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  1. [Fabry disease].

    Science.gov (United States)

    Boggio, Paula; Luna, Paula Carolina; Abad, María Eugenia; Larralde, Margarita

    2009-01-01

    Fabry disease is an uncommon, X-linked lysosomal storage disorder, caused by partial or complete deficiency of the enzyme a-galactosidase A. The defect leads to accumulation of uncleaved globotriaosylceramide on the vascular endothelium and visceral tissues, being the skin, heart, kidneys and central nervous system the most affected organs. We performed review of the literature related to the disease and emphasized that early recognition of angiokeratomas and hypohidrosis are key diagnostic signs of this serious disease. We also addressed the need of multidisciplinary assessment of these patients.

  2. Fabry Disease

    Science.gov (United States)

    ... Foundation National Organization for Rare Disorders (NORD) National Tay-Sachs and Allied Diseases Association See all related ... Foundation National Organization for Rare Disorders (NORD) National Tay-Sachs and Allied Diseases Association See all related ...

  3. Genetics Home Reference: Fabry disease

    Science.gov (United States)

    ... AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: ... Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR. Fabry disease: guidelines for the evaluation and ...

  4. Neurological manifestations in Fabry's disease

    DEFF Research Database (Denmark)

    Møller, Anette Torvin; Jensen, Troels Staehelin

    2007-01-01

    Fabry's disease is an X-linked lysosomal storage disorder caused by a defect in the gene that encodes the lysosomal enzyme alpha-galactosidase A. Symptoms arise because of accumulation of globotriaosylceramide in multiple organs, resulting in severely reduced quality of life and premature death....... 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...

  5. 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 the third to fifth decade of life. Some female heterozygotes are asymptomatic, some as severely affected as males. The natural history of Fabry patients includes transitory cerebral ischaemia and strokes, even in very young persons of both genders. The mechanism is partly due to vascular endothelial...... accumulation of GL-3. White matter lesions on MRI occur. Both males and females can be safely treated with enzyme replacement; and thus screening for Fabry disease of young stroke populations should be considered. There are, however, no hard data of treatment effect on mortality and morbidity. The analyses...

  6. 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 the third to fifth decade of life. Some female heterozygotes are asymptomatic, some as severely affected as males. The natural history of Fabry patients includes transitory cerebral ischaemia and strokes, even in very young persons of both genders. The mechanism is partly due to vascular endothelial...... accumulation of GL-3. White matter lesions on MRI occur. Both males and females can be safely treated with enzyme replacement; and thus screening for Fabry disease of young stroke populations should be considered. There are, however, no hard data of treatment effect on mortality and morbidity. The analyses...

  7. Fabry disease in children

    DEFF Research Database (Denmark)

    Borgwardt, Line Gutte; Feldt-Rasmussen, U; Rasmussen, AK

    2013-01-01

    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...... 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......-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...

  8. 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...

  9. 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.

  10. 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.

  11. Fabry disease simulating Crohn's ileitis.

    Science.gov (United States)

    Rubio, Carlos A; Villnow, Elizabeth; Sundelin, Birgitta; Eriksson, Elina; Dolapcsiev, Karoli; Björk, Jan; Befrits, Ragnar; Tengvar, Magnus; Iversen, Henrik

    2014-05-01

    Fabry disease is an inherited (X-linked) lysosomal storage disorder caused by deficiency of α-galactosidase A, leading to accumulation of globotriaosylceramide in various tissues. A 57-year-old male with a family history and laboratory findings of Fabry disease, was consulted for severe abdominal pain, undulating pyrexia, weight loss and diarrhea. The tentative clinical diagnosis of Crohn's ileitis was supported at computed tomographic examination, at laparotomy and at inspection of the resected ileal segment. Histology revealed chronic and acute inflammation, thick-walled occluded vessels, fibrosis and characteristic bi-refringent lamellar deposits of globotriaosylceramide and calcifications. Multi-nucleated giant cells contained phagocytized bi-refringent material. Transmission electron microscopy showed cells with irregular cytoplasmic bodies displaying distinctive zebra-like lamellar structures. It is submitted that the gastrointestinal phenotype of Fabry disease may concur with symptoms resembling abdominal Crohn's disease.

  12. Neurological manifestations in Fabry disease

    Institute of Scientific and Technical Information of China (English)

    Joseph Bruno Bidin Brooks; Yara Dadalti Fragoso

    2016-01-01

    Fabry disease (FD) is a rare, progressive, multisystem and highly debilitating disease. FD is an X-linked lysosome storage disorder that results in α-galactosidase A deifciency. The subsequent accumulation of glycosphingolipids is more evident in vascular endothelium and smooth-muscle cells. The resulting effect of the deposition is generalized inlfammation and vasculopathy, which can also affect the central and peripheral nervous system. FD progresses with kidney dysfunction, angiokeratoma of the skin, cardiomyopathy, cerebrovascular events and neurological disorders. In the present review, the neurological manifestations of FD are summarized with emphasis on cerebral vasculopathy, cochlear nerve dysfunction, psychiatric and cognitive symptoms, autonomic dysfunction and peripheral neuropathy. Enzyme replacement therapy is also discussed in the light of its more prominent effects when administered early in life, which make it essential to diagnose FD as soon as possible.

  13. Cognitive and Psychological Functioning in Fabry Disease

    Science.gov (United States)

    Sigmundsdottir, Linda; Tchan, Michel C.; Knopman, Alex A.; Menzies, Graham C.; Batchelor, Jennifer; Sillence, David O.

    2014-01-01

    Fabry disease is an X-linked lysosomal storage disorder which can result in renal, cardiac, and cerebrovascular disease. Patients are at increased risk of stroke and neuroimaging studies note cerebrovascular pathology. This study provides a cognitive profile of a cohort of individuals with Fabry disease and investigates the impact of pain, age, renal, cardiac, and cerebrovascular functioning on cognition and psychological functioning. Seventeen Fabry patients (12 males) with ages ranging 25 to 60 years (M = 46.6+11.8), and 15 age-matched healthy controls (M = 46.2+12.7) were administered a comprehensive neuropsychological battery. Fabry males demonstrated slower speed of information processing, reduced performance on measures of executive functions (verbal generation, reasoning, problem solving, perseveration), were more likely to show clinically significant reductions, and were more likely to report symptoms of anxiety and depression. Conversely, Fabry females performed at a similar level to controls. Correlational analyses indicated a link between cognitive and clinical measures of disease severity. PMID:25319043

  14. 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...

  15. 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.

  16. Multiple parapelvic cysts in Fabry disease.

    Science.gov (United States)

    Azancot, María A; Vila, Josefa; Domínguez, Carmen; Serres, Xavier; Espinel, Eugenia

    2016-01-01

    Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends to result in delayed diagnosis and treatment. We present the case of a male Fabry disease patient who manifested no angiokeratoma lesions but presented multiple parapelvic cysts and renal failure. The genetic study revealed an alpha-GLA A gene mutation that had not been recorded in the mutations registry. The de novo mutation was not found in his relatives and it was not transmitted to his offspring. The large number and peculiar appearance of the parapelvic cysts led to the diagnosis. Copyright © 2016 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.

  17. Dermatologic Aspects of Fabry Disease

    Directory of Open Access Journals (Sweden)

    Paula C. Luna MD

    2016-09-01

    Full Text Available Isolated angiokeratomas (AKs are common cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse AKs should alert the physician to a possible diagnosis of Fabry disease (FD. Angiokeratomas often do not appear until adolescence or young adulthood. The number of lesions and the extension over the body increase progressively with time, so that generalization and mucosal involvement are frequent. Although rare, FD remains an important diagnosis to consider in patients with AKs, with or without familial history. Dermatologists must have a high index of suspicion, especially when skin features are associated with other earlier symptoms such as acroparesthesia, hypohidrosis, or heat intolerance. Once the diagnosis is established, prompt screening of family members should be performed. In all cases, a multidisciplinary team is necessary for the long-term follow-up and treatment.

  18. Doença de Fabry Fabry disease

    Directory of Open Access Journals (Sweden)

    Paula Boggio

    2009-08-01

    Full Text Available A doença de Fabry é enfermidade de armazenamento lisossômico rara, ligada ao cromossomo-X, causada pela deficiência parcial ou completa da enzima alfagalactosidase A. O defeito resulta no acúmulo de globotriaosilceramida no endotélio vascular e tecidos viscerais, sendo a pele, o coração, os rins e o sistema nervoso central os mais afetados. As autoras realizam revisão da literatura relacionada a essa afecção e ressaltam que o reconhecimento precoce dos angioqueratomas e da hipoidrose constitui sinal-chave no diagnóstico dessa doença grave. Destacam também a necessidade de esses doentes serem avaliados por equipe multidisciplinar.Fabry disease is an uncommon, X-linked lysosomal storage disorder, caused by partial or complete deficiency of the enzyme a-galactosidase A. The defect leads to accumulation of uncleaved globotriaosylceramide on the vascular endothelium and visceral tissues, being the skin, heart, kidneys and central nervous system the most affected organs. We performed review of the literature related to the disease and emphasized that early recognition of angiokeratomas and hypohidrosis are key diagnostic signs of this serious disease. We also addressed the need of multidisciplinary assessment of these patients.

  19. 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.

  20. Arterial Wall Properties and Womersley Flow in Fabry Disease

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    Dimitriadis Emilios

    2002-01-01

    Full Text Available Abstract Background Fabry disease is an X-linked recessive lysosomal storage disease resulting in the cellular accumulation of globotriaosylceramide particularly globotriaosylceramide. The disease is characterized by a dilated vasculopathy with arterial ectasia in muscular arteries and arterioles. Previous venous plethysomographic studies suggest enhanced endothelium-dependent vasodilation in Fabry disease indicating a functional abnormality of resistance vessels. Methods We examined the mechanical properties of the radial artery in Fabry disease, a typical fibro-muscular artery. Eight control subjects and seven patients with Fabry disease had a right brachial arterial line placed allowing real time recording of intra-arterial blood pressure. Real time B-mode ultrasound recordings of the right radial artery were obtained simultaneously allowing calculation of the vessel wall internal and external diameter, the incremental Young's modulus and arterial wall thickness. By simultaneously measurement of the distal index finger-pulse oximetry the pulse wave speed was calculated. From the wave speed and the internal radial artery diameter the volume flow was calculated by Womersley analysis following truncation of the late diastolic phase. Results No significant difference was found between Fabry patients and controls for internal or external arterial diameters, the incremental Young's modulus, the arterial wall thickness, the pulse wave speed and the basal radial artery blood flow. Further, no significant difference was found for the radial artery blood flow in response to intra-arterial acetylcholine or sodium nitroprusside. Both drugs however, elevated the mean arterial flow. Conclusions The current study suggests that no structural or mechanical abnormality exists in the vessel wall of fibro-muscular arteries in Fabry disease. This may indicate that a functional abnormality downstream to the conductance vessels is the dominant feature in

  1. A case of minimal change disease in a Fabry patient.

    Science.gov (United States)

    Zarate, Yuri A; Patterson, Larry; Yin, Hong; Hopkin, Robert J

    2010-03-01

    Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the GLA gene and deficiency in alpha-galactosidase A activity. Glycosphingolipids accumulation causes renal injury that manifests early during childhood as tubular dysfunction and later in adulthood as proteinuria and renal insufficiency. Nephrotic syndrome as the first evidence of Fabry-related kidney damage is rare. We report the case of a teenager with known Fabry disease and normal renal function who developed acute nephrotic syndrome. He was found to have typical glycosphingolipids accumulation with no other findings suggestive of alternative causes of nephrotic syndrome on kidney biopsy. After treatment with enzyme replacement therapy and oral steroids, he went into complete remission from nephrotic syndrome, a response that is atypical for Fabry disease patients who develop heavy proteinuria as a result of longstanding disease and chronic renal injury. The nephrotic syndrome in this patient appears to have developed secondary to minimal change disease. We recommend considering immunotherapy in addition to enzyme replacement therapy in those patients with confirmed Fabry disease and acute nephrotic syndrome with clinical and microscopic findings suggestive of minimal change disease.

  2. Fabry disease, respiratory symptoms, and airway limitation

    DEFF Research Database (Denmark)

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

    2015-01-01

    abnormalities in patients with Fabry disease. Electron microscopy of lung biopsy and induced sputum show lamellar inclusion bodies (Zebra bodies) in the cytoplasm of cells in the airway wall. X-ray and CT scan have shown patchy ground-glass pulmonary infiltrations, fibrosis, and air trapping. Fibrosis diagnosed...

  3. Fabry's disease and psychosis: causality or coincidence?

    Science.gov (United States)

    Gairing, S; Wiest, R; Metzler, S; Theodoridou, A; Hoff, P

    2011-01-01

    A 21-year-old female with Fabry's disease (FD) presented acute psychotic symptoms such as delusions, auditory hallucinations and formal thought disorders. Since the age of 14, she had suffered from various psychiatric symptoms increasing in frequency and intensity. We considered the differential diagnoses of prodromal symptoms of schizophrenia and organic schizophrenia-like disorder. Routine examinations including cognitive testing, electroencephalography and structural magnetic resonance imaging revealed no pathological findings. Additional structural and functional imaging demonstrated a minor CNS involvement of FD, yet without functional limitations. In summary our examination results support the thesis that in the case of our patient a mere coincidence of FD and psychotic symptoms is more likely than a causal connection.

  4. Fabry disease - current treatment and new drug development.

    Science.gov (United States)

    Motabar, Omid; Sidransky, Ellen; Goldin, Ehud; Zheng, Wei

    2010-07-23

    Fabry disease is a rare inherited lysosomal storage disorder caused by a partial or complete deficiency of α-galactosidase A (GLA), resulting in the storage of excess cellular glycosphingolipids. Enzyme replacement therapy is available for the treatment of Fabry disease, but it is a costly, intravenous treatment. Alternative therapeutic approaches, including small molecule chaperone therapy, are currently being explored. High throughput screening (HTS) technologies can be utilized to discover other small molecule compounds, including non-inhibitory chaperones, enzyme activators, molecules that reduce GLA substrate, and molecules that activate GLA gene promoters. This review outlines the current therapeutic approaches, emerging treatment strategies, and the process of drug discovery and development for Fabry disease.

  5. 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

    Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A deficiency. The Fabry Registry is a global clinical effort to collect longitudinal data on FD. In the past, most "carrier" females were usually thought to be clinically unaffected. A systematic effort has ...

  6. Fabry disease presenting with sudden hearing loss and otosclerosis: a case report

    Directory of Open Access Journals (Sweden)

    Felisati Giovanni

    2012-04-01

    Full Text Available Abstract Introduction Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes. Case presentation We describe the case of a 26-year-old European Caucasian man who had Fabry disease and who presented with episodic sudden unilateral hearing loss and was treated with glucocorticoids, pentoxifylline, hyperbaric oxygen, and fluoride because of concomitant audiometric evidence of otosclerosis. This case demonstrates the partial and transient beneficial effect of standard treatment for sudden hearing loss not related to Fabry disease and analyzes the possible connection between typical Fabry disease inner-ear lesions and otosclerosis. Whereas hearing loss has been described in connection with Fabry disease, otosclerosis-associated hearing loss in Fabry disease has not yet been described. Conclusions Although progressive hearing loss in patients with Fabry disease seems to be influenced by replacement therapy, few data concerning treatment of sudden hearing loss are available. The lack of literature concerning the pathogenesis of the otological involvement in Fabry disease makes it impossible to identify a connection between the latter and otosclerosis. Therefore, this report may help to reinforce the importance of a thorough evaluation of hearing in patients with Fabry disease and may be of help with therapeutic decision-making.

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

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    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.

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

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    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.

  9. Prognostic Indicators of Renal Disease Progression in Adults with Fabry Disease: Natural History Data from the Fabry Registry

    NARCIS (Netherlands)

    C. Wanner; J.P. Oliveira; A. Ortiz; M. Mauer; D.P. Germain; G.E. Linthorst; A.L. Serra; L. Marodi; R. Mignani; B. Cianciaruso; B. Vujkovac; R. Lemay; D. Beitner-Johnson; S. Waldek; D.G. Warnock

    2010-01-01

    Background and objectives: These analyses were designed to characterize renal disease progression in untreated adults with Fabry disease. Design, setting, participants, & measurements: Data from the Fabry Registry for 462 untreated adults (121 men and 341 women) who had at least two estimated GFR (e

  10. Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

    Science.gov (United States)

    Bennett, Robin L; Hart, Kimberly A; O'Rourke, Erin; Barranger, John A; Johnson, Jack; MacDermot, Kay D; Pastores, Gregory M; Steiner, Robert D; Thadhani, Ravi

    2002-04-01

    The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.

  11. Involvement of dorsal root ganglia in Fabry's disease.

    Science.gov (United States)

    Gadoth, N; Sandbank, U

    1983-08-01

    Bouts of shooting pain along the extremities are common in the early stages of Fabry's disease. No pathological explanation has been advanced to clarify the mechanism of such pain. In the present case neuronal storage of glycolipid was confined to dorsal root ganglia neurones only. It is suggested that this may explain the shooting pain in Fabry's disease. In hereditary sensory radicular neuropathy, familial dysautonomia, and tabes dorsalis, changes in dorsal root ganglia cells cause similar clinical signs and thus it may be concluded that shooting pains in Fabry's disease may be caused by damage to dorsal root ganglia neurones.

  12. Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy

    Science.gov (United States)

    Fall, Brent; Scott, C. Ronald; Mauer, Michael; Shankland, Stuart; Pippin, Jeffrey; Jefferson, Jonathan A.; Wallace, Eric; Warnock, David; Najafian, Behzad

    2016-01-01

    Chronic kidney disease is a major complication of Fabry disease. Podocytes accumulate globotriaosylceramide inclusions more than other kidney cell types in Fabry patients. Podocyte injury occurs early in age, and is progressive. Since injured podocytes detach into the urine (podocyturia), we hypothesized that podocyturia would increase in Fabry patients and correlate with clinical severity of Fabry nephropathy. Urine specimens from 39 Fabry patients and 24 healthy subjects were evaluated for podocyturia. Most of the Fabry patients and many healthy subjects had podocyturia. The number of podocytes per gram of urine creatinine (UPodo/g Cr) was 3.6 fold greater in Fabry patients (3,741 ± 2796; p = 0.001) than healthy subjects (1,040 ± 972). Fabry patients with normoalbuminuria and normoproteinuria had over 2-fold greater UPodo/g Cr than healthy subjects (p = 0.048). UPodo/gCr was inversely related to eGFR in male patients (r = -0.69, p = 0.003). UPodo/gCr was directly related to urine protein creatinine ratio (r = 0.33; p = 0.04) in all Fabry patients. These studies confirm increased podocyturia in Fabry disease, even when proteinuria and albuminuria are absent. Podocyturia correlates with clinical severity of Fabry nephropathy, and potentially may be of prognostic value. PMID:27992580

  13. Autonomic skin responses in females with Fabry disease

    DEFF Research Database (Denmark)

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

    2009-01-01

    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......, and the cold pressor test; and (3) cutaneous blood flow following capsaicin. The vasoconstrictor response to inspiratory gasp was increased in Fabry patients compared to controls (p = 0.03), while the response to cold and mental stress did not change. Female patients with Fabry disease had a reduced sweat...

  14. Upregulation of inward rectifying currents and Fabry disease neuropathy.

    Science.gov (United States)

    Geevasinga, Nimeshan; Tchan, Michel; Sillence, David; Vucic, Steve

    2012-12-01

    Peripheral neuropathy and neuropathic pain are common clinical manifestations of Fabry disease (FD). Although the mechanisms underlying the development of sensory neuropathy remain to be fully elucidated, a chronic ischemic process was proposed. Consequently, this study utilized axonal excitability techniques to gain further insights into the pathophysiological mechanisms underlying the development of FD neuropathy. Median motor and sensory axonal excitability studies were undertaken in 13 FD patients and results were compared to 19 healthy subjects. A "fanning-in" of threshold electrotonus, suggestive of membrane depolarization, was evident only in motor axons in FD patients. In contrast, the sensory axons exhibited a lower threshold in FD (p < 0.05) and a significantly increased hyperpolarizing current/threshold (I/V) gradient (FD 0.48 ± 0.03; controls, 0.31 ± 0.02, p < 0.001), which correlated with clinical scores of disease severity (Rho = 0.65, p < 0.05), neuropathy (Rho = 0.54, p < 0.05) and neuropathic pain (Rho = 0.56, p < 0.05). These findings indicate that upregulation of I(h) , rather than ischemia, may underlie the sensory symptoms and possibly development of neuropathy in FD. Modulation of sensory I(h) may prove therapeutically useful in Fabry disease.

  15. Screening, diagnosis, and management of patients with Fabry disease

    DEFF Research Database (Denmark)

    Schiffmann, Raphael; Hughes, Derralynn A; Linthorst, Gabor E

    2017-01-01

    Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease and cardiovascular disease. The availability of specific but costly therapy has elevated the profile of this rare condition. This KDIGO conference addressed controversial areas in the diagnosis, screening, a...

  16. Cardiac device implantation in Fabry disease

    Science.gov (United States)

    Sené, Thomas; Lidove, Olivier; Sebbah, Joel; Darondel, Jean-Marc; Picard, Hervé; Aaron, Laurent; Fain, Olivier; Zenone, Thierry; Joly, Dominique; Charron, Philippe; Ziza, Jean-Marc

    2016-01-01

    Abstract The incidence and predictive factors of arrhythmias and/or conduction abnormalities (ACAs) requiring cardiac device (CD) implantation are poorly characterized in Fabry disease (FD). The aim of our retrospective study was to determine the prevalence, incidence, and factors associated with ACA requiring CD implantation in a monocentric cohort of patients with confirmed FD who were followed up in a department of internal medicine and reference center for FD. Forty-nine patients (20M, 29F) were included. Nine patients (4M, 5F; 18%) had at least one episode of ACA leading to device therapy. Six patients (4M/2F) required a pacemaker (PM) for sinus node dysfunction (n = 4) or atrioventricular disease (n = 2). One female patient required an internal cardioverter-defibrillator (ICD) to prevent sudden cardiac death because of nonsustained ventricular tachycardia (nSVT). One female patient required PM-ICD for sinus node dysfunction and nSVT. One patient underwent CD implantation before the diagnosis of FD. The annual rate of CD implantation was estimated at 1.90 per 100 person years. On univariate analysis at the end of the follow-up period, the factors associated with ACAs requiring CD implantation were as follows: delayed diagnosis of FD, delayed initiation of enzyme replacement therapy, age at the last follow-up visit, and severe multiorgan phenotype (hypertrophic cardiomyopathy, chronic kidney disease, and/or sensorineural hearing loss). On multivariate analysis, age at diagnosis of FD and age at the last follow-up visit were independently associated with an increased risk of ACAs requiring CD (P sudden death in patients with FD, regular monitoring is mandatory, especially in patients with a late diagnosis of FD and/or with a severe phenotype. Regular Holter ECGs, therapeutic education of patients, and deliverance of an emergency card including a phenotype summary are crucial in the care of FD patients. Available guidelines for device therapy and the

  17. [Treatment of Fabry disease: Successes, failures, and expectations].

    Science.gov (United States)

    Lidove, Olivier; Barbey, Frédéric; Joly, Dominique

    2016-04-01

    Fabry disease, an X-linked lysosomal storage disease, results from α-galactosidase A deficiency. Two different recombinant enzyme treatments (algalsidase alpha agalsidase beta) have been available since 2001 to treat a disease that affects not only men but also women. Enzyme replacement therapy promotes cell clearance of susbtrate, and improves some clinical parameters (heart, kidney damage, pain, quality of life). However, there is no proven efficacy to date on central nervous system lesions, on cardiac morbidity and mortality, nor on renal damage beyond a certain stage (proteinuria>1g/day and/or estimated glomerular filtration rate<60mL/min/1.73m(2)). In this review, we discuss the potential benefit of an early intervention, the vascular protective measures to be associated with enzyme therapy and their rationale, and some alternative treatments under development, such as chaperones and substrate molecules inhibitors.

  18. A case of Fabry's disease with congenital agammaglobulinemia.

    Science.gov (United States)

    Lee, Ki-Yeol; Jeon, Su-Young; Hong, Jin-Woo; Kim, Sung-Eun; Song, Ki-Hoon; Kim, Young-Hun; Kim, Ki-Ho

    2011-07-01

    Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues. It manifests as progressive multiple organ dysfunctions caused by the deposition of Gb3. On the other hand, congenital agammaglobulinemia is usually caused by mutations in Bruton's tyrosine kinase (Btk) gene with X-linked dominence, suppresses B cell maturation, and causes recurrent pyogenic infections. In former reports, the distance between the loci in the Xq22 region of the human X chromosome was found to be about 69 kilobases. A 23-yr-old man diagnosed with congenital agammaglobulinemia at age 5, showed typical clinical and laboratory and histopathological findings of Fabry's disease. The genetic basis of this combination of the two syndromes was studied in this patient. Here, we report a case of Fabry's disease with congenital agammaglobulinemia.

  19. Fabry disease, a complex pathology not easy to diagnose

    Directory of Open Access Journals (Sweden)

    Paolo Colomba

    2015-12-01

    Full Text Available Fabry disease is a multisystemic lysosomal storage disorder, inherited in an X-linked manner. It is a defect of metabolism of the glycosphingolipids, due to the reduction or absence of the activity of lysosomal enzyme α-galactosidase A. This reduction of activity causes the storage of globotriaosylceramide and derivatives in the lysosomes, triggering a cascade of cellular events, mainly in vascular endothelium. These events are the responsible for the systemic clinical manifestations and the renal, cardiac and cerebrovascular complications, or a combination of them. The symptomatology can lead to the premature death of patient between the fourth or fifth decade of life. The first symptoms can occur at different ages, generally in childhood, with different severity and course. Fabry disease is suspected on the basis of clinical and anamnestic-familial data, and it is confirmed by enzymatic and genetic assays. However, Fabry disease could be a pathology more complex than previously considered, and the diagnostic tests that are currently in use could be not always sufficient to confirm the clinical diagnosis. Probably, other factors could be also involved in the onset of symptomatology. In the last years, the knowledge of the disease is considerably increased but other studies are necessary to make a prompt and reliable diagnosis. An early diagnosis of Fabry disease is essential for the beginning of the enzyme replacement therapy, which can contribute to arrest its progression and improve the quality of life of patients.

  20. 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

  1. 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...... tested for. METHODS AND RESULTS: We evaluated 90 consecutively recruited HCM probands and their relatives. Probands without sarcomere-gene mutations were tested for alpha-galactosidase A gene (GLA) mutations. Of the 90 families, 31 (34%) had sarcomere gene mutations and were therefore excluded...... without sarcomere gene mutations. GLA mutations were found in 3/90 (3%) of HCM families and in 2/20 (10%) of females without sarcomere-gene mutations. None of the probands presented other indices of Fabry disease. This, in combination with putative reversibility of cardiac changes by enzyme replacement...

  2. Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ

    Directory of Open Access Journals (Sweden)

    Ramaswami Uma

    2012-09-01

    Full Text Available Abstract Introduction Common symptoms for children with Anderson-Fabry Disease (FD such as acroparaesthesia and gastrointestinal manifestations can only be objectively assessed in patients using a valid instrument. To date, no such instrument exists. Methods A preliminary 40-item measure of symptoms and experience with FD, the Fabry-specific Paediatric Health and Pain Questionnaire (FPHPQ was developed, but lacked a formal assessment of its measurement properties. The FPHPQ was used in the Fabry Outcome Survey (FOS, a registry for all patients with a confirmed diagnosis of FD who are receiving agalsidase alfa, or are treatment naïve and who are managed by physicians participating in FOS. After an item analysis to explore how items performed and combined into domains, a battery of psychometric analyses was performed to assess the measurement properties of this new instrument. Results Eighty-seven children (ages 4-18 years completed the questionnaire. Twenty-three items in three subscales of the questionnaire emerged: pain associated with heat or exertion, pain associated with cold, and abdominal pain and fatigue symptoms. Internal consistency reliability for all three subscales was good (Cronbach alpha ≥ 0.84. Reliability was equally high for all age groups (4-7, 8-12, and 13-18. Test-retest reliability was high for all three subscales (intraclass correlation coefficient ≥ 0.74. Construct validity was demonstrated by moderate correlation with brief pain inventory (BPI, KINDL, and EQ-5D. Known group validity showed all subscales were able to discriminate between Fabry disease severity groups as classified by above or below median of the FOS MSSI (Mainz Severity Score Index grade. The heat or exertion subscale was responsive to change in symptoms between responders and non-responders as defined by change in EQ-5D index scores between the first and second visit. Conclusions Preliminary results indicate that the measurement properties

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

    Science.gov (United States)

    Ortiz, Alberto; Abiose, Ademola; Bichet, Daniel G; Cabrera, Gustavo; Charrow, Joel; Germain, Dominique P; Hopkin, Robert J; Jovanovic, Ana; Linhart, Aleš; Maruti, Sonia S; Mauer, Michael; Oliveira, João P; Patel, Manesh R; Politei, Juan; Waldek, Stephen; Wanner, Christoph; Yoo, Han-Wook; Warnock, David G

    2016-01-01

    Background Agalsidase β is a form of enzyme replacement therapy for Fabry disease, a genetic disorder characterised by low α-galactosidase A activity, accumulation of glycosphingolipids and life-threatening cardiovascular, renal and cerebrovascular events. In clinical trials, agalsidase β cleared glycolipid deposits from endothelial cells within 6 months; clearance from other cell types required sustained treatment. We hypothesised that there might be a ‘lag time’ to clinical benefit after initiating agalsidase β treatment, and analysed the incidence of severe clinical events over time in patients receiving agalsidase β. Methods The incidence of severe clinical events (renal failure, cardiac events, stroke, death) was studied in 1044 adult patients (641 men, 403 women) enrolled in the Fabry Registry who received agalsidase β (average dose 1 mg/kg every 2 weeks) for up to 5 years. Results The incidence of all severe clinical events was 111 per 1000 person-years (95% CI 84 to 145) during the first 6 months. After 6 months, the incidence decreased and remained stable within the range of 40–58 events per 1000 patient-years. The largest decrease in incidence rates was among male patients and those aged ≥40 years when agalsidase β was initiated. Conclusions Contrary to the expected increased incidence of severe clinical events with time, adult patients with Fabry disease had decreased incidence of severe clinical events after 6 months treatment with agalsidase β 1 mg/kg every 2 weeks. Trial registration number NCT00196742. PMID:26993266

  4. Clinical prodromes of neurodegeneration in Anderson-Fabry disease

    Science.gov (United States)

    Hughes, Derralynn; Milligan, Alan; Richfield, Linda; Reichmann, Heinz; Mehta, Atul; Schapira, Anthony H.V.

    2015-01-01

    Objective: To estimate the prevalence of prodromal clinical features of neurodegeneration in patients with Anderson-Fabry disease (AFD) in comparison to age-matched controls. Methods: This is a single-center, prospective, cross-sectional study in 167 participants (60 heterozygous females and 50 hemizygous males with genetically confirmed AFD, 57 age-matched controls) using a clinical screening program consisting of structured interview, quantitative tests of motor function, and assessments of cognition, depression, olfaction, orthostatic intolerance, pain, REM sleep behavior disorder, and daytime sleepiness. Results: In comparison to age-matched controls (mean age 48.3 years), patients with AFD (mean age 49.0 years) showed slower gait and transfer speed, poorer fine manual dexterity, and lower hand speed, which was independent of focal symptoms due to cerebrovascular disease. Patients with AFD were more severely affected by depression, pain, and daytime sleepiness and had a lower quality of life. These motor and nonmotor manifestations significantly correlated with clinical disease severity. However, patients with AFD did not reveal extrapyramidal motor features or signs of significant cognitive impairment, hyposmia, orthostatic intolerance, or REM sleep behavior disorder, which commonly precede later neurodegenerative disease. In our cohort, there were no differences in neurologic manifestations of AFD between heterozygous females and hemizygous males. Conclusions: Aside from cerebrovascular manifestations and small fiber neuropathy, AFD results in a distinct neurologic phenotype comprising poorer motor performance and specific nonmotor features. In contrast to functional loss of glucocerebrosidase in Gaucher disease, α-galactosidase deficiency in AFD is not associated with a typical cluster of clinical features prodromal for neurodegenerative diseases, such as Parkinson disease. PMID:25762709

  5. 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.

  6. Agalsidase benefits renal histology in young patients with Fabry disease.

    Science.gov (United States)

    Tøndel, Camilla; Bostad, Leif; Larsen, Kristin Kampevold; Hirth, Asle; Vikse, Bjørn Egil; Houge, Gunnar; Svarstad, Einar

    2013-01-01

    The effect of early-onset enzyme replacement therapy on renal morphologic features in Fabry disease is largely unknown. Here, we evaluated the effect of 5 years of treatment with agalsidase alfa or agalsidase beta in 12 consecutive patients age 7-33 years (median age, 16.5 years). We performed renal biopsies at baseline and after 5 years of enzyme replacement therapy; 7 patients had additional biopsies after 1 and 3 years. After a median of 65 months, biopsy findings from all patients showed total clearance of glomerular endothelial and mesangial cell inclusions, and findings from 2 patients showed complete clearance of inclusions from epithelial cells of the distal tubule. The 4 patients who received the highest dose of agalsidase exhibited substantial clearance of podocyte inclusions, and the youngest patient had nearly complete clearance of these inclusions. Linear regression analysis showed a highly significant correlation between podocyte globotriaocylceramide clearance and cumulative agalsidase dose (r=0.804; P=0.002). Microalbuminuria normalized in five patients. In summary, long-term enzyme replacement therapy in young patients can result in complete globotriaocylceramide clearance of mesangial and glomerular endothelial cells across all dosage regimens, and clearance of podocyte inclusions is dose-dependent.

  7. 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.

  8. Analysis of Placental Tissue in Fabry Disease With and Without Enzyme Replacement Therapy

    NARCIS (Netherlands)

    M.G. Bouwman; C.E.M. Hollak; M.A. van den Bergh Weerman; F.A. Wijburg; G.E. Linthorst

    2010-01-01

    There are only a few reports on the histology of placental tissue of pregnancies from mothers with Fabry disease. Fabry disease is a lysosomal disorder caused by alpha-galactosidase A deficiency. Extensive glycosphingolipid (GSL) accumulation in fetal and maternal placenta tissue obtained from a Fab

  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.

  10. Renal histology before and after effective enzyme replacement therapy in a patient with classical Fabry's disease.

    Science.gov (United States)

    Hirashio, S; Taguchi, T; Naito, T; Maki, K; Ogata, S; Taniyama, K; Taniguchi, Y; Yorioka, N

    2009-05-01

    A 38-year-old man underwent renal biopsy because of proteinuria. It revealed swelling and vacuolation of glomerular epithelial cells, as well as myelin-like structures characteristic of Fabry's disease. Detection of decreased plasma activity of alpha-galactosidase A confirmed the diagnosis. Enzyme replacement therapy was provided with recombinant agalsidase-beta, resulting in improvement of his symptoms. When renal biopsy was repeated, specific staining for globotriaosylceramide showed that renal deposits were decreased by enzyme therapy.

  11. 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)

  12. The coincidence of IgA nephropathy and Fabry disease

    Directory of Open Access Journals (Sweden)

    Maixnerová Dita

    2013-01-01

    Full Text Available Abstract Background IgA nephropathy (IgAN is the most common glomerulonephritis, which may also coexist with other diseases. We present two patients with an unusual coincidence of IgAN and Fabry disease (FD. Case presentation A 26 year-old man underwent a renal biopsy in February 2001. Histopathology showed very advanced IgAN and vascular changes as a result of hypertension. Because of his progressive renal insufficiency the patient began hemodialysis in August 2001. By means of the blood spot test screening method the diagnosis of FD was suspected. Low activity of alpha-galactosidase A in the patient’s plasma and leukocytes and DNA analysis confirmed the diagnosis of FD. Enzyme replacement therapy started in July 2004. Then the patient underwent kidney transplantation in November 2005. Currently, his actual serum creatinine level is 250 μmol/l. Other organ damages included hypertrophic cardiomyopathy, neuropathic pain and febrile crisis. After enzyme replacement therapy, myocardial hypertrophy has stabilized and other symptoms have disappeared. No further progression of the disease has been noted. The other patient, a 30 year-old woman, suffered from long-term hematuria with a good renal function. Recently, proteinuria (2.6 g/day appeared and a renal biopsy was performed. Histopathology showed IgAN with remarkably enlarged podocytes. A combination of IgAN and a high suspicion of FD was diagnosed. Electron microscopy revealed dense deposits in paramesangial areas typical for IgAN and podocytes with inclusive zebra bodies and myelin figures characteristic of FD. FD was confirmed by the decreased alpha-galactosidase A activity in plasma and leukocytes and by DNA and RNA analysis. Enzyme replacement therapy and family screening were initiated. Conclusions Our results emphasize the role of complexity in the process of diagnostic evaluation of kidney biopsy samples. Electron microscopy represents an integral part of histopathology, and genetic

  13. 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...... to define European consensus recommendations for the initiation and cessation of ERT in patients with FD. METHODS: A Delphi procedure was conducted with an online survey (n = 28) and a meeting (n = 15). Patient organization representatives were present at the meeting to give their views. Recommendations...

  14. Skin-impedance in Fabry Disease: A prospective, controlled, non-randomized clinical study

    Directory of Open Access Journals (Sweden)

    Lidicker Jeffrey R

    2008-11-01

    Full Text Available Abstract Background We previously demonstrated improved sweating after enzyme replacement therapy (ERT in Fabry disease using the thermo-regularity sweat and quantitative sudomotor axon reflex tests. Skin-impedance, a measure skin-moisture (sweating, has been used in the clinical evaluation of burns and pressure ulcers using the portable dynamic dermal impedance monitor (DDIM system. Methods We compared skin impedance measurements in hemizygous patients with Fabry disease (22 post 3-years of bi-weekly ERT and 5 ERT naive and 22 healthy controls. Force compensated skin-moisture values were used for statistical analysis. Outcome measures included 1 moisture reading of the 100th repetitive reading, 2 rate of change, 3 average of 60–110th reading and 4 overall average of all readings. Results All outcome measures showed a significant difference in skin-moisture between Fabry patients and control subjects (p Conclusion The instrument portability, ease of its use, a relatively short time required for the assessment, and the fact that DDIM system was able to detect the difference in skin-moisture renders the instrument a useful clinical tool.

  15. [Atypical symptoms of Fabry's disease: sudden bilateral deafness, lymphoedema and Lown-Ganong-Levine syndrome].

    Science.gov (United States)

    Undas, Anetta; Ryś, Donata; Wegrzyn, Wojciech; Musiał, Jacek

    2002-11-01

    A 40-year-old man with Fabry disease, confirmed by decreased leukocyte alpha-galactosidase A activity in 2001, complained of sudden bilateral deafness, as evidenced by clinical history and audiometry. Magnetic resonance of the brain revealed features typical of Fabry disease. Other clinical manifestations of the disease included: angiokeratoma, mild proteinuria with normal renal function, lymphoedema of the lower limbs, pre-excitation syndrome, myocardial hypertrophy.

  16. [Fabry's disease: an example of cardiorenal syndrome type 5].

    Science.gov (United States)

    Villa, Gianluca; Romagnoli, Stefano; Sharma, Aashish; Ronco, Claudio

    2017-03-01

    Fabry's disease (FD) is a severe congenital metabolic disorder characterized by the deficient activity of lysosomal exoglycohydrolase alpha-galactosidase, characterized by glycosphingolipid deposition in several cells, such as capillary endothelial cells, renal, cardiac, and nerve cells. As a systemic disease leading to a contemporaneous myocardial and renal dysfunction, FD might be an example of cardiorenal syndrome type 5 (CRS-5). Kidney damage is commonly characterized by proteinuria, isosthenuria and altered tubular function when occurs at the second-third decade, azotemia and end-stage renal disease in third-fifth decade. Beyond the irreversible glomerular, tubular and vascular damages, the podocytes foot process effacement is the major cause of kidney dysfunction. Myocardial damage is usually observed with right and left ventricular hypertrophy, arrhythmias (due to sinus node and conduction system impairment), diastolic dysfunction, congestive heart failure, myocardial ischemia, fibrosis and cardiac death. The enzymatic replacement therapy is essential for the management of FD, as well as the control of renal (with anti-proteinuric agents such as angiotensin-converting enzyme inhibitors- and/or angiotensin II receptor blockers), brain (coated aspirin, clopidogrel and statins to prevent strokes) and heart complications (calcium channel blockers for ischemic cardiomyopathy, warfarin and amiodarone or cardioverter device for arrhythmias). Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.

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

    NARCIS (Netherlands)

    C. Tondel; U. Ramaswami; K.M. Aakre; F. Wijburg; M. Bouwman; E. Svarstad

    2010-01-01

    Methods. Eighty-two examinations were done in 42 children (24 boys, 18 girls) with Fabry disease from three different centres. The mean age was 12.3 years. GFR was measured with iohexol, Cr-51-EDTA or iothalamate, and the mean mGFR was 108 ml/min/1.73 m(2). Results. The widely used original Schwartz

  18. Fabry disease in Spain. Description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS)

    OpenAIRE

    Barba Romero, Miguel Angel; Rivera Gallego, Alberto; Pintos Morell, Guillem

    2011-01-01

    Abstract Aims: Fabry disease (FD) is an X chromosome-linked transmitted lysosomal storage disorder due to the deficient activity of enzyme ?-galactosidase A. This leads to accumulation of neutral glycosphingolipids associated with organ involvement and premature death. We report the clinical characteristics of Spanish patients enrolled on the Fabry Outcome Survey (FOS; an international multicentre registry for the disease) and also compare these data with those from the rest of Eur...

  19. Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses.

    Science.gov (United States)

    Ferraz, Maria J; Kallemeijn, Wouter W; Mirzaian, Mina; Herrera Moro, Daniela; Marques, Andre; Wisse, Patrick; Boot, Rolf G; Willems, Lianne I; Overkleeft, H S; Aerts, J M

    2014-05-01

    Gaucher disease (GD) and Fabry disease (FD) are two relatively common inherited glycosphingolipidoses caused by deficiencies in the lysosomal glycosidases glucocerebrosidase and alpha-galactosidase A, respectively. For both diseases enzyme supplementation is presently used as therapy. Cells and tissues of GD and FD patients are uniformly deficient in enzyme activity, but the two diseases markedly differ in cell types showing lysosomal accumulation of the glycosphingolipid substrates glucosylceramide and globotriaosylceramide, respectively. The clinical manifestation of Gaucher disease and Fabry disease is consequently entirely different and the response to enzyme therapy is only impressive in the case of GD patients. This review compares both glycosphingolipid storage disorders with respect to similarities and differences. Presented is an update on insights regarding pathophysiological mechanisms as well as recently available biochemical markers and diagnostic tools for both disorders. Special attention is paid to sphingoid bases of the primary storage lipids in both diseases. The value of elevated glucosylsphingosine in Gaucher disease and globotriaosylsphingosine in Fabry disease for diagnosis and monitoring of disease is discussed as well as the possible contribution of the sphingoid bases to (patho)physiology. This article is part of a Special Issue entitled New Frontiers in Sphingolipid Biology.

  20. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.

    Science.gov (United States)

    Rombach, S M; Dekker, N; Bouwman, M G; Linthorst, G E; Zwinderman, A H; Wijburg, F A; Kuiper, S; Vd Bergh Weerman, M A; Groener, J E M; Poorthuis, B J; Hollak, C E M; Aerts, J M F G

    2010-09-01

    Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha-Galactosidase A, causing accumulation of globotriaosylceramide and elevated plasma globotriaosylsphingosine (lysoGb3). The diagnostic value and clinical relevance of plasma lysoGb3 concentration was investigated. All male and adult female patients with classical Fabry disease could be discerned by an elevated plasma lysoGb3. In young pre-symptomatic Fabry heterozygotes, lysoGb3 levels can be normal. Individuals carrying the R112H and P60L mutations, without classical Fabry symptoms, showed no elevated plasma lysoGb3. Multiple regression analysis showed that there is no correlation of plasma lysoGb3 concentration with total disease severity score in Fabry males. However, plasma lysoGb3 concentration did correlate with white matter lesions (odds ratio: 6.1 per 100 nM lysoGb3 increase (95% CI: 1.4-25.9, p=0.015). In females, plasma lysoGb3 concentration correlated with overall disease severity. Furthermore, plasma lysoGb3 level was related to left ventricular mass (19.5+/-5.5 g increase per 10 nM lysoGb3 increase; p=0.001). In addition, it was assessed whether lifetime exposure to lysoGb3 correlates with disease manifestations. Male Fabry patients with a high lysoGb3 exposure (>10,000 U), were moderately or severely affected, only one mildly. Female patients with a low exposure (1000 U showed disease complications. Plasma lysoGb3 is useful for the diagnosis of Fabry disease. LysoGb3 is an independent risk factor for development of cerebrovascular white matter lesions in male patients and left ventricular hypertrophy in females. Disease severity correlates with exposure to plasma lysoGb3.

  1. Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

    Directory of Open Access Journals (Sweden)

    Cammisa Marco

    2011-10-01

    Full Text Available Abstract Background Fabry disease is a rare disorder caused by a large variety of mutations in the gene encoding lysosomal alpha-galactosidase. Many of these mutations are unique to individual families. Fabry disease can be treated with enzyme replacement therapy, but a promising novel strategy relies on small molecules, so called "pharmacological chaperones", which can be administered orally. Unfortunately only 42% of genotypes respond to pharmacological chaperones. Results A procedure to predict which genotypes responsive to pharmacological chaperones in Fabry disease has been recently proposed. The method uses a position-specific substitution matrix to score the mutations. Using this method, we have screened public databases for predictable responsive cases and selected nine representative mutations as yet untested with pharmacological chaperones. Mutant lysosomal alpha galactosidases were produced by site directed mutagenesis and expressed in mammalian cells. Seven out of nine mutations responded to pharmacological chaperones. Nineteen other mutations that were tested with pharmacological chaperones, but were not included in the training of the predictive method, were gathered from literature and analyzed in silico. In this set all five mutations predicted to be positive were responsive to pharmacological chaperones, bringing the percentage of responsive mutations among those predicted to be positive and not used to train the classifier to 86% (12/14. This figure differs significantly from the percentage of responsive cases observed among all the Fabry mutants tested so far. Conclusions In this paper we provide experimental support to an "in silico" method designed to predict missense mutations in the gene encoding lysosomal alpha galactosidase responsive to pharmacological chaperones. We demonstrated that responsive mutations can be predicted with a low percentage of false positive cases. Most of the mutations tested to validate the method

  2. Neuro-Otological and Peripheral Nerve Involvement in Fabry Disease

    Science.gov (United States)

    Carmona, Sergio; Weinschelbaum, Romina; Pardal, Ana; Marchesoni, Cintia; Zuberbuhler, Paz; Acosta, Patricia; Cáceres, Guillermo; Kisinovsky, Isaac; Bayón, Luciana; Reisin, Ricardo

    2017-01-01

    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 neuro-otological 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. PMID:28794847

  3. 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

    risk of cerebrovascular disease at a young age in addition to heart and kidney failure. OBJECTIVE: The objective of this study was to assess brain function and structure in the Danish cohort of patients with Fabry disease in a prospective way using 18-fluoro-deoxyglucose (F-18 FDG) positron emission....... CONCLUSION: Our data indicated that, in patients with Fabry disease, MRI is the preferable clinical modality--if applicable--when monitoring cerebral status, as no additional major brain-pathology was detected with FDG-PET.......BACKGROUND: Fabry disease is a rare metabolic glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme α-galactosidase A--leading to cellular accumulation of globotriasylceramide in different organs, vessels, tissues, and nerves. The disease is associated with an increased...

  4. High Variability of Fabry Disease Manifestations in an Extended Italian Family

    Directory of Open Access Journals (Sweden)

    Giuseppe Cammarata

    2015-01-01

    Full Text Available Fabry disease (FD is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL. The impairment of α-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the same family. Eight members showed the exonic mutation M51I in the GLA gene, a disease-causing mutation associated with the atypical phenotype. The clinical history of this family highlights a wide phenotypic variability, in terms of involved organs and severity. The phenotypic variability of two male patients is not related to differences in α-GAL enzymatic activity: though both have no enzymatic activity, the youngest shows severe symptoms, while the eldest is asymptomatic. It is noticeable that for two female patients with the M51I mutation the initial clinical diagnosis was different from FD. One of them was diagnosed with Familial Mediterranean Fever, the other with Multiple Sclerosis. Overall, this study confirms that the extreme variability of the clinical manifestations of FD is not entirely attributable to different mutations in the GLA gene and emphasizes the need to consider other factors or mechanisms involved in the pathogenesis of Fabry Disease.

