Biegstraaten, Marieke; Arngrímsson, Reynir; Barbey, Frederic

    2015-01-01

    INTRODUCTION: Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administration is burdensome and expensive, appropriate use is mandatory. We aimed ...

  18. Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease.

    Science.gov (United States)

    Kim, Ji-Hoon; Kim, Gee-Hee; Park, Hoon-Suk; Choi, Jin-A; Bae, Jung-Min; Cho, Uiju

    2017-03-01

    We report a new α-Galactosidase A (αGal-A) mutation in a 39-year-old Korean born, male Fabry disease patient. Fabry disease is a devastating, progressive inborn error of metabolism caused by X-linked genetic mutations. In this case, the first clinical symptom to occur was in childhood consisting of a burning pain originating in the extremities then radiating inwards to the limbs. This patient also stated to have ringing in his ears, angiokeratomas on his trunk, and cornea verticillata. He visited an outpatient cardiologist due to intermittent and atypical chest discomfort at the age of 39. Electrocardiographic and echocardiographic examination showed left ventricular hypertrophy. A physical examination revealed proteinuria without hematuria. The patient's plasma αGal-A activity was markedly lower than the mean value of the controls. After genetic counseling and obtaining written informed consent, we identified one hemizygous mutation in exon 4 of galactosidase alpha, c.617T>C (p.Leu206 Pro). He was eventually diagnosed as having Fabry disease.

  19. Infrared imaging microscopy of bone: illustrations from a mouse model of Fabry disease.

    Science.gov (United States)

    Boskey, Adele L; Goldberg, Michel; Kulkarni, Ashok; Gomez, Santiago

    2006-07-01

    Bone is a complex tissue whose composition and properties vary with age, sex, diet, tissue type, health and disease. In this review, we demonstrate how infrared spectroscopy and infrared spectroscopic imaging can be applied to the study of these variations. A specific example of mice with Fabry disease (a lipid storage disease) is presented in which it is demonstrated that the bones of these young animals, while showing typical spatial variation in mineral content, mineral crystal size, and collagen maturity, do not differ from the bones of age- and sex-matched wild type animals.

  20. Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke.

    Science.gov (United States)

    Dubuc, Véronique; Moore, David F; Gioia, Laura C; Saposnik, Gustavo; Selchen, Daniel; Lanthier, Sylvain

    2013-11-01

    A German study diagnosed 4% of young cryptogenic ischemic stroke patients with Fabry disease, an X-linked lysosomal storage disease caused by mutations in the alpha-galactosidase A (α-GAL-A) gene resulting in an accumulation of glycosphingolipids. A lower prevalence was found in other geographic regions. To determine the prevalence of Fabry disease in a Canadian population of young cryptogenic ischemic stroke patients. Patients with cryptogenic ischemic stroke at age 16-55 were retrospectively identified in our institutional stroke database and underwent a focused clinical evaluation. We sequenced the α-GAL-A gene and measured the levels of blood globotriaosylsphingosine in subjects with mutations of undetermined pathogenicity. Fabry disease was diagnosed in patients with pathogenic mutations or increased levels of blood globotriaosylsphingosine. Ninety-three of 100 study subjects had normal α-GAL-A gene polymorphisms. Seven had mutations of undetermined pathogenicity, including one with increased globotriaosylsphingosine (prevalence, 1%; 95% confidence interval, ischemic stroke presentation as the first clinical manifestation of Fabry disease. Both Fabry patients experienced recurrent ischemic stroke. Fabry disease accounts for a small proportion of young Canadians with cryptogenic ischemic stroke. Identification of Fabry biomarkers remains a research priority to delineate stroke patients disserving routine screening. Copyright © 2013 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  1. Metabolomic Discovery of Novel Urinary Galabiosylceramide Analogs as Fabry Disease Biomarkers

    Science.gov (United States)

    Boutin, Michel; Auray-Blais, Christiane

    2015-03-01

    Fabry disease is an X-linked, complex, multisystemic lysosomal storage disorder presenting marked phenotypic and genotypic variability among affected male and female patients. Glycosphingolipids, mainly globotriaosylceramide (Gb3) isoforms/analogs, globotriaosylsphingosine (lyso-Gb3) and analogs, as well as galabiosylceramide (Ga2) isoforms/analogs accumulate in the vascular endothelium, nerves, cardiomyocytes, renal glomerular and tubular epithelial cells, and biological fluids. The search for biomarkers reflecting disease severity and progression is still on-going. A metabolomic study using quadrupole time-of-flight mass spectrometry has revealed 22 galabiosylceramide isoforms/analogs in urine of untreated Fabry patients classified in seven groups according to their chemical structure: (1) Saturated fatty acid; (2) one extra double bond; (3) two extra double bonds; (4) hydroxylated saturated fatty acid; (5) hydroxylated fatty acid and one extra double bond; (6) hydrated sphingosine and hydroxylated fatty acid; (7) methylated amide linkage. Relative quantification of both Ga2 and Gb3 isoforms/analogs was performed. All these biomarkers are significantly more abundant in urine samples from untreated Fabry males compared with healthy male controls. A significant amount of Ga2 isoforms/analogs, accounting for 18% of all glycosphingolipids analyzed (Ga2 + Gb3 and respective isoforms/analogs), were present in urine of Fabry patients. Gb3 isoforms containing saturated fatty acids are the most abundant (60.9%) compared with 26.3% for Ga2. A comparison between Ga2 isoforms/analogs and their Gb3 counterparts also showed that the proportion of analogs with hydroxylated fatty acids is significantly greater for Ga2 (35.8%) compared with Gb3 (1.9%). These results suggest different biological pathways involved in the synthesis and/or degradation of Gb3 and Ga2 metabolites.

  2. Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.

    Science.gov (United States)

    Yeniçerioğlu, Yavuz; Akdam, Hakan; Dursun, Belda; Alp, Alper; Sağlam Eyiler, Funda; Akın, Davut; Gün, Yelda; Hüddam, Bülent; Batmazoğlu, Mehmet; Gibyeli Genek, Dilek; Pirinççi, Serhat; Ersoy, İsmail Rıfkı; Üzüm, Atilla; Soypaçacı, Zeki; Tanrısev, Mehmet; Çolak, Hülya; Demiral Sezer, Sibel; Bozkurt, Gökay; Akyıldız, Utku Oğan; Akyüz Ünsal, Ayşe İpek; Ünübol, Mustafa; Uslu, Meltem; Eryılmaz, Ufuk; Günel, Ceren; Meteoğlu, İbrahim; Yavaşoğlu, İrfan; Ünsal, Alparslan; Akar, Harun; Okyay, Pınar

    2017-11-01

    Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry's disease in chronic kidney disease. The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 μmol/L/h. A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3 ± 15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60 mL/min/1.73 m 2 , 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients' α-Gal A enzyme was detected as 2.93 ± 1.92 μmol/L/h. 152 patients had low levels of α-Gal A enzyme activity (≤1.2 μmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry's disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female). Fabry's disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry's disease.

  3. Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis

    NARCIS (Netherlands)

    van der Tol, Linda; Svarstad, Einar; Ortiz, Alberto; Tøndel, Camilla; Oliveira, João Paulo; Vogt, Liffert; Waldek, Stephen; Hughes, Derralynn A.; Lachmann, Robin H.; Terryn, Wim; Hollak, Carla E.; Florquin, Sandrine; van den Bergh Weerman, Marius A.; Wanner, Christoph; West, Michael L.; Biegstraaten, Marieke; Linthorst, Gabor E.

    2015-01-01

    Background and objectives: Screening for Fabry disease (FD), an X-linked lysosomal storage disorder, reveals a significant number of individuals with a genetic variant of unknown significance without classical FD manifestations; these variants in the a-galactosidase A gene often result in a high

  4. Neuro-otological and peripheral nerve involvement in Fabry disease

    Directory of Open Access Journals (Sweden)

    Sergio Carmona

    2017-07-01

    Full Text Available Fabry disease (FD is an X-linked lysosomal storage disease, with multisystemic glycosphingolipids deposits. Neuro-otological involvement leading to hearing loss and vestibular dysfunctions has been described, but there is limited information about the frequency, site of lesion, or the relationship with peripheral neuropathy. The aim was to evaluate the presence of auditory and vestibular symptoms, and assess neurophysiological involvement of the VIII cranial nerve, correlating these findings with clinical and neurophysiological features of peripheral neuropathy. We studied 36 patients with FD with a complete neurological and neuro-otological evaluation including nerve conduction studies, quantitative sensory testing (to evaluate small fiber by warm and cold threshold detection and cold and heat pain, vestibular evoked myogenic potentials, videonistagmography, audiometry and brainstem auditory evoked potentials. Neuro-otologic symptoms included hearing loss (22.2%, vertigo (27.8% or both (25%. An involvement of either cochlear or vestibular function was identified in most patients (75%. In 70% of our patients the involvement of both cochlear and vestibular function could not be explained by a neural or vascular mechanism. Small fiber neuropathy was identified in 77.7%. There were no significant associations between neurootological and QST abnormalities. Neuro-otologic involvement is frequent and most likely under-recognized in patients with FD. It lacks a specific neural or vascular pattern, suggesting multi-systemic, end organ damage. Small fiber neuropathy is an earlier manifestation of FD, but there is no correlation between the development of neuropathy and neuro-otological abnormalities.

  5. Functional and structural nerve fiber findings in heterozygote patients with Fabry disease

    DEFF Research Database (Denmark)

    Torvin, Moller A.; Winther, Bach F.; Feldt-Rasmussen, U.

    2009-01-01

    recently disease manifestations in female carriers of Fabry disease have been questioned. To explore the frequency of symptoms and the functional and structural involvement of the nervous system in female patients we examined the presence of pain, manifestations of peripheral neuropathy and nerve density......Fabry disease is an X-linked inherited lysosomal disorder with dysfunction of the lysosomal enzyme alpha-galactosidase A causing accumulation of glycolipids in multiple organs including the nervous system. Pain and somatosensory disturbances are prominent manifestations of this disease. Until...

  6. Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

    NARCIS (Netherlands)

    Rombach, Saskia M.; Smid, Bouwien E.; Bouwman, Machtelt G.; Linthorst, Gabor E.; Dijkgraaf, Marcel G. W.; Hollak, Carla E. M.

    2013-01-01

    Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with α-galactosidase A (enzyme replacement therapy, ERT) stabilises disease in some patients, but long term effectiveness

  7. Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease

    DEFF Research Database (Denmark)

    Loeb, Josefine; Feldt-Rasmussen, Ulla; Madsen, Christoffer Valdorff

    2018-01-01

    Fabry disease is a rare progressive X-linked lysosomal storage disorder which leads to neuropathic pain, organ dysfunction and cerebral pathology. Few studies have investigated cognitive impairment in Fabry disease and these previous studies are difficult to compare due to heterogeneous methodolo......Fabry disease is a rare progressive X-linked lysosomal storage disorder which leads to neuropathic pain, organ dysfunction and cerebral pathology. Few studies have investigated cognitive impairment in Fabry disease and these previous studies are difficult to compare due to heterogeneous...... methodological designs and small cohorts. The objective was to investigate the frequency of cognitive impairment in the Danish nationwide cohort of Fabry patients. Further, we examined if subjective cognitive complaints were associated with objective cognitive performances in this patient group....... Neuropsychological tests (17 measures) and evaluation of subjective complaints with the Perceived Deficits Questionnaire (PDQ) were applied in 41 of 63 patients. According to an a priori definition, 12 patients (29.3%) were cognitively impaired. Tests tapping psychomotor speed, attention and executive functions had...

  8. Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR.

    Science.gov (United States)

    Kozor, Rebecca; Grieve, Stuart M; Tchan, Michel C; Callaghan, Fraser; Hamilton-Craig, Christian; Denaro, Charles; Moon, James C; Figtree, Gemma A

    2016-02-15

    Cardiac magnetic resonance (CMR) has the potential to provide early detection of cardiac involvement in Fabry disease. We aimed to gain further insight into this by assessing a cohort of Fabry patients using CMR. Fifty genotype-positive Fabry subjects (age 45±2 years; 50% male) referred for CMR and 39 matched controls (age 40±2 years; 59% male) were recruited. Patients had a mean Mainz severity score index of 15±2 (range 0-46), reflecting an overall mild degree of disease severity. Compared with controls, Fabry subjects had a 34% greater left ventricular mass (LVM) index (82±5 vs 61±2 g/m(2), p=0.001) and had a significantly greater papillary muscle contribution to total LVM (13±1 vs 6±0.5%, pgadolinium enhancement (LGE) was present in 15 Fabry subjects (9/21 males and 6/23 females). The most common site for LGE was the basal inferolateral wall (93%, 14/15). There was a positive association between LVM index and LGE. Despite this, there were two males and three females with no LVH that displayed LGE. Of Fabry subjects who were not on enzyme replacement therapy at enrolment (n=28), six were reclassified as having cardiac involvement (four LVH-negative/LGE-positive, one LVH-positive/LGE-positive and one LVH-positive/LGE-negative). CMR was able to detect cardiac involvement in 48% of this Fabry cohort, despite the overall mild disease phenotype of the cohort. Of those not on ERT, 21% were reclassified as having cardiac involvement allowing improved risk stratification and targeting of therapy. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  9. Fabry disease: the importance of the enzyme replacement therapy (TRE, treating quickly and efficiently

    Directory of Open Access Journals (Sweden)

    Juan Manuel Politei

    2014-06-01

    Full Text Available Fabry Disease is a lysosomal disorder due to the absence or deficiency of the Alpha galactosidase A enzyme that causes a pathological accumulation of glycosphingolipids mainly in the endothelial cells, vascular smooth muscle cells and podocytes among others. Enzyme replacement therapy is the only option for a specific treatment at present. Increasing knowledge of the physiopathological mechanisms has changed the management of the disease and above all, when treatment should begin. At present, beginning treatment at an early age seems to be a way of preventing and in some cases reverting some of the signs and symptoms of Fabry disease.

  10. Atypical Distribution of Late Gadolinium Enhancement of the Left Ventricle on Cardiac Magnetic Resonance in Classical Anderson-Fabry Disease

    OpenAIRE

    Kasuya, Shusuke; Suzuki, Masayo; Inaoka, Tsutomu; Odashima, Masayuki; Nakatsuka, Tomoya; Ishikawa, Rumiko; Tokuyama, Wataru; Terada, Hitoshi

    2016-01-01

    Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. Approximately 50% of patients with AFD may have cardiac involvement. Gadolinium-enhanced cardiac magnetic resonance (CMR) is useful for the diagnosis of cardiac involvement of AFD by recognizing typical late gadolinium enhancement (LGE) patterns. We report a 48-year-old man with cardiac involvement in classical AFD, showing atypical distribution of the LGE at the mid-lateral...

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

    NARCIS (Netherlands)

    Warnock, David G.; Ortiz, Alberto; Mauer, Michael; Linthorst, Gabor E.; Oliveira, João P.; Serra, Andreas L.; Maródi, László; Mignani, Renzo; Vujkovac, Bojan; Beitner-Johnson, Dana; Lemay, Roberta; Cole, J. Alexander; Svarstad, Einar; Waldek, Stephen; Germain, Dominique P.; Wanner, Christoph

    2012-01-01

    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

  12. Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rate

    NARCIS (Netherlands)

    Tøndel, Camilla; Ramaswami, Uma; Aakre, Kristin Moberg; Wijburg, Frits; Bouwman, Machtelt; Svarstad, Einar

    2010-01-01

    Studies on renal function in children with Fabry disease have mainly been done using estimated creatinine-based glomerular filtration rate (GFR). The aim of this study was to compare estimated creatinine-based GFR (eGFR) with measured GFR (mGFR) in children with Fabry disease and normal renal

  13. Enzyme replacement therapy for Fabry disease: some answers but more questions

    Directory of Open Access Journals (Sweden)

    Majid Alfadhel

    2011-02-01

    Full Text Available Majid Alfadhel1, Sandra Sirrs21Division of Biochemical Diseases, Department of Paediatrics, BC Children’s and Women’s Hospital, University of British Columbia, Vancouver, BC, Canada; 2Adult Metabolic Diseases Clinic, Division of Endocrinology, Department of Medicine, Vancouver Hospital and Health Sciences Centre, University of British Columbia, Vancouver, BC, CanadaAbstract: Fabry disease (FD is a multisystem, X-linked disorder of glycosphingolipid metabolism caused by enzyme deficiency of α-galactosidase A. Affected patients have symptoms including acroparesthesias, angiokeratomas, and hypohidrosis. More serious manifestations include debilitating pain and gastrointestinal symptoms, proteinuria and gradual deterioration of renal function leading to end-stage renal disease, hypertrophic cardiomyopathy, and stroke. Heterozygous females may have symptoms as severe as males with the classic phenotype. Before 2001, treatment of patients with FD was supportive. The successful development of enzyme replacement therapy (ERT has been a great advancement in the treatment of patients with FD and can stabilize renal function and cardiac size, as well as improve pain and quality of life of patients with FD. In this review, we have provided a critical appraisal of the literature on the effects of ERT for FD. This analysis shows that data available on the treatment of FD are often derived from studies which are not controlled, rely on surrogate markers, and are of insufficient power to detect differences on hard clinical endpoints. Further studies of higher quality are needed to answer the questions that remain concerning the efficacy of ERT for FD.Keywords: Fabry disease, agalsidase α, agalsidase β, Replagal, Fabrazyme, critical appraisal, evidence-based medicine

  14. The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease

    DEFF Research Database (Denmark)

    Hasholt, Lis; Ballegaard, Martin; Bundgaard, Henning

    2017-01-01

    Fabry disease is an X- linked inherited lysosomal storage disease caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A). The possible pathological significance of the D313Y variant in the GLA gene has not been verified and it may be a Fabry variant. Our......, and the presence in Fabry females did not significantly enhance the phenotype of a known causative mutation in the GLA gene (G271S). Our findings indicate that the D313Y variant is not causative to nor enhancing Fabry disease phenotype. The D313Y variant in the GLA gene was not disease causative in 2 Danish...... families. Investigating male family members were crucial in excluding the Fabry phenotype, and thus very important for proper genetic counceling of all family members, as well as overdiagnosing a devastating genetic disease....

  15. Changes in Ionic Conductance Signature of Nociceptive Neurons Underlying Fabry Disease Phenotype

    Science.gov (United States)

    Namer, Barbara; Ørstavik, Kirstin; Schmidt, Roland; Mair, Norbert; Kleggetveit, Inge Petter; Zeidler, Maximillian; Martha, Theresa; Jorum, Ellen; Schmelz, Martin; Kalpachidou, Theodora; Kress, Michaela; Langeslag, Michiel

    2017-01-01

    The first symptom arising in many Fabry patients is neuropathic pain due to changes in small myelinated and unmyelinated fibers in the periphery, which is subsequently followed by a loss of sensory perception. Here we studied changes in the peripheral nervous system of Fabry patients and a Fabry mouse model induced by deletion of α-galactosidase A (Gla−/0). The skin innervation of Gla−/0 mice resembles that of the human Fabry patients. In Fabry diseased humans and Gla−/0 mice, we observed similar sensory abnormalities, which were also observed in nerve fiber recordings in both patients and mice. Electrophysiological recordings of cultured Gla−/0 nociceptors revealed that the conductance of voltage-gated Na+ and Ca2+ currents was decreased in Gla−/0 nociceptors, whereas the activation of voltage-gated K+ currents was at more depolarized potentials. Conclusively, we have observed that reduced sensory perception due to small-fiber degeneration coincides with altered electrophysiological properties of sensory neurons. PMID:28769867

  16. Changes in Ionic Conductance Signature of Nociceptive Neurons Underlying Fabry Disease Phenotype

    Directory of Open Access Journals (Sweden)

    Barbara Namer

    2017-07-01

    Full Text Available The first symptom arising in many Fabry patients is neuropathic pain due to changes in small myelinated and unmyelinated fibers in the periphery, which is subsequently followed by a loss of sensory perception. Here we studied changes in the peripheral nervous system of Fabry patients and a Fabry mouse model induced by deletion of α-galactosidase A (Gla−/0. The skin innervation of Gla−/0 mice resembles that of the human Fabry patients. In Fabry diseased humans and Gla−/0 mice, we observed similar sensory abnormalities, which were also observed in nerve fiber recordings in both patients and mice. Electrophysiological recordings of cultured Gla−/0 nociceptors revealed that the conductance of voltage-gated Na+ and Ca2+ currents was decreased in Gla−/0 nociceptors, whereas the activation of voltage-gated K+ currents was at more depolarized potentials. Conclusively, we have observed that reduced sensory perception due to small-fiber degeneration coincides with altered electrophysiological properties of sensory neurons.

  17. Pain management strategies for neuropathic pain in Fabry disease--a systematic review

    NARCIS (Netherlands)

    Schuller, Y.; Linthorst, G. E.; Hollak, C. E. M.; van Schaik, I. N.; Biegstraaten, M.

    2016-01-01

    Neuropathic pain is one of the key features of (classical) Fabry disease (FD). No randomized clinical trials comparing effectiveness of different pain management strategies have been performed. This review aims to give an overview of existing pain management strategies. PubMed and Embase were

  18. Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

    NARCIS (Netherlands)

    Smid, B.E.; Hollak, C.E.M.; Poorthuis, B.J.H.M.; Bergh-Weerman, M.A. van den; Florquin, S.; Kok, W.E.; Deprez, R.H.L.; Timmermans, J.; Linthorst, G.E.

    2015-01-01

    Fabry disease' (FD) phenotype is heterogeneous: alpha-galactosidase A gene mutations (GLA) can lead to classical or non-classical FD, or no FD. The aim of this study is to describe pitfalls in diagnosing non-classical FD and assess the diagnostic value of plasma globotriaosylsphingosine. This is a

  19. Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.

    NARCIS (Netherlands)

    Asfaw, B.; Ledvinova, J.; Dobrovolny, R.; Bakker, H.; Desnick, R.J.; Diggelen, O.P. van; Jong, J.G.N. de; Kanzaki, T.; Chabas, A.; Maire, I.; Conzelmann, E.; Schindler, D.

    2002-01-01

    Skin fibroblast cultures from patients with inherited lysosomal enzymopathies, alpha-N-acetylgalactosaminidase (alpha-NAGA) and alpha-galactosidase A deficiencies (Schindler and Fabry disease, respectively), and from normal controls were used to study in situ degradation of blood group A and B

  20. Mutations of alpha-galactosidase A gene in two unusual cases of Fabry disease

    NARCIS (Netherlands)

    Beyer, EM; Kopishinskaya, SV; Van Amstel, JKP; Tsvetkova, [No Value

    1999-01-01

    The mutation analysis of alpha-galactosidase A gene was carried out in two families with Fabry disease described by us earlier. In the family P. a new point mutation E341K (a G to A transition at position 10999 of the gene) was identified. The mutation causes a Glu341Lys substitution in

  1. Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy

    NARCIS (Netherlands)

    Suntjens, Eefje B.; Smid, Bouwien E.; Biegstraaten, Marieke; Dreschler, Wouter A.; Hollak, Carla E. M.; Linthorst, Gabor E.

    2015-01-01

    Data on prevalence, natural history, and effect of enzyme replacement therapy (ERT) on hearing loss (HL) in Fabry disease (FD) are scarce. This is a retrospective study with cross-sectional and longitudinal analyses. Low and high-frequency HL in the Dutch FD cohort was studied in four groups:

  2. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease

    DEFF Research Database (Denmark)

    Hughes, Derralynn A.; Nicholls, Kathleen; Shankar, Suma P.

    2017-01-01

    Background Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as an alternative to intravenous enzyme replacement t...

  3. Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.

    Science.gov (United States)

    Mignani, Renzo; Moschella, Mariarita; Cenacchi, Giovanna; Donati, Ilaria; Flachi, Marta; Grimaldi, Daniela; Cerretani, Davide; Giovanni, Paola De; Montevecchi, Marcello; Rigotti, Angelo; Ravasio, Alessandro

    2017-07-01

    Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation. A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia. The DBS revealed absent leukocyte α -Gal A enzyme activity while DNA analysis identified the I354K mutation. Serum creatinine and e-GFR were in normal range and also albuminuria and proteinuria were absent. The brain MRI showed ischemic lesions and a diffuse focus of gliosis in the white matter, while the echocardiogram showed a left ventricular hypertrophy. The renal biopsy performed in the case index showed a massive deposition of zebra bodies. By a familiar investigation, it was recognized that his brother (Patient 2) died 2 years before from sudden death syndrome at the age of 49. He had suffered sporadic and undiagnosed pain at the extremities, a prior cataract, bilateral neurosensorial hearing loss and left ventricular hypertrophy on Echocardiogram. His previous laboratory examinations revealed a normal serum creatinine and the absence of proteinuria. Pedigree analysis of the brothers revealed a high disease burden among family members, with an affected cousin (Patient 3) who progressed early to end-stage renal disease (ESRD) that required renal transplantation. Here we describe the clinical history of three adult male members of the same family with the same genotype who manifested different presentation and progression of the disease, particularly concerning the renal involvement.

  4. Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.

    Science.gov (United States)

    Chou, Shih-Jie; Yu, Wen-Chung; Chang, Yuh-Lih; Chen, Wen-Yeh; Chang, Wei-Chao; Chien, Yueh; Yen, Jiin-Cherng; Liu, Yung-Yang; Chen, Shih-Jen; Wang, Chien-Ying; Chen, Yu-Han; Niu, Dau-Ming; Lin, Shing-Jong; Chen, Jaw-Wen; Chiou, Shih-Hwa; Leu, Hsin-Bang

    2017-04-01

    Fabry disease (FD) is a lysosomal storage disease in which glycosphingolipids (GB3) accumulate in organs of the human body, leading to idiopathic hypertrophic cardiomyopathy and target organ damage. Its pathophysiology is still poorly understood. We aimed to generate patient-specific induced pluripotent stem cells (iPSC) from FD patients presenting cardiomyopathy to determine whether the model could recapitulate key features of the disease phenotype and to investigate the energy metabolism in Fabry disease. Peripheral blood mononuclear cells from a 30-year-old Chinese man with a diagnosis of Fabry disease, GLA gene (IVS4+919G>A) mutation were reprogrammed into iPSCs and differentiated into iPSC-CMs and energy metabolism was analyzed in iPSC-CMs. The FD-iPSC-CMs recapitulated numerous aspects of the FD phenotype including reduced GLA activity, cellular hypertrophy, GB3 accumulation and impaired contractility. Decreased energy metabolism with energy utilization shift to glycolysis was observed, but the decreased energy metabolism was not modified by enzyme rescue replacement (ERT) in FD-iPSCs-CMs. This model provided a promising in vitro model for the investigation of the underlying disease mechanism and development of novel therapeutic strategies for FD. This potential remedy for enhancing the energetic network and utility efficiency warrants further study to identify novel therapies for the disease. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Cilioretinal artery occlusion and anterior ischemic optic neuropathy as the initial presentation in a child female carrier of Fabry disease.

    Science.gov (United States)

    Ersoz, M Giray; Ture, Gamze

    2018-04-01

    To report the youngest female carrier of Fabry disease, complicated by cilioretinal artery occlusion and anterior ischemic optic neuropathy (AION). Case report. An 11-year-old girl was referred to our clinic with painless, acute loss of vision in her right eye. Posterior segment examination and fluorescein angiography revealed cilioretinal artery occlusion and AION. Systemic evaluations were unremarkable, except for a low blood α-galactosidase A enzyme level of 242.27 pmol/spot*20 h (reference range: 450-2000 pmol/spot*20 h). The patient was diagnosed with female carrier of Fabry disease. Retinal vascular occlusions are rare in childhood, and Fabry disease may present with retinal vascular occlusion. Ophthalmological examinations may be contributing for early detection of the disease. To the best of our knowledge, this is the first report of a child female carrier of Fabry disease, complicated by cilioretinal artery occlusion and AION.

  6. The central nervous system manifestation and CT findings of Fabry's disease

    International Nuclear Information System (INIS)

    Toyonaga, Kazutaka; Nishihira, Takeo

    1983-01-01

    A case of Fabry's disease with central nervous system dysfunction is reported. This 27-year-old man had recurrent episodes of pains in the extremities when he was a child. Spontaneous clinical remission occured around puberty. He had been well until age 22 when he experienced transient weakness of the left arm. The following year he developed transient blindness of the right eye. Then, he developed weakness in the extremities, dysphagia, dysarthria, and was brought to the hospital in unconscious state. Several members of his family are affected with the same disease presenting leg pains, kidney disease and angiokeratoma. Physical examination disclosed an optic atrophy, pseudobulbar palsy with spastic weakness in the all extremities and multiple angiokeratoma in the flank, buttocks and thighs. Abnormal laboratory findings included leukocytosis, increased ESR and strongly positive CRP. Biopsy of the skin disclosed dilated capilaries with numerous vacuoles in the cytoplasm of the epithelial cells. Thin-layer chromatography of the urine sediment showed a marked increase in ceramide trihexoside. Leukocyte alphagalactosidase level was abnormally low. CT scan showed diffuse cerebral atrophy and multiple low density areas in the thalamus, ventral pons and centrum semiovale. The CT findings and possible mechanism of the response to predonisolone were also discussed. (author)

  7. Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.

    Science.gov (United States)

    Song, Xiaowei; Xue, Sufang; Zhao, Jingyan; Wu, Jian

    2017-04-01

    Fabry disease is an X-linked lysosomal storage disorder frequently associated with cerebrovascular disease. Data regarding Fabry disease and ischemic stroke has been lacking in China. In this study, we investigated the prevalence of Fabry disease and the distribution of the alpha-galactosidase A (α-GalA) gene - GLA mutations in young stroke patients in the Chinese population and its association with stroke subtypes. A total of 357 ischemic stroke patients admitted to Xuanwu Hospital of Capital Medical University, aged 18-55 years old, including 293 patients with cerebral infarction and 64 patients with transient ischemic attack, were enrolled in this study. Mutations in the GLA gene were screened by Sanger sequencing. Enzyme levels were measured to further confirm the disease in patients with the gene mutation. The mutation frequency was compared among different stroke subtypes and further compared with the control group individually. No pathogenic mutations in the coding regions of the GLA gene were identified in this group of patients and thus no Fabry disease was found in our study. However, the frequency of an intronic polymorphism c.-10C>T was significantly different among different Trial of Org 10172 in Acute Stroke Treatment subtypes (p T polymorphism in patients with stroke due to other causes and undetermined causes was much higher than that in the control group (OR = 3.18, 95% CI: 1.29-7.83, p stroke patients. In addition, our results suggested that the c.-10C>T polymorphism may be a risk factor for ischemic stroke of other and undetermined causes. Further study is required to confirm our findings.

  8. Prevalence of Fabry Disease and Outcomes in Young Canadian Patients With Cryptogenic Ischemic Cerebrovascular Events.

    Science.gov (United States)

    Lanthier, Sylvain; Saposnik, Gustavo; Lebovic, Gerald; Pope, Karen; Selchen, Daniel; Moore, David F

    2017-07-01

    Previous studies reported Fabry disease in 0% to 4% of young patients with cryptogenic ischemic stroke (IS). We sought to determine the prevalence of Fabry and outcomes among young Canadians with cryptogenic IS or transient ischemic attack (TIA). We prospectively enrolled individuals aged 18 to 55 with IS or speech or motor TIA, and no cause identified despite predetermined investigation. α-galactosidase-A gene was sequenced for Fabry diagnosis. National Institutes of Health Stroke Scale score was measured at presentation to quantify stroke severity. Modified Rankin Scale determined functional outcomes ≤7 days after presentation and 6 months later. We enrolled 365 patients with IS and 32 with TIA. α-galactosidase-A sequencing identified a single carrier of a genetic variant of unknown significance (p.R118C) and no well-recognized pathogenic variants. Mean National Institutes of Health Stroke Scale score was 3.1. Proportion of patients with modified Rankin Scale of 0 to 2 was 70.7% at ≤7 days and 87.4% at 6 months. National Institutes of Health Stroke Scale score at presentation and diabetes mellitus predicted 6-month modified Rankin Scale. Thirteen patients experienced 5 recurrent IS and 9 TIA during follow-up. No patient died. Most patients (98.7%) returned home. Among previous workers, 43% had residual working limitations. In this Canadian cohort of patients with cryptogenic IS or TIA, the prevalence of Fabry was 0.3% if p.R118C variant is considered as pathogenic. This suggests that more cost-effective methods should be applied for diagnosis of Fabry rather than systematic genetic screening in this population. Overall, cryptogenic IS in young adults is associated with favorable outcomes. © 2017 American Heart Association, Inc.

  9. Altered dynamics of a lipid raft associated protein in a kidney model of Fabry disease.

    Science.gov (United States)

    Labilloy, Anatália; Youker, Robert T; Bruns, Jennifer R; Kukic, Ira; Kiselyov, Kirill; Halfter, Willi; Finegold, David; do Monte, Semiramis Jamil Hadad; Weisz, Ora A

    2014-02-01

    Accumulation of globotriaosylceramide (Gb3) and other neutral glycosphingolipids with galactosyl residues is the hallmark of Fabry disease, a lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A (α-gal A). These lipids are incorporated into the plasma membrane and intracellular membranes, with a preference for lipid rafts. Disruption of raft mediated cell processes is implicated in the pathogenesis of several human diseases, but little is known about the effects of the accumulation of glycosphingolipids on raft dynamics in the context of Fabry disease. Using siRNA technology, we have generated a polarized renal epithelial cell model of Fabry disease in Madin-Darby canine kidney cells. These cells present increased levels of Gb3 and enlarged lysosomes, and progressively accumulate zebra bodies. The polarized delivery of both raft-associated and raft-independent proteins was unaffected by α-gal A knockdown, suggesting that accumulation of Gb3 does not disrupt biosynthetic trafficking pathways. To assess the effect of α-gal A silencing on lipid raft dynamics, we employed number and brightness (N&B) analysis to measure the oligomeric status and mobility of the model glycosylphosphatidylinositol (GPI)-anchored protein GFP-GPI. We observed a significant increase in the oligomeric size of antibody-induced clusters of GFP-GPI at the plasma membrane of α-gal A silenced cells compared with control cells. Our results suggest that the interaction of GFP-GPI with lipid rafts may be altered in the presence of accumulated Gb3. The implications of our results with respect to the pathogenesis of Fabry disease are discussed. © 2013 Elsevier Inc. All rights reserved.

  10. MALDI-TOF and cluster-TOF-SIMS imaging of Fabry disease biomarkers

    Science.gov (United States)

    Touboul, David; Roy, Sandrine; Germain, Dominique P.; Chaminade, Pierre; Brunelle, Alain; Laprevote, Olivier

    2007-02-01

    Fabry disease is an X-linked disorder of glycosphingolipid metabolism, in which a partial or total deficiency of [alpha]-galactosidase A, a lysosomal enzyme, results in the progressive accumulation of neutral glycosphingolipids (globotriaosylceramide and digalactosylceramide) in most fluids and tissues of the body. Few information is available about the composition and distribution in tissues of the accumulated glycosphingolipids species. Mass spectrometry imaging is an innovative technique, which can provide pieces of information about the distribution of numerous biological compounds, such as lipids, directly on the tissue sections. MALDI-TOF and cluster-TOF-SIMS imaging approaches were used to study the localization of lipids (cholesterol, cholesterol sulfate, vitamin E, glycosphingolipids ...) on skin and kidney sections of patients affected by the Fabry disease. Numerous information on pathophysiology were enlightened by both techniques.

  11. Non-invasive determination of myocardial lipid content in Fabry disease by 1H-MR spectroscopy

    International Nuclear Information System (INIS)

    Petritsch, B.; Koestler, H.; Machann, W.; Horn, M.; Weng, A.M.; Goltz, J.P.; Hahn, D.; Beer, M.; Niemann, M.; Weidemann, F.; Wanner, C.

    2012-01-01

    Purpose: In Fabry disease (FD), a progressive deposition of sphingolipids is reported in different organs. The present study applied 1 H magnetic resonance spectroscopy (MRS) to investigate the myocardial lipid content in FD. Materials and Methods: In patients (PTS, n = 15) with genetically proven FD, 1 H MRS of the heart was acquired in the same examination as routine cardiac cine and late enhancement MR imaging. Healthy volunteers (n = 11) without history of cardiac disease served as control (CTL). Myocardial triglycerides in vivo were quantified in 1 H MRS. Left ventricular (LV) ejection fraction (EF) and late enhancement were assessed for the determination of LV systolic function, and onset or absence of myocardial fibrosis. Results: All 1 H MRS revealed resonances for intramyocardial triglycerides. Clinical parameters, e.g. EF (PTS 64 ± 2 % vs. CTL 61 ± 1 %) were similar in PTS and CTL or showed a non-significant trend (LV mass). Apart from a single patient with elevated myocardial triglycerides, no significant impact of Fabry disease on the triglyceride/water resonance ratio (PTS 0.47 ± 0.11 vs. CTL 0.52 ± 0.11 %) was observed in our patient cohort. Conclusion: A comprehensive cardiac evaluation of morphology, function as well as metabolism in Fabry PTS with suspected cardiac involvement is feasible in a single examination. No significant effect of myocardial triglyceride deposition could be observed in patients. The remarkably high myocardial triglyceride content in one patient with advanced FD warrants further studies in PTS with an extended history of the disease. (orig.)

  12. Non-invasive determination of myocardial lipid content in Fabry disease by {sup 1}H-MR spectroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Petritsch, B.; Koestler, H.; Machann, W.; Horn, M.; Weng, A.M.; Goltz, J.P.; Hahn, D.; Beer, M. [Universitaetsklinikum Wuerzburg (Germany). Inst. fuer Roentgendiagnostik im ZOM; Niemann, M.; Weidemann, F.; Wanner, C. [Universitaetsklinikum Wuerzburg (Germany). Medizinische Klinik I

    2012-11-15

    Purpose: In Fabry disease (FD), a progressive deposition of sphingolipids is reported in different organs. The present study applied {sup 1}H magnetic resonance spectroscopy (MRS) to investigate the myocardial lipid content in FD. Materials and Methods: In patients (PTS, n = 15) with genetically proven FD, {sup 1}H MRS of the heart was acquired in the same examination as routine cardiac cine and late enhancement MR imaging. Healthy volunteers (n = 11) without history of cardiac disease served as control (CTL). Myocardial triglycerides in vivo were quantified in {sup 1}H MRS. Left ventricular (LV) ejection fraction (EF) and late enhancement were assessed for the determination of LV systolic function, and onset or absence of myocardial fibrosis. Results: All {sup 1}H MRS revealed resonances for intramyocardial triglycerides. Clinical parameters, e.g. EF (PTS 64 {+-} 2 % vs. CTL 61 {+-} 1 %) were similar in PTS and CTL or showed a non-significant trend (LV mass). Apart from a single patient with elevated myocardial triglycerides, no significant impact of Fabry disease on the triglyceride/water resonance ratio (PTS 0.47 {+-} 0.11 vs. CTL 0.52 {+-} 0.11 %) was observed in our patient cohort. Conclusion: A comprehensive cardiac evaluation of morphology, function as well as metabolism in Fabry PTS with suspected cardiac involvement is feasible in a single examination. No significant effect of myocardial triglyceride deposition could be observed in patients. The remarkably high myocardial triglyceride content in one patient with advanced FD warrants further studies in PTS with an extended history of the disease. (orig.)

  13. Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency)

    NARCIS (Netherlands)

    Linthorst, Gabor E.; Folman, Claudia C.; Aerts, Johannes M. F. G.; Hollak, Carla E. M.

    2003-01-01

    Blood groups B and P1 are substrates for the lysosomal enzyme alpha-galactosidase A. Therefore, patients with alpha-Gal A deficiency and blood groups B or P1 may exhibit more severe disease. In 48 Fabry patients distribution of blood group was not different from that in the Dutch population. No

  14. Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

    Directory of Open Access Journals (Sweden)

    Beth L. Thurberg, MD, PhD

    2017-06-01

    Full Text Available Fabry disease (FD is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb3 in multiple cells types throughout the body. As with other rare metabolic disorders, little is known about the incidence of malignancies in these populations and the relationship to the underlying disease, if any. We report the occurrence of meningioma in four female patients with Fabry disease. Two of the cases are from the same family and shared the same GLA mutation. All four patients underwent surgical excision of their tumor. High resolution light microscopy and electron microscopy examination of one case revealed extensive involvement of tumor cells and associated blood vessels by GL-3 accumulation. Because of the small number of Fabry-associated cancer cases reported in the literature, questions about a possible link between lysosomal storage disorders and the development of malignancy remain open.

  15. Corpus callosum involvement: a useful clue for differentiating Fabry disease from multiple sclerosis

    International Nuclear Information System (INIS)

    Cocozza, Sirio; Olivo, Gaia; Pontillo, Giuseppe; Ugga, Lorenzo; De Rosa, Dario; Imbriaco, Massimo; Brunetti, Arturo; Tedeschi, Enrico; Riccio, Eleonora; Migliaccio, Silvia; Pisani, Antonio; Russo, Camilla; Feriozzi, Sandro; Veroux, Massimiliano; Battaglia, Yuri; Concolino, Daniela; Pieruzzi, Federico; Tuttolomondo, Antonino; Caronia, Aurelio; Russo, Cinzia Valeria; Lanzillo, Roberta; Brescia Morra, Vincenzo

    2017-01-01

    Multiple sclerosis (MS) has been proposed as a possible differential diagnosis for Fabry disease (FD). The aim of this work was to evaluate the involvement of corpus callosum (CC) on MR images and its possible role as a radiological sign to differentiate between FD and MS. In this multicentric study, we retrospectively evaluated the presence of white matter lesions (WMLs) on the FLAIR images of 104 patients with FD and 117 patients with MS. The incidence of CC-WML was assessed in the two groups and also in a subgroup of 37 FD patients showing neurological symptoms. WMLs were detected in 50 of 104 FD patients (48.1%) and in all MS patients. However, a lesion in the CC was detected in only 3 FD patients (2.9%) and in 106 MS patients (90.6%). In the FD subgroup with neurological symptoms, WMLs were present in 26 of 37 patients (70.3%), with two subjects (5.4%) showing a definite callosal lesion. FD patients have a very low incidence of CC involvement on conventional MR images compared to MS, independently from the clinical presentation and the overall degree of WM involvement. Evaluating the presence of CC lesions on brain MR scans can be used as a radiological sign for a differential diagnosis between MS and FD, rapidly addressing the physician toward a correct diagnosis and subsequent treatment options. (orig.)

  16. Corpus callosum involvement: a useful clue for differentiating Fabry disease from multiple sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Cocozza, Sirio; Olivo, Gaia; Pontillo, Giuseppe; Ugga, Lorenzo; De Rosa, Dario; Imbriaco, Massimo; Brunetti, Arturo; Tedeschi, Enrico [University ' ' Federico II' ' , Department of Advanced Biomedical Sciences, Naples (Italy); Riccio, Eleonora; Migliaccio, Silvia; Pisani, Antonio [University ' ' Federico II' ' , Department of Public Health, Nephrology Unit, Naples (Italy); Russo, Camilla [University ' ' Federico II' ' , Department of Advanced Biomedical Sciences, Naples (Italy); Feriozzi, Sandro [Belcolle Hospital, Nephrology and Dialysis Department, Viterbo (Italy); Veroux, Massimiliano [University Hospital of Catania, Department of Medical and Surgical Sciences and Advanced Technologies, Catania (Italy); Battaglia, Yuri [St. Anna Hospital-University, Department of Specialized Medicine, Division of Nephrology and Dialysis, Ferrara (Italy); Concolino, Daniela [University Magna Graecia, Department of Pediatrics, Catanzaro (Italy); Pieruzzi, Federico [University of Milano-Bicocca, Nephrology Unit, Milan (Italy); Tuttolomondo, Antonino [University of Palermo, Internal Medicine, DiBiMIS, Palermo (Italy); Caronia, Aurelio [Triolo Zancia Care Home, Palermo (Italy); Russo, Cinzia Valeria; Lanzillo, Roberta; Brescia Morra, Vincenzo [University ' ' Federico II' ' , Department of Neurosciences and Reproductive and Odontostomatological Sciences, Naples (Italy)

    2017-06-15

    Multiple sclerosis (MS) has been proposed as a possible differential diagnosis for Fabry disease (FD). The aim of this work was to evaluate the involvement of corpus callosum (CC) on MR images and its possible role as a radiological sign to differentiate between FD and MS. In this multicentric study, we retrospectively evaluated the presence of white matter lesions (WMLs) on the FLAIR images of 104 patients with FD and 117 patients with MS. The incidence of CC-WML was assessed in the two groups and also in a subgroup of 37 FD patients showing neurological symptoms. WMLs were detected in 50 of 104 FD patients (48.1%) and in all MS patients. However, a lesion in the CC was detected in only 3 FD patients (2.9%) and in 106 MS patients (90.6%). In the FD subgroup with neurological symptoms, WMLs were present in 26 of 37 patients (70.3%), with two subjects (5.4%) showing a definite callosal lesion. FD patients have a very low incidence of CC involvement on conventional MR images compared to MS, independently from the clinical presentation and the overall degree of WM involvement. Evaluating the presence of CC lesions on brain MR scans can be used as a radiological sign for a differential diagnosis between MS and FD, rapidly addressing the physician toward a correct diagnosis and subsequent treatment options. (orig.)

  17. Anderson-Fabry, the histrionic disease: from genetics to clinical management

    Directory of Open Access Journals (Sweden)

    Franco Cecchi

    2013-02-01

    Full Text Available Anderson-Fabry disease (AFD is an Xlinked lysosomal storage disorder of glycosphingolipid catabolism, due to deficiency or absence of a galactosidase A (α-gal A enzyme. The disease may affect males and females, the latter with an average 10 years delay. Metabolites storage (mostly Gb3 and lyso-Gb3 leads to progressive cellular and multiorgan dysfunction, with either early and late onset variable clinical manifestations that usually reduce quality of life and life expectancy. Heart and kidney failure, stroke and sudden death are the most devastating complications. AFD is always been considered a very rare disease, although new epidemiologic data, based on newborn screening, showed that AFD prevalence is probably underestimated and much higher than previously reported, especially for late-onset atypical phenotypes. Currently, the diagnosis may be easier and simpler by evaluating α-gal A enzyme activity and genetic analysis for GLA gene mutations on dried blood spot. While a marked α-gal A deficiency leads to diagnosis of AFD in hemizygous males, the molecular analysis is mandatory in heterozygous females. However, referral to a center with an expert multidisciplinary team is highly advisable, in order to ensure careful management and treatment of patients, based also on accurate molecular and biochemical data interpretation. While long-term efficacy of enzyme replacement therapy (ERT in advanced stage is still debated, increasing evidence shows greater efficacy of early treatment initiation. Concomitant, organ-specific therapy is also needed. New treatment approaches, such as chemical chaperone therapy, alone or in combination with ERT, are currently under investigation. The present review illustrates the major features of the disease, focusing also on biochemical and genetic aspects.

  18. [Role of cardiac magnetic resonance in cardiac involvement of Fabry disease].

    Science.gov (United States)

    Serra, Viviana M; Barba, Miguel Angel; Torrá, Roser; Pérez De Isla, Leopoldo; López, Mónica; Calli, Andrea; Feltes, Gisela; Torras, Joan; Valverde, Victor; Zamorano, José L

    2010-09-04

    Fabry disease is a hereditary disorder. Clinical manifestations are multisystemic. The majority of the patients remain undiagnosed until late in life, when alterations could be irreversible. Early detection of cardiac symptoms is of major interest in Fabry's disease (FD) in order to gain access to enzyme replacement therapy. Echo-Doppler tissular imaging (TDI) has been used as a cardiologic early marker in FD. This study is intended to determine whether the cardiac magnetic resonance is as useful tool as TDI for the early detection of cardiac affectation in FD. Echocardiography, tissue Doppler and Cardio magnetic resonance was performed in 20 patients with confirmed Fabry Disease. Left ventricular hypertrophy was defined as septum and left ventricular posterior wall thickness ≥12 mm. An abnormal TDI velocity was defined as (Sa), (Ea) and/or (Aa) velocities gadolinium-enhanced images sequences were obtained using magnetic resonance. Twenty patients included in the study were divided into three groups: 1. Those without left ventricular hypertrophy nor tissue Doppler impairment 2. Those without left ventricular hypertrophy and tissue Doppler impairment 3. Those with left ventricular hypertrophy and Tissue Doppler impairment. Late gadolinium enhancement was found in only one patient, who has already altered DTI and LVH. Tissue Doppler imaging (TDI) is the only diagnostic tool able to provide early detection of cardiac affectation in patients with FD. Magnetic resonance provides information of the disease severity in patients with LVH, but can not be used as an early marker of cardiac disease in patients with FD. However MRI could be of great value for diagnostic stratification. Copyright © 2009 Elsevier España, S.L. All rights reserved.

  19. Focal Reduction in Cardiac 123I-Metaiodobenzylguanidine Uptake in Patients With Anderson-Fabry Disease.

    Science.gov (United States)

    Yamamoto, Saori; Suzuki, Hideaki; Sugimura, Koichiro; Tatebe, Shunsuke; Aoki, Tatsuo; Miura, Masanobu; Yaoita, Nobuhiro; Sato, Haruka; Kozu, Katuya; Ota, Hideki; Takanami, Kentaro; Takase, Kei; Shimokawa, Hiroaki

    2016-11-25

    It remains to be elucidated whether cardiac sympathetic nervous activity is impaired in patients with Anderson-Fabry disease (AFD).Methods and Results:We performed 123 I-meta-iodobenzylguanidine (MIBG) scintigraphy and gadolinium-enhanced cardiovascular magnetic resonance (CMR) in 5 AFD patients. MIBG uptake in the inferolateral wall, where wall thinning and delayed enhancement were noted on CMR, was significantly lower compared with the anteroseptal wall. The localized reduction in MIBG uptake was also noted in 2 patients with no obvious abnormal findings on CMR. Cardiac sympathetic nervous activity is impaired in AFD before development of structural myocardial abnormalities. (Circ J 2016; 80: 2550-2551).

  20. Guidelines to start enzyme replacement therapy in classic Fabry Disease patients in Latin America

    Directory of Open Access Journals (Sweden)

    Juan Manuel Politei

    2017-01-01

    Full Text Available Introduction: Fabry disease is a rare inherited X-linked disorder resulting from the absence or deficient activity of the α-galactosidase A enzyme. Objetive: To provide the first guideline on the best time to start enzyme replacement therapy to treat classic Fabry disease, based on the knowledge and experience of experts from ten Latin American countries: Argentina, Brazil, Colombia, Costa Rica, Chile, Ecuador, Mexico, Peru, Uruguay and Venezuela. Methods: The project coordinator designed a survey based on the criteria for starting the treatment which are established in different international guidelines published to date. This document was later sent to all the participants for its evaluation. Results: Fifty experts responded to the survey, whose criteria was divided into 5 sections according to specialty, and they arrived at a consensus. Discussion: The criteria for an early treatment were defined given the growing evidence of a better response and prognosis associated with it. Conclusion: We believe that the importance of this guideline relies on the participation of experts from ten Latin American countries. However, as it deals with a systemic disease whose physiopathological mechanisms and complications are still being described, some manifestations have not been included in the criteria, making it necessary to revise this guideline in order to report any changes that may arise in the future.

  1. Accidente cerebro-vascular en la enfermedad de Fabry: Algo más que una simple estenosis Stroke in Fabry disease: More than a simple stenosis

    Directory of Open Access Journals (Sweden)

    Juan Manuel Politei

    2006-10-01

    Full Text Available Se analiza la evidencia existente a la fecha sobre los mecanismos fisiopatológicos que pueden generar accidentes cerebrovasculares en la enfermedad de Fabry. Esta entidad es el resultado de la deficiencia de a-galactosidasa A, lo que resulta en depósito patológico de glicoesfingilípidos en distintas poblaciones celulares. Asociados a la insuficiencia renal y cardíaca, los accidentes cerebrovasculares pueden derivar en la muerte de los pacientes. Durante mucho tiempo el único mecanismo generador de daño vascular informado fue la oclusión vascular por depósito lipídico a nivel endotelial. En la actualidad se describen otros mecanismos. El advenimiento de la terapia de reemplazo enzimático ha generado gran expectativa en cuanto la posibilidad de reversión de estos mecanismos. Si bien la evidencia es escasa y son necesarios más estudios a largo plazo, algunos informes demuestran que luego de meses, el tratamiento ha logrado revertir algunos de los mecanismos implicados.The objective is to analyze the updated evidence on the physiopathological mechanisms that can generate cerebrovascular damage in Fabry disease. Fabry disease is the result of the deficiency of a-galactosidasa A, which causes pathological storage of glycosphingolipids, in different cells. Associated to renal and cardiac insufficiency, cerebrovascular complications can derive in the death of the patients. During a long time the only reported mechanism was the vascular occlusion by deposit of lipids at endothelial level. At the present time, other mechanisms are postulated. The arrival of enzyme replacement therapy has generated great expectation on the possibility of reversion of these alterations. Although the evidence is scarce and more long term studies are necessary, some reports demonstrate that after months, the treatment has managed to revert some of the mechanisms involved.

  2. Recombinant enzyme therapy for Fabry disease: Absence of editing of human alpha-galactosidase A mRNA

    NARCIS (Netherlands)

    Blom, Daniël; Speijer, Dave; Linthorst, Gabor E.; Donker-Koopman, Wilma G.; Strijland, Anneke; Aerts, Johannes M. F. G.

    2003-01-01

    For more than a decade, protein-replacement therapy has been employed successfully for the treatment of Gaucher disease. Recently, a comparable therapy has become available for the related lipid-storage disorder Fabry disease. Two differently produced recombinant alpha-galactosidase A (alpha-gal A)

  3. Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta

    DEFF Research Database (Denmark)

    Wilcox, William R; Feldt-Rasmussen, Ulla; Martins, Ana Maria

    2018-01-01

    of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to persist into adulthood if left untreated. To further understand the effects of sustained enzyme replacement therapy (ERT) with agalsidase beta......Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase, GLA. In patients with Fabry disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum...... on gastrointestinal symptoms in heterozygotes, a data analysis of female patients enrolled in the Fabry Registry was conducted. To be included, females of any age must have received agalsidase beta (average dose 1.0 mg/kg every 2 weeks) for at least 2.5 years. Measured outcomes were self-reported gastrointestinal...

  4. Receptor-mediated endocytosis of α-galactosidase A in human podocytes in Fabry disease.

    Directory of Open Access Journals (Sweden)

    Thaneas Prabakaran

    Full Text Available Injury to the glomerular podocyte is a key mechanism in human glomerular disease and podocyte repair is an important therapeutic target. In Fabry disease, podocyte injury is caused by the intracellular accumulation of globotriaosylceramide. This study identifies in the human podocyte three endocytic receptors, mannose 6-phosphate/insulin-like growth II receptor, megalin, and sortilin and demonstrates their drug delivery capabilities for enzyme replacement therapy. Sortilin, a novel α-galactosidase A binding protein, reveals a predominant intracellular expression but also surface expression in the podocyte. The present study provides the rationale for the renal effect of treatment with α-galactosidase A and identifies potential pathways for future non-carbohydrate based drug delivery to the kidney podocyte and other potential affected organs.

  5. In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

    NARCIS (Netherlands)

    van der Tol, Linda; Verhamme, Camiel; van Schaik, Ivo N.; van der Kooi, Anneke J.; Hollak, Carla E. M.; Biegstraaten, Marieke

    2016-01-01

    Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an α-galactosidase A enzyme deficiency due to pathogenic variants in the α-galactosidase A gene (GLA). An increasing number of individuals with a GLA variant, but without characteristic FD features, are identified. A definite

  6. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

    NARCIS (Netherlands)

    van der Tol, L.; Smid, B. E.; Poorthuis, B. J. H. M.; Biegstraaten, M.; Deprez, R. H. Lekanne; Linthorst, G. E.; Hollak, C. E. M.

    2014-01-01

    Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals often do not express characteristic features of FD. A systematic review on FD screening studies was performed to interpret the

  7. Fabry disease: renal sphingolipid distribution in the alpha-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging

    Czech Academy of Sciences Publication Activity Database

    Kuchař, L.; Faltýsková, Helena; Ledvinová, J.; Krásný, Lukáš; Dobrovolný, R.; Hůlková, H.; Volný, Michael; Strohalm, Martin; Lemr, Karel; Kryšpínová, L.; Asfaw, B.; Rybová, J.; Desnick, R.J.; Havlíček, Vladimír

    2015-01-01

    Roč. 407, č. 8 (2015), s. 2283-2291 ISSN 1618-2642 R&D Projects: GA MŠk(CZ) LD13038; GA ČR(CZ) GAP206/12/1150 Institutional support: RVO:61388971 Keywords : Fabry disease * Kidney * Glycosphingolipids Subject RIV: CE - Biochemistry Impact factor: 3.125, year: 2015

  8. Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.

    Science.gov (United States)

    Sechi, Annalisa; Nucifora, Gaetano; Piccoli, Gianluca; Dardis, Andrea; Bembi, Bruno

    2014-07-16

    Cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE) imaging is increasingly used to assess myocardial involvement in patients with Fabry disease, an X linked lipid storage disorder. However, it is often proposed as an optional tool. A different cardiomyopathic disease progression between male and female patients was hypothesised in previous studies, as in female myocardial fibrosis was found without left ventricular (LV) hypertrophy, while myocardial fibrosis was always detected in association to LV hypertrophy in men. A male Caucasian patient, 19 years old, diagnosed through a family-based molecular screening, presented with LGE of the LV inferolateral wall evidenced at the CMR, without LV hypertrophy, or other clinical signs of the disease. This is the first report of cardiac fibrosis as the first sign of organ involvement in a male patient with Fabry disease. This finding stresses the importance of performing CMR with LGE imaging for the initial staging and monitoring of Fabry patients of both genders.

  9. The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease

    OpenAIRE

    Moon, J. C.; Sheppard, M.; Reed, E.; Lee, P.; Elliott, P. M.; Pennell, D. J.

    2006-01-01

    Anderson-Fabry Disease (AFD) is a storage disease that mimics hypertrophic cardiomyopathy. Late gadolinium enhancement (LGE) by cardiovascular magnetic resonance occurs in approximately 50% of patients in the basal inferolateral LV wall, but how an intracellular storage disease causes focal LGE is unknown. We present a whole-heart histological validation that LGE is caused by focal myocardial collagen scarring. This scarring may be the substrate for electrical re-entry and sudden arrhythmic d...

  10. Intraoperative Diagnosis of Anderson-Fabry Disease in Patients With Obstructive Hypertrophic Cardiomyopathy Undergoing Surgical Myectomy.

    Science.gov (United States)

    Cecchi, Franco; Iascone, Maria; Maurizi, Niccolò; Pezzoli, Laura; Binaco, Irene; Biagini, Elena; Fibbi, Maria Laura; Olivotto, Iacopo; Pieruzzi, Federico; Fruntelata, Ana; Dorobantu, Lucian; Rapezzi, Claudio; Ferrazzi, Paolo

    2017-10-01

    Diagnostic screening for Anderson-Fabry cardiomyopathy (AFC) is performed in the presence of specific clinical red flags in patients with hypertrophic cardiomyopathy (HCM) older than 25 years. However, left ventricular outflow tract obstruction (LVOTO) has been traditionally considered an exclusion criteria for AFC. To examine a series of patients diagnosed with HCM and severe basal LVOTO undergoing myectomy in whom the diagnosis of AFC was suspected by the cardiac surgeon intraoperatively and confirmed by histological and genetic examinations. This retrospective analysis of patients undergoing surgical septal reduction strategies was conducted in 3 European tertiary referral centers for HCM from July 2013 to December 2016. Patients with a clinical diagnosis of obstructive HCM referred for surgical management of LVOTO were observed for at least 18 months after the procedure (mean [SD] follow-up, 33 [14] months). Etiology of patients with HCM who underwent surgical myectomy. From 2013, 235 consecutive patients with a clinical diagnosis of HCM underwent septal myectomy. The cardiac surgeon suspected a storage disease in 3 patients (1.3%) while inspecting their heart samples extracted from myectomy. The mean (SD) age at diagnosis for these 3 patients was 42 (4) years; all were male. None of the 3 patients presented with extracardiac features suggestive of AFC. All patients showed asymmetrical left ventricular hypertrophy, with maximal left ventricular thickness in the basal septum (19-31 mm), severe basal LVOTO (70-120 mm Hg), and left atrial dilatation (44-57 mm). Only 1 patient presented with late gadolinium enhancement on cardiovascular magnetic resonance at the right ventricle insertion site. The mean (SD) age at surgical procedure was 63 (5) years. On tactile sensation, the surgeon felt a spongy consistency of the surgical samples, different from the usual stony-elastic consistency typical of classic HCM, and this prompted histological examinations. Histology

  11. Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy

    DEFF Research Database (Denmark)

    Madsen, Christoffer Valdorff; Bundgaard, Henning; Rasmussen, Åse Krogh

    2017-01-01

    from baseline to follow-up; 30 mm [15-53] vs. 25 mm [3-44], p vs. 1520 mm·ms [550-5740], p within the non-ERT group. During follow-up, cardiac symptoms and use of cardiovascular procedures and -medication increased...... significantly in the ERT group, whereas no differences were observed within the non-ERT group. DISCUSSION: We raise concerns regarding the efficacy and benefit of ERT on cardiac involvement in Fabry disease and stress the need for further research....... and Holter-monitoring. RESULTS: We included 66 patients; 47 patients (27 women) received ERT (ERT group) and 19 patients (15 women) did not (non-ERT group). The groups were followed for a median of 8 [0-12] years and 6 [0-13] years, respectively. Comparison between ERT and non-ERT receiving patients by left...

  12. Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease

    DEFF Research Database (Denmark)

    Korsholm, Kirsten; Feldt-Rasmussen, Ulla; Granqvist, Henrik

    2015-01-01

    tomography (PET) and magnetic resonance imaging (MRI). PATIENTS: Forty patients with Fabry disease (14 males, 26 females, age at inclusion: 10-66 years, median: 39 years) underwent a brain F-18-FDG-PET-scan at inclusion, and 31 patients were followed with FDG-PET biannually for up to seven years. All...... patients (except one) had a brain MRI-scan at inclusion, and 34 patients were followed with MRI biannually for up to nine years. IMAGE ANALYSIS: The FDG-PET-images were inspected visually and analysed using a quantitative 3-dimensional stereotactic surface projection analysis (Neurostat). MRI images were...... also inspected visually and severity of white matter lesions (WMLs) was graded using a visual rating scale. RESULTS: In 28 patients brain-FDG-PET was normal; in 23 of these 28 patients brain MRI was normal--of the remaining five patients in this group, four patients had WMLs and one patient never had...

  13. Multicomponent nanoparticles as nonviral vectors for the treatment of Fabry disease by gene therapy

    Directory of Open Access Journals (Sweden)

    Ruiz de Garibay AP

    2012-10-01

    Full Text Available Aritz Pérez Ruiz de Garibay, Diego Delgado, Ana del Pozo-Rodríguez, María Ángeles Solinís, Alicia Rodríguez GascónPharmacokinetics, Nanotechnology and Gene Therapy Group, Pharmacy Faculty, University of the Basque Country UPV/EHU, Vitoria-Gasteiz, SpainPurpose: Gene-mediated enzyme replacement is a reasonable and highly promising approach for the treatment of Fabry disease (FD. The objective of the present study was to demonstrate the potential applications of solid lipid nanoparticle (SLN-based nonviral vectors for the treatment of FD.Methods: SLNs containing the pR-M10-αGal A plasmid that encodes the α-Galactosidase A (α-Gal A enzyme were prepared and their in vitro transfection efficacy was studied in Hep G2 cells. We also studied the cellular uptake of the vectors and the intracellular disposition of the plasmid.Results: The enzymatic activity of the cells treated with the vectors increased significantly relative to the untreated cells, regardless of the formulation assayed. When the SLNs were prepared with protamine or dextran and protamine, the activity of the α-Gal A enzyme by the transfected Hep G2 cells increased up to 12-fold compared to that of untreated cells.Conclusion: With this work we have revealed in Hep G2 cells the ability of a multicomponent system based on SLNs to act as efficient nonviral vectors to potentially correct low α-Gal A activity levels in FD with gene therapy.Keywords: solid lipid nanoparticles, Fabry disease, nonviral vectors, gene therapy

  14. Value of the CHA2DS2-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation.

    Science.gov (United States)

    Liu, Dan; Hu, Kai; Schmidt, Marie; Müntze, Jonas; Maniuc, Octavian; Gensler, Daniel; Oder, Daniel; Salinger, Tim; Weidemann, Frank; Ertl, Georg; Frantz, Stefan; Wanner, Christoph; Nordbeck, Peter

    2018-05-24

    To evaluate potential risk factors for stroke or transient ischemic attacks (TIA) and to test the feasibility and efficacy of a Fabry-specific stroke risk score in Fabry disease (FD) patients without atrial fibrillation (AF). FD patients often experience cerebrovascular events (stroke/TIA) at young age. 159 genetically confirmed FD patients without AF (aged 40 ± 14 years, 42.1% male) were included, and risk factors for stroke/TIA events were determined. All patients were followed up over a median period of 60 (quartiles 35-90) months. The pre-defined primary outcomes included new-onset or recurrent stroke/TIA and all-cause death. Prior stroke/TIA (HR 19.97, P TIA in FD patients without AF. A Fabry-specific score was established based on above defined risk factors, proving somehow superior to the CHA 2 DS 2 -VASc score in predicting new-onset or recurrent stroke/TIA in this cohort (AUC 0.87 vs. 0.75, P = .199). Prior stroke/TIA, angiokeratoma, renal dysfunction, left ventricular hypertrophy, and global systolic dysfunction are independent risk factors for new-onset or recurrent stroke/TIA in FD patients without AF. It is feasible to predict new or recurrent cerebral events with the Fabry-specific score based on the above defined risk factors. Future studies are warranted to test if FD patients with high risk for new-onset or recurrent stroke/TIA, as defined by the Fabry-specific score (≥ 2 points), might benefit from antithrombotic therapy. Clinical trial registration HEAL-FABRY (evaluation of HEArt invoLvement in patients with FABRY disease, NCT03362164).

  15. Long-term enzyme replacement therapy is associated with reduced proteinuria and preserved proximal tubular function in women with Fabry disease

    DEFF Research Database (Denmark)

    Prabakaran, Thaneas; Birn, Henrik; Bibby, Bo M

    2014-01-01

    dysfunction in women with Fabry disease treated with ERT. METHODS: A retrospective, single centre, cohort study evaluated the long-term association between ERT, albuminuria and eGFR in 13 women with Fabry disease and mild renal involvement. In particular, we analysed the changes in the proteinuric profile...... to end-stage renal failure. In women with Fabry disease, accumulation of GL-3 in the glomerular podocytes and other renal cells induces progressive, proteinuric nephropathy, but not as severe as in men. Enzyme replacement therapy (ERT) with recombinant α-Gal A reduces cellular GL-3 deposits in podocytes...... in albuminuria was paralleled by a decrease in both glomerular and tubular urine protein markers. CONCLUSIONS: The data indicate that long-term ERT is associated with a reduction in albuminuria and glomerular and tubular urinary protein markers in women with Fabry disease and mild renal manifestations....

  16. Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping.

    Science.gov (United States)

    Sado, Daniel M; White, Steven K; Piechnik, Stefan K; Banypersad, Sanjay M; Treibel, Thomas; Captur, Gabriella; Fontana, Marianna; Maestrini, Viviana; Flett, Andrew S; Robson, Matthew D; Lachmann, Robin H; Murphy, Elaine; Mehta, Atul; Hughes, Derralynn; Neubauer, Stefan; Elliott, Perry M; Moon, James C

    2013-05-01

    Anderson-Fabry disease (AFD) is a rare but underdiagnosed intracellular lipid disorder that can cause left ventricular hypertrophy (LVH). Lipid is known to shorten the magnetic resonance imaging parameter T1. We hypothesized that noncontrast T1 mapping by cardiovascular magnetic resonance would provide a novel and useful measure in this disease with potential to detect early cardiac involvement and distinguish AFD LVH from other causes. Two hundred twenty-seven subjects were studied: patients with AFD (n=44; 55% with LVH), healthy volunteers (n=67; 0% with LVH), patients with hypertension (n=41; 24% with LVH), patients with hypertrophic cardiomyopathy (n=34; 100% with LVH), those with severe aortic stenosis (n=21; 81% with LVH), and patients with definite amyloid light-chain (AL) cardiac amyloidosis (n=20; 100% with LVH). T1 mapping was performed using the shortened modified Look-Locker inversion sequence on a 1.5-T magnet before gadolinium administration with primary results derived from the basal and midseptum. Compared with health volunteers, septal T1 was lower in AFD and higher in other diseases (AFD versus healthy volunteers versus other patients, 882±47, 968±32, 1018±74 milliseconds; Pgadolinium enhancement (1001±82 versus 891±38 milliseconds; P<0.0001). Noncontrast T1 mapping shows potential as a unique and powerful measurement in the imaging assessment of LVH and AFD.

  17. High?Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease

    OpenAIRE

    2016-01-01

    Background High?sensitivity troponin (hs?TNT), a biomarker of myocardial damage, might be useful for assessing fibrosis in Fabry cardiomyopathy. We performed a prospective analysis of hs?TNT as a biomarker for myocardial changes in Fabry patients and a retrospective longitudinal follow?up study to assess longitudinal hs?TNT changes relative to fibrosis and cardiomyopathy progression. Methods and Results For the prospective analysis, hs?TNT from 75 consecutive patients with genetically confirm...

  18. Proposed Stages of Myocardial Phenotype Development in Fabry Disease.

    Science.gov (United States)

    Nordin, Sabrina; Kozor, Rebecca; Medina-Menacho, Katia; Abdel-Gadir, Amna; Baig, Shanat; Sado, Daniel M; Lobascio, Ilaria; Murphy, Elaine; Lachmann, Robin H; Mehta, Atul; Edwards, Nicola C; Ramaswami, Uma; Steeds, Richard P; Hughes, Derralynn; Moon, James C

    2018-05-11

    The authors sought to explore the Fabry myocardium in relation to storage, age, sex, structure, function, electrocardiogram changes, blood biomarkers, and inflammation/fibrosis. Fabry disease (FD) is a rare, x-linked lysosomal storage disorder. Mortality is mainly cardiovascular with men exhibiting cardiac symptoms earlier than women. By cardiovascular magnetic resonance, native T1 is low in FD because of sphingolipid accumulation. A prospective, observational study of 182 FD (167 adults, 15 children; mean age 42 ± 17 years, 37% male) who underwent cardiovascular magnetic resonance including native T1, late gadolinium enhancement (LGE), and extracellular volume fraction, 12-lead electrocardiogram, and blood biomarkers (troponin and N-terminal pro-brain natriuretic peptide). In children, T1 was never below the normal range, but was lower with age (9 ms/year, r = -0.78 children; r = -0.41 whole cohort; both p < 0.001). Over the whole cohort, the T1 reduction with age was greater and more marked in men (men: -1.9 ms/year, r = -0.51, p < 0.001; women: -1.4 ms/year, r = -0.47 women, p < 0.001). Left ventricular hypertrophy (LVH), LGE, and electrocardiogram abnormalities occur earlier in men. Once LVH occurs, T1 demonstrates major sex dimorphism: with increasing LVH in women, T1 and LVH become uncorrelated (r = -0.239, p = 0.196) but in men, the correlation reverses and T1 increases (toward normal) with LVH (r = 0.631, p < 0.001), a U-shaped relationship of T1 to indexed left ventricular mass in men. These data suggest that myocyte storage starts in childhood and accumulates faster in men before triggering 2 processes: a sex-independent scar/inflammation regional response (LGE) and, in men, apparent myocyte hypertrophy diluting the T1 lowering of sphingolipid. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  19. The Frequency of Fabry Disease among Young Cryptogenic Stroke Patients in the City of Sakarya.

    Science.gov (United States)

    Gündoğdu, Aslı Aksoy; Kotan, Dilcan; Alemdar, Murat

    2017-06-01

    Fabry disease (FD) is known as a rare cause of stroke. Recent studies suggested that FD is an underdiagnosed entity among young stroke patients. We aimed to investigate the frequency of FD in young cryptogenic stroke patients who lived in the City of Sakarya and to define the clinical features that help in recognizing patients with FD. Acute ischemic stroke patients aged 18-55 years who were admitted to our hospital between October 2013 and September 2016 were evaluated for inclusion. Patients with other recognized causes of stroke were excluded. The screening was performed for alpha-galactosidase A (α-Gal A) activity on dried blood spot, and DNA was sequenced for GLA mutation in patients with low plasma α-Gal A activity. Among the 484 acute ischemic stroke patients, 54 (24 male, 44.4%) young cryptogenic stroke patients were enrolled. The α-Gal A activity was detected as low in 3 patients. c.[680G > A] p.[R227Q] missense mutation was identified in 2 male patients. The frequency of FD was calculated as 3.7%. Our research is the first FD screening study in Turkish stroke patients. Our results underlined the importance of considering FD during the etiologic evaluation of young cryptogenic stroke patients as it is a rare but potentially treatable entity. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  20. Fabry disease under enzyme replacement therapy-new insights in efficacy of different dosages.

    Science.gov (United States)

    Krämer, Johannes; Lenders, Malte; Canaan-Kühl, Sima; Nordbeck, Peter; Üçeyler, Nurcan; Blaschke, Daniela; Duning, Thomas; Reiermann, Stefanie; Stypmann, Jörg; Brand, Stefan-Martin; Gottschling, Timo; Störk, Stefan; Wanner, Christoph; Sommer, Claudia; Brand, Eva; Weidemann, Frank

    2017-11-23

    Fabry patients on reduced dose of agalsidase-beta or after switch to agalsidase-alfa show a decline in estimated glomerular filtration rate (eGFR) and an increase of the Mainz Severity Score Index. In this prospective observational study, we assessed end-organ damage and clinical symptoms in 112 patients who had received agalsidase-beta (1.0 mg/kg) for >1 year, who were (i) non-randomly assigned to continue this treatment regime (regular-dose group, n = 37); (ii) received a reduced dose of agalsidase-beta and subsequent switch to agalsidase-alfa (0.2 mg/kg) or a direct switch to 0.2 mg/kg agalsidase-alfa (switch group, n = 38); or (iii) were re-switched to agalsidase-beta after receiving agalsidase-alfa for at least 12 months (re-switch group, n = 37) with a median follow-up of 53 (38-57) months. eGFR of patients in the regular-dose group remained stable. Patients in the switch group showed an annual eGFR loss of - 4.6  ±  9.1 mL/min/1.73 m2 (P risk 0.42; 95% confidence interval 0.19-0.93; P = 0.02). Lyso-Gb3 remained stable in the switch (P = 0.97) and the regular-dose (P = 0.48) groups, but decreased in the re-switch group after change of the therapy regimen (P < 0.05). After switch to agalsidase-alfa, Fabry patients experienced a continuous decline in eGFR, while this decline was attenuated in patients who were re-switched to agalsidase-beta. Decreasing lyso-Gb3 levels may indicate a better treatment response in the latter group. © The Author 2017. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

  1. The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease.

    Science.gov (United States)

    Moon, James C; Sheppard, Mary; Reed, Emma; Lee, Phillip; Elliott, Perry M; Pennell, Dudley J

    2006-01-01

    Anderson-Fabry Disease (AFD) is a storage disease that mimics hypertrophic cardiomyopathy. Late gadolinium enhancement (LGE) by cardiovascular magnetic resonance occurs in approximately 50% of patients in the basal inferolateral LV wall, but how an intracellular storage disease causes focal LGE is unknown. We present a whole-heart histological validation that LGE is caused by focal myocardial collagen scarring. This scarring may be the substrate for electrical re-entry and sudden arrhythmic death. The reasons for this distribution of fibrosis are unclear, but may reflect inhomogeneous left ventricular wall stress.

  2. Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease.

    Science.gov (United States)

    Patel, Vimal; O'Mahony, Constantinos; Hughes, Derralynn; Rahman, Mohammad Shafiqur; Coats, Caroline; Murphy, Elaine; Lachmann, Robin; Mehta, Atul; Elliott, Perry M

    2015-06-01

    Anderson-Fabry Disease (AFD) is an X linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Some mutations are associated with prominent and, in many cases, exclusive cardiac involvement. The primary aims of this study were to determine the incidence of major cardiac events in AFD and to identify clinical and genetic predictors of adverse outcomes. We studied 207 patients with AFD (47% male, mean age 44 years, mean follow-up 7.1 years). Fifty-eight (28%) individuals carried mutations that have been previously associated with a cardiac predominant phenotype. Twenty-one (10%) developed severe heart failure (New York Heart Association functional class (NYHA) ≥3), 13 (6%) developed atrial fibrillation (AF), 13 (6%) received devices for the treatment of bradycardia; there were a total of 7 (3%) cardiac deaths. The incidence of the primary endpoint (a composite of new onset AF, NYHA ≥ 3 symptoms, device insertion for bradycardia and cardiac death) was 2.64 per 100 person-years (CI 1.78 to 3.77). Age (HR 1.04, CI 1.01 to 1.08, p=0.004), Mainz Severity Score Index score (HR 1.05, CI 1.01 to 1.09, p=0.012) and QRS duration (HR 1.03, CI 1.00 to 1.05, p=0.020) were significant independent predictors of the primary endpoint. The presence of a cardiac genetic variant did not predict the primary end point. AFD is associated with a high burden of cardiac morbidity and mortality. Adverse cardiac outcomes are associated with age, global disease severity and advanced cardiac disease but not the presence of cardiac genetic variants. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  3. Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34+ Cells for Correction of Fabry Disease

    Directory of Open Access Journals (Sweden)

    Ju Huang

    2017-06-01

    Full Text Available Fabry disease is a rare lysosomal storage disorder (LSD. We designed multiple recombinant lentivirus vectors (LVs and tested their ability to engineer expression of human α-galactosidase A (α-gal A in transduced Fabry patient CD34+ hematopoietic cells. We further investigated the safety and efficacy of a clinically directed vector, LV/AGA, in both ex vivo cell culture studies and animal models. Fabry mice transplanted with LV/AGA-transduced hematopoietic cells demonstrated α-gal A activity increases and lipid reductions in multiple tissues at 6 months after transplantation. Next we found that LV/AGA-transduced Fabry patient CD34+ hematopoietic cells produced even higher levels of α-gal A activity than normal CD34+ hematopoietic cells. We successfully transduced Fabry patient CD34+ hematopoietic cells with “near-clinical grade” LV/AGA in small-scale cultures and then validated a clinically directed scale-up transduction process in a GMP-compliant cell processing facility. LV-transduced Fabry patient CD34+ hematopoietic cells were subsequently infused into NOD/SCID/Fabry (NSF mice; α-gal A activity corrections and lipid reductions were observed in several tissues 12 weeks after the xenotransplantation. Additional toxicology studies employing NSF mice xenotransplanted with the therapeutic cell product demonstrated minimal untoward effects. These data supported our successful clinical trial application (CTA to Health Canada and opening of a “first-in-the-world” gene therapy trial for Fabry disease.

  4. Cardiac sympathetic neuronal damage precedes myocardial fibrosis in patients with Anderson-Fabry disease

    International Nuclear Information System (INIS)

    Imbriaco, Massimo; Piscopo, Valentina; Ponsiglione, Andrea; Nappi, Carmela; Puglia, Marta; Dell'Aversana, Serena; Spinelli, Letizia; Cuocolo, Alberto; Pellegrino, Teresa; Petretta, Mario; Riccio, Eleonora; Pisani, Antonio

    2017-01-01

    Cardiac sympathetic denervation may be detectable in patients with Anderson-Fabry disease (AFD), suggesting its usefulness for early detection of the disease. However, the relationship between sympathetic neuronal damage measured by 123 I-metaiodobenzylguanidine (MIBG) imaging with myocardial fibrosis on cardiac magnetic resonance (CMR) is still unclear. Cardiac sympathetic innervation was assessed by 123 I-MIBG single-photon emission computed tomography (SPECT) in 25 patients with genetically proved AFD. Within one month from MIBG imaging, all patients underwent contrast-enhanced CMR. MIBG defect size and fibrosis size on CMR were measured for the left ventricle (LV) and expressed as %LV. Patients were divided into three groups according to MIBG and CMR findings: (1) matched normal, without MIBG defects and without fibrosis on CMR (n = 10); (2) unmatched, with MIBG defect but without fibrosis (n = 5); and (3) matched abnormal, with MIBG defect and fibrosis (n = 10). The three groups did not differ with respect to age, gender, α-galactosidase, proteinuria, glomerular filtration rate, and troponin I, while New York Heart Association class (p = 0.008), LV hypertrophy (p = 0.05), and enzyme replacement therapy (p = 0.02) were different among groups. Although in patients with matched abnormal findings, there was a significant correlation between MIBG defect size and area of fibrosis at CMR (r 2 = 0.98, p < 0.001), MIBG defect size was larger than fibrosis size (26 ± 23 vs. 18 ± 13%LV, p = 0.02). Sympathetic neuronal damage is frequent in AFD patients, and it may precede myocardial damage, such as fibrosis. Thus, 123 I-MIBG imaging can be considered a challenging technique for early detection of cardiac involvement in AFD. (orig.)

  5. Cardiac sympathetic neuronal damage precedes myocardial fibrosis in patients with Anderson-Fabry disease

    Energy Technology Data Exchange (ETDEWEB)

    Imbriaco, Massimo; Piscopo, Valentina; Ponsiglione, Andrea; Nappi, Carmela; Puglia, Marta; Dell' Aversana, Serena; Spinelli, Letizia; Cuocolo, Alberto [University Federico II, Department of Advanced Biomedical Sciences, Naples (Italy); Pellegrino, Teresa [National Council of Research, Institute of Biostructure and Bioimaging, Naples (Italy); Petretta, Mario [University Federico II, Department of Translational Medical Sciences, Naples (Italy); Riccio, Eleonora; Pisani, Antonio [University of Naples Federico II, Department of Public Health, Naples (Italy)

    2017-12-15

    Cardiac sympathetic denervation may be detectable in patients with Anderson-Fabry disease (AFD), suggesting its usefulness for early detection of the disease. However, the relationship between sympathetic neuronal damage measured by {sup 123}I-metaiodobenzylguanidine (MIBG) imaging with myocardial fibrosis on cardiac magnetic resonance (CMR) is still unclear. Cardiac sympathetic innervation was assessed by {sup 123}I-MIBG single-photon emission computed tomography (SPECT) in 25 patients with genetically proved AFD. Within one month from MIBG imaging, all patients underwent contrast-enhanced CMR. MIBG defect size and fibrosis size on CMR were measured for the left ventricle (LV) and expressed as %LV. Patients were divided into three groups according to MIBG and CMR findings: (1) matched normal, without MIBG defects and without fibrosis on CMR (n = 10); (2) unmatched, with MIBG defect but without fibrosis (n = 5); and (3) matched abnormal, with MIBG defect and fibrosis (n = 10). The three groups did not differ with respect to age, gender, α-galactosidase, proteinuria, glomerular filtration rate, and troponin I, while New York Heart Association class (p = 0.008), LV hypertrophy (p = 0.05), and enzyme replacement therapy (p = 0.02) were different among groups. Although in patients with matched abnormal findings, there was a significant correlation between MIBG defect size and area of fibrosis at CMR (r{sup 2} = 0.98, p < 0.001), MIBG defect size was larger than fibrosis size (26 ± 23 vs. 18 ± 13%LV, p = 0.02). Sympathetic neuronal damage is frequent in AFD patients, and it may precede myocardial damage, such as fibrosis. Thus, {sup 123}I-MIBG imaging can be considered a challenging technique for early detection of cardiac involvement in AFD. (orig.)

  6. Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology

    OpenAIRE

    Sechi, Annalisa; Nucifora, Gaetano; Piccoli, Gianluca; Dardis, Andrea; Bembi, Bruno

    2014-01-01

    Background Cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE) imaging is increasingly used to assess myocardial involvement in patients with Fabry disease, an X linked lipid storage disorder. However, it is often proposed as an optional tool. A different cardiomyopathic disease progression between male and female patients was hypothesised in previous studies, as in female myocardial fibrosis was found without left ventricular (LV) hypertrophy, while myocardial fibr...

  7. Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

    Science.gov (United States)

    Hsu, Ting-Rong; Hung, Sheng-Che; Chang, Fu-Pang; Yu, Wen-Chung; Sung, Shih-Hsien; Hsu, Chia-Lin; Dzhagalov, Ivan; Yang, Chia-Feng; Chu, Tzu-Hung; Lee, Han-Jui; Lu, Yung-Hsiu; Chang, Sheng-Kai; Liao, Hsuan-Chieh; Lin, Hsiang-Yu; Liao, Tsan-Chieh; Lee, Pi-Chang; Li, Hsing-Yuan; Yang, An-Hang; Ho, Hui-Chen; Chiang, Chuan-Chi; Lin, Ching-Yuang; Desnick, Robert J; Niu, Dau-Ming

    2016-12-13

    Recently, several studies revealed a much higher prevalence of later onset Fabry disease (FD) than previously expected. It suggested that later onset FD might present as an important hidden health issue in certain ethnic or demographic populations in the world. However, the natural history of its phenotype has not been systemically investigated, especially the cardiac involvement. The study analyzed a large-scale newborn screening program for FD to understand the natural course of later onset FD. To date, 916,383 newborns have been screened for FD in Taiwan, including more than 1,200 individuals with the common, later onset IVS4+919G>A (IVS4) mutation. Echocardiography was performed in 620 adults with the IVS4 mutation to analyze the prevalence of left ventricular hypertrophy (LVH), and gadolinium-enhanced cardiac magnetic resonance imaging was performed in 129 patients with FD, including 100 IVS4 adults. LVH was observed in 67% of men and 32% of women older than 40 years. Imaging evidenced significant late gadolinium enhancement in 38.1% of IVS4 men and 16.7% of IVS4 women with the IVS4 mutation but without LVH. Seventeen patients underwent endomyocardial biopsies, which revealed significant globotriaosylceramide substrate accumulation in their cardiomyocytes. Significant cardiomyocyte substrate accumulation in IVS4 patients led to severe and irreversible cardiac fibrosis before development of LVH or other significant cardiac manifestations. Thus, it might be too late to start enzyme replacement therapy after the occurrence of LVH or other significant cardiac manifestations in patients with later onset FD. This study also indicated the importance of newborn screening for early detection of the insidious, ongoing, irreversible cardiac damage in patients with later onset FD. Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  8. Cardiac and renal dysfunction is associated with progressive hearing loss in patients with Fabry disease.

    Directory of Open Access Journals (Sweden)

    Maria Köping

    Full Text Available 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.To examine hearing loss in patients with FD depending on cardiac and renal function.Single-center study with 68 FD patients enrolled between 2012 and 2016 at the Department of Oto-Rhino-Laryngology, Plastic, Aesthetic and Reconstructive Head and Neck Surgery of the University of Würzburg. Every subject underwent an oto-rhino-laryngological examination as well as behavioral, electrophysiological and electroacoustical audiological testing. High-frequency thresholds were evaluated by using a modified PTA6 (0.5, 1, 2, 4, 6, 8 and HF-PTA (6, 8 kHz. Renal function was measured by eGFR, cardiac impairment was graduated by NYHA class.Sensorineural hearing loss was detected in 58.8% of the cohort, which occurred typically in sudden episodes and affected especially high frequencies. Hearing loss is asymmetric, beginning unilaterally and affecting the contralateral ear later. Tinnitus was reported by 41.2%. Renal and cardiac impairment influenced the severity of hearing loss (p < 0.05.High frequency hearing loss is a common problem in patients with FD. Although not life-threatening, it can seriously reduce quality of life and should be taken into account in diagnosis and therapy. Optimized extensive hearing assessment including higher frequency thresholds should be used.

  9. Thromboembolic events in Fabry disease and the impact of factor V Leiden.

    Science.gov (United States)

    Lenders, Malte; Karabul, Nesrin; Duning, Thomas; Schmitz, Boris; Schelleckes, Michael; Mesters, Rolf; Hense, Hans-Werner; Beck, Michael; Brand, Stefan-Martin; Brand, Eva

    2015-03-10

    Although several reports suggest an increased thromboembolic event rate, especially regarding strokes and TIAs at early age in patients with Fabry disease (FD), the risk for patients with FD to experience these events, the clinical relevance of additional risk factors including the concurrence of factor V Leiden (FVL), and the benefit of enzyme replacement therapy (ERT) regarding these events remain unclear. Three hundred four consecutively recruited patients with FD were evaluated for their lifetime occurrence of thromboembolic events such as stroke, TIA, deep vein thrombosis, and pulmonary embolism. The thromboembolic risk was determined in patients with FD and concurrent FVL, and the impact of ERT was assessed. The 304 patients with FD had a median age of 41 years and 53 (17.4%) had experienced at least one thromboembolic event during their lifetime. Among 226 patients with FD screened for FVL, 16 gene carriers were identified (7.1%). The occurrence of thromboembolic events in patients with FD and concurrent FVL was significantly increased compared to those without FVL (hazard ratio = 5.45, 95% confidence interval 2.29-12.99; p risk of thromboembolic events compared to those without ERT (hazard ratio = 0.362, 95% confidence interval 0.132-0.992; p = 0.0422). This observational study confirms that patients with FD have a high risk of clinically relevant thromboembolic events, which could be aggravated by a concurrence of FVL. ERT might be of benefit in preventing vascular events in patients with FD. The latter observation needs confirmation, however, by randomized and controlled clinical trials. © 2015 American Academy of Neurology.

  10. Renal function predicts long-term outcome on enzyme replacement therapy in patients with Fabry disease.

    Science.gov (United States)

    Lenders, Malte; Schmitz, Boris; Stypmann, Jörg; Duning, Thomas; Brand, Stefan-Martin; Kurschat, Christine; Brand, Eva

    2017-12-01

    Renal and cardiac involvement is responsible for substantial morbidity and mortality in Fabry disease (FD). We analysed the incidence of FD-related renal, cardiac and neurologic end points in patients with FD on long-term enzyme replacement therapy (ERT). A retrospective analysis of prospectively collected data from two German FD centres was performed. The impact of renal and cardiac function at ERT-naïve baseline on end point development despite ERT was analysed. Fifty-four patients (28 females) receiving ERT (mean 81 ± 21 months) were investigated. Forty per cent of patients were diagnosed with clinical end points before ERT initiation and 50% of patients on ERT developed new clinical end points. In patients initially diagnosed with an end point before ERT initiation, the risk for an additional end point on ERT was increased {hazard ratio [HR] 3.83 [95% confidence interval (CI) 1.61-9.08]; P = 0.0023}. A decreased glomerular filtration rate (eGFR) ≤75 mL/min/1.73 m2 in ERT-naïve patients at baseline was associated with an increased risk for cardiovascular end points [HR 3.59 (95% CI 1.15-11.18); P = 0.0273] as well as for combined renal, cardiac and neurologic end points on ERT [HR 4.77 (95% CI 1.93-11.81); P = 0.0007]. In patients with normal kidney function, left ventricular hypertrophy at baseline predicted a decreased end point-free survival [HR 6.90 (95% CI 2.04-23.27); P = 0.0018]. The risk to develop an end point was independent of sex. In addition to age, even moderately impaired renal function determines FD progression on ERT. In patients with FD, renal and cardiac protection is warranted to prevent patients from deleterious manifestations of the disease. © The Author 2016. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

  11. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium.

    Science.gov (United States)

    Moon, James C C; Sachdev, Bhavesh; Elkington, Andrew G; McKenna, William J; Mehta, Atul; Pennell, Dudley J; Leed, Philip J; Elliott, Perry M

    2003-12-01

    Anderson-Fabry Disease (AFD), an X-linked disorder of sphingolipid metabolism, is a cause of idiopathic left ventricular hypertrophy but the mechanism of hypertrophy is poorly understood. Gadolinium enhanced cardiovascular magnetic resonance can detect focal myocardial fibrosis. We hypothesised that hyperenhancement would be present in AFD. Eighteen males (mean 43+/-14 years) and eight female heterozygotes (mean 48+/-12 years) with AFD underwent cine and late gadolinium cardiovascular magnetic resonance. Nine male (50%) had myocardial hyperenhancement ranging from 3.4% to 20.6% (mean 7.7+/-5.7%) of total myocardium; in males, percentage hyperenhancement related to LV mass index (r=0.78, P=0.0002) but not to ejection fraction or left ventricular volumes. Lesser hyperenhancement was also found in four (50%) heterozygous females (mean 4.6%). In 12 (92%) patients with abnormal gadolinium uptake, hyperenhancement occurred in the basal infero-lateral wall where, unlike myocardial infarction, it was not sub-endocardial. In two male patients with severe LVH (left ventricular hypertrophy) and systolic impairment there was additional hyperenhancement in other myocardial segments. These observations suggests that myocardial fibrosis occurs in AFD and may contribute to the hypertrophy and the natural history of the disease.

  12. Auditing the frequency and the clinical and economic impact of testing for Fabry disease in patients under the age of 70 with a stroke admitted to Saint Vincent's University Hospital over a 6-month period.

    Science.gov (United States)

    Lambe, J; Noone, I; Lonergan, R; Tubridy, N

    2018-02-01

    Fabry disease is an X-linked recessive lysosomal storage disorder that provokes multi-organ morbidity, including early-onset stroke. Worldwide prevalence may be greater than previously estimated, with many experiencing first stroke prior to diagnosis of Fabry disease. The aim of this study is to screen a cohort of stroke patients under 70 years of age, evaluating the clinical and economic efficacy of such a broad screening programme for Fabry disease. All stroke patients under 70 years of age who were entered into the Saint Vincent's University Hospital stroke database over a 6-month period underwent enzyme analysis and/or genetic testing as appropriate for Fabry disease. Patients' past medical histories were analysed for clinical signs suggestive of Fabry disease. Cost-effectiveness analysis of testing was performed and compared to overall economic impact of young stroke in Ireland. Of 22 patients tested for Fabry disease, no new cases were detected. Few clinical indicators of Fabry disease were identified at the time of testing. Broad screening programmes for Fabry disease are highly unlikely to offset the cost of testing. The efficacy of future screening programmes will depend on careful selection of an appropriate patient cohort of young stroke patients with multi-organ morbidity and a positive family history.

  13. Awareness of Fabry disease in cardiology: A gap to be filled.

    Science.gov (United States)

    Brito, Dulce; Cardim, Nuno; Lopes, Luís Rocha; Belo, Adriana; Mimoso, Jorge; Gonçalves, Lino; Madeira, Hugo

    2018-05-22

    In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists' awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy. A total of 811 index patients, aged 55 ± 16 years, 486 (59.9%) male, were included. Three groups were characterized: A - 128 patients, 74 (57.8%) male, with pathogenic or likely pathogenic mutation(s) in sarcomeric genes; B - 234 patients, 146 (62.4%) male, with negative genetic testing; and C - 449 patients, 266 (59.2%) male, no genetic testing performed. The groups were compared in terms of whether FD was excluded in the registry. Potential red flags for FD were also analyzed and compared between groups. Patients in group A were younger and more frequently had familial HCM (A - 53.9% vs. B - 20.1% vs. C - 18.3%; p <0.001). FD was recorded as excluded in 217 (26.8%), similar in all groups; GLA gene testing was performed in only 50/217 patients (A - 48.6%, B - 25.7%, p = 0.019; C - 13.4%, p = 0.036 for B vs. C), mostly in women (p <0.001) in groups B and C. Alpha-galactosidase A (α-Gal A) activity was assessed in 39/217 (18%) patients, with no difference between groups, but more often in men (p = 0.005). Among patients with potential red flags for FD, only 46.7% underwent specific tests (GLA gene testing and/or α-Gal A activity). When GLA genotyping was performed no mutations were identified. There is a need to improve cardiologists' alertness for the identification of FD among the Portuguese HCM population. Copyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  14. Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy

    Czech Academy of Sciences Publication Activity Database

    Vyleťal, P.; Hůlková, H.; Živná, M.; Berná, L.; Novák, Petr; Elleder, M.; Kmoch, S.

    2008-01-01

    Roč. 31, č. 4 (2008), s. 508-517 ISSN 0141-8955 Institutional research plan: CEZ:AV0Z50200510 Keywords : uromodulin * fabry disease * tubular cell Subject RIV: EE - Microbiology, Virology Impact factor: 2.691, year: 2008

  15. Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

    NARCIS (Netherlands)

    van der Tol, L.; Cassiman, David; Houge, Gunnar; Janssen, Mirian C.; Lachmann, Robin H.; Linthorst, Gabor E.; Ramaswami, Uma; Sommer, Claudia; Tøndel, Camilla; West, Michael L.; Weidemann, Frank; Wijburg, Frits A.; Svarstad, Einar; Hollak, Carla E. M.; Biegstraaten, Marieke

    2014-01-01

    Introduction: Individuals with neuropathic pain, angiokeratoma (AK) and/or cornea verticillata (CV) may be tested for Fabry disease (FD). Classical FD is characterised by a specific pattern of these features. When a patient presents with a non-specific pattern, the pathogenicity of a variant in the

  16. Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up

    NARCIS (Netherlands)

    Tol, L. van der; Cassiman, D.; Houge, G.; Janssen, M.C.; Lachmann, R.H.; Linthorst, G.E.; Ramaswami, U.; Sommer, C.; Tondel, C.; West, M.L.; Weidemann, F.; Wijburg, F.A.; Svarstad, E.; Hollak, C.E.M.; Biegstraaten, M.

    2014-01-01

    INTRODUCTION: Individuals with neuropathic pain, angiokeratoma (AK) and/or cornea verticillata (CV) may be tested for Fabry disease (FD). Classical FD is characterised by a specific pattern of these features. When a patient presents with a non-specific pattern, the pathogenicity of a variant in the

  17. Córnea verticilata - marcador clínico da doença de Fabry: relato de caso Cornea verticillata - a clinical marker of Fabry disease: case report

    Directory of Open Access Journals (Sweden)

    Cynthia Azeredo Cordeiro

    2007-08-01

    Full Text Available A doença de Fabry é erro inato do metabolismo dos glicoesfingolipídeos (GL, resultante da atividade deficiente da enzima alfa-galactosidase A (a-Gal, com herança ligada ao cromossomo X. O acúmulo progressivo de GL nos tecidos resulta nas manifestações clínicas da doença, mais evidentes em homens hemizigotos, e incluem angioqueratomas, acroparestesias, córnea verticilata, hipo-hidrose, envolvimento cardíaco, renal e manifestações cerebrovasculares. Foi realizada avaliação em família acometida pela doença, sendo dois pacientes do sexo feminino e três do sexo masculino. Todos os pacientes foram submetidos a anamnese, exame oftalmológico completo e dosagem da atividade da enzima a-Gal. O único achado clínico presente em todos foi a córnea verticilata. Isto demonstra o importante papel que o exame oftalmológico apresenta no diagnóstico da doença, já que as alterações oculares são tão características.Fabry's disease is a rare X-linked lisosomal storage disorder of glycosphingolipid (GL metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvement, cerebrovascular manifestations. A family with Fabry's disease including 2 female patients and 3 male patients is reported. The patients were submitted to complete medical history, ophthalmological examination and alpha-galactosidase activity test. Cornea verticillata was a constant finding in all patients. This demonstrates the important role of the ophtalmological examination for the diagnosis of Fabry's disease since the eye findings are so characteristic of the disease.

  18. Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.

    Science.gov (United States)

    Lu, Yung-Hsiu; Huang, Po-Hsun; Wang, Li-Yun; Hsu, Ting-Rong; Li, Hsing-Yuan; Lee, Pi-Chang; Hsieh, Yu-Ping; Hung, Sheng-Che; Wang, Yu-Chen; Chang, Sheng-Kai; Lee, Ya-Ting; Ho, Ping-Hsun; Ho, Hui-Chen; Niu, Dau-Ming

    2018-01-01

    Many female carriers of Fabry disease are likely to develop severe morbidity and mortality. However, by our own estimation, around 80% of female newborns are missed by our current enzyme-based screening approach. Our team's aim was to develop an improved cost-effective screening method that is able to detect Fabry disease among female newborns. In Taiwan, based on a database of 916,000 newborns, ~98% of Fabry patients carry mutations out of a pool of only 21 pathogenic mutations. An Agena iPLEX platform was designed to detect these 21 pathogenic mutations using only a single-assay panel. A total of 54,791 female infants were screened and 136 female newborns with the IVS4 + 919G > A mutation and one female newborn with the c.656T > C mutation were identified. Using the current enzyme-based newborn screening approach as baseline, around 83% of female newborns are being missed. Through a family study of the IVS4 female newborns, 30 IVS4 adult family members were found to have left ventricular hypertrophy. Ten patients received endomyocardial biopsy and all were found to have significant globotriaosylceramide (Gb3) accumulation in their cardiomyocytes. All of these individuals now receive enzyme replacement therapy. We have demonstrated that the Agena iPLEX assay is a powerful tool for detecting females with Fabry disease. Furthermore, through this screening, we also have been able to identify many disease-onset adult family members who were originally undiagnosed for Fabry disease. This screening helps them to receive treatment in time before severe and irreversible cardiac damage has occurred.

  19. Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies.

    Science.gov (United States)

    El Dib, Regina; Gomaa, Huda; Ortiz, Alberto; Politei, Juan; Kapoor, Anil; Barreto, Fellype

    2017-01-01

    Anderson-Fabry disease (AFD) is an X-linked recessive inborn error of glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A. Renal failure, heart and cerebrovascular involvement reduce survival. A Cochrane review provided little evidence on the use of enzyme replacement therapy (ERT). We now complement this review through a linear regression and a pooled analysis of proportions from cohort studies. To evaluate the efficacy and safety of ERT for AFD. For the systematic review, a literature search was performed, from inception to March 2016, using Medline, EMBASE and LILACS. Inclusion criteria were cohort studies, patients with AFD on ERT or natural history, and at least one patient-important outcome (all-cause mortality, renal, cardiovascular or cerebrovascular events, and adverse events) reported. The pooled proportion and the confidence interval (CI) are shown for each outcome. Simple linear regressions for composite endpoints were performed. 77 cohort studies involving 15,305 participants proved eligible. The pooled proportions were as follows: a) for renal complications, agalsidase alfa 15.3% [95% CI 0.048, 0.303; I2 = 77.2%, p = 0.0005]; agalsidase beta 6% [95% CI 0.04, 0.07; I2 = not applicable]; and untreated patients 21.4% [95% CI 0.1522, 0.2835; I2 = 89.6%, plinear regression showed that Fabry patients receiving agalsidase alfa are more likely to have higher rates of composite endpoints compared to those receiving agalsidase beta. Agalsidase beta is associated to a significantly lower incidence of renal, cardiovascular and cerebrovascular events than no ERT, and to a significantly lower incidence of cerebrovascular events than agalsidase alfa. In view of these results, the use of agalsidase beta for preventing major organ complications related to AFD can be recommended.

  20. [Court-ordered access to treatment of rare genetic diseases: Fabry Disease in the state of Rio Grande do Sul, Brazil].

    Science.gov (United States)

    Sartori Junior, Dailor; Leivas, Paulo Gilberto Cogo; Souza, Mônica Vinhas de; Krug, Bárbara Corrêa; Balbinotto, Giacomo; Schwartz, Ida Vanessa Doederlein

    2012-10-01

    Court-ordered access to high-cost drugs for rare genetic diseases, such as Fabry Disease (alpha-galactosidase-A deficiency), is a growing phenomenon as yet lacking systematic study. An observational, cross-sectional and retrospective study was conducted to characterize the lawsuits related to access to treatment for Fabry Disease by Enzyme Replacement Therapy in the State of Rio Grande do Sul prior to 2007. The study identified 13 lawsuits and 17 plaintiffs, 11 requesting alfa and 6 betagalsidase. The State of RS, the Federal Government, and 5 municipalities figured as defendants, in the form of joinder of parties or otherwise. There were 13 requests for interlocutory relief of which 12 were granted, and 2 sentences were handed down, both favorable. "Risk of death" was alleged by doctors in 4 prescriptions and by lawyers in the 13 lawsuits. The data suggest the lack of discussions combining aspects of medical efficacy and safety, cost-effectiveness, economic impact, and legal and constitutional arguments, which requires a specific policy for rare genetic diseases to standardize access to treatment.

  1. High-Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3 ) in Urine Collected on Filter Paper.

    Science.gov (United States)

    Auray-Blais, Christiane; Lavoie, Pamela; Boutin, Michel; Abaoui, Mona

    2017-04-06

    Fabry disease is a complex, panethnic lysosomal storage disorder. It is characterized by the accumulation of glycosphingolipids in tissues, organs, the vascular endothelium, and biological fluids. The reported incidence in different populations is quite variable, ranging from 1:1400 to 1:117,000. Its complexity lies in the marked genotypic and phenotypic heterogeneity. Despite the fact that it is an X-linked disease, more than 600 mutations affect both males and females. In fact, some females may be affected as severely as males. The purpose of this protocol is to focus on the high-risk screening of patients who might have Fabry disease using a simple, rapid, non-invasive high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) method for urinary globotriaosylceramide (Gb 3 ) analysis. Urine filter paper samples are easily collected at home by patients and sent by regular mail. This method has been successfully used for high-risk screening of patients with ophthalmologic manifestations and in an on-going study for high-risk screening of Fabry disease in patients with chronic kidney diseases. © 2017 by John Wiley & Sons, Inc. Copyright © 2017 John Wiley & Sons, Inc.

  2. Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report

    Directory of Open Access Journals (Sweden)

    Bonapace Giuseppe

    2010-05-01

    Full Text Available Abstract Background The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU is an inborn error of the metabolism resulting from a phenylalanine hydroxylase deficiency. Fabry disease (FD is an X-linked lysosomal storage disorder due to a deficiency of the enzyme alpha-galactosidase A. Case presentation We report a case of a 3 year- old boy affected by classic PKU and FD, both confirmed by molecular data. The FD was suspected at the age of 21 months on the presence of non-specific GI symptoms (severe abdominal pain and periodically appearance of not specific episodes of gastroenteritis apparently non related to PKU. Conclusion This is the first report of co-existence of FD and PKU, two different congenital inborn of metabolism and in consideration of the prevalence of each disease this chance association is a very unusual event. The co-existence of this diseases made very difficult the correct interpretation of clinical symptoms as lack of appetite, severe abdominal pain and non-specific gastroenteritis episodes. Furthermore, this case report helps to define the early clinical phenotype of FD.

  3. Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice.

    Science.gov (United States)

    Baig, Shanat; Edward, Nicky C; Kotecha, Dipak; Liu, Boyang; Nordin, Sabrina; Kozor, Rebecca; Moon, James C; Geberhiwot, Tarekegn; Steeds, Richard P

    2017-10-17

    Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A enzyme. Cardiovascular (CV) disease is a common cause of mortality in FD, in particular as a result of heart failure and arrhythmia, with a significant proportion of events categorized as sudden. There are no clear models for risk prediction in FD. This systematic review aims to identify the risk factors for ventricular arrhythmia (VA) and sudden cardiac deaths (SCD) in FD. A systematic search was performed following PRISMA guidelines of EMBASE, Medline, PubMed, Web of Science, and Cochrane from inception to August 2016, focusing on identification of risk factors for the development of VA or SCD. Thirteen studies were included in the review (n = 4185 patients) from 1189 articles, with follow-up of 1.2-10 years. Weighted average age was 37.6 years, and 50% were male. Death from any cause was reported in 8.3%. Of these, 75% was due to CV problems, with the majority being SCD events (62% of reported deaths). Ventricular tachycardia was reported in 7 studies, with an average prevalence of 15.3%. Risk factors associated with SCD events were age, male gender, left ventricular hypertrophy, late gadolinium enhancement on CV magnetic resonance imaging, and non-sustained ventricular tachycardia. Although a multi-system disease, FD is a predominantly cardiac disease from a mortality perspective, with death mainly from SCD events. Limited evidence highlights the importance of clinical and imaging risk factors that could contribute to improved decision-making in the management of FD. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For Permissions, please email: journals.permissions@oup.com.

  4. Use of Myocardial T1 Mapping at 3.0 T to Differentiate Anderson-Fabry Disease from Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Karur, Gauri R; Robison, Sean; Iwanochko, Robert M; Morel, Chantal F; Crean, Andrew M; Thavendiranathan, Paaladinesh; Nguyen, Elsie T; Mathur, Shobhit; Wasim, Syed; Hanneman, Kate

    2018-04-24

    Purpose To compare left ventricular (LV) and right ventricular (RV) 3.0-T cardiac magnetic resonance (MR) imaging T1 values in Anderson-Fabry disease (AFD) and hypertrophic cardiomyopathy (HCM) and evaluate the diagnostic value of native T1 values beyond age, sex, and conventional imaging features. Materials and Methods For this prospective study, 30 patients with gene-positive AFD (37% male; mean age ± standard deviation, 45.0 years ± 14.1) and 30 patients with HCM (57% male; mean age, 49.3 years ± 13.5) were prospectively recruited between June 2016 and September 2017 to undergo cardiac MR imaging T1 mapping with a modified Look-Locker inversion recovery (MOLLI) acquisition scheme at 3.0 T (repetition time msec/echo time msec, 280/1.12; section thickness, 8 mm). LV and RV T1 values were evaluated. Statistical analysis included independent samples t test, receiver operating characteristic curve analysis, multivariable logistic regression, and likelihood ratio test. Results Septal LV, global LV, and RV native T1 values were significantly lower in AFD compared with those in HCM (1161 msec ± 47 vs 1296 msec ± 55, respectively [P 3.0 T are significantly lower in patients with AFD compared with those with HCM and provide independent and incremental diagnostic value beyond age, sex, and conventional imaging features. © RSNA, 2018.

  5. Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.

    Science.gov (United States)

    San Román-Monserrat, Irene; Moreno-Flores, Victoria; López-Cuenca, David; Rodríguez-González-Herrero, Elena; Guillén-Navarro, Encarna; Rodríguez-González-Herrero, Beatriz; Alegría-Fernández, Marisol; Poza-Cisneros, Gabriela; Piñero-Fernández, Juan A; Sornichero-Martínez, Javier; Gimeno-Blanes, Juan R

    2014-06-06

    Fabry disease is an X-linked multisystemic lysosomal-storage condition. We describe a large family with a novel GLA mutation: p.M187R/g7219 T>G. Anamnesis/physical-exam, blood/urine analysis, α-Gal-A activity and/or genetic study of at-risk individuals and multidisciplinary evaluation in confirmed cases. 4 males and 13 heterozygous-females displayed the mutation. Cardiac/renal/neurological disease was diagnosed at a mean age of 41/29/39 years in males and 51/56/46 years in females. Onset mean age was 20 years versus 42 years. 9/15 had cardiomyopathy. Delta wave suggestive of accessory pathway was identified in 1 male and 2 females. 1 female had cardiac arrest (ventricular fibrillation, 61 years). 2 females and 1 male died suddenly (63, 64 and 57 years). Cardiac-subscore of Mainz Severity-Score-Index was severe for males and females over 40 years. 4/15(26%) developed early renal disease. 2 males needed dialysis. 1 male died at 69 years in spite of kidney-heart transplant. We describe the largest genetically confirmed Spanish family using multidisciplinary evaluation and MSSI calculation. The novel mutation p.M187R/g7219 T>G is associated with a particularly malignant cardiac phenotype in males and females over 40 years. Severity was higher than that of the largest Spanish FOS-cohort. Short-PR with delta is being reported for the first time. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  6. Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

    Science.gov (United States)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J; Gardarsdottir, Marianna; Teekakirikul, Polakit; Maron, Martin; Appelbaum, Evan; Neisius, Ulf; Maron, Barry J; Burke, Michael A; Chen, Brenden; Pagant, Silvere; Madsen, Christoffer V; Danielsen, Ragnar; Arngrimsson, Reynir; Feldt-Rasmussen, Ulla; Seidman, Jonathan G; Seidman, Christine E; Gunnarsson, Gunnar Th

    2017-08-01

    The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA (α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes). Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation. In vitro expression revealed that p.D322E and p.I232T had α-GalA activities of 1.4% and 14.9% of the mean wild-type activity, respectively. Family A men had markedly decreased α-GalA activity and childhood-onset classic manifestations, except for angiokeratoma and cornea verticillata. Family B men had residual α-GalA activity and developed FD manifestations in adulthood. Despite these differences, all family A and family B men >30 years of age had left ventricular hypertrophy, which was mainly asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations. Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities. © 2017 American Heart Association, Inc.

  7. Urine Bikunin as a Marker of Renal Impairment in Fabry's Disease

    Directory of Open Access Journals (Sweden)

    Antonio Junior Lepedda

    2013-01-01

    Full Text Available Fabry’s disease is a rare lysosomal storage disorder caused by the deficiency of α-galactosidase A that leads to the accumulation of neutral glycosphingolipids in many organs including kidney, heart, and brain. Since end-stage renal disease represents a major complication of this pathology, the aim of the present work was to evaluate if urinary proteoglycan/glycosaminoglycan excretion could represent a useful marker for monitoring kidney function in these patients at high risk. Quali-quantitative and structural analyses were conducted on plasma and urine from 24 Fabry’s patients and 43 control subjects. Patients were sorted for presence and degree of renal impairment (proteinuria/renal damage. Results showed that levels of urine bikunin, also known as urinary trypsin inhibitor (UTI, are significantly higher in patients with renal impairment than in controls. In this respect, no differences were evidenced in plasma chondroitin sulfate isomers level/structure indicating a likely direct kidney involvement. Noteworthy, urine bikunin levels are higher in patients since early symptoms of renal impairment occur (proteinuria. Overall, our findings suggest that urine bikunin level, as well as proteinuria, could represent a useful parameter for monitoring renal function in those patients that do not present any symptoms of renal insufficiency.

  8. A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapy.

    Directory of Open Access Journals (Sweden)

    Andreas D Kistler

    Full Text Available Female patients affected by Fabry disease, an X-linked lysosomal storage disorder, exhibit a wide spectrum of symptoms, which renders diagnosis, and treatment decisions challenging. No diagnostic test, other than sequencing of the alpha-galactosidase A gene, is available and no biomarker has been proven useful to screen for the disease, predict disease course and monitor response to enzyme replacement therapy. Here, we used urine proteomic analysis based on capillary electrophoresis coupled to mass spectrometry and identified a biomarker profile in adult female Fabry patients. Urine samples were taken from 35 treatment-naïve female Fabry patients and were compared to 89 age-matched healthy controls. We found a diagnostic biomarker pattern that exhibited 88.2% sensitivity and 97.8% specificity when tested in an independent validation cohort consisting of 17 treatment-naïve Fabry patients and 45 controls. The model remained highly specific when applied to additional control patients with a variety of other renal, metabolic and cardiovascular diseases. Several of the 64 identified diagnostic biomarkers showed correlations with measures of disease severity. Notably, most biomarkers responded to enzyme replacement therapy, and 8 of 11 treated patients scored negative for Fabry disease in the diagnostic model. In conclusion, we defined a urinary biomarker model that seems to be of diagnostic use for Fabry disease in female patients and may be used to monitor response to enzyme replacement therapy.

  9. Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion

    DEFF Research Database (Denmark)

    Feldt-Rasmussen, Ulla; Dobrovolny, Robert; Nazarenko, Irina

    2011-01-01

    Fabry disease, an X-linked lysosomal storage disorder, results from the deficient activity of a-galactosidase A (a-Gal A). In affected males, the clinical diagnosis is confirmed by the markedly decreased a-Gal A activity. However, in female heterozygotes, the a-Gal A activity can range from low t...... on enzyme replacement therapy. Thus, gene dosage analyses can detect large deletions (>50bp) in suspect heterozygotes for X-linked and autosomal dominant diseases that are "sequencing cryptic," resolving molecular diagnostic dilemmas....

  10. First experience of simultaneous PET/MRI for the early detection of cardiac involvement in patients with Anderson-Fabry disease

    International Nuclear Information System (INIS)

    Nappi, Carmela; Altiero, Michele; Imbriaco, Massimo; Giudice, Caterina Anna; Spinelli, Letizia; Cuocolo, Alberto; Nicolai, Emanuele; Aiello, Marco; Diomiaiuti, Claudio Tommaso; Pisani, Antonio

    2015-01-01

    Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder associated with severe multiorgan dysfunction and premature death. Early diagnosis and treatment strategies play a key role in patient outcome. We investigated the potential role of hybrid PET/MR imaging in the assessment of early cardiac involvement in AFD patients. Thirteen AFD patients without cardiac symptoms and with normal left ventricular function underwent simultaneous cardiac PET/MR imaging after administration of 18 F-FDG. Cardiac FDG uptake was quantified by measuring the standardized uptake value in 17 myocardial segments in each subject. The coefficient of variation (COV, i.e. the standard deviation divided by the average) of the uptake of the 17 segments was calculated as an index of heterogeneity in the heart. Six patients exhibited focal late gadolinium enhancement (LGE) indicating intramyocardial fibrosis, and four of these also had positive short inversion time inversion recovery (STIR) sequences. All patients with LGE and positive STIR MR images showed focal FDG uptake in the corresponding myocardial segments indicating inflammation. Of the seven patients with negative LGE and STIR images, five showed homogeneous FDG cardiac uptake and two showed heterogeneous FDG uptake. The COV was significantly greater in patients with focal FDG uptake (0.25 ± 0.02) than in those without (0.14 ± 0.07, p < 0.01). PET/MR imaging is clinically feasible for the early detection of cardiac involvement in patients with AFD. Further studies evaluating the role of hybrid PET/MR imaging in management of the disease in larger patient populations are warranted. (orig.)

  11. First experience of simultaneous PET/MRI for the early detection of cardiac involvement in patients with Anderson-Fabry disease

    Energy Technology Data Exchange (ETDEWEB)

    Nappi, Carmela; Altiero, Michele; Imbriaco, Massimo; Giudice, Caterina Anna; Spinelli, Letizia; Cuocolo, Alberto [University Federico II, Department of Advanced Biomedical Sciences, Naples (Italy); Nicolai, Emanuele; Aiello, Marco; Diomiaiuti, Claudio Tommaso [IRCCS SDN, Naples (Italy); Pisani, Antonio [University Federico II, Department of Public Health, Naples (Italy)

    2015-03-26

    Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder associated with severe multiorgan dysfunction and premature death. Early diagnosis and treatment strategies play a key role in patient outcome. We investigated the potential role of hybrid PET/MR imaging in the assessment of early cardiac involvement in AFD patients. Thirteen AFD patients without cardiac symptoms and with normal left ventricular function underwent simultaneous cardiac PET/MR imaging after administration of {sup 18}F-FDG. Cardiac FDG uptake was quantified by measuring the standardized uptake value in 17 myocardial segments in each subject. The coefficient of variation (COV, i.e. the standard deviation divided by the average) of the uptake of the 17 segments was calculated as an index of heterogeneity in the heart. Six patients exhibited focal late gadolinium enhancement (LGE) indicating intramyocardial fibrosis, and four of these also had positive short inversion time inversion recovery (STIR) sequences. All patients with LGE and positive STIR MR images showed focal FDG uptake in the corresponding myocardial segments indicating inflammation. Of the seven patients with negative LGE and STIR images, five showed homogeneous FDG cardiac uptake and two showed heterogeneous FDG uptake. The COV was significantly greater in patients with focal FDG uptake (0.25 ± 0.02) than in those without (0.14 ± 0.07, p < 0.01). PET/MR imaging is clinically feasible for the early detection of cardiac involvement in patients with AFD. Further studies evaluating the role of hybrid PET/MR imaging in management of the disease in larger patient populations are warranted. (orig.)

  12. Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease.

    Science.gov (United States)

    Deva, Djeven Parameshvara; Hanneman, Kate; Li, Qin; Ng, Ming Yen; Wasim, Syed; Morel, Chantal; Iwanochko, Robert M; Thavendiranathan, Paaladinesh; Crean, Andrew Michael

    2016-03-31

    Although it is known that Anderson-Fabry Disease (AFD) can mimic the morphologic manifestations of hypertrophic cardiomyopathy (HCM) on echocardiography, there is a lack of cardiovascular magnetic resonance (CMR) literature on this. There is limited information in the published literature on the distribution of myocardial fibrosis in patients with AFD, with scar reported principally in the basal inferolateral midwall. All patients with confirmed AFD undergoing CMR at our center were included. Left ventricular (LV) volumes, wall thicknesses and scar were analyzed offline. Patients were categorized into 4 groups: (1) no wall thickening; (2) concentric hypertrophy; (3) asymmetric septal hypertrophy (ASH); and (4) apical hypertrophy. Charts were reviewed for clinical information. Thirty-nine patients were included (20 males [51%], median age 45.2 years [range 22.3-64.4]). Almost half (17/39) had concentric wall thickening. Almost half (17/39) had pathologic LV scar; three quarters of these (13/17) had typical inferolateral midwall scar. A quarter (9/39) had both concentric wall thickening and typical inferolateral scar. A subgroup with ASH and apical hypertrophy (n = 5) had greater maximum wall thickness, total LV scar, apical scar and mid-ventricular scar than those with concentric hypertrophy (n = 17, p < 0.05). Patients with elevated LVMI had more overall arrhythmia (p = 0.007) more ventricular arrhythmia (p = 0.007) and sustained ventricular tachycardia (p = 0.008). Concentric thickening and inferolateral mid-myocardial scar are the most common manifestations of AFD, but the spectrum includes cases morphologically identical to apical and ASH subtypes of HCM and these have more apical and mid-ventricular LV scar. Significant LVH is associated with ventricular arrhythmia.

  13. PrEFiNe Plan: Strategic plan for Fabry's diseases in Nephrology

    Directory of Open Access Journals (Sweden)

    M.D. del Pino

    2016-07-01

    Discussion: PrEfiNE project will evaluate an action plan focused on improving FD knowledge to make necessary recommendations for an early recognition of the disease. In addition will generate a plan to improve previously undetected needs.

  14. Quantitative comparison of 2D and 3D late gadolinium enhancement MR imaging in patients with Fabry disease and hypertrophic cardiomyopathy.

    Science.gov (United States)

    Morsbach, F; Gordic, S; Gruner, C; Niemann, M; Goetti, R; Gotschy, A; Kozerke, S; Alkadhi, H; Manka, R

    2016-08-15

    This study aims to determine whether the quantification of myocardial fibrosis in patients with Fabry disease (FD) and hypertrophic cardiomyopathy (HCM) using a late gadolinium enhancement (LGE) singlebreath-hold three-dimensional (3D) inversion recovery magnetic resonance (MR) imaging sequence is comparable with a clinically established two-dimensional (2D) multi-breath-hold sequence. In this retrospective, IRB-approved study, 40 consecutive patients (18 male; mean age 50±17years) with Fabry disease (n=18) and HCM (n=22) underwent MR imaging at 1.5T. Spatial resolution was the same for 3D and 2D images (field-of-view, 350×350mm(2); in-plane-resolution, 1.2×1.2mm(2); section-thickness, 8mm). Datasets were analyzed for subjective image quality; myocardial and fibrotic mass, and total fibrotic tissue percentage were quantified. There was no significant difference in subjective image quality between 3D and 2D acquisitions (P=0.1 and P=0.3) for either disease. In patients with Fabry disease there were no significant differences between 3D and 2D acquisitions for myocardial mass (P=0.55), fibrous tissue mass (P=0.89), and total fibrous percentage (P=0.67), with good agreement between acquisitions according to Bland-Altman analyses. In patients with HCM there were also no significant differences between acquisitions for myocardial mass (P=0.48), fibrous tissue mass (P=0.56), and total fibrous percentage (P=0.67), with good agreement according to Bland-Altman analyses. Acquisition time was significantly shorter for 3D (25±5s) as compared to the 2D sequence (349±62s, P<0.001). In patients with Fabry disease and HCM, 3D LGE imaging provides equivalent diagnostic information in regard to quantification of myocardial fibrosis as compared with a standard 2D sequence, but at superior acquisition speed. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  15. Successful salvage therapy with Daptomycin for osteomyelitis caused by methicillin-resistant Staphylococcus aureus in a renal transplant recipient with Fabry-Anderson disease

    Directory of Open Access Journals (Sweden)

    Polilli Ennio

    2012-03-01

    Full Text Available Abstract Daptomycin is licensed in adults for the management of Staphylococcus aureus methicillin-resistant infections, including bone and skin complicated infections. We describe for the first time its use in a renal transplant recipient for Fabry-Anderson Disease with right heel osteomyelitis. The patient was unresponsive to first-line Teicoplanin and second-line Tigecycline, whereas he was successfully treated with third-line Daptomycin monotherapy at 4 mg/Kg/qd for 4 weeks. Local debridement was performed in advance of each line of treatment.

  16. Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).

    Science.gov (United States)

    Ebrahim, Hatim Y; Baker, Robert J; Mehta, Atul B; Hughes, Derralynn A

    2012-03-01

    The functional significance of missense mutations in genes encoding acid glycosidases of lysosomal storage disorders (LSDs) is not always clear. Here we describe a method of investigating functional properties of variant enzymes in vitro using a human embryonic kidney epithelial cell line. Site-directed mutagenesis was performed on the parental plasmids containing cDNA encoding for alpha-galactosidase A (α-Gal A) and acid maltase (α-Glu) to prepare plasmids encoding relevant point mutations. Mutant plasmids were transfected into HEK 293 T cells, and transient over-expression of variant enzymes was measured after 3 days. We have illustrated the method by examining enzymatic activities of four unknown α-Gal A and one α-Glu variants identified in our patients with Anderson-Fabry disease and Pompe diseases respectively. Comparison with control variants known to be either pathogenic or non-pathogenic together with over-expression of wild-type enzyme allowed determination of the pathogenicity of the mutation. One leader sequence novel variant of α-Gal A (p.A15T) was shown not to significantly reduce enzyme activity, whereas three other novel α-Gal A variants (p.D93Y, p.L372P and p.T410I) were shown to be pathogenic as they resulted in significant reduction of enzyme activity. A novel α-Glu variant (p.L72R) was shown to be pathogenic as this significantly reduced enzyme activity. Certain acid glycosidase variants that have been described in association with late-onset LSDs and which are known to have variable residual plasma and leukocyte enzyme activity in patients appear to show intermediate to low enzyme activity (p.N215S and p.Q279E α-Gal A respectively) in the over-expression system.

  17. Accurate quantification of sphingosine-1-phosphate in normal and Fabry disease plasma, cells and tissues by LC-MS/MS with (13)C-encoded natural S1P as internal standard.

    Science.gov (United States)

    Mirzaian, Mina; Wisse, Patrick; Ferraz, Maria J; Marques, André R A; Gabriel, Tanit L; van Roomen, Cindy P A A; Ottenhoff, Roelof; van Eijk, Marco; Codée, Jeroen D C; van der Marel, Gijsbert A; Overkleeft, Herman S; Aerts, Johannes M

    2016-08-01

    We developed a mass spectrometric procedure to quantify sphingosine-1-phosphate (S1P) in biological materials. The use of newly synthesized (13)C5 C18-S1P and commercial C17-S1P as internal standards rendered very similar results with respect to linearity, limit of detection and limit of quantitation. Caution is warranted with determination of plasma S1P levels. Earlier it was reported that S1P is elevated in plasma of Fabry disease patients. We investigated this with the improved quantification. No clear conclusion could be drawn for patient plasma samples given the lack of uniformity of blood collection and plasma preparation. To still obtain insight, plasma and tissues were identically collected from α-galactosidase A deficient Fabry mice and matched control animals. No significant difference was observed in plasma S1P levels. A significant 2.3 fold increase was observed in kidney of Fabry mice, but not in liver and heart. Comparative analysis of S1P in cultured fibroblasts from normal subjects and classically affected Fabry disease males revealed no significant difference. In conclusion, accurate quantification of S1P in biological materials is feasible by mass spectrometry using the internal standards (13)C5 C18-S1P or C17-S1P. Significant local increases of S1P in the kidney might occur in Fabry disease as suggested by the mouse model. Copyright © 2016 Elsevier B.V. All rights reserved.

  18. Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity.

    Science.gov (United States)

    Yoshimitsu, Makoto; Higuchi, Koji; Miyata, Masaaki; Devine, Sean; Mattman, Andre; Sirrs, Sandra; Medin, Jeffrey A; Tei, Chuwa; Takenaka, Toshihiro

    2011-05-01

    Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A (GLA) gene, and the disease is a relatively prevalent cause of left ventricular hypertrophy followed by conduction abnormalities and arrhythmias. Mutation analysis of the GLA gene is a valuable tool for accurate diagnosis of affected families. In this study, we carried out molecular studies of 10 unrelated families diagnosed with Fabry disease. Genetic analysis of the GLA gene using conventional genomic sequencing was performed in 9 hemizygous males and 6 heterozygous females. In patients with no mutations in coding DNA sequence, multiplex ligation-dependent probe amplification (MLPA) and/or cDNA sequencing were performed. We identified a novel exon 2 deletion (IVS1_IVS2) in a heterozygous female by MLPA, which was undetectable by conventional sequencing methods. In addition, the g.9331G>A mutation that has previously been found only in patients with cardiac Fabry disease was found in 3 unrelated, newly-diagnosed, cardiac Fabry patients by sequencing GLA genomic DNA and cDNA. Two other novel mutations, g.8319A>G and 832delA were also found in addition to 4 previously reported mutations (R112C, C142Y, M296I, and G373D) in 6 other families. We could identify GLA gene mutations in all hemizygotes and heterozygotes from 10 families with Fabry disease. Mutations in 4 out of 10 families could not be identified by classical genomic analysis, which focuses on exons and the flanking region. Instead, these data suggest that MLPA analysis and cDNA sequence should be considered in genetic testing surveys of patients with Fabry disease. Copyright © 2011 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

  19. Relationship between left ventricular diastolic function and myocardial sympathetic denervation measured by {sup 123}I-meta-iodobenzylguanidine imaging in Anderson-Fabry disease

    Energy Technology Data Exchange (ETDEWEB)

    Spinelli, Letizia; Giudice, Caterina Anna; Imbriaco, Massimo; Trimarco, Bruno; Cuocolo, Alberto [University Federico II, Department of Advanced Biomedical Sciences, Naples (Italy); Pellegrino, Teresa [Institute of Biostructure and Bioimaging, National Council of Research, Naples (Italy); Pisani, Antonio; Riccio, Eleonora [University Federico II, Department of Public Health, Naples (Italy); Salvatore, Marco [IRCCS SDN, Naples (Italy)

    2016-04-15

    Whether cardiac sympathetic nervous function abnormalities may be present in patients with Anderson-Fabry disease (AFD) remains unexplored. We investigated the relationship between left ventricular (LV) function and cardiac sympathetic nervous function in patients with AFD. Twenty-five patients (12 men, mean age 43 ± 13 years) with genetically proved AFD and preserved LV ejection fraction and ten age and gender-matched control subjects underwent speckle tracking echocardiography and {sup 123}I-meta-iodobenzylguanidine (MIBG) imaging from which early and late heart to mediastinum (H/M) ratios and myocardial washout rate values were calculated. In AFD patients, a significant correlation between late H/M ratio and LV mass index (r = -61, p = 0.001), left atrial volume (r = -0.72, p < 0.001), systolic pulmonary artery pressure (r = -0.75, p < 0.001), and early diastolic untwisting rate (r = -0.66, p < 0.001) was found. Ten AFD patients exhibited a late H/M ratio below two fold standard deviation of control subjects (≤1.75). Patients showing late H/M ratio ≤ 1.75 had significantly higher LV mass index, relative wall thickness, left atrial volume and systolic pulmonary artery pressure, lower systolic longitudinal strain and an early diastolic untwisting rate compared to patients with late H/M ratio > 1.75. At multivariable linear regression analysis, early diastolic untwisting rate was the only independent predictor of late H/M ratio ≤ 1.75 (odds ratio 1.15, 95 % confidence interval 1.07-1.31, p < 0.05). The present findings provide the first demonstration of a cardiac sympathetic derangement in AFD patients with preserved LV ejection fraction, which is mostly related to LV diastolic dysfunction. (orig.)

  20. Fabry's disease: biochemical and histochemical studies on hair roots for carrier detection.

    Science.gov (United States)

    Vermorken, A J; Weterings, P J; Spierenburg, G T; vanBennekom, C A; Wirtz, P; deBruyn, C H; Oei, T L

    1978-02-01

    A method of assay alpha-galactosidase and acid phosphatase activities in single hair roots is described. Enzyme histochemical studies show that the distribution of acid phosphatase in the human hair root matches that of alpha-galactosidase. Histochemically, the main activity is located in the upper part of the sheath near the orifice of the duct of the sebaceous gland. This is confirmed by enzyme assays on different parts of the hair root after dissection. The variation in the values found in individual hair roots is improved by relating alpha-galactosidase to acid phosphatase activities. Storage experiments indicate a remarkable stability of both alpha-galactosidase and acid phosphatase in human hair roots.

  1. A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients

    Science.gov (United States)

    Alharbi, Fahad J.; Geberhiwot, Tarekegn; Hughes, Derralynn A.; Ward, Douglas G.