  5. Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations

    Directory of Open Access Journals (Sweden)

    Neslihan Onenli Mungan

    2015-03-01

    Full Text Available Fabry disease is a rare, X-linked disease, caused by the deficiency of lysosomal and #945;-galactosidase. Clinical fetaures are; acroparesthesia, unexplained fever, hypohidrosis and angiokeratomas. Untreated cases die early from cardiac complications, renal insuffiency or stroke. Currently there is no cure for Fabry disease, enzyme replacement therapy is the only choice in this progressive disease. A 9-year-old boy admitted to the Dermatology Clinic with reddish papular skin lesions, joint pain and anhydrosis. Hystological examination of the skin biopsy revealed angiokeratoma. There was no renal dysfunction or proteinuria. Biochemical confirmation of Fabry disease was made by determining the deficient leukocyte and #945;-galactosidase activity. Subsequently, the patient's molecular analysis was identified a novel nonsense mutation c. 785G>T in the GLA gene. Enzyme replacement therapy with agalsidase beta was started. He is on enzyme replacement therapy for 8 years, significant improvement was obtained in severity and frequency of pain crisis and fatigue. We report this case to emphasize the importance of early diagnosis of Fabry disease restricted to dermatological findings, especially before renal and cardiac involvement occurs, while enzyme replacement therapy is now available. Also this patient is one of the first Fabry patients under enzyme replacement therapy in Turkey. [Cukurova Med J 2015; 40(Suppl 1: 156-160

  6. 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.

  7. Copious Podocyturia without Proteinuria and with Normal Renal Function in a Young Adult with Fabry Disease

    Science.gov (United States)

    Trimarchi, H.; Canzonieri, R.; Muryan, A.; Schiel, A.; Forrester, M.; Karl, A.; Lombi, F.; Andrews, J.; Pomeranz, V.; Rengel, T.; Zotta, E.

    2015-01-01

    The time for starting a patient with Fabry disease on enzyme replacement therapy is still a matter of debate, particularly when no overt classical clinical signs or symptoms are present. With respect to Fabry nephropathy, a dual problem coexists: the reluctance of many nephrologists to start enzyme replacement infusion until signs of renal disease appear as the appearance of proteinuria or an elevation in serum creatinine and the lack of validated biomarkers of early renal damage. In this regard, proteinuria is nowadays considered as an early and appropriate marker of kidney disease and of cardiovascular morbidity and mortality. However, in this report we demonstrate that podocyturia antedates the classical appearance of proteinuria and could be considered as an even earlier biomarker of kidney damage. Podocyturia may be a novel indication for the initiation of therapy in Fabry disease. PMID:26064721

  8. Copious Podocyturia without Proteinuria and with Normal Renal Function in a Young Adult with Fabry Disease

    Directory of Open Access Journals (Sweden)

    H. Trimarchi

    2015-01-01

    Full Text Available The time for starting a patient with Fabry disease on enzyme replacement therapy is still a matter of debate, particularly when no overt classical clinical signs or symptoms are present. With respect to Fabry nephropathy, a dual problem coexists: the reluctance of many nephrologists to start enzyme replacement infusion until signs of renal disease appear as the appearance of proteinuria or an elevation in serum creatinine and the lack of validated biomarkers of early renal damage. In this regard, proteinuria is nowadays considered as an early and appropriate marker of kidney disease and of cardiovascular morbidity and mortality. However, in this report we demonstrate that podocyturia antedates the classical appearance of proteinuria and could be considered as an even earlier biomarker of kidney damage. Podocyturia may be a novel indication for the initiation of therapy in Fabry disease.

  9. Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease.

    Science.gov (United States)

    Altarescu, Gheona; Haim, Shimon; Elstein, Deborah

    2013-11-01

    Stroke and/or white matter lesions (WMLs) are significant in Fabry disease. Polymorphisms of angiotensinogen (AGT), AGT Promoter and angiotensinogen II receptor type 1 (AGTR1) are correlated with WMLs. We compared AGT. AGT Promoter and AGTR1 genotypes to stroke incidence, Fabry-specific [Mainz Severity Score Index (MSSI)] severity score, and neurologic sub-score (n-MSSI). Sixty-three Fabry patients and 49 matched controls plus historic controls were genotyped. Institutional Review Board approval was received. Results. C and/or CC alleles of AGT Promoter and AGTR1 were significantly correlated with stroke and n-MSSI. Findings are suggestive of role of AGT Promoter and AGTR1 genotypes in Fabry phenotypes.

  10. [Globosides as key players in the pathophysiology of Shiga toxin-associated acute kidney failure and Fabry disease].

    Science.gov (United States)

    Porubsky, S

    2014-11-01

    Globosides and their isomeric counterparts isoglobosides belong to the class of neutral glycosphingolipids with an as yet undefined physiological function. In the pathogenesis of human diseases, globosides play an important role as cellular receptors for Shiga toxins which are produced by certain strains of S. dysenteriae and E. coli. In order to elucidate the pathogenesis of Shiga toxin-associated kidney failure, we studied human kidney biopsies and animal models. Our work showed that in patients suffering from Shiga toxin-elicited kidney failure, no complement activation could be demonstrated by immunohistochemical analysis of kidney biopsies. Therefore, complement activation is unlikely to play a major role in mediating thrombotic microangiopathy on exposure to Shiga toxin. Moreover, analysis of the human biopsies and of a murine model of Shiga toxin-associated disease pinpointed acute tubular damage as an important and previously neglected contributor to acute kidney failure in patients infected with Shiga toxin-producing E. coli. Furthermore, globosides play a decisive role in the pathogenesis of Fabry disease which results from a decreased or absent activity of the lysosomal enzyme α-galactosidase A. The results on transgenic mice showed that in vital organs, such as the heart, kidneys and liver, it was possible to revert the phenotype of Fabry disease by eliminating the synthesis of globosides. This implicates that substrate reduction therapy through inhibition of globosides might represent a new therapeutic option for Fabry disease, all the more so as globosides seem to be dispensable.

  11. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

    Directory of Open Access Journals (Sweden)

    Sommer Claudia

    2011-05-01

    Full Text Available Abstract Background Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of lipids in a variety of cell types, including neural cells. Small, unmyelinated nerve fibers are particularly affected and small fiber peripheral neuropathy often clinically manifests at young age. Peripheral pain can be chronic and/or occur as provoked attacks of excruciating pain. Manifestations of dysfunction of small autonomic fibers may include, among others, impaired sweating, gastrointestinal dysmotility, and abnormal pain perception. Patients with Fabry disease often remain undiagnosed until severe complications involving the kidney, heart, peripheral nerves and/or brain have arisen. Methods An international expert panel convened with the goal to provide guidance to clinicians who may encounter unrecognized patients with Fabry disease on how to diagnose these patients early using simple diagnostic tests. A further aim was to offer recommendations to control neuropathic pain. Results We describe the neuropathy in Fabry disease, focusing on peripheral small fiber dysfunction - the hallmark of early neurologic involvement in this disorder. The clinical course of peripheral pain is summarized, and the importance of medical history-taking, including family history, is highlighted. A thorough physical examination (e.g., angiokeratoma, corneal opacities and simple non-invasive sensory perception tests could provide clues to the diagnosis of Fabry disease. Reported early clinical benefits of enzyme replacement therapy include reduction of neuropathic pain, and adequate management of residual pain to a tolerable and functional level can substantially improve the quality of life for patients. Conclusions Our recommendations can assist in diagnosing Fabry small fiber neuropathy early, and offer clinicians guidance in controlling peripheral pain. This is particularly important since management of pain in young patients with

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

    DEFF Research Database (Denmark)

    Prabakaran, Thaneas; Nielsen, Rikke; Larsen, Jakob Vejby;

    2011-01-01

    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 endocy...

  13. Receptor-Mediated Endocytosis of α-Galactosidase A in Human Podocytes in Fabry Disease

    DEFF Research Database (Denmark)

    Prabakaran, Thaneas; Nielsen, Rikke; Larsen, Jakob Vejby;

    2011-01-01

    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 endocy...

  14. [Fabry disease: clinic and enzymatic diagnosis of homozygous and heterozygous. New therapeutic prospects].

    Science.gov (United States)

    Peces, R; Olea, T

    2002-01-01

    Fabry disease is an X-linked recessive lysosomal storage disorder caused by a partial or complete deficiency of alpha-galactosidase A. Intracellular accumulation of globotriaosylceramide, the glycolipid substrate of this enzyme, leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction and early death. Men are predominantly affected but many female carriers have similar clinical involvement, including increased risk of stroke. Physical stigmata, such as angiokeratomas in skin and mucous membranes and characteristic benign corneal abnormalities, facilitate identification of Fabry disease. The finding of a marked decreased activity of (alpha-galactosidase A in plasma, white blood cells or cultured skin fibroblasts confirms the diagnosis. Treatment thus far has been symptomatic only. Etiology-based therapies are being developed that include enzyme replacement therapy, gene therapy, and substrate deprivation. The recently completed double-blind, placebo-controlled trials of intravenous infusions of (alpha-galactosidase A in patients with Fabry disease demonstrated the safety and efficacy of this treatment. We report a family with Fabry disease composed of hemicygous and heterocygous. The propositus developed chronic renal failure and received a cadaver renal transplant, which remained with adequate renal function during 15 years.

  15. 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

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

    DEFF Research Database (Denmark)

    Møller, Anette Torvin; Bach, Flemming Winther; Feldt-Rasmussen, Ulla;

    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...... in skin biopsies in 19 female patients with Fabry disease and 19 sex- and age-matched controls. Diaries, quantitative sensory testing, neurophysiologic tests and skin biopsies were performed. Daily pain was present in 63% of patients, with a median VAS score of 4.0. Tactile detection threshold...... and pressure pain threshold were lower and cold detection thresholds increased in patients. Sensory nerve action potential amplitude and maximal sensory conduction velocity were not different, whereas there was a highly significant reduction in intraepidermal nerve fiber density. We found no correlation...

  17. Home infusion program for Fabry disease: experience with agalsidase alfa in Argentina

    Directory of Open Access Journals (Sweden)

    Isaac Kisinovsky

    2013-02-01

    Full Text Available Fabry disease is an X-linked lysosomal storage disorder caused by inherited deficiency of the enzyme α-galactosidase A. Enzyme replacement treatment using agalsidase alfa significantly reduces pain, improves cardiac function and quality of life, and slows renal deterioration. Nevertheless, it is a life-long treatment which requires regular intravenous infusions and entails a great burden for patients. Our objective was to evaluate retrospectively the safety and tolerability of the home infusion of agalsidase alfa in patients with Fabry disease in Argentina. We evaluated all the patients with Fabry disease who received home infusion with agalsidase alfa 0.2 mg/kg between January 2005 and June 2011. The program included 87 patients; 51 males (mean age: 30 years and 36 females (mean age: 34 years. A total of 5229 infusions (mean: 59 per patient; range: 1-150 were administered. A total of 5 adverse reactions were seen in 5 patients (5.7% of patients and 0.9% of the total number of infusions. All were mild in severity and resolved by reducing the rate of infusion and by using antihistaminics. All these 5 patients were positive for IgG antibodies, but none of them presented IgE antibodies and none suffered an anaphylactic shock. In our group 18 patients were switched from agalsidase beta to agalsidase alfa without complications. Home infusion with agalsidase alfa is safe, well tolerated and is associated to high compliance.

  18. The GREGOR Fabry Perot Interferometer (GFPI), Technical Innovations and Results achieved in 2013

    CERN Document Server

    Puschmann, Klaus Gerhard

    2016-01-01

    This paper shall provide a summary of not yet published technical innovations to the GREGOR Fabry-Perot Interferometer (GFPI) at the 1.5m GREGOR Solar Telescope (Europe's largest solar telescope) that I implemented in 2013 as the Instrument Scientist of the GFPI. It also represents an overview of important and not yet published observational results that I achieved with the GFPI in 2013. The results and achievements can be considered a milestone in the further development, scientific verification and final acceptance of this instrument. The instrument is now in operation and employed by the international scientific community.

  19. Fabry disease : Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry

    NARCIS (Netherlands)

    Eng, C. M.; Fletcher, J.; Wilcox, W. R.; Waldek, S.; Scott, C. R.; Sillence, D. O.; Breunig, F.; Charrow, J.; Germain, D. P.; Nicholls, K.; Banikazemi, M.

    2007-01-01

    The Fabry Registry is a global observational research platform established to define outcome data on the natural and treated course of this rare disorder. Participating physicians submit structured longitudinal data to a centralized, confidential database. This report describes the baseline demograp

  20. 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.)

  1. 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

    therapy (ERT), stabilises specific mutant (amenable) forms of α-Gal to facilitate normal lysosomal trafficking. METHODS: The main objective of the 18-month, randomised, active-controlled ATTRACT study was to assess the effects of migalastat on renal function in patients with Fabry disease previously...... ventricular mass index decreased significantly with migalastat treatment (-6.6 g/m(2) (-11.0 to -2.2)); there was no significant change with ERT. Predefined renal, cardiac or cerebrovascular events occurred in 29% and 44% of patients in the migalastat and ERT groups, respectively. Plasma...... globotriaosylsphingosine remained low and stable following the switch from ERT to migalastat. PROs were comparable between groups. Migalastat was generally safe and well tolerated. CONCLUSIONS: Migalastat offers promise as a first-in-class oral monotherapy alternative treatment to intravenous ERT for patients with Fabry...

  2. Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant

    OpenAIRE

    Lenders, Malte; Weidemann, Frank; Kurschat, Christine; Canaan-Kühl, Sima; Duning, Thomas; Stypmann, Jörg; Schmitz, Boris; Reiermann, Stefanie; Krämer, Johannes; Blaschke, Daniela; Wanner, Christoph; Brand, Stefan-Martin; Brand, Eva

    2016-01-01

    Background Fabry disease (FD) is an X-linked multisystemic disorder with a heterogeneous phenotype. Especially atypical or late-onset type 2 phenotypes present a therapeutical dilemma. Methods To determine the clinical impact of the alpha-Galactosidase A (GLA) p.A143T/ c.427G > A variation, we retrospectively analyzed 25 p.A143T patients in comparison to 58 FD patients with other missense mutations. Results p.A143T patients suffering from stroke/ transient ischemic attacks had slightly decrea...

  3. COMPUTER ASSISTED RETINAL VESSEL TORTUOSITY EVALUATION IN NOVEL MUTATION FABRY DISEASE: Towards New Prognostic Markers.

    Science.gov (United States)

    San Román, Irene; Rodríguez, María-Elena; Caporossi, Orsola; Zoppetti, Claudia; Sodi, Andrea; Mecocci, Alessandro; López, David; Rodríguez, Beatriz; Gimeno, Juan-Ramón

    2017-03-01

    Fabry disease is a rare lysosomal storage disorder with systemic involvement. The authors report on a large Fabry family with GLA p.M187R mutation and exhaustive ophthalmologic assessment. Comprehensive systemic evaluation and genetic diagnosis were performed. Ophthalmologic evaluation included intraocular pressure/visual acuity measurement, refractometry, slit lamp examination, retinography, and optical coherence tomography. Three parameters quantified retinal vessel tortuosity: sum of angle metrics, product of angle distance, and triangular index. Calculations were semiautomatized using dedicated software. Ten individuals (2 males and 8 females) were described. Seventy-five percent had retinal vessel tortuosity. One hundred percent had cornea verticillata. Perimacular vessels were predominantly involved. The correlation between the right and left eye tortuosity measurements was very tight. A significant correlation between retinal vessel tortuosity and systemic severity measured by general Mainz Severity Score Index (MSSI), renal MSSI, and neurological MSSI but no cardiac MSSI was observed. Right sum of angle metrics value was an independent statistical predictor of the general-MSSI score in presence of age. p.M187R mutation causes a severe systemic and ophthalmologic phenotype, in both male and female patients. Semiautomatic assessment of retinal vessel tortuosity is an objective and reproducible tool. All three parameters of tortuosity are closely associated with Fabry severity scores. Studies of larger series are being awaited to establish the role of retinal vessel tortuosity as a noninvasive marker of disease progression.

  4. Evaluación de pacientes con enfermedad de Fabry en la Argentina Evaluation of patients with Fabry disease in Argentina

    Directory of Open Access Journals (Sweden)

    2010-02-01

    Full Text Available La enfermedad de Fabry es un desorden lisosomal de transmisión ligada al cromosoma X debida al déficit de la enzima alfa galactosidasa A, con acumulación multisistémica de globotriaosilceramida y compromiso neurológico, gastrointestinal, cardíaco, renal, dermatológico y oftalmológico. Estudios recientes indican que las mujeres heterocigotas desarrollan síntomas similares a los de los varones, pero no existen en nuestro país datos comparativos respecto de la frecuencia relativa de manifestaciones clínicas, edad de inicio y gravedad entre hombres y mujeres con enfermedad de Fabry. Identificamos 59 pacientes adultos sintomáticos con enfermedad de Fabry: 32 varones (edad media: 34.8 años y 27 mujeres (edad media: 46.6 años. El diagnóstico se hizo por estudios enzimáticos en los hombres y genéticos en las mujeres. Se evaluó la frecuencia y la gravedad de las manifestaciones de la enfermedad. Las manifestaciones más frecuentes fueron acroparestesias, angioqueratomas, hipohidrosis y córnea verticilada; las tres primeras fueron estadísticamente más frecuentes en hombres, en los cuales la gravedad de estos síntomas fue significativamente mayor. Proteinuria e hipertrofia ventricular izquierda fueron hallazgos frecuentes tanto en hombres como en mujeres. Hubo una latencia prolongada entre la edad del inicio y la del diagnóstico de 14 años para varones y 30 para mujeres. La enfermedad de Fabry es una enfermedad subdiagnosticada y potencialmente letal que afecta a ambos sexos. La existencia de reemplazo enzimático obliga a identificar precozmente los síntomas y signos sugestivos de la enfermedad para realizar un diagnóstico y tratamiento precoces.Fabry disease is an X- linked lysosomal disorder due to deficient activity of the enzyme alpha galactosidase A which leads to multisystemic storage of globotriaosylceramide with neurologic, gastrointestinal, cardiac, renal, skin and ophtalmological involvement. Recent studies indicate

  5. Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy.

    Science.gov (United States)

    Takao, Masaki; Mori, Taisuke; Orikasa, Hideki; Oh, Haengphil; Suzuki, Kinuko; Koto, Atsuo; Yamazaki, Kazuto

    2007-09-01

    A 44-year-old Japanese man with elevated growth hormone levels and gradual deterioration of mental and renal function was admitted to the hospital. With his deteriorated general condition and renal failure, the patient developed pulmonary thromboembolism and died of respiratory failure. Autopsy examination was conducted, which revealed abnormal accumulation or intracytoplasmic storage of lipid-rich material in the small blood vessels, kidney, heart, and nervous system. After postmortem pathologic studies, including light-microscopic histochemistry, electron microscopy, and biochemical analysis of the stored lipid contents, a final diagnosis of Fabry disease was made. Histopathologic examination revealed a unique vasculopathy characterized by the presence of abnormal intracytoplasmic lipid inclusions and vascular remodeling. With regard to the clinical presentation of acromegaly, hyperplasia but not adenomatous transformation of the acidophils of the anterior pituitary gland with immunohistochemical detection of growth hormone within the cells was noted. In this case, the complication of acromegaly with hyperplasia of the acidophilic cells of the anterior pituitary gland and the unique vasculopathy causing significant organ failure, mainly of the kidney, heart, and central nervous systems, possibly as a result of microcirculatory failure, are considered to be not incidental findings but to be intimately involved in the pathogenesis of Farby disease.

  6. Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease.

    Directory of Open Access Journals (Sweden)

    Mehdi Namdar

    Full Text Available BACKGROUND: Fabry disease (FD is caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA resulting in the accumulation of globotriaosylsphingosine (Gb3 in a variety of tissues. While GLA deficiency was always considered as the fulcrum of the disease, recent attention shifted towards studying the mechanisms through which Gb3 accumulation in vascular cells leads to endothelial dysfunction and eventually multiorgan failure. In addition to the well-described macrovascular disease, FD is also characterized by abnormalities of microvascular function, which have been demonstrated by measurements of myocardial blood flow and coronary flow reserve. To date, the relative importance of Gb3 accumulation versus GLA deficiency in causing endothelial dysfunction is not fully understood; furthermore, its differential effects on cardiac micro- and macrovascular endothelial cells are not known. METHODS AND RESULTS: In order to assess the effects of Gb3 accumulation versus GLA deficiency, human macro- and microvascular cardiac endothelial cells (ECs were incubated with Gb3 or silenced by siRNA to GLA. Gb3 loading caused deregulation of several key endothelial pathways such as eNOS, iNOS, COX-1 and COX-2, while GLA silencing showed no effects. Cardiac microvascular ECs showed a greater susceptibility to Gb3 loading as compared to macrovascular ECs. CONCLUSIONS: Deregulation of key endothelial pathways as observed in FD vasculopathy is likely caused by intracellular Gb3 accumulation rather than deficiency of GLA. Human microvascular ECs, as opposed to macrovascular ECs, seem to be affected earlier and more severely by Gb3 accumulation and this notion may prove fundamental for future progresses in early diagnosis and management of FD patients.

  7. Morphological features of iPS cells generated from Fabry disease skin fibroblasts using Sendai virus vector (SeVdp).

    Science.gov (United States)

    Kawagoe, Shiho; Higuchi, Takashi; Otaka, Manami; Shimada, Yohta; Kobayashi, Hiroshi; Ida, Hiroyuki; Ohashi, Toya; Okano, Hirotaka J; Nakanishi, Mahito; Eto, Yoshikatsu

    2013-08-01

    We generated iPS cells from human dermal fibroblasts (HDFs) of Fabry disease using a Sendai virus (SeVdp) vector; this method has been established by Nakanishi et al. for pathogenic evaluation. We received SeVdp vector from Nakanishi and loaded it simultaneously with four reprogramming factors (Klf4, Oct4, Sox2, and c-Myc) to HDFs of Fabry disease; subsequently, we observed the presence of human iPS-like cells. The Sendai virus nucleocapsid protein was not detected in the fibroblasts by RT-PCR analysis. Additionally, we confirmed an undifferentiated state, alkaline phosphatase staining, and the presence of SSEA-4, TRA-1-60, and TRA-1-81. Moreover, ultrastructural features of these iPS cells included massive membranous cytoplasmic bodies typical of HDFs of Fabry disease. Thus, we successfully generated human iPS cells from HDFs of Fabry disease that retained the genetic conditions of Fabry disease; also, these abnormal iPS cells could not be easily differentiated into mature cell types such as neuronal cells, cardiomyocytes, etc. because of a massive accumulation of membranous cytoplasmic bodies in lysosomes, possibly the persistent damages of intracellular architecture.

  8. Uric Acid as a Marker of Mortality and Morbidity in Fabry Disease.

    Science.gov (United States)

    Rob, Daniel; Marek, Josef; Dostálová, Gabriela; Goláň, Lubor; Linhart, Aleš

    2016-01-01

    Serum uric acid (UA) elevation is common in patients with cardiovascular, renal and metabolic diseases. However, no study to date has analysed the role of UA in Fabry disease (FD). To evaluate the association between serum UA levels and mortality and morbidity in FD. We conducted a post-hoc analysis of a prospectively followed-up cohort of 124 patients with genetically proven FD. Serum UA levels were acquired at baseline; clinical events and mortality were assessed during regular visits every 6 to 12 months. The primary endpoint was a composite of multiple secondary outcomes: all-cause mortality, adverse cardiovascular events, progression of renal dysfunction and stroke or transient ischaemic attack (TIA). Predictive value was assessed using the Cox proportional hazards model and the Kaplan Meyer estimator. During follow-up of 7.4 ± 3.7 years, 64 (52%) patients reached the primary combined endpoint. Overall, UA levels were significantly associated with combined outcome (p < 0.001) and remained independently associated after correcting for age, sex and estimated glomerular filtration rate (hazard ratio [HR] per 20 μmol/l increase 1.09, 95% confidence interval [95%CI] (1.00-1.19), p = 0.04). UA was associated with overall mortality in univariate analysis (p = 0.021); however, the association did not reach statistical significance after multivariate correction (HR per 20 μmol/l increase 1.07 95%CI 0.93-1.25, p = 0.32). Higher UA levels were also associated with cardiac adverse outcomes, progression of left ventricular hypertrophy and progression of renal dysfunction (ps < 0.001). No association was observed between UA levels and stroke or TIA (p = 0.323). Increased serum UA levels may represent an independent risk factor for adverse clinical outcomes in Fabry patients and are associated with all-cause mortality. UA is a widely available and cheap biomarker that may improve risk stratification of Fabry patients in clinical practice.

  9. The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy.

    Science.gov (United States)

    Niemann, Markus; Breunig, Frank; Beer, Meinrad; Herrmann, Sebastian; Strotmann, Jörg; Hu, Kai; Emmert, Andrea; Voelker, Wolfram; Ertl, Georg; Wanner, Christoph; Weidemann, Frank

    2010-12-01

    Storage of globotriaosylceramides is present in the left and right ventricles of patients with Fabry disease. Improvement of left ventricular morphology and function during enzyme replacement therapy (ERT) has previously been reported. To analyse the effects of long term ERT on right ventricular morphology and function. This was a prospective follow-up of 75 genetically confirmed consecutive Fabry patients for 3.1±1.8 years. According to treatment guidelines the natural history was followed in 18 patients, whereas 57 patients received ERT. Standard echocardiography, strain rate imaging for regional deformation of the right and left ventricle, and magnetic resonance tomography with late enhancement (LE) imaging for the detection of fibrosis were all performed at yearly intervals. Right ventricular hypertrophy was evident in 53 patients (71%) at baseline. A significant positive correlation was found between left and right ventricular wall thickness (r=0.76; pright ventricle. Patients with LE in the left ventricle presented with the lowest right ventricular deformation properties. In contrast to the left ventricle, there was no change in right ventricular wall thickness (baseline 6.9±1.6 mm vs follow-up 6.7±1.5 mm; p=0.44) or systolic strain rate (2.2±0.7/s vs 2.1±0.8/s; p=0.31) during follow-up with ERT. The degree of right ventricular involvement in Fabry disease is related to the left ventricular cardiomyopathy stage. ERT seems to have no direct impact on right ventricular morphology and function.

  10. Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease.

    Science.gov (United States)

    Oder, Daniel; Nordbeck, Peter; Wanner, Christoph

    2016-01-01

    Anderson-Fabry disease is a potentially life-threatening hereditary lysosomal storage disorder taking origin in over 1,000 known pathogenic mutations in the alpha-galactosidase A encoding gene. Over the past 15 years, intravenous replacement therapy of the deficient alpha agalsidase A enzyme has been well-established retarding the progression of a multisystemic disease and organ involvement. Despite this innovative treatment approach, premature deaths still do occur. The response to enzyme replacement therapy (ERT) varies considerably and appears to depend on gender, genotype (classic or later onset/non-classic), stage of disease or age and agalsidase inhibition by anti-agalsidase antibodies. Early ERT treatment at young age, a personalized approach, and adjunctive therapies for specific disease manifestations appear to impact on prognosis and are currently favored with the expectance of more effective intravenous and oral treatments in the short future.

  11. Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT)

    NARCIS (Netherlands)

    G.E. Linthorst; D.P. Germain; C.E.M. Hollak; D. Hughes; A. Rolfs; C. Wanner; A. Mehta

    2011-01-01

    The shortage of enzyme for treatment of Fabry disease has caused anxiety among patients, physicians and governments. Following a request from the European Medicines Agency, consensus was reached on the temporary prioritization of patients for treatment based on disease severity and potential reversi

  12. Social-adaptive and psychological functioning of patients affected by Fabry disease.

    Science.gov (United States)

    Laney, Dawn Alyssia; Gruskin, Daniel J; Fernhoff, Paul M; Cubells, Joseph F; Ousley, Opal Y; Hipp, Heather; Mehta, Ami J

    2010-12-01

    Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficiency of alpha-galactosidase A. In addition to the debilitating physical symptoms of FD, there are also under-recognized and poorly characterized psychiatric features. As a first step toward characterizing psychiatric features of FD, we administered the Achenbach adult self report questionnaire to 30 FD patients and the Achenbach adult behavior checklist questionnaire to 28 partners/parents/friends of FD patients. Data from at least one of the questionnaires were available on 33 subjects. Analysis focused on social-adaptive functioning in various aspects of daily life and on criteria related to the Diagnostic and statistical manual of mental disorders IV (DSM-IV). Adaptive functioning scale values, which primarily measure social and relationship functioning and occupational success, showed that eight FD patients (six female and two male) had mean adaptive functioning deficits as compared to population norms. Greater rates of depression (P personality (P Individuals affected by Fabry disease exhibited social-adaptive functioning deficits that were significantly correlated with anxiety, depression, antisocial behavior, and AD/H problems in a sampling of our male and female patients aged between 18 years and 59 years.

  13. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

    Science.gov (United States)

    Schiffmann, Raphael; Hughes, Derralynn A; Linthorst, Gabor E; Ortiz, Alberto; Svarstad, Einar; Warnock, David G; West, Michael L; Wanner, Christoph

    2017-02-01

    Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease and cardiovascular disease. The availability of specific but costly therapy has elevated the profile of this rare condition. This KDIGO conference addressed controversial areas in the diagnosis, screening, and management of FD, and included enzyme replacement therapy and nonspecific standard-of-care therapy for the various manifestations of FD. Despite marked advances in patient care and improved overall outlook, there is a need to better understand the pathogenesis of this glycosphingolipidosis and to determine the appropriate age to initiate therapy in all types of patients. The need to develop more effective specific therapies was also emphasized.

  14. PrEFiNe Plan: Strategic plan for Fabry diseases in Nephrology.

    Science.gov (United States)

    Del Pino, M D; Ortiz, A; Torra, R; Hernandez, D

    2016-01-01

    Renal failure is one of the main causes of death in patients with Fabry disease (FD). Due to the low prevalence of FD, delayed diagnosis and misdiagnosis, often the correct diagnosis is made when organ damage is already present. Early recognition of the disease would allow the prevention of severe complications and the premature death of patients with FD. We present here the PrEFiNE project, which includes a wide spectrum of activities with the aim of improve knowledge and diagnosis of FD. The project is sponsored by Shire Iberia (http://shireiberica.com/) From January 2016 to the end of 2017 several activities will be carried out, starting with a survey to evaluate current FD knowledge among nephrologists; in addition some studies to assess prevalence of this disease will be performed. One study will include patients receiving dialysis, another study will cover kidney transplant patients, and a pilot study in chronic kidney disease in stage 3-5 predialysis. Also planned is a pharmacoeconomic study to focus on burden of FD. At the same time medical education activities will be conducted both on line and on site. Plan for dissemination will include medical publications and diffusion to media. PrEFiNE Project will finish with the publication of a compilation book on FD in Nephrology including all planned activities and proposing recommendations based on results and detected unmet needs. PrEfiNE Plan will be coordinated by severa scientific committees, one at national level and 10 other regionals comittees, tha will be responsible to ensure the maximum scientific quality of proposed activities. An advisory board will supervise the project. 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. Copyright © 2016 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights

  15. 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

  16. Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.

    Science.gov (United States)

    Manna, Raffaele; Cauda, Roberto; Feriozzi, Sandro; Gambaro, Giovanni; Gasbarrini, Antonio; Lacombe, Didier; Livneh, Avi; Martini, Alberto; Ozdogan, Huri; Pisani, Antonio; Riccio, Eleonora; Verrecchia, Elena; Dagna, Lorenzo

    2017-07-19

    Fever of unknown origin (FUO) is a rather rare clinical syndrome representing a major diagnostic challenge. The occurrence of more than three febrile attacks with fever-free intervals of variable duration during 6 months of observation has recently been proposed as a subcategory of FUO, Recurrent FUO (RFUO). A substantial number of patients with RFUO have auto-inflammatory genetic fevers, but many patients remain undiagnosed. We hypothesize that this undiagnosed subgroup may be comprised of, at least in part, a number of rare genetic febrile diseases such as Fabry disease. We aimed to identify key features or potential diagnostic clues for Fabry disease as a model of rare genetic febrile diseases causing RFUO, and to develop diagnostic guidelines for RFUO, using Fabry disease as an example of inserting other rare diseases in the existing FUO algorithms. An international panel of specialists in recurrent fevers and rare diseases, including internists, infectious disease specialists, rheumatologists, gastroenterologists, nephrologists, and medical geneticists convened to review the existing diagnostic algorithms, and to suggest recommendations for arriving at accurate diagnoses on the basis of available literature and clinical experience. By combining specific features of rare diseases with other diagnostic considerations, guidelines have been designed to raise awareness and identify rare diseases among other causes of FUO. The proposed guidelines may be useful for the inclusion of rare diseases in the diagnostic algorithms for FUO. A wide spectrum of patients will be needed to validate the algorithm in different clinical settings.

  17. One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease

    Science.gov (United States)

    Najafian, Behzad; Tøndel, Camilla; Svarstad, Einar; Sokolovkiy, Alexey; Smith, Kelly; Mauer, Michael

    2016-01-01

    Fabry nephropathy is associated with progressive accumulation of globotriaosylceramide (GL3) in podocytes. Reducing this GL3 burden may reduce podocyte injury. Sensitive methods to quantify podocyte GL3 content may determine whether a given strategy can benefit podocytes in Fabry disease. We developed an unbiased electron microscopic stereological method to estimate the average volume of podocytes and their GL3 inclusions in 6 paired pre- and post-enzyme replacement therapy (ERT) biopsies from 5 men with Fabry disease. Podocyte GL3 content was regularly reduced (average 73%) after 11–12 months of ERT. This was not detectable using a semi-quantitative approach. Parallel to GL3 reduction, podocytes became remarkably smaller (average 63%). These reductions in podocyte GL3 content or size were not significantly correlated with changes in foot process width (FPW). However, FPW after ERT was significantly correlated with the magnitude of the decrease in podocyte GL3 content from baseline to 11–12 months of ERT. Also podocytes exocytosed GL3 inclusions, a phenomenon correlated with their reduction in their GL3 content. Demonstrable after11–12 months, reduction in podocyte GL3 content allows for early assessment of treatment efficacy and shorter clinical trials in Fabry disease. PMID:27081853

  18. Rapid preparation of (3R,4S,5R) polyhydroxylated pyrrolidine-based libraries to discover a pharmacological chaperone for treatment of Fabry disease.

    Science.gov (United States)

    Cheng, Wei-Chieh; Wang, Jen-Hon; Yun, Wen-Yi; Li, Huang-Yi; Hu, Jia-Ming

    2017-01-27

    The rapid discovery of a pharmacological chaperone toward human α-Gal A for the treatment of Fabry disease is described. Two polyhydroxylated pyrrolidines with the (3R,4S,5R) configuration pattern underwent rapid substituent diversity by conjugating the primary aminomethyl moiety of each with a variety of carboxylic acids to generate two libraries (2 × 60 members). Our bioevaluation results showed one member with the (2R,3R,4S,5R) configuration pattern and bearing a 5-cyclohexylpentanoyl group as a substituent moiety possessed sufficient chaperoning capability to rescue α-Gal A activity in the lymphocyte of the N215S Fabry patient-derived cell line and other α-Gal A mutants in COS7 cells.

  19. Impaired Left Atrial Function in Fabry Disease: A Longitudinal Speckle-Tracking Echocardiography Study.

    Science.gov (United States)

    Pichette, Maxime; Serri, Karim; Pagé, Maude; Di, Lu Zhao; Bichet, Daniel G; Poulin, Frédéric

    2017-02-01

    Fabry disease (FD) is characterized by the accumulation of sphingolipids in multiple organs, including the left atrium. It is uncertain if the left atrial (LA) reservoir, conduit, and contractile functions evaluated by speckle-tracking echocardiography are affected in Fabry cardiomyopathy and whether enzyme replacement therapy can improve LA function. In this retrospective cohort study, LA strain, strain rates, and phasic LA volumes were studied in 50 patients with FD and compared with values in 50 healthy control subjects. All three LA phasic functions were altered. Peak positive strain (reservoir function) was 38.9 ± 14.9% versus 46.5 ± 10.9% (P = .004), and late diastolic strain (contractile function) was 12.6 ± 5.9% versus 15.6 ± 5.3% (P = .010). In 15 patients who started enzyme replacement therapy during the study, most of the LA parameters improved at 1-year follow-up (peak positive strain from 32.0 ± 13.5% to 38.0 ± 13.5%, P = .006), whereas there was a trend toward deterioration in 15 patients who never received treatment (peak positive strain from 47.3 ± 10.8% to 41.3 ± 9.3%, P = .058). Nine patients with FD (21%) experienced new-onset atrial fibrillation or stroke during 4-year follow-up. By univariate analysis, peak positive strain and early diastolic strain demonstrated significant associations with clinical events, surpassing conventional echocardiographic parameters and clinical characteristics. LA reservoir, conduit, and contractile functions by speckle-tracking echocardiography were all affected in FD. Enzyme replacement therapy improved LA function. LA strain parameters were associated with atrial fibrillation and stroke. Copyright © 2016 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.

  20. 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.

  1. Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial

    Science.gov (United States)

    Wijburg, Frits A.; Bénichou, Bernard; Bichet, Daniel G.; Clarke, Lorne A.; Dostalova, Gabriela; Fainboim, Alejandro; Fellgiebel, Andreas; Forcelini, Cassiano; An Haack, Kristina; Hopkin, Robert J.; Mauer, Michael; Najafian, Behzad; Scott, C. Ronald; Shankar, Suma P.; Thurberg, Beth L.; Tøndel, Camilla; Tylki-Szymańska, Anna; Ramaswami, Uma

    2015-01-01

    Trial Design This analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial. Methods Males aged 5–18 years with complete α-galactosidase A deficiency, without symptoms of major organ damage, were enrolled in a phase 3B trial evaluating two doses of agalsidase beta. Baseline disease characteristics of 31 eligible patients (median age 12 years) were studied, including cellular globotriaosylceramide (GL-3) accumulation in skin (n = 31) and kidney biopsy (n = 6; median age 15 years; range 13–17 years), renal function, and glycolipid levels (plasma, urine). Results Plasma and urinary GL-3 levels were abnormal in 25 of 30 and 31 of 31 patients, respectively. Plasma lyso-GL-3 was elevated in all patients. GL-3 accumulation was documented in superficial skin capillary endothelial cells (23/31 patients) and deep vessel endothelial cells (23/29 patients). The mean glomerular filtration rate (GFR), measured by plasma disappearance of iohexol, was 118.1 mL/min/1.73 m2 (range 90.4–161.0 mL/min/1.73 m2) and the median urinary albumin/creatinine ratio was 10 mg/g (range 4.0–27.0 mg/g). On electron microscopy, renal biopsy revealed GL-3 accumulation in all glomerular cell types (podocytes and parietal, endothelial, and mesangial cells), as well as in peritubular capillary and non-capillary endothelial, interstitial, vascular smooth muscle, and distal tubules/collecting duct cells. Lesions indicative of early Fabry arteriopathy and segmental effacement of podocyte foot processes were found in all 6 patients. Conclusions These data reveal that in this small cohort of children with Fabry disease, histological evidence of GL-3 accumulation, and cellular and vascular injury are present in renal tissues at very early stages of the disease, and are noted before onset of microalbuminuria and development of

  2. The attenuated/late onset lysosomal storage disorders: Therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease.

    Science.gov (United States)

    Hollak, Carla E M; Weinreb, Neal J

    2015-03-01

    Enzyme replacement therapies have been developed and authorized for commercial use for six different lysosomal storage disorders. For Gaucher disease, Fabry disease and mucopolysaccharidosis type 1, disease-specific treatments have been available for more than a decade. Although long term follow-up data are still sparse, therapeutic goals for patients with Gaucher disease and Fabry disease have been formulated and published for both adults and children. Without adaptation or modification, these goals are often applied in clinical research and in routine patient care across the entire phenotypic spectrum of disease, although in practice, patients commonly manifest high variability in clinical presentation and course of the illness. In this context, establishing goals for the follow-up and treatment of late onset/attenuated phenotypes is particularly challenging. In this chapter, we review current therapeutic goals for Gaucher disease and Fabry disease and discuss approaches for those with attenuated disease manifestations.

  3. 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.

  4. Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis.

    Science.gov (United States)

    Seo, Jiwon; Kim, Minji; Hong, Geu-Ru; Kim, Dae-Seong; Son, Jang-Won; Cho, In Jeong; Shim, Chi Young; Chang, Hyuk-Jae; Ha, Jong-Won; Chung, Namsik

    2016-09-01

    This study aimed to develop a new set of screening criteria that is easily applicable and highly sensitive for the detection of patients at high risk of Fabry disease (FD) among hypertrophic cardiomyopathy (HCM) patients. We prospectively studied 273 consecutive unrelated patients who were referred to HCM clinic for unknown left ventricular hypertrophy. Among the 273 patients, we selected 65 high-risk patients who fulfilled at least one of our newly proposed screening criteria. All 273 patients were assayed for plasma α-galactosidase A (α-GAL A) activity. The new screening criteria were: (1) atypical HCM, (2) history or presence of documented arrhythmia, (3) short PR interval defined as <120 ms on electrocardiogram, and (4) symptoms of autonomic dysfunction. From this screening study, three unrelated patients (4.6%; 2 females and 1 male) were newly diagnosed with FD using α-GAL A activity and mutation analysis of the GLA gene. Using the screening method based on the newly proposed criteria, the prevalence of FD in our HCM population was 4.6% if at least one criterion was met and 18.8% if ⩾3 criteria were met. Therefore, our proposed criteria are easily applicable and highly sensitive for classifying patients at high risk of FD from HCM patients.

  5. Persistent increase in cardiac troponin I in Fabry disease: a case report

    Directory of Open Access Journals (Sweden)

    Schneider Christian

    2011-01-01

    Full Text Available Abstract Background Hypertrophic cardiomyopathy is a frequent manifestation in Fabry disease (FD - an X-linked lysosomal storage disorder caused by reduced activity of the enzyme α-galactosidase A. In FD an elevation of specific cardiac biomarkers, such as cardiac troponin I (cTNI has been reported in case of clinical manifestation suggestive of myocardial ischemia. In diagnosing acute myocardial infarction cTNI is considered the most reliable parameter. Case Presentation In the referred case we present a 59 years old female patient with the diagnosis of FD presenting with persistently increased cTNI level (lowest value 0.46 ng/ml, highest value 0.69 ng/ml; normal range Conclusions Our case report demonstrates a persistent cTNI release in FD with cardiac involvement. Proving the persistence in a symptom free interval, it might be related to a direct damage of myocytes. In FD cTNI could serve as a beneficial long term parameter providing new perspectives for screening strategies.

  6. 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.)

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

    Indian Academy of Sciences (India)

    BIANCA ETHEL GUTIÉRREZ-AMAVIZCA; ANDREAS GAL; ROCÍO ORTÍZ-OROZCO; ULRICH ORTH; ERNESTO PRADO MONTES DE OCA; JAIME PAUL GUTIÉRREZ-AMAVIZCA; LUIS E. FIGUERA

    2017-03-01

    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 Adeficiency leads to Gb3 accumulation in tissues and cells in the body. This pathology is likely to involve multiple systems, but it is generally considered to affect primarily vascular endothelium. In this study, we investigated mutations in the GLA gene, which encodes α-Gal A, in Mexican families with FD. We included seven probands with FD that carried known mutations. We analysed pedigrees of the probands, and performed molecular screening in 65 relatives with the potential of carrying a GLA mutation. Five mutations (P40S, IVS4+4, G328V, R363H, R404del) were detected in seven unrelated Mexican familieswith the classic FD phenotype. Of the 65 relatives examined, 42 (64.6%) had a GLA gene mutation. In summary, among seven Mexican probands with FD, 65 relatives were at risk of carrying a known GLA mutation, and molecular screening identified 42 individuals with the mutation. Thus, our findings showed that it is important to perform molecular analysis in families with FD to detect mutations and to provide accurate diagnoses for individuals that could be affected.

  8. Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry disease.

    Science.gov (United States)

    Krämer, Johannes; Niemann, Markus; Liu, Dan; Hu, Kai; Machann, Wolfram; Beer, Meinrad; Wanner, Christoph; Ertl, Georg; Weidemann, Frank

    2013-06-01

    This cross-sectional study aimed to analyse myocardial deformation in patients with Fabry disease (FD) in order to evaluate speckle tracking as a method for non-invasive determination of myocardial fibrosis. Myocardial fibrosis is common in Fabry cardiomyopathy and is associated with disease progression and severe prognosis. In 101 consecutive Fabry patients (39.8 ± 12.9 years; 42 males), the quantitative measurement of myocardial fibrosis with magnetic resonance imaging was compared with regional myocardial deformation assessed by speckle-tracking imaging. Patients were analysed in relation to per cent of late-enhancement (LE)-positive areas of left-ventricular (LV) mass. Fifty-two patients (51%) displayed LE with a mean volume of 1.2 ± 1.8% of total LV mass. Predominantly basal lateral and posterior segments were affected. Patients with LE had lower global systolic longitudinal strain than those without (LE -14.8 ± 3.5% and -18.9 ± 2.1%, respectively; P speckle tracking, was predominantly caused by basal posterior (P = 0.049) and lateral (P = 0.005) segments and global systolic strain correlated with the amount of LE (r = 0.543; P 2%, n = 22) showed the lowest deformation values (-5.9 ± 8.4%) in basal postero-lateral segments when compared with those with mild (Speckle tracking can be used as a tool for the indirect evaluation of LE in FD.

  9. 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.

  10. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients

    Directory of Open Access Journals (Sweden)

    Chassaing Augustin

    2002-10-01

    Full Text Available Abstract Background Fabry disease (FD, OMIM 301500 is an X-linked inborn error of glycosphingolipid metabolism due to the deficient activity of alpha-galactosidase A, a lysosomal enzyme. While the progressive systemic deposition of uncleaved glycosphingolipids throughout the body is known to have protean clinical manifestations, few data are available regarding the cochlear involvement. Methods We non-invasively investigated cochlear functions in 22 consecutive hemizygous males (age 19–64 years, mean 39 affected with classic FD. Conventional audiometry, tympanometry, ABR audiometry, otoacoustic emissions were performed in all patients, together with medical history record and physical examination as part of an exhaustive baseline evaluation prior to enzyme replacement therapy. Results A total of 12 patients (54.5% with classic FD were found to have abnormal audition. Five patients had progressive hearing loss and seven patients (32% experienced sudden deafness. In addition, a hearing loss on high-tone frequencies was found in 7 out of the 10 remaining patients without clinical impairment, despite their young age at time of examination. The incidence of hearing loss appeared significantly increased in FD patients with kidney failure (P tinnitus aurium was also found in six patients (27%. Conclusion This is the first evidence of a high incidence of both progressive hearing loss and sudden deafness in a cohort of male patients affected with classic Fabry disease. The exact pathophysiologic mechanism(s of the cochlear involvement deserves further studies.

  11. Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction and Switch-2-Year Follow-Up.

    Science.gov (United States)

    Lenders, Malte; Canaan-Kühl, Sima; Krämer, Johannes; Duning, Thomas; Reiermann, Stefanie; Sommer, Claudia; Stypmann, Jörg; Blaschke, Daniela; Üçeyler, Nurcan; Hense, Hans-Werner; Brand, Stefan-Martin; Wanner, Christoph; Weidemann, Frank; Brand, Eva

    2016-03-01

    Because of the shortage of agalsidase-β supply between 2009 and 2012, patients with Fabry disease either were treated with reduced doses or were switched to agalsidase-α. In this observational study, we assessed end organ damage and clinical symptoms with special focus on renal outcome after 2 years of dose-reduction and/or switch to agalsidase-α. A total of 89 adult patients with Fabry disease who had received agalsidase-β (1.0 mg/kg body wt) for >1 year were nonrandomly assigned to continue this treatment regimen (regular-dose group, n=24), to receive a reduced dose of 0.3-0.5 mg/kg and a subsequent switch to 0.2 mg/kg agalsidase-α (dose-reduction-switch group, n=28), or to directly switch to 0.2 mg/kg agalsidase-α (switch group, n=37) and were followed-up for 2 years. We assessed clinical events (death, myocardial infarction, severe arrhythmia, stroke, progression to ESRD), changes in cardiac and renal function, Fabry-related symptoms (pain, hypohidrosis, diarrhea), and disease severity scores. Determination of renal function by creatinine and cystatin C-based eGFR revealed decreasing eGFRs in the dose-reduction-switch group and the switch group. The Mainz Severity Score Index increased significantly in these two groups (P=0.02 and Pswitch or a direct switch to agalsidase-α showed a decline of renal function independent of the eGFR formula used.

  12. 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

    BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene. Deficiency of α-galactosidase A (α-Gal A) causes intracellular accumulations of globotriaosylceramide (GL-3) and related glycosphingolipids in all organs, including the kidney, often leading...... 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...

  13. Oftalmopatía fabry : nuevos marcadores pronósticos para una enfermedad sistémica= Fabry ophthalmopathy: new prognostic markers for a systemic disease

    OpenAIRE

    2016-01-01

    INTRODUCCIÓN: La enfermedad de Fabry es un raro error innato del metabolismo de los glicoesfingolípidos perteneciente al grupo más numeroso de las enfermedades por depósito lisosomal, las lipidosis. Se estima una prevalencia de 1/40000 varones. Sigue un patrón de herencia dominante ligado a X y se origina por mutaciones en el gen GLA (Xq221). Estas mutaciones resultan en una enzima lisosomal α-galactosidasa-A (AGA) con actividad deficiente. El depósito ubícuo de moléculas glicolipídicas...

  14. Home infusion program for Fabry disease: experience with agalsidase alfa in Argentina Programa de infusión domiciliaria para la enfermedad de Fabry: experiencia con agalsidasa alfa en la Argentina

    Directory of Open Access Journals (Sweden)

    Isaac Kisinovsky

    2013-02-01

    Full Text Available Fabry disease is an X-linked lysosomal storage disorder caused by inherited deficiency of the enzyme α-galactosidase A. Enzyme replacement treatment using agalsidase alfa significantly reduces pain, improves cardiac function and quality of life, and slows renal deterioration. Nevertheless, it is a life-long treatment which requires regular intravenous infusions and entails a great burden for patients. Our objective was to evaluate retrospectively the safety and tolerability of the home infusion of agalsidase alfa in patients with Fabry disease in Argentina. We evaluated all the patients with Fabry disease who received home infusion with agalsidase alfa 0.2 mg/kg between January 2005 and June 2011. The program included 87 patients; 51 males (mean age: 30 years and 36 females (mean age: 34 years. A total of 5229 infusions (mean: 59 per patient; range: 1-150 were administered. A total of 5 adverse reactions were seen in 5 patients (5.7% of patients and 0.9% of the total number of infusions. All were mild in severity and resolved by reducing the rate of infusion and by using antihistaminics. All these 5 patients were positive for IgG antibodies, but none of them presented IgE antibodies and none suffered an anaphylactic shock. In our group 18 patients were switched from agalsidase beta to agalsidase alfa without complications. Home infusion with agalsidase alfa is safe, well tolerated and is associated to high compliance.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. La terapia de reemplazo enzimático utilizando agalsidasa alfa reduce significativamente el dolor, mejora la función cardíaca y la calidad de vida y enlentece el deterioro renal. Sin embargo, es un tratamiento de por vida que requiere infusiones intravenosas regulares y supone una gran carga para los pacientes. Nuestro objetivo fue evaluar retrospectivamente la

  15. Right ventricular involvement in patients with Fabry's disease and the effect of enzyme replacement therapy

    Energy Technology Data Exchange (ETDEWEB)

    Wuest, W. [Universitaetsklinikum Erlangen (Germany). Radiologisches Inst.; Machann, W.; Koestler, H.; Hahn, D.; Beer, M. [Universitaetsklinikum Wuerzburg (Germany). Inst. fuer Roentgendiagnostik; Breunig, F.; Weidemann, F.; Wanner, C. [Universitaetsklinikum Wuerzburg (Germany). Medizinische Klinik I

    2011-11-15

    According to echocardiography reports, Fabry cardiomyopathy not only affects the left ventricle (LV) but also the right ventricle (RV). Until now no MRI studies about the effect of enzyme replacement therapy (ERT) on the RV are available. We evaluated the effect of ERT on the RV. In this prospective trial 14 patients with genetically proven Fabry's disease were examined using a 1.5 T MR scanner before ERT and after 13 {+-} 1 months of ERT. All patients underwent cardiac MR imaging and the RV/LV cardiac morphology and function were analyzed. At baseline examination the values were as follows: RV mass 31 {+-} 6 g/m{sup 2}, end-diastolic volume (EDV) 88 {+-} 13 ml/m{sup 2}, end-systolic volume (ESV) 39 {+-} 9 ml/m{sup 2}, stroke volume (SV) 49 {+-} 7 ml/m{sup 2} and ejection fraction (EF) 56 {+-} 5 %. The RV mass and EDV decreased significantly after 13 {+-} 1 months on ERT (mass 27 {+-} 7 g/m{sup 2}, p < 0.05, EDV 76 {+-} 24 ml/m{sup 2}, p < 0.05), with no significant change of ESV (33 {+-} 13 ml/m{sup 2}), SV (43 {+-} 12 ml/m{sup 2}) and EF (57 {+-} 7 %). The LV mass (102 {+-} 26 g/m{sup 2} vs. 94 {+-} 27 g/m{sup 2}, p < 0.05), EDV (76 {+-} 13 ml/m{sup 2} vs. 66 {+-} 22 ml/m{sup 2}, p < 0.05) and ESV (29 {+-} 9 ml/m{sup 2} vs. 23 {+-} 9 ml/m{sup 2}, p < 0.05) decreased significantly while the EF (64 {+-} 7 % vs. 66 {+-} 5 %; p < 0.05) increased significantly. Besides the known beneficial effect on the LV, ERT improves RV mass and EDV. (orig.)

  16. Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females.

    Science.gov (United States)

    Gutiérrez-Amavizca, B E; Orozco-Castellanos, R; R Padilla-Gutiérrez, J; Valle, Y; Figuera, L E

    2014-08-28

    Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis, establishment of inheritance pattern, and early detection of potentially affected relatives. The present study highlights the importance of pedigree analysis in families with FD for identifying other possibly affected relatives and investigating the clinical manifestations. This clinical report included 12 Mexican index cases with confirmed FD diagnosis. We constructed and analyzed their pedigree, and diagnosed FD in 24 affected relatives. Clinical features were similar to those reported for other populations. Pedigree analysis further identified an additional 30 women as possible carriers. We conclude that pedigree construction and analysis is a useful tool to help physicians detect and diagnose relatives at risk for FD, particularly heterozygous females, so that they can receive genetic counseling and early treatment. Mexican families with FD were similar to other populations reported in the literature, and our findings confirmed that heterozygous females can have signs and symptoms ranging from subtle manifestations to the classical severe presentation described in males.

  17. Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease

    Science.gov (United States)

    den-Haan, Helena; Pérez-Sánchez, Horacio; Del Prete, Rosita; Liguori, Ludovica; Cimmaruta, Chiara; Lukas, Jan; Andreotti, Giuseppina

    2016-01-01

    Personalized therapies are required for Fabry disease due to its large phenotypic spectrum and numerous different genotypes. In principle, missense mutations that do not affect the active site could be rescued with pharmacological chaperones. At present pharmacological chaperones for Fabry disease bind the active site and couple a stabilizing effect, which is required, to an inhibitory effect, which is deleterious. By in silico docking we identified an allosteric hot-spot for ligand binding where a drug-like compound, 2,6-dithiopurine, binds preferentially. 2,6-dithiopurine stabilizes lysosomal alpha-galactosidase in vitro and rescues a mutant that is not responsive to a mono-therapy with previously described pharmacological chaperones, 1-deoxygalactonojirimycin and galactose in a cell based assay. PMID:27788225

  18. Fabry disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations.

    Science.gov (United States)

    Larralde, Margarita; Boggio, Paula; Amartino, Hernán; Chamoles, Néstor

    2004-12-01

    To determine the significance of the dermatologic and systemic abnormalities found in 11 patients with Fabry disease (FD) which is an X-linked lysosomal storage disorder caused by the partial or complete deficiency of the alpha-galactosidase A enzyme. This defect leads to the accumulation of uncleaved glycosphingolipids throughout vascular endothelium and visceral tissues. Case series. Pediatric Dermatology Division, Ramos Mejia Hospital (primary care center) and Laboratory of Neurochemistry (referral center for metabolic diseases). Eleven patients with FD were studied: 6 hemizygous men (mean age, 23.0 years) and 5 heterozygous women (mean age, 49.4 years). Mucocutaneous angiokeratomas (AKs) were found in 5 (83%) of 6 hemizygotes and 4 (80%) of 5 heterozygotes. The AKs appeared at an average age of 13 years, affecting predominantly genitalia, back, elbows, and other frequently traumatized areas. All the hemizygotes and none of the heterozygotes suffered from hypohidrosis. Angiokeratomas on the trunk and oral mucosa without sweat abnormalities were detected in 80% of heterozygous women. All hemizygotic men presented with acral pain in childhood. We emphasize the value of early recognition of AKs and hypohidrosis as diagnostic clues to FD, a severe and progressive disorder.

  19. Anti-BlyS antibody reduces the immune reaction against enzyme and enhances the efficacy of enzyme replacement therapy in Fabry disease model mice.

    Science.gov (United States)

    Sato, Yohei; Ida, Hiroyuki; Ohashi, Toya

    2017-02-02

    Formation of antibodies against a therapeutic enzyme is an important complication during enzyme replacement therapy (ERT) for lysosomal storage diseases. Fabry disease (FD) is caused by a deficiency of alpha-galactosidase (GLA), which results in the accumulation of globotriaosylceramide (GL-3). We have shown immune tolerance induction (ITI) during ERT in FD model mice by using an anti-B lymphocyte stimulator (anti-BlyS) antibody (belimumab). A single dose of the anti-BlyS antibody temporarily lowered the percentage of B cells and IgG antibody titer against recombinant human GLA. Administration of a low maintenance dose of the anti-BlyS antibody suppressed the B cell population and immunotolerance was induced in 20% of mice, but antibody formation could not be prevented. We then increased the maintenance dose of the anti-BlyS antibody and immunotolerance was induced in 50% of mice. Therapeutic enzyme distribution and clearance of GL-3 were also enhanced by a high maintenance dose of the anti-BlyS antibody.

  20. Investigation of multiple organ involvement in Fabry disease%法布里病患者多器官病变的临床特点分析

    Institute of Scientific and Technical Information of China (English)

    张巍; 康曼德; 赵亚雯; 李凡; 舒俊龙; 左越焕; 刘靖; 黄一宁; 袁云

    2015-01-01

    Objective To investigate incidence and clinical features of multiple organ involvement in Chinese patients with Fabry disease.Methods We collected 151 patients of 31 families with Fabry disease,all of whom were confirmed by classic pathology,decreased α-galactosidase A activity or GLA mutation from the year of 2011 to 2014 in Department of Neurology,Peking University First Hospital.The clinical data included incidence and onset of neuralgia,renal dysfunction,heart disease,hypertension and cerebral stroke.We calculate the incidence of these symptoms and analyze their gender difference using chisquare with SPSS 17.0 software.Results Among 31 families with Fabry disease,151 patients (82 males and 69 females) were affected,including 91 patients (60.26%) with neuralgia,62 patients (41.06%) with renal disease,33 patients (21.85%) with heart disease,33 patients (21.85%) with hypertension,and 21 patients (13.91%) with cerebral stroke.The peak incidence of neuralgia was from 10 to 20 years old,followed by renal disease from 30 to 40 years old,heart disease and stroke from 40 to 50 years old.There is no peak period for hypertension.Except for males with higher incidence of renal dysfunction than females (P < 0.05),there were no gender difference in the incidence of other organ involvement.Conclusion The incidence and onset of multiple organ dysfunction in Chinese patients with Fabry disease displayed special regularity.Gender difference appeared only in renal disease.%目的 总结我国法布里病患者多器官病变的发生率和临床表现特点.方法 收集北京大学第一医院神经内科2001-2014年依据病理改变、α-半乳糖苷酶活性A测定和GLA基因突变检查确诊的31个法布里病家系发病者的临床资料,统计其神经痛、肾脏病变、心脏病变、高血压病和脑卒中的发生率和起病时间,使用SPSS 17.0统计软件对男女患者不同器官损害的发生率进行x2检验,比较男女患者上述

  1. 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.

  2. The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations

    Directory of Open Access Journals (Sweden)

    Valentina Citro

    2016-12-01

    Full Text Available Fabry disease is caused by mutations in the GLA gene and is characterized by a large genotypic and phenotypic spectrum. Missense mutations pose a special problem for graduating diagnosis and choosing a cost-effective therapy. Some mutants retain enzymatic activity, but are less stable than the wild type protein. These mutants can be stabilized by small molecules which are defined as pharmacological chaperones. The first chaperone to reach clinical trial is 1-deoxygalactonojirimycin, but others have been tested in vitro. Residual activity of GLA mutants has been measured in the presence or absence of pharmacological chaperones by several authors. Data obtained from transfected cells correlate with those obtained in cells derived from patients, regardless of whether 1-deoxygalactonojirimycin was present or not. The extent to which missense mutations respond to 1-deoxygalactonojirimycin is variable and a reference table of the results obtained by independent groups that is provided with this paper can facilitate the choice of eligible patients. A review of other pharmacological chaperones is provided as well. Frequent mutations can have residual activity as low as one-fourth of normal enzyme in vitro. The reference table with residual activity of the mutants facilitates the identification of non-pathological variants.

  3. The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations

    Science.gov (United States)

    Citro, Valentina; Cammisa, Marco; Liguori, Ludovica; Cimmaruta, Chiara; Lukas, Jan; Cubellis, Maria Vittoria; Andreotti, Giuseppina

    2016-01-01

    Fabry disease is caused by mutations in the GLA gene and is characterized by a large genotypic and phenotypic spectrum. Missense mutations pose a special problem for graduating diagnosis and choosing a cost-effective therapy. Some mutants retain enzymatic activity, but are less stable than the wild type protein. These mutants can be stabilized by small molecules which are defined as pharmacological chaperones. The first chaperone to reach clinical trial is 1-deoxygalactonojirimycin, but others have been tested in vitro. Residual activity of GLA mutants has been measured in the presence or absence of pharmacological chaperones by several authors. Data obtained from transfected cells correlate with those obtained in cells derived from patients, regardless of whether 1-deoxygalactonojirimycin was present or not. The extent to which missense mutations respond to 1-deoxygalactonojirimycin is variable and a reference table of the results obtained by independent groups that is provided with this paper can facilitate the choice of eligible patients. A review of other pharmacological chaperones is provided as well. Frequent mutations can have residual activity as low as one-fourth of normal enzyme in vitro. The reference table with residual activity of the mutants facilitates the identification of non-pathological variants. PMID:27916943

  4. Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

    Directory of Open Access Journals (Sweden)

    Germain Dominique P

    2012-11-01

    Full Text Available Abstract Background Fabry disease (FD is a genetic disorder resulting from deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A, which leads to globotriaosylceramide (GL-3 accumulation in multiple tissues. We report on the safety and pharmacodynamics of migalastat hydrochloride, an investigational pharmacological chaperone given orally at 150 mg every-other-day. Methods Two open-label uncontrolled phase 2 studies of 12 and 24 weeks (NCT00283959 and NCT00283933 in 9 males with FD were combined. At multiple time points, α-Gal A activity and GL-3 levels were quantified in blood cells, kidney and skin. GL-3 levels were also evaluated through skin and renal histology. Results Compared to baseline, increased α-Gal A activity of at least 50% was demonstrated in blood, skin and kidney in 6 of 9 patients. Patients’ increased α-Gal A activities paralleled the α-Gal A increases observed in vitro in HEK-293 cells transfected with the corresponding mutant form of the enzyme. The same 6 patients who demonstrated increases of α-Gal A activity also had GL-3 reduction in skin, urine and/or kidney, and had α-Gal A mutations that responded in transfected cells incubated with the drug. The 3 patients who did not show a consistent response in vivo had α-Gal A mutations that did not respond to migalastat HCl in transfected cells. Migalastat HCl was well tolerated. Conclusions Migalastat HCl is a candidate pharmacological chaperone that provides a novel genotype-specific treatment for FD. It enhanced α-Gal A activity and resulted in GL-3 substrate decrease in patients with responsive GLA mutations. Phase 3 studies are ongoing. Trial registration Clinicaltrial.gov: NCT00283959 and NCT00283933

  5. Kidney transplantation from a mother with unrecognized Fabry disease to her son with low α-galactosidase A activity: A 14-year follow-up without enzyme replacement therapy.

    Science.gov (United States)

    Odani, Keiko; Okumi, Masayoshi; Honda, Kazuho; Ishida, Hideki; Tanabe, Kazunari

    2016-07-01

    We report a case of kidney transplantation from mother to son, both of whom were likely to have had an unrecognized renal variant phenotype of Fabry disease. The patient was a 54-year-old man, with an unknown primary cause of end stage renal disease. He had no notable past medical history, other than end stage renal disease. He underwent living-related kidney transplantation from his mother at age 40 years. Foam cells in the glomeruli were identified on histology assessment of a 0-hour allograft biopsy, with zebra bodies identified in the glomerular visceral epithelial cells by electron microscopy. These findings were indicative of Fabry disease in the donated kidney. As a definitive diagnosis of Fabry's disease could not be confirmed, enzyme replacement therapy was not initiated. Thirteen years after kidney transplantation, the patient underwent left nephrectomy for a left renal tumour, with pathological findings of clear cell carcinoma, foam cells and zebra bodies in the native kidney. Detailed examinations identified low α-galactosidase A activity and mutation of the α-Gal A gene, confirming a diagnosis of a renal variant phenotype of Fabry disease. Histology of several allograft biopsies performed over the 14 years from the time of kidney transplantation revealed only moderate interstitial fibrosis and tubular atrophy, with no evidence of disease progression on electron microscopy, despite the presence of zebra bodies in the glomerular visceral epithelial cells.

  6. Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS.

    Science.gov (United States)

    Byeon, Seul Kee; Kim, Jin Yong; Lee, Jin-Sung; Moon, Myeong Hee

    2016-03-01

    A deficiency of α-galactosidase A causes Fabry disease (FD) by disrupting lipid metabolism, especially trihexosylceramide (THC). Enzyme replacement therapy (ERT) is clinically offered to FD patients in an attempt to lower the accumulated lipids. Studies on specific types of lipids that are directly or indirectly altered by FD are very scarce, even though they are crucial in understanding the biological process linked to the pathogenesis of FD. We performed a comprehensive lipid profiling of plasma and urinary lipids from FD patients with nanoflow liquid chromatography electrospray-ionization tandem mass spectrometry (nLC-ESI-MS/MS) and identified 129 plasma and 111 urinary lipids. Among these, lipids that exhibited alternations (>twofold) in patients were selected as targets for selected reaction monitoring (SRM)-based high-speed quantitation using nanoflow ultra-performance LC-ESI-MS/MS (nUPLC-ESI-MS/MS) and 31 plasma and 26 urinary lipids showed significant elevation among FD patients. Higher percentages of sphingolipids (SLs; 48% for plasma and 42% for urine) were highly elevated in patients; whereas, a smaller percentage of phospholipids (PLs; 15% for plasma and 13% for urine) were significantly affected. Even though α-galactosidase A is reported to affect THC only, the results show that other classes of lipids (especially SLs) are changed as well, indicating that FD not only alters metabolism of THC but various classes of lipids too. Most lipids showing significant increases in relative amounts before ERT decreased after ERT, but overall, ERT influenced plasma lipids more than urinary lipids.

  7. Distributed Fabry-Perot Measurement System

    Institute of Scientific and Technical Information of China (English)

    WENG Jian-hua

    2003-01-01

    The theoretic analysis indicates that if the lengths of the cascaded and paralleled Fabry-Perot sensors are properly selected, the crosstalk can be well restricted.And the experiment simulation results agree with that of the theoretic analysis.

  8. Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer

    Directory of Open Access Journals (Sweden)

    Choi Jin-Ok

    2010-04-01

    Full Text Available Abstract Background Enzyme replacement therapy (ERT with α-galactosidase A (α-Gal A is currently the most effective therapeutic strategy for patients with Fabry disease, a lysosomal storage disease. However, ERT has limitations of a short half-life, requirement for frequent administration, and limited efficacy for patients with renal failure. Therefore, we investigated the efficacy of recombinant adeno-associated virus (rAAV vector-mediated gene therapy for a Fabry disease mouse model and compared it with that of ERT. Methods A pseudotyped rAAV2/8 vector encoding α-Gal A cDNA (rAAV2/8-hAGA was prepared and injected into 18-week-old male Fabry mice through the tail vein. The α-Gal A expression level and globotriaosylceramide (Gb3 levels in the Fabry mice were examined and compared with Fabry mice with ERT. Immunohistochemical and ultrastructural studies were conducted. Results Treatment of Fabry mice with rAAV2/8-hAGA resulted in the clearance of accumulated Gb3 in tissues such as liver, spleen, kidney, heart, and brain with concomitant elevation of α-Gal A enzyme activity. Enzyme activity was elevated for up to 60 weeks. In addition, expression of the α-Gal A protein was identified in the presence of rAAV2/8-hAGA at 6, 12, and 24 weeks after treatment. α-Gal A activity was significantly higher in the mice treated with rAAV2/8-hAGA than in Fabry mice that received ERT. Along with higher α-Gal A activity in the kidney of the Fabry mice treated with gene therapy, immunohistochemical studies showed more α-Gal A expression in the proximal tubules and glomerulus, and less Gb3 deposition in Fabry mice treated with this gene therapy than in mice given ERT. The α-gal A gene transfer significantly reduced the accumulation of Gb3 in the tubules and podocytes of the kidney. Electron microscopic analysis of the kidneys of Fabry mice also showed that gene therapy was more effective than ERT. Conclusions The rAAV2/8-hAGA mediated α-Gal A gene

  9. Vascular Tortuosities of the Upper Eyelid: A New Clinical Finding in Fabry Patient Screening

    Directory of Open Access Journals (Sweden)

    Langis Michaud

    2013-01-01

    Full Text Available Purpose. To report a new clinical finding related to Fabry disease. Methods. Fabry subjects were enrolled in the study, matched for age and sex with healthy individuals as a control group. This is a prospective review of all upper lid pictures taken for every subject at their last visit. A 4-step grading scale is proposed to classify this new entity. Results. Group A (Fabry comprised 16 males and 22 females, aged 40 (±14 years on average. Group B (control comprised 7 males and 8 females, aged 37 (±12 Vessels tortuosity was identified on the external superior lid in 36 of the Fabry patients (94.7%, while none of the subjects in group B showed similar vessels tortuosity. In addition, microaneurysms (MAs were found in 10/38 group A subjects while none in group B presented a similar finding. The differences are highly significant. Conclusion. This paper proposes that blood vessels tortuosity on the upper eyelid be recognized as a new clinical entity for inclusion among the classic ocular manifestations of Fabry’s disease. Without evidence of any negative impact, it should be considered a benign sign contributing to evidence of suspected Fabry disease.

  10. 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%, p<0.0001]. Effect differences favored agalsidase beta compared to untreated patients; b) for cardiovascular complications, agalsidase alfa 28% [95% CI 0.07, 0.55; I2 = 96.7%, p<0.0001]; agalsidase beta 7% [95% CI 0.05, 0.08; I2 = not applicable]; and untreated patients 26.2% [95% CI 0.149, 0.394; I2 = 98.8%, p<0.0001]. Effect differences favored agalsidase beta compared to untreated patients; and c) for cerebrovascular complications, agalsidase alfa 11.1% [95% CI 0.058, 0.179; I2 = 70.5%, p = 0.0024]; agalsidase beta 3.5% [95% CI 0.024, 0.046; I2 = 0%, p = 0.4209]; and untreated patients 18.3% [95% CI 0.129, 0.245; I2 = 95% p < 0.0001]. Effect differences favored agalsidase beta

  11. 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.

  12. Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease.

    Science.gov (United States)

    Pereira, Ester M; do Monte, Semiramis J H; do Nascimento, Fernando F; de Castro, Jose A F; Sousa, Jackeline L M; Filho, Henrique C S A L C; da Silva, Raimundo N; Labilloy, Anatália; Monte Neto, José T; da Silva, Adalberto S

    2014-02-15

    This study investigated the potential relationship between the expression levels of lysosome-associated membrane proteins (LAMP) 1 and 2 and responses to enzyme replacement therapy (ERT) in the members of a single family with Fabry disease (FD). LAMP levels were assessed by flow cytometry in leukocytes from 17 FD patients who received an eight-month course of ERT course and 101 healthy individuals. We found that phagocytic cells from the FD patients had higher expression levels of both LAMP-1 and LAMP-2, relative to the levels in phagocytes from the healthy controls (p=0.001). Furthermore, the LAMP-1 and LAMP-2 levels in phagocytes from the FD carriers continuously decreased with ERT administration to reach levels similar to those in healthy controls. We suggest that LAMP-1 and LAMP-2 could be used as additional markers with which to assess ERT effectiveness in FD.

  13. Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

    NARCIS (Netherlands)

    B.E. Smid; S.M. Rombach; J.M.F.G. Aerts; S. Kuiper; M. Mirzaian; H.S. Overkleeft; B.J.H.M. Poorthuis; C.E.M. Hollak; J.E.M. Groener; G.E. Linthorst

    2011-01-01

    ABSTRACT: BACKGROUND: Enzyme replacement therapy is currently the only approved therapy for Fabry disease. From June 2009 on, viral contamination of Genzyme's production facility resulted in a worldwide shortage of agalsidase beta leading to involuntary dose reductions (approved dose 1 mg/kg/eow, re

  14. First results from SAM-FP: Fabry-Perot observations with ground-layer adaptive optics - the structure and kinematics of the core of 30 Doradus

    Science.gov (United States)

    Mendes de Oliveira, C.; Amram, P.; Quint, Bruno C.; Torres-Flores, S.; Barbá, R.; Andrade, D.

    2017-08-01

    The aim of this paper is to present the first data set obtained with SOAR Adaptive Module-Fabry-Parot (SAM-FP), a Fabry-Perot instrument mounted inside the SOAR telescope Adaptive-Optics Module. This is the only existing imaging Fabry-Perot interferometer using laser-assisted ground-layer adaptive optics. SAM-FP was used to observe the ionized gas, traced by Hα, in the centre of the 30 Doradus starburst (the Tarantula Nebula) in the Large Magellanic Cloud, with high spatial (∼0.6 arcsec, or 0.15 pc) and spectral (R ≃ 11 200) resolution. Radial velocity, velocity dispersion and monochromatic maps were derived. The region displays a mix of narrow, σ ∼ 20 km s-1 profiles and multiple broader profiles with σ ∼ 70-80 km s-1, indicating the complex nature of the nebula kinematics. A comparison with previously obtained VLT/FLAMES spectroscopy demonstrates that the data agree well in the regions of overlap, but the Fabry-Perot data are superior in spatial coverage. A preliminary analysis of the observations finds a new expanding bubble south of R136, with a projected radius of r = 5.6 pc and an expansion velocity of 29 ± 4 km s-1. In addition, the first-time detailed kinematic maps derived here for several complexes and filaments of 30 Doradus allow identification of kinematically independent structures. These data exemplify the power of the combination of a high-order Fabry-Perot with a wide-field imager (3 × 3 arcmin2 GLAO-corrected field of view) for high-resolution spatial and spectral studies. In particular, SAM-FP data cubes are highly advantageous over multifibre or long-slit data sets for nebula structure studies and to search for small-scale bubbles, given their greatly improved spatial coverage. For reference, this paper also presents two appendices with detailed descriptions of the usage of Fabry-Perot devices, including formulae and explanations for understanding Fabry-Perot observations.

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

    Science.gov (United States)

    Goláň, Lubor; Goker-Alpan, Ozlem; Holida, Myrl; Kantola, Ikka; Klopotowski, Mariusz; Kuusisto, Johanna; Linhart, Aleš; Musial, Jacek; Nicholls, Kathleen; Gonzalez-Rodriguez, Derlis; Sharma, Reena; Vujkovac, Bojan; Chang, Peter; Wijatyk, Anna

    2015-01-01

    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 York Heart Association classification), renal (Modification of Diet in Renal Disease, estimated glomerular filtration rate), and biomarker (plasma globotriaosylceramide) assessments. Safety endpoints were adverse events and anti–agalsidase alfa antibodies. Results Twenty patients were randomized to 0.2 mg/kg EOW (mean age, 50.3 years; 70% male), 19 to 0.2 mg/kg weekly (51.8 years; 53% male), and 5 to 0.4 mg/kg weekly (49.4 years; 40% male). The mean change in left ventricular mass indexed to height by Week 53 in the 0.2-mg/kg EOW and weekly groups was 3.2 g/m2.7 and 0.5 g/m2.7, with no significant difference between groups. No clinically meaningful changes by Week 53 were found within or between the 0.2-mg/kg groups for peak oxygen consumption, 6-minute walk test, or Minnesota Living with Heart Failure Questionnaire. Two patients in each group improved by ≥1 New York Heart Association classification. No significant differences were found between 0.2 mg/kg EOW and weekly for mean change in estimated glomerular filtration rate (−1.21 mL/min/1.73 m2 vs −3.32 mL/min/1.73 m2) or plasma globotriaosylceramide (−1.05 nmol/mL vs −2.13 nmol/mL), respectively. Infusion-related adverse events were experienced by 25% and 21% in the

  16. Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis.

    Science.gov (United States)

    Wataya-Kaneda, Mari

    2016-01-01

    Sweating is regulated by various neurohormonal mechanisms. A disorder in any part of the sweating regulatory pathways, such as the thermal center, neurotransmitters in the central to peripheral nerve, innervation of periglandular neurotransmission, and sweat secretion in the sweat gland itself, induces dyshidrosis. Therefore, hereditary disorders with dyshidrosis result from a variety of causes. These diseases have characteristic symptoms derived from each pathogenesis besides dyshidrosis. The information in this chapter is useful for the differential diagnosis of representative genetic disorders with dyshidrosis. © 2016 S. Karger AG, Basel.

  17. Fabry-Perot interferometers

    CERN Document Server

    Mora-Hernandez, G

    1988-01-01

    This book describes the Fabry-Perot interferometer and its variants as well as its use, optimisation and applications. The author begins with an historical perspective on the development of the instrument. Because of the quantitative uses of the device, the text tends to be mostly mathematical in its treatment. However, there is also much practical detail on the use and optimization of the Fabry-Perot interferometer and discussion of its classical uses (such as in metrology) and its contemporary applications (such as in lasers). In addition the book contains a comprehensive bibliography summarizing the extensive literature on the subject. This book will appeal both to high-resolution practitioners, such as spectroscopists, and to the laser community, since the Fabrv-Perot is not only an integral part of the laser but is also usea to characterize its optical and spectroscopic behaviour.

  18. 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.)

  19. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

    Science.gov (United States)

    Ferreira, Susana; Ortiz, Alberto; Germain, Dominique P.; Viana-Baptista, Miguel; Gomes, António Caldeira; Camprecios, Marta; Fenollar-Cortés, Maria; Gallegos-Villalobos, Ángel; Garcia, Diego; García-Robles, José Antonio; Egido, Jesús; Gutiérrez-Rivas, Eduardo; Herrero, José Antonio; Mas, Sebastián; Oancea, Raluca; Péres, Paloma; Salazar-Martín, Luis Manuel; Solera-Garcia, Jesús; Alves, Helena; Garman, Scott C.; Oliveira, João Paulo

    2015-01-01

    Summary Lysosomal α-galactosidase A (α-Gal) is the enzyme deficient in Fabry disease (FD), an X-linked glycosphingolipidosis caused by pathogenic mutations affecting the GLA gene. The early-onset, multi-systemic FD classical phenotype is associated with absent or severe enzyme deficiency, as measured by in vitro assays, but patients with higher levels of residual α-Gal activity may have later-onset, more organ-restricted clinical presentations. A change in the codon 118 of the wild-type α-Gal sequence, replacing basic arginine by a potentially sulfhydryl-binding cysteine residue – GLA p.(Arg118Cys) –, has been recurrently described in large FD screening studies of high-risk patients. Although the Cys118 allele is associated with high residual α-Gal activity in vitro, it has been classified as a pathogenic mutation, mainly on the basis of theoretical arguments about the chemistry of the cysteine residue. However its pathogenicity has never been convincingly demonstrated by pathology criteria. We reviewed the clinical, biochemical and histopathology data obtained from 22 individuals of Portuguese and Spanish ancestry carrying the Cys118 allele, including 3 homozygous females. Cases were identified either on the differential diagnosis of possible FD manifestations and on case-finding studies (n=11; 4 males), or on unbiased cascade screening of probands’ close relatives (n=11; 3 males). Overall, those data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with FD clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease, since the allelic frequency in stroke patients was 0.0087 (p=0.0185 vs the general population). The Cys118 allelic frequency in healthy Portuguese adults (n=696) has been estimated as 0.001, therefore not qualifying for “rare” condition. PMID:25468652

  20. 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.)

  1. 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

  2. Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation.

    Science.gov (United States)

    Sadick, Victoria J; Fietz, Michael J; Tchan, Michel C; Kovoor, Pramesh; Thomas, Liza; Sadick, Norman

    2014-12-01

    A 52 year-old male with Klinefelter syndrome presented with chest tightness and rapid atrial fibrillation with hypotension. His echocardiogram demonstrated symmetrical left ventricular hypertrophy with minimal diastolic dysfunction. Subsequent investigations confirmed the diagnosis of Fabry cardiomyopathy. This is the first reported case of Klinefelter syndrome with homozygous sex-linked recessive mutation presenting primarily with cardiac manifestation.

  3. Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients

    Science.gov (United States)

    Gonçalves, Maria J.; Mourão, Ana F.; Martinho, António; Simões, Olívia; Melo-Gomes, José; Salgado, Manuel; Estanqueiro, Paula; Ribeiro, Célia; Brito, Iva; Fonseca, João E.; Canhão, Helena

    2017-01-01

    Fabry’s disease (FD) is a lysosomal storage disorder associated with an alpha-galactosidase A deficiency. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients with established diagnosis is unknown, but as musculoskeletal pain may be an important complaint at presentation, misdiagnosed cases are anticipated. With this study, we aim to calculate the frequency of FD-associated mutations in a cohort of JIA patients. Children with JIA from a national cohort were selected. Clinical and laboratorial information was recorded in the Portuguese rheumatic diseases register (http://Reuma.pt). Molecular genetic testing to detect GLA gene mutations was performed. After the multiplex polymerase chain reactions technique for DNA amplification, direct sequencing of the complete sequence of GLA gene was completed. From a cohort of 292 patients with JIA (188 females, 104 males), mutations were identified in 5 patients (all female). Four patients had the mutation D313Y, a rare GLA variant, which is associated with low enzymatic levels in plasma, but normal lysosomal levels. One patient presented the missense mutation R118C, which was previously described in Mediterranean patients with FD. This is the first screening of FD mutations in a cohort of JIA patients. No “classic” pathogenic FD mutations were reported. The late-onset FD-associated mutation, R118C, was found in a frequency of 0.34% (1/292). PMID:28299312

  4. Holographic Fabry-Perot spectrometer.

    Science.gov (United States)

    Martínez-Matos, O; Rodrigo, José A; Vaveliuk, P; Calvo, M L

    2011-02-15

    We propose a spectrum analyzer based on the properties of a hologram recorded with the field transmitted by a Fabry-Perot etalon. The spectral response of this holographic Fabry-Perot spectrometer (HFPS) is analytically investigated in the paraxial approximation and compared with a conventional Fabry-Perot etalon of similar characteristics. We demonstrate that the resolving power is twice increased and the free spectral range (FSR) is reduced to one-half. The proposed spectrometer could improve the operational performance of the etalon because it can exhibit high efficiency and it would be insensible to environmental conditions such as temperature and vibrations. Our analysis also extends to another variant of the HFPS based on holographic multiplexing of the transmitted field of a Fabry-Perot etalon. This device increases the FSR, keeping the same HFPS performance.

  5. Clinical and magnetic resonance imaging studies of Anderson-Fabry disease: 2 cases report%表现为早发缺血性卒中的Fabry病二例

    Institute of Scientific and Technical Information of China (English)

    李小璇; 王璐; 张赟; 张巍; 洪道俊; 王朝霞; 高惠珍; 袁云

    2011-01-01

    Objective To report 2 cases of Fabry disease with early-onset ischemic stroke and investigate the clinical and image features. Methods The 2 patients developed dizziness, diplopia and progressive memory decline at 32 and 25 years of age respectively. The α-galactosidase A (GLA)activity was 4. 3 U in case 1 and 1. 0 U in case 2 ( normal range 100-500 U). Skin biopsy showed numerous membrane bounded osmiophilic laminar material in vascular smooth muscle cells and endothelial cells. GLA gene analysis revealed GLA exon 7 1033-1034 TC del in case 1 and GLA exon 3 466G > A in case 2. The 2 patients were evaluated by Mainz severity score index (MSSI) and cranial MRI. Results The general MSSI was 32 in case 1 and 16 in case 2, with the highest score of neurological score ( 11 and 14). Both cases showed multifocal infarcts in bilateral cerebellum, occipital lobe, basal ganglia, which were hypointensity on T1 WI and hyperintensity on T2WI. There were hyperintensity changes in the pulvinar and basal ganglia on T1 WI in case 2. Conclusions Cerebral ischemic stroke could appear as initial symptoms in Fabry disease,which predominantly involved the posterior circulation. There might be no dilation of basal-vertebral artery.%目的 报道以早发缺血性卒中为主要表现的2例Fabry病,分析其卒中表现规律和影像学改变特点.方法 2例Fabry病患者分别在32岁和25岁出现头晕和突发视物成双,伴随记忆力下降.α-半乳糖苷酶活性在例1为4.3 U,例2为1.0 U(正常值100~500 U).皮肤病理检查发现血管平滑肌细胞和内皮细胞内充满膜性包裹的板层样小体.α-半乳糖苷酶基因检查显示例1的7号外显子存在1033-1034 TC del突变,而例2存在3号外显子c.466G>A突变.对2例患者进行美茵滋严重度评分(MSSI)和头MRI检查.结果 例1的MSSI总分为32,其中神经系统评分最高(11分),例2的总分为16,其中神经系统评分最高(14分).MRI均表现为双侧小脑、枕叶、基

  6. Presymptomatic diagnosis of Fabry's disease

    DEFF Research Database (Denmark)

    Hasselbalch, Rasmus Bo; Madsen, Per Lav; 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...

  7. 以慢性肾炎综合征为主要表现的Fabry病2例报道并文献复习%Fabry disease with chronic nephritis syndrome as the main manifestation and literature study:2 cases report

    Institute of Scientific and Technical Information of China (English)

    廖武琼; 李典耕; 谢大洋; 陈仆; 李清刚; 陈香美

    2015-01-01

    Objective To investigate the clinical manifestation and renal pathology of Fabry disease which characteri zed with chronic nephritis syndrome as the main manifestation. Methods Retrospectively review the 2 cases of Fabry disease, which characterized as chronic nephritis syndrome as the main manifestation, the clinical signs and pathology were analyzed, and review of the relevant literature to master the methods of diagnosis and treatment. Results One case was male patient, the other was female patient, and onset age was 46 years old and 44 years old, 2 cases showed proteinuria, hematuria, hyperten-sion, and no characteristic of extra-renal manifestations. Under the light microscope, glomerular sclerosis rates were 30. 8%and 32. 1% respectively, significant swelling of glomerular podocytes, visible vacuoles formed in the cytoplasm, renal tubular multifocal atrophic were found. Dense and irregular osmiophilic myelin bodies also can be found. There is no effective cure methods for Fabry disease, combined with renal damage, the treatment mainly was to protect the kidney function, reducing protein, control symptom, the main medicine are ARB, such as losartan potassium, leflunomide. Conclusion Fabry disease is a rare genetic chromosome X diseases, renal damage is one of the most common clinical manifestation, under microscopic osmiophilic myelin bodies is the pathological finding, symptomatic treatment with enzyme replacement therapy are the main treatment, and combined with the genetics of appropriate intervention to block the genetics of the disease.%目的:探讨以慢性肾炎综合征为主要表现的Fabry病临床表现和肾脏病理学特点。方法回顾性分析收治的以慢性肾炎综合征为主要表现的Fabry病2例,分析其临床体征及病理学特征,同时复习相关文献掌握其诊断及治疗方法。结果男女患者各1例,发病年龄分别为46岁和44岁,2例均表现为蛋白尿、血尿、高血压,而无特征性的肾外表现

  8. 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

    with the ESS is also able to inhibit inclusion of an unrelated pseudoexon in the FGB gene, and that also in the FGB context inactivation of the ESS by the c.639+919 G>A mutation causes pseudoexon activation, underscoring the universal nature of the ESS. Finally, we demonstrate that splice switching......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...... pseudoexon sequence from intron 4, which is responsible for the cardiac variant phenotype. In this study we investigate the splicing regulatory mechanism leading to GLA pseudoexon activation. Splicing analysis of GLA minigenes revealed that pseudoexon activation is influenced by cell-type. We demonstrate...

  9. Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation

    Science.gov (United States)

    Huang, Wei-Lin; Chou, Shih-Jie; Chang, Wei-Chao; Chang, Yuh-Lih; Leu, Hsin-Bang; Chen, Kuan-Hsuan; Wang, Kang-Ling; Lai, Ying-Hsiu; Liu, Yung-Yang; Lu, Kai-Hsi; Li, Hsin-Yang; Sung, Yen-Jen; Jong, Yuh-Jyh; Chen, Yann-Jang; Chen, Chung-Hsuan; Yu, Wen-Chung

    2016-01-01

    Rationale A high incidence of GLA IVS4+919 G>A mutation in patients with Fabry disease of the later-onset cardiac phenotype, has been reported in Taiwan. However, suitable biomarkers or potential therapeutic surrogates for Fabry cardiomyopathy (FC) in such patients under enzyme replacement treatment (ERT) remain unknown. Objective Using FC patients carrying IVS4+919 G>A mutation, we constructed an induced pluripotent stem cell (iPSC)-based disease model to investigate the pathogenetic biomarkers and potential therapeutic targets in ERT-treated FC. Results and methods The iPSC-differentiated cardiomyocytes derived from FC-patients (FC-iPSC-CMs) carried IVS4+919 G>A mutation recapitulating FC characteristics, including low α-galactosidase A enzyme activity, cellular hypertrophy, and massive globotriaosylceramide accumulation. Microarray analysis revealed that interleukin-18 (IL-18), a pleiotropic cytokine involved in various myocardial diseases, was the most highly upregulated marker in FC-iPSC-CMs. Meanwhile, IL-18 levels were found to be significantly elevated in the culture media of FC-iPSC-CMs and patients’ sera. Notably, the serum IL-18 levels were highly paralleled with the progression of left ventricular hypertrophy in Fabry patients receiving ERT. Finally, using FC-iPSC-CMs as in vitro FC model, neutralization of IL-18 with specific antibodies combined with ERT synergistically reduced the secretion of IL-18 and the progression of cardiomyocyte hypertrophy in FC-iPSC-CMs. Conclusion Our data demonstrated that cardiac IL-18 and circulating IL-18 are involved in the pathogenesis of FC and LVH. IL-18 may be a novel marker for evaluating ERT efficacy, and targeting IL-18 might be a potential adjunctive therapy combined with ERT for the treatment of advanced cardiomyopathy in FC patients with IVS4+919 G>A mutation. PMID:27888626

  10. Influence of intensity loss in the cavity of a folded Fabry-Perot interferometer on interferometric signals.

    Science.gov (United States)

    Shyu, Lih-Horng; Chang, Chung-Ping; Wang, Yung-Cheng

    2011-06-01

    Fabry-Perot interferometer is often used for the micro-displacement, because of its common optical path structure being insensitive to the environmental disturbances. Recently, the folded Fabry-Perot interferometer has been investigated for displacement measurements in large ranges. The advantages of a folded Fabry-Perot interferometer are insensitive to the tilt angle and higher optical resolution. But the design of the optical cavity has become more and more complicated. For this reason, the intensity loss in the cavity will be an important parameter for the distribution of the interferometric intensity. To obtain a more accurate result of such interferometer utilized for displacement measurements, the intensity loss of the cavity in the fabricated folded Fabry-Perot interferometer and the modified equation of the folded Fabry-Perot interferometer will be described. According to the theoretical and experimental results, the presented model is available for the analysis of displacement measurements by a folded Fabry-Perot interferometer.

  11. Fabry-perot multilayers for enhancing the diffraction efficiency of ion-implanted gratings.

    Science.gov (United States)

    Escoubas, L; Flory, F O; Lemarchand, F; Drouard, E; Roux, L; Tisserand, S; Albrand, G

    2001-04-01

    Enhancement of the free-space diffraction efficiency of gratings made by titanium-ion implantation is demonstrated both theoretically and experimentally. Indeed, by insertion of a grating into a multilayer dielectric Fabry-Perot cavity, the diffraction efficiency can be increased to as much as 24 times that of a single grating. The sensitivity of the diffraction efficiency to the optogeometrical parameters of the grating or of the Fabry-Perot cavity is discussed. Moreover, a process for performance of a phase grating inside a Fabry-Perot cavity is described, and experimental results concerning efficiency measurements are compared with computed values for various grating periods.

  12. Rugged Low Temperature Actuators for Tunable Fabry Perot Optical Filters Project

    Data.gov (United States)

    National Aeronautics and Space Administration — During our Phase I SBIR research, we propose to integrate a novel low-temperature large-strain actuator technology into Fabry-Perot optical filters. The resulting...

  13. Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

    Directory of Open Access Journals (Sweden)

    Hollak Carla EM

    2011-10-01

    Full Text Available Abstract Background Enzyme replacement therapy is currently the only approved therapy for Fabry disease. From June 2009 on, viral contamination of Genzyme's production facility resulted in a worldwide shortage of agalsidase beta leading to involuntary dose reductions (approved dose 1 mg/kg/eow, reduced dose 0.5 mg/kg/m, or switch to agalsidase alpha (administered dose 0.2 mg/kg/eow. An assessment report from the European Medicines Agency (EMA raised serious concerns about an increase in adverse events at lower dosages of agalsidase beta. We determined the influence of the shortage on clinical event incidence and the most sensitive biochemical marker (lysoGb3 in Dutch Fabry patients. Methods The incidence of clinical events per person per year was calculated from start of agalsidase beta treatment until the shortage, and was compared to the incidence of clinical events during the shortage period. In addition, plasma lysoGb3, eGFR, quality of life (SF-36 and brief pain inventory (BPI questionnaires were analysed. Results All thirty-five Dutch Fabry patients using agalsidase beta (17 males were included. Mean clinical event incidence was unchanged: 0.15 events per person per year before versus 0.15 during the shortage (p = 0.68. In total 28 clinical events occurred in 14 patients during 4.6 treatment years, compared to 7 events in 6 patients during the 1.3 year shortage period. eGFR and BPI scores were not significantly altered. Two SF-36 subscales were significantly but minimally reduced in females. In males, lysoGb3 increased with a median of 8.1 nM (range 2.5 - 29.2 after 1 year of shortage (p = 0.001. Increases in lysoGb3 were found in both patients switching to agalsidase alpha and on a reduced agalsidase beta dose. Antibody status, treatment duration or clinical event incidence showed no clear correlation to lysoGb3 increases. Conclusions No increase in clinical event incidence was found in the adult Dutch Fabry cohort during the agalsidase

  14. Compact imaging spectrometer combining Fourier transform spectroscopy with a Fabry-Perot interferometer.

    Science.gov (United States)

    Pisani, Marco; Zucco, Massimo

    2009-05-11

    An imaging spectrometer based on a Fabry-Perot interferometer is presented. The Fabry-Perot interferometer scans the mirror distance up to contact and the intensity modulated light signal is transformed using a Fourier Transform based algorithm, as the Michelson based Fourier Transform Spectrometers does. The resulting instrument has the advantage of a compact, high numerical aperture, high luminosity hyperspectral imaging device. Theory of operation is described along with one experimental realization and preliminary results.

  15. Fabry-Perot resonance of water waves.

    Science.gov (United States)

    Couston, Louis-Alexandre; Guo, Qiuchen; Chamanzar, Maysamreza; Alam, Mohammad-Reza

    2015-10-01

    We show that significant water wave amplification is obtained in a water resonator consisting of two spatially separated patches of small-amplitude sinusoidal corrugations on an otherwise flat seabed. The corrugations reflect the incident waves according to the so-called Bragg reflection mechanism, and the distance between the two sets controls whether the trapped reflected waves experience constructive or destructive interference within the resonator. The resulting amplification or suppression is enhanced with increasing number of ripples and is most effective for specific resonator lengths and at the Bragg frequency, which is determined by the corrugation period. Our analysis draws on the analogous mechanism that occurs between two partially reflecting mirrors in optics, a phenomenon named after its discoverers Charles Fabry and Alfred Perot.

  16. Transforming Fabry-Perot resonances into a Tamm mode

    CERN Document Server

    Durach, Maxim

    2012-01-01

    We propose a novel photonic structure composed of metal nanolayer, Bragg mirror and metal nanolayer. The structure supports resonances that are transitional between Fabry-Perot and Tamm modes. When the dielectric contrast of the DBR is removed these modes are a pair of conventional Fabry-Perot resonances. They spectrally merge into a Tamm mode at high contrast. Such behavior differs from the results for structures supporting Tamm modes reported earlier. The optical properties of the structure in the frequency range of the DBR stop band, including highly beneficial 50% transmittivity through thick structures, are determined by the introduced in the paper hybrid resonances. The results can find a wide range of photonic applications.

  17. Single-SectionFabry-Perot Mode-Locked Semiconductor Lasers

    Directory of Open Access Journals (Sweden)

    Weiguo Yang

    2011-01-01

    Full Text Available We present a review of the theoretical models and experimental verification of the single-section Fabry-Perot mode-locked semiconductor lasers based on multiple-spatial-mode (MSM coupling. The mode-locked operation at the repetition rates of 40 GHz and higher and the pulse width of a few picoseconds are confirmed by the intensity autocorrelation, the fast photo detection and RF spectrum, and the optical spectral interference measurement of ultrafast pulse. The spatial mode coupling theory of single-section Fabry-Perot mode-locked semiconductor lasers is also reviewed, and the results are compared with the experimental observations. The small signal modulation response of these lasers, which exhibits high-frequency responses well beyond the relaxation oscillation resonance limit, is also modeled theoretically, and the simulation is verified by the experimental measurements.