    2016-04-01

    Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in the accumulation of glycosphingolipids in various organs. Globotriaosylceramide (Gb3) and its isoforms and analogues have been identified and quantified as biomarkers of disease severity and treatment efficacy. The current study aimed to establish rapid methods for urinary Gb3 extraction and quantitation. Urine samples from 15 Fabry patients and 21 healthy control subjects were processed to extract Gb3 by mixing equal volumes of urine, methanol containing an internal standard, and chloroform followed by sonication and centrifugation. Thereafter, the lower phase was analyzed by MALDI-TOF MS and the relative peak areas of the internal standard and four major species of Gb3 determined. The results showed high reproducibility with intra- and inter-assay coefficients variation of 9.9% and 13.7%, respectively. The limit of detection was 0.15 ng/μL and the limit of quantitation was 0.30 ng/μL. Total urinary Gb3 levels in both genders of classic Fabry patients were significantly higher than in healthy controls (p < 0.0001). Gb3 levels in Fabry males were higher than in Fabry females (p = 0.08). We have established a novel assay for urinary total Gb3 that takes less than 15 min from start to finish.

  2. [Clinical and histological findings in Fabry nephropathy].

    Science.gov (United States)

    Pieruzzi, Federico; Salerno, Fabio; Di Giacomo, Antonella; Torti, Giacomo; Ferrario, Franco; Pagni, Fabio; Stella, Andrea

    2013-01-01

    Fabry disease is a complex pathology, requiring a multidisciplinar approach both in the diagnostic workout and in the management of therapy. Clinical criteria able to predict its morbidity have not yet been found. The wide variability of clinical signs and symptoms requires an individual approach based on the single patient, in order to achieve an optimal management. Enzyme replacement therapy (ERT) has been introduced in the clinical setting for over ten years, but its ability to change the course of the disease has not yet been clearly proved. Recently the hypothesis that ERT may be ineffective in patients with severe organ involvement has emerged. The clinical course of Fabry disease is usually slower in eterozygous women than emizygous men, but can be frequently associated to severe organ failure and premature death in both cases. In this review we discuss the histological aspects of Fabry nephropathy in relation to diagnosis, prognosis, therapy and its effectiveness.

  3. A comprehensive Fabry-related pain questionnaire for adult patients.

    Science.gov (United States)

    Üçeyler, Nurcan; Magg, Barbara; Thomas, Phillip; Wiedmann, Silke; Heuschmann, Peter; Sommer, Claudia

    2014-11-01

    Pain may be the earliest symptom in Fabry disease and presents with a distinct phenotype including triggerable pain attacks, evoked pain, pain crises, and chronic pain. Current pain questionnaires do not reflect the special phenotype of Fabry disease-associated pain, which hampers its systematic evaluation as the basis of correct diagnosis and effective treatment. A questionnaire specifically designed to assess Fabry disease-associated pain is thus urgently needed. At the Würzburg Fabry Center for Interdisciplinary Therapy (FAZIT), Germany, we developed and validated the first face-to-face Fabry Pain Questionnaire (FPQ) for adult patients. The initial version of the FPQ was tested in a pilot study with 20 consecutive Fabry disease patients. The performance of the revised FPQ was assessed in a first (n=56) and second (n=20) validation phase in consecutive Fabry disease patients. For this, patients were interviewed at baseline and 2 weeks later. We determined the test-retest reliability and validity of the FPQ in comparison to data obtained with the Neuropathic Pain Symptom Inventory. The FPQ contains 15 questions on the 4 pain phenotypes of Fabry disease (pain attacks, pain crises, evoked pain, chronic pain) in childhood and adulthood, on pain development during life with and without enzyme replacement therapy, and on everyday life impairment due to pain. This first disease-specific questionnaire is a valuable tool for baseline and follow-up assessment of pain in Fabry disease patients and may guide treatment in this distinct pain phenotype. Copyright © 2014 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.

  4. Availability of and access to orphan drugs: an international comparison of pharmaceutical treatments for pulmonary arterial hypertension, Fabry disease, hereditary angioedema and chronic myeloid leukaemia.

    Science.gov (United States)

    Blankart, Carl Rudolf; Stargardt, Tom; Schreyögg, Jonas

    2011-01-01

    Market authorization does not guarantee patient access to any given drug. This is particularly true for costly orphan drugs because access depends primarily on co-payments, reimbursement policies and prices. The objective of this article is to identify differences in the availability of orphan drugs and in patient access to them in 11 pharmaceutical markets: Australia, Canada, England, France, Germany, Hungary, the Netherlands, Poland, Slovakia, Switzerland and the US. Four rare diseases were selected for analysis: pulmonary arterial hypertension (PAH), Fabry disease (FD), hereditary angioedema (HAE) and chronic myeloid leukaemia (CML). Indicators for availability were defined as (i) the indications for which orphan drugs had been authorized in the treatment of these diseases; (ii) the application date; and (iii) the date upon which these drugs received market authorization in each country. Indicators of patient access were defined as (i) the outcomes of technology appraisals; (ii) the extent of coverage provided by healthcare payers; and (iii) the price of the drugs in each country. For PAH we analysed bosentan, iloprost, sildenafil, treprostinil (intravenous and inhaled) as well as sitaxentan and ambrisentan; for FD we analysed agalsidase alfa and agalsidase beta; for HAE we analysed icatibant, ecallantide and two complement C1s inhibitors; for CML we analysed imatinib, dasatinib and nilotinib. Most drugs included in this study had received market authorization in all countries, but the range of indications for which they had been authorized differed by country. The broadest range of indications was found in Australia, and the largest variations in indications were found for PAH drugs. Authorization process speed (the time between application and market authorization) was fastest in the US, with an average of 362 days, followed by the EU (394 days). The highest prices for the included drugs were found in Germany and the US, and the lowest in Canada, Australia and

  5. Small-fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicin

    DEFF Research Database (Denmark)

    Møller, Anette Torvin; Feldt-Rasmussen, Ulla; Rasmussen, Åse K.

    2006-01-01

    affected. Recently, attention has been drawn to female patients whether they also show signs of nerve involvement. An early sign of the disease is painful small-fibre neuropathy. The aim of this study was to evaluate a small-fibre dysfunction in female Fabry patients by using capsaicin applied topically......Fabry disease is a rare X-linked lysosomal storage disorder. The mutations result in a deficiency of the lysosomal enzyme α-galactosidase A causing accumulation of glycosphingolipids in the vascular endothelial cells and many other tissues. Given the X-linked inheritance, male patients are severely....... The response to capsaicin was evaluated by laser Doppler imaging. We found that the female Fabry patients had a significantly smaller increase in blood flow (p = 0.0003) after capsaicin application. The area of static mechanical allodynia and dynamic mechanical hyperalgesia was also significantly smaller (p...

  6. A 15-Year Perspective of the Fabry Outcome Survey

    Directory of Open Access Journals (Sweden)

    Roberto Giugliani MD, PhD

    2016-09-01

    Full Text Available The Fabry Outcome Survey (FOS is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agalα. Established in 2001, FOS provides long-term data on agalα safety/efficacy and collects data on the natural history of Fabry disease, with the aim of improving clinical management. The FOS publications have helped establish prognostic and severity scores, defined the incidence of specific disease variants and implications for clinical management, described clinical manifestations in special populations, confirmed the high prevalence of cardiac morbidity, and demonstrated correlations between ocular changes and Fabry disease severity. These FOS data represent a rich resource with utility not only for description of natural history/therapeutic effects but also for exploratory hypothesis testing and generation of tools for diagnosis/management, with the potential to improve future patient outcomes.

  7. The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.

    Science.gov (United States)

    Tai, Chang-Long; Liu, Mei-Ying; Yu, Hsiao-Chi; Chiang, Chiang-Chuan; Chiang, Hung; Suen, Jeng-Hung; Kao, Shu-Min; Huang, Yu-Hsiu; Wu, Tina Jui-Ting; Yang, Chia-Feng; Tsai, Fang-Chih; Lin, Ching-Yuang; Chang, Jan-Gowth; Chen, Hong-Duo; Niu, Dau-Ming

    2012-02-18

    As an X-linked genetic disorder, Fabry disease was first thought to affect males only, and females were generally considered to be asymptomatic carriers. However, recent research suggests that female carriers of Fabry disease may still develop vital organ damage causing severe morbidity and mortality. In the previous newborn screening, from 299,007 newborns, we identified a total of 20 different Fabry mutations and 121 newborns with Fabry mutations. However, we found that most female carriers are not detected by enzyme assays. A streamlined method for high resolution melting (HRM) analysis was designed to screen for GLA gene mutations using a same PCR and melting program. Primer sets were designed to cover the 7 exons and the Chinese common intronic mutation, IVS4+919G>A of GLA gene. The HRM analysis was successful in identifying heterozygous and hemizygous patients with the 20 surveyed mutations. We were also successful in using this method to test dry blood spots of newborns afflicted with Fabry mutations without having to determine DNA concentration before PCR amplification. The results of this study show that HRM could be a reliable and sensitive method for use in the rapid screening of females for GLA mutations. Copyright © 2011 Elsevier B.V. All rights reserved.

  8. Clinical and genetic investigation of a Japanese family with cardiac fabry disease. Identification of a novel α-galactosidase A missense mutation (G195V).

    Science.gov (United States)

    Nakagawa, Naoki; Maruyama, Hiroki; Ishihara, Takayuki; Seino, Utako; Kawabe, Jun-ichi; Takahashi, Fumihiko; Kobayashi, Motoi; Yamauchi, Atsushi; Sasaki, Yukie; Sakamoto, Naka; Ota, Hisanobu; Tanabe, Yasuko; Takeuchi, Toshiharu; Takenaka, Toshihiro; Kikuchi, Kenjiro; Hasebe, Naoyuki

    2011-01-01

    Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A gene (GLA), and the disease is a relatively prevalent cause of left ventricular hypertrophy mimicking idiopathic hypertrophic cardiomyopathy. We assessed clinically 5 patients of a three-generation family and also searched for GLA mutations in 10 family members. The proband had left ventricular hypertrophy with localized thinning in the basal posterior wall and late gadolinium enhancement (LGE) in the near-circumferential wall in cardiovascular magnetic resonance images and her sister had vasospastic angina pectoris without organic stenosis of the coronary arteries. LGE notably appeared in parallel with decreased α-galactosidase A activity and increased NT-pro BNP in our patients. We detected a new GLA missense mutation (G195V) in exon 4, resulting in a glycine-to-valine substitution. Of the 10 family members, 5 family members each were positive and negative for this mutation. These new data extend our clinical and molecular knowledge of GLA gene mutations and confirm that a novel missense mutation in the GLA gene is important not only for a precise diagnosis of heterozygous status, but also for confirming relatives who are negative for this mutation.

  9. Apocrine hidradenocarcinoma showing Paget's disease and mucinous metaplasia.

    Science.gov (United States)

    Wahl, Carter E; Todd, Douglas H; Binder, Scott W; Cassarino, David S

    2009-05-01

    A 54-year-old man presented with a solitary, erythematous, rapidly growing 1-cm nodule on his scalp that had arisen over the previous 3 months. He had no history of skin cancer. An excisional biopsy of the lesion showed a fairly well-circumscribed but focally invasive tumor consisting of areas of typical-appearing clear cell hidradenoma as well as areas with mucinous goblet-type cells and cells with eosinophilic cytoplasm and decapitation-type secretion. There was marked cellular atypia, numerous atypical mitotic figures and focal necrosis. The tumor cells focally involved the overlying epidermis (Paget's disease). Large areas of mucin were identified throughout the lesion. The tumor cells stained with markers for cytokeratin 7 and focally for EMA and CEA, confirming ductal differentiation. The goblet cells and mucinous areas stained with mucicarmine and PASD. The patient was diagnosed with hidradenocarcinoma with mucinous differentiation. Associated Paget's disease has only rarely been reported, and mucinous metaplasia is a previously unreported feature in hidradenocarcinoma.

  10. AB018. Revisited later-onset cardiac type Fabry disease—cardiac damages progressed in silence—experiences from an extremely high prevalent area, Taiwan

    OpenAIRE

    Niu, Dau-Ming; Hsu, Ting-Rong; Yang, Chia-Feng; Chu, Tzu-Hung; Chiang, Chuan-Chi; Ho, Hui-Chen

    2015-01-01

    All of the current newborn screening studies of Fabry disease revealed that the incidences of later-onset Fabry disease in their studied populations were much higher than the previous expectancy. It reveals that later-onset Fabry disease could be an important hidden health issue in some populations or even a lot of populations. However, the natural course of later-onset Fabry disease is still largely unknown. A total of 792,247 newborns have been screened for Fabry disease by our team in Taiw...

  11. Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease

    Directory of Open Access Journals (Sweden)

    Goláň L

    2015-07-01

    Full Text Available Lubor Goláň,1 Ozlem Goker-Alpan,2 Myrl Holida,3 Ikka Kantola,4 Mariusz Klopotowski,5 Johanna Kuusisto,6 Aleš Linhart,1 Jacek Musial,7 Kathleen Nicholls,8 Derlis Gonzalez-Rodriguez,9 Reena Sharma,10 Bojan Vujkovac,11 Peter Chang,12 Anna Wijatyk12 1First Faculty of Medicine, Department of Cardiovascular Medicine, Charles University, Prague, Czech Republic; 2Lysosomal Research and Treatment Unit, Fairfax, VA, USA; 3Stead Family Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA, USA; 4Division of Medicine, Turku University Hospital, Turku, Finland; 5Institute of Cardiology, Warsaw, Poland; 6Department of Medicine, Center for Medicine and Clinical Research, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland; 7Department of Internal Medicine, Jagiellonian University Medical College, Krakow, Poland; 8Department of Nephrology, Royal Melbourne Hospital and the University of Melbourne, VIC, Australia; 9Instituto Privado de Hematologia E Investigacion Clinica (IPHIC, Asuncion, Paraguay; 10Salford Royal NHS Foundation Trust, Salford, UK; 11General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia; 12Shire, Lexington, MA, USA Purpose: Efficacy and safety of agalsidase alfa at 0.2 mg/kg weekly were compared with 0.2 mg/kg every other week (EOW. Exploratory analyses were performed for 0.4 mg/kg weekly.Patients and methods: This was a 53-week, Phase III/IV, multicenter, open-label study (NCT01124643 in treatment-naïve adults (≥18 years with Fabry disease. Inclusion criteria were left ventricular hypertrophy at baseline, defined as left ventricular mass indexed to height >50 g/m2.7 for males and >47 g/m2.7 for females. Primary endpoint was reduction of left ventricular mass indexed to height as assessed by echocardiography. Secondary endpoints included cardiac (peak oxygen consumption, 6-minute walk test, Minnesota Living with Heart Failure Questionnaire, New

  12. Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.

    Science.gov (United States)

    Doheny, Dana; Srinivasan, Ram; Pagant, Silvere; Chen, Brenden; Yasuda, Makiko; Desnick, Robert J

    2018-04-01

    Fabry Disease (FD), an X linked lysosomal storage disease due to pathogenic α-galactosidase A ( GLA ) mutations, results in two major subtypes, the early-onset Type 1 'Classic' and the Type 2 'Later-Onset' phenotypes. To identify previously unrecognised patients, investigators screened cardiac, renal and stroke clinics by enzyme assays. However, some screening studies did not perform confirmatory GLA mutation analyses, and many included recently recognised 'benign/likely-benign' variants, thereby inflating prevalence estimates. Online databases were searched for all FD screening studies in high-risk clinics (1995-2017). Studies reporting GLA mutations were re-analysed for pathogenic mutations, sex and phenotype. Phenotype-specific and sex-specific prevalence rates were determined. Of 67 studies, 63 that screened 51363patients (33943M and 17420F) and provided GLA mutations were reanalysed for disease-causing mutations. Of reported GLA mutations, benign variants occurred in 47.9% of males and 74.1% of females. The following were the revised prevalence estimates: among 36820 (23954M and 12866F) haemodialysis screenees, 0.21% males and 0.15% females; among 3074 (2031M and 1043F) renal transplant screenees, 0.25% males and no females; among 5491 (4054M and 1437F) cardiac screenees, 0.94% males and 0.90% females; and among 5978 (3904M and 2074F) stroke screenees, 0.13% males and 0.14% females. Among male and female screenees with pathogenic mutations, the type 1 Classic phenotype was predominant (~60%), except more male cardiac patients (75%) had type 2 Later-Onset phenotype. Compared with previous findings, reanalysis of 63 studies increased the screenee numbers (~3.4-fold), eliminated 20 benign/likely benign variants, and provided more accurate sex-specific and phenotype-specific prevalence estimates, ranging from ~0.13% of stroke to ~0.9% of cardiac male or female screenees. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article

  13. Extrinsic Fabry-Perot ultrasonic detector

    Science.gov (United States)

    Kidwell, J. J.; Berthold, John W., III

    1996-10-01

    We characterized the performance of a commercial fiber optic extrinsic Fabry-Perot interferometer for use as an ultrasonic sensor, and compared the performance with a standard lead zirconate titanate (PZT) detector. The interferometer was unstabilized. The results showed that the fiber sensor was about 12 times less sensitive than the PZT detector. Ultrasonic frequency response near 100 kHz was demonstrated. We describe the design of the fiber sensor, the details of the tests performed, and potential applications.

  14. The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer

    DEFF Research Database (Denmark)

    Palhais, Bruno; Dembic, Maja; Sabaratnam, Rugivan

    2016-01-01

    Fabry disease is an X-linked recessive inborn disorder of the glycosphingolipid metabolism, caused by total or partial deficiency of the lysosomal α-galactosidase A enzyme due to mutations in the GLA gene. The prevalent c.639+919 G>A mutation in GLA leads to pathogenic insertion of a 57bp pseudoe...... oligonucleotide (SSO) mediated blocking of the pseudoexon 3'ss and 5'ss effectively restores normal GLA splicing. This indicates that SSO based splicing correction may be a therapeutic alternative in the treatment of Fabry disease....

  15. Nicotiana benthamiana α-galactosidase A1.1 can functionally complement human α-galactosidase A deficiency associated with Fabry disease.

    Science.gov (United States)

    Kytidou, Kassiani; Beekwilder, Jules; Artola, Marta; van Meel, Eline; Wilbers, Ruud H P; Moolenaar, Geri F; Goosen, Nora; Ferraz, Maria J; Katzy, Rebecca; Voskamp, Patrick; Florea, Bogdan I; Hokke, Cornelis H; Overkleeft, Herman S; Schots, Arjen; Bosch, Dirk; Pannu, Navraj; Aerts, Johannes M F G

    2018-04-19

    α-Galactosidases (EC 3.2.1.22) are retaining glycosidases that cleave terminal α-linked galactose residues from glycoconjugate substrates. α-Galactosidases take part in the turnover of cell wall-associated galactomannans in plants and in the lysosomal degradation of glycosphingolipids in animals. Deficiency of human α-galactosidase A (α-Gal A) causes Fabry disease (FD), a heritable, X-linked lysosomal storage disorder, characterized by accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3). Current management of FD involves enzyme-replacement therapy (ERT). An activity-based probe (ABP) covalently labeling the catalytic nucleophile of α-Gal A has been previously designed to study α-galactosidases for use in FD therapy. Here, we report that this ABP labels proteins in Nicotiana benthamiana leaf extracts, enabling the identification and biochemical characterization of an N. benthamiana α-galactosidase we name here A1.1 (gene accession GJZM-1660). The transiently overexpressed and purified enzyme was a monomer lacking N-glycans and was active toward 4-methylumbelliferyl-α-D-galactopyranoside substrate (Km = 0.17 mM) over a broad pH range. A1.1 structural analysis by X-ray crystallography revealed marked similarities with human α-Gal A, even including A1.1's ability to hydrolyze Gb3 and lysoGb3, which are not endogenous in plants. Of note, A1.1 uptake into FD fibroblasts reduced the elevated lysoGb3 levels in these cells, consistent with A1.1 delivery to lysosomes as revealed by confocal microscopy. The ease of production and the features of A1.1, such as stability over a broad pH range, combined with its capacity to degrade glycosphingolipid substrates, warrant further examination of its value as a potential therapeutic agent for ERT-based FD management. Published under license by The American Society for Biochemistry and Molecular Biology, Inc.

  16. Presymptomatic diagnosis of Fabry's disease

    DEFF Research Database (Denmark)

    Hasselbalch, Rasmus Bo; Lav Madsen, Per; Bundgaard, Henning

    2016-01-01

    differential diagnoses in patients presenting with cardiac hypertrophy. In boys, onset has been reported in early childhood with complaints initially comprising neuropathic pain, reduced sweat production, and gastrointestinal symptoms. Later the cardiac, renal, and central nervous systems may become affected...... inheritable cardiomyopathies. The specific - precise - diagnosis may be crucial for the patient as well as the relatives....

  17. A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease.

    Science.gov (United States)

    Hughes, D A; Deegan, P B; Milligan, A; Wright, N; Butler, L H; Jacobs, A; Mehta, A B

    2013-07-01

    Anecdotal reports suggest that the currently approved dosing interval of agalsidase alfa (0.2 mg/kg/2 weeks) for Fabry disease treatment is too long. This randomised, double-blind, placebo-controlled, crossover study investigated three altered dosing intervals. 18 Fabry patients received three agalsidase alfa dosing schedules, each for four weeks (A: 0.2 mg/kg∗2 weeks, B: 0.1 mg/kg/week, C: 0.2 mg/kg/week). Health state, pain levels, sweat volume and latency and plasma and urinary globotriaosylceramide levels were recorded throughout the study. No significant differences were found among the schedules for the primary efficacy outcome of self-assessed health state, or for pain scores. A trend toward increased sweat volume on QSART testing, and reduced urine globotriaosylceramide concentration were seen with treatment schedule C. Agalsidase alfa was safe and well tolerated with all schedules. In conclusion, the primary analyses did not find weekly infusions of agalsidase alfa to be statistically better than the approved dosing schedule however the data indicates that further studies with more patients over a longer period are required to more accurately determine the optimum dose and schedule. Copyright © 2013 Elsevier Inc. All rights reserved.

  18. Fabry-Perot Diaphragm Fiber Optic Sensor (DFOS for Acoustic Detection

    Directory of Open Access Journals (Sweden)

    Yan SUN

    2007-10-01

    Full Text Available A diaphragm fiber optic sensor (DFOS solely based on Fabry-Perot multiple beam interference has been designed and fabricated with micro-electric mechanical system (MEMS technology. The silicon diaphragm with an embossed center was designed with an interference gap width kept accurately. The DFOS was verified to be a truly and purely Fabry-Perot device via a critical test. Parallel testing with a Piezoelectric (PZT sensor showed that the DFOS had high sensitivity. The Fabry-Perot DFOS also demonstrated excellent performance in on-line monitoring of Partial Discharge (PD in power transformers.

  19. Levitated optomechanics with a fiber Fabry-Perot interferometer

    Science.gov (United States)

    Pontin, A.; Mourounas, L. S.; Geraci, A. A.; Barker, P. F.

    2018-02-01

    In recent years, quantum phenomena have been experimentally demonstrated on variety of optomechanical systems ranging from micro-oscillators to photonic crystals. Since single photon couplings are quite small, most experimental approaches rely on the realization of high finesse Fabry-Perot cavities in order to enhance the effective coupling. Here we show that by exploiting a, long path, low finesse fiber Fabry-Perot interferometer ground state cooling can be achieved. We model a 100 m long cavity with a finesse of 10 and analyze the impact of additional noise sources arising from the fiber. As a mechanical oscillator we consider a levitated microdisk but the same approach could be applied to other optomechanical systems.

  20. Fungal diversity in oil palm leaves showing symptoms of Fatal Yellowing disease.

    Science.gov (United States)

    de Assis Costa, Ohana Yonara; Tupinambá, Daiva Domenech; Bergmann, Jessica Carvalho; Barreto, Cristine Chaves; Quirino, Betania Ferraz

    2018-01-01

    Oil palm (Elaeis guineensis Jacq.) is an excellent source of vegetable oil for biodiesel production; however, there are still some limitations for its cultivation in Brazil such as Fatal Yellowing (FY) disease. FY has been studied for many years, but its causal agent has never been determined. In Colombia and nearby countries, it was reported that the causal agent of Fatal Yellowing (Pudrición del Cogollo) is the oomycete Phytophthora palmivora, however, several authors claim that Fatal Yellowing and Pudrición del Cogollo (PC) are different diseases. The major aims of this work were to test, using molecular biology tools, Brazilian oil palm trees for the co-occurrence of the oomycete Phytophthora and FY symptoms, and to characterize the fungal diversity in FY diseased and healthy leaves by next generation sequencing. Investigation with specific primers for the genus Phytophthora showed amplification in only one of the samples. Analysis of the fungal ITS region demonstrated that, at the genus level, different groups predominated in all symptomatic samples, while Pyrenochaetopsis and unclassified fungi predominated in all asymptomatic samples. Our results show that fungal communities were not the same between samples at the same stage of the disease or among all the symptomatic samples. This is the first study that describes the evolution of the microbial community in the course of plant disease and also the first work to use high throughput next generation sequencing to evaluate the fungal community associated with leaves of oil palm trees with and without symptoms of FY.

  1. Airway wall thickening and emphysema show independent familial aggregation in chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Patel, Bipen D; Coxson, Harvey O; Pillai, Sreekumar G

    2008-01-01

    RATIONALE: It is unclear whether airway wall thickening and emphysema make independent contributions to airflow limitation in chronic obstructive pulmonary disease (COPD) and whether these phenotypes cluster within families. OBJECTIVES: To determine whether airway wall thickening and emphysema (1...... to airflow obstruction in COPD. These phenotypes show independent aggregation within families of individuals with COPD, suggesting that different genetic factors influence these disease processes....... the severity of airway wall thickening and emphysema. MEASUREMENTS AND MAIN RESULTS: A total of 3,096 individuals were recruited to the study, of whom 1,159 (519 probands and 640 siblings) had technically adequate high-resolution computed tomography scans without significant non-COPD-related thoracic disease...

  2. Erdheim-Chester disease in a child with MR imaging showing regression of marrow changes

    International Nuclear Information System (INIS)

    Joo, Chan Uhng; Go, Yang Sim; Kim, In Hwan; Kim, Chul Seong; Lee, Sang Yong

    2005-01-01

    Erdheim-Chester disease is a disseminated xanthogranulomatous infiltrative disease of unknown origin that generally presents in adulthood. A review of the English-language literature demonstrated that pediatric cases were extremely rare, and to our knowledge, only two cases, a 7- and 14-year-old, have been published. We report a case of Erdheim-Chester disease in a 10-year-old girl evaluated with MR imaging. Radiographs revealed typical bilateral, symmetric osteosclerosis of the metaphyseal regions of long bones of the upper and lower extremities. A histologic examination demonstrated foamy histiocytes in bone marrow smears. Bilateral symmetric low signal intensities of both proximal tibiae and distal femurs were demonstrated on T1-weighted MR images. After oral steroid therapy for 8 months, follow-up MR imaging showed remarkable restoration of normal high signal intensity in both the tibial and femoral metaphyses. To our knowledge, this may be the first case of Erdheim-Chester disease that showed normal restoration of the abnormal signal intensities in the metaphyses of long bones after steroid therapy. (orig.)

  3. Fungal diversity in oil palm leaves showing symptoms of Fatal Yellowing disease.

    Directory of Open Access Journals (Sweden)

    Ohana Yonara de Assis Costa

    Full Text Available Oil palm (Elaeis guineensis Jacq. is an excellent source of vegetable oil for biodiesel production; however, there are still some limitations for its cultivation in Brazil such as Fatal Yellowing (FY disease. FY has been studied for many years, but its causal agent has never been determined. In Colombia and nearby countries, it was reported that the causal agent of Fatal Yellowing (Pudrición del Cogollo is the oomycete Phytophthora palmivora, however, several authors claim that Fatal Yellowing and Pudrición del Cogollo (PC are different diseases. The major aims of this work were to test, using molecular biology tools, Brazilian oil palm trees for the co-occurrence of the oomycete Phytophthora and FY symptoms, and to characterize the fungal diversity in FY diseased and healthy leaves by next generation sequencing. Investigation with specific primers for the genus Phytophthora showed amplification in only one of the samples. Analysis of the fungal ITS region demonstrated that, at the genus level, different groups predominated in all symptomatic samples, while Pyrenochaetopsis and unclassified fungi predominated in all asymptomatic samples. Our results show that fungal communities were not the same between samples at the same stage of the disease or among all the symptomatic samples. This is the first study that describes the evolution of the microbial community in the course of plant disease and also the first work to use high throughput next generation sequencing to evaluate the fungal community associated with leaves of oil palm trees with and without symptoms of FY.

  4. Reversible Lansoprazole-Induced Interstitial Lung Disease Showing Improvement after Drug Cessation

    International Nuclear Information System (INIS)

    Hwang, Kyu Won; Woo, Ok Hee; Yong, Hwan Seok; Shin, Bong Kyung; Shim, Jae Jeong; Kang, Eun Young

    2008-01-01

    Lansoprazole is an acid proton-pump inhibitor that is similar to omeprazole. It is used to treat duodenal or gastric ulcers, H. pylori infection, gastroesophageal reflux disease (GERD) or Zollinger-Ellison syndrome. Common adverse effects of lansoprazole are diarrhea, abdominal pain, skin rash and/or itching. Information from U.S. National Library of Medicine warns that this drug can on rare occasion cause cough or cold-like symptoms. The pathophysiological mechanisms of lansoprazole-related pulmonary symptoms are not yet understood. In particular, there are no known reports regarding lansoprazole-induced interstitial lung diseases. We report here a case of interstitial lung disease (ILD) induced by oral administration of lansoprazole, which showed a pattern of nonspecific interstitial pneumonia (NSIP) as detected from a video-assisted thoracoscopic lung biopsy. We believe that this is the first report of a case of pathologically proven lansoprazole-induced ILD for which a surgical lung biopsy was performed. To the best of our knowledge, this is the first description of DI-ILD caused by lansoprazole. The diagnosis was made by considering the radiological, histopathological and clinical findings, including the close temporal relationship between lansoprazole exposure and symptom severity. Other possible causes were excluded due to a lack of a temporal relationship between the symptoms and work history or prednisolone therapy, and no other history of specific allergen exposure. When there is diffuse interstitial lung disease with an unknown etiology, it is important to remember that drugs can be the cause of pulmonary symptoms and it is crucial to take a careful patient history. If there is a recent history of taking lansoprazole in a patient with clinical and radiological findings of diffuse interstitial lung disease, we recommend stopping the medication to see if there is clinical and radiological improvement. That way, one can avoid using invasive procedures to

  5. Reversible Lansoprazole-Induced Interstitial Lung Disease Showing Improvement after Drug Cessation

    Energy Technology Data Exchange (ETDEWEB)

    Hwang, Kyu Won; Woo, Ok Hee; Yong, Hwan Seok; Shin, Bong Kyung; Shim, Jae Jeong; Kang, Eun Young [College of Medicine, Korea University, Guro Hospital, Seoul (Korea, Republic of)

    2008-04-15

    Lansoprazole is an acid proton-pump inhibitor that is similar to omeprazole. It is used to treat duodenal or gastric ulcers, H. pylori infection, gastroesophageal reflux disease (GERD) or Zollinger-Ellison syndrome. Common adverse effects of lansoprazole are diarrhea, abdominal pain, skin rash and/or itching. Information from U.S. National Library of Medicine warns that this drug can on rare occasion cause cough or cold-like symptoms. The pathophysiological mechanisms of lansoprazole-related pulmonary symptoms are not yet understood. In particular, there are no known reports regarding lansoprazole-induced interstitial lung diseases. We report here a case of interstitial lung disease (ILD) induced by oral administration of lansoprazole, which showed a pattern of nonspecific interstitial pneumonia (NSIP) as detected from a video-assisted thoracoscopic lung biopsy. We believe that this is the first report of a case of pathologically proven lansoprazole-induced ILD for which a surgical lung biopsy was performed. To the best of our knowledge, this is the first description of DI-ILD caused by lansoprazole. The diagnosis was made by considering the radiological, histopathological and clinical findings, including the close temporal relationship between lansoprazole exposure and symptom severity. Other possible causes were excluded due to a lack of a temporal relationship between the symptoms and work history or prednisolone therapy, and no other history of specific allergen exposure. When there is diffuse interstitial lung disease with an unknown etiology, it is important to remember that drugs can be the cause of pulmonary symptoms and it is crucial to take a careful patient history. If there is a recent history of taking lansoprazole in a patient with clinical and radiological findings of diffuse interstitial lung disease, we recommend stopping the medication to see if there is clinical and radiological improvement. That way, one can avoid using invasive procedures to

  6. Mutational analysis of the GLA gene in Mexican families with Fabry ...

    Indian Academy of Sciences (India)

    PRONAF CP 32315, Ciudad Juárez, Chihuahua, México. Abstract. Fabry disease (FD) is a lysosomal storage disorder, which develops due to a deficiency in the hydrolytic enzyme, α-galactosidase A (α-Gal A). Alpha-Gal A hydrolyzes glycosphingolipid globotriaosylceramide (Gb3), and an α-Gal A deficiency leads to Gb3 ...

  7. Small GSK-3 Inhibitor Shows Efficacy in a Motor Neuron Disease Murine Model Modulating Autophagy.

    Directory of Open Access Journals (Sweden)

    Estefanía de Munck

    Full Text Available Amyotrophic lateral sclerosis (ALS is a progressive motor neuron degenerative disease that has no effective treatment up to date. Drug discovery tasks have been hampered due to the lack of knowledge in its molecular etiology together with the limited animal models for research. Recently, a motor neuron disease animal model has been developed using β-N-methylamino-L-alanine (L-BMAA, a neurotoxic amino acid related to the appearing of ALS. In the present work, the neuroprotective role of VP2.51, a small heterocyclic GSK-3 inhibitor, is analysed in this novel murine model together with the analysis of autophagy. VP2.51 daily administration for two weeks, starting the first day after L-BMAA treatment, leads to total recovery of neurological symptoms and prevents the activation of autophagic processes in rats. These results show that the L-BMAA murine model can be used to test the efficacy of new drugs. In addition, the results confirm the therapeutic potential of GSK-3 inhibitors, and specially VP2.51, for the disease-modifying future treatment of motor neuron disorders like ALS.

  8. Urine proteome analysis in Dent's disease shows high selective changes potentially involved in chronic renal damage.

    Science.gov (United States)

    Santucci, Laura; Candiano, Giovanni; Anglani, Franca; Bruschi, Maurizio; Tosetto, Enrica; Cremasco, Daniela; Murer, Luisa; D'Ambrosio, Chiara; Scaloni, Andrea; Petretto, Andrea; Caridi, Gianluca; Rossi, Roberta; Bonanni, Alice; Ghiggeri, Gian Marco

    2016-01-01

    Definition of the urinary protein composition would represent a potential tool for diagnosis in many clinical conditions. The use of new proteomic technologies allows detection of genetic and post-trasductional variants that increase sensitivity of the approach but complicates comparison within a heterogeneous patient population. Overall, this limits research of urinary biomarkers. Studying monogenic diseases are useful models to address this issue since genetic variability is reduced among first- and second-degree relatives of the same family. We applied this concept to Dent's disease, a monogenic condition characterised by low-molecular-weight proteinuria that is inherited following an X-linked trait. Results are presented here on a combined proteomic approach (LC-mass spectrometry, Western blot and zymograms for proteases and inhibitors) to characterise urine proteins in a large family (18 members, 6 hemizygous patients, 6 carrier females, and 6 normals) with Dent's diseases due to the 1070G>T mutation of the CLCN5. Gene ontology analysis on more than 1000 proteins showed that several clusters of proteins characterised urine of affected patients compared to carrier females and normal subjects: proteins involved in extracellular matrix remodelling were the major group. Specific analysis on metalloproteases and their inhibitors underscored unexpected mechanisms potentially involved in renal fibrosis. Studying with new-generation techniques for proteomic analysis of the members of a large family with Dent's disease sharing the same molecular defect allowed highly repetitive results that justify conclusions. Identification in urine of proteins actively involved in interstitial matrix remodelling poses the question of active anti-fibrotic drugs in Dent's patients. Copyright © 2015 Elsevier B.V. All rights reserved.

  9. Non-specific Inflammatory Disease Showed Abnormal FDG Uptake in Lower Extremities

    International Nuclear Information System (INIS)

    Chun, Kyung Ah; Kong, Eun Jung; Cho, Ihn Ho; Hong, Young Hoon; Lee, Choong Ki

    2008-01-01

    Including malignancy, various disease can show abnormal uptake in bone marrow. 1,2) We report a case of non-specific inflammatory FDG uptake in bone marrow mimicking malignancy. A 35-year old woman with fever of unknown origin (FUO) underwent 18 F-FDG PET/CT to find out fever focus and unknown malignancy. 18 F-FDG was injected and imaged 1hr after injection with Discovery ST (GE, USA). 18 F-FDG PET/CT whole body image showed abnormal uptake in lower extremities. MRI and biopsy was also done in the sites of abnormal uptake. PET and MRI suspect malignancy, but biopsy result was non-specific inflammatory process. The patient was improved her clinical condition after antibiotics therapy

  10. Microglia show altered morphology and reduced arborization in human brain during aging and Alzheimer's disease.

    Science.gov (United States)

    Davies, Danielle S; Ma, Jolande; Jegathees, Thuvarahan; Goldsbury, Claire

    2017-11-01

    Changes in microglia function are involved in Alzheimer's disease (AD) for which ageing is the major risk factor. We evaluated microglial cell process morphologies and their gray matter coverage (arborized area) during ageing and in the presence and absence of AD pathology in autopsied human neocortex. Microglial cell processes were reduced in length, showed less branching and reduced arborized area with aging (case range 52-98 years). This occurred during normal ageing and without microglia dystrophy or changes in cell density. There was a larger reduction in process length and arborized area in AD compared to aged-matched control microglia. In AD cases, on average, 49%-64% of microglia had discontinuous and/or punctate Iba1 labeled processes instead of continuous Iba1 distribution. Up to 16% of aged-matched control microglia displayed discontinuous or punctate features. There was no change in the density of microglial cell bodies in gray matter during ageing or AD. This demonstrates that human microglia show progressive cell process retraction without cell loss during ageing. Additional changes in microglia occur with AD including Iba1 protein puncta and discontinuity. We suggest that reduced microglial arborized area may be an aging-related correlate of AD in humans. These variations in microglial cells during ageing and in AD could reflect changes in neural-glial interactions which are emerging as key to mechanisms involved in ageing and neurodegenerative disease. © 2016 International Society of Neuropathology.

  11. Fabry-Perot confocal resonator optical associative memory

    Science.gov (United States)

    Burns, Thomas J.; Rogers, Steven K.; Vogel, George A.

    1993-03-01

    A unique optical associative memory architecture is presented that combines the optical processing environment of a Fabry-Perot confocal resonator with the dynamic storage and recall properties of volume holograms. The confocal resonator reduces the size and complexity of previous associative memory architectures by folding a large number of discrete optical components into an integrated, compact optical processing environment. Experimental results demonstrate the system is capable of recalling a complete object from memory when presented with partial information about the object. A Fourier optics model of the system's operation shows it implements a spatially continuous version of a discrete, binary Hopfield neural network associative memory.

  12. Effective length of short Fabry-Perot cavity formed by uniform fiber Bragg gratings.

    Science.gov (United States)

    Barmenkov, Yuri O; Zalvidea, Dobryna; Torres-Peiró, Salvador; Cruz, Jose L; Andrés, Miguel V

    2006-07-10

    In this paper, we describe the properties of Fabry-Perot fiber cavity formed by two fiber Bragg gratings in terms of the grating effective length. We show that the grating effective length is determined by the group delay of the grating, which depends on its diffraction efficiency and physical length. We present a simple analytical formula for calculation of the effective length of the uniform fiber Bragg grating and the frequency separation between consecutive resonances of a Fabry-Perot cavity. Experimental results on the cavity transmission spectra for different values of the gratings' reflectivity support the presented theory.

  13. Risk factors for delusion of theft in patients with Alzheimer's disease showing mild dementia in Japan.

    Science.gov (United States)

    Murayama, N; Iseki, E; Endo, T; Nagashima, K; Yamamoto, R; Ichimiya, Y; Arai, H; Sato, K

    2009-07-01

    The mechanism underlying delusion in Alzheimer's disease patients has not been fully clarified; however, the occurrence of delusion is a critical issue for dementia patients and their caregivers. In Japan, delusion of theft is the most frequent delusion in AD patients. We examined the risk factors for delusion of theft in AD patients showing mild dementia. Fifty-six AD patients were administered HDS-R, MMSE and COGNISTAT, including the 'speech sample', to assess their neuropsychological and social cognitive functions. The age, years of education, presence of cohabiting family members and premorbid personality traits were obtained from family members. About 25.0% of AD patients showed delusion of theft (D-group), and 75% did not (non-D-group). About 33.3% of female patients and 5.9% of male patients were included in the D-group (p theft in AD patients was related to female gender, absence of cohabiting family members, neurotic personality and retained social cognitive function.

  14. Left Ventricular Geometry and Blood Pressure as Predictors of Adverse Progression of Fabry Cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Johannes Krämer

    Full Text Available In spite of several research studies help to describe the heart in Fabry disease (FD, the cardiomyopathy is not entirely understood. In addition, the impact of blood pressure and alterations in geometry have not been systematically evaluated.In 74 FD patients (mean age 36±12 years; 45 females the extent of myocardial fibrosis and its progression were quantified using cardiac magnetic-resonance-imaging with late enhancement technique (LE. Results were compared to standard echocardiography complemented by 2D-speckle-tracking, 3D-sphericity-index (SI and standardized blood pressure measurement. At baseline, no patient received enzyme replacement therapy (ERT. After 51±24 months, a follow-up examination was performed.Systolic blood pressure (SBP was higher in patients with vs. without LE: 123±17 mmHg vs. 115±13 mmHg; P = 0.04. A positive correlation was found between SI and the amount of LE-positive myocardium (r = 0.51; P<0.001 indicating an association of higher SI in more advanced stages of the cardiomyopathy. SI at baseline was positively associated with the increase of LE-positive myocardium during follow-up. The highest SBP (125±19 mmHg and also the highest SI (0.32±0.05 was found in the subgroup with a rapidly increasing LE (ie, ≥0.2% per year; n = 16; P = 0.04. Multivariate logistic regression analysis including SI, SBP, EF, left ventricular volumes, wall thickness and NT-proBNP adjusted for age and sex showed SI as the most powerful parameter to detect rapid progression of LE (AUC = 0.785; P<0.05.LV geometry as assessed by the sphericity index is altered in relation to the stage of the Fabry cardiomyopathy. Although patients with FD are not hypertensive, the SBP has a clear impact on the progression of the cardiomyopathy.

  15. New Study Shows 59 Percent of Americans Will Develop Kidney Disease in Their Lifetime

    Science.gov (United States)

    ... pressure or diabetes – by adding a simple urine albumin test for kidney damage to annual physical examinations. “ ... Grams, a nephrologist and lead author of the paper pointed out that while severe kidney disease and ...

  16. An Archetype Semi-Ring Fabry-Perot (SRFP) Resonator

    Science.gov (United States)

    Taghavi-Larigani, Shervin; VanZyl, Jakob

    2009-01-01

    We introduce and demonstrate the generation of a novel resonator, termed Semi-Ring Fabry-Perot (SRFP), that exhibits unique features, such as, its use of one plane mirror, allowing the SRFP to be easily fabricated as a symmetrical device. In addition to its unique features, it exhibits advantages of ring and Fabry-Perot resonators: 1) compared to a ring resonator that only allows a transmitted intensity, the Semi-Ring Fabry-Perot (SRFP) supports standing waves, allowing both a reflected and transmitted intensity; 2) the reflected light spectrum of the SRFP resonator is much narrower than similar Fabry-Perot, implying higher finesse.

  17. Patients with eating disorders showed no signs of coeliac disease before and after nutritional intervention.

    Science.gov (United States)

    Kaltsa, Maria; Garoufi, Anastasia; Tsitsika, Artemis; Tsirogianni, Alexandra; Papasteriades, Chryssa; Kossiva, Lydia

    2015-07-01

    This study assessed the presence of specific antibodies for coeliac disease in outpatients suffering from eating disorders before and after nutritional intervention. We also evaluated whether those patients should undergo regular screening for coeliac disease. The sample consisted of 154 patients with a mean age of 16.7 years - ranging from one to 19 years of age - suffering from eating disorders. Serology screening for coeliac disease and total immunoglobulin A (IgA) levels was evaluated in the 154 children before the nutritional intervention and in 104 patients after the intervention. The patients consumed an adequate amount of gluten in both phases. Postintervention evaluation revealed that 92 patients (88.5%) achieved a normal body weight, while the remaining 12 (11.5%) became obese. Postprandial abdominal discomfort and pain were resolved. The serology tests were negative in all patients, before and after intervention. None displayed IgA deficiency. To the best of our knowledge, this was the first prospective study where patients underwent a screening serology for coeliac disease before and after nutritional intervention. No indication of the coexistence of eating disorders and coeliac disease was documented, and the patients in our study were unlikely to require regular screening for coeliac disease. ©2015 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  18. Myofibroblasts in interstitial lung diseases show diverse electron microscopic and invasive features.

    Science.gov (United States)

    Karvonen, Henna M; Lehtonen, Siri T; Sormunen, Raija T; Harju, Terttu H; Lappi-Blanco, Elisa; Bloigu, Risto S; Kaarteenaho, Riitta L

    2012-09-01

    The characteristic features of myofibroblasts in various lung disorders are poorly understood. We have evaluated the ultrastructure and invasive capacities of myofibroblasts cultured from small volumes of diagnostic bronchoalveolar lavage (BAL) fluid samples from patients with different types of lung diseases. Cells were cultured from samples of BAL fluid collected from 51 patients that had undergone bronchoscopy and BAL for diagnostic purposes. The cells were visualized by transmission electron microscopy and immunoelectron microscopy to achieve ultrastructural localization of alpha-smooth muscle actin (α-SMA) and fibronectin. The levels of α-SMA protein and mRNA and fibronectin mRNA were measured by western blot and quantitative real-time reverse transcriptase polymerase chain reaction. The invasive capacities of the cells were evaluated. The cultured cells were either fibroblasts or myofibroblasts. The structure of the fibronexus, and the amounts of intracellular actin, extracellular fibronectin and cell junctions of myofibroblasts varied in different diseases. In electron and immunoelectron microscopy, cells cultured from interstitial lung diseases (ILDs) expressed more actin filaments and α-SMA than normal lung. The invasive capacity of the cells obtained from patients with idiopathic pulmonary fibrosis was higher than that from patients with other type of ILDs. Cells expressing more actin filaments had a higher invasion capacity. It is concluded that electron and immunoelectron microscopic studies of myofibroblasts can reveal differential features in various diseases. An analysis of myofibroblasts cultured from diagnostic BAL fluid samples may represent a new kind of tool for diagnostics and research into lung diseases.

  19. Analysis of Published Criteria for Clinically Inactive Disease in a Large Juvenile Dermatomyositis Cohort Shows That Skin Disease Is Underestimated

    Science.gov (United States)

    Almeida, Beverley; Campanilho‐Marques, Raquel; Arnold, Katie; Pilkington, Clarissa A.; Wedderburn, Lucy R.; Armon, Kate; Briggs, Vanja; Ellis‐Gage, Joe; Roper, Holly; Watts, Joanna; Baildam, Eileen; Hanna, Louise; Lloyd, Olivia; McCann, Liza; Roberts, Ian; McGovern, Ann; Riley, Phil; Al‐Abadi, Eslam; Ryder, Clive; Scott, Janis; Southwood, Taunton; Thomas, Beverley; Amin, Tania; Burton, Deborah; Jackson, Gillian; Van Rooyen, Vanessa; Wood, Mark; Wyatt, Sue; Browne, Michael; Davidson, Joyce; Ferguson, Sue; Gardner‐Medwin, Janet; Martin, Neil; Waxman, Liz; Foster, Helen; Friswell, Mark; Jandial, Sharmila; Qiao, Lisa; Sen, Ethan; Smith, Eve; Stevenson, Vicky; Swift, Alison; Wade, Debbie; Watson, Stuart; Crate, Lindsay; Frost, Anna; Jordan, Mary; Mosley, Ellen; Satyapal, Rangaraj; Stretton, Elizabeth; Venning, Helen; Warrier, Kishore; Almeida, Beverley; Arnold, Katie; Beard, Laura; Brown, Virginia; Campanilho‐Marques, Raquel; Enayat, Elli; Glackin, Yvonne; Halkon, Elizabeth; Hasson, Nathan; Juggins, Audrey; Kassoumeri, Laura; Lunt, Sian; Maillard, Sue; Nistala, Kiran; Pilkington, Clarissa; Simou, Stephanie; Smith, Sally; Varsani, Hemlata; Wedderburn, Lucy; Murray, Kevin; Ioannou, John; Suffield, Linda; Al‐Obaidi, Muthana; Leach, Sam; Lee, Helen; Smith, Helen; Inness, Emma; Kendall, Eunice; Mayers, David; Wilkinson, Nick; Clinch, Jacqui; Pluess‐Hall, Helen

    2015-01-01

    Objective The Pediatric Rheumatology International Trials Organisation (PRINTO) recently published criteria for classification of patients with juvenile dermatomyositis (DM) as having clinically inactive disease. The criteria require that at least 3 of 4 conditions be met, i.e., creatine kinase level ≤150 units/liter, Childhood Myositis Assessment Scale score ≥48, Manual Muscle Testing in 8 muscles score ≥78, and physician's global assessment of overall disease activity (PGA) ≤0.2. The present study was undertaken to test these criteria in a UK cohort of patients with juvenile DM. Methods We assessed 1,114 patient visits for the 4 items in the PRINTO criteria for clinically inactive disease. Each visit was analyzed to determine whether skin disease was present. The Disease Activity Score (DAS) for juvenile DM was determined in 59 patients. Results At 307 of the 1,114 visits, clinically inactive disease was achieved based on the 3 muscle criteria (but with a PGA of >0.2); rash was present at 65.8% of these visits and nailfold capillary abnormalities at 35.2%. When PGA ≤0.2 was one of the 3 criteria that were met, the frequency of skin signs was significantly lower (rash in 23.1% and nailfold capillary abnormalities in 8.7%). If PGA was considered an essential criterion for clinically inactive disease (P‐CID), patients with active skin disease were less likely to be categorized as having clinically inactive disease (a median DAS skin score of 0 [of a possible maximum of 9] in visits where the PGA was ≤0.2, versus a median DAS skin score of 4 in patients meeting the 3 muscle criteria [with a PGA of >0.2]; P < 0.001). Use of the P‐CID led to improvements in the positive predictive value and the positive likelihood ratio (85.4% and 11.0, respectively, compared to 72.9% and 5.1 with the current criteria). Conclusion There was a high frequency of skin disease among patients with juvenile DM who did not meet the PGA criterion for inactive disease but met

  20. ASIC1a Deficient Mice Show Unaltered Neurodegeneration in the Subacute MPTP Model of Parkinson Disease.

    Directory of Open Access Journals (Sweden)

    Daniel Komnig

    Full Text Available Inflammation contributes to the death of dopaminergic neurons in Parkinson disease and can be accompanied by acidification of extracellular pH, which may activate acid-sensing ion channels (ASIC. Accordingly, amiloride, a non-selective inhibitor of ASIC, was protective in an acute 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP mouse model of Parkinson disease. To complement these findings we determined MPTP toxicity in mice deficient for ASIC1a, the most common ASIC isoform in neurons. MPTP was applied i.p. in doses of 30 mg per kg on five consecutive days. We determined the number of dopaminergic neurons in the substantia nigra, assayed by stereological counting 14 days after the last MPTP injection, the number of Nissl positive neurons in the substantia nigra, and the concentration of catecholamines in the striatum. There was no difference between ASIC1a-deficient mice and wildtype controls. We are therefore not able to confirm that ASIC1a are involved in MPTP toxicity. The difference might relate to the subacute MPTP model we used, which more closely resembles the pathogenesis of Parkinson disease, or to further targets of amiloride.

  1. Autoimmune Hepatitis and Celiac Disease: Case Report Showing an Entero-Hepatic Link

    Directory of Open Access Journals (Sweden)

    Francesco Tovoli

    2010-10-01

    Full Text Available Celiac disease is an autoimmune disorder primarily targeting the small bowel, although extraintestinal extensions have been reported. The autoimmune processes can affect the liver with manifestations such as primary biliary cirrhosis and autoimmune hepatitis. We describe a 61-year-old woman with celiac disease and an increased levels of aminotransferases. The persistence of increased levels of aminotransferases after 1 year of gluten-free diet and the positivity for an anti-nuclear and anti-double-strand DNA antibodies led to a misdiagnosis of systemic lupus erythematosus-related hepatitis. Based on these findings the patient was placed on steroids, which after a few months were stopped because of the onset of diabetes mellitus. Soon after steroid withdrawal, the patient had a marked increase in aminotransferases and γ-globulins, and a liver biopsy revealed chronic active hepatitis. A course of three months of steroids and azathioprine normalized both biochemical and clinical parameters. Currently the patient is symptom-free and doing well. In conclusion, a hypertransaminasemia persisting after a gluten-free diet should be interpreted as a sign of coexisting autoimmune liver disease. Any autoantibody positivity (in this case to ANA and anti-dsDNA should be carefully considered in order to avoid misdiagnosis delaying appropriate clinical management.

  2. Integrative Analysis of Disease Signatures Shows Inflammation Disrupts Juvenile Experience-Dependent Cortical Plasticity

    Science.gov (United States)

    Smith, Milo R.; Burman, Poromendro

    2016-01-01

    Throughout childhood and adolescence, periods of heightened neuroplasticity are critical for the development of healthy brain function and behavior. Given the high prevalence of neurodevelopmental disorders, such as autism, identifying disruptors of developmental plasticity represents an essential step for developing strategies for prevention and intervention. Applying a novel computational approach that systematically assessed connections between 436 transcriptional signatures of disease and multiple signatures of neuroplasticity, we identified inflammation as a common pathological process central to a diverse set of diseases predicted to dysregulate plasticity signatures. We tested the hypothesis that inflammation disrupts developmental cortical plasticity in vivo using the mouse ocular dominance model of experience-dependent plasticity in primary visual cortex. We found that the administration of systemic lipopolysaccharide suppressed plasticity during juvenile critical period with accompanying transcriptional changes in a particular set of molecular regulators within primary visual cortex. These findings suggest that inflammation may have unrecognized adverse consequences on the postnatal developmental trajectory and indicate that treating inflammation may reduce the burden of neurodevelopmental disorders. PMID:28101530

  3. A novel class of thiosemicarbazones show multi-functional activity for the treatment of Alzheimer's disease.

    Science.gov (United States)

    Palanimuthu, Duraippandi; Poon, Rachal; Sahni, Sumit; Anjum, Rukhsana; Hibbs, David; Lin, Hsuan-Yu; Bernhardt, Paul V; Kalinowski, Danuta S; Richardson, Des R

    2017-10-20

    Over 44 million people live with Alzheimer's disease (AD) worldwide. Currently, only symptomatic treatments are available for AD and no cure exists. Considering the lack of effective treatments for AD due to its multi-factorial pathology, development of novel multi-target-directed drugs are desirable. Herein, we report the development of a novel series of thiosemicarbazones derived from 1-benzylpiperidine, a pharmacophore within the acetylcholinesterase inhibitor, Donepezil. These thiosemicarbazones were designed to target five major AD hallmarks, including: low acetylcholine levels, dysfunctional autophagy, metal dys-homeostasis, protein aggregation and oxidative stress. Of these thiosemicarbazones, pyridoxal 4-N-(1-benzylpiperidin-4-yl)thiosemicarbazone (PBPT) emerged as the lead compound. This agent demonstrated the most promising multi-functional activity by exhibiting very low anti-proliferative activity, substantial iron chelation efficacy, inhibition of copper-mediated amyloid-β aggregation, inhibition of oxidative stress, moderate acetylcholinesterase inhibitory activity and autophagic induction. These diverse properties highlight the potential of the lead ligand, PBPT, as a promising multi-functional agent for AD treatment. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  4. A Case of Porokeratosis Showing Different Clinical Patterns of the Disease with Anogenital Involvement

    Directory of Open Access Journals (Sweden)

    Özlem Karabudak

    2008-10-01

    Full Text Available Porokeratosis (PK is a group of cutaneous entities characterized by marginate scaling lesions, histologically showing a column of parakeratotic keratinocytes (cornoid lamella. Various forms are recognized such as porokeratosis of Mibelli (PM, linear porokeratosis, disseminated superficial actinic porokeratosis, punctate parakeratosis. PM should be treated because of the possibility of developing malignant epithelial tumors. We are presenting a 21 year old male patient suffering from PM on the back of the hands, foot, scrotum, oral mucosa and anal region. The histological biopsy specimens showed the characteristic features of porokeratosis. We destroyed the lesions by cryotherapy sessions. Here, we present a case of PM since it is rarely seen as multiple lesions with oral, anal and scrotal involvements altogether. (Turkderm 2008; 42: 97-9

  5. Coronary collateralization shows sex and racial-ethnic differences in obstructive artery disease patients.

    Directory of Open Access Journals (Sweden)

    Zhi Liu

    Full Text Available Coronary collateral circulation protects cardiac tissues from myocardial infarction damage and decreases sudden cardiac death. So far, it is unclear how coronary collateralization varies by race-ethnicity groups and by sex.We assessed 868 patients with obstructive CAD. Patients were assessed for collateral grades based on Rentrop grading system, as well as other covariates. DNA samples were genotyped using the Affymetrix 6.0 genotyping array. To evaluate genetic contributions to collaterals, we performed admixture mapping using logistic regression with estimated local and global ancestry.Overall, 53% of participants had collaterals. We found difference between sex and racial-ethnic groups. Men had higher rates of collaterals than women (P-value = 0.000175. White Hispanics/Latinos showed overall higher rates of collaterals than African Americans and non-Hispanic Whites (59%, 50% and 48%, respectively, P-value = 0.017, and especially higher rates in grade 1 and grade 3 collateralization than the other two populations (P-value = 0.0257. Admixture mapping showed Native American ancestry was associated with the presence of collaterals at a region on chromosome 17 (chr17:35,243,142-41,251,931, β = 0.55, P-value = 0.000127. African ancestry also showed association with collaterals at a different region on chromosome 17 (chr17: 32,266,966-34,463,323, β = 0.38, P-value = 0.00072.In our study, collateralization showed sex and racial-ethnic differences in obstructive CAD patients. We identified two regions on chromosome 17 that were likely to harbor genetic variations that influenced collateralization.

  6. Plasma and White Blood Cells Show Different miRNA Expression Profiles in Parkinson's Disease.

    Science.gov (United States)

    Schwienbacher, Christine; Foco, Luisa; Picard, Anne; Corradi, Eloina; Serafin, Alice; Panzer, Jörg; Zanigni, Stefano; Blankenburg, Hagen; Facheris, Maurizio F; Giannini, Giulia; Falla, Marika; Cortelli, Pietro; Pramstaller, Peter P; Hicks, Andrew A

    2017-06-01

    Parkinson's disease (PD) diagnosis is based on the assessment of motor symptoms, which manifest when more than 50% of dopaminergic neurons are degenerated. To date, no validated biomarkers are available for the diagnosis of PD. The aims of the present study are to evaluate whether plasma and white blood cells (WBCs) are interchangeable biomarker sources and to identify circulating plasma-based microRNA (miRNA) biomarkers for an early detection of PD. We profiled plasma miRNA levels in 99 L-dopa-treated PD patients from two independent data collections, in ten drug-naïve PD patients, and in unaffected controls matched by sex and age. We evaluated expression levels by reverse transcription and quantitative real-time PCR (RT-qPCR) and combined the results from treated PD patients using a fixed effect inverse-variance weighted meta-analysis. We revealed different expression profiles comparing plasma and WBCs and drug-naïve and L-dopa-treated PD patients. We observed an upregulation trend for miR-30a-5p in L-dopa-treated PD patients and investigated candidate target genes by integrated in silico analyses. We could not analyse miR-29b-3p, normally expressed in WBCs, due to the very low expression in plasma. We observed different expression profiles in WBCs and plasma, suggesting that they are both suitable but not interchangeable peripheral sources for biomarkers. We revealed miR-30a-5p as a potential biomarker for PD in plasma. In silico analyses suggest that miR-30a-5p might have a regulatory role in mitochondrial dynamics and autophagy. Further investigations are needed to confirm miR-30a-5p deregulation and targets and to investigate the influence of L-dopa treatment on miRNA expression levels.

  7. Reversible Cysteine Protease Inhibitors Show Promise for a Chagas Disease Cure

    Science.gov (United States)

    Beaulieu, Christian; Black, W. Cameron; Isabel, Elise; Vasquez-Camargo, Fabio; Nath-Chowdhury, Milli; Massé, Frédéric; Mellon, Christophe; Methot, Nathalie

    2014-01-01

    The cysteine protease cruzipain is essential for the viability, infectivity, and virulence of Trypanosoma cruzi, the causative agent of Chagas disease. Thus, inhibitors of cruzipain are considered promising anti-T. cruzi chemotherapeutic agents. Reversible cruzipain inhibitors containing a nitrile “warhead” were prepared and demonstrated 50% inhibitory concentrations (IC50s) as potent as 1 nM in baculovirus-generated cruzipain enzyme assays. In epimastigote and intracellular amastigote in vitro assays, the most potent compounds demonstrated antiparasitic behavior in the 5 to 10 μM IC50 range; however, trypomastigote production from the amastigote form was ∼90 to 95% inhibited at 2 μM. Two key compounds, Cz007 and Cz008, with IC50s of 1.1 and 1.8 nM, respectively, against the recombinant enzyme were tested in a murine model of acute T. cruzi infection, with oral dosing in chow for 28 days at doses from 3 to 50 mg/kg of body weight. At 3 mg/kg of Cz007 and 3 mg/kg of Cz008, the blood parasitemia areas under the concentration-time curves were 16% and 25% of the untreated group, respectively. At sacrifice, 24 days after immunosuppression with cyclophosphamide, parasite presence in blood, heart, and esophagus was evaluated. Based on negative quantitative PCR results in all three tissues, cure rates in surviving animals were 90% for Cz007 at 3 mg/kg, 78% for Cz008 at 3 mg/kg, and 71% for benznidazole, the control compound, at 50 mg/kg. PMID:24323474

  8. Plasmonic coaxial Fabry-Pérot nanocavity color filter

    Science.gov (United States)

    Si, G. Y.; Leong, E. S. P.; Danner, A. J.; Teng, J. H.

    2010-08-01

    Plamonic coaxial structures have drawn considerable attetion recently because of their unique properties. They exhibit different mechanisms of extraordinary optical transmission observed from subwavelength holes and they can support localized Fabry-Pérot plasmon modes. In this work, we experimentally demonstrate color filters based on coaxial structures fabricated in optically thick metallic films. Using nanogaps with different apertures from 160 nm down to only 40 nm, we show varying color outputs when the annular aperture arrays are illuminated with a broadband light source. Effective color-filter function is demonstrated in the optical regime. Different color outputs are observed and optical spectra are measured. In such structures, it is the propagating mode playing an important role rather than the evanescent. Resonances depend strongly on ring apertures, enabling devices with tunability of output colors using simple geometry control.

  9. Brains with sporadic Creutzfeldt-Jakob disease and copathology showed a prolonged end-stage of disease.

    Science.gov (United States)

    Miguelez-Rodriguez, Aitzol; Santos-Juanes, Jorge; Vicente-Etxenausia, Ikerne; Perez de Heredia-Goñi, Katty; Garcia, Beatriz; Quiros, Luis M; Lorente-Gea, Laura; Guerra-Merino, Isabel; Aguirre, Jose J; Fernandez-Vega, Ivan

    2018-05-01

    To investigate the expression of major proteins related to primary neurodegenerative diseases and their prognostic significance in brains with Creutzfeldt-Jakob disease (CJD). Thirty consecutive cases of confirmed CJD during the period 2010-2015 at Basque Brain bank were retrospectively reviewed. Moreover, major neurodegenerative-associated proteins (phosphorylated Tau, 4R tau, 3R tau, alpha-synuclein, TDP43, amyloid beta) were tested. Clinical data were reviewed. Cases were divided according to the presence or absence of copathology. Survival curves were also determined. Copathology was significantly associated with survival in brains with CJD (4.2±1.2 vs 9.2±1.9; P=0.019) and in brains with MM1/MV1 CJD (2.1±1.0 vs 6.7±2.8; P=0.012). Besides, the presence of more than one major neurodegenerative-associated protein was significantly associated with survival (4.2±1.2 vs 10.7±2.6; P=0.017). Thus, univariate analyses further pointed out variables significantly associated with better survival: copathology in CJD (HR=0.430; P=0.033); more than one neurodegenerative-associated protein in CJD (HR=0.369; P=0.036) and copathology in MM1/MV1 CJD (HR=0.525; P=0.032). The existence of copathology significantly prolongs survival in patients with rapidly progressive dementia due to CJD. The study of major neurodegenerative-associated proteins in brains with CJD could allow us to further understand the molecular mechanisms behind prion diseases. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  10. Protocol and methodology of the Stroke in Young Fabry Patients (sifap1) study: a prospective multicenter European study of 5,024 young stroke patients aged 18-55 years.

    LENUS (Irish Health Repository)

    Rolfs, Arndt

    2011-01-01

    Stroke in the young has not been thoroughly investigated with most previous studies based on a small number of patients from single centers. Furthermore, recent reports indicate that Fabry disease may be a significant cause for young stroke. The primary aim of our study was to determine the prevalence of Fabry disease in young stroke patients, while the secondary aim was to describe patterns of stroke in young patients.

  11. Storage of laser pulses in a Fabry-Perot optical cavity for high flux x-ray

    International Nuclear Information System (INIS)

    Takezawa, K.; Honda, Y.; Sasao, N.; Araki, S.; Higashi, Y.; Taniguchi, T.; Urakawa, J.; Nomura, M.; Sakai, H.

    2004-01-01

    We have a plan to produce a high flux x-ray for medical use by using a Fabry-Perot optical cavity in which the lower pulses from a mode-locked laser are stored and enhanced. In this plan, the X-ray is produced from the Compton scattering of electrons in a storage ring with the laser light in the optical cavity. In order to increase X-ray flux, high power laser light is necessary. We show the enhancement of the laser power from the model locked laser with a Fabry-Perot optical cavity. (author)

  12. Pemodelan Tapis Fabry-perot pada Serat Optik dengan Menggunakan Fiber Bragg Grating

    OpenAIRE

    Pramuliawati, Septi; ', Saktioto; ', Defrianto

    2015-01-01

    Fabry-perot filter was successfully developed by a uniform Fiber Bragg Grating in fiber optic. A characterization of Bragg Grating was analyzed by using computational model with second-order of Transfer Matrix Method based on Coupled Mode Theory. The reflectivity, length of grating, and bandwidth were parametrics to determine the performance of single Bragg Grating. The transmission spectrum showed the longer grating is designed, the larger the reflectivity was produced, so that the transmiss...

  13. Extracellular and Intracellular Cyclophilin A, Native and Post-Translationally Modified, Show Diverse and Specific Pathological Roles in Diseases.

    Science.gov (United States)

    Xue, Chao; Sowden, Mark P; Berk, Bradford C

    2018-05-01

    CypA (cyclophilin A) is a ubiquitous and highly conserved protein with peptidyl prolyl isomerase activity. Because of its highly abundant level in the cytoplasm, most studies have focused on the roles of CypA as an intracellular protein. However, emerging evidence suggests an important role for extracellular CypA in the pathogenesis of several diseases through receptor (CD147 or other)-mediated autocrine and paracrine signaling pathways. In this review, we will discuss the shared and unique pathological roles of extracellular and intracellular CypA in human cardiovascular diseases. In addition, the evolving role of post-translational modifications of CypA in the pathogenesis of disease is discussed. Finally, recent studies with drugs specific for extracellular CypA show its importance in disease pathogenesis in several animal models and make extracellular CypA a new therapeutic target. © 2018 American Heart Association, Inc.

  14. Conductance oscillation in graphene-nanoribbon-based electronic Fabry-Perot resonators

    International Nuclear Information System (INIS)

    Zhang Yong; Han Mei; Shen Linjiang

    2010-01-01

    By using the tight-binding approximation and the Green's function method, the quantum conductance of the Fabry-Perot-like electronic resonators composed of zigzag and metallic armchair edge graphene nanoribbons (GNRs) was studied numerically. Obtained results show that due to Fabry-Perot-like electronic interference, the conductance of the GNR resonators oscillates periodically with the Fermi energy. The effects of disorders and coupling between the electrodes and the GNR on conductance oscillations were explored. It is found that the conductance oscillations appear at the strong coupling and become resonant peaks as the coupling is very weak. It is also found that the strong disorders in the GNR can smear the conductance oscillation periods. In other words, the weak coupling and the strong disorders all can blur the conductance oscillations, making them unclearly distinguished.

  15. Thyroid-specific questions on work ability showed known-groups validity among Danes with thyroid diseases.

    Science.gov (United States)

    Nexo, Mette Andersen; Watt, Torquil; Bonnema, Steen Joop; Hegedüs, Laszlo; Rasmussen, Åse Krogh; Feldt-Rasmussen, Ulla; Bjorner, Jakob Bue

    2015-07-01

    We aimed to identify the best approach to work ability assessment in patients with thyroid disease by evaluating the factor structure, measurement equivalence, known-groups validity, and predictive validity of a broad set of work ability items. Based on the literature and interviews with thyroid patients, 24 work ability items were selected from previous questionnaires, revised, or developed anew. Items were tested among 632 patients with thyroid disease (non-toxic goiter, toxic nodular goiter, Graves' disease (with or without orbitopathy), autoimmune hypothyroidism, and other thyroid diseases), 391 of which had participated in a study 5 years previously. Responses to select items were compared to general population data. We used confirmatory factor analyses for categorical data, logistic regression analyses and tests of differential item function, and head-to-head comparisons of relative validity in distinguishing known groups. Although all work ability items loaded on a common factor, the optimal factor solution included five factors: role physical, role emotional, thyroid-specific limitations, work limitations (without disease attribution), and work performance. The scale on thyroid-specific limitations showed the most power in distinguishing clinical groups and time since diagnosis. A global single item proved useful for comparisons with the general population, and a thyroid-specific item predicted labor market exclusion within the next 5 years (OR 5.0, 95 % CI 2.7-9.1). Items on work limitations with attribution to thyroid disease were most effective in detecting impact on work ability and showed good predictive validity. Generic work ability items remain useful for general population comparisons.

  16. Identification of DNA Fragments that Showed Linkage to the Radiation-induced Yellow Vein Mosaic Disease Resistance Mutation in Okra

    International Nuclear Information System (INIS)

    Boonsirichai, Kanokporn; Phadvibulya, Valailak; Adthalungrong, Amnuai; Srithongchai, Wanphen; Puripunyavanich, Vichai

    2007-08-01

    Full text: The yellow vein mosaic disease resistant mutant of okra was crossed to Pichit 03, a susceptible variety. Their progeny showed prolonged resistance when compared with Pichit 03. DNA fingerprints of F2 and BC1F1 individuals from the cross indicated that most DNA bands did not segregate with either the resistance or the susceptible characteristics. Nonetheless, polymorphic DNA bands could be identified between the mutant and Okura, the parental variety

  17. Clinical and biomarker changes in premanifest Huntington disease show trial feasibility: a decade of the PREDICT-HD study

    Directory of Open Access Journals (Sweden)

    Jane S Paulsen

    2014-04-01

    Full Text Available There is growing consensus that intervention and treatment of Huntington disease (HD should occur at the earliest stage possible. Various early-intervention methods for this fatal neurodegenerative disease have been identified, but preventive clinical trials for HD are limited by a lack of knowledge of the natural history of the disease and a dearth of appropriate outcome measures. Objectives of the current study are to document the natural history of premanifest HD progression in the largest cohort ever studied and to develop a battery of imaging and clinical markers of premanifest HD progression that can be used as outcome measures in preventive clinical trials. PREDICT-HD is a 32-site, international, observational study of premanifest HD, with annual examination of 1013 participants with premanifest HD and 301 gene-expansion negative controls between 2001 and 2012. Findings document 39 variables representing imaging, motor, cognitive, functional, and psychiatric domains, showing different rates of decline between premanifest Huntington disease and controls. Required sample size and models of premanifest HD are presented to inform future design of clinical and preclinical research. Preventive clinical trials in premanifest HD with participants who have a medium or high probability of motor onset are calculated to be as resource-effective as those conducted in diagnosed HD and could interrupt disease seven to twelve years earlier. Methods and measures for preventive clinical trials in premanifest HD more than a dozen years from motor onset are also feasible. These findings represent the most thorough documentation of a clinical battery for experimental therapeutics in stages of premanifest HD, the time period for which effective intervention may provide the most positive possible outcome for patients and their families affected by this devastating disease.

  18. Graves' Disease Patients with Persistent Hyperthyroidism and Diffuse Lymphoplasmacytic Infiltration in the Thyroid Show No Histopathological Compatibility with IgG4-Related Disease.

    Directory of Open Access Journals (Sweden)

    Eijun Nishihara

    Full Text Available IgG4-related disease is a novel disease entity characterized by diffuse lymphoplasmacytic infiltration rich in IgG4-positive plasma cells and fibrosis into multiple organs. There is still controversy over whether some thyroid diseases are actually IgG4-related disease. The objective of this study was to elucidate the clinicopathological features of Graves' disease with diffuse lymphoplasmacytic infiltration in the thyroid.Among 1,484 Graves' disease patients who underwent thyroidectomy, we examined their histopathological findings including the degree of lymphoplasmacytic and fibrotic infiltration and levels of IgG4-positive plasma cells in the thyroid. Their clinical pictures were defined by laboratory and ultrasonographic evaluation.A total of 11 patients (0.74% showed diffuse lymphoplasmacytic infiltration in the stroma of the thyroid gland. Meanwhile, other patients showed variable lymphoid infiltration ranging from absent to focally dense but no aggregation of plasma cells in the thyroid gland. Based on the diagnostic criteria of IgG4-related disease, 5 of the 11 subjects had specifically increased levels of IgG4-positive plasma cells in the thyroid. Fibrotic infiltration was present in only 1 patient developing hypothyroidism after anti-thyroid drug treatment for 4 years, but not in the other 10 patients with persistent hyperthyroidism. Obliterative phlebitis was not identified in any of the 11 subjects. Thyroid ultrasound examination showed 1 patient developing hypothyroidism who had diffuse hypoechogenicity, but the other hyperthyroid patients had a coarse echo texture.In our study, Graves' disease patients with persistent hyperthyroidism who had diffuse lymphoplasmacytic infiltration rich in IgG4-positive plasma cells in the thyroid showed no concomitant fibrosis or obliterative phlebitis.

  19. Lectin Staining Shows no Evidence of Involvement of Glycocalyx/Mucous Layer Carbohydrate Structures in Development of Celiac Disease

    Directory of Open Access Journals (Sweden)

    Henrik Toft-Hansen

    2013-11-01

    Full Text Available The presence of unique carbohydrate structures in the glycocalyx/mucous layer of the intestine may be involved in a susceptibility to celiac disease (CD by serving as attachment sites for bacteria. This host-microbiota interaction may influence the development of CD and possibly other diseases with autoimmune components. We examined duodenal biopsies from a total of 30 children, of which 10 had both celiac disease (CD and type 1 diabetes (T1D; 10 had CD alone; and 10 were suspected of having gastrointestinal disease, but had normal duodenal histology (non-CD controls. Patients with both CD and T1D were examined before and after remission following a gluten-free diet. We performed lectin histochemistry using peanut agglutinin (PNA and Ulex europaeus agglutinin (UEA staining for Gal-β(1,3-GalNAc and Fucα1-2Gal-R, respectively, of the glycocalyx/mucous layer. The staining was scored based on dissemination of stained structures on a scale from 0 to 3. Evaluation of the scores revealed no difference between biopsies obtained before and after remission in the group of children with both CD and T1D. A comparison of this pre-remission group with the children who had CD alone or the non-CD controls also showed no significant differences. Based on our material, we found no indication that the presence of Gal-β(1,3-GalNAc or Fucα1-2Gal-R is involved in the susceptibility to CD, or that the disease process affects the expression of these carbohydrates.

  20. Lectin Staining Shows no Evidence of Involvement of Glycocalyx/Mucous Layer Carbohydrate Structures in Development of Celiac Disease

    Science.gov (United States)

    Toft-Hansen, Henrik; Nielsen, Christian; Biagini, Matteo; Husby, Steffen; Lillevang, Søren T.

    2013-01-01

    The presence of unique carbohydrate structures in the glycocalyx/mucous layer of the intestine may be involved in a susceptibility to celiac disease (CD) by serving as attachment sites for bacteria. This host-microbiota interaction may influence the development of CD and possibly other diseases with autoimmune components. We examined duodenal biopsies from a total of 30 children, of which 10 had both celiac disease (CD) and type 1 diabetes (T1D); 10 had CD alone; and 10 were suspected of having gastrointestinal disease, but had normal duodenal histology (non-CD controls). Patients with both CD and T1D were examined before and after remission following a gluten-free diet. We performed lectin histochemistry using peanut agglutinin (PNA) and Ulex europaeus agglutinin (UEA) staining for Gal-β(1,3)-GalNAc and Fucα1-2Gal-R, respectively, of the glycocalyx/mucous layer. The staining was scored based on dissemination of stained structures on a scale from 0 to 3. Evaluation of the scores revealed no difference between biopsies obtained before and after remission in the group of children with both CD and T1D. A comparison of this pre-remission group with the children who had CD alone or the non-CD controls also showed no significant differences. Based on our material, we found no indication that the presence of Gal-β(1,3)-GalNAc or Fucα1-2Gal-R is involved in the susceptibility to CD, or that the disease process affects the expression of these carbohydrates. PMID:24253051

  1. MRI of the SI joints commonly shows non-inflammatory disease in patients clinically suspected of sacroiliitis

    Energy Technology Data Exchange (ETDEWEB)

    Jans, L., E-mail: lennartjans@hotmail.com [Department of Radiology and Medical Imaging, Ghent University Hospital, De Pintelaan 185, 9000 Gent (Belgium); Van Praet, L.; Elewaut, D.; Van den Bosch, F.; Carron, P. [Department of Rheumatology, Ghent University Hospital, De Pintelaan 185, 9000 Gent (Belgium); Jaremko, J.L. [Department of Radiology, University of Alberta Hospital, 8440-112 Street, Edmonton T6G 2B7, Alberta (Canada); Behaeghe, M.; Denis, A.; Huysse, W.; Lambrecht, V.; Verstraete, K. [Department of Radiology and Medical Imaging, Ghent University Hospital, De Pintelaan 185, 9000 Gent (Belgium)

    2014-01-15

    Purpose: To determine the prevalence of clinically relevant non-inflammatory disease on MRI of the sacroiliac (SI) joints in patients suspected of sacroiliitis. To assess the added value of axial imaging of the pelvis in these patients. Methods: In a retrospective study of 691 patients undergoing MRI of the SI joints from January 2006 to December 2012 for inflammatory back pain the prevalence of sacroiliitis and non-inflammatory disease was recorded. Results: In 285 (41%) patients MRI did not show any abnormal findings. In 36% of patients MRI features of sacroiliitis were present. Spinal degenerative changes were the most common non-inflammatory finding in 305 patients (44.1%) and consisted of disc degeneration in 222 (32%) patients, facet joint arthrosis in 58 (8.4%) patients and disc herniation in 25 (3.6%) patients. Hip joint disease in 44 (6.4%) patients, lumbosacral transitional anomaly in 41 (5.9%) patients, SI joint degenerative changes in 25 (3.6%) patients and diffuse idiopathic skeletal hyperostosis in 24 (3.5%) patients were also common. Osteitis condensans ilii in 17 (2.5%) patients, tumour in 11 (1.6%) patients, fracture in 8 (1.2%) patients, infection in 4 (0.6%) patients and acute spondylolysis in 2 patients (0.3%) were less frequently seen. Conclusion: Our study shows that non-inflammatory disease is more common than true sacroiliitis on MRI of the SI joints in patients with inflammatory type back pain. Axial pulse sequences may demonstrate unexpected findings that remain undetected if only coronal images are obtained. Clinical relevance statement:, MRI of the SI joints may demonstrate conditions that clinically mimic sacroiliitis. Axial imaging of the pelvis may help detect these unexpected findings.

  2. MRI of the SI joints commonly shows non-inflammatory disease in patients clinically suspected of sacroiliitis

    International Nuclear Information System (INIS)

    Jans, L.; Van Praet, L.; Elewaut, D.; Van den Bosch, F.; Carron, P.; Jaremko, J.L.; Behaeghe, M.; Denis, A.; Huysse, W.; Lambrecht, V.; Verstraete, K.

    2014-01-01

    Purpose: To determine the prevalence of clinically relevant non-inflammatory disease on MRI of the sacroiliac (SI) joints in patients suspected of sacroiliitis. To assess the added value of axial imaging of the pelvis in these patients. Methods: In a retrospective study of 691 patients undergoing MRI of the SI joints from January 2006 to December 2012 for inflammatory back pain the prevalence of sacroiliitis and non-inflammatory disease was recorded. Results: In 285 (41%) patients MRI did not show any abnormal findings. In 36% of patients MRI features of sacroiliitis were present. Spinal degenerative changes were the most common non-inflammatory finding in 305 patients (44.1%) and consisted of disc degeneration in 222 (32%) patients, facet joint arthrosis in 58 (8.4%) patients and disc herniation in 25 (3.6%) patients. Hip joint disease in 44 (6.4%) patients, lumbosacral transitional anomaly in 41 (5.9%) patients, SI joint degenerative changes in 25 (3.6%) patients and diffuse idiopathic skeletal hyperostosis in 24 (3.5%) patients were also common. Osteitis condensans ilii in 17 (2.5%) patients, tumour in 11 (1.6%) patients, fracture in 8 (1.2%) patients, infection in 4 (0.6%) patients and acute spondylolysis in 2 patients (0.3%) were less frequently seen. Conclusion: Our study shows that non-inflammatory disease is more common than true sacroiliitis on MRI of the SI joints in patients with inflammatory type back pain. Axial pulse sequences may demonstrate unexpected findings that remain undetected if only coronal images are obtained. Clinical relevance statement:, MRI of the SI joints may demonstrate conditions that clinically mimic sacroiliitis. Axial imaging of the pelvis may help detect these unexpected findings

  3. Feedback stabilized tandem Fabry-Perot interferometer

    International Nuclear Information System (INIS)

    Fukushima, Hiroyuki; Ito, Mikio; Shirasu, Hiroshi.

    1986-01-01

    A new system for measuring the isotopic ratio of uranium, in which two plane-type Fabry-Perot interferometers (tandem FP) are connected in series. The parallelism between the two FPs is achieved automatically by a feedback control mechanism based on laser interference fringe monitoring. The structure of the tandem FP, feedback control system, automatic parallelism adjustment mechanism and wavelength synchronization mechanism are described in detail. For experiments, a hollow cathode discharge tube of a pulse discharge type is employed. Measurements are made to determine the effects of pulse width on the 238 U peak height of 502.7 nm line, recorder traces of 235 U and 238 U lines, half width for 238 U component of the 502.7 nm line, SN ratio, reproducibility of the 235 U/ 238 U peak height ratio and 235 U/ 238 U intensity ratio. Considerations are made on the spectral line width, contrast, transmission factor, and stability of automatic parallelism control and wavelength synchronization. Results obtained indicates that a single-type interferometer would serve adequately for measuring the 235 U/ 238 U ratio if the automatic parallelism control developed here is used. The ultimate object of the tandem system is to make measurement of 236 U. Satisfactory results have not obtained as yet, but most likely the present system would make it possible if a light source of a higher intensity and advanced photometric techniques are developed. (Nogami, K.)

  4. Newcastle Disease Viruses Causing Recent Outbreaks Worldwide Show Unexpectedly High Genetic Similarity to Historical Virulent Isolates from the 1940s

    Science.gov (United States)

    Dimitrov, Kiril M.; Lee, Dong-Hun; Williams-Coplin, Dawn; Olivier, Timothy L.; Miller, Patti J.

    2016-01-01

    Virulent strains of Newcastle disease virus (NDV) cause Newcastle disease (ND), a devastating disease of poultry and wild birds. Phylogenetic analyses clearly distinguish historical isolates (obtained prior to 1960) from currently circulating viruses of class II genotypes V, VI, VII, and XII through XVIII. Here, partial and complete genomic sequences of recent virulent isolates of genotypes II and IX from China, Egypt, and India were found to be nearly identical to those of historical viruses isolated in the 1940s. Phylogenetic analysis, nucleotide distances, and rates of change demonstrate that these recent isolates have not evolved significantly from the most closely related ancestors from the 1940s. The low rates of change for these virulent viruses (7.05 × 10−5 and 2.05 × 10−5 per year, respectively) and the minimal genetic distances existing between these and historical viruses (0.3 to 1.2%) of the same genotypes indicate an unnatural origin. As with any other RNA virus, Newcastle disease virus is expected to evolve naturally; thus, these findings suggest that some recent field isolates should be excluded from evolutionary studies. Furthermore, phylogenetic analyses show that these recent virulent isolates are more closely related to virulent strains isolated during the 1940s, which have been and continue to be used in laboratory and experimental challenge studies. Since the preservation of viable viruses in the environment for over 6 decades is highly unlikely, it is possible that the source of some of the recent virulent viruses isolated from poultry and wild birds might be laboratory viruses. PMID:26888902

  5. A patient with Graves’ disease showing only psychiatric symptoms and negativity for both TSH receptor autoantibody and thyroid stimulating antibody

    Directory of Open Access Journals (Sweden)

    Hamasaki Hidetaka

    2012-12-01

    Full Text Available Abstract Background Both thyroid stimulating hormone (TSH and thyroid stimulating antibody (TSAb negative Graves’s disease (GD is extremely rare. Here we present such a patient. Case presentation The patient was a 76-year-old woman who was diagnosed as having schizophrenia forty years ago. She did not show characteristic symptoms for hyperthyroidism, such as swelling of thyroid, exophthalmos, tachycardia and tremor, however, she showed only psychomotor agitation. Serum free triiodothyronine and free thyroxine levels were elevated and TSH level was suppressed, suggesting the existence of hyperthyroidism. However, both the first generation TSH receptor autoantibody (TRAb1 and the thyroid stimulating autoantibody (TSAb were negative. Slightly increased blood flow and swelling was detected by thyroid echography. Thyroid scintigraphy demonstrated diffuse and remarkably elevated uptake of 123I uptake. Finally, we diagnosed her as having GD. She was treated by using methimazole, and hyperthyroidism and her psychiatric symptoms were promptly ameliorated. Discussion We experienced a patient with GD who did not show characteristic symptoms except for psychiatric symptoms, and also showed negativity for both TRAb1 and TSAb. Thyroid autoantibody-negative GD is extremely rare. Thyroid scintigraphy was useful to diagnose such a patient.

  6. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry

    DEFF Research Database (Denmark)

    Wilcox, W.R.; Oliveira, J.P.; Hopkin, R.J.

    2008-01-01

    been made to enroll all FD females, regardless of symptomology. Of the 1077 enrolled females in the Registry, 69.4% had symptoms and signs of FD. The median age at symptom onset among females was 13 years, and even though 84.1% had a positive family history, the diagnosis was not made until a median...

  7. Fourier transform infrared imaging showing reduced unsaturated lipid content in the hippocampus of a mouse model of Alzheimer's disease.

    Science.gov (United States)

    Leskovjan, Andreana C; Kretlow, Ariane; Miller, Lisa M

    2010-04-01

    Polyunsaturated fatty acids are essential to brain functions such as membrane fluidity, signal transduction, and cell survival. It is also thought that low levels of unsaturated lipid in the brain may contribute to Alzheimer's disease (AD) risk or severity. However, it is not known how accumulation of unsaturated lipids is affected in different regions of the hippocampus, which is a central target of AD plaque pathology, during aging. In this study, we used Fourier transform infrared imaging (FTIRI) to visualize the unsaturated lipid content in specific regions of the hippocampus in the PSAPP mouse model of AD as a function of plaque formation. Specifically, the unsaturated lipid content was imaged using the olefinic =CH stretching mode at 3012 cm(-1). The axonal, dendritic, and somatic layers of the hippocampus were examined in the mice at 13, 24, 40, and 56 weeks old. Results showed that lipid unsaturation in the axonal layer was significantly increased with normal aging in control (CNT) mice (p avoiding progression of the disease.

  8. On-chip optical filter comprising Fabri-Perot resonator structure and spectrometer

    Energy Technology Data Exchange (ETDEWEB)

    Han, Seunghoon; Horie, Yu; Faraon, Andrei; Arbabi, Amir

    2018-04-10

    An on-chip optical filter having Fabri-Perot resonators and a spectrometer may include a first sub-wavelength grating (SWG) reflecting layer and a second SWG reflecting layer facing each other. A plurality of Fabri-Perot resonators are formed by the first SWG reflecting layer and the second SWG reflecting layer facing each other. Each of the Fabri-Perot resonators may transmit light corresponding to a resonance wavelength of the Fabri-Perot resonator. The resonance wavelengths of the Fabri-Perot resonators may be determined according to duty cycles of grating patterns.

  9. Noncommunicable Diseases: Three Decades Of Global Data Show A Mixture Of Increases And Decreases In Mortality Rates.

    Science.gov (United States)

    Ali, Mohammed K; Jaacks, Lindsay M; Kowalski, Alysse J; Siegel, Karen R; Ezzati, Majid

    2015-09-01

    Noncommunicable diseases are the leading health concerns of the modern era, accounting for two-thirds of global deaths, half of all disability, and rapidly growing costs. To provide a contemporary overview of the burdens caused by noncommunicable diseases, we compiled mortality data reported by authorities in forty-nine countries for atherosclerotic cardiovascular diseases; diabetes; chronic respiratory diseases; and lung, colon, breast, cervical, liver, and stomach cancers. From 1980 to 2012, on average across all countries, mortality for cardiovascular disease, stomach cancer, and cervical cancer declined, while mortality for diabetes, liver cancer, and female chronic respiratory disease and lung cancer increased. In contrast to the relatively steep cardiovascular and cancer mortality declines observed in high-income countries, mortality for cardiovascular disease and chronic respiratory disease was flat in most low- and middle-income countries, which also experienced increasing breast and colon cancer mortality. These divergent mortality patterns likely reflect differences in timing and magnitude of risk exposures, health care, and policies to counteract the diseases. Improving both the coverage and the accuracy of mortality documentation in populous low- and middle-income countries is a priority, as is the need to rigorously evaluate societal-level interventions. Furthermore, given the complex, chronic, and progressive nature of noncommunicable diseases, policies and programs to prevent and control them need to be multifaceted and long-term, as returns on investment accrue with time. Project HOPE—The People-to-People Health Foundation, Inc.

  10. TAURUS - a wide field imaging Fabry-Perot spectrometer

    International Nuclear Information System (INIS)

    Atherton, P.D.; Taylor, K.

    1983-01-01

    TAURUS, an imaging Fabry-Perot system developed by the Royal Greenwich Observatory and Imperial College London, is described. The imaging process is explained and the technique is compared with grating spectrographs. It is argued that TAURUS is superior for obtaining field information from extended emission line sources. (Auth.)

  11. Lixisenatide, a drug developed to treat type 2 diabetes, shows neuroprotective effects in a mouse model of Alzheimer's disease.

    Science.gov (United States)

    McClean, Paula L; Hölscher, Christian

    2014-11-01

    Type 2 diabetes is a risk factor for developing Alzheimer's disease (AD). In the brains of AD patients, insulin signalling is desensitised. The incretin hormone Glucagon-like peptide-1 (GLP-1) facilitates insulin signalling, and analogues such as liraglutide are on the market as treatments for type 2 diabetes. We have previously shown that liraglutide showed neuroprotective effects in the APPswe/PS1ΔE9 mouse model of AD. Here, we test the GLP-1 receptor agonist lixisenatide in the same mouse model and compare the effects to liraglutide. After ten weeks of daily i.p. injections with liraglutide (2.5 or 25 nmol/kg) or lixisenatide (1 or 10 nmol/kg) or saline of APP/PS1 mice at an age when amyloid plaques had already formed, performance in an object recognition task was improved in APP/PS1 mice by both drugs at all doses tested. When analysing synaptic plasticity in the hippocampus, LTP was strongly increased in APP/PS1 mice by either drug. Lixisenatide (1 nmol/kg) was most effective. The reduction of synapse numbers seen in APP/PS1 mice was prevented by the drugs. The amyloid plaque load and dense-core Congo red positive plaque load in the cortex was reduced by both drugs at all doses. The chronic inflammation response (microglial activation) was also reduced by all treatments. The results demonstrate that the GLP-1 receptor agonists liraglutide and lixisenatide which are on the market as treatments for type 2 diabetes show promise as potential drug treatments of AD. Lixisenatide was equally effective at a lower dose compared to liraglutide in some of the parameters measured. Copyright © 2014 Elsevier Ltd. All rights reserved.

  12. Whole blood DNA aberrant methylation in pancreatic adenocarcinoma shows association with the course of the disease: a pilot study.

    Directory of Open Access Journals (Sweden)

    Albertas Dauksa

    Full Text Available Pancreatic tumors are usually diagnosed at an advanced stage in the progression of the disease, thus reducing the survival chances of the patients. Non-invasive early detection would greatly enhance therapy and survival rates. Toward this aim, we investigated in a pilot study the power of methylation changes in whole blood as predictive markers for the detection of pancreatic tumors. We investigated methylation levels at selected CpG sites in the CpG rich regions at the promoter regions of p16, RARbeta, TNFRSF10C, APC, ACIN1, DAPK1, 3OST2, BCL2 and CD44 in the blood of 30 pancreatic tumor patients and in the blood of 49 matching controls. In addition, we studied LINE-1 and Alu repeats using degenerate amplification approach as a surrogate marker for genome-wide methylation. The site-specific methylation measurements at selected CpG sites were done by the SIRPH method. Our results show that in the patient's blood, tumor suppressor genes were slightly but significantly higher methylated at several CpG sites, while repeats were slightly less methylated compared to control blood. This was found to be significantly associated with higher risk for pancreatic ductal adenocarcinoma. Additionally, high methylation levels at TNFRSCF10C were associated with positive perineural spread of tumor cells, while higher methylation levels of TNFRSF10C and ACIN1 were significantly associated with shorter survival. This pilot study shows that methylation changes in blood could provide a promising method for early detection of pancreatic tumors. However, larger studies must be carried out to explore the clinical usefulness of a whole blood methylation based test for non-invasive early detection of pancreatic tumors.

  13. Loci Affecting Gamma-Glutamyl Transferase in Adults and Adolescents Show Age X SNP interaction and Cardiometabolic Disease Associations

    NARCIS (Netherlands)

    Middelberg, R.P.S.; Benyamin, B.; de Moor, M.H.M.; Warrington, N.M.; Gordon, S.; Henders, A.K.; Medland, S.E.; Nyholt, DR; de Geus, E.J.C.; Hottenga, J.J.; Willemsen, G.; Beilin, L.J.; Mori, T.A.; Wright, M.J.; Heath, A.C.; Madden, P.A.F.; Boomsma, D.I.; Pennell, C.E.; Montgomery, G.W.; Martin, N.G.; Whitfield, J.B.

    2012-01-01

    Serum gamma-glutamyl transferase (GGT) activity is a marker of liver disease which is also prospectively associated with the risk of all-cause mortality, cardiovascular disease, type 2 diabetes and cancers. We have discovered novel loci affecting GGT in a genome-wide association study (rs1497406 in

  14. Thyroid-specific questions on work ability showed known-groups validity among Danes with thyroid diseases

    DEFF Research Database (Denmark)

    Nexo, Mette A.; Watt, Torquil; Bonnema, Steen Joop

    2014-01-01

    and interviews with thyroid patients, 24 work ability items were selected from previous questionnaires, revised, or developed anew. Items were tested among 632 patients with thyroid disease (non-toxic goiter, toxic nodular goiter, Graves' disease (with or without orbitopathy), autoimmune hypothyroidism...

  15. Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.

    Science.gov (United States)

    Schiffmann, Raphael; Forni, Sabrina; Swift, Caren; Brignol, Nastry; Wu, Xiaoyang; Lockhart, David J; Blankenship, Derek; Wang, Xuan; Grayburn, Paul A; Taylor, Matthew R G; Lowes, Brian D; Fuller, Maria; Benjamin, Elfrida R; Sweetman, Lawrence

    2014-02-04

    Elevated urinary globotriaosylceramide (Gb3) has been considered a hallmark of Fabry disease, an X-linked lysosomal disorder that is a risk factor for most types of heart disease. We screened 1421 consecutive patients with common forms of heart disease for Fabry disease by measuring urinary Gb3 in whole urine using tandem mass spectrometry, α-galactosidase A activity in dried blood spots, and we looked for GLA mutations by parallel sequencing of the whole gene (exons and introns) in pooled genomic DNA samples followed by Sanger sequencing verification. GLA variants were found in 13 patients. In the 1408 patients without GLA mutations, urinary Gb3 levels were significantly higher in heart disease patients compared to 116 apparently healthy controls (median difference=10.0 ng/mL and P<0.001). Urinary lipid profiling showed that levels of 5 other lipids significantly distinguished between urine of patients with Fabry disease (n=7) and heart disease patients with elevated urinary Gb3 (n=6). Sphingomyelin and Gb3 levels were abnormal in the left ventricular wall of patients with ischemic heart failure. Elevated levels of urinary Gb3 were independently associated with increased risk of death in the average follow-up of 17 months (hazard ratio=1.59 for increase in Gb3 of 200, 95% CI=1.36 and 1.87, and P<0.0001). In heart disease patients who do not have Fabry disease or GLA gene mutations, a higher level of urinary Gb3 is positively associated with near-term mortality. The elevation of urinary Gb3 and that of other lipids suggests that heart disease is associated with multiorgan lipid abnormalities. clinicaltrials.gov. Unique Identifier: NCT01019629.

  16. The BACHD Rat Model of Huntington Disease Shows Specific Deficits in a Test Battery of Motor Function.

    Science.gov (United States)

    Manfré, Giuseppe; Clemensson, Erik K H; Kyriakou, Elisavet I; Clemensson, Laura E; van der Harst, Johanneke E; Homberg, Judith R; Nguyen, Huu Phuc

    2017-01-01

    Rationale : Huntington disease (HD) is a progressive neurodegenerative disorder characterized by motor, cognitive and neuropsychiatric symptoms. HD is usually diagnosed by the appearance of motor deficits, resulting in skilled hand use disruption, gait abnormality, muscle wasting and choreatic movements. The BACHD transgenic rat model for HD represents a well-established transgenic rodent model of HD, offering the prospect of an in-depth characterization of the motor phenotype. Objective : The present study aims to characterize different aspects of motor function in BACHD rats, combining classical paradigms with novel high-throughput behavioral phenotyping. Methods : Wild-type (WT) and transgenic animals were tested longitudinally from 2 to 12 months of age. To measure fine motor control, rats were challenged with the pasta handling test and the pellet reaching test. To evaluate gross motor function, animals were assessed by using the holding bar and the grip strength tests. Spontaneous locomotor activity and circadian rhythmicity were assessed in an automated home-cage environment, namely the PhenoTyper. We then integrated existing classical methodologies to test motor function with automated home-cage assessment of motor performance. Results : BACHD rats showed strong impairment in muscle endurance at 2 months of age. Altered circadian rhythmicity and locomotor activity were observed in transgenic animals. On the other hand, reaching behavior, forepaw dexterity and muscle strength were unaffected. Conclusions : The BACHD rat model exhibits certain features of HD patients, like muscle weakness and changes in circadian behavior. We have observed modest but clear-cut deficits in distinct motor phenotypes, thus confirming the validity of this transgenic rat model for treatment and drug discovery purposes.

  17. Akinetic-rigid and tremor-dominant Parkinson's disease patients show different patterns of intrinsic brain activity.

    Science.gov (United States)

    Zhang, Jiuquan; Wei, Luqing; Hu, Xiaofei; Xie, Bing; Zhang, Yanling; Wu, Guo-Rong; Wang, Jian

    2015-01-01

    Parkinson's disease (PD) is a surprisingly heterogeneous neurodegenerative disorder. It is well established that different subtypes of PD present with different clinical courses and prognoses. However, the neural mechanism underlying these disparate presentations is uncertain. Here we used resting-state fMRI (rs-fMRI) and the regional homogeneity (ReHo) method to determine neural activity patterns in the two main clinical subgroups of PD (akinetic-rigid and tremor-dominant). Compared with healthy controls, akinetic-rigid (AR) subjects had increased ReHo mainly in right amygdala, left putamen, bilateral angular gyrus, bilateral medial prefrontal cortex (MPFC), and decreased ReHo in left post cingulate gyrus/precuneus (PCC/PCu) and bilateral thalamus. In contrast, tremor-dominant (TD) patients showed higher ReHo mostly in bilateral angular gyrus, left PCC, cerebellum_crus1, and cerebellum_6, while ReHo was decreased in right putamen, primary sensory cortex (S1), vermis_3, and cerebellum_4_5. These results indicate that AR and TD subgroups both represent altered spontaneous neural activity in default-mode regions and striatum, and AR subjects exhibit more changed neural activity in the mesolimbic cortex (amygdala) but TD in the cerebellar regions. Of note, direct comparison of the two subgroups revealed a distinct ReHo pattern primarily located in the striatal-thalamo-cortical (STC) and cerebello-thalamo-cortical (CTC) loops. Overall, our findings highlight the involvement of default mode network (DMN) and STC circuit both in AR and TD subtypes, but also underscore the importance of integrating mesolimbic-striatal and CTC loops in understanding neural systems of akinesia and rigidity, as well as resting tremor in PD. This study provides improved understanding of the pathophysiological models of different subtypes of PD. Copyright © 2014 Elsevier Ltd. All rights reserved.

  18. Left Ventricular Geometry and Blood Pressure as Predictors of Adverse Progression of Fabry Cardiomyopathy.

    Science.gov (United States)

    Krämer, Johannes; Bijnens, Bart; Störk, Stefan; Ritter, Christian O; Liu, Dan; Ertl, Georg; Wanner, Christoph; Weidemann, Frank

    2015-01-01

    In spite of several research studies help to describe the heart in Fabry disease (FD), the cardiomyopathy is not entirely understood. In addition, the impact of blood pressure and alterations in geometry have not been systematically evaluated. In 74 FD patients (mean age 36±12 years; 45 females) the extent of myocardial fibrosis and its progression were quantified using cardiac magnetic-resonance-imaging with late enhancement technique (LE). Results were compared to standard echocardiography complemented by 2D-speckle-tracking, 3D-sphericity-index (SI) and standardized blood pressure measurement. At baseline, no patient received enzyme replacement therapy (ERT). After 51±24 months, a follow-up examination was performed. Systolic blood pressure (SBP) was higher in patients with vs. without LE: 123±17 mmHg vs. 115±13 mmHg; P = 0.04. A positive correlation was found between SI and the amount of LE-positive myocardium (r = 0.51; PAUC = 0.785; P<0.05). LV geometry as assessed by the sphericity index is altered in relation to the stage of the Fabry cardiomyopathy. Although patients with FD are not hypertensive, the SBP has a clear impact on the progression of the cardiomyopathy.

  19. A Fabry-Pérot electro-optic sensing system using a drive-current-tuned wavelength laser diode.

    Science.gov (United States)

    Kuo, Wen-Kai; Wu, Pei-Yu; Lee, Chang-Ching

    2010-05-01

    A Fabry-Pérot enhanced electro-optic sensing system that utilizes a drive-current-tuned wavelength laser diode is presented. An electro-optic prober made of LiNbO(3) crystal with an asymmetric Fabry-Pérot cavity is used in this system. To lock the wavelength of the laser diode at resonant condition, a closed-loop power control scheme is proposed. Experiment results show that the system can keep the electro-optic prober at high sensitivity for a long working time when the closed-loop control function is on. If this function is off, the sensitivity may be fluctuated and only one-third of the best level in the worst case.

  20. Ablative doses of radioiodine show a high efficacy and safety in the treatment of hyperthyroidism caused by Graves diseases

    International Nuclear Information System (INIS)

    Juri, A.; Pitoia, Fabian; Lopaczek, N.; Mana, D.; Niepomniscze, Hugo; El Tamer, Elias A.

    2006-01-01

    The objective of this work is to compare the frequency of healing and persistence/relapse of hyperthyroidism using two protocols of different 131 I doses in patients with Graves diseases, and to evaluate the presence of adverse effects observed in the patients after each of the protocols. (author) [es

  1. Genomic analyses of the Chlamydia trachomatis core genome show an association between chromosomal genome, plasmid type and disease

    NARCIS (Netherlands)

    Versteeg, Bart; Bruisten, Sylvia M.; Pannekoek, Yvonne; Jolley, Keith A.; Maiden, Martin C. J.; van der Ende, Arie; Harrison, Odile B.

    2018-01-01

    Background: Chlamydia trachomatis (Ct) plasmid has been shown to encode genes essential for infection. We evaluated the population structure of Ct using whole-genome sequence data (WGS). In particular, the relationship between the Ct genome, plasmid and disease was investigated. Results: WGS data

  2. In situ hybridization of nucleus basalis neurons shows increased β-amyloid mRNA in Alzheimer disease

    International Nuclear Information System (INIS)

    Cohen, M.L.; Golde, T.E.; Usiak, M.F.; Younkin, L.H.; Younkin, S.G.

    1988-01-01

    To determine which cells within the brain produce β-amyloid mRNA and to assess expression of the β-amyloid gene in Alzheimer disease, the authors analyzed brain tissue from Alzheimer and control patients by in situ hybridization. The results demonstrate that β-amyloid mRNA is produced by neurons in the nucleus basalis of Meynert and cerebral cortex and that nuclues basalis perikarya from Alzheimer patients consistently hybridize more β-amyloid probe than those from controls. These observations support the hypothesis that increased expression of the β-amyloid gene plays an important role in the deposition of amyloid in the brains of patients with Alzheimer disease

  3. Voltage adjusting characteristics in terahertz transmission through Fabry-Pérot-based metamaterials

    Directory of Open Access Journals (Sweden)

    Jun Luo

    2015-10-01

    Full Text Available Metallic electric split-ring resonators (SRRs with featured size in micrometer scale, which are connected by thin metal wires, are patterned to form a periodically distributed planar array. The arrayed metallic SRRs are fabricated on an n-doped gallium arsenide (n-GaAs layer grown directly over a semi-insulating gallium arsenide (SI-GaAs wafer. The patterned metal microstructures and n-GaAs layer construct a Schottky diode, which can support an external voltage applied to modify the device properties. The developed architectures present typical functional metamaterial characters, and thus is proposed to reveal voltage adjusting characteristics in the transmission of terahertz waves at normal incidence. We also demonstrate the terahertz transmission characteristics of the voltage controlled Fabry-Pérot-based metamaterial device, which is composed of arrayed metallic SRRs. To date, many metamaterials developed in earlier works have been used to regulate the transmission amplitude or phase at specific frequencies in terahertz wavelength range, which are mainly dominated by the inductance-capacitance (LC resonance mechanism. However, in our work, the external voltage controlled metamaterial device is developed, and the extraordinary transmission regulation characteristics based on both the Fabry-Pérot (FP resonance and relatively weak surface plasmon polariton (SPP resonance in 0.025-1.5 THz range, are presented. Our research therefore shows a potential application of the dual-mode-resonance-based metamaterial for improving terahertz transmission regulation.

  4. Optimal Design of an Hourglass in-Fiber Air Fabry-Perot Microcavity—Towards Spectral Characteristics and Strain Sensing Technology

    Directory of Open Access Journals (Sweden)

    Qi Wang

    2017-06-01

    Full Text Available An hourglass in-fiber air microcavity Fabry-Perot interferometer is proposed in this paper, and its second reflecting surface of in-fiber microcavity is designed to be a concave reflector with the best curvature radius in order to improve the spectral characteristics. Experimental results proved that the extinction ratio of Fabry-Perot interferometer with cavity length of 60 μm and concave reflector radius of 60 μm is higher than for a rectangular Fabry-Perot interferometer with cavity length of 60 μm (14 dB: 11 dB. Theory and numerical simulation results show that the strain sensitivity of sensor can be improved by reducing the microcavity wall thickness and microcavity diameter, and when the in-fiber microcavity length is 40 μm, the microcavity wall thickness is 10 μm, the microcavity diameter is 20 μm, and the curvature radius of reflective surface II is 50 μm, the interference fringe contrast of is greater than 0.97, an Axial-pull sensitivity of 20.46 nm/N and resolution of 1 mN can be achieved in the range of 0–1 N axial tension. The results show that the performance of hourglass in-fiber microcavity interferometer is far superior to that of the traditional Fabry-Perot interferometer.

  5. School and Community Screening Shows Malawi, Africa, to Have a High Prevalence of Latent Rheumatic Heart Disease.

    Science.gov (United States)

    Sims Sanyahumbi, Amy; Sable, Craig A; Beaton, Andrea; Chimalizeni, Yamikani; Guffey, Danielle; Hosseinipour, Mina; Karlsten, Melissa; Kazembe, Peter N; Kennedy, Neil; Minard, Charles G; Penny, Daniel J

    2016-12-01

    Rheumatic heart disease (RHD) is the largest cardiac cause of morbidity and mortality in the world's youth. Early detection of RHD through echocardiographic screening in asymptomatic children may identify an early stage of disease, when secondary prophylaxis has the greatest chance of stopping disease progression. Latent RHD signifies echocardiographic evidence of RHD with no known history of acute rheumatic fever and no clinical symptoms. Determine the prevalence of latent RHD among children ages 5-16 in Lilongwe, Malawi. This is a cross-sectional study in which children ages 5 through 16 were screened for RHD using echocardiography. Screening was conducted in 3 schools and surrounding communities in the Lilongwe district of Malawi between February and April 2014. Children were diagnosed as having no, borderline, or definite RHD as defined by World Heart Federation criteria. The primary reader completed offline reads of all studies. A second reader reviewed all of the studies diagnosed as RHD, plus a selection of normal studies. A third reader served as tiebreaker for discordant diagnoses. The distribution of results was compared between gender, location, and age categories using Fisher's exact test. The prevalence of latent RHD was 3.4% (95% CI = 2.45, 4.31), with 0.7% definite RHD and 2.7% borderline RHD. There was no significant differences in prevalence between gender (P = .44), site (P = .6), urban vs. peri-urban (P = .75), or age (P = .79). Of those with definite RHD, all were diagnosed because of pathologic mitral regurgitation (MR) and 2 morphologic features of the mitral valve. Of those with borderline RHD, most met the criteria by having pathological MR (92.3%). Malawi has a high rate of latent RHD, which is consistent with other results from sub-Saharan Africa. This study strongly supports the need for a RHD prevention and control program in Malawi. © 2016 Wiley Periodicals, Inc.

  6. Modulators of cytoskeletal reorganization in CA1 hippocampal neurons show increased expression in patients at mid-stage Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Patricia F Kao

    2010-10-01

    Full Text Available During the progression of Alzheimer's disease (AD, hippocampal neurons undergo cytoskeletal reorganization, resulting in degenerative as well as regenerative changes. As neurofibrillary tangles form and dystrophic neurites appear, sprouting neuronal processes with growth cones emerge. Actin and tubulin are indispensable for normal neurite development and regenerative responses to injury and neurodegenerative stimuli. We have previously shown that actin capping protein beta2 subunit, Capzb2, binds tubulin and, in the presence of tau, affects microtubule polymerization necessary for neurite outgrowth and normal growth cone morphology. Accordingly, Capzb2 silencing in hippocampal neurons resulted in short, dystrophic neurites, seen in neurodegenerative diseases including AD. Here we demonstrate the statistically significant increase in the Capzb2 expression in the postmortem hippocampi in persons at mid-stage, Braak and Braak stage (BB III-IV, non-familial AD in comparison to controls. The dynamics of Capzb2 expression in progressive AD stages cannot be attributed to reactive astrocytosis. Moreover, the increased expression of Capzb2 mRNA in CA1 pyramidal neurons in AD BB III-IV is accompanied by an increased mRNA expression of brain derived neurotrophic factor (BDNF receptor tyrosine kinase B (TrkB, mediator of synaptic plasticity in hippocampal neurons. Thus, the up-regulation of Capzb2 and TrkB may reflect cytoskeletal reorganization and/or regenerative response occurring in hippocampal CA1 neurons at a specific stage of AD progression.

  7. Algebraic connectivity of brain networks shows patterns of segregation leading to reduced network robustness in Alzheimer's disease

    Science.gov (United States)

    Daianu, Madelaine; Jahanshad, Neda; Nir, Talia M.; Leonardo, Cassandra D.; Jack, Clifford R.; Weiner, Michael W.; Bernstein, Matthew A.; Thompson, Paul M.

    2015-01-01

    Measures of network topology and connectivity aid the understanding of network breakdown as the brain degenerates in Alzheimer's disease (AD). We analyzed 3-Tesla diffusion-weighted images from 202 patients scanned by the Alzheimer's Disease Neuroimaging Initiative – 50 healthy controls, 72 with early- and 38 with late-stage mild cognitive impairment (eMCI/lMCI) and 42 with AD. Using whole-brain tractography, we reconstructed structural connectivity networks representing connections between pairs of cortical regions. We examined, for the first time in this context, the network's Laplacian matrix and its Fiedler value, describing the network's algebraic connectivity, and the Fiedler vector, used to partition a graph. We assessed algebraic connectivity and four additional supporting metrics, revealing a decrease in network robustness and increasing disarray among nodes as dementia progressed. Network components became more disconnected and segregated, and their modularity increased. These measures are sensitive to diagnostic group differences, and may help understand the complex changes in AD. PMID:26640830

  8. Cognition and gait show a selective pattern of association dominated by phenotype in incident Parkinson’s disease

    Directory of Open Access Journals (Sweden)

    Sue eLord

    2014-10-01

    Full Text Available Reports outlining the association between gait and cognition in Parkinson’s disease (PD are limited because of methodological issues and a bias towards studying advanced disease. This study examines the association between gait and cognition in 121 early PD who were characterized according to motor phenotype, and 184 healthy older adults. Quantitative gait was captured using a 7m GAITrite walkway whilst walking for two minutes under single task conditions and described by five domains (pace, rhythm, variability, asymmetry and postural control. Cognitive outcomes were summarized by six domains (attention, working memory, visual memory, executive function, visuospatial function and global cognition. Partial correlations and multivariate linear regression were used to determine independent associations for all participants and for PD tremor-dominant (TD and postural instability and gait disorder (PIGD phenotypes, controlling for age, sex, and premorbid intelligence using the National Adult Reading Test (NART. Cognitive and gait outcomes were significantly worse for PD. Gait, but not cognitive outcomes, were selectively worse for the PIGD phenotype. Significant associations emerged for two gait domains for controls (pace and postural control and four gait domains for PD (pace, rhythm, variability, and postural control.The strongest correlation was for pace and attention for PD and controls. Associations were not significant for participants with the TD phenotype. In early PD the cognitive correlates of gait are predominantly with fronto-executive functions, and are determined by the PIGD PD phenotype. These associations provide a basis for understanding the complex role of cognition in Parkinsonian gait.

  9. A tetranucleotide repeat (D4S1652) is linked to facioscapulohumeral dystrophy and shows no linkage disequilibrium with the disease

    Energy Technology Data Exchange (ETDEWEB)

    Mathews, K.D.; Bailey, H.L.; Mills, K.A. [and others

    1994-09-01

    Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant dystrophy which is associated with a deletion in a subtelomeric repeat element on 4q35. The gene has not yet been identified. The probe detecting this deletion (D4F104S1) is not chromosome 4-specific, and at least one large family has been identified which is not linked to chromosome 4. Thus, persymptomatic/prenatal diagnosis can only be provided to families that are proven to be chromosome 4-linked or where a new mutation is demonstrated. The markers available to demonstrate linkage to chromosome 4, D4S139, D4S163, and D4F35S1, are VNTRs. We have used D4S1652, a tetranucleotide repeat recently identified by the Cooperative Human Linkage Center, in our FSHD families. We found it is completely linked to the 4q35 VNTRs and to the disease phenotype. Physical mapping, using radiation hybrids and somatic cell hybrids, places D4S1652 between D4S139, an interval of approximately 1 Mb. We have used D4S1652 to look for linkage disequilibrium in our FSHD patient population. This result is of interest because of our hypothesis that the deletion in the subtelomeric repeat element alters transcription of a more proximal gene through a position effect. Previously available markers have been unsatisfactory for this experiment because of difficulty comparing numerous VNTR alleles across families. We observed 4, easily distinguished, D4S1652 alleles in our families. We studied 14 chromosomes associated with disease phenotype and 55 chromosomes from nontransmitting parents. We found no evidence for linkage disequilibrium ({chi}{sup 2}=1.313, nonsignificant). This result will need confirmation with a larger patient population, but is consistent with the clinical observation that there is a high rate of a new mutation in this disorder.

  10. Fabry's Disease: Case Series and Review of Literature

    African Journals Online (AJOL)

    Subsequent enzymatic and pedigree analysis confirmed the diagnosis of FD in the recipient and one of his brothers with the possibility of their mother ... enzyme levels and are being planned for treatment with enzyme replacement therapy ...

  11. Ophthalmic experience over 10 years in an observational nationwide Danish cohort of Fabry patients with access to enzyme replacement

    DEFF Research Database (Denmark)

    Fledelius, Hans C.; Sandfeld, Lisbeth; Rasmussen, Åse Krogh

    2015-01-01

    , respectively, and phlebopathy in 22, although generally without evidence of loss of vessel wall integrity. Systemic vascular lesions with or without loss of function were recorded for kidney (n = 23), heart (n = 17) and brain (n = 7), and an association was suggested between nephropathy and abnormal morphology...... parameters in 37. Compared to other Fabry series, two of 39 patients with serious unilateral occlusive retinal disease may appear a high number. The presence of retinal tortuosity is discussed, possibly reflecting haemodynamic events related to vessel wall deposits, but could also be 'constitutional...

  12. Whole Genome Sequencing Shows a Low Proportion of Tuberculosis Disease Is Attributable to Known Close Contacts in Rural Malawi.

    Directory of Open Access Journals (Sweden)

    Judith R Glynn

    Full Text Available The proportion of tuberculosis attributable to transmission from close contacts is not well known. Comparison of the genome of strains from index patients and prior contacts allows transmission to be confirmed or excluded.In Karonga District, Malawi, all tuberculosis patients are asked about prior contact with others with tuberculosis. All available strains from culture-positive patients were sequenced. Up to 10 single nucleotide polymorphisms between index patients and their prior contacts were allowed for confirmation, and ≥ 100 for exclusion. The population attributable fraction was estimated from the proportion of confirmed transmissions and the proportion of patients with contacts.From 1997-2010 there were 1907 new culture-confirmed tuberculosis patients, of whom 32% reported at least one family contact and an additional 11% had at least one other contact; 60% of contacts had smear-positive disease. Among case-contact pairs with sequences available, transmission was confirmed from 38% (62/163 smear-positive prior contacts and 0/17 smear-negative prior contacts. Confirmed transmission was more common in those related to the prior contact (42.4%, 56/132 than in non-relatives (19.4%, 6/31, p = 0.02, and in those with more intense contact, to younger index cases, and in more recent years. The proportion of tuberculosis attributable to known contacts was estimated to be 9.4% overall.In this population known contacts only explained a small proportion of tuberculosis cases. Even those with a prior family contact with smear positive tuberculosis were more likely to have acquired their infection elsewhere.

  13. Non-Eosinophilic Nasal Polyps Shows Increased Epithelial Proliferation and Localized Disease Pattern in the Early Stage.

    Directory of Open Access Journals (Sweden)

    Dong-Kyu Kim

    Full Text Available Non-eosinophilic nasal polyps (NPs show less inflammatory changes and are less commonly associated with lower airway inflammatory disorders such as asthma, compared with eosinophilic NPs. However, the development of non-eosinophilic NPs which is a predominant subtype in Asian population still remains unclear.A total of 81 patients (45 with non-eosinophilic NPs and 36 with eosinophilic NPs were enrolled. Clinical information and computed tomography (CT, endoscopic, and histological findings were investigated. Tissue samples were analyzed for total IgE levels and for mRNA expression levels of interleukin (IL-4, IL-5, IL-13, interferon (IFN-γ, tumor necrosis factor (TNF-α, IL-17A, IL-22, IL-23p19, transforming growth factor (TGF-β1, TGF-β2, TGF-β3, and periostin. Immunostaining assessment of Ki-67 as a proliferation marker was performed.We found that epithelial in-growing patterns such as pseudocysts were more frequently observed in histological and endoscopic evaluations of non-eosinophilic NPs, which was linked to increase epithelial staining of Ki-67, a proliferating marker. Eosinophilic NPs were characterized by high infiltration of inflammatory cells, compared with non-eosinophilic NPs. To investigate the developmental course of each subtype, CT was analyzed according to CT scores and subtypes. Non-eosinophilic NPs showed more localized pattern and maxillary sinus involvement, but lesser olfactory involvement in early stage whereas eosinophilic NPs were characterized by diffuse ethmoidal and olfactory involvement. In addition, high ethmoidal/maxillary (E/M CT scores, indicating ethmoidal dominant involvement, were one of surrogate markers for eosinophilic NP. E/M CT scores was positively correlated with levels of TH2 inflammatory markers, including IL-4, IL-5, periostin mRNA expression and total IgE levels in NPs, whereas levels of the TH1 cytokine, IFN- γ were inversely correlated. Moreover, if the combinatorial algorithm meet the three

  14. A Fabry-Perot interferometer system for high-speed velocity measurement

    NARCIS (Netherlands)

    Cheng, L.K.; Bruinsma, A.J.A.; Prinse, W.C.; Smorenburg, C.

    1997-01-01

    The Fabry-Perot Velocity Interferometer System (F-PVIS) is designed and built for measuring the Doppler shift of light by recording positional changes in the interferometric pattern behind the Fabry-Perot interferometer. The velocity of a surface can be deduced from the Doppler shift which is caused

  15. Fabry-Pérot cavity based on chirped sampled fiber Bragg gratings.

    Science.gov (United States)

    Zheng, Jilin; Wang, Rong; Pu, Tao; Lu, Lin; Fang, Tao; Li, Weichun; Xiong, Jintian; Chen, Yingfang; Zhu, Huatao; Chen, Dalei; Chen, Xiangfei

    2014-02-10

    A novel kind of Fabry-Pérot (FP) structure based on chirped sampled fiber Bragg grating (CSFBG) is proposed and demonstrated. In this structure, the regular chirped FBG (CFBG) that functions as reflecting mirror in the FP cavity is replaced by CSFBG, which is realized by chirping the sampling periods of a sampled FBG having uniform local grating period. The realization of such CSFBG-FPs having diverse properties just needs a single uniform pitch phase mask and sub-micrometer precision moving stage. Compared with the conventional CFBG-FP, it becomes more flexible to design CSFBG-FPs of diverse functions, and the fabrication process gets simpler. As a demonstration, based on the same experimental facilities, FPs with uniform FSR (~73 pm) and chirped FSR (varying from 28 pm to 405 pm) are fabricated respectively, which shows good agreement with simulation results.

  16. Effects of the time delays in a non linear pendular Fabry-Perot

    International Nuclear Information System (INIS)

    Tourrenc, P.; Deruelle, N.

    1985-01-01

    We study a one arm pendular Fabry-Perot interferometer with specifications corresponding to the two arms interferometers designed to detect gravitational radiation. We consider the non linearities originating from the radiation force and the effects of time delays due to the finite length of the arm. We derive the exact and the associated ''predictivised'' equations for the motion of the suspended mirror. We show that effects of time delays increase considerably the stability of the device when the optical relaxation time is of the order of the period of the pendulum, a case of relevance when light is recycled. However the thermal noise does not seem to be much modified when calculated within a simple approximation scheme

  17. Xyloketal-derived small molecules show protective effect by decreasing mutant Huntingtin protein aggregates in Caenorhabditis elegans model of Huntington’s disease

    Directory of Open Access Journals (Sweden)

    Zeng YX

    2016-04-01

    Full Text Available Yixuan Zeng,1,2,* Wenyuan Guo,1,* Guangqing Xu,3 Qinmei Wang,4 Luyang Feng,1,2 Simei Long,1 Fengyin Liang,1 Yi Huang,1 Xilin Lu,1 Shichang Li,5 Jiebin Zhou,5 Jean-Marc Burgunder,6 Jiyan Pang,5 Zhong Pei1,2 1Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, Guangdong Key Laboratory for Diagnosis and Treatment of Major Neurological Disease, The First Affiliated Hospital, Sun Yat-sen University, 2Guangzhou Center, Chinese Huntington’s Disease Network, 3Department of Rehabilitation, The First Affiliated Hospital, 4Key laboratory on Assisted Circulation, Ministry of Health, Department of Cardiovascular Medicine of the First Affiliated Hospital, 5School of Chemistry and Chemical Engineering, Sun Yat-sen University, Guangzhou, Guangdong, People’s Republic of China; 6Swiss Huntington’s Disease Center, Department of Neurology, University of Bern, Bern, Switzerland *These authors contributed equally to this work Abstract: Huntington’s disease is an autosomal-dominant neurodegenerative disorder, with chorea as the most prominent manifestation. The disease is caused by abnormal expansion of CAG codon repeats in the IT15 gene, which leads to the expression of a glutamine-rich protein named mutant Huntingtin (Htt. Because of its devastating disease burden and lack of valid treatment, development of more effective therapeutics for Huntington’s disease is urgently required. Xyloketal B, a natural product from mangrove fungus, has shown protective effects against toxicity in other neurodegenerative disease models such as Parkinson’s and Alzheimer’s diseases. To identify potential neuroprotective molecules for Huntington’s disease, six derivatives of xyloketal B were screened in a Caenorhabditis elegans Huntington’s disease model; all six compounds showed a protective effect. Molecular docking studies indicated that compound 1 could bind to residues GLN369 and GLN393 of the mutant Htt protein, forming a

  18. Picometre displacement measurements using a differential Fabry-Perot optical interferometer and an x-ray interferometer

    Science.gov (United States)

    Çelik, Mehmet; Hamid, Ramiz; Kuetgens, Ulrich; Yacoot, Andrew

    2012-08-01

    X-ray interferometry is emerging as an important tool for dimensional nanometrology both for sub-nanometre measurement and displacement. It has been used to verify the performance of the next generation of displacement measuring optical interferometers within the European Metrology Research Programme project NANOTRACE. Within this project a more detailed set of comparison measurements between the x-ray interferometer and a dual channel Fabry-Perot optical interferometer (DFPI) have been made to demonstrate the capabilities of both instruments for picometre displacement metrology. The results show good agreement between the two instruments, although some minor differences of less than 5 pm have been observed.

  19. Dual-wavelength erbium-doped fiber laser with asymmetric fiber Bragg grating Fabry-Perot cavity

    Science.gov (United States)

    Chen, Cong; Xu, Zhi-wei; Wang, Meng; Chen, Hai-yan

    2014-11-01

    A novel dual-wavelength fiber laser with asymmetric fiber Bragg grating (FBG) Fabry-Perot (FP) cavity is proposed and experimentally demonstrated. A couple of uniform FBGs are used as the cavity mirrors, and the third FBG is used as intracavity wavelength selector by changing its operation temperature. Experimental results show that by adjusting the operation temperature of the intracavity wavelength selector, a tunable dual-wavelength laser emission can be achieved. The results demonstrate the new concept of dual-wavelength lasing with asymmetric FBG FP resonator and its technical feasibility.

  20. A Novel, Poly-Etalon, Fabry-Perot for Planetary Research

    Science.gov (United States)

    Kerr, Robert B.; Doe, Richard; Noto, John

    1997-01-01

    In an effort to develop a mechanically robust, high throughput and solid state spectrometer several liquid crystal Fabry-Perot etalons were constructed. The etalons were tested for spectral response, radiation resistance and optical transmission. The first year of this project was spent developing and understanding the properties of the liquid crystal etalons; in the second year an intensified all-sky imaging system was developed around a pair of LC etalons. The imaging system, developed jointly with SRI International represents a unique brassboard to demonstrate the use of LC etalons as tunable filters. The first set of etalons constructed in year one of this project were tested for spectral response and throughput while etalon surrogates were exposed to proton radiation simulating the exposure of an object in Low Earth Orbit (LEO). The 2" diameter etalons had a measure finesse of approximately 10 and were tunable over five orders. Liquid crystals exposed to proton irradiation showed no signs of damage. In year two two larger diameter (3") etalons were constructed with gaps of 3 and 5 microns. This pair of etalons is for use in a high resolution, all-sky spectral imager. The WATUMI imager system follows the heritage of all sky, narrow band, intensified imagers however it includes two LC Fabry-Perot etalons to provide tunability and the ability to switch wavelengths rapidly, an import consideration in auroral airglow imaging. This work also resulted in two publications and one poster presentation. The instrument will be uniquely capable, with superior throughput and speed, to measure optical airglow of multiple emission lines in harsh conditions.

  1. Micro-Mechanical Voltage Tunable Fabry-Perot Filters Formed in (111) Silicon. Degree awarded by Colorado Univ., Boulder, CO

    Science.gov (United States)

    Patterson, James D.

    1997-01-01

    The MEMS (Micro-Electro-Mechanical-Systems) technology is quickly evolving as a viable means to combine micro-mechanical and micro-optical elements on the same chip. One MEMS technology that has recently gained attention by the research community is the micro-mechanical Fabry-Perot optical filter. A MEMS based Fabry-Perot consists of a vertically integrated structure composed of two mirrors separated by an air gap. Wavelength tuning is achieved by applying a bias between the two mirrors resulting in an attractive electrostatic force which pulls the mirrors closer. In this work, we present a new micro-mechanical Fabry-Perot structure which is simple to fabricate and is integratable with low cost silicon photodetectors and transistors. The structure consists of a movable gold coated oxide cantilever for the top mirror and a stationary Au/Ni plated silicon bottom mirror. The fabrication process is single mask level, self aligned, and requires only one grown or deposited layer. Undercutting of the oxide cantilever is carried out by a combination of RIE and anisotropic KOH etching of the (111) silicon substrate. Metallization of the mirrors is provided by thermal evaporation and electroplating. The optical and electrical characteristics of the fabricated devices were studied and show promissing results. A wavelength shift of 120nm with 53V applied bias was demonstrated by one device geometry using 6.27 micrometer air gap. The finesse of the structure was 2.4. Modulation bandwidths ranging from 91KHz to greater than 920KHz were also observed. Theoretical calculations show that if mirror reflectivity, smoothness, and parallelism are improved, a finesse of 30 is attainable. The predictions also suggest that a reduction of the air gap to 1 micrometer results in an increased wavelength tuning range of 175 nm with a CMOS compatible 4.75V.

  2. Microcystin-LR detection in water by the Fabry-Pérot interferometer using an optical fibre coated with a sol-gel imprinted sensing membrane.

    Science.gov (United States)

    Queirós, Raquel B; Silva, S O; Noronha, J P; Frazão, O; Jorge, P; Aguilar, G; Marques, P V S; Sales, M G F

    2011-05-15

    Cyanobacteria deteriorate the water quality and are responsible for emerging outbreaks and epidemics causing harmful diseases in Humans and animals because of their toxins. Microcystin-LR (MCT) is one of the most relevant cyanotoxin, being the most widely studied hepatotoxin. For safety purposes, the World Health Organization recommends a maximum value of 1 μg L(-1) of MCT in drinking water. Therefore, there is a great demand for remote and real-time sensing techniques to detect and quantify MCT. In this work a Fabry-Pérot sensing probe based on an optical fibre tip coated with a MCT selective thin film is presented. The membranes were developed by imprinting MCT in a sol-gel matrix that was applied over the tip of the fibre by dip coating. The imprinting effect was obtained by curing the sol-gel membrane, prepared with (3-aminopropyl) trimethoxysilane (APTMS), diphenyl-dimethoxysilane (DPDMS), tetraethoxysilane (TEOS), in the presence of MCT. The imprinting effect was tested by preparing a similar membrane without template. In general, the fibre Fabry-Pérot with a Molecular Imprinted Polymer (MIP) sensor showed low thermal effect, thus avoiding the need of temperature control in field applications. It presented a linear response to MCT concentration within 0.3-1.4 μg L(-1) with a sensitivity of -12.4±0.7 nm L μg(-1). The corresponding Non-Imprinted Polymer (NIP) displayed linear behaviour for the same MCT concentration range, but with much less sensitivity, of -5.9±0.2 nm L μg(-1). The method shows excellent selectivity for MCT against other species co-existing with the analyte in environmental waters. It was successfully applied to the determination of MCT in contaminated samples. The main advantages of the proposed optical sensor include high sensitivity and specificity, low-cost, robustness, easy preparation and preservation. Copyright © 2011 Elsevier B.V. All rights reserved.

  3. The BACHD Rat Model of Huntington Disease Shows Signs of Fronto-Striatal Dysfunction in Two Operant Conditioning Tests of Short-Term Memory.