  18. Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C

    Science.gov (United States)

    Oliván-Viguera, Aida; Lozano-Gerona, Javier; López de Frutos, Laura; Cebolla, Jorge J.; Irún, Pilar; Abarca-Lachen, Edgar; García-Malinis, Ana J.; García-Otín, Ángel Luis; Gilaberte, Yolanda; Giraldo, Pilar; Köhler, Ralf

    2017-01-01

    The calcium/calmodulin-gated KCa3.1 channel regulates normal and abnormal mitogenesis by controlling K+-efflux, cell volume, and membrane hyperpolarization-driven calcium-entry. Recent studies suggest modulation of KCa3.1 by omega-3 fatty acids as negative modulators and impaired KCa3.1 functions in the inherited lysosomal storage disorder (LSD), Fabry disease (FD). In the first part of present study, we characterize KCa3.1 in murine and human fibroblasts and test the impact of omega-3 fatty acids on fibroblast proliferation. In the second, we study whether KCa3.1 is altered in the LSDs, FD, and Niemann-Pick disease type C (NPC). Our patch-clamp and mRNA-expression studies on murine and human fibroblasts show functional expression of KCa3.1. KCa currents display the typical pharmacological fingerprint of KCa3.1: Ca2+-activation, potentiation by the positive-gating modulators, SKA-31 and SKA-121, and inhibition by TRAM-34, Senicapoc (ICA-17043), and the negative-gating modulator, 13b. Considering modulation by omega-3 fatty acids we found that α-linolenic acid (α-LA) and docosahexanenoic acid (DHA) inhibit KCa3.1 currents and strongly reduce fibroblast growth. The α-LA-rich linseed oil and γ-LA-rich borage oil at 0.5% produce channel inhibition while α-LA/γ-LA-low oils has no anti-proliferative effect. Concerning KCa3.1 in LSD, mRNA expression studies, and patch-clamp on primary fibroblasts from FD and NPC patients reveal lower KCa3.1-gene expression and membrane expression than in control fibroblasts. In conclusion, the omega-3 fatty acid, α-LA, and α-LA/γ-LA-rich plant oils, inhibit fibroblast KCa3.1 channels and mitogenesis. Reduced fibroblast KCa3.1 functions are a feature and possible biomarker of cell dysfunction in FD and NPC and supports the concept that biased lipid metabolism is capable of negatively modulating KCa3.1 expression. PMID:28197106

  19. Surveying quality of life in patients with Fabry disease by the SF-36 scale%SF-36量表评估Fabry病患者生活质量的研究

    Institute of Scientific and Technical Information of China (English)

    欧阳彦; 潘晓霞; 王朝晖; 沈平雁; 王伟铭; 任红; 张文; 陈楠

    2014-01-01

    Objective To test the availability of the SF-36 scale for the Chinese patient with Fabry disease (FD),the quality of life(QOL) and its probable influence factors were analyzed.Methods The data were obtained from 50 healthy volunteers and 57 patients with FD enrolled in nephrology department of Ruijin hospital from Jan,2003 to Jan,2013.The SF-36 scale was used to evaluate the QOL of patients and to compare the difference between the patients and controls.Furthermore,the influencing factors were estimated by multiple linear regressions.Results Between the patients and controls,the differences of 8 dimensionalitiy's scores had statistical significance,which claimed that the reaction was sensitive.Especially,in the patient group,the Pearson correlation coefficient among each domain of the SF-36 was lower than its Cronbach's α coefficient (0.934),which indicated good internal consistency reliability.The two common factors were much the same to the theory assume,which illustrated the construct validity was available.Even the acceptability of the patient' group at 100% proved the scale was appropriate for patients with FD.In addition,in rolephysical (RP) and bodily pain (BP),the scores of the male patients were less than the females (P <0.01),declared that the QOL of the males was inferior to the females.In the physical function (PF) and the mental health (MH),the scores of the patients with angiokeratoma were less than the group without it,so the patients who had evident clinical symptoms more likely contributed to depression.Using multiple linear regression,age,gender and clinical types were chosen into regression equation by stepwise regression,and the main potential predictor was age.Conclusions The SF-36 scale applies to evaluate the QOL of patients with FD.It is critical to concern and manage the QOL of FD patients,especially in their mental health aspect.%目的 调查中国Fabry病患者生存质量(quality of life,QOL),分析其可能的影响因

  20. Neurological aspects of Gaucher and Fabry disease

    NARCIS (Netherlands)

    Biegstraaten, M.

    2011-01-01

    Momenteel zijn er meer dan vijftig stapelingsziekten bekend, waarvan de ernst zeer uiteen loopt. Sommige aandoeningen worden gekenmerkt door ernstige mentale retardatie, neurologische problemen en overlijden op kinderleeftijd; andere vormen hebben nauwelijks een lagere levensverwachting. Ook in de l

  1. Preliminary results in surgery of Parkinson's disease.

    Science.gov (United States)

    Nasser, J A; Confort, C I; Ferraz, A; Bouza, A A

    1998-09-01

    The authors present the preliminary results of 20 patients selected to be operated on between January 1996 and April 1997. These patients presented one of the present indications for stereotactic posteroventral pallidotomy (PVP), such as: rigidity, akinesia/bradykinesia, gait dysfunction, drug induced dyskinesias and tremor. Every patient of this protocol was evaluated by: UPDRS score, Schwab and England scale, Hoehn and Yahr Staging Scale before and after surgery. The results in 3 months showed a remarkable improvement after PVP (P < 0.01) in all functional assessments, except for facial expression, speech and posture. The morbidity was 5%. 5 patients (25%) who were in Hoehn and Yahr 5 underwent a bilateral simultaneous PVP. In 5 patients (25%), who had tremor, during the PVP, VIM thalamotomy was added. These preliminary results, suggest that PVP is highly effective for PD symptoms.

  2. Period Doubling in a Fabry-Perot Laser Diode Subject to Optical Pulse Injection

    Institute of Scientific and Technical Information of China (English)

    ZHAO Yue-Peng; WANG Yun-Cai; ZHANG Ming-Jiang; AN Yi; WANG Ji-Long

    2007-01-01

    Experimental study and numerical simulations of the period doubling of injected optical pulses in Fabry-Perot laser diodes are presented. In our experiments, the period doubling is achieved within a wide input frequency range and the period doubling of the injected optical pulses with 6.32 GHz repetition rate is investigated in detail. The obtained experimental results indicate that period doubling occurs at an appropriate injected optical power level when the bias current of the Fabry-Perot laser diode is located in lower ranges. Moreover, the experimental observed features have been numerically demonstrated by using a coupled rate-equation model. Numerical simulations are consistent with the experimental results.

  3. Improved spectral characteristics of 980 nm broad area slotted Fabry-Perot diode lasers

    Institute of Scientific and Technical Information of China (English)

    Gao Zhuo; Wang Jun; Xiong Cong; Liu Yuanyuan; Liu Suping; Ma Xiaoyu

    2012-01-01

    A novel broad area slotted Fabry-Perot diode laser is designed and fabricated.Using a new semianalytical method,we introduce effective refractive index perturbations in the form of etched slot features into a conventional 980 nm broad area Fabry-Perot cavity,and the spectral characteristics of the device are expected to be noticeably improved.A low density of slot features is formed by using standard optical lithography and inductively coupled plasma dry etching.The experimental results show that the full spectral width at half-maximum is less than 0.4 nm,meanwhile,the thermal shift of the emission spectrum is decreased from 0.26 to 0.07 nm/℃ over a temperature range of 10 to 60 ℃.The improved spectral characteristics of the device are proved to be attributed to such slotted Fabry-Perot laser structures.

  4. Experimental measurement of photothermal effect in Fabry-Perot cavities

    CERN Document Server

    De Rosa, M L; Cerdonio, M; Pinard, M; Marin, F

    2002-01-01

    We report the experimental observation of the photothermal effect. The measurements are performed by modulating the laser power absorbed by the mirrors of two high-finesse Fabry-Perot cavities. The results are very well described by a recently proposed theoretical model [M. Cerdonio, L. Conti, A. Heidmann and M. Pinard, Phys. Rev. D 63 (2001) 082003], confirming the correctness of such calculations. Our observations and quantitative characterization of the photothermal effect demonstrate its critical importance for high sensitivity interferometric displacement measurements, as those necessary for gravitational wave detection.

  5. High-temperature fiber-optic Fabry-Perot interferometric sensors

    Energy Technology Data Exchange (ETDEWEB)

    Ding, Wenhui; Jiang, Yi; Gao, Ran, E-mail: bitjy@bit.edu.cn [School of Optoelectronics, Beijing Institute of Technology, Beijing 100081 (China); Liu, Yuewu [Key Laboratory for Mechanics in Fluid Solid Coupling Systems, Institute of Mechanics, Chinese Academy of Science, Beijing 100190 (China)

    2015-05-15

    A photonic crystal fiber (PCF) based high-temperature fiber-optic sensor is proposed and experimentally demonstrated. The sensor head is a Fabry-Perot cavity manufactured with a short section of endless single-mode photonic crystal fiber (ESM PCF). The interferometric spectrum of the Fabry-Perot interferometer is collected by a charge coupled device linear array based micro spectrometer. A high-resolution demodulation algorithm is used to interrogate the peak wavelengths. Experimental results show that the temperature range of 1200 °C and the temperature resolution of 1 °C are achieved.

  6. High-temperature fiber-optic Fabry-Perot interferometric sensors.

    Science.gov (United States)

    Ding, Wenhui; Jiang, Yi; Gao, Ran; Liu, Yuewu

    2015-05-01

    A photonic crystal fiber (PCF) based high-temperature fiber-optic sensor is proposed and experimentally demonstrated. The sensor head is a Fabry-Perot cavity manufactured with a short section of endless single-mode photonic crystal fiber (ESM PCF). The interferometric spectrum of the Fabry-Perot interferometer is collected by a charge coupled device linear array based micro spectrometer. A high-resolution demodulation algorithm is used to interrogate the peak wavelengths. Experimental results show that the temperature range of 1200 °C and the temperature resolution of 1 °C are achieved.

  7. Decreased vibrational susceptibility of Fabry-Perot cavities via designs of geometry and structural support

    Institute of Scientific and Technical Information of China (English)

    Yang Tao; Li Wen-Bo; Zang Er-Jun; Chen Li-Sheng

    2007-01-01

    Ultra-stable optical cavities are widely used for laser frequency stabilization. In these experiments the laser performance relies on the length stability of the Fabry-Perot cavities. Vibration-induced deformation is one of the dominant factors that affect the stability of ultra-stable optical cavities. We have quantitatively analysed the elastic deformation of Fabry-Perot cavities with various shapes and mounting configurations. Our numerical result facilitates a novel approach for the design of ultra-stable cavities that are insensitive to vibrational perturbations. This approach can be applied to many experiments such as laser frequency stabilization, high-precision laser spectroscopy, and optical frequency standards.

  8. 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.

  9. Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.

    Directory of Open Access Journals (Sweden)

    David G Warnock

    Full Text Available Migalastat HCl (AT1001, 1-Deoxygalactonojirimycin is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. The currently approved, biologics-based therapy for Fabry disease is enzyme replacement therapy (ERT with either agalsidase alfa (Replagal or agalsidase beta (Fabrazyme. Based on preclinical data, migalastat HCl in combination with agalsidase is expected to result in the pharmacokinetic (PK enhancement of agalsidase in plasma by increasing the systemic exposure of active agalsidase, thereby leading to increased cellular levels in disease-relevant tissues. This Phase 2a study design consisted of an open-label, fixed-treatment sequence that evaluated the effects of single oral doses of 150 mg or 450 mg migalastat HCl on the PK and tissue levels of intravenously infused agalsidase (0.2, 0.5, or 1.0 mg/kg in male Fabry patients. As expected, intravenous administration of agalsidase alone resulted in increased α-Gal A activity in plasma, skin, and peripheral blood mononuclear cells (PBMCs compared to baseline. Following co-administration of migalastat HCl and agalsidase, α-Gal A activity in plasma was further significantly increased 1.2- to 5.1-fold compared to agalsidase administration alone, in 22 of 23 patients (95.6%. Importantly, similar increases in skin and PBMC α-Gal A activity were seen following co-administration of migalastat HCl and agalsidase. The effects were not related to the administered migalastat HCl dose, as the 150 mg dose of migalastat HCl increased α-Gal A activity to the same extent as the 450 mg dose. Conversely, agalsidase had no effect on the plasma PK of migalastat. No migalastat HCl-related adverse events or drug-related tolerability issues were identified.ClinicalTrials.gov NCT01196871.

  10. Fourier Transform Fabry-Perot Interferometer

    Science.gov (United States)

    Snell, Hilary E.; Hays, Paul B.

    1992-01-01

    We are developing a compact, rugged, high-resolution remote sensing instrument with wide spectral scanning capabilities. This relatively new type of instrument, which we have chosen to call the Fourier-Transform Fabry-Perot Interferometer (FT-FPI), is accomplished by mechanically scanning the etalon plates of a Fabry-Perot interferometer (FPI) through a large optical distance while examining the concomitant signal with a Fourier-transform analysis technique similar to that employed by the Michelson interferometer. The FT-FPI will be used initially as a ground-based instrument to study near-infrared atmospheric absorption lines of trace gases using the techniques of solar absorption spectroscopy. Future plans include modifications to allow for measurements of trace gases in the stratosphere using spectral lines at terahertz frequencies.

  11. 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.

  12. Transforming Fabry-Pérot resonances into a Tamm mode

    Science.gov (United States)

    Durach, Maxim; Rusina, Anastasia

    2012-12-01

    We propose an optical structure composed of two metal nanolayers enclosing a distributed Bragg reflector (DBR) mirror. The structure is an open photonic system whose bound modes are coupled to external radiation. We apply the special theoretical treatment based on inversion symmetry of the structure to classify its resonances. We show that the structure supports resonances transitional between Fabry-Pérot modes and Tamm plasmons. When the dielectric contrast of the DBR is removed these modes are a pair of conventional Fabry-Pérot resonances. They spectrally merge into a Tamm mode at high contrast. The optical properties of the structure in the frequency range of the DBR stop band, including highly beneficial 50% transmittivity through thick structures with sub-skin-depth metal films, are determined by the hybrid quasinormal modes of the open nonconservative structure under consideration. The results can find a broad range of applications in photonics and optoelectronics, including the possibility of coherent control over optical fields in the class of structures similar to the one proposed here.

  13. 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....... 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...

  14. A high resolution scanning fabry-perot for OSIRIS

    Directory of Open Access Journals (Sweden)

    A. Bernal

    2007-01-01

    Full Text Available Following the directives of the workshop on the interferometric mode of OSIRIS, the Mexican team has received support to ac- quire a scanning Fabry-Perot interferometer for OSIRIS. In this presentation we will try to define which Fabry-Perot will be selected as well as which filters need to be acquired. We will also discuss the acquisition software

  15. Immunohistochemical diagnosis of Fabry nephropathy and localisation of globotriaosylceramide deposits in paraffin-embedded kidney tissue sections.

    Science.gov (United States)

    Valbuena, Carmen; Leitão, Dina; Carneiro, Fátima; Oliveira, João Paulo

    2012-02-01

    Fabry disease (FD) is a rare X-linked lysosomal storage disorder of glycosphingolipids, mostly globotriaosylceramide (Gb3). Proteinuric chronic kidney disease develops frequently, and recognition of Fabry nephropathy on a kidney biopsy may be the first clue to the underlying diagnosis. Since the accumulated glycosphingolipids are largely extracted by the paraffin-embedding procedure, the most characteristic feature of Fabry nephropathy on routine light microscopy (LM) is nonspecific cell vacuolization. To test whether residual Gb3 in kidney tissue might be exploited for the specific diagnosis of Fabry nephropathy, paraffin-embedded kidney biopsies of nine FD patients (one boy, four men, four women) and of a female carrier of a mild genetic mutation, with no evidence of Fabry nephropathy, were immunostained with an anti-Gb3 antibody. The adult biopsies were additionally co-stained with a lysosomal marker (anti-lysosomal-associated membrane protein 2 (anti-LAMP2) antibody). The distribution of Gb3 deposits was scored per cell type and compared to the histological scorings of glycosphingolipid inclusions on semi-thin sections. FD patients had residual Gb3 in all types of glomerular, tubular, interstitial and vascular kidney cells. The highest expression of LAMP2 was seen in tubular cells, but there were no meaningful associations between LAMP2 expression and prevalence of Gb3 deposits on different kidney cell types. The histological scorings of glycosphingolipid inclusions were relatively higher than the corresponding immunohistochemical scorings of Gb3 deposits. In the mildly affected female, Gb3 expression was limited to tubular cells, a pattern similar to controls. Gb3 immunostaining allows the specific diagnosis of Fabry nephropathy even in kidney biopsies routinely processed for LM.

  16. Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

    Science.gov (United States)

    Bersano, Anna; Markus, Hugh Stephen; Quaglini, Silvana; Arbustini, Eloisa; Lanfranconi, Silvia; Micieli, Giuseppe; Boncoraglio, Giorgio B; Taroni, Franco; Gellera, Cinzia; Baratta, Silvia; Penco, Silvana; Mosca, Lorena; Grasso, Maurizia; Carrera, Paola; Ferrari, Maurizio; Cereda, Cristina; Grieco, Gaetano; Corti, Stefania; Ronchi, Dario; Bassi, Maria Teresa; Obici, Laura; Parati, Eugenio A; Pezzini, Alessando; De Lodovici, Maria Luisa; Verrengia, Elena P; Bono, Giorgio; Mazucchelli, Francesca; Zarcone, Davide; Calloni, Maria Vittoria; Perrone, Patrizia; Bordo, Bianca Maria; Colombo, Antonio; Padovani, Alessandro; Cavallini, Anna; Beretta, Simone; Ferrarese, Carlo; Motto, Cristina; Agostoni, Elio; Molini, Graziella; Sasanelli, Francesco; Corato, Manuel; Marcheselli, Simona; Sessa, Maria; Comi, Giancarlo; Checcarelli, Nicoletta; Guidotti, Mario; Uccellini, Davide; Capitani, Erminio; Tancredi, Lucia; Arnaboldi, Marco; Incorvaia, Barbara; Tadeo, Carlo Sebastiano; Fusi, Laura; Grampa, Giampiero; Merlini, Giampaolo; Trobia, Nadia; Comi, Giacomo Pietro; Braga, Massimiliano; Vitali, Paolo; Baron, Pierluigi; Grond-Ginsbach, Caspar; Candelise, Livia

    2016-07-01

    Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project. Patients were defined as probable when presenting with stroke or transient ischemic attack of unknown etiopathogenic causes, or in the presence of genetic analysis. In 209 patients (57.4±14.7 years), the application of the disease-specific algorithm identified 227 patients with possible monogenic disease. Genetic testing identified pathogenic mutations in 7% of these cases. Familial history of stroke was the only significant specific feature that distinguished mutated patients from nonmutated ones. The presence of cerebrovascular risk factors did not exclude a genetic disease. In patients prescreened using a clinical algorithm for monogenic disorders, we identified monogenic causes of events in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series. © 2016 American Heart Association, Inc.

  17. 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

    PURPOSE: Enzyme replacement therapy (ERT) was offered from year 2001 to patients with Fabry disease. The ophthalmic experience was analysed, as part of a general 10-year status. METHODS: A retrospective observational series comprising 39 patients (25 females, 14 males) closely followed by the end...

  18. An economic Fabry-Perot wavelength reference

    Science.gov (United States)

    Fżrész, Gábor; Glenday, Alex; Latham, Christian

    2014-07-01

    Precision radial velocity (PRV) measurements are key in studying exoplanets, and so are wavelength calibrators in PRV instruments. ThAr lamps offer an affordable but somewhat limited solution for the visible passband. Laser frequency combs are ideal calibrators, except the (still) narrow wavelength coverage and large price tag. White light Fabry-Perot (FP) calibrators offer frequency-comb like properties in a more affordable and less complicated package1. Using a commercial solid FP etalon and off-the shelf components we have constructed an economic FP calibrator suitable for observatories on a smaller budget.

  19. Optimisation of Surgical Results in de-Quervain’s Disease

    OpenAIRE

    B Jagannath Kamath; Harsh Vardhan; Nikil Jayasheelan; Ajith Mahale; Ashvini Kumar

    2014-01-01

    Background: De Quervain’s disease poses more problems with respect to management than the diagnosis. Surgery is resorted to when the conservative methods fail. There are known complications of the surgical intervention. Surgeon contemplating the surgery should be aware of these and make every attempt to optimize the results and avoid the above mentioned complication. Methods: Sixty symptomatic wrists in 57 individuals suffering from de Quervain’s disease who needed surgery were studied preope...

  20. Determination of refractive index dispersion using fiber-optic low-coherence Fabry-Perot interferometer: implementation and validation

    Science.gov (United States)

    Karpienko, Katarzyna; Wróbel, Maciej S.; Jędrzejewska-Szczerska, Małgorzata

    2014-07-01

    We present the implementation and validation of low-coherence Fabry-Perot interferometer for refractive index dispersion measurements of liquids. A measurement system has been created with the use of four superluminescent diodes with different optical parameters, a fiber-optic coupler and an optical spectrum analyzer. The Fabry-Perot interferometer cavity has been formed by the fiber-optic end and mirror surfaces mounted on a micromechanical stage. The positive result of the validation procedure has been determined through statistical analysis. All obtained results were 99.999% statistically significant and were characterized by a strong positive correlation (r>0.98). The accuracy of the measured result of implemented low-coherence Fabry-Perot interferometer sensor is from 83% to 94%, which proves that the sensor can be used in the measurement of refractive index dispersion of liquids.

  1. Fiber Fabry-Perot interferometer for curvature sensing

    Science.gov (United States)

    Monteiro, Catarina S.; Ferreira, Marta S.; Silva, Susana O.; Kobelke, Jens; Schuster, Kay; Bierlich, Jörg; Frazão, Orlando

    2016-07-01

    A curvature sensor based on an Fabry-Perot (FP) interferometer was proposed. A capillary silica tube was fusion spliced between two single mode fibers, producing an FP cavity. Two FP sensors with different cavity lengths were developed and subjected to curvature and temperature. The FP sensor with longer cavity showed three distinct operating regions for the curvature measurement. Namely, a linear response was shown for an intermediate curvature radius range, presenting a maximum sensitivity of 68.52 pm/m-1. When subjected to temperature, the sensing head produced a similar response for different curvature radii, with a sensitivity varying from 0.84 pm/°C to 0.89 pm/°C, which resulted in a small cross-sensitivity to temperature when the FP sensor was subjected to curvature. The FP cavity with shorter length presented low sensitivity to curvature.

  2. Fourier transform spectrometer based on Fabry-Perot interferometer.

    Science.gov (United States)

    Al-Saeed, Tarek A; Khalil, Diaa A

    2016-07-10

    We analyze the Fourier transform spectrometer based on a symmetric/asymmetric Fabry-Perot interferometer. In this spectrometer, the interferogram is obtained by recording the intensity as a function of the interferometer length. Then, we recover the spectrum by applying the discrete Fourier transform (DFT) directly on the interferogram. This technique results in spectral harmonic overlap and fictitious wavenumber components outside the original spectral range. For this purpose, in this work, we propose a second method to recover the spectrum. This method is based on expanding the DFT of the interferogram and the spectrum by a Haar or box function. By this second method, we recovered the spectrum and got rid of the fictitious spectral components and spectral harmonic overlap.

  3. Fiber Fabry-Perot interferometer for curvature sensing

    Science.gov (United States)

    Monteiro, Catarina S.; Ferreira, Marta S.; Silva, Susana O.; Kobelke, Jens; Schuster, Kay; Bierlich, Jörg; Frazão, Orlando

    2016-12-01

    A curvature sensor based on an Fabry-Perot (FP) interferometer was proposed. A capillary silica tube was fusion spliced between two single mode fibers, producing an FP cavity. Two FP sensors with different cavity lengths were developed and subjected to curvature and temperature. The FP sensor with longer cavity showed three distinct operating regions for the curvature measurement. Namely, a linear response was shown for an intermediate curvature radius range, presenting a maximum sensitivity of 68.52 pm/m-1. When subjected to temperature, the sensing head produced a similar response for different curvature radii, with a sensitivity varying from 0.84 pm/°C to 0.89 pm/°C, which resulted in a small cross-sensitivity to temperature when the FP sensor was subjected to curvature. The FP cavity with shorter length presented low sensitivity to curvature.

  4. 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.

  5. Dynamic model and stability analysis of a laser using a nonlinear Fabry-Perot etalon as a cavity mirror

    Energy Technology Data Exchange (ETDEWEB)

    Li, S.; Pons, R. (Autonoma de Barcelona (Spain). Dept. of Fisica); Zhang, Y. (Chongqing Inst. of Posts and Telecommunications, Sichuan (China). Telecommunications Engineering Dept.)

    1994-08-01

    In this paper, the authors study a laser using a nonlinear Fabry-Perot etalon as a cavity mirror. First, using the semiclassical laser theory and the differential equation for the lossy nonlinear Fabry-Perot etalon, they develop dynamic equations describing this system for single-mode operation. In this model, the frequency-pulling effect, a finite response time of the nonlinear medium, and a finite-cavity round-trip time of the Fabry-Perot etalon are included. Second, based on this model, they analyze the stability of this laser and give some numerical results. The results show that (1) this system can exist in the stable state and in the unstable state; (2) there are not only saddle-node bifurcations but also Hopf bifurcations; (3) the detuning parameter will effect the characteristics of the bistability and the number and distribution of Hopf bifurcation points.

  6. An arc tangent function demodulation method of fiber-optic Fabry-Perot high-temperature pressure sensor

    Science.gov (United States)

    Ren, Qianyu; Li, Junhong; Hong, Yingping; Jia, Pinggang; Xiong, Jijun

    2017-09-01

    A new demodulation algorithm of the fiber-optic Fabry-Perot cavity length based on the phase generated carrier (PGC) is proposed in this paper, which can be applied in the high-temperature pressure sensor. This new algorithm based on arc tangent function outputs two orthogonal signals by utilizing an optical system, which is designed based on the field-programmable gate array (FPGA) to overcome the range limit of the original PGC arc tangent function demodulation algorithm. The simulation and analysis are also carried on. According to the analysis of demodulation speed and precision, the simulation of different numbers of sampling points, and measurement results of the pressure sensor, the arc tangent function demodulation method has good demodulation results: 1 MHz processing speed of single data and less than 1% error showing practical feasibility in the fiber-optic Fabry-Perot cavity length demodulation of the Fabry-Perot high-temperature pressure sensor.

  7. Is periodontal disease a reason or result for premature birth?

    Directory of Open Access Journals (Sweden)

    Turgut Demir

    2012-01-01

    Full Text Available Introduction: It is a known fact that there is a connection between periodontal disease and certain systemic conditions. Even though there are some contradictory results in the conducted studies, periodontal disease has been accepted as a risk factor affecting the negative terminations of pregnancy in recent years (premature birth [PB], low birth weight. This consideration is associated with a positive correlation between two conditions in some studies. The Hypothesis: Although there is such a relationship between periodontal disease and PB, the linking mechanism has not been explained as presence of the relation cannot reveal the cause-effect relationship. It should be discussed whether or not this positive connection is caused by the fact that periodontal disease is an independent risk factor for PB, or the change (hormonal, inflammatory in the systemic condition in PB cases causes a risk for periodontal disease. Evaluation of the Hypothesis: The fact that in PB cases the changes in steroid hormone levels might increase the incidence and severity of periodontal disease as in pregnancy, or there could be a common risk factor that may cause both cases, has not been revealed yet and should be taken into consideration.

  8. 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.

  9. Gain-guided index-antiguided fiber with a Fabry-Perot layer for large mode area laser amplifiers.

    Science.gov (United States)

    Lai, Chih-Hsien; Chen, Hsuan-Yu; Du, Cheng-Han; Chiou, Yih-Peng

    2015-02-23

    We propose a modified gain-guided index-antiguided (GGIAG) fiber structure for large mode area laser amplifiers, in which a thin dielectric layer is placed between the low-index core and the high-index cladding. The introduced dielectric layer functions as a Fabry-Perot etalon. By letting the resonant wavelength of the Fabry-Perot layer coincide with the signal wavelength, the signal is gain-guided in the fiber core. Moreover, the pump is confined in the low-index core owing to the antiresonant reflection originated from the Fabry-Perot layer. Numerical results indicate that the leakage loss of the pump can be minified over two orders of magnitude in the proposed structure, and thus the end-pumping efficiency could be enhanced significantly.

  10. Correction of Thermal Deviations of Fabry-Perot Resonator Based Measurements of Specific Gases in Millimeter Wave Bands

    Directory of Open Access Journals (Sweden)

    J. Libich

    2012-04-01

    Full Text Available Due to the thermal expansivity of the material used in the Fabry-Perot resonator mirrors, the resonator cavity length can change and this might therefore have an impact on the resonant frequency during high-resolution spectroscopy measurements. Based on measurements and simulations, this paper discusses the influences of temperature on the precise determination of gas attenuation measured in a Fabry-Perot resonator. Several measures to mitigate such influence and to correct the measured results were tested. A correction method for the measured data was proposed.

  11. External Electro-optic Sampling Utilizing an Asymmetric Fabry-Pérot Film of Poled Electro-optical Polymer

    Institute of Scientific and Technical Information of China (English)

    陈开鑫; 杨罕; 张大明; 张红波; 衣茂斌

    2001-01-01

    External electro-optic sampling has been first demonstrated using a poled electro-optical polymer asymmetricFabry-Pérot film, placed freely on the indium-tin oxide coplanar waveguide transmission line and used as anelectro-optic probe tip. Only one laser beam is required due to the fact that the asymmetric Fabry-Pérot film isutilized to convert the phase modulation to amplitude modulation. A 1.2 GHz microwave signal is sampled, andthe voltage sensitivity of about 2 m V/Hz is obtained. The results are promising for technical applications inhigh-speed electronic devices and monolithic microwave integrated circuits research.

  12. Line-imaging Fabry-Perot interferometer

    Energy Technology Data Exchange (ETDEWEB)

    Mathews, A.R.; Warnes, R.H.; Hemsing, W.F.; Whittemore, G.R.

    1990-01-01

    A method for measuring the velocity history of a line element on a shock-loaded solid has been demonstrated. Light from single-frequency laser is focused through a cylindrical lens to a line on a moving target. The return Doppler-shifted image is passed through a Fabry-Perot interferometer. Because only specific combinations of incident light angle and frequency can pass through the interferometer the output is an incomplete image of the moving target appearing as a set of fringes. This image is focused onto an electronic streak camera and swept in time. The fringe pattern changes with time as the target surface moves, allowing determination of velocity for each point on the target that forms a fringe. Because the velocity can only be measured at the fringe positions, it is necessary to use an interpolating polynomial to obtain a continuous function of time and velocity along the sampled lien. 9 refs., 7 figs.

  13. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

    Science.gov (United States)

    Posey, Jennifer E; Harel, Tamar; Liu, Pengfei; Rosenfeld, Jill A; James, Regis A; Coban Akdemir, Zeynep H; Walkiewicz, Magdalena; Bi, Weimin; Xiao, Rui; Ding, Yan; Xia, Fan; Beaudet, Arthur L; Muzny, Donna M; Gibbs, Richard A; Boerwinkle, Eric; Eng, Christine M; Sutton, V Reid; Shaw, Chad A; Plon, Sharon E; Yang, Yaping; Lupski, James R

    2017-01-05

    Whole-exome sequencing can provide insight into the relationship between observed clinical phenotypes and underlying genotypes. We conducted a retrospective analysis of data from a series of 7374 consecutive unrelated patients who had been referred to a clinical diagnostic laboratory for whole-exome sequencing; our goal was to determine the frequency and clinical characteristics of patients for whom more than one molecular diagnosis was reported. The phenotypic similarity between molecularly diagnosed pairs of diseases was calculated with the use of terms from the Human Phenotype Ontology. A molecular diagnosis was rendered for 2076 of 7374 patients (28.2%); among these patients, 101 (4.9%) had diagnoses that involved two or more disease loci. We also analyzed parental samples, when available, and found that de novo variants accounted for 67.8% (61 of 90) of pathogenic variants in autosomal dominant disease genes and 51.7% (15 of 29) of pathogenic variants in X-linked disease genes; both variants were de novo in 44.7% (17 of 38) of patients with two monoallelic variants. Causal copy-number variants were found in 12 patients (11.9%) with multiple diagnoses. Phenotypic similarity scores were significantly lower among patients in whom the phenotype resulted from two distinct mendelian disorders that affected different organ systems (50 patients) than among patients with disorders that had overlapping phenotypic features (30 patients) (median score, 0.21 vs. 0.36; P=1.77×10(-7)). In our study, we found multiple molecular diagnoses in 4.9% of cases in which whole-exome sequencing was informative. Our results show that structured clinical ontologies can be used to determine the degree of overlap between two mendelian diseases in the same patient; the diseases can be distinct or overlapping. Distinct disease phenotypes affect different organ systems, whereas overlapping disease phenotypes are more likely to be caused by two genes encoding proteins that interact within

  14. The many facets of the Fabry-Perot

    CERN Document Server

    Sanchez-Soto, Luis L; Leuchs, Gerd

    2016-01-01

    We address the response, both in amplitude and intensity, of a Fabry-Perot from a variety of viewpoints. These complementary pictures conspire to achieve a comprehensive and consistent theory of the operation of this system.

  15. Chronic laryngitis as a result of gastro esophageal reflux disease

    Directory of Open Access Journals (Sweden)

    Trajković Rada

    2014-01-01

    Full Text Available Reflux of gastric contents to the level of the pharynx and larynx is called laryngopharyngeal reflux, which can exist as such or laryngeal and pharyngeal reflux as separate entities, and in such form may lead to other diseases such as rhinitis, sinusitis, otitis media, and precancerous cancerous condition. To determine the relationship and impact of gastroesophageal reflux disease on the occurrence, frequency and duration of inflammatory processes and mucosal damage to the larynx. All patients were obtained anamnesticly, lab test done in all patients, indirect hipofaringo and laryngoscopy was performed in all patients. Based on the feedback reports gastroenterologists, we obtained data of gastroscopy. Results: 120 subjects were processed with dyspeptic symptoms. Based on history, all patients had some symptoms of upper respiratory tract disease.62 (51.66% male respondents and 58 (48.33% females. The average age of 54 years. In 82 (68.33% patients was increased salivation (one of the leading symptoms, of that number in 61 (74.39% participants laryngitis was present. In 68 (56.66% cases where the predominant symptom was cough, laryngitis was present in 26 (38.23%. In 70 (58.33% of patients with globus sensation, laryngitis was present in 38 (54.28% patients. Smoking has been represented with 65.83% (70 respondents, the percentage of patients with chronic laryngitis in this group was 69.62% (55 respondents. Been held after gastroscopy and otorinolaryngological examination in 62 (51.66% patients were diagnosed gastroesophageal reflux disease (GERD, of which, in 43 (69.35% patients laryngitis was present. After a three-month follow-up of patients with therapy (H2 blockers, proton pump inhibitors and antacids 28 (65.11% subjects (total treated, showed an improvement. The results of this study indicate a significant correlation between gastroesophageal reflux disease and chronic laryngitis, as well as the favorable impact and effect of antacid therapy

  16. An analytical study on bistability of Fabry-Perot semiconductor optical amplifiers

    Science.gov (United States)

    Wang, Gang; Chen, Shuqiang; Yang, Huajun

    2016-09-01

    Optical bistabilities have been considered to be useful for sensor applications. As a typical nonlinear device, Fabry-Perot semiconductor optical amplifiers (FPSOAs) exhibit bistability under certain conditions. In this paper, the bistable characteristics in FPSOAs are investigated theoretically. Based on Adams's relationship between the incident optical intensity I in and the z-independent average intracavity intensity I av, an analytical expression of the bistable loop width in SOAs is derived. Numerical simulations confirm the accuracy of the analytical result.

  17. Coherent electron transparent tunneling through a single barrier within a Fabry-Perot cavity

    Science.gov (United States)

    Stolle, Jason; Baum, Chaz; Amann, Ryan; Haman, Ryan; Call, Tanner; Li, Wei

    2016-07-01

    Electromagnetic wave and quantum DeBroglie wave have many parallels between each other. We investigate the quantum mechanical counterpart of electromagnetic resonant tunneling through a non-absorbing metal layer. It is confirmed that an electron also has transparent transmission through a single barrier within a Fabry-Perot like cavity. This tunneling structure is actually a distortion of the Fabry-Perot echelon. We find that for a specific resonant electron energy, the cavity length is related to the electron's DeBroglie wavelength; and the single barrier can be located at a series positions with an interval equal to a half of the DeBroglie wavelength, not just at the center of the cavity. This tunneling phenomenon will have novel applications in quantum devices such as the resonant tunneling diode and scanning tunneling microscope. The results of this paper should also have impact on related electromagnetic research and application.

  18. Analyzing the temperature sensitivity of Fabry-Perot sensor using multilayer graphene diaphragm.

    Science.gov (United States)

    Li, Cheng; Liu, Qianwen; Peng, Xiaobin; Fan, Shangchun

    2015-10-19

    A miniature Fabry-Perot interferometric sensor with an ultra-high temperature sensitivity was constructed by using an approximate 8-layer graphene diaphragm. The extremely thin diaphragm was transferred onto the endface of a ferrule with an inner diameter of 125 μm, and van der Waals interactions between the graphene diaphragm and its substrate created a low finesse Fabry-Perot interferometer with a cavity length of 42.86 μm. Temperature testing demonstrated a temperature-induced cavity length change of 352 nm/°C with a good linearity in the range of 20-60 °C. The result conformed well to the proposed analytical models relating to thermal expansion of trapped gas, thermal-optical property of graphene diaphragm and deflection behavior of bulged graphene blister. However, the ultra-thin diaphragm exhibited a small deflection deformation characteristic due to the applied higher loads.

  19. Active vibration suppression in a suspended Fabry-Pérot cavity.

    Science.gov (United States)

    Canuto, Enrico

    2006-07-01

    This paper is concerned with active vibration suppression in a suspended Fabry-Pérot cavity, employed as the sensor in an innovative thrust-stand, called Nanobalance. The Nanobalance aims to exploit the sensitivity of in-vacuum Fabry-Pérot interferometers to sub-nanometric displacements in order to measure thrust (active and the passive) suspended to an athermic spacer. The thruster under test is mounted on the active pendulum and an equal dummy thruster is mounted on the passive one for balancing. The objective of the paper is to suppress the beat motion centered on the mean pendulum natural frequency (10-14 Hz depending on the thruster under test) without affecting the measurement bandwidth (2 Hz) where thrust has to be measured. Beat motion arises because of small pendulum imbalances excited by ground noise. Relevant digital control strategies and experimental results will be presented and discussed.

  20. Understanding the concept of resolving power in the Fabry-Perot interferometer using a digital simulation

    Energy Technology Data Exchange (ETDEWEB)

    Juvells, I [Departament de Fisica Aplicada i Optica, Universitat de Barcelona, Diagonal 647, 08028 Barcelona (Spain); Carnicer, A [Departament de Fisica Aplicada i Optica, Universitat de Barcelona, Diagonal 647, 08028 Barcelona (Spain); Ferre-Borrull, J [Departament d' Enginyeria Electronica, Universitat Rovira i Virgili, Electrica i Automatica. Av. Paisos Catalans 26, Campus Sescelades 43007 Tarragona (Spain); MartIn-Badosa, E [Departament de Fisica Aplicada i Optica, Universitat de Barcelona, Diagonal 647, 08028 Barcelona (Spain); Montes-Usategui, M [Departament de Fisica Aplicada i Optica, Universitat de Barcelona, Diagonal 647, 08028 Barcelona (Spain)

    2006-09-01

    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.

  1. A VO-compatible Information System for 3D Fabry-Perot Data

    Science.gov (United States)

    Surace, C.; Jegouzot, I.; Granet, Y.; Amram, P.; Balkowski, C.; Carignan, C.; Epinat, B.; Fenouilet, T.; Marcelin, M.

    2009-09-01

    In the astronomical world, Fabry-Perot (FP) data are very specific. Using a scanning Fabry-Perot, extended line emitting targets can be observed with a large field of view, within a short spectral range (from 5 to 100 Å) and with high resolutions (from 1,000 to 20,000). Observation data cubes allow us to derive and to focus mostly on emission line flux maps, velocity maps and velocity dispersion maps. Specific tools are needed to process and analyze FP data and make results available to the community. We present a VO-compliant Information System (http://fabryperot.oamp.fr/) platform dedicated to the 3D FP data. A multi-criteria interface based on SItools 4.0 is available and Cone Search, SIAP, (SIAP2) and Characterization are being implemented. A discussion of ``Added value Tools'' to be implemented has begun. These might include projection of galaxies at high redshift, Tully Fisher diagrams, etc.

  2. Diaphragm based long cavity Fabry-Perot fiber acoustic sensor using phase generated carrier

    Science.gov (United States)

    Liu, Bin; Lin, Jie; Liu, Huan; Ma, Yuan; Yan, Lei; Jin, Peng

    2017-01-01

    A diaphragm based long cavity Fabry-Perot interferometric fiber acoustic sensor is proposed. The Fabry-Perot cavity is formed by a flat fiber facet and an ultra-thin silver diaphragm with a 6-meter long fiber inserted in the cavity. A narrow-linewidth ring-cavity erbium-doped fiber laser is applied to demodulate the sensing signal in the phase generated carrier algorithm. Experimental results have demonstrated that the phase sensitivity is about -140 dB re 1 rad/μPa at 2 kHz. The noise equivalent acoustic signal level is 60.6 μPa/Hz1/2 and the dynamic range is 65.1 dB-SPL at 2 kHz. The sensor is suitable for sensing of weak acoustic signals.

  3. High Gain Slot Array with Fabry-Perot Cavity Feeding Circuit

    Directory of Open Access Journals (Sweden)

    Halim Boutayeb

    2016-01-01

    Full Text Available A new approach for designing slot arrays using a Fabry-Perot cavity for the feeding circuit is presented. The proposed array has simpler and smaller feeding circuit compared to conventional feeding networks that have multiple dividers or combiners. The dividers and combiners are usually sources of losses. In addition, the profile of the proposed array is not limited by the half-wavelength resonance condition that exists for Fabry-Perot resonator antennas based on partially reflecting surfaces. The operating frequency is not sensitive to the profile of the antenna. A small profile can be achieved without the utilization of an artificial magnetic conductor or a substrate with high dielectric constant. To validate the proposed approach, full-wave numerical results are presented at 5.8 GHz showing good impedance matching, a high gain of about 22 dB, and an efficiency of 76%.

  4. Involution of categorical thinking processes in Alzheimer's disease: Preliminary results

    Directory of Open Access Journals (Sweden)

    Claudia Berlim de Mello

    Full Text Available Abstract Alzheimer's disease (AD is a degenerative brain disorder characterized by progressive losses in cognitive functions, including memory. The sequence of these losses may correspond to the inverse order of the normal sequence of ontogenetic cognitive acquisitions, a process named retrogenesis. One of the acquisitions that improve in normal development is the ability to retrieve previously acquired categorical knowledge from semantic memory in order to guide associative thinking and memory processes; consequently, children become able to associate verbal stimuli in more complex taxonomic ways and to use this knowledge to improve their recall. Objective: In this study, we investigated if AD-related deterioration of semantic memory involves a decrease in categorical thinking processes with progression of the disease, according to the retrogenesis hypothesis. Methods: We compared the performance of AD patients at mild and moderate stages, and of groups of 7, 10 and 14-year-old children in tasks of free association along with recall tasks of perceptually and semantically related stimuli. Results: ANOVAS showed a decrease in taxonomic associations and an increase in diffuse associations between mild and moderate stages, corresponding to the inverse order shown by the child groups. At the moderate AD stage, the pattern was similar to that of 7-year-old children. Both groups of patients performed worse than child groups in recall tasks. Conclusions: These results corroborate the hypothesis of an involution of the processes of categorical associative thinking in the course of the disease.

  5. Long term results of radiotherapy of degenerative joint diseases

    Energy Technology Data Exchange (ETDEWEB)

    Lindner, H.; Freislederer, R.

    1982-04-01

    At the Radiologic Department of the Staedt. Krankenhaus Passau, 473 patients with degenerative diseases in the big joints and the spine were irradiated with the caesium unit between 1971 and 1979. Among these patients, 249 could be followed up during a prolonged period (1/2 to 9 years, i.e. 4.2 years on an average). According to the categories of v. Pannewitz, 11% were pain-free at this moment, 21% showed an essential improvement, 29% showed an improvement, and 39% were not influenced by the treatment. 13.5% showed recurrent pains; these were mentioned as 'not influenced' in the statistical analysis. It is proved that the relief of pain does not depend on the age of the patients, but on the anamnesis period, the results of the X-ray examiantion, and the degree of the restriction of mobility. Due to the delay of irradiation, a preliminary treatment mostly produces a less favorable radiotherapeutic result. Compared with other therapeutic methods, the long term results of radiotherapy of degenerative joint diseases are generally favorable. This conclusion is also confirmed by the results of patients checked up more than five years after the treatment.

  6. Polymer waveguide Fabry-Perot resonator for high-frequency ultrasound detection.

    Science.gov (United States)

    Tadayon, Mohammad Amin; Baylor, Martha-Elizabeth; Ashkenazi, Shai

    2014-12-01

    Piezoelectric technology is the backbone of most medical ultrasound imaging arrays; however, signal transduction efficiency severely deteriorates in scaling the technology to element size smaller than 0.1 mm, often required for high-frequency operation (>20 MHz). Optical sensing and generation of ultrasound has been proposed and studied as an alternative technology for implementing sub-millimeter size arrays with element size down to 10 μm. The application of thin polymer film Fabry-Perot resonators has been demonstrated for high-frequency ultrasound detection; however, their sensitivity is limited by light diffraction loss. Here, we introduce a new method to increase the sensitivity of an optical ultrasound receiver by utilizing a waveguide between the mirrors of the Fabry-Perot resonator. This approach eliminates diffraction loss from the cavity, and therefore the finesse is only limited by mirror loss and absorption. By applying this method, we have achieved noise equivalent pressure of 178 Pa over a bandwidth of 30 MHz or 0.03 Pa/Hz1/2, which is about 20-fold better than a similar device without a waveguide. The finesse of the tested Fabry-Perot resonator was around 200. This result is 5 times higher than the finesse measured in the same device outside the waveguide region.

  7. Comparison of radiological and pathological results in gestational trophoblastic diseases

    Directory of Open Access Journals (Sweden)

    Narges Izadi-Mood

    2013-09-01

    Full Text Available Background: Gestational trophoblastic disease (GTD is a heterogenous group of neoplastic lesions that is derived from placental trophoblastic epithelium. According to World Health Organization (WHO classification they include: Hydatidiform mole (complete and partial, invasive mole, choriocarcinoma and placental site trophoblastic tumor. Hydatidiform mole is the most common and the diagnosis is achieved by pre-evacuation ultrasonographic evaluation, laboratory tests and finally histological assessment as gold standard. Since these disorders show varying potential for local invasion and metastasis, the accurate diagnosis, follow up and recommendations given to patients may differ.Methods: Consecutive cases with diagnosis of GTD from archive of pathology department of women (Mirza Kochak Khan hospital were reviewed in whom results of clinical presentation and pre-evacuation ultrasound examination were documented. There were overall 220 cases for which the following clinical features were determined: gravidity, parity, history of previous abortion and gestational trophoblastic disease, the clinical symptoms such as vaginal bleeding and hypertension. Finally concordance between pre-evacuation ultrasonographic and histological diagnosis by kappa test is calculated.Results: Out of 220 cases with clinically gestational trophoblastic disease diagnosis, 197 cases were confirmed by histological diagnosis. The concluding histological diagnosis includes: 98 cases of complete mole (CM, 84 partial mole (PM, 4 invasive mole and 11 cases of choriocarcinoma. Outside 98 cases with histological diagnosis CM only in 4 cases misdiagnosed by ultrasonoghraphy (4.1% and high degree of concordance between ultrasonography and histological diagnosis is seen.Conclusion: Ultrasonographic examination accompanied with clinical examination, beside histological assessment as gold standard have high efficacy in diagnosing  complete mole. This study did not show this finding for

  8. Long-term instrumental parameter investigation of a Fabry-Perot spectrometer at an isolated field station.

    Science.gov (United States)

    Hernandez, G; McCarthy, M P

    2011-05-01

    To insure that long-term determinations of Doppler width and shift--derived from observations of atmospheric emissions--are internally consistent and reliable, we have developed a method to both continuously and nonintrusively determine and monitor the instrumental constants of the Fabry-Perot spectrometer making the observations. We have used this method at our isolated field experiment at South Pole, Antarctica, because the instrument is only accessible to us for a few days every year. Here we report both the method and the Fabry-Perot stability results for the past 22 years of operation. The method involves the description of real Fabry-Perot instrumental constants as a small departure from those of an ideal Fabry-Perot. In general, this model is applicable for most observations. However, experimentally, there are times when the small-departure model is not applicable, thus indicating how to best reduce the observations into physical quantities for the utmost consistency in the geophysical results.

  9. The GREGOR Fabry-P\\'erot Interferometer

    CERN Document Server

    Puschmann, K G; Kneer, F; Erdogan, N Al; Balthasar, H; Bauer, S M; Beck, C; González, N Bello; Collados, M; Hahn, T; Hirzberger, J; Hofmann, A; Louis, R E; Nicklas, H; Okunev, O; Pillet, V Martínez; Popow, E; Seelemann, T; Volkmer, R; Wittmann, A D; Woche, M

    2012-01-01

    The GREGOR Fabry-P\\'erot Interferometer (GFPI) is one of three first-light instruments of the German 1.5-meter GREGOR solar telescope at the Observatorio del Teide, Tenerife, Spain. The GFPI uses two tunable etalons in collimated mounting. Thanks to its large-format, high-cadence CCD detectors with sophisticated computer hard- and software it is capable of scanning spectral lines with a cadence that is sufficient to capture the dynamic evolution of the solar atmosphere. The field-of-view (FOV) of 50" x 38" is well suited for quiet Sun and sunspot observations. However, in the vector spectropolarimetric mode the FOV reduces to 25" x 38". The spectral coverage in the spectroscopic mode extends from 530-860 nm with a theoretical spectral resolution R of about 250,000, whereas in the vector spectropolarimetric mode the wavelength range is at present limited to 580-660 nm. The combination of fast narrow-band imaging and post-factum image restoration has the potential for discovery science concerning the dynamic Su...

  10. Results of Q Disease Tests With 350-MHz Spoke Cavities

    Science.gov (United States)

    Tajima, Tsuyoshi; Edwards, Randy L.; Krawczyk, Frank L.; Liu, Jian-Fei; Schrage, Dale L.; Shapiro, Alan H.

    2003-07-01

    Spoke cavities have been developed at LANL for an accelerator-driven nuclear waste transmutation system. One of the most important issues for this development is how we can build and operate the accelerator at minimum costs. It would save a significant amount of money if we do not need to heat treat the cavity at high temperatures to avoid Q disease. This motivated us to check to see if Q disease occurs with 350-MHz spoke cavities. We have tested 3 cavities, ANL, LANL/EZ02 and LANL/EZ01 so far. The ANL cavity was made of RRR˜150 and the LANL cavities were made of RRR˜250 niobium. The ANL cavity was chemically polished 98 microns at LANL with a standard buffered chemical polishing (BCP) solution, i.e., HF:HNO3:H3PO4=1:1:2 by volume, at 14 - 18 °C. We did not see any Q degradation after holding the cavity at 100 - 102 K for 13 hours or at 100 - 142 K for 86 hours. This cavity was unintentionally baked at >200 °C under poor vacuum, which may have caused thicker oxide layer that prevent the Q disease from occurring as well as due to lower RRR. The LANL/EZ02 and LANL/EZ01 cavities were polished 150 microns with standard BCP solution at <15 °C. The LANL/EZ02 cavity showed a ˜50 % Q degradation after holding the cavity at 100 - 132 K for 61 hours. More systematic tests with LANL/EZ01 to determine the dangerous temperature range precisely are under way by changing the holding temperature every 10 K. The detail of the results will be presented here.

  11. [Pramipexole in Parkinson disease. Results of a treatment observation].

    Science.gov (United States)

    Reichmann, H; Brecht, H M; Kraus, P H; Lemke, M R

    2002-08-01

    Pramipexole is a novel, internationally available selective nonergot D2 dopamine agonist. The effectiveness, tolerability, and safety of pramipexole have been extensively proven in controlled trials in patients in the early and advanced stage of Parkinson's disease as monotherapy and in combination with L dopa. These trials indicated specific activity against tremor, anhedonia, and depression. Therefore, the present prospective, multicenter postmarketing surveillance study evaluated for the first time to what extent the results from the controlled pramipexole trials could be replicated under routine conditions in neurological practice and clinics. Modern scales were applied for the assessment of tremor and mood, i.e., the Short Parkinson's Evaluation Scale (SPES), the Tremor Impact Scale (TIS), and the German version of the Snaith-Hamilton Pleasure Scale (SHAPS-D). In 298 German Centers, 657 Parkinson's patients (365 men, 292 women) in advanced disease stages were treated with pramipexole in combination with levodopa. The average ages (+/- SD) were 67 (+/- 8.9) years for men and 69 (+/- 9.4) years for females. Motor functioning, especially tremor, motor complications, depression, and activities of daily living improved highly significantly (P pramipexole prescribed was 1.05 mg and thus was definitely lower than the average daily dosages of 2.35-2.66 mg used in controlled trials. This signifies that the option to adjust dosage according to effectiveness and tolerability under routine conditions yields a considerably lower incidence of adverse effects.

  12. 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.

  13. 初级馈源位置对Fabry-Perot谐振天线性能的影响%Effect of Location of Primary Source on Fabry-Perot Resonator Antenna

    Institute of Scientific and Technical Information of China (English)

    刘震国

    2011-01-01

    通过平面波叠加法,分析了初级馈源位置对PEC和PMC作为接地板的2类Fabry-Perot谐振天线的最大方向性系数及其带宽的影响.分析表明初级馈源位置在满足特定条件取值时,Fabry-Perot谐振天线将获得最大的定向性,但其定向性带宽并不随馈源位置有明显改变.同时,首先指出定向性与其带宽的乘积仅是Fabry-Perot谐振天线的反射盖板其反射系数模的函数,并随着反射系数模的增加而趋于某一定值.最后进行了仿真验证,仿真结果与理论计算具有很好的一致性,对Fabry-Perot谐振天线的设计具有很好的理论指导意义.%The directivity and its bandwidth properties of Fabry-Perot resonator antennas made of two different ground pWe covered with a pautially-reflecting surface are studied theoretically, respectively. The relationship between the directivity and the primary source location is also obtained. It is shown that the directivity of Fabry-Perot resonator will obtain its maximum when primary source is located吐 certain of position for different type of ground plate. But the directivity bandwidth will not very obviously with the source location. At the same time the normalized product of maxium of directivity and its handwidth is a function of reflection coefficient of partially reflective 8Urface, which trends to certain constant with increase of reflection coefficient. Finally the simulated results of planar Fabry-Perot resonator antenna are validated to have good agreement with the calculated theoretically.

  14. Optical fiber Fabry-Perot interferometer for microorganism growth detection

    Science.gov (United States)

    Liu, Xiaohui; Jiang, Mingshun; Sui, Qingmei; Luo, Shuyang; Geng, Xiangyi

    2016-07-01

    An optical fiber Fabry-Perot interferometer (FPI) based on hollow-core photonic crystal fiber (HCPCF) for microorganism growth detection is proposed and demonstrated. The FPI is formed by splicing both ends of a short section of HCPCF to SMFs and cleaving the SMF pigtail to a proper length. By measuring the fringe contrast of interference pattern, the refractive index (RI) changes of analyte during microorganism growth can be obtained. RI response of the sensor was investigated theoretically and experimentally. It shows linear response with sensitivity of -136 dB/RIU and good repeatability. Temperature response was also tested and the result confirms the low temperature cross-sensitivity of the sensor. Detection of yeast growth in liquid medium by the FPI sensor was conducted and the result shows the characteristic of typical yeast growth curve. With its advantages of high RI sensitivity, low temperature cross-sensitivity, capability for real-time measurement and so on, this FPI sensor has great potential in biosensing.

  15. Calibrating echelle spectrographs with Fabry-Perot etalons

    CERN Document Server

    Bauer, Florian F; Reiners, Ansgar

    2015-01-01

    Over the past decades hollow-cathode lamps have been calibration standards for spectroscopic measurements. Advancing to cm/s radial velocity precisions with the next generation of instruments requires more suitable calibration sources with more lines and less dynamic range problems. Fabry-Perot interferometers provide a regular and dense grid of lines and homogeneous amplitudes making them good candidates for next generation calibrators. We investigate the usefulness of Fabry-Perot etalons in wavelength calibration, present an algorithm to incorporate the etalon spectrum in the wavelength solution and examine potential problems. The quasi periodic pattern of Fabry-Perot lines is used along with a hollow-cathode lamp to anchor the numerous spectral features on an absolute scale. We test our method with the HARPS spectrograph and compare our wavelength solution to the one derived from a laser frequency comb. The combined hollow-cathode lamp/etalon calibration overcomes large distortion (50 m/s) in the wavelengt...

  16. Predictors of the results of radioiodine therapy of Gagves’ disease

    Directory of Open Access Journals (Sweden)

    G V Shestakova

    2010-09-01

    Full Text Available The aim of this study was to investigate different clinical and laboratory predictors influence on radioiodine therapy results for Graves' disease. A 1-year prospective study was performed on 621 patients treated with empirical radioiodine therapy. Mean administered dose of 131I was 350 MBq. All patients were divided into two groups with small (<25 ml and large (>25 ml thyroid gland volume. One day before radioiodine therapy all patients were examined with fT4 measurement and radioiodine uptake test to determine percentage uptake at 2 h, 4 h, and 24 h after test dose of 131I administration. Unique universal method to estimate predictors influence for any classification task was presented and used for actual task of radioiodine therapy results estimation. For patients with small thyroid gland volume a set of 11 predictors that have an influence on therapy result was revealed and importance of each predictor from indicated set was determined. The most influential predictors were administered dose of 131I, thyroid gland volume, percentage uptake at 24 h after test dose of 131I administration, and patient age. For patients with large thyroid gland volume a set of 10 predictors was revealed. The most influential predictors were administered dose of 131I, thyroid gland volume, percentage uptake at 2 h after test dose of 131I administration, and patient age. Accounting all predictors from indicated sets for both patient groups allows constructing of classification system that provides therapy result estimation for any patient and any administered dose of 131I with accuracy above 90%.

  17. Active Sensing with Fabry-Perot Infrared Interferometers

    Science.gov (United States)

    Huang, Jin; Gosangi, Rakesh; Gutierrez-Osuna, Ricardo

    2011-09-01

    In this article, we describe an active-sensing framework for infrared (IR) spectroscopy. The goal is to generate a sequence of wavelengths that best discriminates among chemicals. Unlike feature-selection strategies, the sequence is selected on-the-fly as the device acquires data. The framework models the problem as a Partially Observable Markov Decision Process (POMDP), which is solved by a greedy myopic algorithm. In previous work [1], we had applied this framework to temperature-modulated metal oxide sensor. Here, we adapt the framework to a tunable IR sensor based on Fabry-Perot interferometers (FPI). FPIs provide a low-cost alternative to traditional Fourier Transform Infrared Spectroscopy (FTIR), though at the expense of a narrower effective range and lower spectral resolution. Here, we first test whether the framework can scale up to large problems consisting 27 chemicals with 60 dimensions; our previous work on metal oxide sensors employed three chemicals and 7 dimensions. For this purpose, FPI spectra are simulated from FTIR. Then we validate the framework experimentally on 3 chemicals using a prototype instrument based on FPIs. These preliminary results are encouraging and indicate that the framework is able to solve classification problems of reasonable size.

  18. Fabry-Perot Interferometer for Column CO2: Airborne

    Science.gov (United States)

    Kawa, S. R.; Heaps, W. S.; Mao, J.; Andrews, A. E.; Burris, J. F.; Miodek, M.; Georgieva, E.

    2002-01-01

    Global atmospheric CO2 measurements are essential to resolving significant discrepancies in our understanding of the global carbon budget and, hence, humankind's role in global climate change. The science measurement requirements for CO2 are, however, extremely demanding (precision approximately 0.3%). We are developing a novel application of a Fabry-Perot interferometer to detect spectral absorption of reflected sunlight by CO2 and O2 in the atmosphere that should be able to achieve sufficient sensitivity and signal-to-noise to measure column CO2 at the target specification. We are currently constructing a prototype instrument for deployment on aircraft. The aircraft version will measure total column CO2 and CO2 below the aircraft as well as O2, which allows normalization of CO2 column amounts for varying surface height and pressure. This instrument will be a valuable asset in carbon budget field studies as well as a useful tool for evaluating existing and future space-based CO2 measurements. We will present the instrument concept, sensitivity calculations, and the results of testing a bench system in the laboratory and outdoors on the ground. We will also discuss our plan for deployment on the aircraft and potential flight applications to the CO2 budget problem.

  19. Time Delay Properties of a Fabry-Perot Interferometer

    Institute of Scientific and Technical Information of China (English)

    YUAN Shi; MAN Wei-Ning; YU Jin; GAO Jin-Yue

    2001-01-01

    The time delay properties of a Fabry-Perot interferometer are investigated. We found that the group velocity of light through a Fabry-Perot interferometer can be reduced to 10-4 of the light speed in vacuum and the time delay is 210ns, when the reflectivity is 0.999 and the distance between two mirrors is 1 cm. The system is analogous to the recently proposed one-dimensional photonic band-gap structures with a defect [Zhu et al. Opt.Commun. 174(2000)139].

  20. [Predator disease sampling results in Montana 1993-1995

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This document contains data from predator disease sampling in Montana for the reintroduction of black-footed ferrets at Charles M. Russell National Wildlife Refuge....

  1. Mathematical model of Fabry-Perot cavity filter%WDM设计中的Fabry-Perot腔传递函数模型

    Institute of Scientific and Technical Information of China (English)

    孙雅东; 武良春

    2003-01-01

    作为WDM(Wave Division Multiplexing)一个重要的器件,Fabry-Perot腔的相关设计和算法不断更新.笔者提出一种新的数学模型:把Fabry-Perot作为系统的一个参数对待,将信号与系统的知识纳入Fabry-Perot腔中,用系统的方法(梅森公式)求解Fabry-Perot腔的传递函数,避免了繁琐的矩阵运算,这样易于理解和优化设计.

  2. Hα kinematics of nearby galaxies using Fabry-Perot and IFU data

    Science.gov (United States)

    Erroz-Ferrer, Santiago; S4G Team; MUSE-GTO Consortium

    2017-03-01

    I present here analysis of the shapes of the rotation curves of a large sample of nearby spiral galaxies with high angular and spectral resolution Hα (Fabry-Perot GHαFaS) kinematics, and the resulting constraints on their total mass distributions. In particular I discuss how their rotation curve shapes relate to key galaxy properties. Finally I present related results from the MUSE Atlas of Disks (MAD) program, which is dissecting the nearby disk population with IFU spectroscopy at ~100pc resolution.

  3. A Fabry-Perot Solid Etalon for Teaching.

    Science.gov (United States)

    Bruce, P. J.; And Others

    1986-01-01

    Describes a solid etalon Fabry-Perot interferometer, discussing free spectral range, instrumental finesse, and temperature effects. Provides schematic of temperature control/display circuit. Explains use of 100 millimeter camera lens and 10 power micrometer eyepiece for resolving rings and measure diameters. (JM)

  4. A Coaxial Cable Fabry-Perot Interferometer for Sensing Applications

    Directory of Open Access Journals (Sweden)

    Ming Luo

    2013-11-01

    Full Text Available This paper reports a novel coaxial cable Fabry-Perot interferometer for sensing applications. The sensor is fabricated by drilling two holes half-way into a coaxial cable. The device physics was described. The temperature and strain responses of the sensor were tested. The measurement error was calculated and analyzed.

  5. Development of the Fabry-Perot Spectrometer Application

    Science.gov (United States)

    Browne, Kathryn

    2015-01-01

    Methane is a greenhouse gas with global warming effects 20 times more detrimental than carbon dioxide. Currently, only aircraft missions measure methane and do not provide continuous monitoring, This presentation will cover the Fabry-Perot spectrometer which will provide continuous monitoring of methane. It will also cover the development of the software used to extract and process the data the spectrometer collects.

  6. Gamma irradiation of Fabry-Perot interband cascade lasers

    Energy Technology Data Exchange (ETDEWEB)

    Myers, Tanya L.; Cannon, Bret D.; Brauer, Carolyn S.; Canedy, Chadwick L.; Kim, Chul Soo; Kim, Mijin; Merritt, Charles D.; Bewley, William W.; Vurgaftman, Igor; Meyer, Jerry R.

    2017-09-20

    Two Fabry-Perot interband cascade lasers (ICLs) were exposed to Cobalt-60 gamma rays for a dosage of 500 krad(Si) each, which is higher than is typically encountered in space applications. The ICLs do not show any significant changes in threshold current or slope efficiency, suggesting the suitability of ICLs for use in radiation environments.

  7. Silicon Carbide Mounts for Fabry-Perot Interferometers

    Science.gov (United States)

    Lindemann, Scott

    2011-01-01

    Etalon mounts for tunable Fabry- Perot interferometers can now be fabricated from reaction-bonded silicon carbide structural components. These mounts are rigid, lightweight, and thermally stable. The fabrication of these mounts involves the exploitation of post-casting capabilities that (1) enable creation of monolithic structures having reduced (in comparison with prior such structures) degrees of material inhomogeneity and (2) reduce the need for fastening hardware and accommodations. Such silicon carbide mounts could be used to make lightweight Fabry-Perot interferometers or could be modified for use as general lightweight optical mounts. Heretofore, tunable Fabry-Perot interferometer structures, including mounting hardware, have been made from the low-thermal-expansion material Invar (a nickel/iron alloy) in order to obtain the thermal stability required for spectroscopic applications for which such interferometers are typically designed. However, the high mass density of Invar structures is disadvantageous in applications in which there are requirements to minimize mass. Silicon carbide etalon mounts have been incorporated into a tunable Fabry-Perot interferometer of a prior design that originally called for Invar structural components. The strength, thermal stability, and survivability of the interferometer as thus modified are similar to those of the interferometer as originally designed, but the mass of the modified interferometer is significantly less than the mass of the original version.

  8. Variable Free Spectral Range Spherical Mirror Fabry-Perot Interferometer

    CERN Document Server

    Kerner, K; Yashchuk, V V; Budker, D; Kerner, Katherine; Rochester, Simon M.; Yashchuk, Valeriy V.

    2003-01-01

    A spherical Fabry-Perot interferometer with adjustable mirror spacing is used to produce interference fringes with frequency separation (c/2L)/N, N=2-15. The conditions for observation of these fringes are derived from the consideration of the eigenmodes of the cavity with high transverse indices.

  9. Recent results of laparoscopic surgery in inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Hermann Kessler; Jonas Mudter; Werner Hohenberger

    2011-01-01

    Inflammatory bowel diseases are an ideal indication for the laparoscopic surgical approach as they are basi-cally benign diseases not requiring lymphadenectomy and extended mesenteric excision; well-established surgical procedures are available for the conventional approach. Inflammatory alterations and fragility of the bowel and mesentery, however, may demand a high level of laparoscopic experience. A broad spectrum of operations from the rather easy enterostomy formation for anal Crohn’s disease (CD) to restorative procto-colectomies for ulcerative colitis (UC) may be managed laparoscopically. The current evidence base for the use of laparoscopic techniques in the surgical therapy of inflammatory bowel diseases is presented. CD limited to the terminal ileum has become a common indication for laparoscopic surgical therapy. In severe anal CD, laparoscopic stoma formation is a standard procedure with low morbidity and short operative time. Studies comparing conventional and laparoscopic bowel resec-tions, have found shorter times to first postoperative bowel movements and shorter hospital stays as well as lower complication rates in favour of the laparoscopic approach. Even complicated cases with previous sur-gery, abscess formation and enteric fistulas may be op-erated on laparoscopically with a low morbidity. In UC, restorative proctocolectomy is the standard procedure in elective surgery. The demanding laparoscopic approach is increasingly used, however, mainly in major centers; its feasibility has been proven in various studies. An in-creased body mass index and acute inflammation of the bowel may be relative contraindications. Short and long-term outcomes like quality of life seem to be equivalent for open and laparoscopic surgery. Multiple studies have proven that the laparoscopic approach to CD and UC is a safe and successful alternative for selected patients. The appropriate selection criteria are still under inves-tigation. Technical considerations are

  10. Dual-frequency comb generation with differing GHz repetition rates by parallel Fabry-Perot cavity filtering of a single broadband frequency comb source

    Science.gov (United States)

    Mildner, Jutta; Meiners-Hagen, Karl; Pollinger, Florian

    2016-07-01

    We present a dual-comb-generator based on a coupled Fabry-Perot filtering cavity doublet and a single seed laser source. By filtering a commercial erbium-doped fiber-based optical frequency comb with CEO-stabilisation and 250 MHz repetition rate, two broadband coherent combs of different repetition rates in the GHz range are generated. The filtering doublet consists of two Fabry-Perot cavities with a tunable spacing and Pound-Drever-Hall stabilisation scheme. As a prerequisite for the development of such a filtering unit, we present a method to determine the actual free spectral range and transmission bandwidth of a Fabry-Perot cavity in situ. The transmitted beat signal of two diode lasers is measured as a function of their tunable frequency difference. Finally, the filtering performance and resulting beat signals of the heterodyned combs are discussed as well as the optimisation measures of the whole system.

  11. Locking IR and UV diode lasers to a visible laser using a LabVIEW PID controller on a Fabry-Perot signal

    CERN Document Server

    Kwolek, J M; Goodman, D S; Smith, W W

    2015-01-01

    Simultaneous laser locking of IR and UV lasers to a visible reference laser is demonstrated via a Fabry-Perot cavity. LabVIEW is used to analyze the input and an internal PID algorithm converts the Fabry-Perot signal to an analog locking feedback signal. The locking program stabilized both lasers to a long term stability of less than 12 MHz, with the lab-built IR laser undergoing signi?cant improvement in frequency stabilization. The results of this study demonstrate the viability of a simple computer-controlled, non temperature-stabilized Fabry-Perot locking scheme for our applications, laser cooling of Ca+ ions, and its use in other applications with similar modest frequency stabilization requirements.

  12. [Intermittent thrombolytic treatment. Results during severe, chronic arterial diseases].

    Science.gov (United States)

    Fiessinger, J N; Aiach, M; Lagneau, P; Cormier, J M; Housset, E

    1975-04-20

    38 patients with severe chronic arteritis of the lower limbs were treated with streptokinase intermittently. All had been refused for surgical operation. One patient died, 4 others had early interruption of treatment. Eleven of the 38 patients had efficient thrombolysis confirmed by arteriography. The facts confirm the possibility of thrombolysis during chronic arterial disease. The fact that the aggravation was recent was favourable factor in prognosis. The eleven patients improved, had severe aggravation of symptomes for less than 2 months. Thus thrombolytic treatment has a place of choice in the treatment of severe arterial disease where surgery is impossible, or dangerous, owing to the uncertain state of the vascular bed below the lesion. Efficacious, it permits reconstructive surgery in cases where it had been at first refused. The use of intermittent treatment, apart from advantages of confort and cost, seems to increase the efficacy of treatment.

  13. In-fiber Fabry-Perot interferometer for strain and magnetic field sensing.

    Science.gov (United States)

    Costa, Greice K B; Gouvêa, Paula M P; Soares, Larissa M B; Pereira, João M B; Favero, Fernando; Braga, Arthur M B; Palffy-Muhoray, Peter; Bruno, Antonio C; Carvalho, Isabel C S

    2016-06-27

    In this paper we discuss the results obtained with an in-fiber Fabry-Perot interferometer (FPI) used in strain and magnetic field (or force) sensing. The intrinsic FPI was constructed by splicing a small section of a capillary optical fiber between two pieces of standard telecommunication fiber. The sensor was built by attaching the FPI to a magnetostrictive alloy in one configuration and also by attaching the FPI to a small magnet in another. Our sensors were found to be over 4 times more sensitive to magnetic fields and around 10 times less sensitive to temperature when compared to sensors constructed with Fiber Bragg Grating (FBG).

  14. An All Fiber Intrinsic Fabry-Perot Interferometer Based on an Air-Microcavity

    Directory of Open Access Journals (Sweden)

    Ruth I. Mata-Chávez

    2013-05-01

    Full Text Available In this work an Intrinsic Fabry-Perot Interferometer (IFPI based on an air-microcavity is presented. Here the air microcavity, with silica walls, is formed at a segment of a hollow core photonic crystal fiber (HCPCF, which is fusion spliced with a single mode fiber (SMF. Moreover, the spectral response of the IFPI is experimentally characterized and some results are provided. Finally, the viability to use the IFPI to implement a simple, compact size, and low cost refractive index sensor is briefly analyzed.

  15. Characterization of miniature fiber-optic Fabry-Perot interferometric sensors based on hollow silica tube

    Science.gov (United States)

    Jia, Pinggang; Fang, Guocheng; Wang, Daihua

    2016-09-01

    A miniature fiber-optic Fabry-Perot interferometer (MOFPI) fabricated by splicing a hollow silica tube (HST) with inner diameter of 4 µm to the end of a single-mode fiber is investigated and experimentally demonstrated. The theoretical relationship between the free spectrum range and the length of HST is verified by fabricating several MOFPIs with different lengths. We characterize the MOFPIs for temperature, liquid refractive index, and strain. Experimental results show that the sensitivities of the temperature, liquid refractive index, and strain are 16.42 pm/°C,-118.56 dB/RIU, and 1.21 pm/µɛ, respectively.

  16. Electrically tunable Fabry-Péerot resonator based on microstructured Si containing liquid crystal

    KAUST Repository

    Tolmachev, Vladimir A.

    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.

  17. An optical fiber Fabry-Perot pressure sensor using corrugated diaphragm and angle polished fiber

    Science.gov (United States)

    Zhu, Jiali; Wang, Ming; Chen, Lu; Ni, Xiaoqi; Ni, Haibin

    2017-03-01

    In this paper, a Fabry-Perot pressure sensor using a corrugated diaphragm and angle polished fiber is proposed. A SU-8 structure using two step of lithography is formed to fix the polished fiber, which helps control the cavity length precisely. The fabrication process is described. The characteristics of both pressure and temperature are tested. Also the temperature compensation is realized. Experimental results show that the sensor has high sensitivity and good linearity over the pressure range of 0-0.1 MPa. The sensitivity (change in cavity/loaded pressure) is 705.64 μm/MPa.

  18. Cooperative effects of two optical dipole antennas coupled to plasmonic Fabry-Pérot cavity.

    Science.gov (United States)

    Yang, Zhong-Jian; Wang, Qu-Quan; Lin, Hai-Qing

    2012-09-07

    We investigate the cooperative effects of two optical dipole antennas that are coupled to a finite Au nanowire acting as plasmonic Fabry-Pérot (F-P) cavity. The coherent coupling between one single antenna and the F-P cavity can result in Fano resonance, and the coupling strength is antenna position dependent. For two antennas coupled to the F-P cavity, constructive or destructive interference between antennas could be achieved by adjusting their positions along the F-P cavity. Consequently, the Fano resonance will become stronger or weaker correspondingly.

  19. High precision optical fiber Fabry-Perot sensor for gas pressure detection

    Science.gov (United States)

    Mao, Yan; Tong, Xing-lin

    2013-09-01

    An optical fiber Fabry-Perot (F-P) sensor with quartz diaphragm for gas pressure testing was designed and fabricated. It consisted of single-mode fiber, hollow glass tube and quartz diaphragm. It uses the double peak demodulation to obtain the initialized cavity length. The variety of cavity length can be calcultated by the single peak demodulation after changing the gas pressure. The results show that the sensor is small in size, whose sensitivity is 19 pm/kPa in the range of the 10 ~ 260 kPa gas pressure. And it has good linearity and repeatability.

  20. Mesa Diaphragm-Based Fabry-Perot Optical MEMS Pressure Sensor

    Institute of Scientific and Technical Information of China (English)

    Yi-Xian Ge; Ming Wang; Hai-Tao Yan

    2008-01-01

    An optical micro electron mechanical system (MEMS) pressure sensor with a mesa membrane is presented. The operating principle of the MEMS pressure sensor is expatiated by the Fabry-Perot (F-P) interference and the relation between deflection and pressure is analyzed. Both the mechanical model of the mesa structure diaphragm and the signal averaging effect is validated by simulation, which declares that the mesa structure diaphragm is superior to the planar one on the parallelism and can reduce the signal averaging effect. Experimental results demonstrate that the mesa structure sensor has a reasonable linearity and sensitivity.

  1. Wind tunnel unsteady pressure measurements using a differential optical fiber Fabry-Perot pressure sensor

    Science.gov (United States)

    Correia, Ricardo; Staines, Stephen E.; James, Stephen W.; Lawson, Nicholas; Garry, Kevin; Tatam, Ralph P.

    2014-05-01

    A differential extrinsic optical fiber Fabry-Perot based pressure sensor has been developed and benchmarked against a conventional piezoresistive Kulite pressure sensor. The sensors were placed on the fuselage of a 1:10/3 sub-scale model of a Scottish aviation Bulldog, which was placed in a wind-tunnel. Pressure tappings that surrounded the sensors aided the mapping of pressure distribution around this section of the fuselage. The results obtained from the fibre optic pressure sensor are in good agreement with those obtained from the Kulite and from the pressure tappings.

  2. Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy.

    Science.gov (United States)

    Krämer, Johannes; Nordbeck, Peter; Störk, Stefan; Ritter, Christian; Ertl, Georg; Wanner, Christoph; Weidemann, Frank

    2015-10-27

    In Fabry cardiomyopathy, little is known about the interaction between its key feature of myocardial replacement fibrosis and changes in resting, Holter, and exercise electrocardiography (-ECG). Resting ECG, 24-h Holter ECG, and exercise ECG were performed in 95 patients (50 women) with Fabry disease, staged using cardiac magnetic resonance imaging to measure left ventricular fibrosis. With resting ECG, T alterations were seen in patients with cardiac fibrosis, while time intervals and rhythm were unchanged (except for a longer QRS duration in patients with severe fibrosis). All patients with severe fibrosis showed T inversion, ST alteration, or both. With Holter ECG, maximum and minimum heart rate did not differ with fibrosis severity. Patients without fibrotic tissue showed less ventricular premature beats (VPB) (median 5/24 h) compared to those with mild (median 11/24 h) or severe fibrosis (median 115/24 h; P 10 mmHg) occurred in some patients with no (3/41) or mild fibrosis (3/34) but not in patients with severe fibrosis (0/20; P Holter ECG. During exercise ECG, advanced cardiomyopathy is characterized by chronotropic incompetence with limitations on blood pressure and heart rate increase.

  3. Interstitial Lung Disease in India. Results of a Prospective Registry.

    Science.gov (United States)

    Singh, Sheetu; Collins, Bridget F; Sharma, Bharat B; Joshi, Jyotsna M; Talwar, Deepak; Katiyar, Sandeep; Singh, Nishtha; Ho, Lawrence; Samaria, Jai Kumar; Bhattacharya, Parthasarathi; Gupta, Rakesh; Chaudhari, Sudhir; Singh, Tejraj; Moond, Vijay; Pipavath, Sudhakar; Ahuja, Jitesh; Chetambath, Ravindran; Ghoshal, Aloke G; Jain, Nirmal K; Devi, H J Gayathri; Kant, Surya; Koul, Parvaiz; Dhar, Raja; Swarnakar, Rajesh; Sharma, Surendra K; Roy, Dhrubajyoti J; Sarmah, Kripesh R; Jankharia, Bhavin; Schmidt, Rodney; Katiyar, Santosh K; Jindal, Arpita; Mangal, Daya K; Singh, Virendra; Raghu, Ganesh

    2017-03-15

    Interstitial lung disease (ILD) is a heterogeneous group of acute and chronic inflammatory and fibrotic lung diseases. Existing ILD registries have had variable findings. Little is known about the clinical profile of ILDs in India. To characterize new-onset ILDs in India by creating a prospective ILD using multidisciplinary discussion (MDD) to validate diagnoses. Adult patients of Indian origin living in India with new-onset ILD (27 centers, 19 Indian cities, March 2012-June 2015) without malignancy or infection were included. All had connective tissue disease (CTD) serologies, spirometry, and high-resolution computed tomography chest. ILD pattern was defined by high-resolution computed tomography images. Three groups independently made diagnoses after review of clinical data including that from prompted case report forms: local site investigators, ILD experts at the National Data Coordinating Center (NDCC; Jaipur, India) with MDD, and experienced ILD experts at the Center for ILD (CILD; Seattle, WA) with MDD. Cohen's κ was used to assess reliability of interobserver agreement. A total of 1,084 patients were recruited. Final diagnosis: hypersensitivity pneumonitis in 47.3% (n = 513; exposure, 48.1% air coolers), CTD-ILD in 13.9%, and idiopathic pulmonary fibrosis in 13.7%. Cohen's κ: 0.351 site investigator/CILD, 0.519 site investigator/NDCC, and 0.618 NDCC/CILD. Hypersensitivity pneumonitis was the most common new-onset ILD in India, followed by CTD-ILD and idiopathic pulmonary fibrosis; diagnoses varied between site investigators and CILD experts, emphasizing the value of MDD in ILD diagnosis. Prompted case report forms including environmental exposures in prospective registries will likely provide further insight into the etiology and management of ILD worldwide.

  4. [The Roman coronary heart disease prevention program. Final results].

    Science.gov (United States)

    1982-01-01

    The Rome Project of Coronary Heart Disease Prevention (PPCC) is a primary prevention trial of coronary heart disease; it represents the Italian section of the WHO European Multifactor Preventive Trial of CHD. The study has been carried out in 4 working groups of male subjects aged 40-59 years at entry, two groups (a total of 3,131 men) being assigned to treatment and the other two (a total of 2,896 men) to control, with a 6-year follow-up. The preventive intervention aimed at reducing or modifying: mean levels of serum cholesterol (generally through dietary prescriptions and, in a smaller number of subjects, with drug treatment), smoking habits (subjects were advised to reduce or stop smoking); overweight (by means of diet); sedentary life-style (with increased physical activity). The intervention program has also involved other factors such as high levels of serum triglycerides, blood glucose and serum uric acid. The treatment was carried out through individual sessions on about one third of subjects belonging to the upper part of an estimated coronary risk score, while mass education was administered to the remaining two thirds. No intervention at all was offered to the control groups. Changes in the levels of risk factors were measured through periodical examinations of the whole population enrolled in the trial. Monitoring of both fatal and non fatal morbid events provided data on mortality and incidence trends. Over the 6 years of follow-up, the mean reduction in the mean levels of the main coronary risk factors in treated groups, as compared to controls, was as follows: serum cholesterol: 4.8%; systolic blood pressure: 4.6%; number of cigarettes per day: 8.7%; body weight: 2.4%; estimated coronary risk: 38.9%. At the end of the 6 years of observation, mortality for all causes was lower by 6.0% to 10.7% in treated groups than in controls; mortality for coronary heart disease was also lower (by 26.8% to 30.2%), as well as the incidence of fatal plus non

  5. Fabry-Perot CCD annular-summing spectroscopy: study and implementation for aeronomy applications.

    Science.gov (United States)

    Coakley, M M; Roesler, F L; Reynolds, R J; Nossal, S

    1996-11-20

    The technique of Fabry-Perot CCD annular-summing spectroscopy, with particular emphasis on applications in aeronomy, is discussed. Parameter choices for optimizing performance by the use of a standard format CCD array are detailed. Spectral calibration methods, techniques for determining the ring pattern center, and effects imposed by limited radial resolution caused by superpixel size, variable by on-chip binning, are demonstrated. The technique is carefully evaluated experimentally relative to the conventional scanning Fabry-Perot that uses a photomultiplier detector. We evaluate three extreme examples typical of aeronomical spectroscopy using calculated signal-to-noise ratios. Predicted sensitivity gains of 10-30 are typical. Of the cases considered, the largest savings in integration time are estimated for the day sky thermospheric O(1)D case, in which the bright sky background dominates the CCD read noise. For profile measurements of faint night sky emission lines, such as exospheric hydrogen Balmer-α, long integration times are required to achieve useful signal-to-noise ratios. In such cases, CCD read noise is largely overcome. Predictions of a factor of 10-15 savings in integration time for night sky Balmer-α observations are supported by field tests. Bright, isolated night sky lines such as thermospheric O(1)D require shorter integration times, and more modest gains dependent on signal level are predicted. For such cases it appears from estimate results that the Fabry-Perot CCD annular-summing technique with a conventional rectangular format may be outperformed by a factor of 2-5 by special CCD formats or by unusual optical coupling configurations that reduce the importance of read noise, based on the ideal transmission for any additional optics used in these configurations.

  6. Homoarginine and progression of chronic kidney disease: results from the Mild to Moderate Kidney Disease Study.

    Directory of Open Access Journals (Sweden)

    Christiane Drechsler

    Full Text Available BACKGROUND: Homoarginine is an amino acid derivative mainly synthesized in the kidney. It is suggested to increase nitric oxide availability, enhance endothelial function and to protect against cardiovascular diseases. We aimed to investigate the relation between homoarginine, kidney function and progression of chronic kidney disease (CKD. METHODS: We measured plasma homoarginine concentrations in baseline samples of the Mild to Moderate Kidney Disease (MMKD Study, a prospective cohort study of 227 patients with CKD in Europe. Homoarginine concentrations were available in 182 of the baseline samples and in 139 of the prospectively-followed patients. We correlated homoarginine concentrations to parameters of kidney function. The association between homoarginine and progression of CKD was assessed during a follow-up of up to seven years (median 4.45 years, interquartile range 2.54-5.19 using Cox regression analysis. Progression of CKD was defined as doubling of baseline serum creatinine and/or end-stage renal disease. RESULTS: Study participants were at baseline on average 47±13 years old and 65% were male. Mean±standard deviation of homoarginine concentrations were 2.5±1.1 µmol/L and concentrations were incrementally lower at lower levels of GFR with mean concentrations of 2.90±1.02 µmol/L (GFR>90 ml/min, 2.64±1.06 µmol/L (GFR 60-90 ml/min, 2.52±1.24 µmol/L (GFR 30-60 ml/min and 2.05±0.78 µmol/L (GFR<30 ml/min, respectively (p = 0.002. The age- and sex-adjusted risk to reach the renal endpoint was significantly higher by 62% with each decrease by one standard deviation (1.1 µmol/L of homoarginine (HR 1.62, 95% CI 1.16-2.27, p = 0.005. This association was independent of proteinuria (HR 1.56, 95% CI 1.11-2.20, p = 0.01, and was slightly attenuated when adjusting for GFR (HR 1.40 (95% CI 0.98-1.98, p = 0.06. CONCLUSIONS: Homoarginine concentrations are directly correlated with kidney function and are significantly

  7. A switchable fiber laser based on an all-fiber Fabry-Perot filter

    Science.gov (United States)

    Lopez-Dieguez, Y.; Jauregui-Vázquez, D.; Estudillo-Ayala, J. M.; Herrera-Piad, L. A.; Rojas-Laguna, R.; Sierra-Hernandez, J. M.; Hernandez-Garcia, J. C.; Harush-Negari, A. B.

    2017-02-01

    In this experimental manuscript, a switchable Erbium-doped fiber ring laser based on an all-fiber Fabry-Perot filter was demonstrated. The filter is composed by several air micro-cavities formed into a section of a single-mode fiber splice joints with special hollow-core photonic crystal fiber. These micro-cavities are formed by air and silica, which produces several reflections generated at each silica-air-silica interfaces. Using this experimental setup we obtain a very high stable triple-laser emission at 1529.450nm, 1549.100nm and 1555.350nm with a linewidth of 0.2nm and a side-mode suppression ratio of 32dB, 37dB and 29dB respectively. These laser emission show a maximal peak power fluctuation around 0.4dB, 1.5dB and 2.6dB, with 0.025nm of wavelength oscillations. These results were observed after monitoring the laser cavity during an hour by recording the data each three minutes. By appropriately adjusting of transversal load applied over the Fabry-Perot filter between 0g and 550g, the ring laser cavity can be operated in double- wavelength, triple- wavelength, or quadruple- wavelength states. For this analysis, the all-fiber Fabry-Perot filter was set between a metal layer (below) and a thin glass layer (above) where transversal load was applied, here uniform load distribution over all the Fabry-Perot filter structure is achieved, as a result, the air intra-cavities that conform the filter are affected and the gain-losses profile is modified into the laser arrangement. The lasing emissions obtained in this work have a side-mode suppression ratio greater than 30dB. This ring laser cavity design offers a compact, simple and low-cost implementation and can be used in different applications where a very stable double, triple or quadruple laser lines are required.

  8. A compact frequency selective stop-band splitter by using Fabry-Perot nanocavity in a T-shaped waveguide

    Institute of Scientific and Technical Information of China (English)

    M Afshari Bavil; Sun Xiu-Dong

    2013-01-01

    By utilizing a Fabry-Perot (FP) nanocavity adjacent to T-shaped gap waveguide ports,spectrally selective filtering is realized.When the wavelength of incident light corresponds to the resonance wavelength of the FP nanocavity,the surface plasmons are captured inside the nanocavity,and light is highly reflected from this port.The resonance wavelength is determined by using Fabry-Perot resonance condition for the nanocavity.For any desired filtering frequency the dimension of the nanocavity can be tailored.The numerical results are based on the two-dimensional finite difference time domain simulation under a perfectly matched layer absorbing boundary condition.The analytical and simulation results indicate that the proposed structure can be utilized for filtering and splitting applications.

  9. Effect of Fabry-Perot resonances in disordered one-dimensional array of alternating dielectric bi-layers

    Energy Technology Data Exchange (ETDEWEB)

    Luna-Acosta, G.A. [Instituto de Fisica, Universidad Autonoma de Puebla, Apartado Postal J-48, Puebla, Pue., 72570 (Mexico); Makarov, N.M. [Instituto de Ciencias, Universidad Autonoma de Puebla, Priv. 17 Norte No 3417, Col. San Miguel Hueyotlipan, Puebla, Pue., 72050 (Mexico)

    2009-12-15

    We study numerically and analytically the role of Fabry-Perot resonances in the transmission through a one-dimensional finite array formed by two alternating dielectric slabs. The disorder consists in varying randomly the width of one type of layers while keeping constant the width of the other type. Our numerical simulations show that localization is strongly inhibited in a wide neighborhood of the Fabry-Perot resonances. Comparison of our numerical results with an analytical expression for the average transmission, derived for weak disorder and finite number of cells, reveals that such expression works well even for medium disorder up to a certain frequency. Our results are valid for photonic and phononic one-dimensional disordered crystals, as well as for semiconductor superlattices. (Abstract Copyright [2009], Wiley Periodicals, Inc.)

  10. Novel fabry-pérot cavity antenna with enhanced beam steering property using reconfigurable meta-surface

    Science.gov (United States)

    Xie, Peng; Wang, Guangming; Cai, Tong; Li, Haipeng; Liang, Jiangang

    2017-07-01

    Fabry-Pérot cavity (FPC) antenna is essential and widely used in communication system. However, conventional Fabry-Pérot cavity antennas suffer from limited working modes, small beam steering range, and also complex configurations. Here, we propose a novel reconfigurable meta-surface to extend the working modes of the FPC antenna, and thus enhanced beam steering angles (-54° to 54°). The reconfigurable meta-surface consists of 6 × 6 unit cells, occupying an area of 90 mm × 90 mm. The well-designed bias circuits can control the reflection phase of the meta-surface by tuning the states of the inserted PIN diodes, which results in 11 radiation directions of our FPC antenna. For experimental demonstration, we fabricate and assemble an antenna sample working at 5 GHz. Numerical and experimental results coincide well with each other, indicating enhanced radiation properties and wide applications of our FPC antenna.

  11. Human disease resulting from exposure to electromagnetic fields.

    Science.gov (United States)

    Carpenter, David O

    2013-01-01

    Electromagnetic fields (EMFs) include everything from cosmic rays through visible light to the electric and magnetic fields associated with electricity. While the high frequency fields have sufficient energy to cause cancer, the question of whether there are human health hazards associated with communication radiofrequency (RF) EMFs and those associated with use of electricity remains controversial. The issue is more important than ever given the rapid increase in the use of cell phones and other wireless devices. This review summarizes the evidence stating that excessive exposure to magnetic fields from power lines and other sources of electric current increases the risk of development of some cancers and neurodegenerative diseases, and that excessive exposure to RF radiation increases risk of cancer, male infertility, and neurobehavioral abnormalities. The relative impact of various sources of exposure, the great range of standards for EMF exposure, and the costs of doing nothing are also discussed.

  12. Frequency locking of an erbium-doped fiber ring laser to an external fiber Fabry-Perot resonator

    OpenAIRE

    Park, Namkyoo; Dawson, Jay W.; Vahala, Kerry J.

    1993-01-01

    An all-fiber, single-frequency, erbium-doped ring laser has been frequency locked to a resonance peak of an external fiber Fabry-Perot resonator by the Pound-Drever technique. In addition, feedback to the mode selection filter in the laser resonator eliminates occasional mode hopping completely, resulting in frequency-locked, stable, single-frequency operation of the laser for periods of several hours.

  13. Fiber Optic Fabry-Perot Current Sensor Integrated with Magnetic Fluid Using a Fiber Bragg Grating Demodulation.

    Science.gov (United States)

    Xia, Ji; Wang, Qi; Liu, Xu; Luo, Hong

    2015-07-09

    An optical fiber current sensor based on Fabry-Perot interferometer using a fiber Bragg grating demodulation is proposed. Magnetic fluid is used as a sensitive medium in fiber optical Fabry-Perot (F-P) cavity for the optical characteristic of magnetic-controlled refractive index. A Fiber Bragg grating (FBG) is connected after the F-P interferometer which is used to reflect the optical power at the Bragg wavelength of the interference transmission spectrum. The corresponding reflective power of the FBG will change with different external current intensity, due to the shift on the interference spectrum of the F-P interferometer. The sensing probe has the advantages of convenient measurement for its demodulation, low cost and high current measurement accuracy on account of its sensing structure. Experimental results show that an optimal sensitivity of 0.8522 nw/A and measurement resolution of 0.001 A is obtained with a FBG at 1550 nm with 99% reflectivity.

  14. Sub-micron silica diaphragm-based fiber-tip Fabry-Perot interferometer for pressure measurement.

    Science.gov (United States)

    Liao, Changrui; Liu, Shen; Xu, Lei; Wang, Chao; Wang, Yiping; Li, Zhengyong; Wang, Qiao; Wang, D N

    2014-05-15

    We demonstrate a sub-micron silica diaphragm-based fiber-tip Fabry-Perot interferometer for pressure sensing applications. The thinnest silica diaphragm, with a thickness of ∼320  nm, has been achieved by use of an improved electrical arc discharge technique. Such a sub-micron silica diaphragm breaks the sensitivity limitation imposed by traditional all-silica Fabry-Perot interferometric pressure sensors and, as a result, a high pressure sensitivity of ∼1036  pm/MPa at 1550 nm and a low temperature cross-sensitivity of ∼960  Pa/°C are achieved when a silica diaphragm of ∼500  nm in thickness is used. Moreover, the all-silica spherical structure enhanced the mechanical strength of the micro-cavity sensor, making it suitable for high sensitivity pressure sensing in harsh environments.

  15. Development of a New, Precise Near-infrared Doppler Wavelength Reference: A Fiber Fabry-Perot Interferometer

    CERN Document Server

    Halverson, Samuel; Ramsey, Lawrence; Redman, Stephen; Nave, Gillian; Wilson, John C; Hearty, Fred; Holtzman, Jon

    2012-01-01

    We present the ongoing development of a commercially available Micron Optics fiber-Fabry Perot Interferometer as a precise, stable, easy to use, and economic spectrograph reference with the goal of achieving <1 m/s long term stability. Fiber Fabry-Perot interferometers (FFP) create interference patterns by combining light traversing different delay paths. The interference creates a rich spectrum of narrow emission lines, ideal for use as a precise Doppler reference. This fully photonic reference could easily be installed in existing NIR spectrographs, turning high resolution fiber-fed spectrographs into precise Doppler velocimeters. First light results on the Sloan Digital Sky Survey III (SDSS-III) Apache Point Observatory Galactic Evolution Experiment (APOGEE) spectrograph and several tests of major support instruments are also presented. These instruments include a SuperK Photonics fiber supercontinuum laser source and precise temperature controller. A high resolution spectrum obtained using the NIST 2-m...

  16. Response of a new low-coherence Fabry-Perot sensor to hematocrit levels in human blood.

    Science.gov (United States)

    Jędrzejewska-Szczerska, Małgorzata

    2014-04-21

    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.

  17. 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.

  18. Curvature sensor based on a Fabry-Perot interferometer

    Science.gov (United States)

    Monteiro, Catarina; Ferreira, Marta S.; Kobelke, Jens; Schuster, Kay; Bierlich, Jörg; Frazão, Orlando

    2016-05-01

    A curvature sensor based on a Fabry-Perot interferometer is proposed. A capillary tube of silica is fusion spliced between two single mode fibers, producing a Fabry-Perot cavity. The light propagates in air, when passing through the capillary tube. Two different cavities are subjected to curvature and temperature. The cavity with shorter length shows insensitivity to both measurands. The larger cavity shows two operating regions for curvature measurement, where a linear response is shown, with a maximum sensitivity of 18.77pm/m-1 for the high curvature radius range. When subjected to temperature, the sensing head produces a similar response for different curvature radius, with a sensitivity of 0.87pm/°C.