    Directory of Open Access Journals (Sweden)

    Erik Karl Håkan Clemensson

    Full Text Available The BACHD rat is a recently developed transgenic animal model of Huntington disease, a progressive neurodegenerative disorder characterized by extensive loss of striatal neurons. Cognitive impairments are common among patients, and characterization of similar deficits in animal models of the disease is therefore of interest. The present study assessed the BACHD rats' performance in the delayed alternation and the delayed non-matching to position test, two Skinner box-based tests of short-term memory function. The transgenic rats showed impaired performance in both tests, indicating general problems with handling basic aspects of the tests, while short-term memory appeared to be intact. Similar phenotypes have been found in rats with fronto-striatal lesions, suggesting that Huntington disease-related neuropathology might be present in the BACHD rats. Further analyses indicated that the performance deficit in the delayed alternation test might be due to impaired inhibitory control, which has also been implicated in Huntington disease patients. The study ultimately suggests that the BACHD rats might suffer from neuropathology and cognitive impairments reminiscent of those of Huntington disease patients.

  4. The BACHD Rat Model of Huntington Disease Shows Signs of Fronto-Striatal Dysfunction in Two Operant Conditioning Tests of Short-Term Memory.

    Science.gov (United States)

    Clemensson, Erik Karl Håkan; Clemensson, Laura Emily; Riess, Olaf; Nguyen, Huu Phuc

    2017-01-01

    The BACHD rat is a recently developed transgenic animal model of Huntington disease, a progressive neurodegenerative disorder characterized by extensive loss of striatal neurons. Cognitive impairments are common among patients, and characterization of similar deficits in animal models of the disease is therefore of interest. The present study assessed the BACHD rats' performance in the delayed alternation and the delayed non-matching to position test, two Skinner box-based tests of short-term memory function. The transgenic rats showed impaired performance in both tests, indicating general problems with handling basic aspects of the tests, while short-term memory appeared to be intact. Similar phenotypes have been found in rats with fronto-striatal lesions, suggesting that Huntington disease-related neuropathology might be present in the BACHD rats. Further analyses indicated that the performance deficit in the delayed alternation test might be due to impaired inhibitory control, which has also been implicated in Huntington disease patients. The study ultimately suggests that the BACHD rats might suffer from neuropathology and cognitive impairments reminiscent of those of Huntington disease patients.

  5. Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

    Directory of Open Access Journals (Sweden)

    Eurico Camargo Neto

    2018-06-01

    Full Text Available Abstract We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screening laboratory.

  6. Fabry-Perot observations of Comet Halley H2O(+)

    International Nuclear Information System (INIS)

    Scherb, F.; Roesler, F.L.D.; Harlander, J.; Magee-sauer, K.

    1990-01-01

    Fabry-Perot scanning spectrometer observations of Comet Halley's H 2 O(+) emissions have yielded 6158.64 and 6158.85 A spin doublet data at distances in the range of 0 to 2 million km from the comet heat in the antisunward direction. Cometary plasma outflow velocities were ascertained on the basis of the emissions' Doppler shifts, yielding results that were mostly but not exclusively consistent with the plasma's constant antisunward acceleration; the acceleration varied from night to night of observations over a 30-300 cm/sec range. The unusual plasma kinematics of December 14-15, 1985, and January 10, 1986, may be associated with the tail-disconnection activity observed by others. 30 refs

  7. Transversely coupled Fabry-Perot resonators with Bragg grating reflectors.

    Science.gov (United States)

    Saber, Md Ghulam; Wang, Yun; El-Fiky, Eslam; Patel, David; Shahriar, Kh Arif; Alam, Md Samiul; Jacques, Maxime; Xing, Zhenping; Xu, Luhua; Abadía, Nicolás; Plant, David V

    2018-01-01

    We design and demonstrate Fabry-Perot resonators with transverse coupling using Bragg gratings as reflectors on the silicon-on-insulator (SOI) platform. The effects of tailoring the cavity length and the coupling coefficient of the directional coupler on the spectral characteristics of the device are studied. The fabricated resonators achieved an extinction ratio (ER) of 37.28 dB and a Q-factor of 3356 with an effective cavity length of 110 μm, and an ER of 8.69 dB and a Q-factor of 23642 with a 943 μm effective cavity length. The resonator structure presented here has the highest reported ER on SOI and provides additional degrees of freedom compared to an all-pass ring resonator to tune the spectral characteristics.

  8. Fabry-Perot enhanced Faraday rotation in graphene.

    Science.gov (United States)

    Ubrig, Nicolas; Crassee, Iris; Levallois, Julien; Nedoliuk, Ievgeniia O; Fromm, Felix; Kaiser, Michl; Seyller, Thomas; Kuzmenko, Alexey B

    2013-10-21

    We demonstrate that giant Faraday rotation in graphene in the terahertz range due to the cyclotron resonance is further increased by constructive Fabry-Perot interference in the supporting substrate. Simultaneously, an enhanced total transmission is achieved, making this effect doubly advantageous for graphene-based magneto-optical applications. As an example, we present far-infrared spectra of epitaxial multilayer graphene grown on the C-face of 6H-SiC, where the interference fringes are spectrally resolved and a Faraday rotation up to 0.15 radians (9°) is attained. Further, we discuss and compare other ways to increase the Faraday rotation using the principle of an optical cavity.

  9. Calibration of Fabry-Perot interferometers for electron cyclotron emission measurements on the Tore Supra tokamak

    International Nuclear Information System (INIS)

    Javon, C.; Talvard, M.

    1990-01-01

    The electron temperature is routinely measured on TORE SUPRA using Fabry-Perot cavities. These have been calibrated using a technique involving coherent addition and Fourier analysis of a chopped black-body source. Comparison with conventional techniques is reported

  10. Fabry-Perot observations of [FeX] in the Cygnus Loop and IC443

    International Nuclear Information System (INIS)

    Ballet, J.; Rothenflug, R.; Soutoul, A.; Caplan, J.

    1988-01-01

    The authors present the first results of an observational program of SNRs in the coronal lines of [FeX] and [FeXIV] using Fabry--Perot spectrophotometer. These support previously published brightnesses

  11. Micromachined fiber optic Fabry-Perot underwater acoustic probe

    Science.gov (United States)

    Wang, Fuyin; Shao, Zhengzheng; Hu, Zhengliang; Luo, Hong; Xie, Jiehui; Hu, Yongming

    2014-08-01

    One of the most important branches in the development trend of the traditional fiber optic physical sensor is the miniaturization of sensor structure. Miniature fiber optic sensor can realize point measurement, and then to develop sensor networks to achieve quasi-distributed or distributed sensing as well as line measurement to area monitoring, which will greatly extend the application area of fiber optic sensors. The development of MEMS technology brings a light path to address the problems brought by the procedure of sensor miniaturization. Sensors manufactured by MEMS technology possess the advantages of small volume, light weight, easy fabricated and low cost. In this paper, a fiber optic extrinsic Fabry-Perot interferometric underwater acoustic probe utilizing micromachined diaphragm collaborated with fiber optic technology and MEMS technology has been designed and implemented to actualize underwater acoustic sensing. Diaphragm with central embossment, where the embossment is used to anti-hydrostatic pressure which would largely deflect the diaphragm that induce interferometric fringe fading, has been made by double-sided etching of silicon on insulator. By bonding the acoustic-sensitive diaphragm as well as a cleaved fiber end in ferrule with an outer sleeve, an extrinsic Fabry-Perot interferometer has been constructed. The sensor has been interrogated by quadrature-point control method and tested in field-stable acoustic standing wave tube. Results have been shown that the recovered signal detected by the sensor coincided well with the corresponding transmitted signal and the sensitivity response was flat in frequency range from 10 Hz to 2kHz with the value about -154.6 dB re. 1/μPa. It has been manifest that the designed sensor could be used as an underwater acoustic probe.

  12. Extensive proteomic screening identifies the obesity-related NYGGF4 protein as a novel LRP1-interactor, showing reduced expression in early Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Taddei Kevin

    2010-01-01

    Full Text Available Abstract Background The low-density lipoprotein receptor related protein 1 (LRP1 has been implicated in Alzheimer's disease (AD but its signalling has not been fully evaluated. There is good evidence that the cytoplasmic domain of LRP1 is involved in protein-protein interactions, important in the cell biology of LRP1. Results We carried out three yeast two-hybrid screens to identify proteins that interact with the cytoplasmic domain of LRP1. The screens included both conventional screens as well as a novel, split-ubiquitin-based screen in which an LRP1 construct was expressed and screened as a transmembrane protein. The split-ubiquitin screen was validated in a screen using full-length amyloid protein precursor (APP, which successfully identified FE65 and FE65L2, as well as novel interactors (Rab3a, Napg, and ubiquitin b. Using both a conventional screen as well as the split-ubiquitin screen, we identified NYGGF4 as a novel LRP1 interactor. The interaction between LRP1 and NYGGF4 was validated using two-hybrid assays, coprecipitation and colocalization in mammalian cells. Mutation analysis demonstrated a specific interaction of NYGGF4 with an NPXY motif that required an intact tyrosine residue. Interestingly, while we confirmed that other LRP1 interactors we identified, including JIP1B and EB-1, were also able to bind to APP, NYGGF4 was unique in that it showed specific binding with LRP1. Expression of NYGGF4 decreased significantly in patients with AD as compared to age-matched controls, and showed decreasing expression with AD disease progression. Examination of Nyggf4 expression in mice with different alleles of the human APOE4 gene showed significant differences in Nyggf4 expression. Conclusions These results implicate NYGGF4 as a novel and specific interactor of LRP1. Decreased expression of LRP1 and NYGGF4 over disease, evident with the presence of even moderate numbers of neuritic plaques, suggests that LRP1-NYGGF4 is a system altered

  13. Passive amplification of a fiber laser in a Fabry-Perot cavity: application to gamma-ray production by Compton backscattering

    International Nuclear Information System (INIS)

    Labaye, F.

    2012-01-01

    One of the critical points of the International Linear Collider (ILC) is the polarized positrons source. Without going through further explanation on the physical process of polarized positrons production, we point out that they are produced when circularly polarized gamma rays interact with mater. Thus, the critical point is the circularly polarized gamma-ray source. A technical solution for this source is the Compton backscattering and in the end, this thesis takes place in the framework for the design of a high average power laser systems enslaved to Fabry-Perot cavities for polarized gamma-ray production by Compton backscattering. In the first part, we present this thesis context, the Compton backscattering principle and the choice for an optical architecture based on a fiber laser and a Fabry-Perot cavity. We finish by enumerating several possible applications for Compton backscattering which shows that the work presented here might benefits from technology transfer through others research fields. In the second part, we present the different fiber laser architecture studied as well as the results obtained. In the third part, we remind the operating principle of a Fabry-Perot cavity and present the one used for our experiment as well as its specificities. In the fourth part, we address the Compton backscattering experiment which enables us to present the joint utilization of a fiber laser and a Fabry-Perot cavity in a particles accelerator to generate gamma rays for the first time to our knowledge. This experiment took place in the Accelerator Test Facility (ATF). The experimental apparatus as well as the results obtained are thus presented. In the end, we summarize the results presented in this manuscript and propose different evolution possibilities for the system in a general conclusion. (author)

  14. G2019S LRRK2 mutant fibroblasts from Parkinson’s disease patients show increased sensitivity to neurotoxin 1-methyl-4-phenylpyridinium dependent of autophagy

    International Nuclear Information System (INIS)

    Yakhine-Diop, Sokhna M.S.; Bravo-San Pedro, José M.; Gómez-Sánchez, Rubén; Pizarro-Estrella, Elisa; Rodríguez-Arribas, Mario; Climent, Vicente; Aiastui, Ana; López de Munain, Adolfo

    2014-01-01

    Parkinson’s disease (PD) is a neurodegenerative disorder of unknown etiology. It is considered as a multifactorial disease dependent on environmental and genetic factors. Deregulation in cell degradation has been related with a significant increase in cell damage, becoming a target for studies on the PD etiology. In the present study, we have characterized the parkinsonian toxin 1-methyl-4-phenylpyridinium ion (MPP + )-induced damage in fibroblasts from Parkinson’s patients with the mutation G2019S in leucine-rich repeat kinase 2 protein (LRRK2) and control individuals without this mutation. The results reveal that MPP + induces mTOR-dependent autophagy in fibroblasts. Moreover, the effects of caspase-dependent cell death to MPP + were higher in cells with the G2019S LRRK2 mutation, which showed basal levels of autophagy due to the G2019S LRRK2 mutation (mTOR-independent). The inhibition of autophagy by 3-methyladenine (3-MA) treatment reduces these sensitivity differences between both cell types, however, the inhibition of autophagosome–lysosome fusion by bafilomycin A1 (Baf A1) increases these differences. This data confirm the importance of the combination of genetic and environmental factors in the PD etiology. Thereby, the sensitivity to the same damage may be different in function of a genetic predisposition, reason why individuals with certain mutations can develop some early-onset diseases, such as individuals with G2019S LRRK2 mutation and PD

  15. A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease.

    Science.gov (United States)

    Sabblah, Thywill T; Nandini, Swaran; Ledray, Aaron P; Pasos, Julio; Calderon, Jami L Conley; Love, Rachal; King, Linda E; King, Stephen J

    2018-01-29

    Charcot-Marie-Tooth disease (CMT) is a peripheral neuromuscular disorder in which axonal degeneration causes progressive loss of motor and sensory nerve function. The loss of motor nerve function leads to distal muscle weakness and atrophy, resulting in gait problems and difficulties with walking, running, and balance. A mutation in the cytoplasmic dynein heavy chain (DHC) gene was discovered to cause an autosomal dominant form of the disease designated Charcot-Marie-Tooth type 2 O disease (CMT2O) in 2011. The mutation is a single amino acid change of histidine into arginine at amino acid 306 (H306R) in DHC. In order to understand the onset and progression of CMT2, we generated a knock-in mouse carrying the corresponding CMT2O mutation (H304R/+). We examined H304R/+ mouse cohorts in a 12-month longitudinal study of grip strength, tail suspension, and rotarod assays. H304R/+ mice displayed distal muscle weakness and loss of motor coordination phenotypes consistent with those of individuals with CMT2. Analysis of the gastrocnemius of H304R/+ male mice showed prominent defects in neuromuscular junction (NMJ) morphology including reduced size, branching, and complexity. Based on these results, the H304R/+ mouse will be an important model for uncovering functions of dynein in complex organisms, especially related to CMT onset and progression.

  16. Watt-level widely tunable single-mode emission by injection-locking of a multimode Fabry-Perot quantum cascade laser

    Science.gov (United States)

    Chevalier, Paul; Piccardo, Marco; Anand, Sajant; Mejia, Enrique A.; Wang, Yongrui; Mansuripur, Tobias S.; Xie, Feng; Lascola, Kevin; Belyanin, Alexey; Capasso, Federico

    2018-02-01

    Free-running Fabry-Perot lasers normally operate in a single-mode regime until the pumping current is increased beyond the single-mode instability threshold, above which they evolve into a multimode state. As a result of this instability, the single-mode operation of these lasers is typically constrained to few percents of their output power range, this being an undesired limitation in spectroscopy applications. In order to expand the span of single-mode operation, we use an optical injection seed generated by an external-cavity single-mode laser source to force the Fabry-Perot quantum cascade laser into a single-mode state in the high current range, where it would otherwise operate in a multimode regime. Utilizing this approach, we achieve single-mode emission at room temperature with a tuning range of 36 cm-1 and stable continuous-wave output power exceeding 1 W at 4.5 μm. Far-field measurements show that a single transverse mode is emitted up to the highest optical power, indicating that the beam properties of the seeded Fabry-Perot laser remain unchanged as compared to free-running operation.

  17. Optical filter based on Fabry-Perot structure using a suspension of goethite nanoparticles as electro-optic material

    Science.gov (United States)

    Abbas, Samir; Dupont, Laurent; Dozov, Ivan; Davidson, Patrick; Chanéac, Corinne

    2018-02-01

    We have investigated the feasibility of optical tunable filters based on a Fabry-Perot etalon that uses a suspension of goethite (α-FeOOH) nanorods as electro-optic material for application in optical telecommunications in the near IR range. These synthetic nanoparticles have a high optical anisotropy that give rise to a very strong Kerr effect in their colloidal suspensions. Currently, these particles are dispersed in aqueous solvent, with pH2 to ensure the colloidal electrostatic stability. However, the high conductivity of these suspensions requires using high-frequency electric fields (f > 1 MHz), which brings about a high power consumption of the driver. To decrease the field frequency, we have changed the solvent to ethylene glycol which has a lower electrical conductivity than the aqueous solvent. We have built a Fabry-Perot cell, filled with this colloidal suspension in the isotropic phase, and showed that a phase shift of 14 nm can be obtained in a field of 3V/μm. Therefore, the device can operate as a tunable filter. A key advantage of this filter is that it is, by principle, completely insensitive to the polarization of the input light. However, several technological issues still need to be solved, such as ionic contamination of the suspension from the blocking layers, and dielectrophoretic and thermal effects.

  18. Patent Foramen Ovale and Cryptogenic Strokes in the Stroke in Young Fabry Patients Study.

    Science.gov (United States)

    Huber, Roman; Grittner, Ulrike; Weidemann, Frank; Thijs, Vincent; Tanislav, Christian; Enzinger, Christian; Fazekas, Franz; Wolf, Markus; Hennerici, Michael G; McCabe, Dominick J H; Putaala, Jukaa; Tatlisumak, Turgut; Kessler, Christoph; von Sarnowski, Bettina; Martus, Peter; Kolodny, Edwin; Norrving, Bo; Rolfs, Arndt

    2017-01-01

    A patent foramen ovale (PFO) is disproportionately prevalent in patients with cryptogenic stroke. Without alternative explanations, it is frequently considered to be causative. A detailed stratification of these patients may improve the identification of incidental PFO. We investigated the PFO prevalence in 3497 transient ischemic attack and ischemic stroke patients aged 18 to 55 years in the prospective multicenter SIFAP1 study (Stroke in Young Fabry Patients 1) using the ASCO classification. Patients without an obvious cause for transient ischemic attack/stroke (ASCO 0) were divided into subgroups with and without vascular risk factors (ASCO 0+ and 0-). In addition, we looked for PFO-related magnetic resonance imaging lesion patterns. PFO was identified in 25% of patients. Twenty percent of patients with a definite or probable cause of transient ischemic attack/stroke (≥1 grade 1 or 2 ASCO criterion; n=1769) had a PFO compared with 29% of cryptogenic stroke patients (ASCO 0 and 3; n=1728; Pstrokes revealed a PFO in 24% of 978 ASCO 3 patients (n.s. versus ASCO 1 and 2) and a higher prevalence of 36% in 750 ASCO 0 cases (Pstroke patients demonstrate a heterogeneous PFO prevalence. Even in case of less conclusive diseases like nonstenotic arteriosclerosis, patients should preferentially be considered to have a non-PFO-mediated stroke. URL: http://www.clinicaltrials.gov. Unique identifier: NCT00414583. © 2016 American Heart Association, Inc.

  19. Experimental Chagas disease in Balb/c mice previously vaccinated with T. rangeli. II. The innate immune response shows immunological memory: reality or fiction?

    Science.gov (United States)

    Basso, B; Marini, V

    2015-03-01

    Trypanosoma cruzi is a real challenge to the host's immune system, because it requires strong humoral and cellular immune response to remove circulating trypomastigote forms, and to prevent the replication of amastigote forms in tissues, involving many regulator and effector components. This protozoan is responsible for Chagas disease, a major public health problem in Latinamerica. We have developed a model of vaccination with Trypanosoma rangeli, a parasite closely related to T. cruzi, but nonpathogenic to humans, which reduces the infectiousness in three different species of animals, mice, dogs and guinea pigs, against challenge with T. cruzi. In a previous work, we demonstrated that mice vaccinated with T. rangeli showed important soluble mediators that stimulate phagocytic activity versus only infected groups. The aim of this work was to study the innate immune response in mice vaccinated or not with T. rangeli. Different population cells and some soluble mediators (cytokines) in peritoneal fluid and plasma in mice vaccinated-infected and only infected with T. cruzi were studied. In the first hours of challenge vaccinated mice showed an increase of macrophages, NK, granulocytes, and regulation of IL6, IFNγ, TNFα and IL10, with an increase of IL12, with respect to only infected mice. Furthermore an increase was observed of Li T, Li B responsible for adaptative response. Finally the findings showed that the innate immune response plays an important role in vaccinated mice for the early elimination of the parasites, complementary with the adaptative immune response, suggesting that vaccination with T. rangeli modulates the innate response, which develops some kind of immunological memory, recognizing shared antigens with T. cruzi. These results could contribute to the knowledge of new mechanisms which would have an important role in the immune response to Chagas disease. Copyright © 2014 Elsevier GmbH. All rights reserved.

  20. A pseudotype baculovirus expressing the capsid protein of foot-and-mouth disease virus and a T-Cell immunogen shows enhanced immunogenicity in mice

    Directory of Open Access Journals (Sweden)

    Liu Xiangtao

    2011-02-01

    Full Text Available Abstract Background Foot-and-mouth disease (FMD is a highly contagious disease of livestock which causes severe economic loss in cloven-hoofed animals. Vaccination is still a major strategy in developing countries to control FMD. Currently, inactivated vaccine of FMDV has been used in many countries with limited success and safety concerns. Development of a novel effective vaccine is must. Methods In the present study, two recombinant pseudotype baculoviruses, one expressing the capsid of foot-and-mouth disease virus (FMDV under the control of a cytomegalovirus immediate early enhancer/promoter (CMV-IE, and the other the caspid plus a T-cell immunogen coding region under a CAG promoter were constructed, and their expression was characterized in mammalian cells. In addition, their immunogenicity in a mouse model was investigated. The humoral and cell-mediated immune responses induced by pseudotype baculovirus were compared with those of inactivated vaccine. Results Indirect immunofluorescence assay (IFA and indirect sandwich-ELISA (IS-ELISA showed both recombinant baculoviruses (with or without T-cell epitopes were transduced efficiently and expressed target proteins in BHK-21 cells. In mice, intramuscular inoculation of recombinants with 1 × 109 or 1 × 1010 PFU/mouse induced the production of FMDV-specific neutralizing antibodies and gamma interferon (IFN-γ. Furthermore, recombinant baculovirus with T-cell epitopes had better immunogenicity than the recombinant without T-cell epitopes as demonstrated by significantly enhanced IFN-γ production (P P Conclusions These results indicate that pseudotype baculovirus-mediated gene delivery could be a alternative strategy to develop a new generation of vaccines against FMDV infection.

  1. 99mTc-bicisate reliably images CBF in chronic brain diseases but fails to show reflow hyperemia in subacute stroke

    DEFF Research Database (Denmark)

    Lassen, N A; Sperling, B

    1994-01-01

    of 115 cases were collected, and of these 105 were considered technically adequate, comprising 18 normal subjects, 18 senile dementia, eight epilepsy, one brain tumor, eight chronic head trauma, and 52 stroke cases. As expected, bicisate gave better spatial resolution than Xe. Agreement between...... the results of the two methods was noted in 98 cases, but not in the remaining 7, all belonging to the stroke group. These seven all suffered from a subacute stroke (11-23 days after onset), and the disagreement in all cases consisted of bicisate showing low count rate in the area of the infarct and Xe...... a normal or elevated flow (luxury perfusion) as sign of spontaneous thrombolysis with reperfusion; in fact, these seven cases comprised all the reperfusion cases in the series. The results validate bicisate as a tracer of CBF in normal humans and in chronic brain diseases. Only in a subgroup of subacute...

  2. Molecular Evidence for Occurrence of Tomato leaf curl New Delhi virus in Ash Gourd (Benincasa hispida) Germplasm Showing a Severe Yellow Stunt Disease in India.

    Science.gov (United States)

    Roy, Anirban; Spoorthi, P; Panwar, G; Bag, Manas Kumar; Prasad, T V; Kumar, Gunjeet; Gangopadhyay, K K; Dutta, M

    2013-06-01

    An evaluation of 70 accessions of ash gourd germplasm grown at National Bureau of Plant Genetic Resources, New Delhi, India during Kharif season (2010) showed natural occurrence of a yellow stunt disease in three accessions (IC554690, IC036330 and Pusa Ujjwal). A set of begomovirus specific primers used in PCR gave expected amplicon from all the symptomatic plants; however no betasatellite was detected. Complete genome of the begomovirus (DNA-A and DNA-B), amplified through rolling circle amplification, was cloned and sequenced. The begomovirus under study shared high sequence identities to different isolates of Tomato leaf curl New Delhi virus (ToLCNDV) and clustered with them. Among those isolates, the DNA-A and DNA-B of the present begomovirus isolate showed highest 99.6 and 96.8 % sequence identities, respectively with an isolate reported on pumpkin from India (DNA-A: AM286433, DNA-B: AM286435). Based on the sequence analysis, the begomovirus obtained from ash gourd was considered as an isolate of ToLCNDV. Thus, the present findings constitute the first report of occurrence of a new yellow stunt disease in ash gourd from India and demonstrated the association of ToLCNDV with the symptomatic samples. Occurrence of ToLCNDV in ash gourd germplasm not only adds up a new cucurbitaceous host of this virus but also raises the concern about the perpetuation of this virus in absence of its main host tomato and thus has an epidemiological relevance for understanding the rapid spread of this virus in tomato and other hosts in Indian sub-continent.

  3. Fabry-Perot measurements of barium temperature in fluorescent lamps

    International Nuclear Information System (INIS)

    Hadrath, S; Garner, R

    2010-01-01

    A scanning Fabry-Perot interferometer (FPI) is used to determine the temperature of barium atoms that are liberated from the electrodes of fluorescent lamps during their steady-state operation. Barium, a constituent of the work function lowering emitter material that is placed on the tungsten coil that forms the electrode, is liberated primarily by evaporation from the hot (∼1300 K) thermionic electrode. However, there may be situations or modes of operation in which barium is, in addition, sputtered, a condition which may lead to increased end-darkening, shortened life and increased mercury consumption in the lamp. Using the FPI diagnostic, the occurrence of sputtering is inferred when barium temperatures are much greater than the electrode temperature. The FPI diagnostic senses resonance radiation (λ = 553 nm) emitted by barium atoms excited in the low pressure discharge environment, and infers temperature from the Doppler broadened linewidth. The diagnostic has proven to be successful in a number of situations. Measurements have been made on rare gas discharges and on Hg-argon discharges for different discharge currents, gas pressures and auxiliary coil currents. Measurements are phase resolved for ac-driven discharges.

  4. Neutral wind measurements by Fabry-Perot interferometry in Antarctica

    International Nuclear Information System (INIS)

    Stewart, K.D.; Dudeney, J.R.; Rodger, A.S.; Smith, R.W.; Rees, D.

    1986-01-01

    A large-aperture (150 mm), spatially scanned Fabry-Perot Interferometer (FPI) has been deployed at Halley (75.5 o S, 26.8 o W; L=4.2), Antarctica. Thermospheric neutral wind measurements were made by finding the Doppler shift of the OI( 3 P 2 - 1 D 2 ) 630.0 nm emission. This has allowed the first comparison to be made between southern hemisphere ground-based thermospheric wind measurements and the predictions of a three-dimensional, time-dependent thermospheric global circulation model. Geomagnetic and geographic latitude are well separated at Halley, so we may expect a distinct contrast to the dynamic behaviour observed in the more frequently studied northern polar thermosphere. Although the initial results from the experiment are in general agreement with the model, some consistent and significant differences between the observed wind field and that predicted are evident in the morning sector. These may be related to uncertainties in mapping magnetospheric boundaries to ionospheric heights in the southern hemisphere. The intensity of the 630 nm emission has been examined with respect to the maximum plasma frequency of the Es layer using data from the Advanced Ionospheric Sounder at Halley

  5. Study on the structure of bridge surface of the micro Fabry-Perot cavity tunable filter

    International Nuclear Information System (INIS)

    Meng Qinghua; Luo Huan; Bao Shiwei; Zhou Yifan; Chen Sihai

    2011-01-01

    Micro Fabry-Perot cavity tunable filters are widely applied in the area of Pushbroom Hyperspectral imaging, DWDM optical communication system and self-adaptive optics. With small volume, lower consumption and cost, the Micro Fabry-Perot cavity tunable filter can realize superior response speed, large spectral range, high definition and high reliability. By deposition metal membrane on silicon chip by MEMS technology, the micro Fabry-Perot cavity has been achieved, which is actuated by electrostatic force and can realize the function of an optical filter. In this paper, the micro-bridge structure of the micro Fabry-Perot cavity tunable filter has been studied. Finite element analysis software COMSOL Multiphysics has been adopted to design the structure of the micro-bridge of the micro filter. In order to simulate the working mechanism of the micro Fabry-Perot cavity and study the electrical and mechanical characteristics of the micro tunable filter,the static and dynamic characteriastics are analyzed, such as stress, displacement, transient response, etc. The corresponding parameters of the structure are considered as well by optimizition the filter's sustain structure.

  6. High-resolution respirometry of fine-needle muscle biopsies in pre-manifest Huntington's disease expansion mutation carriers shows normal mitochondrial respiratory function.

    Directory of Open Access Journals (Sweden)

    Eva Buck

    Full Text Available Alterations in mitochondrial respiration are an important hallmark of Huntington's disease (HD, one of the most common monogenetic causes of neurodegeneration. The ubiquitous expression of the disease causing mutant huntingtin gene raises the prospect that mitochondrial respiratory deficits can be detected in skeletal muscle. While this tissue is readily accessible in humans, transgenic animal models offer the opportunity to cross-validate findings and allow for comparisons across organs, including the brain. The integrated respiratory chain function of the human vastus lateralis muscle was measured by high-resolution respirometry (HRR in freshly taken fine-needle biopsies from seven pre-manifest HD expansion mutation carriers and nine controls. The respiratory parameters were unaffected. For comparison skeletal muscle isolated from HD knock-in mice (HdhQ111 as well as a broader spectrum of tissues including cortex, liver and heart muscle were examined by HRR. Significant changes of mitochondrial respiration in the HdhQ knock-in mouse model were restricted to the liver and the cortex. Mitochondrial mass as quantified by mitochondrial DNA copy number and citrate synthase activity was stable in murine HD-model tissue compared to control. mRNA levels of key enzymes were determined to characterize mitochondrial metabolic pathways in HdhQ mice. We demonstrated the feasibility to perform high-resolution respirometry measurements from small human HD muscle biopsies. Furthermore, we conclude that alterations in respiratory parameters of pre-manifest human muscle biopsies are rather limited and mirrored by a similar absence of marked alterations in HdhQ skeletal muscle. In contrast, the HdhQ111 murine cortex and liver did show respiratory alterations highlighting the tissue specific nature of mutant huntingtin effects on respiration.

  7. Microbubble-based fiber-optic Fabry-Perot pressure sensor for high-temperature application.

    Science.gov (United States)

    Li, Zhe; Jia, Pinggang; Fang, Guocheng; Liang, Hao; Liang, Ting; Liu, Wenyi; Xiong, Jijun

    2018-03-10

    Using arc discharge technology, we fabricated a fiber-optic Fabry-Perot (FP) pressure sensor with a very low temperature coefficient based on a microbubble that can be applied in a high-temperature environment. The thin-walled microbubble can be fabricated by heating the gas-pressurized hollow silica tube (HST) using a commercial fusion splicer. Then, the well-cut single-mode fiber (SMF) was inserted into the microbubble, and they were fused together. Thus, the FP cavity can be formed between the end of the SMF and the inner surface of the microbubble. The diameter of the microbubble can be up to 360 μm with the thickness of the wall being approximately 0.5 μm. Experimental results show that such a sensor has a linear sensitivity of approximately -6.382  nm/MPa, -5.912  nm/MPa at 20°C, and 600°C within the pressure range of 1 MPa. Due to the thermal expansion coefficient of the SMF being slightly larger than that of silica, we can fuse the SMF and the HST with different lengths; thus, the sensor has a very low temperature coefficient of approximately 0.17 pm/°C.

  8. Highly versatile fiber-based optical Fabry-Pérot gas sensor.

    Science.gov (United States)

    Liu, Jing; Sun, Yuze; Fan, Xudong

    2009-02-16

    We develop a versatile, compact, and sensitive fiber-based optical Fabry-Pérot (FP) gas sensor. The sensor probe is composed of a silver layer and a vapor-sensitive polymer layer that are sequentially deposited on the cleaved fiber endface, thus forming an FP cavity. The interference spectrum resulting from the reflected light at the silver-polymer and polymer-air interfaces changes when the polymer is exposed to gas analytes. This structure enables using any polymer regardless of the polymer refractive index (RI), which significantly enhances the sensor versatility. In experiments, we use polyethylene glycol (PEG) 400 (RI=1.465-1.469) and Norland Optical Adhesive (NOA) 81 (RI=1.53-1.56) as the gas sensing polymer and show drastically different sensor response to hexanol, methanol, and acetone. The estimated sensitivity for methanol vapor is 3.5 pm/ppm and 0.1 pm/ppm for PEG 400 and NOA 81, respectively, with a detection limit on the order of 1-10 ppm. Gas sensing for the analytes delivered in both continuous flow mode and pulsed mode is demonstrated.

  9. Fabry-Pérot Oscillation and Room Temperature Lasing in Perovskite Cube-Corner Pyramid Cavities

    KAUST Repository

    Mi, Yang; Liu, Zhixiong; Shang, Qiuyu; Niu, Xinxiang; Shi, Jia; Zhang, Shuai; Chen, Jie; Du, Wenna; Wu, Zhiyong; Wang, Rui; Qiu, Xiaohui; Hu, Xiaoyong; Zhang, Qing; Wu, Tao; Liu, Xinfeng

    2018-01-01

    Recently, organometal halide perovskite-based optoelectronics, particularly lasers, have attracted intensive attentions because of its outstanding spectral coherence, low threshold, and wideband tunability. In this work, high-quality CH3 NH3 PbBr3 single crystals with a unique shape of cube-corner pyramids are synthesized on mica substrates using chemical vapor deposition method. These micropyramids naturally form cube-corner cavities, which are eminent candidates for small-sized resonators and retroreflectors. The as-grown perovskites show strong emission ≈530 nm in the vertical direction at room temperature. A special Fabry-Pérot (F-P) mode is employed to interpret the light confinement in the cavity. Lasing from the perovskite pyramids is observed from 80 to 200 K, with threshold ranging from ≈92 µJ cm-2 to 2.2 mJ cm-2 , yielding a characteristic temperature of T0 = 35 K. By coating a thin layer of Ag film, the threshold is reduced from ≈92 to 26 µJ cm-2 , which is accompanied by room temperature lasing with a threshold of ≈75 µJ cm-2 . This work advocates the prospect of shape-engineered perovskite crystals toward developing micro-sized optoelectronic devices and potentially investigating light-matter coupling in quantum optics.

  10. MEMS fiber-optic Fabry-Perot pressure sensor for high temperature application

    Science.gov (United States)

    Fang, G. C.; Jia, P. G.; Cao, Q.; Xiong, J. J.

    2016-10-01

    We design and demonstrate a fiber-optic Fabry-Perot pressure sensor (FOFPPS) for high-temperature sensing by employing micro-electro-mechanical system (MEMS) technology. The FOFPPS is fabricated by anodically bonding the silicon wafer and the Pyrex glass together and fixing the facet of the optical fiber in parallel with the silicon surface by glass frit and organic adhesive. The silicon wafer can be reduced through dry etching technology to construct the sensitive diaphragm. The length of the cavity changes with the deformation of the diaphragm due to the loaded pressure, which leads to a wavelength shift of the interference spectrum. The pressure can be gauged by measuring the wavelength shift. The pressure experimental results show that the sensor has linear pressure sensitivities ranging from 0 kPa to 600 kPa at temperature range between 20°C to 300°C. The pressure sensitivity at 300°C is approximately 27.63 pm/kPa. The pressure sensitivities gradually decrease with increasing the temperature. The sensor also has a linear thermal drift when temperature changes from 20°C - 300°C.

  11. Fabry-Pérot Oscillation and Room Temperature Lasing in Perovskite Cube-Corner Pyramid Cavities

    KAUST Repository

    Mi, Yang

    2018-01-10

    Recently, organometal halide perovskite-based optoelectronics, particularly lasers, have attracted intensive attentions because of its outstanding spectral coherence, low threshold, and wideband tunability. In this work, high-quality CH3 NH3 PbBr3 single crystals with a unique shape of cube-corner pyramids are synthesized on mica substrates using chemical vapor deposition method. These micropyramids naturally form cube-corner cavities, which are eminent candidates for small-sized resonators and retroreflectors. The as-grown perovskites show strong emission ≈530 nm in the vertical direction at room temperature. A special Fabry-Pérot (F-P) mode is employed to interpret the light confinement in the cavity. Lasing from the perovskite pyramids is observed from 80 to 200 K, with threshold ranging from ≈92 µJ cm-2 to 2.2 mJ cm-2 , yielding a characteristic temperature of T0 = 35 K. By coating a thin layer of Ag film, the threshold is reduced from ≈92 to 26 µJ cm-2 , which is accompanied by room temperature lasing with a threshold of ≈75 µJ cm-2 . This work advocates the prospect of shape-engineered perovskite crystals toward developing micro-sized optoelectronic devices and potentially investigating light-matter coupling in quantum optics.

  12. Use of PZT's for adaptive control of Fabry-Perot etalon plate figure

    Science.gov (United States)

    Skinner, WIlbert; Niciejewski, R.

    2005-01-01

    A Fabry Perot etalon, consisting of two spaced and reflective glass flats, provides the mechanism by which high resolution spectroscopy may be performed over narrow spectral regions. Space based applications include direct measurements of Doppler shifts of airglow absorption and emission features and the Doppler broadening of spectral lines. The technique requires a high degree of parallelism between the two flats to be maintained through harsh launch conditions. Monitoring and adjusting the plate figure by illuminating the Fabry Perot interferometer with a suitable monochromatic source may be performed on orbit to actively control of the parallelism of the flats. This report describes the use of such a technique in a laboratory environment applied to a piezo-electric stack attached to the center of a Fabry Perot etalon.

  13. Lysosomal Storage Diseases To date

    OpenAIRE

    HOFFMANN, Björn; MAYATEPEK, Ertan

    2011-01-01

    New therapeutic options and progress of approved therapies have made Lysosomal Storage Diseases (LSDs) one of the most exciting group of diseases. This review aims to summarize current achievements in these particular disorders and to give an outlook towards possible future treatment options. Enzyme replacement therapy is the gold standard for Gaucher disease, Fabry disease, Mucopolysaccharidosis type I, II, and VI, and for Pompe disease. Besides this, substrate reduction has been approved fo...

  14. Fiber Fabry-Perot interferometer with controllable temperature sensitivity.

    Science.gov (United States)

    Zhang, Xinpu; Peng, Wei; Zhang, Yang

    2015-12-01

    We proposed a fiber taper based on the Fabry-Perot (FP) interferometer structure with controllable temperature sensitivity. The FP interferometer is formed by inserting a segment of tapered fiber tip into the capillary and subsequently splicing the other end of the capillary to a single-mode fiber (SMF), the tapered fiber endface, and the spliced face form the FP cavity. Through controlling the inserted tapered fiber length, a series of FP interferometers were made. Because the inserted taper tip has the degree of freedom along the fiber axial, when the FP interferometer is subjected to temperature variation, the thermal expansion of the fiber taper tip will resist the FP cavity length change caused by the evolution of capillary length, and we can control the temperature sensitivity by adjusting the inserted taper length. In this structure, the equivalent thermal expansion coefficient of the FP interferometer can be defined; it was used to evaluate the temperature sensitivity of the FP interferometer, which provides an effective method to eliminate the temperature effect and to enhance other measurement accuracy. We fabricated the FP interferometers and calibrated their temperature characters by measuring the wavelength shift of the resonance dips in the reflection spectrum. In a temperature range of 50°C to 150°C, the corresponding temperature sensitivities can be controlled between 0 and 1.97 pm/°C when the inserted taper is between 75 and 160 μm. Because of its controllable temperature sensitivity, ease of fabrication, and low cost, this FP interferometer can meet different temperature sensitivity requirements in various application areas, especially in the fields which need temperature insensitivity.

  15. A Fabry-Perot interferometer for hard X-rays

    International Nuclear Information System (INIS)

    Caticha, A.; Caticha-Ellis, S.

    1990-01-01

    Reflection and transmission coefficients are calculated of a sequence of N thin parallel crystals diffracting close to normal incidence and separated by thin non-diffracting gaps. From the study of the particular case N=2 a new Fabry-Perot interferometer (FPI) is proposed for hard X-rays (wavelengths of the order of Angstroms). It is found that the FPI plates do not need to be carved from a single perfect crystal block but may be grown or cleaved by other methods. This interesting possibility is suggested by two facts. First, it is known that for incidence close to normal various features of dynamical diffraction are much less sensitive to crystal defects and crystal orientation. Second, the existence of a mismatch between the lattices of the two FPI plates may affect but does not qualitatively alter the performance of the FPI. It is shown that the optimal thickness of the plates is of the order of a few microns or less. The plates may be built from a wide variety of materials. The transmission of X-rays is studied as a function of the energy and direction of the incident photons for various values of the plate thickness, of the gap, of the lattice mismatch, and also for different materials in the gap. The transmission profile exhibits a peak which is spectrally very sharp (about 10 -3 eV for low order reflections and even less for higher ones) and which can be easily tuned by changing either the lattice mismatch or the temperature. FPI plates built of materials with low absorption such as graphite seem to be particularly convenient. Several possible applications are suggested. (author)

  16. All-fiber, long-active-length Fabry-Perot strain sensor.

    Science.gov (United States)

    Pevec, Simon; Donlagic, Denis

    2011-08-01

    This paper presents a high-sensitivity, all-silica, all-fiber Fabry-Perot strain-sensor. The proposed sensor provides a long active length, arbitrary length of Fabry-Perot cavity, and low intrinsic temperature sensitivity. The sensor was micro-machined from purposely-developed sensor-forming fiber that is etched and directly spliced to the lead-in fiber. This manufacturing process has good potential for cost-effective, high-volume production. Its measurement range of over 3000 µε, and strain-resolution better than 1 µε were demonstrated by the application of a commercial, multimode fiber-based signal processor.

  17. Extrinsic fiber-optic Fabry-Perot interferometer sensor for refractive index measurement of optical glass

    International Nuclear Information System (INIS)

    Chen Jihuan; Zhao Jiarong; Huang Xuguang; Huang Zhenjian

    2010-01-01

    A simple fiber-optic sensor based on Fabry-Perot interference for refractive index measurement of optical glass is investigated both theoretically and experimentally. A broadband light source is coupled into an extrinsic fiber Fabry-Perot cavity formed by the surfaces of a sensing fiber end and the measured sample. The interference signals from the cavity are reflected back into the same fiber. The refractive index of the sample can be obtained by measuring the contrast of the interference fringes. The experimental data meet with the theoretical values very well. The proposed technique is a new method for glass refractive index measurement with a simple, solid, and compact structure.

  18. Retinal single-layer analysis with optical coherence tomography shows inner retinal layer thinning in Huntington's disease as a potential biomarker.

    Science.gov (United States)

    Gulmez Sevim, Duygu; Unlu, Metin; Gultekin, Murat; Karaca, Cagatay

    2018-02-12

    There have been ongoing clinical trials of therapeutic agents in Huntington's disease (HD) which requires development of reliable biomarkers of disease progression. There have been studies in the literature with conflicting results on the involvement of retina in HD, and up to date there is not a study evaluating the single retinal layers in HD. We aimed to evaluate the specific retinal changes in HD and their usability as potential disease progression markers. This cross-sectional study used spectral-domain optical coherence tomography with automatic segmentation to measure peripapillary retinal nerve fiber layer (pRNFL) thickness and the thickness and volume of retinal layers in foveal scans of 15 patients with HD and 15 age- and sex-matched controls. Genetic testing results, disease duration, HD disease burden scores and Unified HD Rating Scales motor scores were acquired for the patients. Temporal pRNFL, macular RNFL (mRNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), inner nuclear layer and outer plexiform layer thicknesses and IPL, retinal pigment epithelium and outer macular volume were found lower in HD compared to controls, while outer nuclear layer and outer retinal layer thickness were increased (p layer thicknesses, most significantly with mRNFL and GCL and disease progression markers. The outcomes of this study points out that retinal layers, most significantly mRNFL and GCL, are strongly correlated with the disease progression in HD and could serve as useful biomarkers for disease progression.

  19. Mirror Birefringence in a Fabry-Perot Cavity and the Detection of Vacuum Birefringence in a Magnetic Field

    Science.gov (United States)

    Chui, T. C. P.; Shao, M.; Redding, D.; Gursel, Y.; Boden, A.

    1995-01-01

    We discuss the effect of mirror birefringence in two optical schemes designed to detect the quantum-electrodynamics (QED) predictions of vacuum birefringence under the influence of a strong magnetic field, B. Both schemes make use of a high finesse Fabry-Perot cavity (F-P) to increase the average path length of the light in the magnetic field. The first scheme, which we called the frequency scheme, is based on measurement of the beat frequency of two orthogonal polarized laser beams in the cavity. We show that mirror birefringence contributes to the detection uncertainties in first order, resulting in a high susceptibility to small thermal disturbances. We estimate that an unreasonably high thermal stability of 10-9 K is required to resolve the effect to 0.1%. In the second scheme, which we called the polarization rotation scheme, laser polarized at 45 relative to the B field is injected into the cavity.

  20. Parallelised photoacoustic signal acquisition using a Fabry-Perot sensor and a camera-based interrogation scheme

    Science.gov (United States)

    Saeb Gilani, T.; Villringer, C.; Zhang, E.; Gundlach, H.; Buchmann, J.; Schrader, S.; Laufer, J.

    2018-02-01

    Tomographic photoacoustic (PA) images acquired using a Fabry-Perot (FP) based scanner offer high resolution and image fidelity but can result in long acquisition times due to the need for raster scanning. To reduce the acquisition times, a parallelised camera-based PA signal detection scheme is developed. The scheme is based on using a sCMOScamera and FPI sensors with high homogeneity of optical thickness. PA signals were acquired using the camera-based setup and the signal to noise ratio (SNR) was measured. A comparison of the SNR of PA signal detected using 1) a photodiode in a conventional raster scanning detection scheme and 2) a sCMOS camera in parallelised detection scheme is made. The results show that the parallelised interrogation scheme has the potential to provide high speed PA imaging.

  1. Amplification of the Signal Intensity of Fluorescence-Based Fiber-Optic Biosensors Using a Fabry-Perot Resonator Structure

    Directory of Open Access Journals (Sweden)

    Meng-Chang Hsieh

    2015-02-01

    Full Text Available Fluorescent biosensors have been widely used in biomedical applications. To amplify the intensity of fluorescence signals, this study developed a novel structure for an evanescent wave fiber-optic biosensor by using a Fabry-Perot resonator structure. An excitation light was coupled into the optical fiber through a laser-drilled hole on the proximal end of the resonator. After entering the resonator, the excitation light was reflected back and forth inside the resonator, thereby amplifying the intensity of the light in the fiber. Subsequently, the light was used to excite the fluorescent molecules in the reactive region of the sensor. The experimental results showed that the biosensor signal was amplified eight-fold when the resonator reflector was formed using a 92% reflective coating. Furthermore, in a simulation, the biosensor signal could be amplified 20-fold by using a 99% reflector.

  2. Podocitúria na doença de Fabry

    Directory of Open Access Journals (Sweden)

    Ester Miranda Pereira

    2016-03-01

    Full Text Available Resumo Introdução: A doença de Fabry (DF é uma desordem lisossômica ligada ao cromossomo X ocasionada por mutações no gene que codifica a enzima lisossômica α-galactosidase A (α-GAL. A redução ou ausência da atividade dessa enzima leva ao acúmulo progressivo de gb3. A doença renal é uma importante consequência clínica da acumulação de Gb3. Podócito é o tipo celular mais afetado na doença renal, que mostra apenas uma resposta parcial à Terapia de Reposição Enzimática. Além disso, a disfunção podocitária é a principal contribuinte para a perda progressiva da função renal e pode ser encontrada alterada mesmo antes do início da microalbuminúria. Assim, a podocitúria na DF pode ser uma ferramenta importante para prever a doença renal. Objetivo: O objetivo deste estudo foi quantificar a excreção urinária de podócitos em pacientes com DF (V269M, n = 14 e controles saudáveis (n = 40, e relacioná-las com as variáveis sexo, idade, tempo de terapia e a razão albumina: creatinina (AUC. Métodos: Podócitos urinários foram identificados utilizando imunofluorescência para podocalixina e DAPI. O número de células podocalixina positivo foi contado e o número médio foi utilizado (faixa normal 0-0.6 podócitos/mL. Resultados: O número médio de podócitos na urina de pacientes com DF foi significativamente maior do que os controles saudáveis (p < 0.0001. Observou-se uma correlação positiva entre podocitúria e AUC (p = 0.004; r2 = 0.6417. Conclusão: A podocitúria pode ser uma ferramenta adicional para avaliar a progressão da doença renal em pacientes que se espera que tenha um fenótipo mais agressivo.

  3. Obesity in show cats.

    Science.gov (United States)

    Corbee, R J

    2014-12-01

    Obesity is an important disease with a high prevalence in cats. Because obesity is related to several other diseases, it is important to identify the population at risk. Several risk factors for obesity have been described in the literature. A higher incidence of obesity in certain cat breeds has been suggested. The aim of this study was to determine whether obesity occurs more often in certain breeds. The second aim was to relate the increased prevalence of obesity in certain breeds to the official standards of that breed. To this end, 268 cats of 22 different breeds investigated by determining their body condition score (BCS) on a nine-point scale by inspection and palpation, at two different cat shows. Overall, 45.5% of the show cats had a BCS > 5, and 4.5% of the show cats had a BCS > 7. There were significant differences between breeds, which could be related to the breed standards. Most overweight and obese cats were in the neutered group. It warrants firm discussions with breeders and cat show judges to come to different interpretations of the standards in order to prevent overweight conditions in certain breeds from being the standard of beauty. Neutering predisposes for obesity and requires early nutritional intervention to prevent obese conditions. Journal of Animal Physiology and Animal Nutrition © 2014 Blackwell Verlag GmbH.

  4. A Green Fabry-Perot Cavity for Jefferson Lab Hall A Compton Polarimetry

    International Nuclear Information System (INIS)

    Rakhman, Abdurahim; Souder, Paul; Nanda, Sirish

    2009-01-01

    A green laser (CW, 532 nm) based Fabry-Perot cavity for high precision Compton Polarimetry is under development in Hall A of the Jefferson Laboratory. In this paper, we present the principle and the preliminary studies for our test cavity.

  5. Characterization of a Fabry--Perot interferometer and a dc arc plasma jet for spectrochemical analysis

    Energy Technology Data Exchange (ETDEWEB)

    Ford, C.S.

    1979-01-01

    A system involving the use of a Fabry--Perot interferometer in combination with a dc arc plasma jet has been constructed and characterized for spectrochemical analysis. Parameters such as flow rate ratio, observation region, electrode composition and orifice size have been considered. Improvements such as noise reduction and dry aerosol introduction of samples were suggested.

  6. Crescent shaped Fabry-Perot fiber cavity for ultra-sensitive strain measurement

    Science.gov (United States)

    Liu, Ye; Wang, D. N.; Chen, W. P.

    2016-12-01

    Optical Fabry-Perot interferometer sensors based on inner air-cavity is featured with compact size, good robustness and high strain sensitivity, especially when an ultra-thin air-cavity is adopted. The typical shape of Fabry-Perot inner air-cavity with reflection mode of operation is elliptic, with minor axis along with and major axis perpendicular to the fiber length. The first reflection surface is diverging whereas the second one is converging. To increase the visibility of the output interference pattern, the length of major axis should be large for a given cavity length. However, the largest value of the major axis is limited by the optical fiber diameter. If the major axis length reaches the fiber diameter, the robustness of the Fabry-Perot cavity device would be decreased. Here we demonstrate an ultra-thin crescent shaped Fabry-Perot cavity for strain sensing with ultra-high sensitivity and low temperature cross-sensitivity. The crescent-shape cavity consists of two converging reflection surfaces, which provide the advantages of enhanced strain sensitivity when compared with elliptic or D-shaped FP cavity. The device is fabricated by fusion splicing an etched multimode fiber with a single mode fiber, and hence is simple in structure and economic in cost.

  7. Transfer functions of double- and multiple-cavity Fabry-Perot filters driven by Lorentzian sources.

    Science.gov (United States)

    Marti, J; Capmany, J

    1996-12-20

    We derive expressions for the transfer functions of double- and multiple-cavity Fabry-Perot filters driven by laser sources with Lorentzian spectrum. These are of interest because of their applications in sensing and channel filtering in optical frequency-division multiplexing networks.

  8. Folded Fabry-Perot quasi-optical ring resonator diplexer Theory and experiment

    Science.gov (United States)

    Pickett, H. M.; Chiou, A. E. T.

    1983-01-01

    Performance of folded Fabry-Perot quasi-optical ring resonator diplexers with different geometries of reflecting surfaces is investigated both theoretically and experimentally. Design of optimum surface geometry for minimum diffraction, together with the figure of merit indicating improvement in performance, are given.

  9. Large-area Fabry-Perot modulator based on electro-optic polymers

    DEFF Research Database (Denmark)

    Benter, Nils; Bertram, Ralph Peter; Soergel, Elisabeth

    2006-01-01

    We present a large-area electro-optic Fabry-Perot modulator utilizing a photoaddressable bis-azo polymer placed between two dielectric mirrors with an open aperture of 2 cm. A modulation efficientcy of 1% at an effective modulation voltage of 20 V for a wavelength of 1.55 mymeter is demonstrated...

  10. Characterization of a Fabry--Perot interferometer and a dc arc plasma jet for spectrochemical analysis

    International Nuclear Information System (INIS)

    Ford, C.S.

    1979-01-01

    A system involving the use of a Fabry--Perot interferometer in combination with a dc arc plasma jet has been constructed and characterized for spectrochemical analysis. Parameters such as flow rate ratio, observation region, electrode composition and orifice size have been considered. Improvements such as noise reduction and dry aerosol introduction of samples were suggested

  11. Comprehensive behavioral testing in the R6/2 mouse model of Huntington's disease shows no benefit from CoQ10 or minocycline.

    Directory of Open Access Journals (Sweden)

    Liliana B Menalled

    2010-03-01

    Full Text Available Previous studies of the effects of coenzyme Q10 and minocycline on mouse models of Huntington's disease have produced conflicting results regarding their efficacy in behavioral tests. Using our recently published best practices for husbandry and testing for mouse models of Huntington's disease, we report that neither coenzyme Q10 nor minocycline had significant beneficial effects on measures of motor function, general health (open field, rotarod, grip strength, rearing-climbing, body weight and survival in the R6/2 mouse model. The higher doses of minocycline, on the contrary, reduced survival. We were thus unable to confirm the previously reported benefits for these two drugs, and we discuss potential reasons for these discrepancies, such as the effects of husbandry and nutrition.

  12. Past smoking and current dopamine agonist use show an independent and dose-dependent association with impulse control disorders in Parkinson's disease.

    Science.gov (United States)

    Valença, Guilherme T; Glass, Philip G; Negreiros, Nadja N; Duarte, Meirelayne B; Ventura, Lais M G B; Mueller, Mila; Oliveira-Filho, Jamary

    2013-07-01

    Previous studies have described the association between dopamine replacement therapy in Parkinson's disease and impulse control disorders. A case-control study was performed to establish the prevalence of four of these behaviors in Brazilian patients with Parkinson's disease on stable dopamine replacement therapy and the possible associated risk factors. We investigated 152 patients and 212 healthy controls for pathological gambling, compulsive sexual behavior and compulsive buying and eating. Overall, patients had more impulsive control disorders than controls (18.4% vs. 4.2%, P Impulse control disorders were more common in younger patients (P = 0.008) and in those taking dopamine agonist (P impulse control disorders were history of smoking (odds ratio = 1.059 for each year of smoking, P = 0.010) and current use of pramipexole (odds ratio = 2.551 for each increase in 1 mg, P impulse control disorders in a dose-dependent manner. Copyright © 2013 Elsevier Ltd. All rights reserved.

  13. Transgenic wheat expressing Thinopyrum intermedium MYB transcription factor TiMYB2R-1 shows enhanced resistance to the take-all disease.

    Science.gov (United States)

    Liu, Xin; Yang, Lihua; Zhou, Xianyao; Zhou, Miaoping; Lu, Yan; Ma, Lingjian; Ma, Hongxiang; Zhang, Zengyan

    2013-05-01

    The disease take-all, caused by the fungus Gaeumannomyces graminis, is one of the most destructive root diseases of wheat worldwide. Breeding resistant cultivars is an effective way to protect wheat from take-all. However, little progress has been made in improving the disease resistance level in commercial wheat cultivars. MYB transcription factors play important roles in plant responses to environmental stresses. In this study, an R2R3-MYB gene in Thinopyrum intermedium, TiMYB2R-1, was cloned and characterized. The gene sequence includes two exons and an intron. The expression of TiMYB2R-1 was significantly induced following G. graminis infection. An in vitro DNA binding assay proved that TiMYB2R-1 protein could bind to the MYB-binding site cis-element ACI. Subcellular localization assays revealed that TiMYB2R-1 was localized in the nucleus. TiMYB2R-1 transgenic wheat plants were generated, characterized molecularly, and evaluated for take-all resistance. PCR and Southern blot analyses confirmed that TiMYB2R-1 was integrated into the genomes of three independent transgenic wheat lines by distinct patterns and the transgene was heritable. Reverse transcription-PCR and western blot analyses revealed that TiMYB2R-1 was highly expressed in the transgenic wheat lines. Based on disease response assessments for three successive generations, the significantly enhanced resistance to take-all was observed in the three TiMYB2R-1-overexpressing transgenic wheat lines. Furthermore, the transcript levels of at least six wheat defence-related genes were significantly elevated in the TiMYB2R-1 transgenic wheat lines. These results suggest that engineering and overexpression of TiMYB2R-1 may be used for improving take-all resistance of wheat and other cereal crops.

  14. Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Suna Lahut

    2017-05-01

    Full Text Available Parkinson's disease (PD is a frequent neurodegenerative process in old age. Accumulation and aggregation of the lipid-binding SNARE complex component α-synuclein (SNCA underlies this vulnerability and defines stages of disease progression. Determinants of SNCA levels and mechanisms of SNCA neurotoxicity have been intensely investigated. In view of the physiological roles of SNCA in blood to modulate vesicle release, we studied blood samples from a new large pedigree with SNCA gene duplication (PARK4 mutation to identify effects of SNCA gain of function as potential disease biomarkers. Downregulation of complexin 1 (CPLX1 mRNA was correlated with genotype, but the expression of other Parkinson's disease genes was not. In global RNA-seq profiling of blood from presymptomatic PARK4 indviduals, bioinformatics detected significant upregulations for platelet activation, hemostasis, lipoproteins, endocytosis, lysosome, cytokine, Toll-like receptor signaling and extracellular pathways. In PARK4 platelets, stimulus-triggered degranulation was impaired. Strong SPP1, GZMH and PLTP mRNA upregulations were validated in PARK4. When analysing individuals with rapid eye movement sleep behavior disorder, the most specific known prodromal stage of general PD, only blood CPLX1 levels were altered. Validation experiments confirmed an inverse mutual regulation of SNCA and CPLX1 mRNA levels. In the 3′-UTR of the CPLX1 gene we identified a single nucleotide polymorphism that is significantly associated with PD risk. In summary, our data define CPLX1 as a PD risk factor and provide functional insights into the role and regulation of blood SNCA levels. The new blood biomarkers of PARK4 in this Turkish family might become useful for PD prediction.

  15. Fourier Transform Infrared Imaging Shows Reduced Unsaturated Lipid Content in the Hippocampus of a Mouse Model of Alzheimer’s Disease

    OpenAIRE

    Leskovjan, Andreana C.; Kretlow, Ariane; Miller, Lisa M.

    2010-01-01

    Polyunsaturated fatty acids are essential to brain functions such as membrane fluidity, signal transduction, and cell survival. It is also thought that low levels of unsaturated lipid in the brain may contribute to Alzheimer’s disease (AD) risk or severity. However, it is not known how accumulation of unsaturated lipids is affected in different regions of the hippocampus, which is a central target of AD plaque pathology, during aging. In this study, we used Fourier Transform Infrared Imaging ...

  16. Investigation of mode partition noise in Fabry-Perot laser diode

    Science.gov (United States)

    Guo, Qingyi; Deng, Lanxin; Mu, Jianwei; Li, Xun; Huang, Wei-Ping

    2014-09-01

    Passive optical network (PON) is considered as the most appealing access network architecture in terms of cost-effectiveness, bandwidth management flexibility, scalability and durability. And to further reduce the cost per subscriber, a Fabry-Perot (FP) laser diode is preferred as the transmitter at the optical network units (ONUs) because of its lower cost compared to distributed feedback (DFB) laser diode. However, the mode partition noise (MPN) associated with the multi-longitudinal-mode FP laser diode becomes the limiting factor in the network. This paper studies the MPN characteristics of the FP laser diode using the time-domain simulation of noise-driven multi-mode laser rate equation. The probability density functions are calculated for each longitudinal mode. The paper focuses on the investigation of the k-factor, which is a simple yet important measure of the noise power, but is usually taken as a fitted or assumed value in the penalty calculations. In this paper, the sources of the k-factor are studied with simulation, including the intrinsic source of the laser Langevin noise, and the extrinsic source of the bit pattern. The photon waveforms are shown under four simulation conditions for regular or random bit pattern, and with or without Langevin noise. The k-factors contributed by those sources are studied with a variety of bias current and modulation current. Simulation results are illustrated in figures, and show that the contribution of Langevin noise to the k-factor is larger than that of the random bit pattern, and is more dominant at lower bias current or higher modulation current.

  17. Lifestyle risk factors for ischemic stroke and transient ischemic attack in young adults in the Stroke in Young Fabry Patients study.

    Science.gov (United States)

    von Sarnowski, Bettina; Putaala, Jukka; Grittner, Ulrike; Gaertner, Beate; Schminke, Ulf; Curtze, Sami; Huber, Roman; Tanislav, Christian; Lichy, Christoph; Demarin, Vida; Basic-Kes, Vanja; Ringelstein, E Bernd; Neumann-Haefelin, Tobias; Enzinger, Christian; Fazekas, Franz; Rothwell, Peter M; Dichgans, Martin; Jungehulsing, Gerhard J; Heuschmann, Peter U; Kaps, Manfred; Norrving, Bo; Rolfs, Arndt; Kessler, Christof; Tatlisumak, Turgut

    2013-01-01

    Although many stroke patients are young or middle-aged, risk factor profiles in these age groups are poorly understood. The Stroke in Young Fabry Patients (sifap1) study prospectively recruited a large multinational European cohort of patients with cerebrovascular events aged 18 to 55 years to establish their prevalence of Fabry disease. In a secondary analysis of patients with ischemic stroke or transient ischemic attack, we studied age- and sex-specific prevalences of various risk factors. Among 4467 patients (median age, 47 years; interquartile range, 40-51), the most frequent well-documented and modifiable risk factors were smoking (55.5%), physical inactivity (48.2%), arterial hypertension (46.6%), dyslipidemia (34.9%), and obesity (22.3%). Modifiable less well-documented or potentially modifiable risk factors like high-risk alcohol consumption (33.0%) and short sleep duration (20.6%) were more frequent in men, and migraine (26.5%) was more frequent in women. Women were more often physically inactive, most pronouncedly at ages young patients with acute ischemic cerebrovascular events, modifiable risk factors were highly prevalent, particularly in men and older patients. These data emphasize the need for vigorous primary and secondary prevention measures already in young populations targeting modifiable lifestyle vascular risk factors.

  18. Atypical Creutzfeldt-Jakob disease with PrP-amyloid plaques in white matter: molecular characterization and transmission to bank voles show the M1 strain signature.

    Science.gov (United States)

    Rossi, Marcello; Saverioni, Daniela; Di Bari, Michele; Baiardi, Simone; Lemstra, Afina Willemina; Pirisinu, Laura; Capellari, Sabina; Rozemuller, Annemieke; Nonno, Romolo; Parchi, Piero

    2017-11-23

    Amyloid plaques formed by abnormal prion protein (PrP Sc ) aggregates occur with low frequency in Creutzfeldt-Jakob disease, but represent a pathological hallmark of three relatively rare disease histotypes, namely variant CJD, sporadic CJDMV2K (methionine/valine at PRNP codon 129, PrP Sc type 2 and kuru-type amyloid plaques) and iatrogenic CJDMMiK (MM at codon 129, PrP Sc of intermediate type and kuru plaques). According to recent studies, however, PrP-amyloid plaques involving the subcortical and deep nuclei white matter may also rarely occur in CJDMM1 (MM at codon 129 and PrP Sc type 1), the most common CJD histotype.To further characterize the phenotype of atypical CJDMM1 with white matter plaques (p-CJDMM1) and unravel the basis of amyloid plaque formation in such cases, we compared clinical and histopathological features and PrP Sc physico-chemical properties between 5 p-CJDMM1 and 8 typical CJDMM1 brains lacking plaques. Furthermore, transmission properties after bioassay in two genetic lines of bank voles were also explored in the two groups.All 5 p-CJDMM1 cases had a disease duration longer than one year. Three cases were classified as sporadic CJDMM1, one as sporadic CJDMM1 + 2C and one as genetic CJDE200K-MM1. Molecular mass, protease sensitivity and thermo-solubilization of PrP Sc aggregates did not differ between p-CJDMM1 and classical CJDMM1 cases. Likewise, transmission properties such as incubation time, lesion profile and PrP Sc properties in bank voles also matched in the two groups.The present data further define the clinical-pathologic phenotype of p-CJDMM1, definitely establish it as a distinctive CJD histotype and demonstrate that PrP-plaque formation in this histotype is not a strain-specific feature. Since cases lacking amyloid plaques may also manifest a prolonged (i.e. > than one year) disease course, unidentified, host-specific factors likely play a significant role, in addition to disease duration, in generating white matter Pr

  19. Performance Evaluation of Fabry-Perot Temperature Sensors in Nuclear Power Plant Measurements

    International Nuclear Information System (INIS)

    Liu Hanying; Miller, Don W.; Talnagi, Joseph W.

    2003-01-01

    The Fiso Fabry-Perot fiber-optic temperature sensor was selected for performance evaluation and for potential application in nuclear power plants because of its unique interferometric sensing mechanism and data-processing technique, and its commercial availability. It employs a Fizeau interferometer and a charge-coupled device array to locate the position of the maximum interference fringe intensity, which is directly related to the environmental temperature. Consequently, the basic sensing mechanism is independent of the absolute transmitted light intensity, which is the most likely parameter to be affected by external harsh environments such as nuclear irradiation, high pressure/temperature, and cyclical vibration.This paper reports research on the performance of two Fiso Fabry-Perot temperature sensors in environmental conditions expected in nuclear power plants during both normal and abnormal (i.e., accident) conditions. The environmental conditions simulated in this paper include gamma-only ( 60 Co) irradiation, pressure/temperature environmental transient, and mixed neutron/gamma field, respectively.The first sensor exhibited no failure or degradation in performance during and following gamma-only irradiation in which a total dose of 15 kGy was delivered at a dose rate of 2.5 kGy/h. Following gamma irradiation, this sensor was then tested for 10.75 days in a thermohydraulic environment prescribed by the Institute of Electrical and Electronics Engineers IEEE323-1983. Intermittent behavior was observed throughout the latter portions of this test, and degradation in performance occurred after the test. Visual evaluation after opening the sensor head indicated that the internal welding methodology was the primary contributor to the observed behavior during this test. Further consultation with the vendor shows that the robustness and reliability of Fiso sensors can be substantially improved by modifying the internal welding methods.The second Fiso temperature

  20. Genetic variation and recombination of RdRp and HSP 70h genes of Citrus tristeza virus isolates from orange trees showing symptoms of citrus sudden death disease

    Directory of Open Access Journals (Sweden)

    Pappas Georgios J

    2008-01-01

    Full Text Available Abstract Background Citrus sudden death (CSD, a disease that rapidly kills orange trees, is an emerging threat to the Brazilian citrus industry. Although the causal agent of CSD has not been definitively determined, based on the disease's distribution and symptomatology it is suspected that the agent may be a new strain of Citrus tristeza virus (CTV. CTV genetic variation was therefore assessed in two Brazilian orange trees displaying CSD symptoms and a third with more conventional CTV symptoms. Results A total of 286 RNA-dependent-RNA polymerase (RdRp and 284 heat shock protein 70 homolog (HSP70h gene fragments were determined for CTV variants infecting the three trees. It was discovered that, despite differences in symptomatology, the trees were all apparently coinfected with similar populations of divergent CTV variants. While mixed CTV infections are common, the genetic distance between the most divergent population members observed (24.1% for RdRp and 11.0% for HSP70h was far greater than that in previously described mixed infections. Recombinants of five distinct RdRp lineages and three distinct HSP70h lineages were easily detectable but respectively accounted for only 5.9 and 11.9% of the RdRp and HSP70h gene fragments analysed and there was no evidence of an association between particular recombinant mosaics and CSD. Also, comparisons of CTV population structures indicated that the two most similar CTV populations were those of one of the trees with CSD and the tree without CSD. Conclusion We suggest that if CTV is the causal agent of CSD, it is most likely a subtle feature of population structures within mixed infections and not merely the presence (or absence of a single CTV variant within these populations that triggers the disease.

  1. Stable CW Single Frequency Operation of Fabry-Perot Laser Diodes by Self-Injection Phase Locking

    Science.gov (United States)

    Duerksen, Gary L.; Krainak, Michael A.

    1999-01-01

    Previously, single-frequency semiconductor laser operation using fiber Bragg gratings has been achieved by tWo methods: 1) use of the FBG as the output coupler for an anti-reflection-coated semiconductor gain element'; 2) pulsed operation of a gain-switched Fabry-Perot laser diode with FBG-optical and RF-electrical feedback'. Here, we demonstrate CW single frequency operation from a non-AR coated Fabry-Perot laser diode using only FBG optical feedback.

  2. Comparison of G protein sequences of South African street rabies viruses showing distinct progression of the disease in a mouse model of experimental rabies.

    Science.gov (United States)

    Seo, Wonhyo; Servat, Alexandre; Cliquet, Florence; Akinbowale, Jenkins; Prehaud, Christophe; Lafon, Monique; Sabeta, Claude

    Rabies is a fatal zoonotic disease and infections generally lead to a fatal encephalomyelitis in both humans and animals. In South Africa, domestic (dogs) and the wildlife (yellow mongoose) host species maintain the canid and mongoose rabies variants respectively. In this study, pathogenicity differences of South African canid and mongoose rabies viruses were investigated in a murine model, by assessing the progression of clinical signs and survivorship. Comparison of glycoprotein gene sequences revealed amino acid differences that may underpin the observed pathogenicity differences. Cumulatively, our results suggest that the canid rabies virus may be more neurovirulent in mice than the mongoose rabies variant. Copyright © 2017 Institut Pasteur. Published by Elsevier Masson SAS. All rights reserved.

  3. Transcriptomic Analysis of Lung Tissue from Cigarette Smoke-Induced Emphysema Murine Models and Human Chronic Obstructive Pulmonary Disease Show Shared and Distinct Pathways.

    Science.gov (United States)

    Yun, Jeong H; Morrow, Jarrett; Owen, Caroline A; Qiu, Weiliang; Glass, Kimberly; Lao, Taotao; Jiang, Zhiqiang; Perrella, Mark A; Silverman, Edwin K; Zhou, Xiaobo; Hersh, Craig P

    2017-07-01

    Although cigarette smoke (CS) is the primary risk factor for chronic obstructive pulmonary disease (COPD), the underlying molecular mechanisms for the significant variability in developing COPD in response to CS are incompletely understood. We performed lung gene expression profiling of two different wild-type murine strains (C57BL/6 and NZW/LacJ) and two genetic models with mutations in COPD genome-wide association study genes (HHIP and FAM13A) after 6 months of chronic CS exposure and compared the results to human COPD lung tissues. We identified gene expression patterns that correlate with severity of emphysema in murine and human lungs. Xenobiotic metabolism and nuclear erythroid 2-related factor 2-mediated oxidative stress response were commonly regulated molecular response patterns in C57BL/6, Hhip +/- , and Fam13a -/- murine strains exposed chronically to CS. The CS-resistant Fam13a -/- mouse and NZW/LacJ strain revealed gene expression response pattern differences. The Fam13a -/- strain diverged in gene expression compared with C57BL/6 control only after CS exposure. However, the NZW/LacJ strain had a unique baseline expression pattern, enriched for nuclear erythroid 2-related factor 2-mediated oxidative stress response and xenobiotic metabolism, and converged to a gene expression pattern similar to the more susceptible wild-type C57BL/6 after CS exposure. These results suggest that distinct molecular pathways may account for resistance to emphysema. Surprisingly, there were few genes commonly modulated in mice and humans. Our study suggests that gene expression responses to CS may be largely species and model dependent, yet shared pathways could provide biologically significant insights underlying individual susceptibility to CS.

  4. On-Chip High-Finesse Fabry-Perot Microcavities for Optical Sensing and Quantum Information

    Directory of Open Access Journals (Sweden)

    Mohammad H. Bitarafan

    2017-07-01

    Full Text Available For applications in sensing and cavity-based quantum computing and metrology, open-access Fabry-Perot cavities—with an air or vacuum gap between a pair of high reflectance mirrors—offer important advantages compared to other types of microcavities. For example, they are inherently tunable using MEMS-based actuation strategies, and they enable atomic emitters or target analytes to be located at high field regions of the optical mode. Integration of curved-mirror Fabry-Perot cavities on chips containing electronic, optoelectronic, and optomechanical elements is a topic of emerging importance. Micro-fabrication techniques can be used to create mirrors with small radius-of-curvature, which is a prerequisite for cavities to support stable, small-volume modes. We review recent progress towards chip-based implementation of such cavities, and highlight their potential to address applications in sensing and cavity quantum electrodynamics.

  5. A tunable Fabry-Perot filter (λ/18) based on all-dielectric metamaterials

    Science.gov (United States)

    Ao, Tianhong; Xu, Xiangdong; Gu, Yu; Jiang, Yadong; Li, Xinrong; Lian, Yuxiang; Wang, Fu

    2018-05-01

    A tunable Fabry-Perot filter composed of two separated all-dielectric metamaterials is proposed and numerically investigated. Different from metallic metamaterials reflectors, the all-dielectric metamaterials are constructed by high-permittivity TiO2 cylinder arrays and exhibit high reflection in a broadband of 2.49-3.08 THz. The high reflection is attributed to the first and second Mie resonances, by which the all-dielectric metamaterials can serve as reflectors in the Fabry-Perot filter. Both the results from phase analysis method and CST simulations reveal that the resonant frequency of the as-proposed filter appears at 2.78 THz, responding to a cavity with λ/18 wavelength thickness. Particularly, the resonant frequency can be adjusted by changing the cavity thickness. This work provides a feasible approach to design low-loss terahertz filters with a thin air cavity.

  6. Experimental study of neutron-optical potential with absorption using Fabry-Perot magnetic resonator

    International Nuclear Information System (INIS)

    Hino, M.; Tasaki, S.; Ebisawa, T.; Kawai, T.; Achiwa, N.; Yamazaki, D.

    1999-01-01

    Complete text of publication follows. Recently spin precession angles of neutrons tunneling and non-tunneling through [Permalloy45(PA)-germanium(Ge)]-PA Fabry-Perot magnetic resonator have been observed [1]. The spin precession angle is well reproduced by the theoretical phase difference of up and down spin neutron wave function based on one-dimensional Schroedinger equation using optical potential model [2]. Spin precession angle and transmission probability of neutron through PA-(Ge/Gd)-PA Fabry-Perot magnetic resonator are presented, where the gap(Ge/Gd) layer consists of germanium and gadolinium atoms, and the optical potential model for magnetic multilayer system with absorption is discussed. (author) [1] M. Hino, et al., Physica B 241-243, 1083 (1998).; [2] S. Yamada, et al., Annu. Rep. Res. Reactor Inst. Kyoto Univ. 11, 8 (1978)

  7. Understanding the concept of resolving power in the Fabry-Perot interferometer using a digital simulation

    International Nuclear Information System (INIS)

    Juvells, I; Carnicer, A; Ferre-Borrull, J; MartIn-Badosa, E; Montes-Usategui, M

    2006-01-01

    The resolution concept in connection with the Fabry-Perot interferometer is difficult to understand for undergraduate students enrolled in physical optics courses. The resolution criterion proposed in textbooks for distinguishing equal intensity maxima and the deduction of the resolving power equation is formal and non-intuitive. In this paper, we study the practical meaning of the resolution criterion and resolution power using a computer simulation of a Fabry-Perot interferometer. The light source in the program has two monochromatic components, the wavelength difference being tunable by the user. The student can also adjust other physical parameters so as to obtain different simulation results. By analysing the images and graphics of the simulation, the resolving power concept becomes intuitive and understandable

  8. Temperature-independent refractometer based on fiber-optic Fabry-Perot interferometer

    Science.gov (United States)

    Li, Jiacheng; Qiao, Xueguang; Wang, Ruohui; Rong, Qiangzhou; Bao, Weijia; Shao, Zhihua; Yang, Tingting

    2016-04-01

    A miniature fiber-optic refractometer based on Fabry-Perot interferometer (FPI) has been proposed and experimentally demonstrated. The sensing head consists of a short section of photonics crystal fiber (PCF) spliced to a single mode fiber (SMF), in which the end-face of the PCF is etched to remove holey structure with hydrofluoric (HF) acid. A Fabry-Perot interference spectrum is achieved based on the reflections from the fusion splicing interface and the end-face of the core of PCF. The interference fringe is sensitive to the external refractive index (RI) with an intensity-referenced sensitivity of 358.27 dB/RIU ranging from 1.33 to 1.38. The sensor has also been implemented for the concentration measurement of λ-phage DNA solution. In addition, the dip intensity is insensitive to the ambient temperature variation, making it a good candidate for temperature-independent bio-sensing area.

  9. High-Temperature Sensor Based on Fabry-Perot Interferometer in Microfiber Tip

    Directory of Open Access Journals (Sweden)

    Zhenshi Chen

    2018-01-01

    Full Text Available A miniaturized tip Fabry-Perot interferometer (tip-FPI is proposed for high-temperature sensing. It is simply fabricated for the first time by splicing a short length of microfiber (MF to the cleaved end of a standard single mode fiber (SMF with precise control of the relative cross section position. Such a MF acts as a Fabry-Perot (FP cavity and serves as a tip sensor. A change in temperature modifies the length and refractive index of the FP cavity, and then a corresponding change in the reflected interference spectrum can be observed. High temperatures of up to 1000 °C are measured in the experiments, and a high sensitivity of 13.6 pm/°C is achieved. This compact sensor, with tip diameter and length both of tens of microns, is suitable for localized detection, especially in harsh environments.

  10. On-Chip High-Finesse Fabry-Perot Microcavities for Optical Sensing and Quantum Information.

    Science.gov (United States)

    Bitarafan, Mohammad H; DeCorby, Ray G

    2017-07-31

    For applications in sensing and cavity-based quantum computing and metrology, open-access Fabry-Perot cavities-with an air or vacuum gap between a pair of high reflectance mirrors-offer important advantages compared to other types of microcavities. For example, they are inherently tunable using MEMS-based actuation strategies, and they enable atomic emitters or target analytes to be located at high field regions of the optical mode. Integration of curved-mirror Fabry-Perot cavities on chips containing electronic, optoelectronic, and optomechanical elements is a topic of emerging importance. Micro-fabrication techniques can be used to create mirrors with small radius-of-curvature, which is a prerequisite for cavities to support stable, small-volume modes. We review recent progress towards chip-based implementation of such cavities, and highlight their potential to address applications in sensing and cavity quantum electrodynamics.

  11. Polar cap mesosphere wind observations: comparisons of simultaneous measurements with a Fabry-Perot interferometer and a field-widened Michelson interferometer.

    Science.gov (United States)

    Fisher, G M; Killeen, T L; Wu, Q; Reeves, J M; Hays, P B; Gault, W A; Brown, S; Shepherd, G G

    2000-08-20

    Polar cap mesospheric winds observed with a Fabry-Perot interferometer with a circle-to-line interferometer optical (FPI/CLIO) system have been compared with measurements from a field-widened Michelson interferometer optimized for E-region winds (ERWIN). Both instruments observed the Meinel OH emission emanating from the mesopause region (approximately 86 km) at Resolute Bay, Canada (74.9 degrees N, 94.9 degrees W). This is the first time, to our knowledge, that winds measured simultaneously from a ground-based Fabry-Perot interferometer and a ground-based Michelson interferometer have been compared at the same location. The FPI/CLIO and ERWIN instruments both have a capability for high temporal resolution (less than 10 min for a full scan in the four cardinal directions and the zenith). Statistical comparisons of hourly mean winds for both instruments by scatterplots show excellent agreement, indicating that the two optical techniques provide equivalent observations of mesopause winds. Small deviations in the measured wind can be ascribed to the different zenith angles used by the two instruments. The combined measurements illustrate the dominance of the 12-h wave in the mesopause winds at Resolute Bay, with additional evidence for strong gravity wave activity with much shorter periods (tens of minutes). Future operations of the two instruments will focus on observation of complementary emissions, providing a unique passive optical capability for the determination of neutral winds in the geomagnetic polar cap at various altitudes near the mesopause.

  12. Quantum transport in bilayer graphene. Fabry-Perot interferences and proximity-induced superconductivity

    International Nuclear Information System (INIS)

    Du, Renjun

    2015-01-01

    Bilayer graphene (BLG) p-n junctions made of hBN-BLG-hBN (hexagonal boron nitride) heterostructures enable ballistic transport over long distances. We investigate Fabry-Perot interferences, and detect that the bilayer-like anti-Klein tunneling transits into single-layer-like Klein tunneling when tuning the Fermi level towards the band edges. Furthermore, the proximity-induced superconductivity has been studied in these devices with Al leads.

  13. Fabry-Perot Interferometer Performance as Temperature Sensor for Use in Electrical Power System Applications

    Directory of Open Access Journals (Sweden)

    Sanjoy Mandal

    2007-09-01

    Full Text Available Transfer function model of the loss less Fabry-Perot cavity (FPI, developed in Z-domain is presented in this paper. Frequency response analysis of the model was carried out in MATLAB environment to explain the behavior of the interferometer and its potential as temperature sensor was studied. Analysis reveals a highly sensitive temperature sensor that can be used in electrical engineering power system applications.

  14. Influence of laser frequency noise on scanning Fabry-Perot interferometer based laser Doppler velocimetry

    DEFF Research Database (Denmark)

    Rodrigo, Peter John; Pedersen, Christian

    2014-01-01

    n this work, we study the performance of a scanning Fabry-Perot interferometer based laser Doppler velocimeter (sFPILDV) and compare two candidate 1.5 um single-frequency laser sources for the system – a fiber laser (FL) and a semiconductor laser (SL). We describe a straightforward calibration...... procedure for the sFPI-LDV and investigate the effect of different degrees of laser frequency noise between the FL and the SL on the velocimeter’s performance...

  15. Statistical analysis of thermospheric gravity waves from Fabry-Perot Interferometer measurements of atomic oxygen

    Directory of Open Access Journals (Sweden)

    E. A. K. Ford

    2008-02-01

    Full Text Available Data from the Fabry-Perot Interferometers at KEOPS (Sweden, Sodankylä (Finland, and Svalbard (Norway, have been analysed for gravity wave activity on all the clear nights from 2000 to 2006. A total of 249 nights were available from KEOPS, 133 from Sodankylä and 185 from the Svalbard FPI. A Lomb-Scargle analysis was performed on each of these nights to identify the periods of any wave activity during the night. Comparisons between many nights of data allow the general characteristics of the waves that are present in the high latitude upper thermosphere to be determined. Comparisons were made between the different parameters: the atomic oxygen intensities, the thermospheric winds and temperatures, and for each parameter the distribution of frequencies of the waves was determined. No dependence on the number of waves on geomagnetic activity levels, or position in the solar cycle, was found. All the FPIs have had different detectors at various times, producing different time resolutions of the data, so comparisons between the different years, and between data from different sites, showed how the time resolution determines which waves are observed. In addition to the cutoff due to the Nyquist frequency, poor resolution observations significantly reduce the number of short-period waves (<1 h period that may be detected with confidence. The length of the dataset, which is usually determined by the length of the night, was the main factor influencing the number of long period waves (>5 h detected. Comparisons between the number of gravity waves detected at KEOPS and Sodankylä over all the seasons showed a similar proportion of waves to the number of nights used for both sites, as expected since the two sites are at similar latitudes and therefore locations with respect to the auroral oval, confirming this as a likely source region. Svalbard showed fewer waves with short periods than KEOPS data for a season when both had the same time resolution data

  16. Differential Radiometers Using Fabry-Perot Interferometric Technique for Remote Sensing of Greenhouse Gases

    Science.gov (United States)

    Georgieva, Elena M.; Heaps,William S.; Wilson, Emily L.

    2007-01-01

    A new type of remote sensing radiometer based upon the Fabry-Perot interferometric technique has been developed at NASA's Goddard Space Flight Center and tested from both ground and aircraft platform. The sensor uses direct or reflected sunlight and has channels for measuring column concentration of carbon dioxide at 1570 nm, oxygen lines sensitive to pressure and temperature at 762 and 768 nm, and water vapor (940 nm). A solid Fabry-Perot etalon is used as a tunable narrow bandpass filter to restrict the measurement to the gas of interest's absorption bands. By adjusting the temperature of the etalon, which changes the index of refraction of its material, the transmission fringes can be brought into nearly exact correspondence with absorption lines of the particular species. With this alignment between absorption lines and fringes, changes in the amount of a species in the atmosphere strongly affect the amount of light transmitted by the etalon and can be related to gas concentration. The technique is applicable to different chemical species. We have performed simulations and instrument design studies for CH4, "Cot isotope, and CO detection. Index Terms- Absorbing media, Atmospheric measurements, Fabry-Perot interferometers, Optical interferometry, Remote sensing.

  17. Infants with complex congenital heart diseases show poor short-term memory in the mobile paradigm at 3 months of age.

    Science.gov (United States)

    Chen, Chao-Ying; Harrison, Tondi; Heathcock, Jill

    2015-08-01

    The purpose of this study was to examine learning, short-term memory and general development including cognitive, motor, and language domains in infants with Complex Congenital Heart Defects (CCDH). Ten infants with CCHD (4 males, 6 females) and 14 infants with typical development (TD) were examined at 3 months of age. The mobile paradigm, where an infant's leg is tethered to an overhead mobile, was used to evaluate learning and short-term memory. The Bayley Scales of Infant Development 3rd edition (Bayley-III) was used to evaluate general development in cognitive, motor, and language domains. Infants with CCHD and infants with TD both showed learning with significant increase in kicking rate (pshort-term memory (p=0.017) in the mobile paradigm. There were no differences on cognitive, motor, and language development between infants with CCHD and infants with TD on the Bayley-III. Early assessment is necessary to guide targeted treatment in infants with CCHD. One-time assessment may fail to detect potential cognitive impairments during early infancy in infants with CCHD. Supportive intervention programs for infants with CCHD that focuses on enhancing short-term memory are recommended. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Hereditary cerebral small vessel disease and stroke

    DEFF Research Database (Denmark)

    Søndergaard, Christian Baastrup; Nielsen, Jørgen Erik; Hansen, Christine Krarup

    2017-01-01

    disturbances. Some also present with extra-cerebral manifestations such as microangiopathy of the eyes and kidneys. Many present with clinically recognizable syndromes. Investigations include a thorough family medical history, medical history, neurological examination, neuroimaging, often supplemented...... is important. Enzyme replacement therapy is possible in Fabry disease, but treatment options remain overall very limited....

  19. A case report of locally advanced triple negative breast cancer showing pathological complete response to weekly paclitaxel with bevacizumab treatment following disease progression during anthracycline-based neoadjuvant chemotherapy

    Directory of Open Access Journals (Sweden)

    Hideo Shigematsu

    2017-01-01

    Conclusions: Although the addition of bevacizumab to standard adjuvant chemotherapy is not recommended in unselected triple negative breast cancer, the potent effect on tumor shrinkage should be considered in the treatment of locally advanced triple negative breast cancer showing disease progression during standard NAC.

  20. Self-generation of optical frequency comb in single section quantum dot Fabry-Perot lasers: a theoretical study.

    Science.gov (United States)

    Bardella, Paolo; Columbo, Lorenzo Luigi; Gioannini, Mariangela

    2017-10-16

    Optical Frequency Comb (OFC) generated by semiconductor lasers are currently widely used in the extremely timely field of high capacity optical interconnects and high precision spectroscopy. In the last decade, several experimental evidences of spontaneous OFC generation have been reported in single section Quantum Dot (QD) lasers. Here we provide a physical understanding of these self-organization phenomena by simulating the multi-mode dynamics of a single section Fabry-Perot (FP) QD laser using a Time-Domain Traveling-Wave (TDTW) model that properly accounts for coherent radiation-matter interaction in the semiconductor active medium and includes the carrier grating generated by the optical standing wave pattern in the laser cavity. We show that the latter is the fundamental physical effect at the origin of the multi-mode spectrum appearing just above threshold. A self-mode-locking regime associated with the emission of OFC is achieved for higher bias currents and ascribed to nonlinear phase sensitive effects as Four Wave Mixing (FWM). Our results explain in detail the behaviour observed experimentally by different research groups and in different QD and Quantum Dash (QDash) devices.

  1. High-accuracy vibration sensor based on a Fabry-Perot interferometer with active phase-tracking technology.

    Science.gov (United States)

    Xia, Wei; Li, Chuncheng; Hao, Hui; Wang, Yiping; Ni, Xiaoqi; Guo, Dongmei; Wang, Ming

    2018-02-01

    A novel position-sensitive Fabry-Perot interferometer was constructed with direct phase modulation by a built-in electro-optic modulator. Pure sinusoidal phase modulation of the light was produced, and the first harmonic of the interference signal was extracted to dynamically maintain the interferometer phase to the most sensitive point of the interferogram. Therefore, the minute vibration of the object was coded on the variation of the interference signal and could be directly retrieved by the output voltage of a photodetector. The operating principle and the signal processing method for active feedback control of the interference phase have been demonstrated in detail. The developed vibration sensor was calibrated through a high-precision piezo-electric transducer and tested by a nano-positioning stage under a vibration magnitude of 60 nm and a frequency of 300 Hz. The active phase-tracking method of the system provides high immunity against environmental disturbances. Experimental results show that the proposed interferometer can effectively reconstruct tiny vibration waveforms with subnanometer resolution, paving the way for high-accuracy vibration sensing, especially for micro-electro-mechanical systems/nano-electro-mechanical systems and ultrasonic devices.

  2. Enhancement of fiber-optic low-coherence Fabry-Pérot interferometer with ZnO ALD films

    Science.gov (United States)

    Hirsch, Marzena; Listewnik, Paulina; Jedrzejewska-Szczerska, Małgorzata

    2018-04-01

    In this paper investigation of the enhanced fiber-optic low coherence Fabry-Pérot interferometer with zinc oxide (ZnO) film deposited by atomic layer deposition (ALD) was presented. Model of the interferometer, which was constructed of single-mode optical fiber with applied ZnO ALD films, was built. The interferometer was also examined by means of experiment. Measurements were performed for both reflective and transmission modes, using wavelengths of 1300 nm and 1500 nm. The measurements with the air cavity showed the best performance in terms of a visibility of the interference signal can be achieved for small cavity lengths ( 50μm) in both configurations. Combined with the enhancement of reflectance of the interferometer mirrors due to the ALD film, proposed construction could be successfully applied in refractive index (RI) sensor that can operate with improved visibility of the signal even in 1.3-1.5 RI range as well as with small volume samples, as shown by the modeling.

  3. Stable CW Single-Frequency Operation of Fabry-Perot Laser Diodes by Self-Injection Phase Locking

    Science.gov (United States)

    Duerksen, Gary L.; Krainak, Michael A.

    1999-01-01

    Previously, single-frequency semiconductor laser operation using fiber Bragg gratings has been achieved by two methods: 1) use of the FBG as the output coupler for an anti-reflection-coated semiconductor gain element'; 2) pulsed operation of a gain-switched Fabry-Perot laser diode with FBG-optical and RF-electrical feedback. Here, we demonstrate CW single frequency operation from a non-AR coated Fabry-Perot laser diode using only FBG optical feedback. We coupled a nominal 935 run-wavelength Fabry-Perot laser diode to an ultra narrow band (18 pm) FBG. When tuned by varying its temperature, the laser wavelength is pulled toward the centerline of the Bragg grating, and the spectrum of the laser output is seen to fall into three discrete stability regimes as measured by the side-mode suppression ratio.

  4. Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry

    Directory of Open Access Journals (Sweden)

    Pablo Neumann

    2013-10-01

    Full Text Available La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.

  5. Application of the CCD Fabry-Perot Annular Summing Technique to Thermospheric O(1)D.

    Science.gov (United States)

    Coakley, Monica Marie

    1995-01-01

    This work will detail the verification of the advantages of the Fabry-Perot charge coupled device (CCD) annular summing technique, the development of the technique for analysis of daysky spectra, and the implications of the resulting spectra for neutral temperature and wind measurements in the daysky thermosphere. The daysky spectral feature of interest is the bright (1 kilo-Rayleigh) thermospheric (OI) emission at 6300 A which had been observed in the nightsky in order to determine winds and temperatures in the vicinity of the altitude of 250 km. In the daysky, the emission line sits on top of a bright Rayleigh scattered continuum background which significantly complicates the observation. With a triple etalon Fabry-Perot spectrometer, the continuum background can be reduced while maintaining high throughput and high resolution. The inclusion of a CCD camera results in significant savings in integration time over the two more standard scanning photomultiplier systems that have made the same wind and temperature measurements in the past. A comparable CCD system can experience an order of magnitude savings in integration time over a PMT system. Laboratory and field tests which address the advantages and limitations of both the Fabry-Perot CCD annular summing technique and the daysky CCD imaging are included in Chap. 2 and Chap. 3. With a sufficiently large throughput associated with the spectrometer and a CCD detector, rapid observations (~4 minute integrations) can be made. Extraction of the line width and line center from the daysky near-continuum background is complicated compared to the nightsky case, but possible. Methods of fitting the line are included in Chap. 4. The daysky O ^1D temperatures are consistent with a lower average emission height than predicted by models. The data and models are discussed in Chap. 5. Although some discrepancies exist between resulting temperatures and models, the observations indicate the potential for other direct measurements

  6. All-optical logic gates and wavelength conversion via the injection locking of a Fabry-Perot semiconductor laser

    Science.gov (United States)

    Harvey, E.; Pochet, M.; Schmidt, J.; Locke, T.; Naderi, N.; Usechak, N. G.

    2013-03-01

    This work investigates the implementation of all-optical logic gates based on optical injection locking (OIL). All-optical inverting, NOR, and NAND gates are experimentally demonstrated using two distributed feedback (DFB) lasers, a multi-mode Fabry-Perot laser diode, and an optical band-pass filter. The DFB lasers are externally modulated to represent logic inputs into the cavity of the multi-mode Fabry-Perot slave laser. The input DFB (master) lasers' wavelengths are aligned with the longitudinal modes of the Fabry-Perot slave laser and their optical power is used to modulate the injection conditions in the Fabry-Perot slave laser. The optical band-pass filter is used to select a Fabry- Perot mode that is either suppressed or transmitted given the logic state of the injecting master laser signals. When the input signal(s) is (are) in the on state, injection locking, and thus the suppression of the non-injected Fabry-Perot modes, is induced, yielding a dynamic system that can be used to implement photonic logic functions. Additionally, all-optical photonic processing is achieved using the cavity-mode shift produced in the injected slave laser under external optical injection. The inverting logic case can also be used as a wavelength converter — a key component in advanced wavelength-division multiplexing networks. As a result of this experimental investigation, a more comprehensive understanding of the locking parameters involved in injecting multiple lasers into a multi-mode cavity and the logic transition time is achieved. The performance of optical logic computations and wavelength conversion has the potential for ultrafast operation, limited primarily by the photon decay rate in the slave laser.

  7. Modeling of absorption data complicated by Fabry endash Perot interference in germanosilicate thin-film waveguides

    International Nuclear Information System (INIS)

    Simmons-Potter, K.; Simmons, J.H.

    1996-01-01

    Complex absorption spectra obtained from thin films at normal incidence can be difficult to interpret owing to the appearance of Fabry endash Perot interference fringes in the data. We describe a technique for modeling such spectra so that true absorption features can be identified and evaluated separately from the overlying fringes. The technique is used to interpret data obtained from photosensitive germanosilicate solgel films on fused-silica substrates but may be easily extended to analysis in other material systems. copyright 1996 Optical Society of America

  8. Application of Fabry-Perot velocimeter to high-speed experiments

    International Nuclear Information System (INIS)

    Chaw, H.H.; McMillan, C.F.; Osher, J.E.

    1988-01-01

    The Fabry-Perot (F-P) velocimeter is a useful instrument for measuring the velocity of objects at speeds ranging from fractions of a kilometer per second to a few tens of kilometers per second and up. Because of its immunity to electromagnetic interference and its velocity resolution, it has become the prime diagnostic tool in our electric-gun facility. Examples of its application to high speed experiments are discussed, including: electric-gun flyer studies, spallation of materials under high-speed impact, momentum-transfer studies, pressure pulse created by high-velocity impact, and detonation-wave studies in high-explosive experiments

  9. Fiber Fabry-Perot sensors for detection of partial discharges in power transformers.

    Science.gov (United States)

    Yu, Bing; Kim, Dae Woong; Deng, Jiangdong; Xiao, Hai; Wang, Anbo

    2003-06-01

    A diaphragm-based interferometric fiberoptic sensor that uses a low-coherence light source was designed and tested for on-line detection of the acoustic waves generated by partial discharges inside high-voltage power transformers. The sensor uses a fused-silica diaphragm and a single-mode optical fiber encapsulated in a fused-silica glass tube to form an extrinsic Fabry-Perot interferometer, which is interrogated by low-coherence light. Test results indicate that these fiber optic acoustic sensors are capable of faithfully detecting acoustic signals propagating inside transformer oil with high sensitivity and wide bandwidth.

  10. Construction of an optical semiconductor amplifier starting from a Fabry-Perot semiconductor laser

    International Nuclear Information System (INIS)

    Garcia, E.; Soto, H.; Marquez, H.; Valles V, N.

    2000-01-01

    A methodology to convert a semiconductor laser Fabry-Perot (SL-FP) in a semiconductor optical amplifier (SOA) is presented. In order to suppress the cavity resonant an optical thin film coating was deposited on the facets of the SL-FP. The experiment was carried out putting on service a new monitoring technique that consist in the observation of the laser power spectrum during the antireflection coatings deposition. This allows to determine the moment were the facets reflectivity is minimum. The SOA obtained was characterized for different polarization currents. (Author)

  11. Electrically tunable Fabry-Péerot resonator based on microstructured Si containing liquid crystal

    KAUST Repository

    Tolmachev, Vladimir A.; Melnikov, Vasily; Baldycheva, Anna V.; Berwick, Kevin; Perova, Tatiana S.

    2012-01-01

    We have built Fabry-Perot resonators based on microstructured silicon and a liquid crystal. The devices exhibit tuning of the resonance peaks over a wide range, with relative spectral shifts of up to Delta lambda/lambda = 10%. In order to achieve this substantial spectral shift, cavity peaks of high order were used. Under applied voltages of up to 15 V, a variation in the refractive index of the nematic liquid crystal E7 from Delta n(LC) = 0.12 to Delta n(LC) = 0.17 was observed. These results may have practical applications in the near-, mid and far-infrared range.

  12. Distributed dual-parameter optical fiber sensor based on cascaded microfiber Fabry-Pérot interferometers

    Science.gov (United States)

    Xiang, Yang; Luo, Yiyang; Zhang, Wei; Liu, Deming; Sun, Qizhen

    2017-04-01

    We propose and demonstrate a distributed fiber sensor based on cascaded microfiber Fabry-Perot interferometers (MFPI) for simultaneous refractive index (SRI) and temperature measurement. By employing MFPI which is fabricated by taper-drawing the center of a uniform fiber Bragg grating (FBG) on standard fiber into a section of microfiber, dual parameters including SRI and temperature can be detected through demodulating the reflection spectrum of the MFPI. Further, wavelength-division-multiplexing (WDM) is applied to realize distributed dual-parameter fiber sensor by using cascaded MFPIs with different Bragg wavelengths. A prototype sensor system with 5 cascaded MFPIs is constructed to experimentally demonstrate the sensing performance.

  13. The low frequency facility Fabry-Perot cavity used as a speed-meter

    Energy Technology Data Exchange (ETDEWEB)

    Di Virgilio, A.; Braccini, S.; Ballardin, G.; Bradaschia, C.; Cella, G.; Cuoco, E.; Dattilo, V.; Fazzi, M.; Ferrante, I.; Fidecaro, F.; Frasconi, F.; Giazotto, A.; Gennai, A.; Holloway, L.H.; La Penna, P.; Lomtadze, T.; Losurdo, G.; Passaquieti, R.; Passuello, D.; Poggiani, R.; Porzio, A.; Puppo, P.; Raffaelli, F.; Rapagnani, P.; Ricci, F.; Ricciardi, I.; Solimeno, S.; Stanga, R.; Vetrano, F.; Zhou, Z

    2003-09-15

    Fabry-Perot cavities have many different applications as scientific instruments. In the gravitational waves research field they are extensively used to frequency stabilize lasers and to measure very small distance variations. In the present Letter a method to evaluate from the transmitted power only the relative speed and position of the mirrors of a cavity, having finesse F>40, is described. A displacement spectral sensitivity of the order of about 3x10{sup -10} m/Hz{sup -1/2} at 10 Hz is obtained with the cavity of the low frequency facility.

  14. Show-Bix &

    DEFF Research Database (Denmark)

    2014-01-01

    The anti-reenactment 'Show-Bix &' consists of 5 dias projectors, a dial phone, quintophonic sound, and interactive elements. A responsive interface will enable the Dias projectors to show copies of original dias slides from the Show-Bix piece ”March på Stedet”, 265 images in total. The copies are...

  15. Hypersonic force measurements using internal balance based on optical micromachined Fabry-Perot interferometry

    Science.gov (United States)

    Qiu, Huacheng; Min, Fu; Zhong, Shaolong; Song, Xin; Yang, Yanguang

    2018-03-01

    Force measurements using wind tunnel balance are necessary for determining a variety of aerodynamic performance parameters, while the harsh environment in hypersonic flows requires that the measurement instrument should be reliable and robust, in against strong electromagnetic interference, high vacuum, or metal (oxide) dusts. In this paper, we demonstrated a three-component internal balance for hypersonic aerodynamic force measurements, using novel optical micromachined Fabry-Perot interferometric (FPI) strain gauges as sensing elements. The FPI gauges were fabricated using Micro-Opto-Electro-Mechanical Systems (MOEMS) surface and bulk fabrication techniques. High-reflectivity coatings are used to form a high-finesse Fabry-Perot cavity, which benefits a high resolution. Antireflective and passivation coatings are used to reduce unwanted interferences. The FPI strain gauge based balance has been calibrated and evaluated in a Mach 5 hypersonic flow. The results are compared with the traditional technique using the foil resistive strain gauge balance, indicating that the proposed balance based on the MOEMS FPI strain gauge is reliable and robust and is potentially suitable for the hypersonic wind tunnel harsh environment.

  16. DISEASES

    DEFF Research Database (Denmark)

    Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi

    2015-01-01

    Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition...... of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should...... not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases...

  17. Lineshape Engineering in an All-Pass Ring Resonator with Backreflection Coupled to a Symmetrical Fabry-Perot Resonator

    KAUST Repository

    Melnikov, Vasily

    2012-11-10

    We derive transfer functions for an all-pass ring resonator with internal backreflection coupled to a symmetrical Fabry-Perot resonator and demonstrate electromagnetically induced transparency-like and Fano-like lineshapes tunable by backreflection in the ring resonator.

  18. The comparison of environmental effects on michelson and fabry-perot interferometers utilized for the displacement measurement.

    Science.gov (United States)

    Wang, Yung-Cheng; Shyu, Lih-Horng; Chang, Chung-Ping

    2010-01-01

    The optical structure of general commercial interferometers, e.g., the Michelson interferometers, is based on a non-common optical path. Such interferometers suffer from environmental effects because of the different phase changes induced in different optical paths and consequently the measurement precision will be significantly influenced by tiny variations of the environmental conditions. Fabry-Perot interferometers, which feature common optical paths, are insensitive to environmental disturbances. That would be advantageous for precision displacement measurements under ordinary environmental conditions. To verify and analyze this influence, displacement measurements with the two types of interferometers, i.e., a self-fabricated Fabry-Perot interferometer and a commercial Michelson interferometer, have been performed and compared under various environmental disturbance scenarios. Under several test conditions, the self-fabricated Fabry-Perot interferometer was obviously less sensitive to environmental disturbances than a commercial Michelson interferometer. Experimental results have shown that induced errors from environmental disturbances in a Fabry-Perot interferometer are one fifth of those in a Michelson interferometer. This has proved that an interferometer with the common optical path structure will be much more independent of environmental disturbances than those with a non-common optical path structure. It would be beneficial for the solution of interferometers utilized for precision displacement measurements in ordinary measurement environments.

  19. Lineshape Engineering in an All-Pass Ring Resonator with Backreflection Coupled to a Symmetrical Fabry-Perot Resonator

    KAUST Repository

    Melnikov, Vasily; Roqan, Iman S.

    2012-01-01

    We derive transfer functions for an all-pass ring resonator with internal backreflection coupled to a symmetrical Fabry-Perot resonator and demonstrate electromagnetically induced transparency-like and Fano-like lineshapes tunable by backreflection in the ring resonator.

  20. A THz plasmonics perfect absorber and Fabry-Perot cavity mechanism (Conference Presentation)

    Science.gov (United States)

    Zhou, Jiangfeng; Bhattarai, Khagendra; Silva, Sinhara; Jeon, Jiyeon; Kim, Junoh; Lee, Sang Jun; Ku, Zahyun

    2016-10-01

    The plasmonic metamaterial perfect absorber (MPA) is a recently developed branch of metamaterial which exhibits nearly unity absorption within certain frequency range.[1-6] The optically thin MPA possesses characteristic features of angular-independence, high Q-factor and strong field localization that have inspired a wide range of applications including electromagnetic wave absorption,[3, 7, 8] spatial[6] and spectral[5] modulation of light,[9] selective thermal emission,[9] thermal detecting[10] and refractive index sensing for gas[11] and liquid[12, 13] targets. In this work, we demonstrate a MPA working at terahertz (THz) regime and characterize it using an ultrafast THz time-domain spectroscopy (THz-TDS). Our study reveal an ultra-thin Fabry-Perot cavity mechanism compared to the impedance matching mechanism widely adopted in previous study [1-6]. Our results also shows higher-order resonances when the cavities length increases. These higher order modes exhibits much larger Q-factor that can benefit potential sensing and imaging applications. [1] C. M. Watts, X. L. Liu, and W. J. Padilla, "Metamaterial Electromagnetic Wave Absorbers," Advanced Materials, vol. 24, pp. 98-120, Jun 19 2012. [2] M. Hedayati, F. Faupel, and M. Elbahri, "Review of Plasmonic Nanocomposite Metamaterial Absorber," Materials, vol. 7, pp. 1221-1248, 2014. [3] N. I. Landy, S. Sajuyigbe, J. J. Mock, D. R. Smith, and W. J. Padilla, "Perfect metamaterial absorber," Physical Review Letters, vol. 100, p. 207402, May 23 2008. [4] H. R. Seren, G. R. Keiser, L. Cao, J. Zhang, A. C. Strikwerda, K. Fan, et al., "Optically Modulated Multiband Terahertz Perfect Absorber," Advanced Optical Materials, vol. 2, pp. 1221-1226, 2014. [5] D. Shrekenhamer, J. Montoya, S. Krishna, and W. J. Padilla, "Four-Color Metamaterial Absorber THz Spatial Light Modulator," Advanced Optical Materials, vol. 1, pp. 905-909, 2013. [6] S. Savo, D. Shrekenhamer, and W. J. Padilla, "Liquid Crystal Metamaterial Absorber Spatial

  1. A variant form of the human deleted in malignant brain tumor 1 (DMBT1 gene shows increased expression in inflammatory bowel diseases and interacts with dimeric trefoil factor 3 (TFF3.

    Directory of Open Access Journals (Sweden)

    Jens Madsen

    Full Text Available The protein deleted in malignant brain tumors (DMBT1 and the trefoil factor (TFF proteins have all been proposed to have roles in epithelial cell growth and cell differentiation and shown to be up regulated in inflammatory bowel diseases. A panel of monoclonal antibodies was raised against human DMBT1(gp340. Analysis of lung washings and colon tissue extracts by Western blotting in the unreduced state, two antibodies (Hyb213-1 and Hyb213-6 reacted with a double band of 290 kDa in lung lavage. Hyb213-6, in addition, reacted against a double band of 270 kDa in colon extract while Hyb213-1 showed no reaction. Hyb213-6 showed strong cytoplasmic staining in epithelial cells of both the small and large intestine whereas no staining was seen with Hyb213-1. The number of DMBT1(gp340 positive epithelial cells, stained with Hyb213-6, was significantly up regulated in inflammatory colon tissue sections from patients with ulcerative colitis (p<0.0001 and Crohn's disease (p = 0.006 compared to normal colon tissue. Immunohistochemical analysis of trefoil factor TFF1, 2 and 3 showed that TFF1 and 3 localized to goblet cells in both normal colon tissue and in tissue from patients with ulcerative colitis or Crohn's disease. No staining for TFF2 was seen in goblet cells in normal colon tissue whereas the majority of tissue sections in ulcerative colitis and Crohn's disease showed sparse and scattered TFF2 positive goblet cells. DMBT1 and TFF proteins did therefore not co-localize in the same cells but localized in adjacent cells in the colon. The interaction between DMBT1(gp340 and trefoil TFFs proteins was investigated using an ELISA assay. DMBT1(gp340 bound to solid-phase bound recombinant dimeric TFF3 in a calcium dependent manner (p<0.0001 but did not bind to recombinant forms of monomeric TFF3, TFF2 or glycosylated TFF2. This implies a role for DMBT1 and TFF3 together in inflammatory bowel disease.

  2. Talking with TV shows

    DEFF Research Database (Denmark)

    Sandvik, Kjetil; Laursen, Ditte

    2014-01-01

    User interaction with radio and television programmes is not a new thing. However, with new cross-media production concepts such as X Factor and Voice, this is changing dramatically. The second-screen logic of these productions encourages viewers, along with TV’s traditional one-way communication...... mode, to communicate on interactive (dialogue-enabling) devices such as laptops, smartphones and tablets. Using the TV show Voice as our example, this article shows how the technological and situational set-up of the production invites viewers to engage in new ways of interaction and communication...

  3. Stratospheric temperature measurement with scanning Fabry-Perot interferometer for wind retrieval from mobile Rayleigh Doppler lidar.

    Science.gov (United States)

    Xia, Haiyun; Dou, Xiankang; Shangguan, Mingjia; Zhao, Ruocan; Sun, Dongsong; Wang, Chong; Qiu, Jiawei; Shu, Zhifeng; Xue, Xianghui; Han, Yuli; Han, Yan

    2014-09-08

    Temperature detection remains challenging in the low stratosphere, where the Rayleigh integration lidar is perturbed by aerosol contamination and ozone absorption while the rotational Raman lidar is suffered from its low scattering cross section. To correct the impacts of temperature on the Rayleigh Doppler lidar, a high spectral resolution lidar (HSRL) based on cavity scanning Fabry-Perot Interferometer (FPI) is developed. By considering the effect of the laser spectral width, Doppler broadening of the molecular backscatter, divergence of the light beam and mirror defects of the FPI, a well-behaved transmission function is proved to show the principle of HSRL in detail. Analysis of the statistical error of the HSRL is carried out in the data processing. A temperature lidar using both HSRL and Rayleigh integration techniques is incorporated into the Rayleigh Doppler wind lidar. Simultaneous wind and temperature detection is carried out based on the combined system at Delhi (37.371°N, 97.374°E; 2850 m above the sea level) in Qinghai province, China. Lower Stratosphere temperature has been measured using HSRL between 18 and 50 km with temporal resolution of 2000 seconds. The statistical error of the derived temperatures is between 0.2 and 9.2 K. The temperature profile retrieved from the HSRL and wind profile from the Rayleigh Doppler lidar show good agreement with the radiosonde data. Specifically, the max temperature deviation between the HSRL and radiosonde is 4.7 K from 18 km to 36 km, and it is 2.7 K between the HSRL and Rayleigh integration lidar from 27 km to 34 km.

  4. Talk Show Science.

    Science.gov (United States)

    Moore, Mitzi Ruth

    1992-01-01

    Proposes having students perform skits in which they play the roles of the science concepts they are trying to understand. Provides the dialog for a skit in which hot and cold gas molecules are interviewed on a talk show to study how these properties affect wind, rain, and other weather phenomena. (MDH)

  5. Honored Teacher Shows Commitment.

    Science.gov (United States)

    Ratte, Kathy

    1987-01-01

    Part of the acceptance speech of the 1985 National Council for the Social Studies Teacher of the Year, this article describes the censorship experience of this honored social studies teacher. The incident involved the showing of a videotape version of the feature film entitled "The Seduction of Joe Tynan." (JDH)

  6. The energy show

    International Nuclear Information System (INIS)

    1988-01-01

    The Energy Show is a new look at the problems of world energy, where our supplies come from, now and in the future. The programme looks at how we need energy to maintain our standards of living. Energy supply is shown as the complicated set of problems it is - that Fossil Fuels are both raw materials and energy sources, that some 'alternatives' so readily suggested as practical options are in reality a long way from being effective. (author)

  7. Nanometer-scale displacement measurement with high resolution using dual cavity Fabry-Pérot interferometer for biomimetic robots.

    Science.gov (United States)

    Lee, Jin-Hyuk; Kim, Dae-Hyun

    2014-10-01

    A sensor of a biomimetic robot has to measure very small environmental changes such as, nanometer scale strains or displacements. Fiber optic sensor can be also one of candidates for the biomimetic sensor because the sensor is like thread and the shape of the sensor is similar to muscle fiber. A fiber optic interferometer, which is an optical-based sensor, can measure displacement precisely, so such device has been widely studied for the measurement of displacement on a nanometer-scale. Especially, a Quadrature Phase-Shifted Fiber Fabry-Pérot interferometer (QPS-FFPI) uses phase-information for this measurement, allowing it to provide a precision result with high resolution. In theory, the QPS-FFPI generates two sinusoidal signals of which the phase difference should be 90 degrees for the exact measurement of the displacement. In order to guarantee the condition of the phase difference, the relative adjustment of the cavities of the optical fibers is required. However, with such precise adjustment it is very hard to fix the proper difference of the two cavities for quadrature-phase-shifting. In this paper, a dual-cavity FFPI is newly proposed to measure the displacement on a nanometer-scale with a specific type of signal processing. In the signal processing, a novel phase-compensation algorithm is applied to force the phase difference to be exactly 90 degrees without any physical adjustment. As a result, the paper shows that the phase-compensated dual-cavity FFPI can effectively measure nanometer-scale displacement with high resolution under dynamic conditions.

  8. Showing Value (Editorial

    Directory of Open Access Journals (Sweden)

    Denise Koufogiannakis

    2009-06-01

    Full Text Available When Su Cleyle and I first decided to start Evidence Based Library and Information Practice, one of the things we agreed upon immediately was that the journal be open access. We knew that a major obstacle to librarians using the research literature was that they did not have access to the research literature. Although Su and I are both academic librarians who can access a wide variety of library and information literature from our institutions, we belong to a profession where not everyone has equal access to the research in our field. Without such access to our own body of literature, how can we ever hope for practitioners to use research evidence in their decision making? It would have been contradictory to the principles of evidence based library and information practice to do otherwise.One of the specific groups we thought could use such an open access venue for discovering research literature was school librarians. School librarians are often isolated and lacking access to the research literature that may help them prove to stakeholders the importance of their libraries and their role within schools. Certainly, school libraries have been in decline and the use of evidence to show value is needed. As Ken Haycock noted in his 2003 report, The Crisis in Canada’s School Libraries: The Case for Reform and Reinvestment, “Across the country, teacher-librarians are losing their jobs or being reassigned. Collections are becoming depleted owing to budget cuts. Some principals believe that in the age of the Internet and the classroom workstation, the school library is an artifact” (9. Within this context, school librarians are looking to our research literature for evidence of the impact that school library programs have on learning outcomes and student success. They are integrating that evidence into their practice, and reflecting upon what can be improved locally. They are focusing on students and showing the impact of school libraries and

  9. Readout of micromechanical cantilever sensor arrays by Fabry-Perot interferometry

    International Nuclear Information System (INIS)

    Wehrmeister, Jana; Fuss, Achim; Saurenbach, Frank; Berger, Ruediger; Helm, Mark

    2007-01-01

    The increasing use of micromechanical cantilevers in sensing applications causes a need for reliable readout techniques of micromechanical cantilever sensor (MCS) bending. Current optical beam deflection techniques suffer from drawbacks such as artifacts due to changes in the refraction index upon exchange of media. Here, an adaptation of the Fabry-Perot interferometer is presented that allows simultaneous determination of MCS bending and changes in the refraction index of media. Calibration of the instrument with liquids of known refraction index provides an avenue to direct measurement of bending with nanometer precision. Versatile construction of flow cells in combination with alignment features for substrate chips allows simultaneous measurement of two MCS situated either on the same, or on two different support chips. The performance of the instrument is demonstrate in several sensing applications, including adsorption experiments of alkanethioles on MCS gold surfaces, and measurement of humidity changes in air

  10. Enhanced Bulk-Edge Coulomb Coupling in Fractional Fabry-Perot Interferometers.

    Science.gov (United States)

    von Keyserlingk, C W; Simon, S H; Rosenow, Bernd

    2015-09-18

    Recent experiments use Fabry-Perot (FP) interferometry to claim that the ν=5/2 quantum Hall state exhibits non-Abelian topological order. We note that the experiments appear inconsistent with a model neglecting bulk-edge Coulomb coupling and Majorana tunneling, so we reexamine the theory of FP devices. Even a moderate Coulomb coupling may strongly affect some fractional plateaus, but very weakly affect others, allowing us to model the data over a wide range of plateaus. While experiments are consistent with the ν=5/2 state harboring Moore-Read topological order, they may have measured Coulomb effects rather than an "even-odd effect" due to non-Abelian braiding.

  11. Advanced Interrogation of Fiber-Optic Bragg Grating and Fabry-Perot Sensors with KLT Analysis

    Science.gov (United States)

    Tosi, Daniele

    2015-01-01

    The Karhunen-Loeve Transform (KLT) is applied to accurate detection of optical fiber sensors in the spectral domain. By processing an optical spectrum, although coarsely sampled, through the KLT, and subsequently processing the obtained eigenvalues, it is possible to decode a plurality of optical sensor results. The KLT returns higher accuracy than other demodulation techniques, despite coarse sampling, and exhibits higher resilience to noise. Three case studies of KLT-based processing are presented, representing most of the current challenges in optical fiber sensing: (1) demodulation of individual sensors, such as Fiber Bragg Gratings (FBGs) and Fabry-Perot Interferometers (FPIs); (2) demodulation of dual (FBG/FPI) sensors; (3) application of reverse KLT to isolate different sensors operating on the same spectrum. A simulative outline is provided to demonstrate the KLT operation and estimate performance; a brief experimental section is also provided to validate accurate FBG and FPI decoding. PMID:26528975

  12. Optical cascaded Fabry-Perot interferometer hydrogen sensor based on vernier effect

    Science.gov (United States)

    Li, Yina; Zhao, Chunliu; Xu, Ben; Wang, Dongning; Yang, Minghong

    2018-05-01

    An optical cascaded Fabry-Perot interferometer hydrogen sensor based on vernier effect has been proposed and achieved. The proposed sensor, which total length is ∼594 μm, is composed of a segment of large mode area fiber (LMAF) and a segment of hollow-core fiber (HCF). The proposed sensor is coated with the Pt-loaded WO3/SiO2 powder which will result in the increase of local temperature of the sensor head when exposed to hydrogen atmosphere. Thus the hydrogen sensor can be achieved by monitoring the change of resonant envelope wavelength. The hydrogen sensitivity is -1.04 nm/% within the range of 0 % -2.4 % which is greatly improved because of the vernier effect. The response time is ∼80 s. Due to its compact configuration, the proposed sensor provides a feasible and miniature structure to achieve detection of hydrogen.

  13. Fabry-Perot Interferometry in the Integer and Fractional Quantum Hall Regimes

    Science.gov (United States)

    McClure, Douglas; Chang, Willy; Kou, Angela; Marcus, Charles; Pfeiffer, Loren; West, Ken

    2011-03-01

    We present measurements of electronic Fabry-Perot interferometers in the integer and fractional quantum Hall regimes. Two classes of resistance oscillations may be seen as a function of magnetic field and gate voltage, as we have previously reported. In small interferometers in the integer regime, oscillations of the type associated with Coulomb interaction are ubiquitous, while those consistent with single-particle Aharonov-Bohm interference are seen to co-exist in some configurations. The amplitude scaling of both types with temperature and device size is consistent with a theoretical model. Oscillations are further observed in the fractional quantum Hall regime. Here the dependence of the period on the filling factors in the constrictions and bulk of the interferometer can shed light on the effective charge of the interfering quasiparticles, but care is needed to distinguish these oscillations from those associated with integer quantum Hall states. We acknowledge funding from Microsoft Project Q and IBM.

  14. A highly directive graphene antenna embedded inside a Fabry-Perot cavity in terahertz regime

    Science.gov (United States)

    Roshanaei, Majid; Karami, Hamidreza; Dehkhoda, Parisa; Esfahani, Hamid; Dabir, Fatemeh

    2018-05-01

    In this paper, a highly directive nano-thickness graphene-based antenna is introduced in the terahertz frequency band. The antenna is a graphene patch dipole which is placed between two Bragg mirrors called Fabry-Perot cavity. Tunability of the graphene's conductivity makes it possible to excite the desired resonances of the cavity. Here, first, a single resonant antenna is introduced at 5 THz with an enhanced gain from 2.11 dBi to 12.8 dBi with a beamwidth of 22.7°. Then, a triple resonant antenna at 4.7, 5 and 5.3 THz is presented with respective gains of 7.97, 11.9 and 8.52 dBi. Finally, the effect of dimensions and number of the dielectric layers of the cavity are studied in order to further increase in directivity.

  15. A new detection method used to calibrate Fabry-Perot interferometers in the infrared range

    International Nuclear Information System (INIS)

    Talvard, M.; Javon, C.; Garcin, M.; Thouvenin, D.

    1993-06-01

    Fabry-Perot interferometers are routinely used in the Tore Supra Tokamak in order to measure the time evolution of the electron temperature of the confined plasmas. Calibration of such interferometers requires the detection of very low DC levels (0.1 nV) with signal-to-noise ratios less than 10 -5 , which is generally not compatible with standard detection methods. A new correlation method to achieve this absolute calibration is proposed. It is based on a proper noise auto-correlation technique combined with an optimized signal filtering involving Fourier analysis. The advantages of the method are detailed and experimentally compared to standard averaging techniques, such as coherent addition and synchronous detection. The method can be used in a more general context every time very small amplitude signals are to be measured

  16. Peter Paul Rubens, Nicolas-Claude Fabri de Peiresc and Joan of Arc

    Directory of Open Access Journals (Sweden)

    Borusowski Piotr

    2015-11-01

    Full Text Available In 2011 a discovery was made at the Department of Prints and Drawings of the National Museum in Warsaw - a drawing hitherto described as a Kneeling knight by an anonymous seventeenth-century artist, turned out to be Joan of Arc, a sketch well-known to art historians studying the oeuvre of Peter Paul Rubens, although thought to be lost during the Second World War. The drawing, until now known only through the black and white photograph, could be thoroughly analysed for the first time. In the context of information thus obtained, the historical context of creating the sketch transpired as an equally important matter, including the hypothetical role that may have been played in its creation by Nicolas-Claude Fabri de Peiresc.

  17. Fabry-Perot interferometry using an image-intensified rotating-mirror streak camera

    International Nuclear Information System (INIS)

    Seitz, W.L.; Stacy, H.L.

    1983-01-01

    A Fabry-Perot velocity interferometer system is described that uses a modified rotating mirror streak camera to recrod the dynamic fringe positions. A Los Alamos Model 72B rotating-mirror streak camera, equipped with a beryllium mirror, was modified to include a high aperture (f/2.5) relay lens and a 40-mm image-intensifier tube such that the image normally formed at the film plane of the streak camera is projected onto the intensifier tube. Fringe records for thin (0.13 mm) flyers driven by a small bridgewire detonator obtained with a Model C1155-01 Hamamatsu and Model 790 Imacon electronic streak cameras are compared with those obtained with the image-intensified rotating-mirror streak camera (I 2 RMC). Resolution comparisons indicate that the I 2 RMC gives better time resolution than either the Hamamatsu or the Imacon for total writing times of a few microseconds or longer

  18. Performance of a 1200 m long suspended Fabry-Perot cavity

    CERN Document Server

    Freise, A; Gossler, S; Grote, H; Heinzel, G; Lück, H B; Robertson, D I; Strain, K A; Ward, H; Willke, B; Hough, J; Danzmann, K

    2002-01-01

    Using one arm of the Michelson interferometer and the power recycling mirror of the interferometric gravitational wave detector GEO 600, we created a Fabry-Perot cavity with a length of 1200 m. The main purpose of this experiment was to gather first experience with the main optics, its suspensions and the corresponding control systems. The residual displacement of a main mirror is about 150 nm rms. By stabilizing the length of the 1200 m long cavity to the pre-stabilized laser beam, we achieved an error point frequency noise of 100 mu Hz Hz sup - sup 1 sup / sup 2 at 100 Hz Fourier frequency. In addition we demonstrated the reliable performance of all included subsystems by several 10-hour-periods of continuous stable operation. Thus the full frequency stabilization scheme for GEO 600 was successfully tested.

  19. Multimode fiber tip Fabry-Perot cavity for highly sensitive pressure measurement.

    Science.gov (United States)

    Chen, W P; Wang, D N; Xu, Ben; Zhao, C L; Chen, H F

    2017-03-23

    We demonstrate an optical Fabry-Perot interferometer fiber tip sensor based on an etched end of multimode fiber filled with ultraviolet adhesive. The fiber device is miniature (with diameter of less than 60 μm), robust and low cost, in a convenient reflection mode of operation, and has a very high gas pressure sensitivity of -40.94 nm/MPa, a large temperature sensitivity of 213 pm/°C within the range from 55 to 85 °C, and a relatively low temperature cross-sensitivity of 5.2 kPa/°C. This device has a high potential in monitoring environment of high pressure.

  20. Múltiples quistes parapiélicos en la enfermedad de Fabry

    Directory of Open Access Journals (Sweden)

    María A. Azancot

    2016-05-01

    Presentamos un caso de un paciente varón afecto de la enfermedad de Fabry, que presentaba múltiples quistes parapiélicos e insuficiencia renal, sin presentar angioqueratomas. El estudio genético mostró una mutación en el gen de alfa-GLA A que no ha sido descrita previamente en el registro de mutaciones, y de novo, ya que no se encontró en otros familiares, además que no fue trasmitida a la descendencia. La presencia de múltiples quistes parapiélicos y su peculiar aspecto fue lo que hizo sospechar el diagnóstico de la enfermedad.

  1. The PVLAS experiment: measuring vacuum magnetic birefringence and dichroism with a birefringent Fabry-Perot cavity

    Energy Technology Data Exchange (ETDEWEB)

    Della Valle, Federico; Milotti, Edoardo [INFN, Trieste (Italy); Universita di Trieste, Dipt. di Fisica, Trieste (Italy); Ejlli, Aldo; Messineo, Giuseppe; Zavattini, Guido [INFN, Ferrara (Italy); Universita di Ferrara, Dipt. di Fisica e Scienze della Terra, Ferrara (Italy); Gastaldi, Ugo [INFN, Ferrara (Italy); Pengo, Ruggero; Ruoso, Giuseppe [INFN, Lab. Nazionale di Legnaro, Legnaro (Italy)

    2016-01-15

    Vacuum magnetic birefringence was predicted long time ago and is still lacking a direct experimental confirmation. Several experimental efforts are striving to reach this goal, and the sequence of results promises a success in the next few years. This measurement generally is accompanied by the search for hypothetical light particles that couple to two photons. The PVLAS experiment employs a sensitive polarimeter based on a high finesse Fabry-Perot cavity. In this paper we report on the latest experimental results of this experiment. The data are analysed taking into account the intrinsic birefringence of the dielectric mirrors of the cavity. Besides a new limit on the vacuum magnetic birefringence, the measurements also allow the model-independent exclusion of new regions in the parameter space of axion-like and milli-charged particles. In particular, these last limits hold also for all types of neutrinos, resulting in a laboratory limit on their charge. (orig.)

  2. Faraday-Active Fabry-Perot Resonator: Transmission, Reflection, and Emissivity

    Science.gov (United States)

    Liptuga, Anatoliy; Morozhenko, Vasyl; Pipa, Viktor; Venger, Evgen; Kostiuk, Theodor

    2011-01-01

    The propagation of light within a semiconductor Faraday-active Fabry-Perot resonator (FAFR) is investigated theoretically and experimentally. It is shown that an external magnetic field radically changes the angular and spectral characteristics of transmission, reflection and emissivity of the resonator not only for polarized, but also for unpolarized light. Suppression of interference patterns and phase inversion of the interference extrema were observed in both monochromatic and polychromatic light. The investigations were carried out for the plane-parallel plates of n-InAs in the spectral range of free charge carrier absorption. The results can be used to create new controllable optical and spectroscopic devices for investigation of Faraday-active material properties and for control of parameters of plane-parallel layers and structures.

  3. Simultaneous wavelength and orbital angular momentum demultiplexing using tunable MEMS-based Fabry-Perot filter

    DEFF Research Database (Denmark)

    Lyubopytov, Vladimir; Porfirev, Alexey P.; Gurbatov, Stanislav O.

    2017-01-01

    In this paper, we experimentally demonstrate simultaneous wavelength and orbital angular momentum (OAM) multiplexing/demultiplexing of 10 Gbit/s data streams using a new on-chip micro-component-tunable MEMS-based Fabry-Perot filter integrated with a spiral phase plate. In the experiment, two......, maximum power penalties at the HD-FEC BER threshold relative to the 0.8 nm wavelength spacing read 0.83, 0.84 and 1.15 dB when multiplexing a Gaussian beam and OAM beams of 1st, 2nd and 3rd orders respectively. The novelty and impact of the proposed filter design is in providing practical, integrable...

  4. A fully computerized multi-pass Fabry-Perot interferometer for Rayleigh-Brillouin scattering experiments

    International Nuclear Information System (INIS)

    Bohidar, H.; Berland, T.; Boger, F.; Joessang, T.; Feder, J.

    1987-01-01

    The development of a Multipass Fabry-Perot interforometer assembly for use in Rayleigh-Brillouin scattering experiments is reported. The optical alignment and the scattered signal data acquisition have been completely computerized. Digital scanning and alignment strategies of the Fabry-Perot resonator have been incorporated, which makes this instrument quite unique in this respect. The high contrast (∼10 10 ) and finesse (∼50) offered by this instrument makes it possible to detect Brillouin peaks from samples that have a small Brillouin scattering cross-section. As part of this system a compatible and precision sample chamber has been constructed, which has been designed to operate in the pressure and temperature ranges of 1-1000B and 20-150 o C, respectively. The cell has been constructed to be small and compact, but it still has a large heat capacity (∼250J/K) which ensures easy and stable temperature control of the liquid sample volume which has a size of 40 mm 3 . The achievable temperature stability is +-1mK and +-2mK for operating temperatures below and above 100 o C, respectively. The pressure stability is in the range of +-0.05B of the set pressure for pressures below 100B and it is +-0.05% for higher pressures up to 1000B. Both pressure and temperature are remotely monitored and controlled by a ND/100 computer. Special care has been taken in designing the optics of the pressure cell to ensure that both the primary and secondary reflections from the entrance window, as well as the main beam, go out of the scattering region in order to achieve higher signal-to-noise ratio in actual experiments

  5. Luminosity optimization schemes in Compton experiments based on Fabry-Perot optical resonators

    Directory of Open Access Journals (Sweden)

    Alessandro Variola

    2011-03-01

    Full Text Available The luminosity of Compton x-ray and γ sources depends on the average current in electron bunches, the energy of the laser pulses, and the geometry of the particle bunch to laser pulse collisions. To obtain high power photon pulses, these can be stacked in a passive optical resonator (Fabry-Perot cavity especially when a high average flux is required. But, in this case, owing to the presence of the optical cavity mirrors, the electron bunches have to collide at an angle with the laser pulses with a consequent luminosity decrease. In this article a crab-crossing scheme is proposed for Compton sources, based on a laser amplified in a Fabry-Perot resonator, to eliminate the luminosity losses given by the crossing angle, taking into account that in laser-electron collisions only the electron bunches can be tilted at the collision point. We report the analytical study on the crab-crossing scheme for Compton gamma sources. The analytical expression for the total yield of photons generated in Compton sources with the crab-crossing scheme of collision is derived. The optimal collision angle of the bunch was found to be equal to half of the collision angle. At this crabbing angle, the maximal yield of scattered off laser photons is attained thanks to the maximization, in the collision process, of the time spent by the laser pulse in the electron bunch. Estimations for some Compton source projects are presented. Furthermore, some schemes of the optical cavities configuration are analyzed and the luminosity calculated. As illustrated, the four-mirror two- or three-dimensional scheme is the most appropriate for Compton sources.