  19. Optical power equalization using Fabry-Perot semiconductor optical amplifier

    Institute of Scientific and Technical Information of China (English)

    Yun Ling; Kun Qiu; Wei Zhang; Ying Pang

    2006-01-01

    A novel scheme of optical power equalization based on Fabry-Perot semiconductor optical amplifier (FPSOA) is proposed. Because of the gain characteristic of FP-SOA, real-time controlling mechanism according to input optical power is aborted in the scheme. The simulations show that 10-dB pulse peak power variation can be clamped in less than i dB. The influences of injecting current, pulse periods, and pulse width are discussed.

  20. 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

    a significant treatment effect: 13 of 32 patients (41%) who received migalastat and 9 of 32 patients (28%) who received placebo had a response at 6 months (P=0.30). Among patients with suitable mutant α-galactosidase who received migalastat for up to 24 months, the annualized changes from baseline...

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

    African Journals Online (AJOL)

    case series of five patient's along with the review of literature is presented here. Keywords: ... underwent a renal transplant biopsy to ascertain the cause of ... A 16-year-old male presented in March 2002 with a fever of unknown origin and splenomegaly. ... There was no evidence of tuft necrosis/crescent formation or.

  2. From the "Göttingen" Fabry-Perot Interferometer to the GREGOR FPI

    Science.gov (United States)

    Puschmann, K. G.; Kneer, F.; Nicklas, H.; Wittmann, A. D.

    Fabry-Perot Interferometers (FPIs) have advantages over slit spectrographs, allowing fast two-dimensional, narrowband imaging and post factum image reconstruction of the spectropolarimetric data obtained. The resulting intensity, velocity and magnetic field maps are a fundamental base for the understanding of the dynamics of the solar atmosphere and its magnetic fields at smallest spatial scales. Efforts are undertaken to provide, with the Göttingen Fabry-Perot interferometer, an up-todate post-focus instrument for the German 1.5 m GREGOR solar telescope. Therefore a renewal of the spectrometer has been achieved during the first half of 2005. First observations at the German Vacuum Tower Telescope (VTT) reveal new scientific aspects and a very promising outlook for the future at GREGOR. In this contribution a general description of the upgraded spectrometer is given. Its final optical design at GREGOR is described and an optical analysis of the GREGOR FPI is outlined. Latest results with the new instrument obtained at the VTT are presented.

  3. Dynamics of a noncontacting, white light Fabry-Perot interferometric displacement sensor.

    Science.gov (United States)

    Moro, Erik A; Todd, Michael D; Puckett, Anthony D

    2012-07-01

    A white light extrinsic Fabry-Perot interferometer is implemented as a noncontacting displacement sensor, providing robust, absolute displacement measurements with micrometer accuracy at a sampling rate of 10 Hz. This paper presents a dynamic model of the sensing cavity between the sensor probe and the nearby target surface using a Fabry-Perot etalon approach obtained from straightforward electromagnetic field formulations. Such a model is important for system characterization, as the dynamically changing cavity length imparts a Doppler shift on any signals circulating within the sensing cavity. Contrary to previously published results, Doppler-induced shifting within the low-finesse sensing cavity is shown to significantly distort the measurement signal as recorded by the sensor. Experimental and simulation results are compared, and the direct effects of cavity dynamics on the measurement signal are analyzed along with their indirect impact on sensor performance. This document has been approved by Los Alamos National Laboratory for unlimited public release (LA-UR 12-00301).

  4. Formation of super-resolution spot through nonlinear Fabry-Perot cavity structures: theory and simulation.

    Science.gov (United States)

    Wei, Jingsong; Wang, Rui; Yan, Hui; Fan, Yongtao

    2014-04-07

    This study explores how interference manipulation breaks through the diffraction limit and induces super-resolution nano-optical hot spots through the nonlinear Fabry-Perot cavity structure. The theoretical analytical model is established, and the numerical simulation results show that when the thickness of the nonlinear thin film inside the nonlinear Fabry-Perot cavity structure is adjusted to centain value, the constructive interference effect can be formed in the central point of the spot, which causes the nanoscale optical hot spot in the central region to be produced. The simulation results also tell us that the hot spot size is sensitive to nonlinear thin film thickness, and the accuracy is required to be up to nanometer or even subnanometer scale, which is very large challenging for thin film deposition technique, however, slightly changing the incident laser power can compensate for drawbacks of low thickness accuracy of nonlinear thin films. Taking As(2)S(3) as the nonlinear thin film, the central hot spot with a size of 40nm is obtained at suitable nonlinear thin film thickness and incident laser power. The central hot spot size is only about λ/16, which is very useful in super-high density optical recording, nanolithography, and high-resolving optical surface imaging.

  5. Economic downturn results in tick-borne disease upsurge

    Directory of Open Access Journals (Sweden)

    Randolph Sarah E

    2011-03-01

    Full Text Available Abstract Background The emergence of zoonoses is due both to changes in human activities and to changes in their natural wildlife cycles. One of the most significant vector-borne zoonoses in Europe, tick-borne encephalitis (TBE, doubled in incidence in 1993, largely as a consequence of the socio-economic transition from communism to capitalism and associated environmental changes. Methods To test the effect of the current economic recession, unemployment in 2009 and various socio-economic indices were compared to weather indices (derived from principal component analyses as predictors for the change in TBE case numbers in 2009 relative to 2004-08, for 14 European countries. Results Greatest increases in TBE incidence occurred in Latvia, Lithuania and Poland (91, 79 and 45%, respectively. The weather was rejected as an explanatory variable. Indicators of high background levels of poverty, e.g. percent of household expenditure on food, were significant predictors. The increase in unemployment in 2009 relative to 2008 together with 'in-work risk of poverty' is the only case in which a multivariate model has a second significant term. Conclusion Background socio-economic conditions determine susceptibility to risk of TBE, while increased unemployment triggered a sudden increase in risk. Mechanisms behind this result may include reduced resistance to infection through stress; reduced uptake of costly vaccination; and more exposure of people to infected ticks in their forest habitat as they make greater use of wild forest foods, especially in those countries, Lithuania and Poland, with major marketing opportunities in such products. Recognition of these risk factors could allow more effective protection through education and a vaccination programme targeted at the economically most vulnerable.

  6. [Quartz-enhanced photoacoustic spectroscopy trace gas detection system based on the Fabry-Perot demodulation].

    Science.gov (United States)

    Lin, Cheng; Zhu, Yong; Wei, Wei; Zhang, Jie; Tian, Li; Xu, Zu-Wen

    2013-05-01

    An all-optical quartz-enhanced photoacoustic spectroscopy system, based on the F-P demodulation, for trace gas detection in the open environment was proposed. In quartz-enhanced photoacoustic spectroscopy (QEPAS), an optical fiber Fabry-Perot method was used to replace the conventional electronic demodulation method. The photoacoustic signal was obtained by demodulating the variation of the Fabry-Perot cavity between the quartz tuning fork side and the fiber face. An experimental system was setup. The experiment for detection of water vapour in the open environment was carried on. A normalized noise equivalent absorption coefficient of 2.80 x 10(-7) cm(-1) x W x Hz(-1/2) was achieved. The result demonstrated that the sensitivity of the all-optical quartz-enhanced photoacoustic spectroscopy system is about 2.6 times higher than that of the conventional QEPAS system. The all-optical quartz-enhanced photoacoustic spectroscopy system is immune to electromagnetic interference, safe in flammable and explosive gas detection, suitable for high temperature and high humidity environments and realizable for long distance, multi-point and network sensing.

  7. Fabry-Perot Based Radiometers for Precise Measurement of Greenhouse Gases

    Science.gov (United States)

    Heaps, William S.; Wilson, Emily L.; Georgieva, Elena

    2007-01-01

    Differential radiometers based upon the Fabry-Perot interferometer have been developed and demonstrated that exhibit very great sensitivity to changes in the atmospheric column of carbon dioxide, oxygen, and water vapor. These instruments employ a solid Fabry-Perot etalon that is tuned to the proper wavelength by changing the temperature. By choosing the thickness of the etalon its multiple pass bands can be made to align with regularly space absorption features of the molecule under investigation. Use of multiple absorption features improves the optical throughput of the instrument and improves the stability of the instrument response with respect to environmental changes. Efforts are underway at Goddard to extend this technique to the carbon 13 isotope of carbon dioxide and to methane. These instruments are intrinsically rugged and can be made rather small and inexpensively. They therefore hold promise for widespread use in ground based networks for calibration of satellite instruments such as OCO and GOSAT. Results will be presented for ground based and airborne operations for these systems. The effects of atmospheric scattering, pointing errors, pressure broadening and temperature effects will be discussed with regard to achieving precision better than .5% required for validation of carbon dioxide column measured from space. Designs permitting the extension of the technique to an even larger number of atmospheric species will be discussed along with theoretical analysis of potential system performance.

  8. Fabry-Perot Temperature Sensor for Quasi-Distributed Measurement Utilizing OTDR

    Institute of Scientific and Technical Information of China (English)

    Ping Xu; Fu-Fei Pang; Na Chen; Zhen-Yi Chen; Ting-Yun Wang

    2008-01-01

    A quasi-distributed Fabry-Perot fiber optic temperature sensor array using optical time domain reflectometry (OTDR) technique is presented. The F-P sensor is made by two face to face single-mode optical fibers and their surfaces have been polished. Due to the low reflectivity of the fiber surfaces, the sensor is described as low Fresnel Fabry-Perot interferometer (FPI). The working principle is analyzed using two-beam optical interference approximation. To measure the temperature, a certain temperature sensitive material is filled in the cavity. The slight changes of the reflective intensity which is induced by the refractive index of the material was eaught by OTDR. The length of the cavity is obtained by monitoring the interference spectrum which is used for the setting of the sensor static characteristics within the quasi-linear range. Based on our design, a three point sensor array are fabricated and characterized. The experimental results show that with the temperature increasing from -30℃ to 80℃, the reflectivity increase in a good linear manner. The sensitivity was approximate 0.074 dB℃. For the low transmission loss, more sensors can be integrated.

  9. Fabry-Perot腔滤波器的数学模型%The Mathematical Model of the Fabry-Perot Filter

    Institute of Scientific and Technical Information of China (English)

    齐永兴; 陈树强; 刘元安; 钱宗珏; 赵国谦

    2004-01-01

    将信号与系统的知识应用于Fabry-Perot(FP)腔滤波器的分析和设计中,避免了繁琐的矩阵运算,而且FP腔滤波器同整个系统紧密地联系在一起,使其成为一个以传递函数为特征的器件,更易于理解和优化设计.

  10. 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

  11. Wide-angle spectral imaging using a Fabry-Perot interferometer

    NARCIS (Netherlands)

    Strauch, M.; Livshits, I.L.; Bociort, F.; Urbach, H.P.

    2015-01-01

    We show that wide-angle spectral imaging can be achieved with compact and cost-effective devices using Fabry-Pérot interferometers. Designs with a full field of view of 90°, in which the Fabry-Pérot interferometer is mounted either in front of an imaging lens system or behind a telecentric lens syst

  12. 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

  13. The PVLAS experiment: measuring vacuum magnetic birefringence and dichroism with a birefringent Fabry-Perot cavity

    CERN Document Server

    Della Valle, F; Ejlli, A; Gastaldi, U; Messineo, G; Zavattini, G; Pengo, R; Ruoso, G

    2015-01-01

    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 the 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.

  14. Quantum and classical confinement of resonant states in a trilayer graphene Fabry-Pérot interferometer.

    Science.gov (United States)

    Campos, L C; Young, A F; Surakitbovorn, K; Watanabe, K; Taniguchi, T; Jarillo-Herrero, P

    2012-01-01

    The advent of few-layer graphene has given rise to a new family of two-dimensional systems with emergent electronic properties governed by relativistic quantum mechanics. The multiple carbon sublattices endow the electronic wavefunctions with pseudospin, a lattice analogue of the relativistic electron spin, whereas the multilayer structure leads to electric-field-effect tunable electronic bands. Here we use these properties to realize giant conductance oscillations in ballistic trilayer graphene Fabry-Pérot interferometers, which result from phase coherent transport through resonant bound states beneath an electrostatic barrier. We confine these states by selectively decoupling them from the leads, resulting in transport via non-resonant states and suppression of the giant oscillations. The confinement is achieved both classically, by manipulating quasiparticle momenta with a magnetic field, and quantum mechanically, by locally varying the pseudospin character of the carrier wavefunctions. Our results illustrate the unique potential of trilayer graphene as a versatile platform for electron optics and pseudospintronics.

  15. 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.)

  16. Holographic liquid crystal polarization grating with Fabry-Perot structure.

    Science.gov (United States)

    Sakamoto, Moritsugu; Yamaguchi, Haruki; Noda, Kohei; Sasaki, Tomoyuki; Kawatsuki, Nobuhiro; Ono, Hiroshi

    2016-03-15

    A holographic liquid crystal polarization grating with a Fabry-Perot structure was developed. Because of its resonant structure, the device offers high levels of control of the diffraction properties of incident-polarized light beams, depending on the resonance conditions. The diffracted light beams are emitted in both the reflection and transmission directions, and the device thus works as a multibranch polarization grating with double optical paths, unlike a conventional polarization grating. These device features were experimentally demonstrated and were also explained theoretically.

  17. Review: Research progress on Fabry-Perot resonator antenna

    Institute of Scientific and Technical Information of China (English)

    Zhen-guo LIU; Zhi-chen GE; Xi-yuan CHEN

    2009-01-01

    The Fabry-Perot resonator (FPR) antenna has found wide applications in microwave and millimeter waves and recently attracted considerable interest, in this paper, a summary of planar and cylindrical structures, analytic models and research development is presented, and a comparison between these structures and analytic models is made, showing that such analytic models as the FP cavity mode, electromagnetic band gap (EBG) defect mode, transmission line mode, and leaky-wave mode are consistent when applied to analyze this type of resonator antenna. Some interesting topics under recent research, including dual or multi-band, improvement of gain bandwidth, low profile and beam control, are surveyed.

  18. A stable fiber-based Fabry-Perot cavity

    CERN Document Server

    Steinmetz, T; Colombe, Y; Hunger, D; Hänsch, T W; Warburton, R J; Reichel, J

    2006-01-01

    We report the development of a fiber-based, tunable optical cavity with open access. The cavity is of the Fabry-Perot type and is formed with miniature spherical mirrors positioned on the end of single- or multi-mode optical fibers by a transfer technique which involves lifting a high-quality mirror from a smooth convex substrate, either a ball lens or micro-lens. The cavities typically have a finesse of $\\sim 1,000$ and a mode volume of 600 $\\mu$m$^3$. We demonstrate the detection of small ensembles of cold Rb atoms guided through such a cavity on an atom chip.

  19. 可调Fabry-Perot腔滤波器结构%On the Structure of Fabry-Perot Tunable Optical Filter

    Institute of Scientific and Technical Information of China (English)

    于多多

    2006-01-01

    设计了C波段可调光纤Fabry-Perot腔光滤波器,并对其进行了参数特性及影响因素的分析.器件在较宽的自由光谱区内有良好的滤光特性,可调谐范围广,优于绝大部分其他类型的光滤波器,并且具有较高的精细度特性.

  20. 光纤Fabry-Perot腔振动传感器%Fiber Optical Fabry-Perot Vibration Sensor

    Institute of Scientific and Technical Information of China (English)

    江毅; 刘莉

    2003-01-01

    用频谱分析的方法对光纤Fabry-Perot腔传感器的输出信号进行解调.在正弦振动条件下,用干涉信号的3次谐波与基次波的功率比直接计算出振动幅度,可以简单地解调出信号.这一技术能够满足工程中精度要求不是很高的场合应用.

  1. Error analysis of Fabry-Perot Filter%Fabry-Perot滤光器的误差分析

    Institute of Scientific and Technical Information of China (English)

    常亮; 刘忠

    2007-01-01

    本文介绍了影响Fabry-Perot滤光器性能的几个重要因素,并对其产生的误差进行了分析,主要有相位误差,温度变化对系统产生的误差,光线入射角度偏移所带来的误差以及平板平行度误差和平板面形精度对系统的影响等.

  2. Fiber-coupled short Fabry-Perot resonators

    Energy Technology Data Exchange (ETDEWEB)

    Stone, J.; Marcuse, D. (AT and T Bell Labs., Holmdel, NJ (USA))

    1989-05-01

    Fabry-Perot resonators intended as filters in wavelength-multiplexed optical communications systems may have to be very short (on the order of 10 {mu}m) in order to increase their free spectral range. Short, yet tunable cavities can be designed as air gaps between two fibers placed in close proximity with highly reflecting mirrors deposited on their ends. However, an air-gap resonator with plane mirrors between closely spaced fiber ends may yield low throughout because of the poor match between the modes of typical single-mode fibers and the resonant mode in the air-gap cavity. The throughput can be improved by confining the resonant mode by means of a hollow dielectric tube placed inside the resonator. This paper compares short fiber-coupled Fabry-Parot resonators with and without an inserted hollow dielectric waveguide and derives expressions for their transmission losses. The authors show that the throughput of both types of resonator can be improved significantly by using a special fiber with large mode size to couple to the resonator. The special fiber is then spliced to a conventional single-mode fiber. They conclude that the resonator with an inserted hollow dielectric waveguide offers increased throughput for resonators with high finesse.

  3. Hydrocarbon gas detection with microelectromechanical Fabry-Perot interferometer

    Science.gov (United States)

    Mannila, Rami; Tuohiniemi, Mikko; Mäkynen, Jussi; Näkki, Ismo; Antila, Jarkko

    2013-05-01

    VTT Technical Research Centre of Finland has developed microelectromechanical (MEMS) Fabry-Perot interferometer (FPI) for hydrocarbon measurements. Fabry-Perot interferometer is a structure where is two highly reflective surfaces separated by a tunable air gap. The MEMS FPI is a monolithic device, i.e. it is made entirely on one substrate in a batch process, without assembling separate pieces together. The gap is adjusted by moving the upper mirror with electrostatic force, so there are no actual moving parts. The manufactured MEMS FPIs have been characterized. The tuning wavelength range of the MEMS FPI is 2.8-3.5 μm and its spectral resolution is 50-60 nm. VTT has designed and manufactured a handheld size demonstrator device based on the technology presented in this abstract. This device demonstrates gas detecting by measuring cigarette lighter gas and various plastic materials transmission spectra. The demonstrator contains light source, gas cell, MEMS FPI, detector and control electronics. It is connected to a laptop by USB connection, additional power supply or connection is not needed.

  4. Association between tuberculin skin test result and clinical presentation of tuberculosis disease.

    Science.gov (United States)

    Auld, Sara C; Click, Eleanor S; Heilig, Charles M; Miramontes, Roque; Cain, Kevin P; Bisson, Gregory P; Mac Kenzie, William R

    2013-10-04

    The tuberculin skin test (TST) is used to test for latent tuberculosis (TB) infection and support the diagnosis of active TB. However, little is known about the relationship between the TST result and the clinical presentation of TB disease. We analyzed US TB surveillance data, 1993-2010, and used multinomial logistic regression to calculate the association between TST result (0-4 mm [negative], 5-9 mm, 10-14 mm, and  ≥ 15 mm) and clinical presentation of disease (miliary, combined pulmonary and extrapulmonary, extrapulmonary only, non-cavitary pulmonary, and cavitary pulmonary). For persons with pulmonary disease, multivariate logistic regression was used to calculate the odds of having acid-fast bacilli (AFB) positive sputum. There were 64,238 persons with culture-confirmed TB included in the analysis, which was stratified by HIV status and birthplace (US- vs. foreign-born). Persons with a TST ≥ 15 mm were less likely to have miliary or combined pulmonary and extrapulmonary disease, but more likely to have cavitary pulmonary disease than non-cavitary pulmonary disease. Persons with non-cavitary pulmonary disease with a negative TST were significantly more likely to have AFB positive sputum. Clinical presentation of TB disease differed according to TST result and persons with a negative TST were more likely to have disseminated disease (i.e., miliary or combined pulmonary and extrapulmonary). Further study of the TST result may improve our understanding of the host-pathogen relationship in TB disease.

  5. Fabry-Perot microcavity sensor for H2-breath-test analysis

    Science.gov (United States)

    Vincenti, Maria Antonietta; De Sario, Marco; Petruzzelli, V.; D'Orazio, Antonella; Prudenzano, Francesco; de Ceglia, Domenico; Scalora, Michael

    2007-10-01

    Leak detection of hydrogen for medical purposes, based on the monitoring of the optical response of a simple Fabry-Perot microcavity, is proposed to investigate either the occurrence of lactose intolerance, or lactose malabsorption condition. Both pathologic conditions result in bacterial overgrowth in the intestine, which causes increased spontaneous emission of H2 in the human breath. Two sensitivity figures of merit are introduced to inspect changes in the sensor response, and to relate the microcavity response to a pathologic condition, which is strictly related to a different level of exhaled hydrogen. Different sensor configurations using a metal-dielectric microcavity are reported and discussed in order to make the most of the well-known ability of palladium to spontaneously absorb hydrogen.

  6. Fabry-Perot based metal-dielectric multilayered filters and metamaterials.

    Science.gov (United States)

    Jen, Yi-Jun; Lee, Cheng-Chung; Lu, Kun-Han; Jheng, Ci-Yao; Chen, Yu-Jen

    2015-12-28

    The traditional three-layered metal-dielectric-metal Fabry-Perot filter is developed as a new metal-dielectric multilayered band-pass filter. Our design method allows metal and dielectric films to be alternatively arranged to achieve a narrow and high transmission peak and the peak height remains unchanged for any number of metal films arranged in the multilayer. Furthermore, the equivalent refractive index of a subwavelength metal-dielectric multilayer could be negative real at the passband of the filter and such metamaterial exhibits stronger figure of merit than a previous result. By choosing a material with high refractive index as the dielectric film, such metamaterial exhibits a pass band that depends weakly on the angle of incidence.

  7. Graphene-based electromagnetically induced transparency with coupling Fabry-Perot resonators.

    Science.gov (United States)

    Zhuang, Huawei; Kong, Fanmin; Li, Kang; Sheng, Shiwei

    2015-08-20

    We investigate the plasmonic analog of electromagnetically induced transparency (EIT) using two adjacent graphene-based Fabry-Perot (F-P) resonators side coupling to a nanoribbon waveguide. By the coupling mode theory in time and F-P resonant model, the destructive interference from the coupling of the two F-P resonators results in the EIT-like optical response. The induced peak and width of the transparency window can be dynamically manipulated by varying the coupling distance of the two resonators, and the transparent window is easily shifted by tuning the resonator length or the chemical potential of the graphene nanoribbon. In order to verify the characteristics of slow light, the group index profile is analyzed at different coupling distances. The proposed graphene-based EIT-like system could open up new opportunities for potential applications in plasmonic slow light and optical information buffering devices.

  8. Dual-band Fabry-Perot lasing from single ZnO microbelt

    Science.gov (United States)

    Zhu, Qiuxiang; Qin, Feifei; Lu, Junfeng; Zhu, Zhu; Shi, Zengliang; Xu, Chunxiang

    2016-10-01

    Dual-band semiconductor microbelt lasing are promising for multifunctional applications ranging from optical communication to spectroscopy analysis. Here, we demonstrated a dual-band Fabry-Perot (F-P) lasing from both length and width directions in a single ZnO microbelt. The lasing performance, spectral variation and mode structure significantly depended on the cavity size, which corresponded to the length and width of the ZnO microbelts. The resonant process and mechanism were investigated systematically through the experimental analysis and numerically FDTD simulation. The results of the dual-band F-P lasing modes and wide lasing wavelength are helpful to design the dual-wavelength electronic and optoelectronic devices.

  9. Advanced Interrogation of Fiber-Optic Bragg Grating and Fabry-Perot Sensors with KLT Analysis

    Directory of Open Access Journals (Sweden)

    Daniele Tosi

    2015-10-01

    Full Text Available 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.

  10. Advanced Interrogation of Fiber-Optic Bragg Grating and Fabry-Perot Sensors with KLT Analysis.

    Science.gov (United States)

    Tosi, Daniele

    2015-10-29

    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.

  11. BUBBLY: A method for detecting and characterizing interstellar bubbles using Fabry-Perot spectroscopy

    CERN Document Server

    Camps-Fariña, Artemi; Beckman, John E; Font, Joan; García-Lorenzo, Begoña; Erroz-Ferrer, Santiago; Amram, Philippe

    2014-01-01

    We present a new method for the detection and characterization of expansion in galaxy discs based on H{\\alpha} Fabry-Perot spectroscopy, taking advantage of the high spatial and velocity resolution of our instrument (GH{\\alpha}FaS). The method analyses multi-peaked emission line profiles to find expansion along the line of sight on a point-by-point basis. At this stage we have centred our attention on the large scale structures of expanding gas associated with HII regions which show a characteristic pattern of expansion velocities, of order 100 km/s, as a result of both bubble shape and projection effects. We show an example of the expansion map obtained with our method from a superbubble detected in the Antennae galaxies. We use the information obtained from the method to measure the relevant physical parameters of the superbubbles, including their ages which can be used to date young star clusters.

  12. A compact LWIR Fourier transform imaging spectrometer employing a variable gap Fabry-Perot interferometer

    Science.gov (United States)

    Zhang, Fang; Gao, Jiaobo; Liu, Fang; Zhao, Yujie; Zheng, Yawei; Zhang, Lei

    2016-10-01

    With unique working principle and spectral characteristic, the long wave infrared (LWIR) interferometric spectral imaging is a popular technology with wide application in many fields. In order to miniaturize and light the instrument, a new method of LWIR spectral imaging system based on a variable gap Fabry-Perot (FP) interferometer is researched. With the system working principle analyzed, theoretically, it is researched that how to make certain the primary parameter, such as, the reflectivity of the two interferometric cavity surfaces and the wedge angle of interferometric cavity. A prototype is developed and good experimental results of blackbody and polypropylene film are obtained. The research shows that besides high throughput and high spectral resolution, the advantage of miniaturization is also simultaneously achieved in this method.

  13. Advancement of Optical Component Control for an Imaging Fabry-Perot Interferometer

    Science.gov (United States)

    Larar, Allen M.; Cook, William B.; Flood, Michael A.; Campbell, Joel F.; Boyer, Charles M.

    2009-01-01

    Risk mitigation activities associated with a prototype imaging Fabry-Perot Interferometer (FPI) system are continuing at the NASA Langley Research Center. The system concept and technology center about enabling and improving future space-based atmospheric composition missions, with a current focus on observing tropospheric ozone around 9.6 micron, while having applicability toward measurement in different spectral regions and other applications. Recent activities have focused on improving an optical element control subsystem to enable precise and accurate positioning and control of etalon plates; this is needed to provide high system spectral fidelity critical for enabling the required ability to spectrally-resolve atmospheric line structure. The latest results pertaining to methodology enhancements, system implementation, and laboratory characterization testing will be reported

  14. Nonlinear response of an ultracompact waveguide Fabry-Pérot resonator

    Science.gov (United States)

    Sederberg, S.; Elezzabi, A. Y.

    2013-01-01

    We experimentally demonstrate active tuning of an ultracompact silicon-on-insulator trapezoid Fabry-Pérot resonator having a volume of 5.31 μm3. We show that the ultrafast nonlinear dynamics arising from two-photon and free-carrier absorption can be used to achieve a signal attenuation of 66% in the device, and the changes in the steady-state resonant properties of the device resulting from the thermo-optic effect induce a large red-shift in its resonance of Δλ = 7.57 nm. It is envisaged that the insight gained from this class of device will be valuable in the integrated optics community as ultrafast modulators, and switches are designed to occupy smaller volumes.

  15. Light trapping in an ensemble of pointlike impurity centers in a Fabry-Perot cavity

    Science.gov (United States)

    Kuraptsev, A. S.; Sokolov, I. M.

    2016-08-01

    We report the development of quantum microscopic theory of quasiresonant dipole-dipole interaction in the ensembles of impurity atoms imbedded into transparent dielectric and located in a Fabry-Perot cavity. On the basis of the general approach we study the simultaneous influence of the cavity and resonant dipole-dipole interaction on the shape of the line of atomic transition as well as on light trapping in dense impurity ensembles. We analyze this influence depending on the size of the ensemble, its density, as well as on rms deviation of the transition frequency shifts caused by the symmetry disturbance of the internal fields of the dielectric medium. Obtained results are compared with the case when the cavity is absent. We show that the cavity can essentially modify cooperative polyatomic effects.

  16. Light trapping in an ensemble of point-like impurity centers in Fabry-Perot cavity

    CERN Document Server

    Kuraptsev, A S

    2016-01-01

    We report the development of quantum microscopic theory of quasi-resonant dipole-dipole interaction in the ensembles of impurity atoms imbedded into transparent dielectric and located into Fabry-Perot cavity. On the basis of the general approach we study the simultaneous influence of the cavity and resonant dipole-dipole interaction on the shape of the line of atomic transition as well as on light trapping in dense impurity ensembles. We analyze this influence depending on the size of the ensemble, its density, as well as on r.m.s. deviation of the transition frequency shifts caused by the symmetry disturbance of the internal fields of the dielectric medium. Obtained results are compared with the case when the cavity is absent. We show that the cavity can essentially modify cooperative polyatomic effects.

  17. Micro-ring resonator quality factor enhancement via an integrated Fabry-Perot cavity

    Directory of Open Access Journals (Sweden)

    Jiayang Wu

    2017-05-01

    Full Text Available We propose and experimentally demonstrate the enhancement in the filtering quality (Q factor of an integrated micro-ring resonator (MRR by embedding it in an integrated Fabry-Perot (FP cavity formed by cascaded Sagnac loop reflectors. By utilizing coherent interference within the FP cavity to reshape the transmission spectrum of the MRR, both the Q factor and the extinction ratio (ER can be significantly improved. The device is theoretically analyzed and practically fabricated on a silicon-on-insulator wafer. Experimental results show that up to 11-times improvement in the Q factor, together with an 8-dB increase in the ER, can be achieved via our proposed method. The impact of varying structural parameters on the device performance is also investigated and verified by the measured spectra of the fabricated devices with different structural parameters.

  18. Suppression of span in sealed microcavity Fabry-Perot pressure sensors

    Science.gov (United States)

    Mishra, Shivam; Rajappa, Balasubramaniam; Chandra, Sudhir

    2017-01-01

    Optical microelectromechanical system pressure sensors working on the principle of extrinsic Fabry-Perot (FP) interferometer are designed and fabricated for pressure range of 1-bar absolute. Anodic bonding of silicon with glass is performed under atmospheric pressure to form FP cavity. This process results in entrapment of gas in the sealed microcavity. The effect of trapped gas is investigated on sensor characteristics. A closed-loop solution is derived for the deflection of the diaphragm of a sealed microcavity pressure sensor. Phenomenon of "suppression of span" is brought out. The sensors are tested using white light interferometry technique. The residual pressure of the trapped gas is estimated from the experiments. The developed model has been used to estimate the deflection sensitivity of the free diaphragm and the extent of suppression of span after bonding.

  19. Thermal distortions of non-Gaussian beams in Fabry-Perot cavities

    Energy Technology Data Exchange (ETDEWEB)

    Miller, J [IGR, University of Glasgow, University Avenue, Glasgow, G12 8QQ (United Kingdom); Willems, P; Yamamoto, H; Agresti, J; DeSalvo, R [LIGO Laboratory, California Institute of Technology, 1200 E California Blvd, Pasadena, CA 91125 (United States)], E-mail: j.miller@physics.gla.ac.uk

    2008-12-07

    Thermal effects are already important in currently operating interferometric gravitational wave detectors. Planned upgrades of these detectors involve increasing optical power to combat quantum shot noise. We consider the ramifications of this increased power for one particular class of laser beams-wide, flat-topped, mesa beams. In particular we model a single mesa beam Fabry-Perot cavity having thermoelastically deformed mirrors. We calculate the intensity profile of the fundamental cavity eigenmode in the presence of thermal perturbations, and the associated changes in thermal noise. We also outline an idealized method of correcting for such effects. At each stage we contrast our results with those of a comparable Gaussian beam cavity. Although we focus on mesa beams the techniques described are applicable to any azimuthally symmetric system.

  20. MEMS and piezo actuator-based Fabry-Perot interferometer technologies and applications at VTT

    Science.gov (United States)

    Antila, Jarkko; Miranto, Akseli; Mäkynen, Jussi; Laamanen, Mari; Rissanen, Anna; Blomberg, Martti; Saari, Heikki; Malinen, Jouko

    2010-04-01

    Miniaturized spectrometers covering spectral regions from UV to thermal IR are of interest for several applications. For these purposes VTT has for many years been developing tuneable MEMS-based and more recently piezo-actuated Fabry-Perot Interferometers (FPIs). Lately several inventions have been made to enter new wavelengths in the VIS range and enlarge apertures of MEMS devices and also extending the wavelength range of piezo-actuated FPIs. In this paper the background and the latest FPI technologies at VTT are reviewed and new results on components and system level demonstrators are presented. The two FPI technologies are compared from performance and application point of view. Finally insight is given to the further development of next generation devices.

  1. 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.

  2. Fiber Current Sensor Based on Fabry-Perot%基于光纤Fabry-Perot的电流传感器

    Institute of Scientific and Technical Information of China (English)

    刘京诚; 姚小芳; 陈小强; 刘俊

    2007-01-01

    利用光纤抗电磁干扰、绝缘性好, 体积小等特性,提出一种新型的光纤电流传感器. 该传感器将悬臂梁结构和光纤Fabry-Perot相结合,基于材料力学理论和电磁感应原理,利用Fabry-Perot干涉仪原理来实现对电流的测量. 在解调方式上采用了相位解调法,分析了该传感器的工作原理及光纤F-P的测量原理,建立了光纤F-P腔的数学模型,推导出电流检测理论公式,并进行了相关实验,证明该电流传感器具有绝缘性好、结构简单、灵敏度高等优点.

  3. Disease management in healthcare organizations: results of in-depth interviews with disease management decision makers.

    Science.gov (United States)

    Whellan, David J; Cohen, Elizabeth J; Matchar, David B; Califf, Robert M

    2002-07-01

    Despite the widening use of disease management (DM) programs throughout the country, little is understood about the "state of DM" in healthcare systems and managed care organizations. To better characterize the range of users of DM in healthcare and to identify critical issues, both present and future, for DM. Qualitative survey. Forty-seven healthcare systems (n = 22) and managed care organizations (n = 25) were randomly selected. Decision makers were identified and interviewed between January 1, 2000, and March 31, 2000. We limited quantitative analysis to tabulations of suitable responses, without statistical testing. Responses were organized around 3 themes: models for DM, implementation strategies, and measurements of success. Of 47 decision makers surveyed, 42 (89%) reported that their organizations currently have (75%) or are working to develop (14%) DM programs. Although the goals of DM programs were similar, organizations took a variety of approaches to achieving these ends. There were typically 3 steps in implementing a DM program: analysis of patient data, external analysis, and organizational analysis. Decision makers believed that DM programs had only achieved partial success in reaching the 2 main goals of improved quality of care and cost savings. Given the variety of DM programs, there is a need to develop a classification scheme to allow for better comparison between programs. Further quantitative studies of decision makers' opinions would be helpful in developing programs and in designing necessary studies of patient management strategies.

  4. DEVELOPMENT OF EXTRINSIC FABRY-PEROT FIBER SENSOR AND ITS APPLICATION TO SMART MATERIALS%外腔式Fabry-Perot光纤传感器的研制及其在智能材料中的应用

    Institute of Scientific and Technical Information of China (English)

    黄民双; 梁大开; 邱浩; 陶宝祺

    2000-01-01

    In the work of developing extrinsic fabry-perot interferometric (EFPI), the key technology of polishing fiber optic endfaces and coating the multilayer of dielectric films on them is raised and resolved to settle the disturbance and stability problem of EFPI, which simplifies the sensing system, improves the sensor performance and reduces the cost. In this paper, the relations between the output interferential light intensity and the F-P cavity length are calculated based on the theory of mode field coupling. The EFPI fiber optic sensor is adhered to a distributed smart laminate beam to detect vibration frequency and axial strain value, the results coincident with the results tested by PZT.%在制作外腔式Fabry-Perot干涉 (FPEI) 光纤传感器中,提出并解决了基于抛光光纤端面并在其上镀上多层介质膜的关键技术,从而解决了外腔式Fabry-Perot干涉光纤传感器的干扰和稳定性问题.使探测系统大大简化,传感器性能显著增加,成本下降.本文还首次用模式理论计算了两波的干涉输出光强与位移的关系.最后将FPEI应变传感器贴附在一个分布式智能悬臂梁上,检测到振动频率及轴向应变值,其结果与用压电片监测到的结果完全一致.

  5. Focused ion beam post-processing of optical fiber Fabry-Perot cavities for sensing applications.

    Science.gov (United States)

    André, Ricardo M; Pevec, Simon; Becker, Martin; Dellith, Jan; Rothhardt, Manfred; Marques, Manuel B; Donlagic, Denis; Bartelt, Hartmut; Frazão, Orlando

    2014-06-01

    Focused ion beam technology is combined with chemical etching of specifically designed fibers to create Fabry-Perot interferometers. Hydrofluoric acid is used to etch special fibers and create microwires with diameters of 15 μm. These microwires are then milled with a focused ion beam to create two different structures: an indented Fabry-Perot structure and a cantilever Fabry-Perot structure that are characterized in terms of temperature. The cantilever structure is also sensitive to vibrations and is capable of measuring frequencies in the range 1 Hz - 40 kHz.

  6. A novel Michelson Fabry-Perot hybrid interference sensor based on the micro-structured fiber

    Science.gov (United States)

    Zhang, Yaxun; Zhang, Yu; Wang, Zhenzhen; Liu, Zhihai; Wei, Yong; Zhao, Enming; Yang, Xinghua; Zhang, Jianzhong; Yang, Jun; Yuan, Libo

    2016-09-01

    We propose and demonstrate a novel Michelson Fabry-Perot hybrid fiber interference sensor. By integrating a Michelson interferometer in a two-core fiber and a Fabry-Perot interferometer in a micro silica-capillary, we produce the Michelson Fabry-Perot hybrid interference sensor. Owing to the structure characteristic of the micro-structured fiber, this hybrid fiber interference sensor can achieve the measurement of the axial strain and radial bending simultaneously. The measurement sensitivity of the axial train is 0.015 nm/με and the measurement sensitivity of the radial bending is 1.393 nm/m-1.

  7. Two-Color Fabry-Perot Laser Diode with THz Primary Mode Spacing

    CERN Document Server

    O'Brien, S; Buckley, K; Fehse, R; Amann, A; O'Reilly, E P; Barry, L P; Anandarajah, P; Patchell, J; O'Gorman, J

    2006-01-01

    A class of multiwavelength Fabry-Perot lasers is introduced where the spectrum is tailored through a non-periodic patterning of the cavity effective index. The cavity geometry is obtained using an inverse scattering approach and can be designed such that the spacing of discrete Fabry-Perot lasing modes is limited only by the bandwidth of the inverted gain medium. A specific two-color semiconductor laser with a mode spacing in the THz regime is designed, and measurements are presented demonstrating the simultaneous oscillation of the two wavelengths. The extension of the Fabry-Perot laser concept described presents significant new possibilities in laser cavity design.

  8. 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.

  9. Influence of cavity loss on an extrinsic Fabry-Perot cavity intensity-based pressure sensor.

    Science.gov (United States)

    Lű, Tao

    2015-09-01

    We present an extrinsic Fabry-Perot cavity intensity-based pressure sensor that mainly comprises a single-mode fiber end and an elastic monocrystalline silicon layer bonded to a silicon diaphragm. We investigated the influence of cavity loss on the performance indexes (PIS) of the intensity-based extrinsic Fabry-Perot cavity optical fiber pressure sensor. A buffer unit made of three incompressible oil cavities attenuated outside pressure and transformed pressure information into cavity length microchange information. Experimental results indicated that, under center quadrature-points within the linear regions of adjacent fringes, for an applied 40 kPa external pressure, cavity length was modulated by pressures of 69.9 kPa-109.9 kPa, 150.1 kPa-190 kPa, 220.1 kPa-259.9 kPa, and 279.9 kPa-319.9 kPa, output intensity ranges increased as 1 μW, 1.02 μW, 1.03 μW, and 1.05 μW, sensitivity increased as 0.01909 μW/kPa, 0.01986 μW/kPa, 0.02127 μW/kPa, and 0.02387 μW/kPa, but linearity degraded, as indicated by the standard deviation of linear fits of 0.02607, 0.02664, 0.02935, and 0.04879 due to cavity loss. Furthermore, the pressure ranges within the same quarter period decreased as 40 kPa, 37.45 kPa, 32.4 kPa, and 30.15 kPa. Consequently, the same lengths of linear regions within adjacent fringes of an approximately sinusoidal curve corresponded to different measurement ranges, linearities, and sensitivities. Initial cavity length must be chosen to optimize both signal strength and the PIS studied here in manufacturing this type sensor.

  10. Development of high reflectivity coatings for large format Fabry-Perot etalons

    Science.gov (United States)

    Sigwarth, M.; Baumgartner, J.; Bell, A.; Cagnoli, G.; Fischer, A.; Halbgewachs, C.; Heidecke, F.; Kentischer, Th. J.; Kestner, B.; Kuschnir, P.; von der Lühe, O.; Pinard, L.; Michel, Ch.; Reichman, W. J.; Sassolas, B.; Scheiffelen, Th.; Schmidt, W.

    2016-08-01

    The Visible Tunable Filter (VTF) is a diffraction-limited narrowband tunable instrument for imaging spectropolarimetry in the wavelength range between 520 and 860 nm. It is based on large-format Fabry Perot. The instrument will be one of the first-light instruments of the 4m aperture Daniel K. Inoue Solar Telescope (DKIST). To provide a field of view of 1 arcmin and a spectral resolution λ/Δλ of about 100.000, the required free aperture of the Fabry Perot is 250mm. The high reflectivity coatings for the Etalon plates need to meet the specifications for the reflectivity over the entire wavelength range and preserve the plate figure specifications of better λ/300, and a micro roughness of French CNRS research laboratory, we developed and tested processes on small and full size substrates, to provide coated Etalon plates to the required specifications. Zygo Extreme Precision Optics, Richmond, CA, USA, is polishing and figuring the substrates, doing the metrology and FE analysis. LMA (Laboratoire Matériaux Avancés, Lyon, France) is designing and making the IBS coatings and investigating the detailed behavior of the coatings and related processes. Both partners provide experience from manufacturing coated plane optics for gravitational wave detection experiments and EUV optics. The Kiepenheuer-Institut für Sonnenphysik, Freiburg, Germany is designing and building the VTF instrument and is leading the coating development. We present the characteristics of the coatings and the substrate processing concept, as well as results from tests on sample size and from full size substrate processing. We demonstrate that the tight specifications for a single Etalon can be reached.

  11. Transparent Fabry-Perot polymer film ultrasound array for backward-mode photoacoustic imaging

    Science.gov (United States)

    Beard, Paul C.; Zhang, Edward Z. Y.; Cox, Benjamin T.

    2004-07-01

    A novel optical ultrasound sensor has been developed for backward-mode photoacoustic imaging. The sensor is based on a Fabry Perot polymer film interferometer, the mirrors of which are transparent to 1064nm, but highly reflective at 850nm. When illuminated by a CW interrogating laser source at the latter wavelength, the system acts as a resonant Fabry Perot (FP) sensing cavity, the reflected intensity output of which is dependent upon acoustically-induced changes in the optical thickness of the polymer film. By optically addressing different regions of the sensor, a notional ultrasound array of arbitrary aperture and dimensionality can be synthesised. The system was demonstrated in backward mode by transmitting 1064nm excitation laser pulses through the sensor into an Intralipid scattering solution (μa=0.03mm-1, μs'=1mm-1) containing various absorbing structures and detecting the resulting photoacoustic signals over a line. A 1D depth profile of a 1.3mm thick absorbing polymer sheet (´a=0.8mm-1) immersed to a depth of 12mm in the Intralipid solution was obtained by performing an 11mm linescan. In another experiment, a 3-layer structure consisting of 0.076mm thick line absorbers was immersed in Intralipid and a 2D image reconstructed from the detected photoacoustic signals using an inverse k-space reconstruction algorithm. Lateral resolution was 0.4mm and the vertical resolution 0.1mm. The ability of this system to map wideband photoacoustic signals with high sensitivity in backward mode may provide a useful tool for high resolution imaging of superficial tissue structures such as the skin microvasculature.

  12. T-SPOT.TB Test(R) results in adults with Mycobacterium avium complex pulmonary disease.

    Science.gov (United States)

    Adams, Lisa V; Waddell, Richard D; Von Reyn, C Fordham

    2008-01-01

    The tuberculin skin test is limited by its inability to distinguish between infection with Mycobacterium tuberculosis and non-tuberculous mycobacteria (NTM). Newer interferon-gamma release assays using ESAT-6 and CFP-10 antigens should have a higher specificity for tuberculosis but have not been widely tested in adults with pulmonary disease due to NTM. In this study, we tested the T-SPOT.TB Test in patients with pulmonary disease due to Mycobacterium avium complex (MAC), the most common disease-causing NTM. Fourteen patients with prior culture-confirmed pulmonary disease due to MAC, 10 patients with prior culture-confirmed tuberculosis and 4 healthy controls were interviewed and tested with the T-SPOT.TB Test. 13 patients with MAC disease and 4 healthy subjects (negative controls) had non-reactive T-SPOT.TB results and 10 patients with prior tuberculosis (positive controls) had reactive results. One patient with MAC disease had a minimally reactive result on initial testing and a non-reactive result on re-testing. The T-SPOT.TB Test had a specificity of 94% for distinguishing between patients with prior MAC disease and prior tuberculosis disease, and will be useful in low tuberculosis prevalence settings where most mycobacterial infections are due to MAC. Reactions to the T-SPOT.TB Test may persist months to years after treatment of tuberculosis.

  13. Fabry-Perot Observations of HH 1/2

    Directory of Open Access Journals (Sweden)

    A. Riera

    2005-01-01

    Full Text Available Presentamos nuevas observaciones Fabry-Perot del sistema HH1/2 en la l nea de H. Se han obtenidos los perfiles de las l neas, y los mapas de velocidad radial y de dispersi n de velocidades a partir de los canales de velocidad de los objetos HH 1 y HH 2. La distribuci on espacial de la velocidad radial de ambos objetos (HH 1, HH 2 presenta material desplazado al rojo hacia la fuente, y material desplazado al azul alej ndose de la fuente. Un modelo que contempla la presencia de emisi n directa+dispersada con tres condensaciones emisoras reproduce cualitativamente la distribuci n espacial de la velocidad radial y de la dispersi n de velocidades de HH 2.

  14. Millimeter-long fiber Fabry-Perot cavities.

    Science.gov (United States)

    Ott, Konstantin; Garcia, Sebastien; Kohlhaas, Ralf; Schüppert, Klemens; Rosenbusch, Peter; Long, Romain; Reichel, Jakob

    2016-05-01

    We demonstrate fiber Fabry-Perot (FFP) cavities with concave mirrors that can be operated at cavity lengths as large as 1.5 mm without significant deterioration of the finesse. This is achieved by using a laser dot machining technique to shape spherical mirrors with ultralow roughness and employing single-mode fibers with large mode area for good mode matching to the cavity. Additionally, in contrast to previous FFPs, these cavities can be used over an octave-spanning frequency range with adequate coatings. We also show directly that shape deviations caused by the fiber's index profile lead to a finesse decrease as observed in earlier attempts to build long FFP cavities, and show a way to overcome this problem.

  15. Millimeter-long Fiber Fabry-Perot cavities

    CERN Document Server

    Ott, Konstantin; Kohlhaas, Ralf; Schüppert, Klemens; Rosenbusch, Peter; Long, Romain; Reichel, Jakob

    2016-01-01

    We demonstrate fiber Fabry-Perot (FFP) cavities with concave mirrors that can be operated at cavity lengths as large as 1.5mm without significant deterioration of the finesse. This is achieved by using a laser dot machining technique to shape spherical mirrors with ultralow roughness and employing single-mode fibers with large mode area for good mode matching to the cavity. Additionally, in contrast to previous FFPs, these cavities can be used over an octave-spanning frequency range with adequate coatings. We also show directly that shape deviations caused by the fiber's index profile lead to a finesse decrease as observed in earlier attempts to build long FFP cavities, and show a way to overcome this problem.

  16. A Fabry-Perot Microcavity for Diamond-Based Photonics

    CERN Document Server

    Janitz, Erika; Dimock, Mark; Bourassa, Alexandre; Sankey, Jack; Childress, Lilian

    2015-01-01

    Open Fabry-Perot microcavities represent a promising route for achieving a quantum electrodynamics (cavity-QED) platform with diamond-based emitters. In particular, they offer the opportunity to introduce high purity, minimally fabricated material into a tunable, high quality factor optical resonator. Here, we demonstrate a fiber-based microcavity incorporating a thick (> 10 {\\mu}m) diamond membrane with a finesse of 17,000, corresponding to a quality factor Q ~ $10^6$. Such minimally fabricated, thick samples can contain optically stable emitters similar to those found in bulk diamond. We observe modified microcavity spectra in the presence of the membrane, and develop analytic and numerical models to describe the effect of the membrane on cavity modes, including loss and coupling to higher-order transverse modes. We estimate that a Purcell enhancement of approximately 20 should be possible for emitters within the diamond in this device, and provide evidence that better diamond surface treatments and mirror ...

  17. Intrinsic Fabry-Perot optical fiber sensors and their multiplexing

    Science.gov (United States)

    Wang, Anbo

    2007-12-11

    An intrinsic Fabry-Perot optical sensor includes a thin film sandwiched between two fiber ends. When light is launched into the fiber, two reflections are generated at the two fiber/thin film interfaces due to a difference in refractive indices between the fibers and the film, giving rise to the sensor output. In another embodiment, a portion of the cladding of a fiber is removed, creating two parallel surfaces. Part of the evanescent fields of light propagating in the fiber is reflected at each of the surfaces, giving rise to the sensor output. In a third embodiment, the refractive index of a small portion of a fiber is changed through exposure to a laser beam or other radiation. Interference between reflections at the ends of the small portion give rise to the sensor output. Multiple sensors along a single fiber are multiplexed using an optical time domain reflectometry method.

  18. Photoacoustic imaging using an 8-beam Fabry-Perot scanner

    Science.gov (United States)

    Huynh, Nam; Ogunlade, Olumide; Zhang, Edward; Cox, Ben; Beard, Paul

    2016-03-01

    The planar Fabry Perot (FP) photoacoustic scanner has been shown to provide exquisite high resolution 3D images of soft tissue structures in vivo to depths up to approximately 10mm. However a significant limitation of current embodiments of the concept is low image acquisition speed. To increase acquisition speed, a novel multi-beam scanner architecture has been developed. This enables a line of equally spaced 8 interrogation beams to be scanned simultaneously across the FP sensor and the photoacoustic signals detected in parallel. In addition, an excitation laser operating at 200Hz was used. The combination of parallelising the detection and the high pulse repetition frequency (PRF) of the excitation laser has enabled dramatic reductions in image acquisition time to be achieved. A 3D image can now be acquired in 10 seconds and 2D images at video rates are now possible.

  19. Diffractively coupled Fabry-Perot resonator with power-recycling

    CERN Document Server

    Britzger, Michael; Kroker, Stefanie; Brückner, Frank; Burmeister, Oliver; Kley, Ernst-Bernhard; Tünnermann, Andreas; Danzmann, Karsten; Schnabel, Roman

    2011-01-01

    We demonstrate the optical coupling of two cavities without light transmission through a substrate. Compared to a conventional coupling component, that is a partially transmissive mirror, an all-reflective coupler avoids light absorption in the substrate and therefore associated thermal problems, and even allows the use of opaque materials with possibly favourable mechanical and thermal properties. Recently, the all-reflective coupling of two cavities with a low-efficiency 3-port diffraction grating was theoretically investigated. Such a grating has an additional (a third) port. However, it was shown that the additional port does not necessarily decrease the bandwidth of the coupled cavities. Such an all-reflective scheme for cavity coupling is of interest in the field of gravitational wave detection. In such detectors light that is resonantly enhanced inside the so-called power-recycling cavity is coupled to (kilometre-scale) Fabry-Perot resonators representing the arms of a Michelson interferometer. In orde...

  20. Fiber Fabry-Perot cavity with high finesse

    CERN Document Server

    Hunger, David; Colombe, Yves; Deutsch, Christian; Hänsch, Theodor W; Reichel, Jakob

    2010-01-01

    We have realized a fiber-based Fabry-Perot cavity with CO2 laser-machined mirrors. It combines very small size, high finesse F>=130000, small waist and mode volume, and good mode matching between the fiber and cavity modes. This combination of features is a major advance for cavity quantum electrodynamics (CQED), as shown in recent CQED experiments with Bose-Einstein condensates enabled by this cavity [Y. Colombe et al., Nature 450, 272 (2007)]. It should also be suitable for a wide range of other applications, including coupling to solid-state emitters, gas detection at the single-particle level, fiber-coupled single-photon sources and high-resolution optical filters with large stopband.

  1. 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.

  2. Streamwater chemistry and flow dynamics along vegetation-soil gradient in a subalpine Abies fabri forest watershed,China

    Institute of Scientific and Technical Information of China (English)

    SHAN Bao-qing; WANG Wei-dong; YIN Cheng-qing

    2004-01-01

    Streamwater chemistry and spatial flow dynamics from a subalpine Abies fabri forest in an experimental watershed located in the east slope of Gongga Mountain were analyzed to gain insights into the gradient effect of primary community succession on the stream biogeochemical process. Results showed that high sand content(exceeding 80%) and porosity in the soil(exceeding 20% in A horizon and 35% in B horizon), as well as a thick humus layer on the soil surface, made the water exchange quickly in the Huangbengliu(HBL) watershed. Consequently, no surface runoff was observed, and the stream discharge changed rapidly with the daily precipitation. The flow trends of base ions in the stream water were influenced by the Abies fabri succession gradient. Ca2+, HCO3- and SO42- were the dominant anions in the streamwater in this region. A significant difference of Ca2+, HCO3- and SO42- concentration exported between the succession stages in the watershed can be found. But they had the similar temporal change in the stream flow. Ca2+, HCO3- and SO42- showed significantly negative correlations with the daily precipitation and the stream discharge. Concentrations of Cl-, Na+, K+, and Mg2+ were low in all streamwaters monitored and we observed no differences along the Abies fabri succession gradient. Low ratios of Na:(Na+Ca) (range from 0.1 to 0.2) implied cations were from bedrock weathering(internal source process in the soil system) in this region. But, a variance analysis showed there were almost no differences between rainwater and streamwaters for Mg2+, Na+, K+, and Cl- concentrations. This indicated that they might be come from rainfall inputs (external source). We suggest that the highly mobile capacity, rapid water exchange between precipitation and discharge, and long-term export lead to this observed pattern.

  3. Demonstrations Using a Fabry-Perot. I. Multiple-Slit Interference

    Science.gov (United States)

    Roychoudhuri, Chandrasekhar

    1975-01-01

    Describes a demonstration technique for showing multiple-slit interference patterns with the use of a Fabry-Perot etalon and a laser beam. A simple derivation of the analytical expression for such fringes is presented. (Author/CP)

  4. Fabry-Perot Based Ranging Interferometer Receiver for High Spectral Resolution Lidar Project

    Data.gov (United States)

    National Aeronautics and Space Administration — Michigan Aerospace Corporation (MAC) is pleased to present the following Phase II proposal for a Fabry-Perot Based Interferometer Receiver for the High Spectral...

  5. A Novel Technique to Measure Gain Spectrum for Fabry-Pérot Semiconductor Lasers

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    A novel gain measurement technique based on the integration of the measured amplified spontaneous emission spectrum multiplying a phase function over one longitudinal mode interval is proposed for Fabry-Perot semiconductor lasers.

  6. Sinusoidal Phase-Modulating Fabry-Perot Interferometer for Angular Displacement Measurement

    Institute of Scientific and Technical Information of China (English)

    Caini Zhang; Xiangzhao Wang

    2003-01-01

    In this paper, a sinusoidal phase-modulating Fabry-Perot interferometer is proposed to measure angular displacement.The usefulness of the interferometer is demonstrated by simulations and experiments.

  7. Compact High-Resolution Broad-Band Terahertz Fabry-Perot Spectrometer Project

    Data.gov (United States)

    National Aeronautics and Space Administration — Our objective is to develop a compact scanning Fabry-Perot spectrometer, for satellite far-infrared astronomy and Earth remote sensing, that operates at wavelengths...

  8. Sinusoidal Phase-Modulating Fabry-Perot Interferometer for Angular Displacement Measurement

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    In this paper, a sinusoidal phase-modulating Fabry-Perot interferometer is proposed to measure angular displacement. The usefulness of the interferometer is demonstrated by simulations and experiments.

  9. Engineering-reflected phase in Fabry-Perot sensors with resonant mirrors.

    Science.gov (United States)

    Gellineau, Antonio; Wong, Yu-Po; Solgaard, Olav

    2013-12-01

    Fabry-Perot cavities made with photonic crystal (PC) mirrors and other resonant structures exhibit nontraditional characteristics due to the strong wavelength dependence of their reflected phase. This Letter describes how engineering the phase of PC mirrors enables sensors that are tolerant to variations in laser center frequency and line width. Reflection spectra measurements of Fabry-Perot cavities made with PC mirrors were collected as a function of wavelength and cavity length, providing experimental verification of theory and simulations.

  10. Results of a community translation of the "Women Take PRIDE" heart disease self-management program.

    Science.gov (United States)

    Gallant, Mary P; Pettinger, Tianna M; Coyle, Cassandra L; Spokane, Linda S

    2015-03-01

    This article reports the results of a community demonstration of an evidence-based heart disease self-management program for older women. Women Take PRIDE (WTP) is a group-based education and behavior modification program, based on social cognitive theory, designed to enhance heart disease self-management among older women. We implemented the program in community settings with 129 participants. Evaluation data was collected at baseline and at 4- and 12-month follow-ups. Outcomes included general health status, functional health status, and knowledge. Results showed significant improvements in self-rated health, energy, social functioning, knowledge of community resources, and number, frequency, and bother of cardiac symptoms. These results demonstrate that an evidence-based heart disease self-management program can be effective at improving health and quality of life among older women with heart disease when implemented in community settings. © The Author(s) 2013.

  11. Spatial patterns in discordant diagnostic test results for Chagas disease: links to transmission hotspots.

    Science.gov (United States)

    Levy, Michael Z; Bowman, Natalie M; Kawai, Vivian; Plotkin, Joshua B; Waller, Lance A; Cabrera, Lilia; Steurer, Frank; Seitz, Amy E; Pinedo-Cancino, Viviana V; Cornejo del Carpio, Juan Geny; Cordova Benzaquen, Eleazar; McKenzie, F Ellis; Maguire, James H; Gilman, Robert H; Bern, Caryn

    2009-04-15

    Diagnosis of Chagas disease is hindered by discordance between screening and confirmatory test results for Trypanosoma cruzi infection. In periurban Arequipa, Peru, spatial analysis revealed that individuals with discordant test results are spatially clustered in hotspots of T. cruzi transmission, suggesting that discordant results likely represent true infections in this setting.

  12. A Study of the Chaos of Non-linear Fabry-Perot Resonator%含非线性介质Fabry-Perot腔混沌研究

    Institute of Scientific and Technical Information of China (English)

    袁圣付; 姜宗福

    2000-01-01

    根据混沌动力学的基本理论,计算了含非线性介质Fabry-Perot腔动力学方程在其参数下的Lyapunov指数分布图.利用Lyapunov指数和动力学特性的对应关系,分析出非线性Fabry-Perot腔在各种参数下的动力学特性、稳态参数区域面积和混沌转换机制.

  13. [Deficits of routine occupational therapy services in rheumatic diseases: results of the RheumaDat study].

    Science.gov (United States)

    Thieme, H; Löffler, K; Borgetto, B

    2010-07-01

    The purpose of the present study is to describe the frequency and potential determinants of occupational therapy routine services in patients with rheumatic diseases. The study is based on a secondary analysis of the RheumaDat database. The results of the survey on 907 patients were analyzed regarding frequency of occupational therapy routine services and related sociodemographic and disease-specific variables. Approximately 8% of the study population received occupational therapy, patients with rheumatoid arthritis representing the largest proportion of these at 13%. Only patients with osteoarthritis showed a clear treatment pattern. Patients from this group receiving occupational therapy were older, had a longer duration of disease and were more affected. No clear appraisal of the therapy status in the rheumatoid arthritis or fibromyalgia group could be made. The results indicate shortages and the lack of a clear system in occupational therapy routine services in patients with different rheumatic diseases.

  14. The impact of infection on population health: results of the Ontario burden of infectious diseases study.

    Directory of Open Access Journals (Sweden)

    Jeffrey C Kwong

    Full Text Available BACKGROUND: Evidence-based priority setting is increasingly important for rationally distributing scarce health resources and for guiding future health research. We sought to quantify the contribution of a wide range of infectious diseases to the overall infectious disease burden in a high-income setting. METHODOLOGY/PRINCIPAL FINDINGS: We used health-adjusted life years (HALYs, a composite measure comprising premature mortality and reduced functioning due to disease, to estimate the burden of 51 infectious diseases and associated syndromes in Ontario using 2005-2007 data. Deaths were estimated from vital statistics data and disease incidence was estimated from reportable disease, healthcare utilization, and cancer registry data, supplemented by local modeling studies and national and international epidemiologic studies. The 51 infectious agents and associated syndromes accounted for 729 lost HALYs, 44.2 deaths, and 58,987 incident cases per 100,000 population annually. The most burdensome infectious agents were: hepatitis C virus, Streptococcus pneumoniae, Escherichia coli, human papillomavirus, hepatitis B virus, human immunodeficiency virus, Staphylococcus aureus, influenza virus, Clostridium difficile, and rhinovirus. The top five, ten, and 20 pathogens accounted for 46%, 67%, and 75% of the total infectious disease burden, respectively. Marked sex-specific differences in disease burden were observed for some pathogens. The main limitations of this study were the exclusion of certain infectious diseases due to data availability issues, not considering the impact of co-infections and co-morbidity, and the inability to assess the burden of milder infections that do not result in healthcare utilization. CONCLUSIONS/SIGNIFICANCE: Infectious diseases continue to cause a substantial health burden in high-income settings such as Ontario. Most of this burden is attributable to a relatively small number of infectious agents, for which many effective

  15. Current trends of management of respiratory diseases by pulmonologists: Results of National Conference of Pulmonary Disease - 2015 survey

    Directory of Open Access Journals (Sweden)

    Sheetu Singh

    2017-01-01

    Full Text Available Context: Respiratory diseases are a common problem in our country and these are associated with significant morbidity and mortality. Aims: The aim of the paper was to analyze the pattern of diagnostic tests used and treatment prescribed for common respiratory diseases. Settings and Design: A total of 1028 pulmonologists, either member of Indian Chest Society or delegate attending the National Conference of Pulmonary Diseases (NAPCON 2015, participated in the online survey. Subjects and Methods: The survey included questions pertinent to common respiratory diseases such as pulmonary tuberculosis (PTB, bronchial asthma, chronic obstructive pulmonary disease (COPD, idiopathic pulmonary fibrosis (IPF, and pneumonia. Results: Investigation used for severity assessment and diagnosis of PTB, was sputum for acid-fast bacilli (83.5%, for IPF was high-resolution computed tomography chest (85.6%, for severe pneumonia was arterial blood gas analysis (69.3%, for asthma was spirometery and peak flow (96.8% and for COPDs was spirometry (87.2%. The most popular choice of treatment for PTB was directly observed treatment short course (55.7%, for bronchial asthma, it was long-acting beta agonist with inhaled corticosteroids (LABA + ICSs (41.1%, for COPD, it was LABA, ICS, and long-acting muscarinic antagonist (LABA + ICS + long-acting muscarinic antagonist (32.4% and for IPF, it was pirfenidone and N acetyl cysteine (38.3%. About 67.5% of doctors preferred hospitalization for patients with severe pneumonia. About 84.5% pulmonologists ordered diagnostic tests and 55.5% prescribed treatment as per current guidelines. Conclusions: The majority of doctors (70.1% in our survey followed recommended guidelines for respiratory disease diagnosis and treatment. However, there is a need for upgradation of treatment strategies currently used by doctors.

  16. Current trends of management of respiratory diseases by pulmonologists: Results of National Conference of Pulmonary Disease - 2015 survey

    Science.gov (United States)

    Singh, Sheetu; Singh, Nishtha

    2017-01-01

    Context: Respiratory diseases are a common problem in our country and these are associated with significant morbidity and mortality. Aims: The aim of the paper was to analyze the pattern of diagnostic tests used and treatment prescribed for common respiratory diseases. Settings and Design: A total of 1028 pulmonologists, either member of Indian Chest Society or delegate attending the National Conference of Pulmonary Diseases (NAPCON) 2015, participated in the online survey. Subjects and Methods: The survey included questions pertinent to common respiratory diseases such as pulmonary tuberculosis (PTB), bronchial asthma, chronic obstructive pulmonary disease (COPD), idiopathic pulmonary fibrosis (IPF), and pneumonia. Results: Investigation used for severity assessment and diagnosis of PTB, was sputum for acid-fast bacilli (83.5%), for IPF was high-resolution computed tomography chest (85.6%), for severe pneumonia was arterial blood gas analysis (69.3%), for asthma was spirometery and peak flow (96.8%) and for COPDs was spirometry (87.2%). The most popular choice of treatment for PTB was directly observed treatment short course (55.7%), for bronchial asthma, it was long-acting beta agonist with inhaled corticosteroids (LABA + ICSs) (41.1%), for COPD, it was LABA, ICS, and long-acting muscarinic antagonist (LABA + ICS + long-acting muscarinic antagonist) (32.4%) and for IPF, it was pirfenidone and N acetyl cysteine (38.3%). About 67.5% of doctors preferred hospitalization for patients with severe pneumonia. About 84.5% pulmonologists ordered diagnostic tests and 55.5% prescribed treatment as per current guidelines. Conclusions: The majority of doctors (70.1%) in our survey followed recommended guidelines for respiratory disease diagnosis and treatment. However, there is a need for upgradation of treatment strategies currently used by doctors. PMID:28144054

  17. Periodontal disease, tooth loss and colorectal cancer risk: Results from the Nurses' Health Study.

    Science.gov (United States)

    Momen-Heravi, Fatemeh; Babic, Ana; Tworoger, Shelley S; Zhang, Libin; Wu, Kana; Smith-Warner, Stephanie A; Ogino, Shuji; Chan, Andrew T; Meyerhardt, Jeffrey; Giovannucci, Edward; Fuchs, Charles; Cho, Eunyoung; Michaud, Dominique S; Stampfer, Meir J; Yu, Yau-Hua; Kim, David; Zhang, Xuehong

    2017-02-01

    Periodontal diseases including tooth loss might increase systemic inflammation, lead to immune dysregulation and alter gut microbiota, thereby possibly influencing colorectal carcinogenesis. Few epidemiological studies have examined the association between periodontal diseases and colorectal cancer (CRC) risk. We collected information on the periodontal disease (defined as history of periodontal bone loss) and number of natural teeth in the Nurses' Health Study. A total of 77,443 women were followed since 1992. We used Cox proportional hazard models to calculate multivariable hazard ratios (HRs) and 95% confidence intervals (95% CIs) after adjustment for smoking and other known risk factors for CRC. We documented 1,165 incident CRC through 2010. Compared to women with 25-32 teeth, the multivariable HR (95% CI) for CRC for women with periodontal disease, HRs for CRC were 0.91 (95% CI 0.74-1.12) for periodontal disease, and 1.22 (95% CI 0.91-1.63) when limited to moderate to severe periodontal disease. The results were not modified by smoking status, body mass index or alcohol consumption. Women with fewer teeth, possibly moderate or severe periodontal disease, might be at a modest increased risk of developing CRC, suggesting a potential role of oral health in colorectal carcinogenesis. © 2016 UICC.

  18. Epidemiology of Uromodulin-Associated Kidney DiseaseResults from a Nation-Wide Survey

    Directory of Open Access Journals (Sweden)

    Karl Lhotta

    2012-06-01

    Full Text Available Background/Aims: Uromodulin-associated kidney disease (UAKD is caused by uromodulin mutations and leads to end-stage renal disease. Our objective was to examine the epidemiology of UAKD. Methods: Data from all UAKD families in Austria were collected. Patients included in the Austrian Dialysis and Transplantation Registry (OEDTR with unclear diagnoses or genetic diseases were asked whether they had (1 a family history of kidney disease or (2 had suffered from gout. Patients with gout and autosomal dominant renal disease underwent mutational analysis. Kaplan-Meier and Cox analysis was employed to estimate time to renal failure. Results: Of the 6,210 patients in the OEDTR, 541 were approached with a questionnaire; 353 patients answered the questionnaire. Nineteen of them gave two affirmative answers. In 7 patients, an autosomal dominant renal disease was found; in 1 patient a UMOD mutation was identified. One family was diagnosed through increased awareness as a consequence of the study. At present, 14 UAKD patients from 5 families are living in Austria (1.67 cases per million, and 6 of them require renal replacement therapy (0.73 per 1,000 patients. Progression to renal failure was significantly associated with UMOD genotype. Conclusion: UAKD patients can be identified by a simple questionnaire. UMOD genotype may affect disease progression.

  19. Fiber Optic Fabry-Perot Current Sensor Integrated with Magnetic Fluid Using a Fiber Bragg Grating Demodulation

    Directory of Open Access Journals (Sweden)

    Ji Xia

    2015-07-01

    Full Text Available An optical fiber current sensor based on Fabry-Perot interferometer using a fiber Bragg grating demodulation is proposed. Magnetic fluid is used as a sensitive medium in fiber optical Fabry-Perot (F-P cavity for the optical characteristic of magnetic-controlled refractive index. A Fiber Bragg grating (FBG is connected after the F-P interferometer which is used to reflect the optical power at the Bragg wavelength of the interference transmission spectrum. The corresponding reflective power of the FBG will change with different external current intensity, due to the shift on the interference spectrum of the F-P interferometer. The sensing probe has the advantages of convenient measurement for its demodulation, low cost and high current measurement accuracy on account of its sensing structure. Experimental results show that an optimal sensitivity of 0.8522 nw/A and measurement resolution of 0.001 A is obtained with a FBG at 1550 nm with 99% reflectivity.

  20. Real-time dynamic calibration of a tunable frequency laser source using a Fabry-Pérot interferometer

    Science.gov (United States)

    Mandula, Gábor; Kis, Zsolt; Lengyel, Krisztián

    2015-12-01

    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.

  1. Airborne Doppler lidar at 532nm based on a tunable dual-channel Fabry-Perot interferometer

    Science.gov (United States)

    Feng, Jian-mei; Xing, Ting-wen; Lin, Wi-mei

    2009-07-01

    The aim of this paper is to explore a high-precision, a wide range of a frequency discrimination technique, and to study the application of this technique in the optical air data system (MOADS). To overcome the traditional equipment's shortcomings of short velocity detecting range such as pilot static tubes and wind wane, this technique can provide precision aviation data for various aerocrafts , without influencing pneumatic shape and performance of aerocraft. A tunable dual channel Fabry-Perot interferometer is used as a frequency discriminator in an airborne wind lidar system. This new frequency discriminator has been proposed to overcome the exiting frequency discriminator shortcoming. By adjusting the cavity length of interferometer, the speed of aerocraft can be detected and cut into several dynamic range. By this way, the Doppler wind lidar system can detect atmospheric parameters at the meantime, such as speed of aerocraft and temperature of atmosphere around the aerocraft, by analyzing the information of Rayleigh backscattering light. There are three main contribution in this paper: the first is discussing the basic theory of MOADS, calculational method and mathematic model of relative wind velocity between aircraft and wind are put forward.; the second is the parameter optimization of the dual-channel Fabry-Perot interferometer and the structure design of the interferometer; the third is the simulation of the performance and the accuracy of this system. Theory analysis and simulation results show this method is reasonable and practical.

  2. 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.

  3. Influence of GaAs substrate on the transmission performance of epitaxially grown Fabry-Pérot filter

    Institute of Scientific and Technical Information of China (English)

    Wei Wang; Yongqing Huang; Xiaofeng Duan; Qiang Yan; Xiaomin Ren; Shiwei Cai; Jingwei Guo; Hui Huang

    2011-01-01

    The influence of GaAs substrate on the transmission performance of a multi-film Fabry-Perot filter (FPF), fabricated by metalorganic chemical vapor deposition epitaxial growth on GaAs substrate, is investigated using the transfer matrix method. On the basis of the theoretical simulation, we determine that the quality of the resonant transmission peak of this epitaxially grown FPP (BG-FPF) deteriorates through splitting when the substrate is taken into account. Rapid periodic oscillation of peak-transmittivity along with the alteration of substrate thickness is also observed in the simulation results. Finally, a remarkably improved transmission performance of the EG-FPF is obtained by thinning the substrate down to a suitable thickness range through well-controlled grinding and polishing.%Fabry-Pérot filters (FPFs) have been investigated in various microstructural systems for the past few decades[1-4].Along with the development of technologies and techniques such as metalorganic chemical vapor deposition (MOCVD) and molecular beam epitaxy,depositing highquality epitaxial thin films onto different kinds of substrates using various materials has become possible[5-7].

  4. Shift and elimination of microwave Fabry-Perot resonances in a dielectric covered with a thin metal layer

    Science.gov (United States)

    Ragulis, Paulius; Simniškis, Rimantas; Kancleris, Žilvinas

    2015-04-01

    In this paper, we consider a plane electromagnetic wave incident onto a dielectric plate, which has one surface covered with a thin layer of metal. An oblique incident angle was considered for the TE (s polarization in optic) and TM (p polarization) plane waves. The thin metal layer is treated as an infinitesimal thickness. It was characterized by a surface conductivity and accounted for by a tangential magnetic field component step induced by the current flow in the metal layer. Compact expressions, which describe the reflection, transmission and absorption in a dielectric plate covered with a thin layer of metal, have been obtained. It was shown that by choosing the appropriate surface conductivity, the Fabry-Perot transmission resonances can be shifted to the position where the maximum reflection is observed in the case of an uncovered dielectric. On the other hand, the elimination of the Fabry-Perot resonances can be also achieved by choosing a proper metal surface conductivity. Measurements of the reflection from the glass covered with a thin layer of metal have been performed in a wide microwave frequency range (2-12 GHz) revealing a large difference in the measured reflection coefficient from the dielectric and metalized surfaces. The measured results fit well with those calculated by employing analytical expressions obtained in this paper.

  5. Disease in the Society: Infectious Cadavers Result in Collapse of Ant Sub-Colonies

    Science.gov (United States)

    Loreto, Raquel G.; Hughes, David P.

    2016-01-01

    Despite the growing number of experimental studies on mechanisms of social immunity in ant societies, little is known about how social behavior relates to disease progression within the nests of ants. In fact, when empirically studying disease in ant societies, it is common to remove dead ants from experiments to confirm infection by the studied parasite. This unfortunately does not allow disease to progress within the nest as it may be assumed would happen under natural conditions. Therefore, the approach taken so far has resulted in a limited knowledge of diseases dynamics within the nest environment. Here we introduced a single infectious cadaver killed by the fungus Beauveria bassiana into small nests of the ant Camponotus castaneus. We then observed the natural progression of the disease by not removing the corpses of the ants that died following the first entry of the disease. Because some behaviors such as social isolation of sick individuals or the removal of cadavers by nestmates are considered social immune functions and thus adaptations at the colony level that reduce disease spread, we also experimentally confined some sub-colonies to one or two chamber nests to prevent the expression of such behaviors. Based on 51 small nests and survival studies in 1,003 ants we found that a single introduced infectious cadaver was able to transmit within the nest, and social immunity did not prevent the collapse of the small sub-colonies here tested. This was true whether ants did or did not have the option to remove the infectious cadaver. Therefore, we found no evidence that the typically studied social immunity behaviors can reduce disease spread in the conditions here tested. PMID:27529548

  6. Modified Fabry-Perot interferometric method for waveguide loss measurement.

    Science.gov (United States)

    Taebi, Sareh; Khorasaninejad, Mohammadreza; Saini, Simarjeet Singh

    2008-12-10

    An extension to the Fabry-Perot interferometric method is demonstrated to calculate the optical loss and the reflectivity for optical waveguides simultaneously. The method uses an excitation of the waveguide with a broadband amplified spontaneous emission source (a superluminescent diode in our case) and curve fitting to account for the change of input power, thereby simplifying the measurement procedure. The use of a broadband source as opposed to tunable lasers allows for simultaneous measurements over multiple wavelengths and decreased sensitivity to reflections in the cavity. Further, waveguides of different lengths are measured to calculate the optical loss and the reflectivity simultaneously. It is shown that, if the value for reflectivity is assumed, there could be a large error in the measurement of loss especially for short waveguides. Optical loss for ridge waveguides is measured and compared by using a tunable laser as the input source. The method can be used for a generic case where it is suspected that the input power changes during the measurement.

  7. Dielectric Fabry-Perot mirror coatings for infrared astronomy

    Science.gov (United States)

    Trauger, J.

    1984-01-01

    A number of Fabry-Perot (FP) coating designs have been developed specifically for IR astronomy. These have been optimized for uniform reflectance over five contiguous spectral ranges of particular astronomical interest between 1 and 5 microns. Wavelength coverage in individual designs is given by (maximum wavelength/minimum wavelength) greater than 1.4, over which reflective finesse is maintained near 35. Consideration has been made for the peculiar requirements of FP coatings. Visual alignment and testing of the FP has been made convenient by bringing the reflective finesse of the coating at 632.8 nm to the same value as the main IR reflection band. For example, a calcium fluoride FP can be aligned and tested at 632.8-nm He-Ne laser line, with the assurance of a corresponding finesse and spectral resolving power over its IR (3.6-5.1-micron) range. In addition, the FP can be used for IR spectroscopy while being simultaneously monitored and/or actively controlled at the laser wavelength. The potential for the coating itself to degrade the effective surface flatness of the FP through either mechanical stress or thickness nonuniformities is minimized by reducing to a minimum the number and thickness of coating layers. Several of these coatings have been fabricated and are actively in use at a number of observatories.

  8. Fabry-Perot Interferometer for Column CO2

    Science.gov (United States)

    Heaps, William S.; Kawa, Randolph; Bhartia, P. K. (Technical Monitor)

    2002-01-01

    Global atmospheric CO2 measurements are essential to resolving significant discrepancies in our understanding of the global carbon budget and, hence, humankind's role in global climate change. The science measurement requirements for CO2 are extremely demanding (precision approx. 0.3%). No atmospheric chemical species has ever been measured from space with this precision. We are developing a novel application of a Fabry-Perot interferometer to detect spectral absorption of reflected sunlight by CO2 and O2 in the atmosphere. Preliminary design studies indicate that the method will be able to achieve the sensitivity and signal-to-noise detection required to measure column CO2 at the target specification. The objective of this program is to construct a prototype instrument for deployment on an aircraft to test the instrument performance and our ability to retrieve the data in the real atmosphere. To date we have assembled a laboratory bench system to begin testing the optical and electronic components. We are also measuring signal and noise levels in actual sunlight to evaluate component performance.

  9. Demonstration of Fabry-Perot interferometric spectrometry technology

    Science.gov (United States)

    Petersen, T. V.; Makel, D. B.; Thurman, C.

    1993-06-01

    As rocket engine components experience wear or failure, anomalous materials may be entrained in the plume. Historically, visible plume anomalies have preceded many rocket engine failures, some of which have been catastrophic. Development of a small, rugged, high-speed, high resolution Fabry-Perot interferometer (FPI) based spectrometer capable of detecting the spectral signatures of eroding engine components during rocket engine test and/or flight operations is described. An operational plume spectrometer fabricated with miniaturized optics has been successfully tested. An extensive test series was conducted to define the limits of the spectrometer with respect to time-response and resolution. The data collected during testing were correlated with measurements obtained using sensitive ground equipment in order to benchmark the spectrometer's performance against a known device. The FPI demonstrated the reliability required for a flight instrument by functioning satisfactorily at or near the rocket engine test stand environment. Several of the optical components are interchangeable, allowing collection of a greater variety of plume signals. Also, the FPI's high resolution capabilities suggest it is suitable for application to both absorption and emission spectroscopy.

  10. Performance of a dual Fabry-Perot cavity refractometer.

    Science.gov (United States)

    Egan, Patrick F; Stone, Jack A; Hendricks, Jay H; Ricker, Jacob E; Scace, Gregory E; Strouse, Gregory F

    2015-09-01

    We have built and characterized a refractometer that utilizes two Fabry-Perot cavities formed on a dimensionally stable spacer. In the typical mode of operation, one cavity is held at vacuum, and the other cavity is filled with nitrogen gas. The differential change in length between the cavities is measured as the difference in frequency between two helium-neon lasers, one locked to the resonance of each cavity. This differential change in optical length is a measure of the gas refractivity. Using the known values for the molar refractivity and virial coefficients of nitrogen, and accounting for cavity length distortions, the device can be used as a high-resolution, multi-decade pressure sensor. We define a reference value for nitrogen refractivity as n-1=(26485.28±0.3)×10(-8) at p=100.0000  kPa, T=302.9190  K, and λ(vac)=632.9908  nm. We compare pressure determinations via the refractometer and the reference value to a mercury manometer.

  11. Equation of state measurements using single Fabry-Perot velocimeter

    Science.gov (United States)

    Saxena, A. K.; Kaushik, T. C.; Rawool, A. M.; Gupta, Satish C.

    2012-07-01

    Accurate measurement of projectile and free surface velocity of target is a crucial part of any high pressure physics experiments involving hyper velocity impact. Fabry Perot velocimeter (FPV) is a widely accepted technique for single surface velocity measurements. In the present work a possibility of using single FPV for two surface velocity measurements is experimentally explored. The laser light is launched in such a way that it illuminates both the surfaces under study and reflected light coming from the flyer as well as from the target is used to generate interference fringes. Therefore by recording fringe displacements due to Doppler shift in reflected light corresponding to movement of both the surfaces at different time instants, velocity profile of both target and projectile can be computed. This technique has been utilized for equation of state measurements of polyurethane based retro-reflective tape at 12 GPa and aluminum at 15 GPa. Measured peak particle velocities at the target-glass interface have been found in good agreement with the reported equation of state data.

  12. Partially responsive celiac disease resulting from small intestinal bacterial overgrowth and lactose intolerance

    Directory of Open Access Journals (Sweden)

    Misra Asha

    2004-05-01

    Full Text Available Abstract Background Celiac disease is a common cause of chronic diarrhea and malabsorption syndrome all over the world. Though it was considered uncommon in India in past, it is being described frequently recently. Some patients with celiac disease do not improve despite gluten free diet (GFD. A study described 15 cases of celiac disease unresponsive to GFD in whom small intestinal bacterial overgrowth (SIBO or lactose intolerance was the cause for unresponsiveness. Case presentation During a three-year period, 12 adult patients with celiac disease were seen in the Luminal Gastroenterology Clinic in a tertiary referral center in northern India. Two of these 12 patients (16.6%, who did not fully respond to GFD initially, are presented here. Unresponsiveness resulted from SIBO in one and lactose intolerance in the other. The former patient responded to antibiotics and the latter to lactose withdrawal in addition to standard GFD. Conclusion In patients with celiac disease partially responsive or unresponsive to GFD, SIBO and lactose intolerance should be suspected; appropriate investigations and treatment for these may result in complete recovery.

  13. Fabry-Perot干涉腔型光纤声发射传感器%Fiber-optic acoustic emission sensors with dual Fabry-Perot interferometric cavities

    Institute of Scientific and Technical Information of China (English)

    赵江海; 章小建

    2015-01-01

    设计了一种新型的双Fabry-Perot腔光纤传感器用于材料损伤引起的声发射信号检测.基于低细度Fabry-Perot腔多光束干涉原理,建立了光纤Fabry-Perot传感器检测声发射信号的数学模型.分析双Fabry-Perot腔正交点稳定工作机制,设计并制作了具有双Fabry-Perot腔结构的光纤声发射传感器来保持传感器正交点的稳定性.通过模拟AE信号检测与热应力干扰实验对设计的传感器进行了实验验证.实验一通过冲击振动与折断铅笔芯产生两类模拟声发射信号,使用商用的压电传感器和光纤传感器进行对比实验,结果表明光纤传感器能够成功检测到两类模拟声发射信号,灵敏度为12.9 nm,带宽达到30 kHz.实验二对传感器进行工作点稳定测试,结果表明双F-P腔的控制机制能够保证传感器工作在正交点,解决了传感器输出信号衰减的问题.

  14. Is Pesticide Use Related to Parkinson Disease? Some Clues to Heterogeneity in Study Results

    NARCIS (Netherlands)

    van der Mark, Marianne; Brouwer, Maartje; Kromhout, Hans; Nijssen, Peter; Huss, Anke; Vermeulen, Roel

    2012-01-01

    BACKGROUND: Previous systematic reviews have indicated that pesticide exposure is possibly associated with Parkinson disease (PD). However, considerable heterogeneity has been observed in study results. OBJECTIVE: We aimed at providing an update of the literature published on PD and exposure to pest

  15. First Light from Triple-Etalon Fabry-Perot Interferometer for Atmospheric OI Airglow (6300 A)

    Science.gov (United States)

    Watchorn, S.; Noto, J.; Pedersen, T.; Betremieux, Y.; Migliozzi, M.; Kerr, R. B.

    2006-05-01

    Scientific Solutions, Inc. (SSI) has developed a triple-etalon Fabry-Perot interferometer (FPI) to observe neutral winds in the ionosphere by measuring neutral oxygen (O I) emission at 630.0 nm during the day. This instrument is to be deployed in the SSI airglow building at the Cerro Tololo observatory (30.17S 70.81W) in Chile, in support of the Comm/Nav Outage Forecast System (C/NOFS) project. Post-deployment observation will be made in conjunction with two other Clemson University Fabry-Perots in Peru, creating a longitudinal chain of interferometers for thermospheric observations. These instruments will make autonomous day and night observations of thermospheric dynamics. Instruments of this type can be constructed for a global chain of autonomous airglow observatories. The FPI presented in this talk consists of three independently pressure-controlled etalons, fed collimated light by a front optical train headed by an all-sky lens with a 160-degree field of view. It can be controlled remotely via a web-based service which allows any internet-connected computer to mimic the control computer at the instrument site. In fall 2005, the SSI system was first assembled at the Millstone Hill Observatory in Westford, Massachusetts, and made day and evening observations. It was then moved to the High-frequency Active Auroral Research Project (HAARP) site in Gakona, Alaska, to participate in joint optical/ionospheric heating campaigns. Additionally, natural airglow observations were made, both locally and remotely via the internet from Massachusetts. The Millstone and HAARP observations with two etalons yielded strong 630-nm atmospheric Fraunhofer absorption lines, with some suggestion of the Ring effect. By modeling the atmospheric absorption line as the constant times the corresponding solar absorption -- itself modeled as a Gaussian plus a polynomial -- the absorption feature is subtracted, leaving only the emission feature. Software ring-summing tools developed at the

  16. Effects of residual coronary artery disease on results of coronary artery bypass grafting.

    Science.gov (United States)

    Iskandrian, A S; Hakki, A H; Nestico, P F; DePace, N L; Goel, I P; Kane, S

    1984-10-01

    To assess the effects of residual coronary artery disease (non-revascularized coronary vessels) after coronary artery bypass grafting on symptoms and exercise left ventricular function, we categorized 77 patients into 3 groups according to the extent of residual coronary artery disease: group I (n = 17) had no residual coronary artery disease (residual score = 0); group II (n = 30) had light residual coronary artery disease (score of 1 to 9, mean 4.7); and group III (n = 30) had moderate residual coronary artery disease (score greater than or equal to 10, mean 23). Sixty patients were asymptomatic after coronary artery bypass grafting (14 in group I, 24 in group II, and 22 in group III), but the remaining patients had occasional angina pectoris. The resting left ventricular ejection fraction was significantly higher in group I than in the remaining 2 groups (56 +/- 18% in group I, 47 +/- 19% in group II, and 43 +/- 16% in group III, P less than 0.05). The exercise left ventricular ejection fraction was also significantly higher in group I (61 +/- 16% in group I, 51 +/- 18% in group II and 45 +/- 18% in group III, P less than 0.01). The ejection fraction response to exercise was abnormal in 5 patients in group I, 15 patients in group II, and 19 patients in group III. Thus, coronary artery bypass grafting results in symptomatic improvement, even in patients with residual coronary artery disease. The presence of residual coronary artery disease, however, may be a determinant of exercise left ventricular function in these patients.

  17. Validation and results of a questionnaire for functional bowel disease in out-patients

    Directory of Open Access Journals (Sweden)

    Skordilis Panagiotis

    2002-05-01

    Full Text Available Abstract Background The aim was to evaluate and validate a bowel disease questionnaire in patients attending an out-patient gastroenterology clinic in Greece. Methods This was a prospective study. Diagnosis was based on detailed clinical and laboratory evaluation. The questionnaire was tested on a pilot group of patients. Interviewer-administration technique was used. One-hundred-and-forty consecutive patients attending the out-patient clinic for the first time and fifty healthy controls selected randomly participated in the study. Reliability (kappa statistics and validity of the questionnaire were tested. We used logistic regression models and binary recursive partitioning for assessing distinguishing ability among irritable bowel syndrome (IBS, functional dyspepsia and organic disease patients. Results Mean time for questionnaire completion was 18 min. In test-retest procedure a good agreement was obtained (kappa statistics 0.82. There were 55 patients diagnosed as having IBS, 18 with functional dyspepsia (Rome I criteria, 38 with organic disease. Location of pain was a significant distinguishing factor, patients with functional dyspepsia having no lower abdominal pain (p Conclusions This questionnaire for functional bowel disease is a valid and reliable instrument that can distinguish satisfactorily between organic and functional disease in an out-patient setting.

  18. Pregnancy is not a risk factor for gallstone disease: Results of a randomly selected population sample

    Institute of Scientific and Technical Information of China (English)

    Thomas Walcher; Bernhard Otto Boehm; Wolfgang Kratzer; Mark Martin Haenle; Martina Kron; Birgit Hay; Richard Andrew Mason; Alexa Friederike Alice von Schmiesing; Armin Imhof; Wolfgang Koenig; Peter Kern

    2005-01-01

    AIM: To investigate the prevalence, risk factors, and selection of the study population for cholecystolithiasis in an urban population in Germany, in relation to our own findings and to the results in the international literature.METHODS: A total of 2 147 persons (1 111 females,age 42.8±12.7 years; 1 036 males, age 42.3±13.1 years)participating in an investigation on the prevalence of Echinococcus multilocularis were studied for risk factors and prevalence of gallbladder stone disease.Risk factors were assessed by means of a standardized interview and calculation of body mass index (BMI). A diagnostic ultrasound examination of the gallbladder was performed. Data were analyzed by multiple logistic regression, using the SAS statistical software package.RESULTS: Gallbladder stones were detected in 171study participants (8.0%, n = 2 147). Risk factors for the development of gallbladder stone disease included age, sex, BMI, and positive family history. In a separate analysis of female study participants, pregnancy (yes/no)and number of pregnancies did not exert any influence.CONCLUSION: Findings of the present study confirm that age, female sex, BMI, and positive family history are risk factors for the development of gallbladder stone disease. Pregnancy and the number of pregnancies,however, could not be shown to be risk factors. There seem to be no differences in the respective prevalence for gallbladder stone disease in urban and rural populations.

  19. Hidradenitis suppurativa and inflammatory bowel disease: are they associated? Results of a pilot study.

    Science.gov (United States)

    van der Zee, H H; van der Woude, C J; Florencia, E F; Prens, E P

    2010-01-01

    Background The co-occurrence of hidradenitis suppurativa (HS) and Crohn disease (CD) published in a few case reports resulted in the wide acceptance of an association between these two diseases. However, the combined prevalence of these diseases is currently unknown; furthermore, it is unknown whether this co-occurrence also applies for ulcerative colitis (UC). Objectives To estimate the prevalence of HS in patients with inflammatory bowel disease (IBD) living in the Southwest of the Netherlands. Methods During an IBD patient information meeting, randomly, 158 patients with IBD were interviewed about recurrent painful boils in the axillae and/or groin and were shown illustrative clinical pictures of the appearance of HS. Results Of the 158 patients interviewed, 102 (65%) had CD and 56 (35%) had UC. Twenty-five people (16%) responded that they had had or still experienced painful boils in the axillae and/or groin, of whom 17 were patients with CD (17%) and eight had UC (14%). Conclusions This pilot study shows for the first time that HS occurs in patients with CD or UC. More prospective studies are warranted to establish the association between HS and IBD and its underlying pathogenesis.

  20. Controversial results of therapy with mesenchymal stem cells in the acute phase of canine distemper disease.

    Science.gov (United States)

    Pinheiro, A O; Cardoso, M T; Vidane, A S; Casals, J B; Passarelli, D; Alencar, A L F; Sousa, R L M; Fantinato-Neto, P; Oliveira, V C; Lara, V M; Ambrósio, C E

    2016-05-23

    Distemper disease is an infectious disease reported in several species of domestic and wild carnivores. The high mortality rate of animals infected with canine distemper virus (CDV) treated with currently available therapies has driven the study of new efficacious treatments. Mesenchymal stem cell (MSC)-based therapy is a promising therapeutic option for many degenerative, hereditary, and inflammatory diseases. Therefore, the aim of this study was to characterize stem cells derived from the canine fetal olfactory epithelium and to assess the systemic response of animals infected with CDV to symptomatic therapy and treatment with MSCs. Eight domestic mongrel dogs (N = 8) were divided into two groups: support group (SG) (N = 5) and support group + cell therapy (SGCT) (N = 3), which were monitored over 15 days. Blood samples were collected on days 0, 6, 9, 12, and 15 to assess blood count and serum biochemistry (urea, creatinine, alanine transferase, alkaline phosphatase, gamma-glutamyl transferase, total protein, albumin, and globulin), and urine samples were obtained on days 0 and 15 for urinary evaluation (urine I). The results showed a high mortality rate (SG = 4 and SGCT = 2), providing inadequate data on the clinical course of CDV infection. MSC therapy resulted in no significant improvement when administered during the acute phase of canine distemper disease, and a prevalence of animals with high mortality rate was found in both groups due to the severity of symptoms.

  1. Development and characterization of a new Parkinson disease model resulting from impaired autophagy

    Science.gov (United States)

    Ahmed, Ishrat; Liang, Yideng; Schools, Sabitha; Dawson, Valina L.; Dawson, Ted M.; Savitt, Joseph M

    2012-01-01

    Parkinson’s disease (PD) is a progressive neurodegenerative disease caused by the interaction of genetic and environmental factors. However, the etiology of PD remains largely unknown. Macroautophagy is known to play an essential role in the degradation of abnormal proteins and organelles. Furthermore, the loss of autophagy-related (Atg) genes results in neurodegeneration and abnormal protein accumulation. Since these are also pathologic features of Parkinson disease, the conditional impairment of autophagy may lead to improved animal models for the study of PD. Using transgenic mice expressing Cre recombinase under the control of either the dopamine transporter or the engrailed-1 promoters, we generated mice with the conditional deletion of Atg7 in the dopamine neurons of the substantia nigra pars compacta, other regions of the midbrain, and also the hindbrain. This conditional impairment of autophagy results in the age-related loss of dopaminergic neurons and corresponding loss of striatal dopamine, the accumulation of low molecular weight α-synuclein, and the presence of ubiquitinated protein aggregates, recapitulating many of the pathologic features of PD. These conditional knockout animals provide insight into the process of autophagy in Parkinson disease pathology. PMID:23152632

  2. An optical fiber Fabry-Perot flow measurement technology based on partial bend structure

    Science.gov (United States)

    Yang, Huijia; Jiang, Junfeng; Zhang, Xuezhi; Pan, Yuheng; Zhu, Wanshan; Zhou, Xiang; Liu, Tiegen

    2016-08-01

    An optical fiber Fabry-Perot (F-P) flow measurement technology is presented, which is based on partial bend structure. A 90° partial bend structure is designed to achieve the non-probe flow measurement with a pressure difference. The fluid simulation results of partial bend structure show that the error of the pressure difference is below 0.05 kPa during steady flow. The optical fiber F-P sensor mounted on the elbow with pressure test accuracy of 1% full scale is used to measure the fluid flow. Flow test results show that when the flow varies from 1 m3/h to 6.5 m3/h at ambient temperature of 25 °C, the response time is 1 s and the flow test accuracy is 4.5% of the F-P flow test system, proving that the F-P flow test method based on partial bend structure can be used in fluid flow measurement.

  3. Fabry-Pérot-Michelson interferometer using higher-order Laguerre-Gauss modes

    Science.gov (United States)

    Gatto, A.; Tacca, M.; Kéfélian, F.; Buy, C.; Barsuglia, M.

    2014-12-01

    One of the main noise sources for future interferometric gravitational wave detectors will be the thermal fluctuations of the mirrors used as test masses. To reduce the effect of this noise without changing the mirror material, size and temperature, the use of Laguerre-Gauss (LG) modes has been proposed. In this work we report the first experimental results obtained with a Fabry-Pérot Michelson interferometer operated with Laguerre-Gauss LG33 as input mode and developed as a table-top prototype to test alignment and matching procedures, possible control issues and optical performances of the LG33 . Among the results obtained, we have demonstrated the degradation of the interferometer contrast of the LG33 with respect to the Gaussian beam, predicted by several previous simulations works and due to the degeneracy of LG modes having the same order. In addition, the observed contrast degradation for the LG33 as well as the interferometer optical properties have been explained using a numerical simulation.