  6. Microwave radiometric aircraft observations of the Fabry-Perot interference fringes of an ice-water system

    Science.gov (United States)

    Harrington, R. F.; Swift, C. T.; Fedors, J. C.

    1980-01-01

    Airborne stepped-frequency microwave radiometer (SFMR) observations of the Fabry-Perot interference fringes of ice-water systems are discussed. The microwave emissivity at normal incidence of a smooth layered dielectric medium over a semi-infinite dielectric medium is examined for the case of ice over water as a function of ice thickness and attenuation coefficient, and the presence of quarter-wavelength oscillations in emissivity as the ice thickness and frequency are varied is pointed out. Experimental observations of pronounced quarter-wavelength oscillations in radiometric brightness temperature due to the Fabry-Perot interference fringes over smooth sea ice and lake ice varying in roughness as the radiometer frequencies were scanned are then presented.

  7. Optical power equalization for upstream traffic with injection-locked Fabry-Perot lasers in TDM-PON

    Science.gov (United States)

    Huang, Ting-Tsan; Sheu, Lih-Gen; Chi, Sien

    2010-10-01

    An optical power equalization of upstream traffic in time-division-multiplexed passive optical network (TDM-PON) based on injection-locked Fabry-Perot lasers has been experimentally investigated. The upstream transmitters with stable spectrum are achieved by using an external injection light source in the optical line terminal (OLT). The different upstream powers can be equalized by injection locking a Fabry-Perot laser diode (FP-LD) biased below threshold current in OLT. The dynamic upstream power range from - 8.5 to - 19.5 db m is reduced to a 1.6 dB maximal power variation, when the uplink signal is directly modulated at 1.25 Gb/s.

  8. Passive harmonic mode locking by mode selection in Fabry-Perot diode lasers with patterned effective index.

    Science.gov (United States)

    Bitauld, David; Osborne, Simon; O'Brien, Stephen

    2010-07-01

    We demonstrate passive harmonic mode locking of a quantum-well laser diode designed to support a discrete comb of Fabry-Perot modes. Spectral filtering of the mode spectrum was achieved using a nonperiodic patterning of the cavity effective index. By selecting six modes spaced at twice the fundamental mode spacing, near-transform-limited pulsed output with 2 ps pulse duration was obtained at a repetition rate of 100 GHz.

  9. A Fabry-Perot Interferometry Based MRI-Compatible Miniature Uniaxial Force Sensor for Percutaneous Needle Placement

    OpenAIRE

    Shang, Weijian; Su, Hao; Li, Gang; Furlong, Cosme; Fischer, Gregory S.

    2013-01-01

    Robot-assisted surgical procedures, taking advantage of the high soft tissue contrast and real-time imaging of magnetic resonance imaging (MRI), are developing rapidly. However, it is crucial to maintain tactile force feedback in MRI-guided needle-based procedures. This paper presents a Fabry-Perot interference (FPI) based system of an MRI-compatible fiber optic sensor which has been integrated into a piezoelectrically actuated robot for prostate cancer biopsy and brachytherapy in 3T MRI scan...

  10. Development of a saturated absorption spectroscopy setup at IGISOL for characterisation of Fabry-Pérot interferometers

    Energy Technology Data Exchange (ETDEWEB)

    Geldhof, S., E-mail: sarina.m.geldhof@jyu.fi; El Youbi, S.; Moore, I. D.; Pohjalainen, I. [University of Jyväskylä, Department of Physics (Finland); Sonnenschein, V.; Terabayashi, R. [Nagoya University, Department of Quantum Engineering (Japan); Voss, A. [University of Jyväskylä, Department of Physics (Finland)

    2017-11-15

    A saturated absorption spectroscopy setup was developed and optimised for the characterisation of a home-built and a commercial Fabry-Pérot interferometer (FPI). The free spectral range of these FPIs has been determined with reliable statistical and systematic errors. These FPIs will be used for accurate wavelength determination of broad- and narrowband pulsed Ti:sapphire lasers used in resonance ionisation spectroscopy experiments.

  11. Investigations into the myocardial metabolism of 123-I-ω-HDA in patients showing the clinical signs and symptoms of mitral valve prolapse and previously proven to have no coronary heart disease

    International Nuclear Information System (INIS)

    Voth, E.

    1987-01-01

    In 53 patients showing the clinical signs and symptoms of mitral valve prolapse (MVP) where coronary heart disease (CHD) had previously been excluded by angiography the myocardial metabolism of fatty acids was examined at rest using metabolic myocardial scintigraphy (MMS) and 123-I-ω-HDA as tracer substance. The results were correlated with those obtained by other methods of investigation (findings at rest and during exercise from ECG recordings, tests using a flow-guided catheter and radionuclide ventriculography, further from echocardiography as well as myocardial Tl redistribution scintiscanning during exercise). For purposes of reference, MMS was additionally carried out in twelve normal individuals subjected to coronary angiography to exclude both MVP and CHD. The results of this study would appear to suggest that the pathological findings revealed by myocardial Tl scintigraphy in patients showing symptoms of MVP cannot invariably be classified as 'false' but are at least to some extent attributable to impaired myocardial perfusion, vitality or metabolism. (orig./MG) [de

  12. Response of a New Low-Coherence Fabry-Perot Sensor to Hematocrit Levels in Human Blood

    Directory of Open Access Journals (Sweden)

    Małgorzata Jędrzejewska-Szczerska

    2014-04-01

    Full Text Available In this paper, a low-coherence Fabry-Perot sensor with a spectrally measured signal processing response to the refractive index of liquids is presented. Optical fiber sensors are potentially capable of continuous measuring hematocrit levels in blood. Low-coherence Fabry-Perot interferometric sensors offer a robust solution, where information about the measurand is encoded in the full spectrum of light reflected from the sensing interferometer. The first step in the research on such sensor is the assessment of its performance under favorable conditions, i.e., using blood samples from healthy volunteers tested in vitro. Such an experiment was conducted using a sensor comprising a superluminescent diode source, an optical spectrum analyzer working as the detection setup and a sensing Fabry-Perot interferometer providing high interference contrast. The response of this sensor was recorded for several samples and compared with the reference laboratory method. The coefficient of determination (R2 for a linear relationship between the results given by both methods was 0.978 and the difference between these results was less than 1%. The presented results suggest that further research into the performance of the sensor is merited.

  13. Equatorial thermospheric winds: New results using data from a network of three Fabry-Perot interferometers located in central Peru

    Science.gov (United States)

    Meriwether, J. W.; Dominquez, L. N.; Milla, M. A.; Chau, J. L.; Makela, J. J.; Fisher, D.

    2013-12-01

    A new observing strategy aimed at improving our understanding of the properties of the equatorial thermosphere wind field, such as the vorticity and divergence, has been developed to generate maps of the thermospheric wind field. Estimates of the neutral wind are obtained from measurements of the Doppler shift of the thermospheric 630.0-nm emission obtained from a sequence of eight evenly spaced azimuthal directions for each of the three Fabry-Perot interferometer (FPI) observatories located in central Peru (Jicamarca, Nazca, and Arequipa). Measurements towards the zenith and a frequency-stabilized laser reference are also included in each sequence, which takes ~25 minutes to complete. Six of the off-zenith observing directions from the Nazca FPI observatory are used to make common volume (CV) measurements, where two of the FPIs observe the same thermospheric volume with a centroid height of ~250 km at orthogonal angles. These CV positions are located ~225 km north and south of the Nazca FPI observatory. The data obtained during a coordinated observation of the two FPIs observing the same CV location are used to compute estimates of the zonal (u) and meridional (v) wind components. The set of Doppler shifts measured by the three FPIs during a single sequence is used to produce a map of the neutral wind field for that period of time. The construction of this map is based upon the use of a first-order polynomial expansion of the neutral wind field relative to the site coordinates of each FPI location. This expansion includes the first-order gradients of u and v with respect to the zonal (x) and meridional (y) directions. Computation of the best fit in a linear least squares sense of the model expansion parameters to the Doppler shift data for all three sites determines the values of these gradient parameters. Results obtained for mid-winter 2013 show the anti-cyclonic circulation expected near the terminator generated by the day-to-night pressure gradient. Sequences

  14. Ultrafast Fabry-Perot fiber-optic pressure sensors for multimedia blast event measurements.

    Science.gov (United States)

    Zou, Xiaotian; Wu, Nan; Tian, Ye; Zhang, Yang; Fitek, John; Maffeo, Michael; Niezrecki, Christopher; Chen, Julie; Wang, Xingwei

    2013-02-20

    A shock wave (SW) is characterized as a large pressure fluctuation that typically lasts only a few milliseconds. On the battlefield, SWs pose a serious threat to soldiers who are exposed to explosions, which may lead to blast-induced traumatic brain injuries. SWs can also be used beneficially and have been applied to a variety of medical treatments due to their unique interaction with tissues and cells. Consequently, it is important to have sensors that can quantify SW dynamics in order to better understand the physical interaction between body tissue and the incident acoustic wave. In this paper, the ultrafast fiber-optic sensor based on the Fabry-Perot interferometric principle was designed and four such sensors were fabricated to quantify a blast event within different media, simultaneously. The compact design of the fiber-optic sensor allows for a high degree of spatial resolution when capturing the wavefront of the traveling SW. Several blast event experiments were conducted within different media (e.g., air, rubber membrane, and water) to evaluate the sensor's performance. This research revealed valuable knowledge for further study of SW behavior and SW-related applications.

  15. Intensity phase coherence in three-mode Fabry-Pacute erot lasers

    International Nuclear Information System (INIS)

    Nguyen, B.A.; Mandel, P.

    1996-01-01

    We study analytically the intensity phase coherence in a three-mode Fabry-Pacute erot laser. We consider in detail the case of a central mode with maximum gain and two side modes with smaller but equal gains. This laser is characterized by three relaxation oscillation frequencies Ω R double-prime approx-gt Ω L1 double-prime approx-gt Ω L2 double-prime . In the framework of a linearized theory, the laser dynamics is, respectively, inphased and perfectly antiphased at Ω R double-prime and Ω L2 double-prime , irrespective of the modal gains. At Ω L1 double-prime the antiphase is only partial if the side mode gains are smaller than the central mode gain. Analytic gain- and pump-dependent relations between the three frequencies and between the heights of the peaks in the power spectra at these frequencies are established. We also derive universal relations between the peaks of the power spectra of the modal and the total intensities at the same frequencies that do not involve any parameter at all. copyright 1996 The American Physical Society

  16. Application of a fiber Fabry-Perot interferometer sensor for receiving SH-EMAT signals

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jin Hyuk; Kim, Dae Hyun; Park, Ik Keun [Seoul National University of Technology, Seoul (Korea, Republic of)

    2014-04-15

    Shear horizontal (SH) waves propagate as a type of plate wave in a thin sheet. The dispersion characteristics of SH waves can be used for signal analysis. Therefore, SH-waves are useful for monitoring the structural health of a thin-sheet-structure. An electromagnetic acoustic transducer (EMAT), which is a non-contact ultrasonic transducer, can generate SH-waves easily by varying the shape and array of magnets and coils. Therefore, an EMAT can be applied to an automated ultrasonic testing system for structural health monitoring. When used as a sensor, however, the EMAT has a weakness in that electromagnetic interference (EMI) noise can occur easily in the automated system because of motors and electric devices. Alternatively, a fiber optic sensor works well in the same environment with EMI noise because it uses a light signal instead of an electric signal. In this paper, a fiber Fabry-Prot interferometer (FFPI) was proposed as a sensor to receive the SH-waves generated by an EMAT. A simple test was performed to verify the performance of the FFPI sensor. It is thus shown that the FFPI can receive SH-wave signals clearly.

  17. Development of a Fabry-Perot cavity for the Compton polarimetry

    International Nuclear Information System (INIS)

    Jorda, Jean-Paul

    1997-01-01

    A quick, precise and non-destructive longitudinal polarisation measurement should be a great advantage for the HAPPEX experiment at CEBAF (Jefferson Lab, USA). To achieve this, it could be possible to use a Fabry-Perot cavity to get a high photon flux at the electron-photon interaction point of a Compton polarimeter. This thesis is a first study for the design of such a system. We have shown that a 'monolithic' cavity, i.e. with mirrors mounted on fixed stage, is a good solution. My contribution for these studies is the development of a code to compute the optimum geometry of a cavity. Another of my contribution concerns the test of a cavity based on commercial mirrors with a gain > 160, using the Pound-Drever method to lock the laser frequency. My studies concern optical matching between the laser beam and the cavity, the choice of the frequency of modulation for the feed-back system and the characterization of the intracavity power. This work is a first step of the studies which will lead to the integration of a cavity based system on the CEBAF beam line. (author) [fr

  18. A hollow coaxial cable Fabry-Pérot resonator for liquid dielectric constant measurement

    Science.gov (United States)

    Zhu, Chen; Zhuang, Yiyang; Chen, Yizheng; Huang, Jie

    2018-04-01

    We report, for the first time, a low-cost and robust homemade hollow coaxial cable Fabry-Pérot resonator (HCC-FPR) for measuring liquid dielectric constant. In the HCC design, the traditional dielectric insulating layer is replaced by air. A metal disk is welded onto the end of the HCC serving as a highly reflective reflector, and an open cavity is engineered on the HCC. After the open cavity is filled with the liquid analyte (e.g., water), the air-liquid interface acts as a highly reflective reflector due to large impedance mismatch. As a result, an HCC-FPR is formed by the two highly reflective reflectors, i.e., the air-liquid interface and the metal disk. We measured the room temperature dielectric constant for ethanol/water mixtures with different concentrations using this homemade HCC-FPR. Monitoring the evaporation of ethanol in ethanol/water mixtures was also conducted to demonstrate the ability of the sensor for continuously monitoring the change in dielectric constant. The results revealed that the HCC-FPR could be a promising evaporation rate detection platform with high performance. Due to its great advantages, such as high robustness, simple configuration, and ease of fabrication, the novel HCC-FPR based liquid dielectric constant sensor is believed to be of high interest in various fields.

  19. Tapered optical fiber tip probes based on focused ion beam-milled Fabry-Perot microcavities

    Science.gov (United States)

    André, Ricardo M.; Warren-Smith, Stephen C.; Becker, Martin; Dellith, Jan; Rothhardt, Manfred; Zibaii, M. I.; Latifi, H.; Marques, Manuel B.; Bartelt, Hartmut; Frazão, Orlando

    2016-09-01

    Focused ion beam technology is combined with dynamic chemical etching to create microcavities in tapered optical fiber tips, resulting in fiber probes for temperature and refractive index sensing. Dynamic chemical etching uses hydrofluoric acid and a syringe pump to etch standard optical fibers into cone structures called tapered fiber tips where the length, shape, and cone angle can be precisely controlled. On these tips, focused ion beam is used to mill several different types of Fabry-Perot microcavities. Two main cavity types are initially compared and then combined to form a third, complex cavity structure. In the first case, a gap is milled on the tapered fiber tip which allows the external medium to penetrate the light guiding region and thus presents sensitivity to external refractive index changes. In the second, two slots that function as mirrors are milled on the tip creating a silica cavity that is only sensitive to temperature changes. Finally, both cavities are combined on a single tapered fiber tip, resulting in a multi-cavity structure capable of discriminating between temperature and refractive index variations. This dual characterization is performed with the aid of a fast Fourier transform method to separate the contributions of each cavity and thus of temperature and refractive index. Ultimately, a tapered optical fiber tip probe with sub-standard dimensions containing a multi-cavity structure is projected, fabricated, characterized and applied as a sensing element for simultaneous temperature and refractive index discrimination.

  20. High-energy localized eigenstates in a Fabry-Perot graphene resonator in a magnetic field

    Science.gov (United States)

    Zalipaev, V. V.

    2012-06-01

    A semiclassical analysis of the high-energy eigenstates of Dirac fermions inside a graphene monolayer nanoribbon resonator of Fabry-Perot type in a magnetic field with zigzag boundary conditions is discussed. A semiclassical asymptotic method of construction of Maslov spectral series of energy spectrum and eigenfunctions, localized in an asymptotically small neighborhood of a periodic orbit, is developed for the graphene Dirac system. The isolated periodic orbit is confined between two flat boundaries. The analysis involves constructing a localized asymptotic solution to the Dirac system (electron-hole Gaussian beam). Then, the stability of a continuous family of periodic orbits (POs) confined between reflecting boundaries of the resonator is studied. The asymptotics of the eigenfunctions are constructed as a superposition of two Gaussian beams propagating in opposite directions between two reflecting points of the periodic orbit. The asymptotics of the energy spectrum are obtained by means of the generalized Bohr-Sommerfeld quantization condition only for stable POs. It provides two parts of semiclassical Maslov spectral series with positive and negative energies, for electrons and holes, correspondingly, with two different Hamiltonian dynamics and families of classical trajectories. The presence of electrostatic potential is vital as it makes a family of periodic orbit stable. For one subclass of lens-shaped periodic orbits, for a piecewise linear potential, localized eigenstates were computed numerically by the finite element method using COMSOL, and proved to be in very good agreement with the ones computed semiclassically.

  1. A Fabry-Pérot interferometer with wire-grid polarizers as beamsplitters at terahertz frequencies

    Science.gov (United States)

    Harrison, H.; Lancaster, A. J.; Konoplev, I. V.; Doucas, G.; Aryshev, A.; Shevelev, M.; Terunuma, N.; Urakawa, J.; Huggard, P. G.

    2018-03-01

    The design of a compact Fabry-Pérot interferometer (FPi) and results of the experimental studies carried out using the device are presented. Our FPi uses freestanding wire-grid polarizers (WGPs) as beamsplitters and is suitable for use at terahertz (THz) frequencies. The FPi was studied at the LUCX facility, KEK, Japan, and an 8 MeV linear electron accelerator was used to generate coherent Smith-Purcell radiation. The FPi was designed to be easy to align and reposition for experiments at linear accelerator facilities. All of the components used were required to have a flat or well understood frequency response in the THz range. The performance of the FPi with WGPs was compared to that of a Michelson interferometer and the FPi is seen to perform well. The effectiveness of the beamsplitters used in the FPi is also investigated. Measurements made with the FPi using WGPs, the preferred beamsplitters, are compared to measurements made with the FPi using silicon wafers as alternative beamsplitters. The FPi performs well with both types of beamsplitter in the frequency range used (0.3-0.5 THz). The successful measurements taken with the FPi demonstrate a compact and adaptable interferometer that is capable of analyzing THz radiation over a broad frequency range. The scheme is particularly well suited for polarization studies of THz radiation produced in an accelerator environment.

  2. The Gain Estimation of a Fabry-Perot Cavity (FPC Antenna with a Finite Dimension

    Directory of Open Access Journals (Sweden)

    Taek-Sun Kwon

    2017-10-01

    Full Text Available In this paper, we have presented an equation for estimating the gain of a Fabry-Perot cavity (FPC antenna with a finite dimension. When an FPC antenna has an infinite dimension and its height is half of a wavelength, the maximum gain of that FPC antenna can be obtained theoretically. If the FPC antenna does not have a dimension sufficient for multiple reflections between a partially reflective surface (PRS and the ground, its gain must be less than that of an FPC antenna that has an infinite dimension. In addition, the gain of an FPC antenna increases as the dimension of a PRS increases and becomes saturated from a specific dimension. The specific dimension where the gain starts to saturate also gets larger as the reflection magnitude of the PRS becomes closer to one. Thus, it would be convenient to have a gain equation when considering the dimension of an FPC antenna in order to estimate the exact gain of the FPC antenna with a specific dimension. A gain versus the dimension of the FPC antenna for various reflection magnitudes of PRS has been simulated, and the modified gain equation is produced through the curve fitting of the full-wave simulation results. The resulting empirical gain equation of an FPC antenna whose PRS dimension is larger than 1.5λ0 has been obtained.

  3. Nonlinear estimation of ring-down time for a Fabry-Perot optical cavity.

    Science.gov (United States)

    Kallapur, Abhijit G; Boyson, Toby K; Petersen, Ian R; Harb, Charles C

    2011-03-28

    This paper discusses the application of a discrete-time extended Kalman filter (EKF) to the problem of estimating the decay time constant for a Fabry-Perot optical cavity for cavity ring-down spectroscopy (CRDS). The data for the estimation process is obtained from a CRDS experimental setup in terms of the light intensity at the output of the cavity. The cavity is held in lock with the input laser frequency by controlling the distance between the mirrors within the cavity by means of a proportional-integral (PI) controller. The cavity is purged with nitrogen and placed under vacuum before chopping the incident light at 25 KHz and recording the light intensity at its output. In spite of beginning the EKF estimation process with uncertainties in the initial value for the decay time constant, its estimates converge well within a small neighborhood of the expected value for the decay time constant of the cavity within a few ring-down cycles. Also, the EKF estimation results for the decay time constant are compared to those obtained using the Levenberg-Marquardt estimation scheme.

  4. Gaucher disease and other storage disorders.

    Science.gov (United States)

    Grabowski, Gregory A

    2012-01-01

    In 1882, Philippe Gaucher described a 32-year-old woman with massive splenomegaly and unusually large cells in the spleen, which he called a "primary epithelioma of the spleen." The systemic nature and inheritance of the disease and its variants involving the viscera and CNS were described over the next century. The delineation of the causal enzymatic defects, genetics, molecular pathology, and genomics have provided pathogenic insights into the phenotypic spectrum and the bases for development of specific therapies for what is now known as Gaucher disease. As a prototype, the clinically and economically successful intracellular enzyme therapy provided the impetus for the expansion of similar research and therapeutic developments for other lysosomal storage diseases (LSDs) and orphan diseases, including Fabry, Pompe, and Niemann-Pick diseases, as well as several mucopolysaccharidoses. Continuing studies of such LSDs, which occur as a group in more than 7000 live births, have revealed the complex molecular interdigitation with the autophagy and apoptotic pathways and proteostasis and the impact of disruptions of the lysosomal/autophagy and proteostasis systems on more common diseases has been recognized. Examples include age-related neurodegenerative diseases (eg, Parkinson disease and Gaucher disease), idiopathic hypertrophic myocardiopathies, stroke and renal failure (eg, Fabry disease), and Nonalcoholic Fatty Liver Disease/Nonalcoholic SteatoHepatitis (NAFLD/NASH) and atherosclerosis (eg, lysosomal acid lipase deficiencies). Although perceived as rare, the availability of treatment and the impact of the LSDs on more common diseases require their integration into routine clinical practice.

  5. Rapid warming forces contrasting growth trends of subalpine fir ( Abies fabri ) at higher- and lower-elevations in the eastern Tibetan Plateau

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Wenzhi; Jia, Min; Wang, Genxu; Zhu, Wanze; McDowell, Nate G.

    2017-10-01

    Tree radial growth is expected to increase at higher elevations under climate warming, while lower elevation tree growth is expected to decline. However, numerous studies have found tree radial growth responds consistently to climate along elevational gradients. Here, we sampled five plots across the subalpine Abies fabri forest belt on Gongga Mountain in the eastern Tibetan Plateau to determine tree radial growth trends and responses to climate. Three commonly used detrending methods all consistently showed that tree radial growth at high elevation (> 3100 m) increased, while tree growth declined at the lower elevations (2700 m–2900 m) over the last three decades. Increasing late-growing season temperature positively (p < 0.05) correlated to tree radial growth at higher elevations, but the sign of this relationship reversed to become negative at lower elevations. Moving-window correlation analyses indicated the difference between high and low elevations response to temperature variation increased strongly with warming. Placing our result into the global context, 62% of 39 published studies found that trees along elevation gradients respond divergently to warming, and that these are located in warmer and wetter regions of the Earth. Notably, 28% of studies found non-significant responses to temperature at both high and low elevations. Our findings in the subalpine mountain forest in the eastern Tibetan Plateau were consistent with the majority of published datasets, and imply increasing temperature benefit for tree populations at higher elevation, while warming dampens growth at lower elevations.

  6. Mid-latitude thermospheric wind changes during the St. Patrick's Day storm of 2015 observed by two Fabry-Perot interferometers in China

    Science.gov (United States)

    Huang, Cong; Xu, Ji-Yao; Zhang, Xiao-Xin; Liu, Dan-Dan; Yuan, Wei; Jiang, Guo-Ying

    2018-04-01

    In this work, we utilize thermospheric wind observations by the Fabry-Perot interferometers (FPI) from the Kelan (KL) station (38.7°N, 111.6°E, Magnetic Latitude: 28.9°N) and the Xinglong (XL) station (40.2°N, 117.4°E, Magnetic Latitude: 30.5°N) in central China during the St. Patrick's Day storm (from Mar. 17 to Mar. 19) of 2015 to analyze thermospheric wind disturbances and compare observations with the Horizontal Wind Model 2007 (HWM07). The results reveal that the wind measurements at KL show very similar trends to those at XL. Large enhancements are seen in both the westward and equatorward winds after the severe geomagnetic storm occurred. The westward wind speed increased to a peak value of 75 m/s and the equatorward wind enhanced to a peak value of over 100 m/s. There also exist obvious poleward disturbances in the meridional winds during Mar. 17 to Mar. 19. According to the comparison with HWM07, there exist evident wind speed and temporal differences between FPI-winds and the model outputs in this severe geomagnetic storm. The discrepancies between the observations and HWM07 imply that the empirical model should be used carefully in wind disturbance forecast during large geomagnetic storms and more investigations between measurements and numerical models are necessary in future studies.

  7. Strain and high-temperature discrimination using a Type II fiber Bragg grating and a miniature fiber Fabry-Perot interferometer.

    Science.gov (United States)

    Jiang, Yajun; Yang, Dexing; Yuan, Yuan; Xu, Jian; Li, Dong; Zhao, Jianlin

    2016-08-10

    A novel method for simultaneous measurement of strain and high temperature using a Type II fiber Bragg grating (FBG) and a miniature fiber Fabry-Perot interferometer (MFFPI) is proposed. The MFFPI is produced by fusion splicing a short section of quartz capillary tube with two single-mode fibers, and then it is exposed by a focused femtosecond laser and a phase mask to inscribe a Type II FBG nearby. The reflection spectrum of this sensor is the superposition of the reflection spectrum of the FBG and the interference fringe of the MFFPI. This sensor shows perfect high-temperature and strain responses. Because of the different responses to the uniform variations of strain and temperature, by measuring the reflection peak of FBG and one of the interference dips of the MFFPI, strain and temperature can be simultaneously determined. The resolutions of this particular sensor in measuring strain and temperature are estimated to be ±8.4  μϵ and ±3.3°C, respectively, in the range from 0 to 1122 μϵ and from 23°C to 600°C.

  8. Construction of an optical semiconductor amplifier starting from a Fabry-Perot semiconductor laser; Construccion de un amplificador optico de semiconductor a partir de un laser de semiconductor Fabry-Perot

    Energy Technology Data Exchange (ETDEWEB)

    Garcia, E.; Soto, H.; Marquez, H.; Valles V, N. [Departamento de Electronica y Telecomunicaciones, Centro de Investigacion Cientifica y de Educacion Superior de Ensenada. Km. 107, Carretera Tijuana-Ensenada, 22860 Ensenada, Baja California (Mexico)

    2000-07-01

    A methodology to convert a semiconductor laser Fabry-Perot (SL-FP) in a semiconductor optical amplifier (SOA) is presented. In order to suppress the cavity resonant an optical thin film coating was deposited on the facets of the SL-FP. The experiment was carried out putting on service a new monitoring technique that consist in the observation of the laser power spectrum during the antireflection coatings deposition. This allows to determine the moment were the facets reflectivity is minimum. The SOA obtained was characterized for different polarization currents. (Author)

  9. GREGOR Fabry-Pérot interferometer and its companion the blue imaging solar spectrometer

    Science.gov (United States)

    Puschmann, Klaus G.; Denker, Carsten; Balthasar, Horst; Louis, Rohan E.; Popow, Emil; Woche, Manfred; Beck, Christian; Seelemann, Thomas; Volkmer, Reiner

    2013-08-01

    The GREGOR Fabry-Pérot Interferometer (GFPI) is one of three first-light instruments of the German 1.5-m GREGOR solar telescope at the Observatorio del Teide, Tenerife, Spain. The GFPI allows fast narrow-band imaging and postfactum image restoration. The retrieved physical parameters will be a fundamental building block for understanding the dynamic sun and its magnetic field at spatial scales down to ˜50 km on the solar surface. The GFPI is a tunable dual-etalon system in a collimated mounting. It is designed for spectrometric and spectropolarimetric observations between 530-860 nm and 580-660 nm, respectively, and possesses a theoretical spectral resolution of R≈250,000. Large-format, high-cadence charged coupled device detectors with sophisticated computer hard- and software enable the scanning of spectral lines in time-spans equivalent to the evolution time of solar features. The field-of-view (FOV) of 50″×38″ covers a significant fraction of the typical area of active regions in the spectroscopic mode. In case of Stokes-vector spectropolarimetry, the FOV reduces to 25″×38″. The main characteristics of the GFPI including advanced and automated calibration and observing procedures are presented. Improvements in the optical design of the instrument are discussed and first observational results are shown. Finally, the first concrete ideas for the integration of a second FPI, the blue imaging solar spectrometer, are laid out, which will explore the blue spectral region below 530 nm.

  10. High time resolution measurements of the thermosphere from Fabry-Perot Interferometer measurements of atomic oxygen

    Directory of Open Access Journals (Sweden)

    E. A. K. Ford

    2007-06-01

    Full Text Available Recent advances in the performance of CCD detectors have enabled a high time resolution study of the high latitude upper thermosphere with Fabry-Perot Interferometers (FPIs to be performed. 10-s integration times were used during a campaign in April 2004 on an FPI located in northern Sweden in the auroral oval. The FPI is used to study the thermosphere by measuring the oxygen red line emission at 630.0 nm, which emits at an altitude of approximately 240 km. Previous time resolutions have been 4 min at best, due to the cycle of look directions normally observed. By using 10 s rather than 40 s integration times, and by limiting the number of full cycles in a night, high resolution measurements down to 15 s were achievable. This has allowed the maximum variability of the thermospheric winds and temperatures, and 630.0 nm emission intensities, at approximately 240 km, to be determined as a few minutes. This is a significantly greater variability than the often assumed value of 1 h or more. A Lomb-Scargle analysis of this data has shown evidence of gravity wave activity with waves with short periods. Gravity waves are an important feature of mesosphere-lower thermosphere (MLT dynamics, observed using many techniques and providing an important mechanism for energy transfer between atmospheric regions. At high latitudes gravity waves may be generated in-situ by localised auroral activity. Short period waves were detected in all four clear nights when this experiment was performed, in 630.0 nm intensities and thermospheric winds and temperatures. Waves with many periodicities were observed, from periods of several hours, down to 14 min. These waves were seen in all parameters over several nights, implying that this variability is a typical property of the thermosphere.

  11. Nanoporous Zeolite Thin Film-Based Fiber Intrinsic Fabry-Perot Interferometric Sensor for Detection of Dissolved Organics in Water

    Directory of Open Access Journals (Sweden)

    Hai Xiao

    2006-08-01

    Full Text Available A fiber optic intrinsic Fabry-Perot interferometric (IFPI chemical sensor wasdeveloped by fine-polishing a thin layer of polycrystalline nanoporous MFI zeolitesynthesized on the cleaved endface of a single mode fiber. The sensor operated bymonitoring the optical thickness changes of the zeolite thin film caused by the adsorption oforganic molecules into the zeolite channels. The optical thickness of the zeolite thin filmwas measured by white light interferometry. Using methanol, 2-propanol, and toluene as themodel chemicals, it was demonstrated that the zeolite IPFI sensor could detect dissolvedorganics in water with high sensitivity.

  12. General Method for Calculating the Response and Noise Spectra of Active Fabry-Perot Semiconductor Waveguides With External Optical Injection

    DEFF Research Database (Denmark)

    Blaaberg, Søren; Mørk, Jesper

    2009-01-01

    We present a theoretical method for calculating small-signal modulation responses and noise spectra of active Fabry-Perot semiconductor waveguides with external light injection. Small-signal responses due to either a modulation of the pump current or due to an optical amplitude or phase modulatio...... amplifiers and an injection-locked laser. We also demonstrate the applicability of the method to analyze slow and fast light effects in semiconductor waveguides. Finite reflectivities of the facets are found to influence the phase changes of the injected microwave-modulated light....

  13. Fabry-Perot interferometer fiber tip sensor based on a glass microsphere glued at the etched end of multimode fiber

    Science.gov (United States)

    Chen, Weiping P.; Wang, Dongning N.; Xu, Ben; Wang, Zhaokun K.; Zhao, Chun-Liu

    2017-05-01

    We demonstrate an optical Fabry-Perot interferometer fiber tip sensor based on a glass microsphere glued at the etched end of a multimode fiber. The fiber device is miniature and robust, with a convenient reflection mode of operation, a high temperature sensitivity of 202.6 pm/°C within the range from 5°C to 90°C, a good refractive index sensitivity of ˜119 nm/RIU within the range from 1.331 to 1.38, and a gas pressure sensitivity of 0.19 dB/MPa.

  14. Development of Silicon-substrate Based Fabry-Perot Etalons for far-IR Astrophysics

    Science.gov (United States)

    Stacey, Gordon

    We propose to design, construct and test silicon-substrate-based (SSB) mirrors necessary for high performance Fabry-Perot interferometers (FPIs) to be used in the 25-40 um mid-IR band. These mirrors will be fabricated from silicon wafers that are anti-reflection coated (ARC) by micromachining an artificial dielectric meta-material on one side, and depositing optimized gold-metalized patterns on the other. Two mirrors with the metalized surfaces facing one-another form the Fabry-Perot cavity, also known as the FPI etalon. The exterior surfaces of the silicon mirrors are anti-reflection coated for both good transmission in the science band, and to prevent unwanted parasitic FPI cavities from forming between the four surfaces (one anti-reflection coated, one metalized for each mirror) of the FPI etalon. The mirrors will be tested within a Miniature Cryogenic Scanning Fabry-Perot (MCSF) that we have designed through support of a previous NASA grant (NNX09AB95G). This design is based on our long experience in constructing and using scanning FPI in the mid-IR to submm range, and fits within test-beds we have on hand that are suitable for both warm and cold tests. The key technologies are the ARC and tuned mirrors that are enabled by silicon nano-machining techniques. The creation of these SSB mirrors promises greatly improved performance over previous versions of mid-IR to submm-band FPIs that are based on mirrors made from free-standing metal mesh stretched over support rings. Performance is improved both structurally and in terms of sensitivity, and is measured as the product of the cavity finesse times transmission. Our electromagnetic modeling suggests that SSB mirrors will improve this product by a factor of 2 over the best free standing mesh etalons available. This translates into a factor of sqrt(2) improvement in sensitivity per etalon, or a full factor of 2 when used in a tandem (dual etalon) FPI spectrometer. The SSB improvements are due to both the stiff (~ 0

  15. A Variant Form of the Human Deleted in Malignant Brain Tumor 1 (DMBT1) Gene Shows Increased Expression in Inflammatory Bowel Diseases and Interacts with Dimeric Trefoil Factor 3 (TFF3)

    DEFF Research Database (Denmark)

    Madsen, Jens; Sorensen, Grith Lykke; Nielsen, Ole Stig

    2013-01-01

    The protein deleted in malignant brain tumors (DMBT1) and the trefoil factor (TFF) proteins have all been proposed to have roles in epithelial cell growth and cell differentiation and shown to be up regulated in inflammatory bowel diseases. A panel of monoclonal antibodies was raised against human...

  16. Mexico City normal weight children exposed to high concentrations of ambient PM2.5 show high blood leptin and endothelin-1, vitamin D deficiency, and food reward hormone dysregulation versus low pollution controls. Relevance for obesity and Alzheimer disease.

    Science.gov (United States)

    Calderón-Garcidueñas, Lilian; Franco-Lira, Maricela; D'Angiulli, Amedeo; Rodríguez-Díaz, Joel; Blaurock-Busch, Eleonore; Busch, Yvette; Chao, Chih-kai; Thompson, Charles; Mukherjee, Partha S; Torres-Jardón, Ricardo; Perry, George

    2015-07-01

    Millions of Mexico, US and across the world children are overweight and obese. Exposure to fossil-fuel combustion sources increases the risk for obesity and diabetes, while long-term exposure to fine particulate matter (PM2.5) and ozone (O3) above US EPA standards is associated with increased risk of Alzheimer's disease (AD). Mexico City Metropolitan Area children are chronically exposed to PM2.5 and O3 concentrations above the standards and exhibit systemic, brain and intrathecal inflammation, cognitive deficits, and Alzheimer disease neuropathology. We investigated adipokines, food reward hormones, endothelial dysfunction, vitamin D and apolipoprotein E (APOE) relationships in 80 healthy, normal weight 11.1±3.2 year olds matched by age, gender, BMI and SES, low (n: 26) versus high (n:54) PM2.5 exposures. Mexico City children had higher leptin and endothelin-1 (pMexico City APOE 4 versus 3 children had higher glucose (p=0.009). Serum 25-hydroxyvitamin DMexico City children. Leptin is strongly positively associated to PM 2.5 cumulative exposures. Residing in a high PM2.5 and O3 environment is associated with 12h fasting hyperleptinemia, altered appetite-regulating peptides, vitamin D deficiency, and increases in ET-1 in clinically healthy children. These changes could signal the future trajectory of urban children towards the development of insulin resistance, obesity, type II diabetes, premature cardiovascular disease, addiction-like behavior, cognitive impairment and Alzheimer's disease. Increased efforts should be made to decrease pediatric PM2.5 exposures, to deliver health interventions prior to the development of obesity and to identify and mitigate environmental factors influencing obesity and Alzheimer disease. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Real-time dynamic calibration of a tunable frequency laser source using a Fabry-Pérot interferometer

    Energy Technology Data Exchange (ETDEWEB)

    Mandula, Gábor, E-mail: mandula.gabor@wigner.mta.hu; Kis, Zsolt; Lengyel, Krisztián [Wigner Research Centre for Physics of the Hungarian Academy of Sciences, Konkoly-Thege Miklós út 29-33, H-1121 Budapest (Hungary)

    2015-12-15

    We report on a method for real-time dynamic calibration of a tunable external cavity diode laser by using a partially mode-matched plano-concave Fabry-Pérot interferometer in reflection geometry. Wide range laser frequency scanning is carried out by piezo-driven tilting of a diffractive grating playing the role of a frequency selective mirror in the laser cavity. The grating tilting system has a considerable mechanical inertness, so static laser frequency calibration leads to false results. The proposed real-time dynamic calibration based on the identification of primary- and Gouy-effect type secondary interference peaks with known frequency and temporal history can be used for a wide scanning range (from 0.2 GHz to more than 1 GHz). A concave spherical mirror with a radius of R = 100 cm and a plain 1% transmitting mirror was used as a Fabry-Pérot interferometer with various resonator lengths to investigate and demonstrate real-time calibration procedures for two kinds of laser frequency scanning functions.

  18. Fabry-Perot interferometer measurements of neutral winds and F2 layer variations at the magnetic equator

    Directory of Open Access Journals (Sweden)

    P. Vila

    1998-06-01

    Full Text Available This letter presents some night-time observations of neutral wind variations at F2 layer levels near the dip equator, measured by the Fabry-Perot interferometer set up in 1994 at Korhogo (Ivory Coast, geographic latitude 9.25°N, longitude 355°E, dip latitude –2.5°. Our instrument uses the 630 nm (O1D line to determine radial Doppler velocities of the oxygen atoms between 200 and 400 km altitude. First results for November 1994 to March 1995 reveal persistent eastward flows, and frequent intervals of southward winds of larger than 50 ms–1 velocity. Compared with the simultaneous ionospheric patterns deduced from the three West African equatorial ionosondes at Korhogo, Ouagadougou (Burkina-Faso, dip latitude +1.5° and Dakar (Sénégal, dip latitude +5°, they illustrate various impacts of the thermospheric winds on F2 layer density: (1 on the mesoscale evolution (a few 103 km and a few 100 minutes scales and (2 on local fluctuations (hundreds of km and tens of minutes characteristic times. We report on these fluctuations and discuss the opportunity to improve the time-resolution of the Fabry-Perot interferometer at Korhogo.Key words. Ionosphere (Equatorial ionosphere; Ionosphere-atmosphere interaction · Meteorology and Atmospheric Dynamics (General circulation

  19. A case report of motor neuron disease in a patient showing significant level of DDTs, HCHs and organophosphate metabolites in hair as well as levels of hexane and toluene in blood

    International Nuclear Information System (INIS)

    Kanavouras, Konstantinos; Tzatzarakis, Manolis N.; Mastorodemos, Vasileios; Plaitakis, Andreas; Tsatsakis, Aristidis M.

    2011-01-01

    Motor neuron disease is a devastating neurodegenerative condition, with the majority of sporadic, non-familial cases being of unknown etiology. Several epidemiological studies have suggested that occupational exposure to chemicals may be associated with disease pathogenesis. We report the case of a patient developing progressive motor neuron disease, who was chronically exposed to pesticides and organic solvents. The patient presented with leg spasticity and developed gradually clinical signs suggestive of amyotrophic lateral sclerosis, which was supported by the neurophysiologic and radiological findings. Our report is an evidence based case of combined exposure to organochlorine (DDTs), organophosphate pesticides (OPs) and organic solvents as confirmed by laboratory analysis in samples of blood and hair confirming systematic exposure. The concentration of non-specific dialkylphosphates metabolites (DAPs) of OPs in hair (dimethyphopshate (DMP) 1289.4 pg/mg and diethylphosphate (DEP) 709.4 pg/mg) and of DDTs (opDDE 484.0 pg/mg, ppDDE 526.6 pg/mg, opDDD 448.4 pg/mg, ppDDD + opDDT 259.9 pg/mg and ppDDT 573.7 pg/mg) were considerably significant. Toluene and n-hexane were also detected in blood on admission at hospital and quantified (1.23 and 0.87 μg/l, respectively), while 3 months after hospitalization blood testing was found negative for toluene and n-hexane and hair analysis was provided decrease levels of HCHs, DDTs and DAPs. -- Highlights: ► Exposure to pesticides and organic solvents might be a risk factor for sporadic MND. ► We report a patient who developed progressive upper and lower motor neuron disease. ► The patient had a history of occupational exposure to pesticides and solvents. ► High DDTs’ levels and increased levels of DMP and DEP were measured in his hair. ► The patients’ exposure to chemicals might have played a role in MND development.

  20. A case report of motor neuron disease in a patient showing significant level of DDTs, HCHs and organophosphate metabolites in hair as well as levels of hexane and toluene in blood

    Energy Technology Data Exchange (ETDEWEB)

    Kanavouras, Konstantinos [Department of Neurology, Medical School, University of Crete, Heraklion, Crete (Greece); Tzatzarakis, Manolis N. [Center of Toxicology Science and Research, University of Crete, Heraklion, Crete (Greece); Mastorodemos, Vasileios; Plaitakis, Andreas [Department of Neurology, Medical School, University of Crete, Heraklion, Crete (Greece); Tsatsakis, Aristidis M., E-mail: aris@med.uoc.gr [Center of Toxicology Science and Research, University of Crete, Heraklion, Crete (Greece)

    2011-11-15

    Motor neuron disease is a devastating neurodegenerative condition, with the majority of sporadic, non-familial cases being of unknown etiology. Several epidemiological studies have suggested that occupational exposure to chemicals may be associated with disease pathogenesis. We report the case of a patient developing progressive motor neuron disease, who was chronically exposed to pesticides and organic solvents. The patient presented with leg spasticity and developed gradually clinical signs suggestive of amyotrophic lateral sclerosis, which was supported by the neurophysiologic and radiological findings. Our report is an evidence based case of combined exposure to organochlorine (DDTs), organophosphate pesticides (OPs) and organic solvents as confirmed by laboratory analysis in samples of blood and hair confirming systematic exposure. The concentration of non-specific dialkylphosphates metabolites (DAPs) of OPs in hair (dimethyphopshate (DMP) 1289.4 pg/mg and diethylphosphate (DEP) 709.4 pg/mg) and of DDTs (opDDE 484.0 pg/mg, ppDDE 526.6 pg/mg, opDDD 448.4 pg/mg, ppDDD + opDDT 259.9 pg/mg and ppDDT 573.7 pg/mg) were considerably significant. Toluene and n-hexane were also detected in blood on admission at hospital and quantified (1.23 and 0.87 {mu}g/l, respectively), while 3 months after hospitalization blood testing was found negative for toluene and n-hexane and hair analysis was provided decrease levels of HCHs, DDTs and DAPs. -- Highlights: Black-Right-Pointing-Pointer Exposure to pesticides and organic solvents might be a risk factor for sporadic MND. Black-Right-Pointing-Pointer We report a patient who developed progressive upper and lower motor neuron disease. Black-Right-Pointing-Pointer The patient had a history of occupational exposure to pesticides and solvents. Black-Right-Pointing-Pointer High DDTs' levels and increased levels of DMP and DEP were measured in his hair. Black-Right-Pointing-Pointer The patients' exposure to chemicals might

  1. Designing, Probing, and Stabilizing Exotic Fabry-Perot Cavities for Studying Strongly Correlated Light

    Science.gov (United States)

    Ryou, Albert

    Synthetic materials made of engineered quasiparticles are a powerful platform for studying manybody physics and strongly correlated systems due to their bottom-up approach to Hamiltonian modeling. Photonic quasiparticles called polaritons are particularly appealing since they inherit fast dynamics from light and strong interaction from matter. This thesis describes the experimental demonstration of cavity Rydberg polaritons, which are composite particles arising from the hybridization of an optical cavity with Rydberg EIT, as well as the tools for probing and stabilizing the cavity. We first describe the design, construction, and testing of a four-mirror Fabry-Perot cavity, whose small waist size on the order of 10 microns is comparable to the Rydberg blockade radius. By achieving strong coupling between the cavity photon and an atomic ensemble undergoing electromagnetically induced transparency (EIT), we observe the emergence of the dark-state polariton and characterize its single-body properties as well as the single-quantum nonlinearity. We then describe the implementation of a holographic spatial light modulator for exciting different transverse modes of the cavity, an essential tool for studying polariton-polariton scattering. For compensating optical aberrations, we employ a digital micromirror device (DMD), combining beam shaping with adaptive optics to produce diffraction-limited light. We quantitatively measure the purity of the DMD-produced Hermite-Gauss modes and confirm up to 99.2% efficiency. One application of the technique is to create Laguerre-Gauss modes, which have been used to probe synthetic Landau levels for photons in a twisted, nonplanar cavity. Finally, we describe the implementation of an FPGA-based FIR filter for stabilizing the cavity. We digitally cancel the acoustical resonances of the feedback-controlled mechanical system, thereby demonstrating an order-of-magnitude enhancement in the feedback bandwidth from 200 Hz to more than 2 k

  2. Experimental investigation of the optical injection locking dynamics in single section quantum-dash Fabry-Pérot laser diode for packet based clock recovery applications

    NARCIS (Netherlands)

    Maldonado-Basilio, R.; Parra-Cetina, J.; Latkowski, S.; Calabretta, N.; Landais, P.

    2012-01-01

    An experimental study of the dynamics of a quantum-dash Fabry-Pérot passively mode-locked laser diode is presented. Firstly, the switching on and off characteristic times of the mode-locking mechanism with pulsed biasing current are assessed. Secondly, the locking and unlocking characteristic times

  3. Duchenne muscular dystrophy models show their age

    OpenAIRE

    Chamberlain, Jeffrey S.

    2010-01-01

    The lack of appropriate animal models has hampered efforts to develop therapies for Duchenne muscular dystrophy (DMD). A new mouse model lacking both dystrophin and telomerase (Sacco et al., 2010) closely mimics the pathological progression of human DMD and shows that muscle stem cell activity is a key determinant of disease severity.

  4. Interferometric filters for spectral discrimination in high-spectral-resolution lidar: performance comparisons between Fabry-Perot interferometer and field-widened Michelson interferometer.

    Science.gov (United States)

    Cheng, Zhongtao; Liu, Dong; Yang, Yongying; Yang, Liming; Huang, Hanlu

    2013-11-10

    Thanks to wavelength flexibility, interferometric filters such as Fabry-Perot interferometers (FPIs) and field-widened Michelson interferometers (FWMIs) have shown great convenience for spectrally separating the molecule and aerosol scattering components in the high-spectral-resolution lidar (HSRL) return signal. In this paper, performance comparisons between the FPI and FWMI as a spectroscopic discrimination filter in HSRL are performed. We first present a theoretical method for spectral transmission analysis and quantitative evaluation on the spectral discrimination. Then the process in determining the parameters of the FPI and FWMI for the performance comparisons is described. The influences from the incident field of view (FOV), the cumulative wavefront error induced by practical imperfections, and the frequency locking error on the spectral discrimination performance of the two filters are discussed in detail. Quantitative analyses demonstrate that FPI can produce higher transmittance while the remarkable spectral discrimination is one of the most appealing advantages of FWMI. As a result of the field-widened design, the FWMI still performs well even under the illumination with large FOV while the FPI is only qualified for a small incident angle. The cumulative wavefront error attaches a great effect on the spectral discrimination performance of the interferometric filters. We suggest if a cumulative wavefront error is less than 0.05 waves RMS, it is beneficial to employ the FWMI; otherwise, FPI may be more proper. Although the FWMI shows much more sensitivity to the frequency locking error, it can outperform the FPI given a locking error less than 0.1 GHz is achieved. In summary, the FWMI is very competent in HSRL applications if these practical engineering and control problems can be solved, theoretically. Some other estimations neglected in this paper can also be carried out through the analytical method illustrated herein.

  5. Theoretical and experimental study of low-finesse extrinsic Fabry-Perot interferometric fiber optic sensors

    Science.gov (United States)

    Han, Ming

    In this dissertation, detailed and systematic theoretical and experimental study of low-finesse extrinsic Fabry-Perot interferometric (EFPI) fiber optic sensors together with their signal processing methods for white-light systems are presented. The work aims to provide a better understanding of the operational principle of EFPI fiber optic sensors, and is useful and important in the design, optimization, fabrication and application of single mode fiber(SMF) EFPI (SMF-EFPI) and multimode fiber (MMF) EFPI (MMF-EFPI) sensor systems. The cases for SMF-EFPI and MMF-EFPI sensors are separately considered. In the analysis of SMF-EFPI sensors, the light transmitted in the fiber is approximated by a Gaussian beam and the obtained spectral transfer function of the sensors includes an extra phase shift due to the light coupling in the fiber end-face. This extra phase shift has not been addressed by previous researchers and is of great importance for high accuracy and high resolution signal processing of white-light SMF-EFPI systems. Fringe visibility degradation due to gap-length increase and sensor imperfections is studied. The results indicate that the fringe visibility of a SMF-EFPI sensor is relatively insensitive to the gap-length change and sensor imperfections. Based on the spectral fringe pattern predicated by the theory of SMF-EFPI sensors, a novel curve fitting signal processing method (Type 1 curve-fitting method) is presented for white-light SMF-EFPI sensor systems. Other spectral domain signal processing methods including the wavelength-tracking, the Type 2-3 curve fitting, Fourier transform, and two-point interrogation methods are reviewed and systematically analyzed. Experiments were carried out to compare the performances of these signal processing methods. The results have shown that the Type 1 curve fitting method achieves high accuracy, high resolution, large dynamic range, and the capability of absolute measurement at the same time, while others either

  6. Efficient optical probes for fast surface velocimetry: multiple frequency issues for Fabry and VISAR methods

    Science.gov (United States)

    Goosman, David R.; Avara, George R.; Perry, Stephen J.

    2001-04-01

    velocimeter. The Doppler-shifted light enters the collection fiber with angles between 0.11 and 0.2, with little light in the 0 to 0.11 NA region. However, the manybeam velocimeter uses just the light in the 0 to 0.11 NA range, except when we link two analyzer tables together. A slight amount of mode scrambling of the Doppler shifted light converts the light into a uniformly filled NA equals 0.2 angular range before entering the velocimeter analyzer table. We have expended seven hundred plastic nested lenses in various experiments. The most recent version of the fiber cable assembly will be shown. Six situations will be discussed where multiple reflected frequencies were observed in experiments, illustrating an advantage of the Fabry-Perot vs. the VISAR method.

  7. A preliminary study of thermosphere and mesosphere wind observed by Fabry-Perot over Kelan, China

    Science.gov (United States)

    Yu, Tao; Huang, Cong; Zhao, Guangxin; Mao, Tian; Wang, Yungang; Zeng, Zhongcao; Wang, Jingsong; Xia, Chunliang

    2014-06-01

    A Fabry-Perot interferometer (FPI) system was deployed in Kelan (38.7°N, 111.6°E), center China in November 2011, which observes the airglows at wavelengths of 892.0 nm, 557.7 nm, and 630.0 nm from OH and OI emissions in the upper atmosphere, to derive the wind and temperature at heights around 87 km, 97 km, and 250 km, respectively. From late 2011 through 2013 a series of more than 4500 measurements at each height are validated according to manufacture data quality criteria. By using these data, the morphology of wind in the mesosphere and thermosphere is investigated in this study. Preliminary results are as follows: (1) As for the diurnal variation, meridional and zonal winds at heights of 87 km and 97 km, which are derived through 892.0 nm and 557.7 nm airglows, usually range from -50 m/s to 30 m/s and -50 m/s to 50 m/s, respectively, with typical random errors of about 6-10 m/s at 87 km and 2-3 m/s at 97 km. Meridional winds usually are northward at dusk, southward at middle night, and back to northward at dawn; and zonal winds usually are eastward at dusk, westward at middle night, and back to eastward at dawn. The monthly mean winds are in good agreement with those of HWM93 results. Meridional and zonal winds at a height of 250 km, which are derived through 630.0 nm nightglow, range from -110 m/s to 80 m/s with typical random errors of about 8-10 m/s. Meridional winds usually are northward at dusk, southward at middle night, and back to northward at dawn; and zonal winds usually are eastward at dusk, zero at middle night, and westward at dawn; and they are also well consistent with HWM93 results. (2) As for the seasonal variation, meridional winds at the heights of 87 km and 97 km have a visible annual variation at 12-17 LT and with a little semiannual variation at all other hours, but the zonal winds at the heights of 87 km and 97 km have a semiannual variation all night. The seasonal dependence of the winds, both meridional and zonal winds, at the height

  8. Lysosomal storage diseases

    Science.gov (United States)

    Ferreira, Carlos R.; Gahl, William A.

    2016-01-01

    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. Sometimes, the lysosomal storage can be caused not by the enzymatic deficiency of one of the hydrolases, but by the deficiency of an activator protein, as occurs in the AB variant of GM2 gangliosidosis. Still other times, the accumulated lysosomal material results from failed egress of a small molecule as a consequence of a deficient transporter, as in cystinosis or Salla disease. In the last couple of decades, enzyme replacement therapy has become available for a number of lysosomal storage diseases. Examples include imiglucerase, taliglucerase and velaglucerase for Gaucher disease, laronidase for Hurler disease, idursulfase for Hunter disease, elosulfase for Morquio disease, galsulfase for Maroteaux-Lamy disease, alglucosidase alfa for Pompe disease, and agalsidase alfa and beta for Fabry disease. In addition, substrate reduction therapy has been approved for certain disorders, such as eliglustat for Gaucher disease. The advent of treatment options for some of these disorders has led to newborn screening pilot studies, and ultimately to the addition of Pompe disease and Hurler disease to the Recommended Uniform Screening Panel (RUSP) in 2015 and 2016, respectively. PMID:29152458

  9. Risk Aversion in Game Shows

    DEFF Research Database (Denmark)

    Andersen, Steffen; Harrison, Glenn W.; Lau, Morten I.

    2008-01-01

    We review the use of behavior from television game shows to infer risk attitudes. These shows provide evidence when contestants are making decisions over very large stakes, and in a replicated, structured way. Inferences are generally confounded by the subjective assessment of skill in some games......, and the dynamic nature of the task in most games. We consider the game shows Card Sharks, Jeopardy!, Lingo, and finally Deal Or No Deal. We provide a detailed case study of the analyses of Deal Or No Deal, since it is suitable for inference about risk attitudes and has attracted considerable attention....

  10. Measuring performance at trade shows

    DEFF Research Database (Denmark)

    Hansen, Kåre

    2004-01-01

    Trade shows is an increasingly important marketing activity to many companies, but current measures of trade show performance do not adequately capture dimensions important to exhibitors. Based on the marketing literature's outcome and behavior-based control system taxonomy, a model is built...... that captures a outcome-based sales dimension and four behavior-based dimensions (i.e. information-gathering, relationship building, image building, and motivation activities). A 16-item instrument is developed for assessing exhibitors perceptions of their trade show performance. The paper presents evidence...

  11. MEMS Fabry-Perot sensor interrogated by optical system-on-a-chip for simultaneous pressure and temperature sensing.

    Science.gov (United States)

    Pang, Cheng; Bae, Hyungdae; Gupta, Ashwani; Bryden, Kenneth; Yu, Miao

    2013-09-23

    We present a micro-electro-mechanical systems (MEMS) based Fabry-Perot (FP) sensor along with an optical system-on-a-chip (SOC) interrogator for simultaneous pressure and temperature sensing. The sensor employs a simple structure with an air-backed silicon membrane cross-axially bonded to a 45° polished optical fiber. This structure renders two cascaded FP cavities, enabling simultaneous pressure and temperature sensing in close proximity along the optical axis. The optical SOC consists of a broadband source, a MEMS FP tunable filter, a photodetector, and the supporting circuitry, serving as a miniature spectrometer for retrieving the two FP cavity lengths. Within the measured pressure and temperature ranges, experimental results demonstrate that the sensor exhibits a good linear response to external pressure and temperature changes.

  12. UW Imaging of Seismic-Physical-Models in Air Using Fiber-Optic Fabry-Perot Interferometer.

    Science.gov (United States)

    Rong, Qiangzhou; Hao, Yongxin; Zhou, Ruixiang; Yin, Xunli; Shao, Zhihua; Liang, Lei; Qiao, Xueguang

    2017-02-17

    A fiber-optic Fabry-Perot interferometer (FPI) has been proposed and demonstrated for the ultrasound wave (UW) imaging of seismic-physical models. The sensor probe comprises a single mode fiber (SMF) that is inserted into a ceramic tube terminated by an ultra-thin gold film. The probe performs with an excellent UW sensitivity thanks to the nanolayer gold film, and thus is capable of detecting a weak UW in air medium. Furthermore, the compact sensor is a symmetrical structure so that it presents a good directionality in the UW detection. The spectral band-side filter technique is used for UW interrogation. After scanning the models using the sensing probe in air, the two-dimensional (2D) images of four physical models are reconstructed.

  13. Note: Optical fiber milled by focused ion beam and its application for Fabry-Pérot refractive index sensor

    DEFF Research Database (Denmark)

    Yuan, Scott Wu; Wang, Fei; Savenko, Alexey

    2011-01-01

    We introduce a highly compact fiber-optic Fabry-Pérot refractive index sensor integrated with a fluid channel that is fabricated directly near the tip of a 32 μm in diameter single-mode fiber taper. The focused ion beam technique is used to efficiently mill the microcavity from the fiber side...... and finely polish the end facets of the cavity with a high spatial resolution. It is found that a fringe visibility of over 15 dB can be achieved and that the sensor has a sensitivity of ∼1731 nm/RIU (refractive index units) and a detection limit of ∼5.78 × 10−6 RIU. This miniature integrated all-in-fiber...

  14. Optical trapping and binding of particles in an optofluidic stable Fabry-Pérot resonator with single-sided injection.

    Science.gov (United States)

    Gaber, Noha; Malak, Maurine; Marty, Frédéric; Angelescu, Dan E; Richalot, Elodie; Bourouina, Tarik

    2014-07-07

    In this article, microparticles are manipulated inside an optofluidic Fabry-Pérot cylindrical cavity embedding a fluidic capillary tube, taking advantage of field enhancement and multiple reflections within the optically-resonant cavity. This enables trapping of suspended particles with single-side injection of light and with low optical power. A Hermite-Gaussian standing wave is developed inside the cavity, forming trapping spots at the locations of the electromagnetic field maxima with a strong intensity gradient. The particles get arranged in a pattern related to the mechanism affecting them: either optical trapping or optical binding. This is proven to eventually translate into either an axial one dimensional (1D) particle array or a cluster of particles. Numerical simulations are performed to model the field distributions inside the cavity allowing a behavioral understanding of the phenomena involved in each case.

  15. Extrinsic optical-fiber ultrasound sensor using a thin polymer film as a low-finesse Fabry-Perot interferometer

    Science.gov (United States)

    Beard, P. C.; Mills, T. N.

    1996-02-01

    Theoretical and experimental aspects of an extrinsic optical-fiber ultrasound sensor are described. The sensor is based on a thin transparent polymer film acting as a low-finesse Fabry-Perot cavity that is mounted at the end of a multimode optical fiber. Performance was found to be comparable with that of a piezoelectric polyvinylidene difluoride-membrane (PVDF) hydrophone with a sensitivity of 61 mV/MPa, an acoustic noise floor of 2.3 KPa over a 25-MHz bandwidth, and a frequency response to 25 MHz. The wideband-sensitive response and design flexibility of the concept suggests that it may find application as an alternative to piezoelectric devices for the detection and measurement of ultrasound.

  16. Non-destructive residual pressure self-measurement method for the sensing chip of optical Fabry-Perot pressure sensor.

    Science.gov (United States)

    Wang, Xue; Wang, Shuang; Jiang, Junfeng; Liu, Kun; Zhang, Xuezhi; Xiao, Mengnan; Xiao, Hai; Liu, Tiegen

    2017-12-11

    We introduce a simple residual pressure self-measurement method for the Fabry-Perot (F-P) cavity of optical MEMS pressure sensor. No extra installation is required and the structure of the sensor is unchanged. In the method, the relationship between residual pressure and external pressure under the same diaphragm deflection condition at different temperatures is analyzed by using the deflection formula of the circular plate with clamped edges and the ideal gas law. Based on this, the residual pressure under the flat condition can be obtained by pressure scanning process and calculation process. We carried out the experiment to compare the residual pressures of two batches MEMS sensors fabricated by two kinds of bonding process. The measurement result indicates that our approach is reliable enough for the measurement.

  17. Impact of mode partition noise in free-running gain-switched Fabry-Perot laser for 2-dimensional OCDMA.

    Science.gov (United States)

    Wang, Xu; Chan, Kam

    2004-07-26

    Free-running gain-switched Fabry-Perot laser diode is an appropriate incoherent broadband optical source for incoherent 2-dimensional optical code division multiple access. However, the mode partition noise (MPN) in the laser seriously degrades performance. We derived a bit error rate (BER) expression in the presence of MPN using the power spectra of the laser. The theory agreed with the experimental results. There was a power penalty and BER floor due to the MPN in the laser. Therefore, this scheme should be operated with a sufficiently large number of modes. At least 9 modes should be used for error-free transmission at 1 Gbit/s for the laser we investigated in this work.

  18. A new method for multi-channel Fabry-Perot spectroscopy of light pulses in the nanosecond regime

    International Nuclear Information System (INIS)

    Behn, R.

    1975-01-01

    The demand for powerful multichannel spectrometers raised, e.g., in laser scattering plasma diagnostics, gave rise to the question if it would not be possible to avoid the light losses occuring in the use of multichannel Fabry-Perot spectrometers. These losses can be avoided with the technique presented here. The reflected light is collected and fed back to the interferometer at a different angle. It can thus be recovered for registration in another spectral channel. This method is particularly suitable for the investigation of short light pulses. A spectrum can thus be scanned step by step with full utilization of the transit time of the light pulse. In addition to light recovery, there is another advantage in that only one detector is used for multichannel analysis, thus eliminating calibration problems. In the annex to the report, emission spectres of different dye laser versions are presented and explained. (orig./GG) [de

  19. GHGSat-D: Greenhouse gas plume imaging and quantification from space using a Fabry-Perot imaging spectrometer

    Science.gov (United States)

    McKeever, J.; Durak, B. O. A.; Gains, D.; Jervis, D.; Varon, D. J.; Germain, S.; Sloan, J. J.

    2017-12-01

    GHGSat, Inc. has launched the first satellite designed to detect and quantify greenhouse gas emissions from individual industrial sites. Our demonstration satellite GHGSat-D or "CLAIRE" was launched in June 2016. It weighs less than 15 kg and its primary instrument is a miniaturized Fabry-Perot imaging spectrometer with spectral resolution on the order of 0.1 nm. The spectral bandpass is 1635-1670 nm, giving the instrument access to absorption bands of both CO2 and CH4. Our system is based on targeted observations rather than global coverage, and our spatial imaging resolution is a key differentiator. Specifically, with a ground sampling distance of effect of the Fabry-Perot resonator and the scrolling scene gives a different spectral sampling of each surface location in every image. While our data processing toolchain does not produce a conventional hyperspectral dataset, it does yield a spectral decomposition of the spatially resolved signal that is compared to a model that includes atmospheric radiative transfer and the instrument's pixel-dependent spectral responsivity. Our presentation will describe the instrument design, concept of operations and retrievals approach. We will also present images and results from GHGSat-D at different processing levels, including high-resolution column density retrievals. An observation of the degassing flux of methane from the outlet of a recently impounded hydroelectric reservoir will be shown as an example. Finally we discuss some performance limitations of GHGSat-D and our plans to overcome them as we update the instrument design for the next satellites.

  20. Tokyo Motor Show 2003; Tokyo Motor Show 2003

    Energy Technology Data Exchange (ETDEWEB)

    Joly, E.

    2004-01-01

    The text which follows present the different techniques exposed during the 37. Tokyo Motor Show. The report points out the great tendencies of developments of the Japanese automobile industry. The hybrid electric-powered vehicles or those equipped with fuel cells have been highlighted by the Japanese manufacturers which allow considerable budgets in the research of less polluting vehicles. The exposed models, although being all different according to the manufacturer, use always a hybrid system: fuel cell/battery. The manufacturers have stressed too on the intelligent systems for navigation and safety as well as on the design and comfort. (O.M.)

  1. Reality show: um paradoxo nietzschiano

    Directory of Open Access Journals (Sweden)

    Ilana Feldman

    2011-01-01

    Full Text Available

    O fenômeno dos reality shows - e a subseqüente relação entre imagem e verdade - assenta-se sobre uma série de paradoxos. Tais paradoxos podem ser compreendidos à luz do pensamento do filósofo alemão Friedrich Nietzsche, que, através dos usos de formulações paradoxais, concebia a realidade como um mundo de pura aparência e a verdade como um acréscimo ficcional, como um efeito. A ficção é então tomada, na filosofia de Nietzsche, não em seu aspecto falsificante e desrealizador - como sempre pleiteou nossa tradição metafísica -, mas como condição necessária para que certa espécie de invenção possa operar como verdade. Sendo assim, a própria expressão reality show, através de sua formulação paradoxal, engendra explicitamente um mundo de pura aparência, em que a verdade, a parte reality da proposição, é da ordem do suplemento, daquilo que se acrescenta ficcionalmente - como um adjetivo - a show. O ornamento, nesse caso, passa a ocupar o lugar central, apontando para o efeito produzido: o efeito-de-verdade. Seguindo, então, o pensamento nietzschiano e sua atualização na contemporaneidade, investigaremos de que forma os televisivos “shows de realidade” operam paradoxalmente, em consonância com nossas paradoxais práticas culturais.

  2. Simultaneous measure of a spectral line profile and the apparatus function of a Fabry-Perot spectrometer when continuous background is present

    International Nuclear Information System (INIS)

    Moreno, J.M.; Quintanilla, M.; Mar, S.

    1978-01-01

    A deconvolution method of registered profile on a Fabry-Perot spectrometer is developed, when the actual profile of the source is a Voigt pattern together with a continuous background. The reliability and accuracy of the method is tested with theoreticaly simulated profiles. The method is applied both to measure the real line profiles and to find the Fabry-Perot parameters, as a test of its validity on studies of experimental profiles. Both measure types -source profile and apparatus function- are made simultaneously by means of analysis of the variations of registered profile, at 6438.5A Cd line and 6328A He-Ne laser line, varying the optical path between interferometer mirrors. (author) [es

  3. Development of a six channel Fabry-Perot interferometer for continuous measurement of electron temperature of Tokamak plasma. Application to current diffusion study

    International Nuclear Information System (INIS)

    Talvard, M.

    1984-10-01

    It is shown how the properties of the electron cyclotron emission of a tokamak plasma can be used to measure the electron temperature. The design of a six channel Fabry-Perot interferometer is then described. This interferometer allows the measurement of the time evolution of the electron temperature profile of the plasma in the TFR tokamak. Using this technique interesting results have been obtained concerning the current penetration during the start up phase of a tokamak discharge [fr

  4. Non-Invasive Gene Therapy of Experimental Parkinson’s Disease

    Science.gov (United States)

    2006-09-01

    11. Naeser P. Insulin receptors in human ocular tissues. Immunohis- tochemical demonstration in normal and diabetic eyes. Ups J Med Sci 1997; 102:35-40...Sly) GUSB NM_000181 Fabry disease GLA NM_000169 Neuronal ceroid lipofuscinosis (NCL1) PPT NM_000310 NCL2, late infantile (Jansky-Bielschowsky) CLN2...immunohistochemical demonstration in normal and diabetic eyes. Upsala J Med Sci 1997; 102: 35–40. 16. Haruta M, Kosaka M, Kanegae Y, et al. Induction of

  5. The Feasibility of Tropospheric and Total Ozone Determination Using a Fabry-perot Interferometer as a Satellite-based Nadir-viewing Atmospheric Sensor. Ph.D. Thesis

    Science.gov (United States)

    Larar, Allen Maurice

    1993-01-01

    Monitoring of the global distribution of tropospheric ozone (O3) is desirable for enhanced scientific understanding as well as to potentially lessen the ill-health impacts associated with exposure to elevated concentrations in the lower atmosphere. Such a capability can be achieved using a satellite-based device making high spectral resolution measurements with high signal-to-noise ratios; this would enable observation in the pressure-broadened wings of strong O3 lines while minimizing the impact of undesirable signal contributions associated with, for example, the terrestrial surface, interfering species, and clouds. The Fabry-Perot Interferometer (FPI) provides high spectral resolution and high throughput capabilities that are essential for this measurement task. Through proper selection of channel spectral regions, the FPI optimized for tropospheric O3 measurements can simultaneously observe a stratospheric component and thus the total O3 column abundance. Decreasing stratospheric O3 concentrations may lead to an increase in biologically harmful solar ultraviolet radiation reaching the earth's surface, which is detrimental to health. In this research, a conceptual instrument design to achieve the desired measurement has been formulated. This involves a double-etalon fixed-gap series configuration FPI along with an ultra-narrow bandpass filter to achieve single-order operation with an overall spectral resolution of approximately .068 cm(exp -1). A spectral region of about 1 cm(exp -1) wide centered at 1054.73 cm(exp -1) within the strong 9.6 micron ozone infrared band is sampled with 24 spectral channels. Other design characteristics include operation from a nadir-viewing satellite configuration utilizing a 9 inch (diameter) telescope and achieving horizontal spatial resolution with a 50 km nadir footprint. A retrieval technique has been implemented and is demonstrated for a tropical atmosphere possessing enhanced tropospheric ozone amounts. An error analysis

  6. Multi-event study of high-latitude thermospheric wind variations at substorm onset with a Fabry-Perot interferometer at Tromsoe, Norway

    Science.gov (United States)

    Xu, H.; Shiokawa, K.; Oyama, S. I.; Otsuka, Y.

    2017-12-01

    We studied the high-latitude thermospheric wind variations near the onset time of isolated substorms. Substorm-related energy input from the magnetosphere to the polar ionosphere modifies the high-latitude ionosphere and thermosphere. For the first time, this study showed the characteristics of high-latitude thermospheric wind variations at the substorm onset. We also investigated the possibility of these wind variations as a potential trigger of substorm onset by modifying the ionospheric current system (Kan, 1993). A Fabry-Perot interferometer (FPI) at Tromsoe, Norway provided wind measurements estimated from Doppler shift of both red-line (630.0 nm for the F region) and green-line (557.7 nm for the E region) emissions of aurora and airglow. We used seven-year data sets obtained from 2009 to 2015 with a time resolution of 13 min. We first identified the onset times of local isolated substorms using ground-based magnetometer data obtained at the Tromsoe and Bear Island stations, which belongs to the IMAGE magnetometer chain. We obtained 4 red-line events and 5 green-line events taken place at different local times. For all these events, the peak locations of westward ionospheric currents identified by the ground-based magnetometer chain were located at the poleward side of Tromsoe. Then, we calculated two weighted averages of wind velocities for 30 min around the onset time and 30 min after the onset time of substorms. We evaluated differences between these two weighted averages to estimate the strength of wind changes. The observed wind changes at these substorm onsets were less than 49 m/s (26 m/s) for red-line (green-line) events, which are much smaller than the typical plasma convection speed. This indicates that the plasma motion caused by substorm-induced thermospheric winds through ion-neutral collisions is a minor effect as the driver of high-latitude plasma convection, as well as the triggering of substorm onset. We discuss possible causes of these

  7. An efficient hexagonal switched beam antenna structure based on Fabry-Perot cavity leaky-wave antenna

    Science.gov (United States)

    Aymen El Cafsi, Mohamed; Nedil, Mourad; Osman, Lotfi; Gharsallah, Ali

    2015-11-01

    A novel design of switched beam antenna (SBA) system based on Fabry-Perot cavity leaky-wave antenna (FPC LWA) is designed and fabricated for base station operating in the unlicensed ISM central frequency band at 5.8 GHz of the wireless local area network (WLAN) standard. The proposed SBA is designed with hexagonal shape of FPC LWA Arrays in order to get 360° of coverage. The single element of FPC LWA array is composed of a patch antenna and covered by a Partially Reflective Surface (PRS), which is composed of a Metal Strip Grating and printed on a high permittivity Superstrate. First, the Transmission Line Model of FPC LWA is introduced to analyse and calculate the far-field components in E- and H planes by using the Transverse Equivalent Network. This approach is then compared with other full wave's commercial software such as Ansoft HFSS and CST Microwave Studio. Second, a parametric study is performed to evaluate the effect of the angle formed by the two successive FPC LWA on the radiation efficiency of the activate sector. To examine the performance of the proposed SBA, experimental prototype was fabricated and measured. As a result, multiple orthogonal beams (six beams) of 10 dBi of gain with low Side Lobes Level and 360° of coverage are produced. This SBA structure is suitable for WLAN communication systems.

  8. An MRI-Guided Telesurgery System Using a Fabry-Perot Interferometry Force Sensor and a Pneumatic Haptic Device.

    Science.gov (United States)

    Su, Hao; Shang, Weijian; Li, Gang; Patel, Niravkumar; Fischer, Gregory S

    2017-08-01

    This paper presents a surgical master-slave teleoperation system for percutaneous interventional procedures under continuous magnetic resonance imaging (MRI) guidance. The slave robot consists of a piezoelectrically actuated 6-degree-of-freedom (DOF) robot for needle placement with an integrated fiber optic force sensor (1-DOF axial force measurement) using the Fabry-Perot interferometry (FPI) sensing principle; it is configured to operate inside the bore of the MRI scanner during imaging. By leveraging the advantages of pneumatic and piezoelectric actuation in force and position control respectively, we have designed a pneumatically actuated master robot (haptic device) with strain gauge based force sensing that is configured to operate the slave from within the scanner room during imaging. The slave robot follows the insertion motion of the haptic device while the haptic device displays the needle insertion force as measured by the FPI sensor. Image interference evaluation demonstrates that the telesurgery system presents a signal to noise ratio reduction of less than 17% and less than 1% geometric distortion during simultaneous robot motion and imaging. Teleoperated needle insertion and rotation experiments were performed to reach 10 targets in a soft tissue-mimicking phantom with 0.70 ± 0.35 mm Cartesian space error.

  9. Displacement-noise-free gravitational-wave detection with a single Fabry-Perot cavity: A toy model

    International Nuclear Information System (INIS)

    Tarabrin, Sergey P.; Vyatchanin, Sergey P.

    2008-01-01

    We propose a detuned Fabry-Perot cavity, pumped through both the mirrors, as a toy model of the gravitational-wave (GW) detector partially free from displacement noise of the test masses. It is demonstrated that the noise of cavity mirrors can be eliminated, but the one of lasers and detectors cannot. The isolation of the GW signal from displacement noise of the mirrors is achieved in a proper linear combination of the cavity output signals. The construction of such a linear combination is possible due to the difference between the reflected and transmitted output signals of detuned cavity. We demonstrate that in low-frequency region the obtained displacement-noise-free response signal is much stronger than the f gw 3 -limited sensitivity of displacement-noise-free interferometers recently proposed by S. Kawamura and Y. Chen. However, the loss of the resonant gain in the noise cancelation procedure results is the sensitivity limitation of our toy model by displacement noise of lasers and detectors

  10. Cost-effective optical fiber pressure sensor based on intrinsic Fabry-Perot interferometric micro-cavities

    Science.gov (United States)

    Domingues, M. Fátima; Rodriguez, Camilo A.; Martins, Joana; Tavares, Cátia; Marques, Carlos; Alberto, Nélia; André, Paulo; Antunes, Paulo

    2018-05-01

    In this work, a cost-effective procedure to manufacture optical fiber pressure sensors is presented. This has a high relevance for integration in robotic exoskeletons or for gait plantar pressure monitoring within the physical rehabilitation scenarios, among other applications. The sensing elements are based on Fabry-Perot interferometric (FPI) micro-cavities, created from the recycling of optical fibers previously destroyed by the catastrophic fuse effect. To produce the pressure sensors, the fiber containing the FPI micro-cavities was embedded in an epoxy resin cylinder used as pressure transducer and responsible to transfer the pressure applied on its surface to the optical fiber containing the FPI micro-cavity. Before the embedding process, some FPI sensors were also characterized to strain variations. After that, the effect of the encapsulation of the FPI structure into the resin was assessed, from which a slight decrease on the FPI interferogram fringes visibility was verified, indicating a small increase in the micro-cavity length. Up on the sensors characterization, a linear dependence of the wavelength shift with the induced pressure was obtained, which leads to a maximum sensitivity of 59.39 ± 1.7 pm/kPa. Moreover, direct dependence of the pressure sensitivity with the micro-cavity volume and length was found.

  11. Application of Thin ZnO ALD Layers in Fiber-Optic Fabry-Pérot Sensing Interferometers

    Directory of Open Access Journals (Sweden)

    Daria Majchrowicz

    2016-03-01

    Full Text Available In this paper we investigated the response of a fiber-optic Fabry-Pérot sensing interferometer with thin ZnO layers deposited on the end faces of the optical fibers forming the cavity. Standard telecommunication single-mode optical fiber (SMF-28 segments were used with the thin ZnO layers deposited by Atomic Layer Deposition (ALD. Measurements were performed with the interferometer illuminated by two broadband sources operating at 1300 nm and 1550 nm. Reflected interference signal was acquired by an optical spectrum analyzer while the length of the air cavity was varied. Thickness of the ZnO layers used in the experiments was 50 nm, 100 nm, and 200 nm. Uncoated SMF-28 fiber was also used as a reference. Based on the results of measurements, the thickness of the ZnO layers and the length of the cavity were selected in order to achieve good visibility. Following, the interferometer was used to determine the refractive index of selected liquids.

  12. A high-transmission liquid-crystal Fabry-Perot infrared filter for electrically tunable spectral imaging detection

    Science.gov (United States)

    Liu, Zhonglun; Xin, Zhaowei; Long, Huabao; Wei, Dong; Dai, Wanwan; Zhang, Xinyu; Wang, Haiwei; Xie, Changsheng

    2018-02-01

    Previous studies have presented the usefulness of typical liquid-crystal Fabry-Perot (LC-FP) infrared filters for spectral imaging detection. Yet, their infrared transmission performances still remain to improve or even rise. In this paper, we propose a new type of electrically tunable LC-FP infrared filter to solve the problem above. The key component of the device is a FP resonant cavity composed of two parallel plane mirrors, in which the zinc selenide (ZnSe) materials with a very high transmittance in the mid-long-wavelength infrared regions are used as the electrode substrates and a layer of nano-aluminum (Al) film, which is directly contacted with liquid-crystal materials, is chosen to make high reflective mirrors as well as the electrodes. Particularly, it should be noted that the directional layer made up of ployimide (PI) used previously is removed. The experiment results indicate that the filter can reduce the absorption of infrared wave remarkably, and thus highlight a road to effectively improve the infrared transmittance ability.

  13. Use of a Fabry-Perot resonator at millimeter wave frequencies in the determination of thin-film resistivities

    Energy Technology Data Exchange (ETDEWEB)

    Hogan, S. J.

    1979-08-01

    A novel contact-free method of measuring resistivity of thin semiconducting films on highly conductive substrates is described. The material structure studied is commonly encountered in thin-film solar cell development. The microwave technique that involves using a semiconfocal Fabry-Perot cavity at a wavelength of 3 mm is discussed in detail. The sample consists o a thin film of CdS on a brass substrate and is mounted on the flat reflector of the cavity. Using field perturbation methods, an expression is derived that relates the film resistivity to the cavity quality factor Q. The cavity quality factor is an easily measured parameter and, by comparing measurements of Q with and without the sample mounted, an accurate measure of the resistivity is obtained. Accuracy of measurements and necessary sample constraints are discussed in detail. Three samples of CdS were measured on brass substrates spanning an order of magnitude in resistivity difference. The results of the method described agree with those of another method that involves current voltage measurement after application of a metallic contact. Unlike the latter method, however, the new technique provides a nondestructive way of measuring the resistivity of semiconductor films on conducting substrates and is amenable to automation.

  14. Auroral zone thermospheric dynamics using Fabry-Perot interferometric measurements of the O1 15867 K emission

    International Nuclear Information System (INIS)

    Sica, R.J.

    1985-01-01

    Forty-four nights of thermospheric neutral wind and temperature measurements were obtained from College, Alaska (65 0 invariant latitude) during solar maximum using a ground-based Fabry-Perot interferometer. When averaged by increasing geomagnetic activity, the wind exhibits two main features. First, the general flow pattern poleward and westward in the evening, changing to southward and eastward in the morning, persists with increasing activity. The flow velocity increases and the change in direction occurs earlier in magnetic local time as the geomagnetic activity increases. Second, as the activity increases, the meridional wind pattern shifts equatorward with the auroral oval. Consequently, the low geomagnetic activity average wind pattern in the north is similar to the moderate activity average pattern in the south. The average thermospheric temperature is governed by the geomagnetic activity and by the previous day's 10.7 cm solar flux. The increase in temperature with solar flux is about the same as with auroral activity (approx. = 225 0 K). The dynamical behavior on individual nights highlights the importance of local auroral substorms, which can cause large deviations from both global models and the observed averages. Coupling between the E and F regions is inferred by comparing the bulk motion of the optical aurora and the observed wind. Westward-drifting auroral forms accompany the westward evening zonal wind

  15. Intra-Tissue Pressure Measurement in Ex Vivo Liver Undergoing Laser Ablation with Fiber-Optic Fabry-Perot Probe

    Directory of Open Access Journals (Sweden)

    Daniele Tosi

    2016-04-01

    Full Text Available We report the first-ever intra-tissue pressure measurement performed during 1064 nm laser ablation (LA of an ex vivo porcine liver. Pressure detection has been performed with a biocompatible, all-glass, temperature-insensitive Extrinsic Fabry-Perot Interferometry (EFPI miniature probe; the proposed methodology mimics in-vivo treatment. Four experiments have been performed, positioning the probe at different positions from the laser applicator tip (from 0.5 mm to 5 mm. Pressure levels increase during ablation time, and decrease with distance from applicator tip: the recorded peak parenchymal pressure levels range from 1.9 kPa to 71.6 kPa. Different pressure evolutions have been recorded, as pressure rises earlier in proximity of the tip. The present study is the first investigation of parenchymal pressure detection in liver undergoing LA: the successful detection of intra-tissue pressure may be a key asset for improving LA, as pressure levels have been correlated to scattered recurrences of tumors by different studies.

  16. Measurement of Microvibration by Using Dual-Cavity Fiber Fabry-Perot Interferometer for Structural Health Monitoring

    Directory of Open Access Journals (Sweden)

    Dae-Hyun Kim

    2014-01-01

    Full Text Available Extensive researches have recently been performed to study structural integrity using structural vibration data measured by in-structure sensors. A fiber optic sensor is one of candidates for the in-structure sensors because it is low in cost, light in weight, small in size, resistant to EM interference, long in service life, and so forth. Especially, an interferometric fiber optic sensor is very useful to measure vibrations with high resolution and accuracy. In this paper, a dual-cavity fiber Fabry-Perot interferometer was proposed with a phase-compensating algorithm for measuring micro-vibration. The interferometer has structurally two arbitrary cavities; therefore the initial phase difference between two sinusoidal signals induced from the interferometer was also arbitrary. In order to do signal processing including an arc-tangent method, a random value of the initial phase difference is automatically adjusted to the exact 90 degrees in the phase-compensating algorithm part. For the verification of the performance of the interferometer, a simple vibration-test was performed to measure micro-vibration caused by piezoelectric transducer (PZT. As an experimental result, the interferometer attached on the PZT successfully measured the 50 Hz-vibration of which the absolute displacement oscillated between −424 nm and +424 nm.

  17. Fabry-Perot magnonic ballistic coherent transport across ultrathin ferromagnetic lamellar bcc Ni nanostructures between Fe leads

    Science.gov (United States)

    Khater, A.; Saim, L.; Tigrine, R.; Ghader, D.

    2018-06-01

    We propose thermodynamically stable systems of ultrathin lamellar bcc Ni nanostructures between bcc Fe leads, sbnd Fe[Ni(n)]Fesbnd , based on the available literature for bcc Ni overlayers on Fe(001) surfaces, and establish the necessary criteria for their structural and ferromagnetic order, for thicknesses n ≤ 6 bcc Ni monatomic layers. The system is globally ferromagnetic. A theoretical model is presented to investigate and understand the ballistic coherent scattering of Fe spin-waves, incident from the leads, at the ferromagnetic bcc Ni nanostructure. The Nisbnd Ni and Nisbnd Fe exchange are computed using the Ising effective field theory (EFT), and the magnetic ground state of the system is constructed in the Heisenberg representation. We compute the spin-wave eigenmodes localized on the bcc Ni nanostructure, using the phase field matching theory (PFMT), illustrating the effects of symmetry breaking on the confinement of localized spin excitations. The reflection and transmission scattering properties of spin-waves incident from the Fe leads, across the embedded Ni nanostructures are investigated within the framework of the same PFMT methodology. A highly refined Fabry-Perot magnonic ballistic coherent transmission spectra is observed for these sbnd Fe[Ni(n)]Fesbnd systems.

  18. Fiber Fabry-Perot Force Sensor with Small Volume and High Performance for Assessing Fretting Damage of Steam Generator Tubes.

    Science.gov (United States)

    Huang, Peijian; Wang, Ning; Li, Junying; Zhu, Yong; Zhang, Jie

    2017-12-13

    Measuring the radial collision force between the steam generator tube (SGT) and the tube support plate (TSP) is essential to assess the fretting damage of the SGT. In order to measure the radial collision force, a novel miniaturized force sensor based on fiber Fabry-Perot (F-P) was designed, and the principle and characteristics of the sensor were analyzed in detail. Then, the F-P force sensor was successfully fabricated and calibrated, and the overall dimensions of the encapsulated fiber F-P sensor were 17 mm × 5 mm × 3 mm (L × W × H). The sensor works well in humid, high pressure (10 MPa), high temperature (350 °C), and vibration (40 kHz) environments. Finally, the F-P force sensors were installed in a 1:1 steam generator test loop, and the radial collision force signals between the SGT and the TSP were obtained. The experiments indicated that the F-P sensor with small volume and high performance could help in assessing the fretting damage of the steam generator tubes.

  19. A Fabry-Perot Interferometry Based MRI-Compatible Miniature Uniaxial Force Sensor for Percutaneous Needle Placement

    Science.gov (United States)

    Shang, Weijian; Su, Hao; Li, Gang; Furlong, Cosme; Fischer, Gregory S.

    2014-01-01

    Robot-assisted surgical procedures, taking advantage of the high soft tissue contrast and real-time imaging of magnetic resonance imaging (MRI), are developing rapidly. However, it is crucial to maintain tactile force feedback in MRI-guided needle-based procedures. This paper presents a Fabry-Perot interference (FPI) based system of an MRI-compatible fiber optic sensor which has been integrated into a piezoelectrically actuated robot for prostate cancer biopsy and brachytherapy in 3T MRI scanner. The opto-electronic sensing system design was minimized to fit inside an MRI-compatible robot controller enclosure. A flexure mechanism was designed that integrates the FPI sensor fiber for measuring needle insertion force, and finite element analysis was performed for optimizing the correct force-deformation relationship. The compact, low-cost FPI sensing system was integrated into the robot and calibration was conducted. The root mean square (RMS) error of the calibration among the range of 0–10 Newton was 0.318 Newton comparing to the theoretical model which has been proven sufficient for robot control and teleoperation. PMID:25126153

  20. Wavelength-tunable thulium-doped fiber laser by employing a self-made Fabry-Perot filter

    Science.gov (United States)

    Wang, Y. P.; Ju, Y. L.; Wu, C. T.; Liu, W.; Yang, C.

    2017-06-01

    In this demonstration, we proposed a novel wavelength-tunable thulium-doped fiber laser (TDFL) with a self-made Fabry-Perot (F-P) filter. When the F-P filter was not inserted, the maximum output power of 11.1 W was achieved when the pump power was 70.2 W. The corresponding optical-to-optical conversion efficiency was 15.8% and the slope efficiency was 22.1%. When the F-P filter was inserted, the output wavelength could be tuned from 1952.9 to 1934.9 nm with the change of cavity length of F-P filter which was fixed on a piezoelectric ceramic transducer (PZT) controlled by the voltage applied to it. The full width at half maximum (FWHM) was no more than 0.19 nm. Furthermore, the wavelength fluctuations of the tunable fiber laser were kept within  ±0.2 nm.

  1. Cascaded-cavity Fabry-Perot interferometer for simultaneous measurement of temperature and strain with cross-sensitivity compensation

    Science.gov (United States)

    Tian, Jiajun; Jiao, Yuzhu; Ji, Shaobo; Dong, Xiaolong; Yao, Yong

    2018-04-01

    We propose and demonstrate a fiber sensor for simultaneous temperature and strain measurements. The proposed sensor is implemented by a cascaded-cavity Fabry-Perot (FP) fiber interferometer. The two cascaded FP cavities comprise a micro-air-cavity in a hollow-core tube fiber and a micro-silica-cavity in a standard single-mode fiber. To separate the interference spectrum of each FP cavity, the total spectrum is filtered in the frequency domain through band-pass filters, whose central frequencies were predesigned based on the relationship between the spatial frequency and free spectral range of each FP cavity. The different cross-sectional areas and thermal-optic coefficients of the two FP cavities confer different sensitivities to temperature and strain. Both parameters were measured simultaneously by tracking the wavelength shifts in the filtered interference spectra of the FP cavities. Moreover, the temperature-strain cross-sensitivity was compensated by solving a sensitivity-coefficient matrix equation for the two cavities, using the calibrated temperatures and strains. Other advantages of the proposed sensor are simple fabrication and an all-fiber structure. Owing to these properties, the proposed sensor is potentially applicable to real sensing applications.

  2. Surface stress sensor based on MEMS Fabry-Perot interferometer with high wavelength selectivity for label-free biosensing

    Science.gov (United States)

    Takahashi, Toshiaki; Hizawa, Takeshi; Misawa, Nobuo; Taki, Miki; Sawada, Kazuaki; Takahashi, Kazuhiro

    2018-05-01

    We have developed a surface stress sensor based on a microelectromechanical Fabry-Perot interferometer with high wavelength selectivity by using Au half-mirrors, for highly sensitive label-free biosensing. When the target molecule is adsorbed by the antigen-antibody reaction onto a movable membrane with a thin Au film, which acts as an upper mirror of the optical interferometer, the amount of deflection of the movable membrane deflected by the change in surface stress can be detected with high sensitivity. To improve the signal at the small membrane deflection region of this biosensor resulting in detection of low concentration molecules, by integrating 50 nm-thick Au half-mirrors, the wavelength selectivity of the optical interferometer has been successfully improved 6.6 times. Furthermore, the peak shift in the reflection spectrum due to the adsorption of bovine serum albumin (BSA) antigen with a concentration of 10 ng ml-l by the antigen-antibody reaction was spectroscopically measured on the fabricated optical interferometer, and the deflection amount of the movable membrane after 10 min treatment was 2.4 times larger than that of nonspecific adsorption with the avidin molecules. This result indicated that the proposed sensor can be used for selective detection of low-concentration target antigen molecules.

  3. Sphingolipid metabolism diseases.

    Science.gov (United States)

    Kolter, Thomas; Sandhoff, Konrad

    2006-12-01

    Human diseases caused by alterations in the metabolism of sphingolipids or glycosphingolipids are mainly disorders of the degradation of these compounds. The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs. Most sphingolipidoses are associated with high mortality. Both, the ratio of substrate influx into the lysosomes and the reduced degradative capacity can be addressed by therapeutic approaches. In addition to symptomatic treatments, the current strategies for restoration of the reduced substrate degradation within the lysosome are enzyme replacement therapy (ERT), cell-mediated therapy (CMT) including bone marrow transplantation (BMT) and cell-mediated "cross correction", gene therapy, and enzyme-enhancement therapy with chemical chaperones. The reduction of substrate influx into the lysosomes can be achieved by substrate reduction therapy. Patients suffering from the attenuated form (type 1) of Gaucher disease and from Fabry disease have been successfully treated with ERT.

  4. Combination of highly nonlinear fiber, an optical bandpass filter, and a Fabry-Perot filter to improve the signal-to-noise ratio of a supercontinuum continuous-wave optical source.

    Science.gov (United States)

    Nan, Yinbo; Huo, Li; Lou, Caiyun

    2005-05-20

    We present a theoretical study of a supercontinuum (SC) continuous-wave (cw) optical source generation in highly nonlinear fiber and its noise properties through numerical simulations based on the nonlinear Schrödinger equation. Fluctuations of pump pulses generate substructures between the longitudinal modes that result in the generation of white noise and then in degradation of coherence and in a decrease of the modulation depths and the signal-to-noise ratio (SNR). A scheme for improvement of the SNR of a multiwavelength cw optical source based on a SC by use of the combination of a highly nonlinear fiber (HNLF), an optical bandpass filter, and a Fabry-Perot (FP) filter is presented. Numerical simulations show that the improvement in modulation depth is relative to the HNLF's length, the 3-dB bandwidth of the optical bandpass filter, and the reflection ratio of the FP filter and that the average improvement in modulation depth is 13.7 dB under specified conditions.

  5. Highly uniform residual layers for arrays of 3D nanoimprinted cavities in Fabry-Pérot-filter-array-based nanospectrometers

    Science.gov (United States)

    Memon, Imran; Shen, Yannan; Khan, Abdullah; Woidt, Carsten; Hillmer, Hartmut

    2016-04-01

    Miniaturized optical spectrometers can be implemented by an array of Fabry-Pérot (FP) filters. FP filters are composed of two highly reflecting parallel mirrors and a resonance cavity. Each filter transmits a small spectral band (filter line) depending on its individual cavity height. The optical nanospectrometer, a miniaturized FP-based spectrometer, implements 3D NanoImprint technology for the fabrication of multiple FP filter cavities in a single process step. However, it is challenging to avoid the dependency of residual layer (RL) thickness on the shape of the printed patterns in NanoImprint. Since in a nanospectrometer the filter cavities vary in height between neighboring FP filters and, thus, the volume of each cavity varies causing that the RL varies slightly or noticeably between different filters. This is one of the few disadvantages of NanoImprint using soft templates such as substrate conformal imprint lithography which is used in this paper. The advantages of large area soft templates can be revealed substantially if the problem of laterally inhomogeneous RLs can be avoided or reduced considerably. In the case of the nanospectrometer, non-uniform RLs lead to random variations in the designed cavity heights resulting in the shift of desired filter lines. To achieve highly uniform RLs, we report a volume-equalized template design with the lateral distribution of 64 different cavity heights into several units with each unit comprising four cavity heights. The average volume of each unit is kept constant to obtain uniform filling of imprint material per unit area. The imprint results, based on the volume-equalized template, demonstrate highly uniform RLs of 110 nm thickness.

  6. Room-Temperature Pressure-Induced Optically-Actuated Fabry-Perot Nanomechanical Resonator with Multilayer Graphene Diaphragm in Air

    Directory of Open Access Journals (Sweden)

    Cheng Li

    2017-11-01

    Full Text Available We demonstrated a miniature and in situ ~13-layer graphene nanomechanical resonator by utilizing a simple optical fiber Fabry-Perot (F-P interferometric excitation and detection scheme. The graphene film was transferred onto the endface of a ferrule with a 125-μm inner diameter. In contrast to the pre-tension induced in membrane that increased quality (Q factor to ~18.5 from ~3.23 at room temperature and normal pressure, the limited effects of air damping on resonance behaviors at 10−2 and 105 Pa were demonstrated by characterizing graphene F-P resonators with open and micro-air-gap cavities. Then in terms of optomechanical behaviors of the resonator with an air micro-cavity configuration using a polished ferrule substrate, measured resonance frequencies were increased to the range of 509–542 kHz from several kHz with a maximum Q factor of 16.6 despite the lower Knudsen number ranging from 0.0002 to 0.0006 in damping air over a relative pressure range of 0–199 kPa. However, there was the little dependence of Q on resonance frequency. Note that compared with the inferior F-P cavity length response to applied pressures due to interfacial air leakage, the developed F-P resonator exhibited a consistent fitted pressure sensitivity of 1.18 × 105 kHz3/kPa with a good linearity error of 5.16% in the tested range. These measurements shed light on the pre-stress-dominated pressure-sensitive mechanisms behind air damping in in situ F-P resonant sensors using graphene or other 2D nanomaterials.

  7. Photonic filtering of microwave signals in the frequency range of 0.01-20 GHz using a Fabry-Perot filter

    Energy Technology Data Exchange (ETDEWEB)

    Aguayo-Rodriguez, G; Zaldivar-Huerta, I E [Instituto Nacional de Astrofisica, Optica y Electronica (INAOE). Sta. Maria Tonantzintla, Pue. Mexico (Mexico); GarcIa-Juarez, A [Depto. de Investigacion en Fisica, Universidad de Sonora (UNISON) Hermosillo, Son. Mexico (Mexico); Rodriguez-Asomoza, J [Depto. de Ingenieria Electronica, Universidad de las Americas-Puebla (UDLA). San Andres Cholula, Pue. Mexico (Mexico); Larger, L; Courjal, N [Laboratoire d' Optique P. M. Duffieux, UMR 6603 CNRS, Institut des Microtechiques de Franche-Comte, FRW 0067, UFR Sciences et Techniques, Universite de Franche-Comte (UFC), Besancon cedex (France)

    2011-01-01

    We demonstrate experimentally the efficiency of tuning of a photonic filter in the frequency range of 0.01 to 20 GHz. The presented work combines the use of a multimode optical source associated with a dispersive optical fiber to obtain the filtering effect. Tunability effect is achieved by the use of a Fabry-Perot filter that allows altering the spectral characteristics of the optical source. Experimental results are validated by means of numerical simulations. The scheme here proposed has a potential application in the field of optical telecommunications.

  8. Time-domain multiplexed high resolution fiber optics strain sensor system based on temporal response of fiber Fabry-Perot interferometers.

    Science.gov (United States)

    Chen, Jiageng; Liu, Qingwen; He, Zuyuan

    2017-09-04

    We developed a multiplexed strain sensor system with high resolution using fiber Fabry-Perot interferometers (FFPI) as sensing elements. The temporal responses of the FFPIs excited by rectangular laser pulses are used to obtain the strain applied on each FFPI. The FFPIs are connected by cascaded couplers and delay fiber rolls for the time-domain multiplexing. A compact optoelectronic system performing closed-loop cyclic interrogation is employed to improve the sensing resolution and the frequency response. In the demonstration experiment, 3-channel strain sensing with resolutions better than 0.1 nε and frequency response higher than 100 Hz is realized.

  9. Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.

    Science.gov (United States)

    Sam, Christine; Li, Fei-Feng; Liu, Shu-Lin

    2015-10-01

    Neurovascular diseases are among the leading causes of mortality and permanent disability due to stroke, aneurysm, and other cardiovascular complications. Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and Marfan syndrome are two neurovascular disorders that affect smooth muscle cells through accumulation of granule and osmiophilic materials and defective elastic fiber formations respectively. Moyamoya disease, hereditary hemorrhagic telangiectasia (HHT), microcephalic osteodysplastic primordial dwarfism type II (MOPD II), and Fabry's disease are disorders that affect the endothelium cells of blood vessels through occlusion or abnormal development. While much research has been done on mapping out mutations in these diseases, the exact mechanisms are still largely unknown. This paper briefly introduces the pathogenesis, genetics, clinical symptoms, and current methods of treatment of the diseases in the hope that it can help us better understand the mechanism of these diseases and work on ways to develop better diagnosis and treatment.

  10. All-optical 1st- and 2nd-order differential equation solvers with large tuning ranges using Fabry-Pérot semiconductor optical amplifiers.

    Science.gov (United States)

    Chen, Kaisheng; Hou, Jie; Huang, Zhuyang; Cao, Tong; Zhang, Jihua; Yu, Yuan; Zhang, Xinliang

    2015-02-09

    We experimentally demonstrate an all-optical temporal computation scheme for solving 1st- and 2nd-order linear ordinary differential equations (ODEs) with tunable constant coefficients by using Fabry-Pérot semiconductor optical amplifiers (FP-SOAs). By changing the injection currents of FP-SOAs, the constant coefficients of the differential equations are practically tuned. A quite large constant coefficient tunable range from 0.0026/ps to 0.085/ps is achieved for the 1st-order differential equation. Moreover, the constant coefficient p of the 2nd-order ODE solver can be continuously tuned from 0.0216/ps to 0.158/ps, correspondingly with the constant coefficient q varying from 0.0000494/ps(2) to 0.006205/ps(2). Additionally, a theoretical model that combining the carrier density rate equation of the semiconductor optical amplifier (SOA) with the transfer function of the Fabry-Pérot (FP) cavity is exploited to analyze the solving processes. For both 1st- and 2nd-order solvers, excellent agreements between the numerical simulations and the experimental results are obtained. The FP-SOAs based all-optical differential-equation solvers can be easily integrated with other optical components based on InP/InGaAsP materials, such as laser, modulator, photodetector and waveguide, which can motivate the realization of the complicated optical computing on a single integrated chip.

  11. Initial daytime and nighttime SOFDI observations of thermospheric winds from Fabry-Perot Doppler shift measurements of the 630-nm OI line-shape profile

    Directory of Open Access Journals (Sweden)

    A. J. Gerrard

    2011-09-01

    Full Text Available In this paper we present both night and day thermospheric wind observations made with the Second-generation, Optimized, Fabry-Perot Doppler Imager (SOFDI, a novel triple-etalon Fabry-Perot interferometer (FPI designed to make 24-h measurements of thermospheric winds from OI 630-nm emission. These results were obtained from the northeastern United States and from under the magnetic equator at Huancayo, Peru and demonstrate the current instrument capability for measurements of Doppler shifts for either night or day. We found the uncertainties in the measurements agree with expected values based upon forward modeling calculations; nighttime wind components having an uncertainty of ~20-m s−1 at 30-min resolution and daytime wind components having an uncertainty of ~70-m s−1 at 20-min resolution. The nighttime uncertainties are typically larger than those seen with traditional single-etalon FPIs, which occur at the cost of being able to achieve daytime measurements. The thermospheric wind measurements from Huancayo replicate recently reported CHAMP zonal winds and are in disagreement with current empirical wind climatologies. In addition, we discuss the incorporation of how multiple point heads in the SOFDI instrument will allow for unique studies of gravity wave activity in future measurements.

  12. Use of complementary and alternative medicine by patients with lysosomal storage diseases.

    Science.gov (United States)

    Balwani, Manisha; Fuerstman, Laura; Desnick, Robert J; Buckley, Brian; McGovern, Margaret M

    2009-10-01

    To evaluate the extent of complementary and alternative medicine use and perceived effectiveness in patients with lysosomal storage diseases. A 26-item survey was distributed to 495 patients with type 1 Gaucher, Fabry, and type B Niemann-Pick diseases who were seen at the Lysosomal Storage Disease Program at the Mount Sinai School of Medicine. Survey responses were entered into an access database and analyzed using descriptive statistics. Surveys were completed by 167 respondents with an overall response rate of 34%. Complementary and alternative medicines were used by 45% of patients with type 1 Gaucher disease, 41% of patients with Fabry disease, and 47% of patients with type B Niemann-Pick for symptoms related to their disease. Complementary and alternative medicines were used most frequently by adult females (55%), in patients who reported having one or more invasive procedures due to their disease, patients who use one or more conventional medical therapies, or those with depression and/or anxiety. Overall perceived effectiveness of complementary and alternative medicine supplements was low; however, complementary and alternative medicine therapies were perceived as effective. Complementary and alternative medicines are commonly used among patients with lysosomal storage diseases. Assessment of the effectiveness of these approaches in the lysosomal storage diseases is needed, and physicians should be aware of complementary and alternative medicine therapies used by patients to evaluate safety and possible drug interactions.

  13. [Skin and chronic kidney disease].

    Science.gov (United States)

    Rizzo, Raffaella; Mancini, Elena; Santoro, Antonio

    2014-01-01

    Kidneys and skin are seldom considered associated, but their relationship is more closer than generally believed. In some immunological diseases (SLE...) and genetic syndromes (tuberous sclerosis, Fabrys disease...) the cutaneous manifestations are integral parts of the clinical picture. In advanced uremia, besides the well-known itching skin lesions, calciphylaxis may appear, a typical example of cutaneous involvement secondary to the metabolic complications (calcium-phosphate imbalance) of the renal disease. Nephrogenic systemic fibrosis appears only in patients with renal failure and it has a very severe prognosis due to the systemic organ involvement. Moreover, there is a heterogeneous group of metabolic diseases, with renal involvement, that may be accompanied by skin lesions, either related to the disease itself or to its complications (diabetes mellitus, porphyrias). In systemic amyloidosis, fibrils may deposit even in dermis leading to different skin lesions. In some heroin abusers, in the presence of suppurative lesions in the sites of needle insertion, renal amyloidosis should be suspected, secondary to the chronic inflammation. Atheroembolic disease is nowadays frequently observed, as a consequence of the increasing number of invasive intravascular manoeuvres. Skin manifestations like livedo reticularis or the blue toe syndrome are the most typical signs, but often renal dysfunction is also present. In all these conditions, the skin lesion may be a first sign, a warning, that should arouse the suspicion of a more complex pathology, even with renal involvement. Being aware of this relationship is fundamental to accelerate the diagnostic process.

  14. Ag-protein plasmonic architectures for surface plasmon-coupled emission enhancements and Fabry-Perot mode-coupled directional fluorescence emission

    Science.gov (United States)

    Badiya, Pradeep Kumar; Patnaik, Sai Gourang; Srinivasan, Venkatesh; Reddy, Narendra; Manohar, Chelli Sai; Vedarajan, Raman; Mastumi, Noriyoshi; Belliraj, Siva Kumar; Ramamurthy, Sai Sathish

    2017-10-01

    We report the use of silver decorated plant proteins as spacer material for augmented surface plasmon-coupled emission (120-fold enhancement) and plasmon-enhanced Raman scattering. We extracted several proteins from different plant sources [Triticum aestivum (TA), Aegle marmelos (AM), Ricinus communis (RC), Jatropha curcas (JC) and Simarouba glauca (SG)] followed by evaluation of their optical properties and simulations to rationalize observed surface plasmon resonance. Since the properties exhibited by protein thin films is currently gaining research interest, we have also carried out simulation studies with Ag-protein biocomposites as spacer materials in metal-dielectric-metal planar microcavity architecture for guided emission of Fabry-Perot mode-coupled fluorescence.

  15. Effect of small variations in the refractive index of the ambient medium on the spectrum of a bent fibre-optic Fabry - Perot interferometer

    International Nuclear Information System (INIS)

    Kulchin, Yurii N; Vitrik, O B; Gurbatov, S O

    2011-01-01

    The phase of light propagating through a bent optical fibre is shown to depend on the refractive index of the medium surrounding the fibre cladding when there is resonance coupling between the guided core mode and cladding modes. This shifts the spectral maxima in the bent fibre-optic Fabry - Perot interferometer. The highest phase and spectral sensitivities achieved with this interferometer configuration are 0.71 and 0.077, respectively, and enable changes in the refractive index of the ambient medium down to 5×10 -6 to be detected. This makes the proposed approach potentially attractive for producing highly stable, precision refractive index sensors capable of solving a wide range of liquid refractometry problems.

  16. Effect of small variations in the refractive index of the ambient medium on the spectrum of a bent fibre-optic Fabry - Perot interferometer

    Energy Technology Data Exchange (ETDEWEB)

    Kulchin, Yurii N; Vitrik, O B; Gurbatov, S O [Institute for Automation and Control Processes, Far-Eastern Branch, Russian Academy of Sciences, Vladivostok (Russian Federation)

    2011-09-30

    The phase of light propagating through a bent optical fibre is shown to depend on the refractive index of the medium surrounding the fibre cladding when there is resonance coupling between the guided core mode and cladding modes. This shifts the spectral maxima in the bent fibre-optic Fabry - Perot interferometer. The highest phase and spectral sensitivities achieved with this interferometer configuration are 0.71 and 0.077, respectively, and enable changes in the refractive index of the ambient medium down to 5 Multiplication-Sign 10{sup -6} to be detected. This makes the proposed approach potentially attractive for producing highly stable, precision refractive index sensors capable of solving a wide range of liquid refractometry problems.

  17. Ground-based Fabry-Perot interferometry of the terrestrial nightglow with a bare charge-coupled device; Remote field site deployment

    International Nuclear Information System (INIS)

    Niciejewski, R.; Killeen, T.L.; Turnbull, M.

    1994-01-01

    The application of Fabry-Perot interferometers (FPIs) to the study of upper atmosphere thermodynamics has largely been restricted by the very low light levels in the terrestrial airglow as well as the limited range in wavelength of photomultiplier tube (PMT) technology. During the past decade, the development of the scientific grade charge-coupled device (CCD) has progressed to the stage in which the detector has become the logical replacement for the PMT. Small fast microcomputers have made it possible to ''upgrade'' the remote field sites which bare CCDs and not only retain the previous capabilities of the existing FPIs but expand the data coverage in both temporal and wavelength domains. The problems encountered and the solutions applied to the deployment of a bare CCD, with data acquisition and image reduction techniques, are discussed. Sample geophysical data determined from the FPI fringe profiles are shown for stations at Peach Mountain, Michigan, and Watson Lake, Yukon Territory

  18. Comparative analysis of frequency and noise characteristics of Fabry – Perot and distributed feedback laser diodes with external optical injection locking

    Energy Technology Data Exchange (ETDEWEB)

    Afonenko, A A; Dorogush, E S [Belarusian State University, Minsk (Belarus); Malyshev, S A; Chizh, A L [B.I. Stepanov Institute of Physics, National Academy of Sciences of Belarus, Minsk (Belarus)

    2015-11-30

    Using a system of coupled travelling wave equations, in the small-signal regime we analyse frequency and noise characteristics of index- or absorption-coupled distributed feedback laser diodes, as well as of Fabry – Perot (FP) laser diodes. It is shown that the weakest dependence of the direct modulation efficiency on the locking frequency in the regime of strong external optical injection locking is exhibited by a FP laser diode formed by highly reflective and antireflective coatings on the end faces of a laser structure. A reduction in the dependence of output characteristics of the laser diode on the locking frequency can be attained by decreasing the reflection coefficient of the antireflective FP mirror. (control of laser radiation parameters)

  19. Simple locking of infrared and ultraviolet diode lasers to a visible laser using a LabVIEW proportional-integral-derivative controller on a Fabry-Perot signal.

    Science.gov (United States)

    Kwolek, J M; Wells, J E; Goodman, D S; Smith, W W

    2016-05-01

    Simultaneous laser locking of infrared (IR) and ultraviolet lasers to a visible stabilized reference laser is demonstrated via a Fabry-Perot (FP) cavity. LabVIEW is used to analyze the input, and an internal proportional-integral-derivative algorithm converts the FP signal to an analog locking feedback signal. The locking program stabilized both lasers to a long term stability of better than 9 MHz, with a custom-built IR laser undergoing significant improvement in frequency stabilization. The results of this study demonstrate the viability of a simple, computer-controlled, non-temperature-stabilized FP locking scheme for our applications, laser cooling of Ca(+) ions, and its use in other applications with similar modest frequency stabilization requirements.

  20. Combined incoherent scatter radar and Fabry-Perot interferometer measurements of frictional heating effects over Millstone Hill during March 7-10, 1989

    International Nuclear Information System (INIS)

    Hagan, M.E.; Sipler, D.P.

    1991-01-01

    The authors introduce a methodology to calculate the effects of frictional heating associated with geomagnetic activity using simultaneous incoherent scatter radar and Fabry-Perot interferometer measurements. Vector measurements of ion drift from radar backscatter and neutral wind from optical shifts in the atomic oxygen red line over Millstone Hill, Massachusetts (43 degree N) for the nights of March 7-10, 1989 are presented and are characterized by the magnetic storm activity which prevailed. They combine these measurements to calculate differences in the ion and neutral velocity fields which approach 350 m/s during the most geomagnetically active period that they monitored near 01 UT on March 9. This velocity difference results in a 110 degree K heating of the ion gas at that time

  1. OCDMA PON supporting ONU inter-networking based on gain-switched Fabry-Pérot lasers with external dual-wavelength injection.

    Science.gov (United States)

    Liu, Jie; Zeng, Duoduo; Guo, Changjian; Xu, Lei; He, Sailing

    2010-10-25

    We propose and demonstrate an OCDMA-PON scheme with optical network unit (ONU) internetworking capability, which utilizes low-cost gain-switched Fabry-Pérot (GS-FP) lasers with external dual-wavelength injection as the pulse sources on the ONU side. The injection-generated optical pulses in two wavelengths from the same GS-FP laser are used separately for the PON uplink transmission and ONU internetworking. Experimental results based on a two-user OCDMA system confirm the feasibility of the proposed scheme. With OCDMA technologies, separate ONU-internetworking groups can be established using different optical codes. We also give experiment results to analyze the performance of the ONU-ONU transmission at different power of interference signals when two ONU-internetworking groups are present in the OCDMA-PON.

  2. Analysis and design of tunable wideband microwave photonics phase shifter based on Fabry-Perot cavity and Bragg mirrors in silicon-on-insulator waveguide.

    Science.gov (United States)

    Qu, Pengfei; Zhou, Jingran; Chen, Weiyou; Li, Fumin; Li, Haibin; Liu, Caixia; Ruan, Shengping; Dong, Wei

    2010-04-20

    We designed a microwave (MW) photonics phase shifter, consisting of a Fabry-Perot filter, a phase modulation region (PMR), and distributed Bragg reflectors, in a silicon-on-insulator rib waveguide. The thermo-optics effect was employed to tune the PMR. It was theoretically demonstrated that the linear MW phase shift of 0-2pi could be achieved by a refractive index variation of 0-9.68x10(-3) in an ultrawideband (about 38?GHz-1.9?THz), and the corresponding tuning resolution was about 6.92 degrees / degrees C. The device had a very compact size. It could be easily integrated in silicon optoelectronic chips and expected to be widely used in the high-frequency MW photonics field.

  3. Precision measurements of gas refractivity by means of a Fabry-Perot interferometer illustrated by the monitoring of radiator refractivity in the DELPHI RICH detectors

    CERN Document Server

    Filippas-Tassos, A; Fokitis, E; Maltezos, S; Patrinos, K

    2002-01-01

    With an updated, flexible, highly efficient and easily installed system we obtained accurate refractivity (n-1) values. This system is a refractometer based on a Fabry-Perot interferometer and was used to monitor the refractivity of DELPHI RICH Cherenkov radiators near the VUV region. By using a Pt-Ne spectral lamp and improved alignment and temperature control, the refractivities of C//5F//1//2 and C//4F//1 //0 have been monitored since 1996. With this light source, selected to have large coherence lengths, we can extract the refractivity at several wavelengths from one data set only. The estimated errors of the refractivity measurements are less than 1.2%, and depend on wavelength and the type of gas used. The various parameters affecting the accuracy of the refractometer are also discussed. Finally, results from special sample refractivity measurements of the liquid radiator (C//6F//1//4) in its gas phase, are presented.

  4. Performance of a Distributed Simultaneous Strain and Temperature Sensor Based on a Fabry-Perot Laser Diode and a Dual-Stage FBG Optical Demultiplexer

    Directory of Open Access Journals (Sweden)

    Shinwon Kang

    2013-11-01

    Full Text Available A simultaneous strain and temperature measurement method using a Fabry-Perot laser diode (FP-LD and a dual-stage fiber Bragg grating (FBG optical demultiplexer was applied to a distributed sensor system based on Brillouin optical time domain reflectometry (BOTDR. By using a Kalman filter, we improved the performance of the FP-LD based OTDR, and decreased the noise using the dual-stage FBG optical demultiplexer. Applying the two developed components to the BOTDR system and using a temperature compensating algorithm, we successfully demonstrated the simultaneous measurement of strain and temperature distributions under various experimental conditions. The observed errors in the temperature and strain measured using the developed sensing system were 0.6 °C and 50 με, and the spatial resolution was 1 m, respectively.

  5. Performance of a distributed simultaneous strain and temperature sensor based on a Fabry-Perot laser diode and a dual-stage FBG optical demultiplexer.

    Science.gov (United States)

    Kim, Suhwan; Kwon, Hyungwoo; Yang, Injae; Lee, Seungho; Kim, Jeehyun; Kang, Shinwon

    2013-11-12

    A simultaneous strain and temperature measurement method using a Fabry-Perot laser diode (FP-LD) and a dual-stage fiber Bragg grating (FBG) optical demultiplexer was applied to a distributed sensor system based on Brillouin optical time domain reflectometry (BOTDR). By using a Kalman filter, we improved the performance of the FP-LD based OTDR, and decreased the noise using the dual-stage FBG optical demultiplexer. Applying the two developed components to the BOTDR system and using a temperature compensating algorithm, we successfully demonstrated the simultaneous measurement of strain and temperature distributions under various experimental conditions. The observed errors in the temperature and strain measured using the developed sensing system were 0.6 °C and 50 με, and the spatial resolution was 1 m, respectively.

  6. Electron density and temperature study of plasmas using a millimeter-wave Fabry-Perot interferometer; Etude de la densite electronique et de la temperature de plasmas a l'aide d'un interferometre Fabry-Perot en ondes millimetriques

    Energy Technology Data Exchange (ETDEWEB)

    Bize, D [Commissariat a l' Energie Atomique, Saclay (France). Centre d' Etudes Nucleaires

    1969-07-01

    The contents of this article, which have been used as a basis for a State doctorate thesis, deal with research into focussing systems of the Fabry-Perot, millimetre wave type. With the help of this equipment, measurements have been made of the electronic density using interferometry in the range from 10{sup 9} to 10{sup 14} electrons/cm{sup 3}, and of the electron temperature by Thomson diffusion, of plasmas formed by laser ionisation and by high frequency. (author) [French] Le contenu de cet article, qui a fait l'objet d'une these d'Etat, se rapporte a l'etude des systemes focalisant de type Fabry-Perot en ondes millimetriques. A l'aide de ces dispositifs, on mesure la densite electronique par interferometrie dans la gamme de densites de 10{sup 9} a 10{sup 14} e/cm{sup 3} et la temperature electronique par diffusion Thomson de plasmas crees par ionisation laser et par haute frequence. (auteur)

  7. Electron density and temperature study of plasmas using a millimeter-wave Fabry-Perot interferometer; Etude de la densite electronique et de la temperature de plasmas a l'aide d'un interferometre Fabry-Perot en ondes millimetriques

    Energy Technology Data Exchange (ETDEWEB)

    Bize, D. [Commissariat a l' Energie Atomique, Saclay (France). Centre d' Etudes Nucleaires

    1969-07-01

    The contents of this article, which have been used as a basis for a State doctorate thesis, deal with research into focussing systems of the Fabry-Perot, millimetre wave type. With the help of this equipment, measurements have been made of the electronic density using interferometry in the range from 10{sup 9} to 10{sup 14} electrons/cm{sup 3}, and of the electron temperature by Thomson diffusion, of plasmas formed by laser ionisation and by high frequency. (author) [French] Le contenu de cet article, qui a fait l'objet d'une these d'Etat, se rapporte a l'etude des systemes focalisant de type Fabry-Perot en ondes millimetriques. A l'aide de ces dispositifs, on mesure la densite electronique par interferometrie dans la gamme de densites de 10{sup 9} a 10{sup 14} e/cm{sup 3} et la temperature electronique par diffusion Thomson de plasmas crees par ionisation laser et par haute frequence. (auteur)

  8. UV Photography Shows Hidden Sun Damage

    Science.gov (United States)

    ... mcat1=de12", ]; for (var c = 0; c UV photography shows hidden sun damage A UV photograph gives ... developing skin cancer and prematurely aged skin. Normal photography UV photography 18 months of age: This boy's ...

  9. Lysosomal storage diseases: current diagnostic and therapeutic options

    International Nuclear Information System (INIS)

    Malinova, V.; Honzik, T.

    2013-01-01

    Lysosomal storage diseases are rare genetic diseases caused by insufficient activity of some of the lysosomal enzymes and/or transport proteins. Initial symptoms may appear any time from the neonatal period to late adulthood; early forms tend to have a severe course with rapid progression and unfavorable prognosis. There is multisystem involvement with continuous progression of symptoms and involvement of metabolically active organs or tissues – the bone marrow, liver, bones, skeletal muscles, myocardium, or CNS. The diagnosis is definitively confirmed by demonstration of reduced activity of the particular enzyme and by mutation analysis. Some of the storage diseases can be effectively treated by intravenous administration of recombinant enzymes or by limiting the amount of the substrate stored. In a small number of lysosomal storage diseases, bone marrow transplantation is successful. Multidisciplinary collaboration, including genetic counselling and prenatal diagnosis in patient families, is required. The first part of the paper deals with general characteristics of lysosomal storage diseases and the most common diseases that are currently treatable in the Czech Republic (Gaucher’s disease, Pompe disease, Fabry disease, Niemann–Pick disease, cholesterol ester storage disease). The second part of the paper deals with mucopolysaccharidase, another group of rare lysosomal storage diseases. (author)

  10. Educational Outreach: The Space Science Road Show

    Science.gov (United States)

    Cox, N. L. J.

    2002-01-01

    The poster presented will give an overview of a study towards a "Space Road Show". The topic of this show is space science. The target group is adolescents, aged 12 to 15, at Dutch high schools. The show and its accompanying experiments would be supported with suitable educational material. Science teachers at schools can decide for themselves if they want to use this material in advance, afterwards or not at all. The aims of this outreach effort are: to motivate students for space science and engineering, to help them understand the importance of (space) research, to give them a positive feeling about the possibilities offered by space and in the process give them useful knowledge on space basics. The show revolves around three main themes: applications, science and society. First the students will get some historical background on the importance of space/astronomy to civilization. Secondly they will learn more about novel uses of space. On the one hand they will learn of "Views on Earth" involving technologies like Remote Sensing (or Spying), Communication, Broadcasting, GPS and Telemedicine. On the other hand they will experience "Views on Space" illustrated by past, present and future space research missions, like the space exploration missions (Cassini/Huygens, Mars Express and Rosetta) and the astronomy missions (Soho and XMM). Meanwhile, the students will learn more about the technology of launchers and satellites needed to accomplish these space missions. Throughout the show and especially towards the end attention will be paid to the third theme "Why go to space"? Other reasons for people to get into space will be explored. An important question in this is the commercial (manned) exploration of space. Thus, the questions of benefit of space to society are integrated in the entire show. It raises some fundamental questions about the effects of space travel on our environment, poverty and other moral issues. The show attempts to connect scientific with

  11. 2008 LHC Open Days Physics: the show

    CERN Multimedia

    2008-01-01

    A host of events and activities await visitors to the LHC Open Days on 5 and 6 April. A highlight will be the physics shows funded by the European Physical Society (EPS), which are set to surprise and challenge children and adults alike! School children use their experience of riding a bicycle to understand how planets move around the sun (Copyright : Circus Naturally) Participating in the Circus Naturally show could leave a strange taste in your mouth! (Copyright : Circus Naturally) The Rino Foundation’s experiments with liquid nitrogen can be pretty exciting! (Copyright: The Rino Foundation)What does a bicycle have in common with the solar system? Have you ever tried to weigh air or visualise sound? Ever heard of a vacuum bazooka? If you want to discover the answers to these questions and more then come to the Physics Shows taking place at the CERN O...

  12. Online Italian fandoms of American TV shows

    Directory of Open Access Journals (Sweden)

    Eleonora Benecchi

    2015-06-01

    Full Text Available The Internet has changed media fandom in two main ways: it helps fans connect with each other despite physical distance, leading to the formation of international fan communities; and it helps fans connect with the creators of the TV show, deepening the relationship between TV producers and international fandoms. To assess whether Italian fan communities active online are indeed part of transnational online communities and whether the Internet has actually altered their relationship with the creators of the original text they are devoted to, qualitative analysis and narrative interviews of 26 Italian fans of American TV shows were conducted to explore the fan-producer relationship. Results indicated that the online Italian fans surveyed preferred to stay local, rather than using geography-leveling online tools. Further, the sampled Italian fans' relationships with the show runners were mediated or even absent.

  13. Show Them You Really Want the Job

    Science.gov (United States)

    Perlmutter, David D.

    2012-01-01

    Showing that one really "wants" the job entails more than just really wanting the job. An interview is part Broadway casting call, part intellectual dating game, part personality test, and part, well, job interview. When there are 300 applicants for a position, many of them will "fit" the required (and even the preferred) skills listed in the job…

  14. A Talk Show from the Past.

    Science.gov (United States)

    Gallagher, Arlene F.

    1991-01-01

    Describes a two-day activity in which elementary students examine voting rights, the right to assemble, and women's suffrage. Explains the game, "Assemble, Reassemble," and a student-produced talk show with five students playing the roles of leaders of the women's suffrage movement. Profiles Elizabeth Cady Stanton, Lucretia Mott, Susan…

  15. Laser entertainment and light shows in education

    Science.gov (United States)

    Sabaratnam, Andrew T.; Symons, Charles

    2002-05-01

    Laser shows and beam effects have been a source of entertainment since its first public performance May 9, 1969, at Mills College in Oakland, California. Since 1997, the Photonics Center, NgeeAnn Polytechnic, Singapore, has been using laser shows as a teaching tool. Students are able to exhibit their creative skills and learn at the same time how lasers are used in the entertainment industry. Students will acquire a number of skills including handling three- phase power supply, operation of cooling system, and laser alignment. Students also acquire an appreciation of the arts, learning about shapes and contours as they develop graphics for the shows. After holography, laser show animation provides a combination of the arts and technology. This paper aims to briefly describe how a krypton-argon laser, galvanometer scanners, a polychromatic acousto-optic modulator and related electronics are put together to develop a laser projector. The paper also describes how students are trained to make their own laser animation and beam effects with music, and at the same time have an appreciation of the operation of a Class IV laser and the handling of optical components.

  16. The Last Great American Picture Show

    NARCIS (Netherlands)

    Elsaesser, Thomas; King, Noel; Horwath, Alexander

    2004-01-01

    The Last Great American Picture Show brings together essays by scholars and writers who chart the changing evaluations of the American cinema of the 1970s, sometimes referred to as the decade of the lost generation, but now more and more recognized as the first New Hollywood, without which the

  17. Enteric neurons show a primary cilium.

    Science.gov (United States)

    Luesma, Ma José; Cantarero, Irene; Castiella, Tomás; Soriano, Mario; Garcia-Verdugo, José Manuel; Junquera, Concepción

    2013-01-01

    The primary cilium is a non-motile cilium whose structure is 9+0. It is involved in co-ordinating cellular signal transduction pathways, developmental processes and tissue homeostasis. Defects in the structure or function of the primary cilium underlie numerous human diseases, collectively termed ciliopathies. The presence of single cilia in the central nervous system (CNS) is well documented, including some choroid plexus cells, neural stem cells, neurons and astrocytes, but the presence of primary cilia in differentiated neurons of the enteric nervous system (ENS) has not yet been described in mammals to the best of our knowledge. The enteric nervous system closely resembles the central nervous system. In fact, the ultrastructure of the ENS is more similar to the CNS ultrastructure than to the rest of the peripheral nervous system. This research work describes for the first time the ultrastructural characteristics of the single cilium in neurons of rat duodenum myenteric plexus, and reviews the cilium function in the CNS to propose the possible role of cilia in the ENS cells. © 2012 The Authors. Published by Foundation for Cellular and Molecular Medicine/Blackwell Publishing Ltd. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

  18. Reality, ficción o show

    Directory of Open Access Journals (Sweden)

    Sandra Ruíz Moreno

    2002-01-01

    Full Text Available Para tener un punto de vista claro y objetivo frente a la polémica establecida en torno al programa “Protagonistas de novela” y la tendiente proliferación de los reality show en las parrillas de programación de la televisión colombiana, se realizó un análisis de texto y contenido de dicho programa, intentando definirlo desde sus posibilidades de realidad, ficción y show. Las unidades de análisis y el estudio de su tratamiento arrojaron un alto contenido que gira en torno a las emociones del ser humano relacionadas con la convivencia, tratadas a manera de show y con algunos aportes textuales de ficción, pero sin su elemento mediador básico, el actor, quitándole toda la posibilidad de tener un tratamiento con la profundidad, distancia y ética que requieren los temas de esta índole. El resultado es un formato que sólo busca altos índices de sintonía y que pertenece más a la denominada televisión “trash”, que a una búsqueda de realidad del hombre y mucho menos de sociedad.

  19. Research and investigation of a communication chain on optical fiber with a Fabry-Perot power diode for the automotive industry

    Science.gov (United States)

    Bacis, Irina Bristena; Vasile, Alexandru; Ionescu, Ciprian; Marghescu, Cristina

    2016-12-01

    The purpose of this paper is to analyze different power devices - emitters of optical flow, from the point of view of optical coupling, emitted optical powers, optical fiber losses and receiver. The research and characterization of the transmission through a power optical system is done using a computer system specialized for the automotive industry. This system/platform can deliver current pulses that are controlled by a computer through a software (it is possible to set different parameters such as pulse repetition frequency, duty cycle, and current intensity). For the experiments a power Fabry Perot 1035 laser diode operating in pulse with μφ 1055 nm, Ith = 40 mA, and Iop =750 mA was used with a single-mode SFM 128 optical fiber and an EM type optical coupler connected through alignment. Two types of measurements were conducted to demonstrate the usefulness of the experimental structure. In the first case the amplitude of the voltage pulses was measured at the output of an optical detector with receiving diode in a built-in amplifier with a 50 kΩ load resistance. In the second stage measurements were conducted to determine the optical power injected in the optical fiber and received at the reception cell of a power meter. Another parameter of optical coupling that can be measured using the experimental structure is irradiation. This parameter is very important to determine the optimum cutting angle of the fiber for continuity welding.

  20. Optofluidic Fabry-Pérot Micro-Cavities Comprising Curved Surfaces for Homogeneous Liquid Refractometry—Design, Simulation, and Experimental Performance Assessment

    Directory of Open Access Journals (Sweden)

    Noha Gaber

    2016-04-01

    Full Text Available In the scope of miniaturized optical sensors for liquid refractometry, this work details the design, numerical simulation, and experimental characterization of a Fabry-Pérot resonator consisting of two deeply-etched silicon cylindrical mirrors with a micro-tube in between holding the liquid analyte under study. The curved surfaces of the tube and the cylindrical mirrors provide three-dimensional light confinement and enable achieving stability for the cavity illuminated by a Gaussian beam input. The resonant optofluidic cavity attains a high-quality factor (Q—over 2800—which is necessary for a sensitive refractometer, not only by providing a sharp interference spectrum peak that enables accurate tracing of the peak wavelengths shifts, but also by providing steep side peaks, which enables detection of refractive index changes by power level variations when operating at a fixed wavelength. The latter method can achieve refractometry without the need for spectroscopy tools, provided certain criteria explained in the details are met. By experimentally measuring mixtures of acetone-toluene with different ratios, refractive index variations of 0.0005 < Δn < 0.0022 could be detected, with sensitivity as high as 5500 μW/RIU.