  4. 2D Solar Spectroscopy with a Triple Fabry-Perot Filtergraph

    Science.gov (United States)

    Bellot Rubio, Luis R.; Tritschler, Alexandra; Schlichenmaier, Rolf

    TESOS is a tunable narrow-band filter based on three Fabry-Perot etalons operated in a telecentric configuration. Installed at the German Vacuum Tower Telescope (VTT) of Teide Observatory (Spain) it is used regularly for 2D spectroscopy of the solar atmosphere. Its spectral resolution of 250000 is similar to that of grating spectrographs. In the high resolution mode the field of view of TESOS is 42 arcsec in diameter and the image scale is 0.09 arcsec/pixel. Due to the high quantum efficiency of the detector above 500 nm exposure times of a few tens of msec can be used. As a result TESOS is able to measure the intensity profiles of a given spectral line across the field of view in less than 40 sec (assuming 100 wavelength positions). Recently TESOS has been combined with KAOS the adaptive optics system of the VTT to improve the spatial resolution of the observations up to 0.4 arcsec. Here we present the first science results of TESOS+KAOS based on observations of a sunspot penumbra. Maps of various spectroscopic parameters are computed and the line asymmetries induced by the Evershed flows are investigated by means of a bisector analysis of the FeI line at 557.6 nm.

  5. Tunable MOEMS Fabry-Perot interferometer for miniaturized spectral sensing in near-infrared

    Science.gov (United States)

    Rissanen, A.; Mannila, R.; Tuohiniemi, M.; Akujärvi, A.; Antila, J.

    2014-03-01

    This paper presents a novel MOEMS Fabry-Perot interferometer (FPI) process platform for the range of 800 - 1050 nm. Simulation results including design and optimization of device properties in terms of transmission peak width, tuning range and electrical properties are discussed. Process flow for the device fabrication is presented, with overall process integration and backend dicing steps resulting in successful fabrication yield. The mirrors of the FPI consist of LPCVD (low-pressure chemical vapor) deposited polySi-SiN λ/4-thin film Bragg reflectors, with the air gap formed by sacrificial SiO2 etching in HF vapor. Silicon substrate below the optical aperture is removed by inductively coupled plasma (ICP) etching to ensure transmission in the visible - near infra-red (NIR), which is below silicon transmission range. The characterized optical properties of the chips are compared to the simulated values. Achieved optical aperture diameter size enables utilization of the chips in both imaging as well as single-point spectral sensors.

  6. Two-dimensional photonic-crystal-based Fabry-Perot etalon.

    Science.gov (United States)

    Ho, Chong Pei; Pitchappa, Prakash; Kropelnicki, Piotr; Wang, Jian; Cai, Hong; Gu, Yuandong; Lee, Chengkuo

    2015-06-15

    We demonstrate the design, fabrication, and characterization of a polycrystalline-silicon-based photonic crystal Fabry-Perot etalon, which is aimed to work in the mid-infrared wavelengths. The highly reflective mirrors required in a Fabry-Perot etalon are realized by freestanding polycrystalline-silicon-based photonic crystal membranes with etched circular air holes. A peak reflection of 96.4% is observed at 3.60 μm. We propose a monolithic CMOS-compatible fabrication process to configure two such photonic crystal mirrors to be in parallel to form a Fabry-Perot etalon; a filtered transmission centered at 3.51 μm is observed. The quality factor measured is around 300, which is significantly higher than in existing works. This creates the possibility of using such devices for high-resolution applications such as gas sensing and hyperspectral imaging.

  7. Enhanced random lasing in ZnO nanocombs assisted by Fabry-Perot resonance.

    Science.gov (United States)

    Chen, Yungting; Chen, Yangfang

    2011-04-25

    The ultraviolet random lasing behavior of an ensemble of ZnO nanocombs has been demonstrated. It is found that the Fabry-Perot resonance induced by nanocomb geometry can greatly enhance random lasing action with a low threshold condition. Besides, the emission spectra exhibit few sharp lasing peaks with a full width at half maximum (FWHM) of less than 0.3 nm and a narrow background emission with a FWHM of about 5 nm. Cathodoluminescence mapping images are utilized to analyze the Fabry-Perot resonance phenomenon. The resonant effect on the lasing system is further confirmed by nanocombs with different resonant cavity lengths. The unique lasing behavior induced by the simultaneous occurrence of Fabry-Perot resonance and random laser action shown here may open up a new possibility for the creation of highly efficient light emitting devices.

  8. Distributed torsion sensor based on cascaded coaxial cable Fabry-Perot interferometers

    Science.gov (United States)

    Cheng, Baokai; Zhu, Wenge; Hua, Liwei; Liu, Jie; Li, Yurong; Nygaard, Runar; Xiao, Hai

    2016-07-01

    Cascaded coaxial cable Fabry-Perot interferometers (FPI) are studied and demonstrated for distributed torsion measurement. Multiple weak reflectors are implemented on a coaxial cable so that any two consecutive reflectors can form a Fabry-Perot cavity. By fixing the cable sensor in a helical form on a shaft, the distributed torsion of the shaft can be measured by the cascaded Fabry-Perot cavities. A test on a single section shows that the sensor has a linear response with a sensitivity of 1.834 MHz (rad/m)-1 in the range of twisted rate from 0 to 8.726 rad m-1. The distributed torsion sensing capability is useful in drilling process monitoring, structure health monitoring and machine failure detection.

  9. High Finesse Fiber Fabry-Perot Cavities: Stabilization and Mode Matching Analysis

    CERN Document Server

    Gallego, Jose; Alavi, Seyed Khalil; Alt, Wolfgang; Martinez-Dorantes, Miguel; Meschede, Dieter; Ratschbacher, Lothar

    2015-01-01

    Fiber Fabry-Perot cavities, formed by micro-machined mirrors on the end-facets of optical fibers, are used in an increasing number of technical and scientific applications, where they typically require precise stabilization of their optical resonances. Here, we study two different approaches to construct fiber Fabry-Perot resonators and stabilize their length for experiments in cavity quantum electrodynamics with neutral atoms. A piezo-mechanically actuated cavity with feedback based on the Pound-Drever-Hall locking technique is compared to a novel rigid cavity design that makes use of the high passive stability of a monolithic cavity spacer and employs thermal self-locking and external temperature tuning. Furthermore, we present a general analysis of the mode matching problem in fiber Fabry-Perot cavities, which explains the asymmetry in their reflective line shapes and has important implications for the optimal alignment of the fiber resonators. Finally, we discuss the issue of fiber-generated background ph...

  10. HELICOBACTER PYLORI PREVALENCE IN PATIENTS WITH CELIAC DISEASE: results from a cross-sectional study

    Directory of Open Access Journals (Sweden)

    Juan LASA

    2015-06-01

    Full Text Available Background Some previously published studies have suggested an inverse relationship between celiac disease and Helicobacter pylori, raising the possibility of the protective role Helicobacter pylori could have against celiac disease development. Nevertheless, this association is inconclusive. Objectives To determine the prevalence of Helicobacter pylori infection in celiac subjects. Methods Between January 2013 and June 2014, patients over 18 years old undergoing upper endoscopy who required both gastric and duodenal biopsies were included for analysis. Enrolled subjects were divided in two groups: those with a diagnosis of celiac disease and those without a celiac disease diagnosis. Helicobacter pylori infection prevalence was compared between groups. Among celiac patients, endoscopic markers of villous atrophy as well as histological damage severity were compared between those with and without Helicobacter pylori infection. Results Overall, 312 patients were enrolled. Seventy two of them had a diagnosis of celiac disease. Helicobacter pylori infection prevalence among celiac disease patients was 12.5%, compared to 30% in non-celiac patients [OR=0.33 (0.15-0.71]. There was not a significant difference in terms of the severity of villous atrophy in patients with Helicobacter pylori infection compared to those without it. There was a slight increase in the prevalence of endoscopic markers in those Helicobacter pylori-negative celiac subjects. Conclusion Helicobacter pylori infection seems to be less frequent in celiac patients; among those celiac subjects with concomitant Helicobacter pylori infection, histological damage degree and presence of endoscopic markers suggesting villous atrophy seem to be similar to those without Helicobacter pylori infection.

  11. Early and midterm results of kissing stent technique in the management of aortoiliac obstructive disease.

    Science.gov (United States)

    Pulli, Raffaele; Dorigo, Walter; Fargion, Aaron; Angiletta, Domenico; Azas, Leonidas; Pratesi, Giovanni; Alessi Innocenti, Alessandro; Pratesi, Carlo

    2015-04-01

    To retrospectively analyze the early and the midterm results of endovascular management of aortoiliac obstructive disease with the kissing stent technique. From January 2005 to September 2012, 229 consecutive endovascular interventions for aortoiliac obstructive disease were performed; data from all the interventions were prospectively collected in a dedicated database. In 41 patients, the kissing stent technique at the level of aortic bifurcation was performed (group 1), whereas in the remaining 188 it was not (group 2). Perioperative results were compared with chi-squared test. Follow-up results were analyzed with Kaplan-Meier curves and compared with log-rank test. Trans-Atlantic Inter-Society Consensus II C and D lesions were present in 66% of patients in group 1 and in 28.5% in group 2 (P kissing stent technique provided satisfactory results in patients with obstructive aortoiliac diseases, without an increase in immediate and midterm complications, representing an effective solution in complex anatomies. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. 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.

  13. Need for surveillance of concomitant peripheral artery disease in patients with coronary disease: results of the AGATHA survey in Malaysia

    Institute of Scientific and Technical Information of China (English)

    Kui Hian Sim; Kok Han Chee; Inderjit Singh; Choon Kiat Ang; Houng Bang Liew; Kim Heung Tan; Omar Ismail

    2007-01-01

    Background For patients with cardiovascular disease (CVD), co-existence of peripheral artery disease (PAD) predicts increased mortality, and such patients are also more likely to benefit from aggressive therapy. Surveillance of PAD is often neglected at health clinics. Our aim is to highlight the importance and ease of surveillance of PAD in patients with CVD. Objective To determine the prevalence of symptomatic and asymptomatic PAD in a Malaysian patient population with documented CVD. Methods and Results A total of 393 subjects with established CVD were recruited from three centres (85 women and 308 men), as part of a larger international (AGATHA) survey. PAD, determined by presence of claudicant symptoms on interview and/or abnormal ankle-brachial index (ABI)score of less than 0.9, was present in 21.4% of patients - of whom 64% were asymptomatic. Abnormal ABI is associated with higher systolic blood pressure and number of arterial beds affected. Conclusions Concomitant PAD is prevalent among CVD patients in Malaysia. ABI screening is simple and yields a high proportion of patients with extensive atherosclerosis who may require more aggressive atherosclerotic risk management.

  14. High-precision, accurate optical frequency reference using a Fabry-Perót diode laser.

    Science.gov (United States)

    Chang, Hongrok; Myneni, Krishna; Smith, David D; Liaghati-Mobarhan, Hassan R

    2017-06-01

    We show that the optical output of a temperature and current-tuned Fabry-Perót diode laser system, with no external optical feedback and in which the frequency is locked to Doppler-free hyperfine resonances of the (87)Rb D2 line, can achieve high frequency stability and accuracy. Experimental results are presented for the spectral linewidth, frequency stability, and frequency accuracy of the source. Although our optical source is limited by a short-term spectral linewidth greater than 2 MHz, beat signal measurements from two such sources demonstrate a frequency stability of 1.1 kHz, or minimum Allan deviation of 4×10(-12), at an integration time τ=15 s and with a frequency accuracy of 60 kHz at τ=300 s. We demonstrate the use of the optical source for the precision measurement of hyperfine level frequency spacings in the 5P3∕2 excited state of (87)Rb and provide an accurate frequency scale for optical spectroscopy.

  15. Analytical Modelling of a Refractive Index Sensor Based on an Intrinsic Micro Fabry-Perot Interferometer

    Directory of Open Access Journals (Sweden)

    Everardo Vargas-Rodriguez

    2015-10-01

    Full Text Available In this work a refractive index sensor based on a combination of the non-dispersive sensing (NDS and the Tunable Laser Spectroscopy (TLS principles is presented. Here, in order to have one reference and one measurement channel a single-beam dual-path configuration is used for implementing the NDS principle. These channels are monitored with a couple of identical optical detectors which are correlated to calculate the overall sensor response, called here the depth of modulation. It is shown that this is useful to minimize drifting errors due to source power variations. Furthermore, a comprehensive analysis of a refractive index sensing setup, based on an intrinsic micro Fabry-Perot Interferometer (FPI is described. Here, the changes over the FPI pattern as the exit refractive index is varied are analytically modelled by using the characteristic matrix method. Additionally, our simulated results are supported by experimental measurements which are also provided. Finally it is shown that by using this principle a simple refractive index sensor with a resolution in the order of 2.15 × 10−4 RIU can be implemented by using a couple of standard and low cost photodetectors.

  16. Fabry-Perot Microcavity Modes in Single GaP/GaNP Core/Shell Nanowires.

    Science.gov (United States)

    Dobrovolsky, Alexander; Stehr, Jan E; Sukrittanon, Supanee; Kuang, Yanjin; Tu, Charles W; Chen, Weimin M; Buyanova, Irina A

    2015-12-16

    Semiconductor nanowires (NWs) are attracting increasing interest as nanobuilding blocks for optoelectronics and photonics. A novel material system that is highly suitable for these applications are GaNP NWs. In this article, we show that individual GaP/GaNP core/shell nanowires (NWs) grown by molecular beam epitaxy on Si substrates can act as Fabry-Perot (FP) microcavities. This conclusion is based on results of microphotoluminescence (μ-PL) measurements performed on individual NWs, which reveal periodic undulations of the PL intensity that follow an expected pattern of FP cavity modes. The cavity is concluded to be formed along the NW axis with the end facets acting as reflecting mirrors. The formation of the FP modes is shown to be facilitated by an increasing index contrast with the surrounding media. Spectral dependence of the group refractive index is also determined for the studied NWs. The observation of the FP microcavity modes in the GaP/GaNP core/shell NWs can be considered as a first step toward achieving lasing in this quasidirect bandgap semiconductor in the NW geometry.

  17. Dynamic interrogator for elastic wave sensing using Fabry Perot filters based on fiber Bragg gratings.

    Science.gov (United States)

    Harish, Achar V; Varghese, Bibin; Rao, Babu; Balasubramaniam, Krishnan; Srinivasan, Balaji

    2015-07-01

    Use of in-fiber Fabry-Perot (FP) filters based on fiber Bragg gratings as both sensor as well as an interrogator for enhancing the detection limit of elastic wave sensing is investigated in this paper. The sensitivity of such a demodulation scheme depends on the spectral discrimination of the sensor and interrogator gratings. Simulations have shown that the use of in-fiber FP filters with high finesse provide better performance in terms of sensitivity compared to the demodulation using fiber Bragg gratings. Based on these results, a dynamic interrogator capable of sensing acoustic waves with amplitude of less than 1 micro-strain over frequencies of 10 kHz to several 100 kHz has been implemented. Frequency response of the fiber Bragg gratings in the given experimental setup has been compared to that of the conventional piezo sensors demonstrating that fiber Bragg gratings can be used over a relatively broad frequency range. Dynamic interrogator has been packaged in a compact box without any degradation in its performance.

  18. Analytical modelling of a refractive index sensor based on an intrinsic micro Fabry-Perot interferometer.

    Science.gov (United States)

    Vargas-Rodriguez, Everardo; Guzman-Chavez, Ana D; Cano-Contreras, Martin; Gallegos-Arellano, Eloisa; Jauregui-Vazquez, Daniel; Hernández-García, Juan C; Estudillo-Ayala, Julian M; Rojas-Laguna, Roberto

    2015-10-15

    In this work a refractive index sensor based on a combination of the non-dispersive sensing (NDS) and the Tunable Laser Spectroscopy (TLS) principles is presented. Here, in order to have one reference and one measurement channel a single-beam dual-path configuration is used for implementing the NDS principle. These channels are monitored with a couple of identical optical detectors which are correlated to calculate the overall sensor response, called here the depth of modulation. It is shown that this is useful to minimize drifting errors due to source power variations. Furthermore, a comprehensive analysis of a refractive index sensing setup, based on an intrinsic micro Fabry-Perot Interferometer (FPI) is described. Here, the changes over the FPI pattern as the exit refractive index is varied are analytically modelled by using the characteristic matrix method. Additionally, our simulated results are supported by experimental measurements which are also provided. Finally it is shown that by using this principle a simple refractive index sensor with a resolution in the order of 2.15 × 10(-4) RIU can be implemented by using a couple of standard and low cost photodetectors.

  19. Measurement of thermal expansion coefficient of graphene diaphragm using optical fiber Fabry-Perot interference

    Science.gov (United States)

    Li, Cheng; Liu, Qianwen; Peng, Xiaobin; Fan, Shangchun

    2016-07-01

    Application of the Fabry-Perot (FP) interference method for determining the coefficient of thermal expansion (CTE) of a graphene diaphragm is investigated in this paper. A miniature extrinsic FP interferometric (EFPI) sensor was fabricated by using an approximate 8-layer graphene diaphragm. The extremely thin diaphragm was transferred onto the endface of a ferrule with an inner diameter of 125 μm, and van der Waals interactions between the graphene diaphragm and its substrate created a low finesse FP interferometer with a cavity length of 36.13 μm. Double reference FP cavities using two cleaved optical fibers as reflectors were also constructed to differentially cancel the thermal expansion effects of the trapped gas and adhesive material. A temperature test demonstrated an approximate cavity length change of 166.1 nm °C-1 caused by film thermal expansion in the range of 20-60 °C. Then along with the established thermal deformation model of the suspended circular diaphragm, the calculated CTE ranging from  -9.98  ×  10-6 K-1 to  -2.09  ×  10-6 K-1 conformed well to the previously measured results. The proposed method would be applicable in other types of elastic materials as the sensitive diaphragm of an EFPI sensor over a wide temperature range.

  20. High quality factor Er-doped Fabry-Perot microcavities by sol-gel processing

    Energy Technology Data Exchange (ETDEWEB)

    Li Yigang; Fortes, Luis M; Almeida, Rui M [Departamento de Engenharia de Materiais/ICEMS, Instituto Superior Tecnico/TULisbon, Av. Rovisco Pais, 1049-001 Lisboa (Portugal); Chiappini, Andrea; Ferrari, Maurizio, E-mail: yigang.li@ist.utl.p, E-mail: rui.almeida@ist.utl.p [CNR-IFN, Istituto di Fotonica e Nanotecnologie, CSMFO Lab., Via alla Cascata 56/C, Povo, 38123 Trento (Italy)

    2009-10-21

    An optimized sol-gel process was developed to fabricate 1D photonic bandgap structures. Several erbium-doped Fabry-Perot microcavities were prepared and characterized. The thickest sample contained two Bragg mirrors, each having 12 distributed Bragg reflector periods of alternating silicate glass and titania layers. The total thickness of this sample reached {approx}12 {mu}m. The Er{sup 3+} photoluminescence spectra at 1.5 {mu}m were measured for the microcavities. A quality factor of 250 and an Er{sup 3+} photoluminescence enhancement of 96 times at 1.5 {mu}m have been reached. The sol-gel processing details, the crystallization of the titania films and the refractive index of the deposited materials are discussed in detail. The simulated optical spectra of the microcavities were found to agree well with the actually measured curves. These results demonstrate that the present sol-gel processing technique is of potential interest for low cost fabrication of 1D photonic bandgap devices.

  1. Microfluidic flowmeter based on micro "hot-wire" sandwiched Fabry-Perot interferometer.

    Science.gov (United States)

    Li, Ying; Yan, Guofeng; Zhang, Liang; He, Sailing

    2015-04-06

    We present a compact microfluidic flowmeter based on Fabry-Perot interferometer (FPI). The FPI was composed by a pair of fiber Bragg grating reflectors and a micro Co(2+)-doped optical fiber cavity, acting as a "hot-wire" sensor. Microfluidic channels made from commercial silica capillaries were integrated with the FPIs on a chip to realize flow-rate sensing system. By utilizing a tunable pump laser with wavelength of 1480 nm, the proposed flowmeter was experimentally demonstrated. The flow rate of the liquid sample is determined by the induced resonance wavelength shift of the FPI. The effect of the pump power, microfluidic channel scale and temperature on the performance of our flowmeter was investigated. The dynamic response was also measured under different flow-rate conditions. The experimental results achieve a sensitivity of 70 pm/(μL/s), a dynamic range up to 1.1 μL/s and response time in the level of seconds, with a spatial resolution ~200 μm. Such good performance renders the sensor a promising supplementary component in microfluidic biochemical sensing system. Furthermore, simulation modal was built up to analyze the heat distribution of the "hot-wire" cavity and optimize the FPI structure as well.

  2. Extrinsic Fabry-Perot interferometric sensor using a polarization-switched phase interrogator

    Science.gov (United States)

    Xia, Ji; Wang, Fuyin; Yang, Yangyang; Xiong, Shuidong; Luo, Hong; Wei, Wenjian

    2016-10-01

    In this paper, a phase variation tracking method for the extrinsic Fabry-Perot interferometric (EFPI) voice sensing system is designed and experimentally demonstrated through a polarization-switched unit based on the combination of polarization-maintaining fiber Bragg grating (PMFBG). The measurements at two operation wavelengths are firstly achieved in one total-optical path, which eliminates the imbalance of optical power from the external disturbances, optical source fluctuation, different detecting response of photoelectric detector and different background noise. Two operation wavelengths reflected from a PMFBG for interference phase tracking are switched via an electro-optic modulator at a high switching speed of 10 kHz. Besides, an ellipse fitting-differential cross multiplication (EF-DCM) algorithm is proposed and illustrated for interrogating the variation of EFPI cavity gap length of the EFPI voice sensor effectively. Preliminary experimental results have proven that the polarization-switched system based on the EF-DCM algorithm could find potential applications in the fields of marine acoustic, medical science measurements, etc.

  3. Fabry-Perot interferometer based on etched side-hole fiber for microfluidic refractive index sensing

    Science.gov (United States)

    Wu, Shengnan; Yan, Guofeng; Zhou, Bin; He, Sailing

    2015-08-01

    In this paper, we present a novel fiber-optic open-cavity Fabry-Perot interferometer (FPI), which is specially designed for microfluidic refractive index (RI) sensing. An etching Side-hole fiber (SHF) was sandwiched between in two single-mode-fibers (SMF) and then a cavity was opened up by chemical etching method in the SHF. The minute order of the etching process endow such FPIs with low cost and ease of fabrication. For further microfluidic sensing test, the FPI was integrated with a cross microfluidic slit that was fabricated through photolithography. The refractive index response of the FPI was characterized using sodium hydroxide solution with RI range from 1.3400 to 1.3470. Experimental results show that FPIs with different length of open-cavity have the similar liner RI response with different RI sensitivities. The optimal RI sensitivity of more than 1138 nm/RI can be achieved with open-cavity length of 56 μm. The temperature response was also investigated, which shows that FPIs exhibit a very low temperature cross-sensitivities of 4.00 pm/ °C and 1.95 pm/ °C corresponding FPIs with cavity length of 123 μm and 56 μm, respectively. Such good performance renders the FPI a promising in-line microfluidic sensor for temperature-insensitive RI sensing.

  4. Wavelength-switched phase interrogator for extrinsic Fabry-Perot interferometric sensors.

    Science.gov (United States)

    Xia, Ji; Xiong, Shuidong; Wang, Fuyin; Luo, Hong

    2016-07-01

    We report on phase interrogation of extrinsic Fabry-Perot interferometric (EFPI) sensors through a wavelength-switched unit with a polarization-maintaining fiber Bragg grating (PMFBG). The measurements at two wavelengths are first achieved in one total-optical path. The reflected peaks of the PMFBG with two natural wavelengths are in mutually perpendicular polarization detection, and they are switched through an electro-optic modulator at a high switching speed of 10 kHz. An ellipse fitting differential cross multiplication (EF-DCM) algorithm is proposed for interrogating the variation of the gap length of the EFPI sensors. The phase demodulation system has been demonstrated to recover a minimum phase of 0.42  μrad/Hz at the test frequency of 100 Hz with a stable intensity fluctuation level of ±0.8  dB. Three EFPI sensors with different cavity lengths are tested at the test frequency of 200 Hz, and the results indicate that the system can achieve the demodulation of EFPI sensors with different cavity lengths stably.

  5. 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.

  6. Fiber optic anemometer based on silicon Fabry-Pérot interferometer

    Science.gov (United States)

    Liu, Guigen; Hou, Weilin; Qiao, Wei; Han, Ming

    2015-05-01

    Flowmeters have been finding vast applications in all kinds of industrial processes, such as process control, food quality surveillance, wind turbines, environment monitoring, etc. In this paper, we propose a new anemometer which consists of a Fabry-Pérot interferometer (FPI) implemented using a thin silicon mounted on the tip of an optical fiber. The anemometer takes advantage of the superior thermal and optical properties of silicon. Silicon is transparent to infrared wavelength, while it absorbs visible light. Thus, the silicon FPI can be heated by a beam injected from a red diode laser while the infrared signals go through it without any interference from the heating light. The heat loss from the silicon film will increase when the sensor is placed in stronger flow (wind), which induces a decrease in the optical path of the silicon FPI, which lead to blueshifts the output spectrum. A higher wind speed corresponds to a larger wavelength shift. By tuning the heating power, the response range and sensitivity of the anemometer is changed. Experimental results demonstrate that a wavelength shift -0.574 nm was observed for a wind speed of 4 m/s. Better sensitivity is to be expected when stronger heating applied. The proposed sensor also features simple structure, low cost and fast response.

  7. All-fiber upconversion high spectral resolution wind lidar using a Fabry-Perot interferometer.

    Science.gov (United States)

    Shangguan, Mingjia; Xia, Haiyun; Wang, Chong; Qiu, Jiawei; Shentu, Guoliang; Zhang, Qiang; Dou, Xiankang; Pan, Jian-Wei

    2016-08-22

    An all-fiber, micro-pulse and eye-safe high spectral resolution wind lidar (HSRWL) at 1.5 μm is proposed and demonstrated by using a pair of upconversion single-photon detectors and a fiber Fabry-Perot scanning interferometer (FFP-SI). In order to improve the optical detection efficiency, both the transmission spectrum and the reflection spectrum of the FFP-SI are used for spectral analyses of the aerosol backscatter and the reference laser pulse. Taking advantages of high signal-to-noise ratio of the detectors and high spectral resolution of the FFP-SI, the center frequencies and the bandwidths of spectra of the aerosol backscatter are obtained simultaneously. Continuous LOS wind observations are carried out on two days at Hefei (31.843 °N, 117.265 °E), China. The horizontal detection range of 4 km is realized with temporal resolution of 1 minute. The spatial resolution is switched from 30 m to 60 m at distance of 1.8 km. In a comparison experiment, LOS wind measurements from the HSRWL show good agreement with the results from an ultrasonic wind sensor (Vaisala windcap WMT52). An empirical method is adopted to evaluate the precision of the measurements. The standard deviation of the wind speed is 0.76 m/s at 1.8 km. The standard deviation of bandwidth variation is 2.07 MHz at 1.8 km.

  8. Nondestructive and in situ determination of graphene layers using optical fiber Fabry-Perot interference

    Science.gov (United States)

    Li, Cheng; Peng, Xiaobin; Liu, Qianwen; Gan, Xin; Lv, Ruitao; Fan, Shangchun

    2017-02-01

    Thickness measurement plays an important role for characterizing optomechanical behaviors of graphene. From the view of graphene-based Fabry-Perot (F-P) sensors, a simple, nondestructive and in situ method of determining the thickness of nanothick graphene membranes was demonstrated by using optical fiber F-P interference. Few-layer/multilayer graphene sheets were suspendedly adhered onto the endface of a ferrule with a 125 µm inner diameter by van der Waals interactions to construct micro F-P cavities. Along with the Fresnel’s law and complex index of refraction of the membrane working as a light reflector of an F-P interferometer, the optical reflectivity of graphene was modeled to investigate the effects of light wavelength and temperature. Then the average thickness of graphene membranes were extracted by F-P interference demodulation, and yielded a very strong cross-correlation coefficient of 99.95% with the experimental results observed by Raman spectrum and atomic force microscope. The method could be further extended for determining the number of layers of other 2D materials.

  9. Early post-operative results of percutaneous needle fasciotomy in 451 patients with Dupuytren disease.

    Science.gov (United States)

    Molenkamp, Sanne; Schouten, Tanneke A M; Broekstra, Dieuwke C; Werker, Paul M N; Moolenburgh, J Daniel

    2017-02-13

    Percutaneous needle fasciotomy (PNF) is a minimally invasive treatment modality for Dupuytren disease (DD). In this study we analyzed the efficacy and complication-rate of PNF using a statistical method that takes the multi-level structure of data, regarding multiple measurements from the same patients, into account. The data of 470 treated rays from 451 patients with Dupuytren disease that underwent percutaneous needle fasciotomy (PNF) were analyzed retrospectively. We described the early postoperative results of PNF and we applied linear mixed models to compare mean correction of PED between joints and efficacy of primary versus secondary PNF. Mean preoperative PED's at the metacarpophalangeal (MCP), proximal interphalangeal (PIP) and distal interphalangeal (DIP) joints were 37˚, 40˚ and 31˚ respectively. Mean preoperative TPED was 54˚. Results were excellent, with a mean TPED correction of 85%. PNF was most effective for MCP-joints and less effective for PIP and DIP-joints. Secondary PNF was as effective as primary PNF. Complications were rare and mostly minor. The results of this study confirm that PNF is an effective and safe treatment modality for patients with mild to moderate disease who prefer a minimally invasive procedure.

  10. Early Postoperative Results of Percutaneous Needle Fasciotomy in 451 Patients with Dupuytren Disease.

    Science.gov (United States)

    Molenkamp, Sanne; Schouten, Tanneke A M; Broekstra, Dieuwke C; Werker, Paul M N; Moolenburgh, J Daniel

    2017-06-01

    Percutaneous needle fasciotomy is a minimally invasive treatment modality for Dupuytren disease. In this study, the authors analyzed the efficacy and complication rate of percutaneous needle fasciotomy using a statistical method that takes the multilevel structure of data, regarding multiple measurements from the same patient, into account. The data of 470 treated rays from 451 patients with Dupuytren disease that underwent percutaneous needle fasciotomy were analyzed retrospectively. The authors described the early postoperative results of percutaneous needle fasciotomy and applied linear mixed models to compare mean correction of passive extension deficit between joints and efficacy of primary versus secondary percutaneous needle fasciotomy. Mean preoperative passive extension deficits at the metacarpophalangeal, proximal interphalangeal, and distal interphalangeal joints were 37, 40, and 31 degrees, respectively. Mean preoperative total passive extension deficit was 54 degrees. Results were excellent, with a mean total passive extension deficit correction of 85 percent. Percutaneous needle fasciotomy was most effective for metacarpophalangeal joints and less effective for proximal interphalangeal and distal interphalangeal joints. Secondary percutaneous needle fasciotomy was as effective as primary percutaneous needle fasciotomy. Complications were rare and mostly minor. The results of this study confirm that percutaneous needle fasciotomy is an effective and safe treatment modality for patients with mild to moderate disease who prefer a minimally invasive procedure. Therapeutic, IV.

  11. Negative Goos-H(a)nchen Effect in Thin-Film Fabry-Perot Filter

    Institute of Scientific and Technical Information of China (English)

    LI Ming-Yu; LIU Xu; MA Xin; LI Yi-Yu; GU Pei-Fu

    2007-01-01

    We investigate the Goos-Hanchen effect of a Gaussian light beam reflected by the thin-film Fabry-Perot filter. It is shown that the Goos-Hanchen shift can be either negative or positive. The Gaussian-beam analysis and stationary phase method are introduced to calculate the lateral shift between the incident beam and the reflected beam at different wavelengths and to analyse the Goos-Hanchen effect in the thin-film Fabry-Perot filter. The effect of the incident beam diameter is also discussed.

  12. The Three-Arm Michelson-Fabry-Pérot Detector for Gravitational Waves

    Institute of Scientific and Technical Information of China (English)

    Chao-Guang Huang; Yong-Gui Li; Ning Zhu

    2016-01-01

    A three-arm Michelson-Fabry-Pérot detector for gravitational waves is designed.It consists of three Michelson Fabry-Pérot interferometers,one for each pair of arms.The new detector can be used to confirm whether the gravitational waves are in general relativity polarization states and to set the strong constraints on non-GR gravitational wave polarization states.By the new detectors,the angular resolution of sources can be improved significantly.With the new detector,it is easier to search for and confirm a gravitational wave signal in the observation data.

  13. Displacement-noise-free gravitational-wave detection with two Fabry-Perot cavities

    CERN Document Server

    Rakhubovsky, Andrey A

    2008-01-01

    We propose two detuned Fabry-Perot cavities, each pumped through both the mirrors, positioned in line as a toy model of the gravitational-wave (GW) detector free from displacement noise of the test masses. It is demonstrated that the noise of cavity mirrors can be completely excluded in a proper linear combination of the cavities output signals. This model is illustrated by a simplified round trip model (without Fabry-Perot cavities). We show that in low-frequency region the obtained displacement-noise-free response signal is stronger than the one of the interferometer recently proposed by S.Kawamura and Y.Chen.

  14. Model of Fabry-Pérot-type electromagnetic modes of a cylindrical nanowire

    DEFF Research Database (Denmark)

    Bordo, Vladimir

    2010-01-01

    The rigorous theory of normal electromagnetic modes of a cylindrical nanowire of finite length is developed. The exact integral equation which determines the solution of Maxwell's equations obeying the boundary conditions at the whole nanowire surface is derived. The nanowire normal (Fabry......-Pérot) modes are defined as non-trivial solutions of the source-free equation. The approach is considered in more detail for elongated nanowires whose length is much larger than their diameter. The resonance condition obtained for a single-mode nanowire resembles the formula for the Fabry-Pérot resonator...

  15. Fiber-Optic Anemometer Based on Silicon Fabry-Perot Interferometer

    Science.gov (United States)

    2015-11-05

    f, oo •• " • ~ OII Ct’ THIS f’ORM CANCELS AND SUPERSEOES All. P~EVIOUS \\I!:RSI Fiber-optic anemometer based on silicon Fabry-Pérot...monitoring, etc. In this paper, we propose a new anemometer which consists of a Fabry-Pérot interferometer (FPI) implemented using a thin silicon mounted...on the tip of an optical fiber. The anemometer takes advantage of the superior thermal and optical properties of silicon. Silicon is transparent to

  16. Short-term results of carotid stenting for the treatment of extracranial carotid occlusive disease

    Institute of Scientific and Technical Information of China (English)

    FU Wei-guo; ZHU Ting; CHEN Bin; JIANG Jun-hao; YANG Jue; SHI Zhen-yu

    2006-01-01

    @@ Carotid artery angioplasty and stenting (CAS) has been performed with increasing frequency for the treatment of extracranial carotid occlusive diseases (ECOD) in recent years. Its feasibility and safety are supported by the Stenting and Angioplasty with Protection in Patient at High Risk for Endarterectomy (SAPPHIRE) trial,1 which revealed a lower incidence of death, stroke and myocardial infarction compared with carotid endarterectomy (CEA) in high-risk patients. However, it is a pity that up to now, initial results of this endovascular procedure have yet been infrequently documented in China. This retrospective study was to analyze the short-term results of CAS to treat ECOD in a single medical center.

  17. Dietary fiber intake reduces risk of inflammatory bowel disease: result from a meta-analysis.

    Science.gov (United States)

    Liu, Xiaoqin; Wu, Yili; Li, Fang; Zhang, Dongfeng

    2015-09-01

    Several epidemiological investigations have been conducted to evaluate the relationship between dietary fiber intake and inflammatory bowel diseases, but the results are inconsistent. This meta-analysis was performed to quantitatively summarize the evidence from observational studies. PubMed, Embase, and Web of Knowledge were searched for relevant articles published up to November 2014. The combined relative risks were calculated with the fixed- or random-effects model. Dose-response relationship was assessed using restricted cubic spline model. We hypothesized that the meta-analysis could yield a summary effect, which would indicate that dietary fiber intake could decrease the risk of ulcerative colitis and Crohn disease (CD). Overall, 8 articles involving 2 cohort studies, 1 nested case-control study, and 5 case-control studies were finally included in this study. The pooled relative risks with 95% confidence intervals of ulcerative colitis and CD for the highest vs lowest categories of dietary fiber intake were 0.80 (0.64-1.00) and 0.44 (0.29-0.69), respectively. A linear dose-response relationship was found between dietary fiber and CD risk, and the risk of CD decreased by 13% (P fiber intake. The results from this meta-analysis indicated that the intake of dietary fiber was significantly associated with a decreased risk of inflammatory bowel disease.

  18. Adrenal medullary transplantation to the caudate nucleus in Parkinson's disease. Initial clinical results in 18 patients.

    Science.gov (United States)

    Allen, G S; Burns, R S; Tulipan, N B; Parker, R A

    1989-05-01

    Results from a pilot study of adrenal medullary autotransplantation for Parkinson's disease are presented. Eighteen patients were studied; 12 were followed up for 1 year, and 6 were followed up for 6 months. Four of 12 patients showed distinct improvement in the signs and symptoms of their disease, as assessed using the Columbia Rating Scale, at 1 year; none showed distinct deterioration. The 6 patients who were followed up for only 6 months were an average of 20 years older and generally more severely affected. None distinctly improved. Morbidity was considered to be minor and transient among the first 12 patients, while 4 of the last 6 patients experienced alteration in mental status lasting as long as several months. This problem has led us to conclude that older patients with preexisting cognitive impairment should not be included in future studies until the benefits are more clearly established. However, we believe that the distinct and persistent improvement seen in some of the younger patients warrants the initiation of a well-designed, randomized, and controlled trial of adrenal medullary autotransplantation for the purpose of confirming these results and assessing the effect of the procedure on the natural progression of Parkinson's disease.

  19. Hearing loss in Pompe disease revisited: results from a study of 24 children.

    Science.gov (United States)

    van Capelle, Carine I; Goedegebure, Andre; Homans, Nienke C; Hoeve, Hans L J; Reuser, Arnold J; van der Ploeg, Ans T

    2010-10-01

    Little information is available regarding the auditory function in Pompe patients. Hearing loss has been reported in classic infantile patients, but it is still unknown whether central nervous system involvement interferes with auditory function and whether enzyme replacement therapy can improve hearing. Auditory function has not been studied in children with milder forms of the disease. We analyzed repetitive auditory brainstem response measurements and pure tone audiometry in 24 children with Pompe disease. Only 1 of 13 patients with milder phenotypes showed recurrent conductive hearing loss, while 10 out of 11 classic infantile patients had sensorineural hearing defects. These patients also had a high prevalence of conductive hearing loss. Five patients showed evidence of mild retrocochlear pathology, suggestive of glycogen accumulation in the central nervous system. Hearing loss persisted during therapy in all patients. The results emphasize the need for careful monitoring of auditory function in classic infantile Pompe patients, and for early implementation of hearing aids to protect speech and language development.

  20. [Results after laparoscopic liver resection: an appropriate option in malignant disease].

    Science.gov (United States)

    Cugat Andorrà, Esteban; Herrero Fonollosa, Eric; García Domingo, María Isabel; Camps Lasa, Judith; Carvajal López, Fernando; Rodríguez Campos, Aurora; Cirera Nogueras, Lluís; Fernández Plana, Julen; de Marcos Izquierdo, José Ángel; Paraira Beser, Marta; San Martín Elizaincín, Marta

    2013-10-01

    The laparoscopic approach is not yet widely used in liver surgery, but has proven to be safe and feasible in selected patients even in malignant disease. The experience and results of a hepato-pancreato-biliary (HPB) surgery unit in the treatment of malignant liver disease by laparoscopic approach is presented. Between February 2002 and May 2011, 71 laparoscopic liver resections were performed, 43 for malignant disease (only patients with more than one year of follow-up were included). Mean age was 63 years old and 58% of the patients were male. Forty-nine per cent of the lesions were located in segments ii-iii. Thirty segmentectomies were performed, 7 limited resections and 6 major hepatectomies. The median operative time was 163 min. There were 3 conversions. Five cases (11%) required blood transfusion. The oral intake began at 32 h and the median hospital stay was 6.7 days. There were no reoperations and there was one case of mortality. Nine patients (21%) had postoperative complications. The mean number of resected lesions was 1.2, with an average size of 3.5 cm. All resections were R0. The median survival after resection of colorectal liver metastases (CLM) was 69% and 43.5% at 36 and 60 months, respectively, and 89% and 68% at 36 and 60 months, respectively, in hepatocellular carcinoma (HCC). The laparoscopic liver resection in malignant disease is feasible and safe in selected patients. The same oncological rules as for open surgery should be followed. In selected patients it offers similar long-term oncological results as open surgery. Copyright © 2012 AEC. Published by Elsevier Espana. All rights reserved.

  1. A new infrared Fabry-Pérot-based radial-velocity-reference module for the SPIRou radial-velocity spectrograph

    Science.gov (United States)

    Cersullo, Federica; Wildi, François; Chazelas, Bruno; Pepe, Francesco

    2017-05-01

    Context. The field of exoplanet research is moving towards the detection and characterization of habitable planets. These exo-Earths can be easily found around low-mass stars by using either photometric transit or radial-velocity (RV) techniques. In the latter case the gain is twofold because the signal induced by the planet of a given mass is higher due to the more favourable planet-star mass ratio and because the habitable zone lies closer to the star. However, late-type stars emit mainly in the infrared (IR) wavelength range, which calls for IR instruments. Aims: SPIRou is a stable RV IR spectrograph addressing these ambitious scientific objectives. As with any other spectrograph, calibration and drift monitoring is fundamental to achieve high precision. However, the IR domain suffers from a lack of suitable reference spectral sources. Our goal was to build, test and finally operate a Fabry-Pérot-based RV-reference module able to provide the needed spectral information over the full wavelength range of SPIRou. Methods: We adapted the existing HARPS Fabry-Pérot calibrator for operation in the IR domain. After manufacturing and assembly, we characterized the FP RV-module in the laboratory before delivering it to the SPIRou integration site. In particular, we measured finesse, transmittance, and spectral flux of the system. Results: The measured finesse value of F = 12.8 corresponds perfectly to the theoretical value. The total transmittance at peak is of the order of 0.5%, mainly limited by fibre-connectors and interfaces. Nevertheless, the provided flux is in line with the the requirements set by the SPIRou instrument. Although we could test the stability of the system, we estimated it by comparing the SPIRou Fabry-Pérot with the already operating HARPS system and demonstrated a stability of better than 1 m s-1 during a night. Conclusions: Once installed on SPIRou, we will test the full spectral characteristics and stability of the RV-reference module. The

  2. Study on Fabry-Perot interference optic fiber temperature sensor%Fabry-Perot干涉式光纤温度传感器的研究

    Institute of Scientific and Technical Information of China (English)

    曹满婷

    2001-01-01

    分析了温度对相位的调制作用以及Fabry-Perot干涉结构检测相位变化的原理,提出了一种具有高灵敏度和高分辨率的相位调制型全光纤结构,并进行了系统的噪声分析

  3. Optic Fiber Fabry-Perot Interferometer Applied to Measuring Temperature and Displacement%测量温度和位移的光纤Fabry-Perot干涉仪

    Institute of Scientific and Technical Information of China (English)

    陈国霖; 戴福隆; 周辛庚

    2002-01-01

    本文描述了两种光纤Fabry-Peort干涉仪的原理、结构和制造方法.采用光频调制方法用以辨别干涉时域条纹的移动方向,实现了对温度和位移的测量.另外还介绍了条纹计数检测的电路原理.

  4. The comparative analysis of results of surgical treatment of myasthenia in the remote periods of disease

    Directory of Open Access Journals (Sweden)

    L. Zaslavsky

    2016-01-01

    Full Text Available Based on long-term follow-up to perform comparative analysis of long-term results of surgical treatment of myasthenia. A retrospective analysis of long-term results of surgical treatment of 146 patients with myasthenia has been carried out. We used the modified Keynes classification to estimate the severity of myasthenia and to summarize the data relating to therapy volume and treatment results. In dependence on the type of thymus lesion patients were divided into two groups. Thymus hyperplasia was verified at — 106 (72.6 % patients, tumor lesion of the thymus gland (thymoma — at 40 (27.4 % ones. The results were estimated in the following periods after thymectomy: 1—2 years, 3—4 years, 5—6 years, 7 — 9 years, 10—14 years, and over 15 years. Short- and longterm results of surgical treatment of myasthenia for the patients without tumor lesions of the thymus gland were significantly better. Positive effects of surgical treatment of myasthenia in patients with hyperplasia are observed after 1 year of surgery (p = 0.0023, and the best results are observed after 5 — 6 year of the disease, then after 7 — 9 year one notes some deterioration of state (p = 0.026. In the myasthenia patients with thymoma one notes the similar trends in dynamics of state, but in general, the results are significantly (p = 0.042 badly than in the group of the patients with hyperplasia. Starting from the first year after operation treatment the patients with myasthenia with thymus hyperplasia have statistically significant (p = 0.048 decrease of average doses of glucocorticoids, and anticholinesterase drugs. The statistically best treatment results were noted for the patients operated at the first year of the disease. Positive result of surgical treatment of myasthenia is noted both in the short- and long-term period and at thymomas. In the group of patients with thymoma one has noted significantly badly results in comparison with group of hyperplasia. It is

  5. RESULTS OF THE STRUGGLE AGAINST INFECTIOUS DISEASES IN THE LITHUANIAN SSR,

    Science.gov (United States)

    CONTROL, USSR, BRUCELLA, DISEASES, PUBLIC HEALTH, RICKETTSIA, INTESTINES, INFECTIOUS DISEASES, TREPONEMA PALLIDUM, DIAGNOSIS(MEDICINE), NEISSERIA GONORRHOEAE, CORYNEBACTERIUM DIPHTHERIAE , STREPTOCOCCUS, VACCINES.

  6. A New Method of processing the Fabry-Perot Interference Fringes%一种新的Fabry-Perot干涉条纹处理方法

    Institute of Scientific and Technical Information of China (English)

    鄂非; 高秋艳; 艾勇

    2009-01-01

    介绍了一种提取Fabry-Perot(法布里-帕罗)干涉条纹圆心点坐标和条纹半径的新方法.首先对干涉图像依次进行二值化处理,对所得到的条纹强度曲线进行均平滤波和自适应滤波,根据条纹灰度值强度余弦函数分布的特点,对条纹灰度值数据进行最小二乘法拟合,获得条纹强度峰值坐标,通过精确的迭代算法,进而获得Fabry-Perot干涉条纹圆心点的坐标;然后再对干涉条纹进行圆周积分,从而可以确定每级Fabry-Perot干涉条纹的半径长度.该方法可提高计算精度,减小计算误差.

  7. Infection of immunodeficient horses with Sarcocystis neurona does not result in neurologic disease.

    Science.gov (United States)

    Sellon, Debra C; Knowles, Donald P; Greiner, Ellis C; Long, Maureen T; Hines, Melissa T; Hochstatter, Tressa; Tibary, Ahmed; Dame, John B

    2004-11-01

    Equine protozoal myeloencephalitis is a progressive neurologic disease of horses most commonly caused by infection with the apicomplexan parasite Sarcocystis neurona. Factors affecting neuroinvasion and neurovirulence have not been determined. We investigated the pathogenesis of infection with S. neurona in horses with severe combined immune deficiency (SCID). Two immunocompetent (IC) Arabian horses and two Arabian horses with SCID were infected orally with 5 x 10(5) sporocysts of S. neurona. Four IC horses and one SCID horse were infected intravenously (i.v.) with 5 x 10(8) merozoites of the WSU-1 isolate of S. neurona. Despite prolonged parasitemia and persistent infection of visceral tissues (skeletal muscle, cardiac muscle, lung, liver, and spleen) as demonstrated by PCR and culture, SCID horses did not develop neurologic signs after oral or i.v. infection. S. neurona was undetectable in the neuronal tissues of SCID horses by either PCR, immunohistochemistry, or culture. In contrast, although parasitemia was undetectable in orally infected IC horses and of only short duration in i.v. infected IC horses, four of six IC horses developed neurologic signs. S. neurona was detectable by PCR and/or culture of neural tissue but not visceral tissue of IC horses with neurologic disease. Infected SCID horses are unable to clear S. neurona from visceral tissues, but the infection does not result in neurologic signs; in contrast, IC horses rapidly control parasitemia and infection of visceral tissues but frequently experience neuroinvasion and exhibit clinical signs of neurologic disease.

  8. Optical fiber Fabry-Perot interferometer with pH sensitive hydrogel film for hazardous gases sensing

    Science.gov (United States)

    Zheng, Yangzi; Chen, Li Han; Chan, Chi Chiu; Dong, Xinyong; Yang, Jingyi; Tou, Zhi Qiang; So, Ping Lam

    2015-09-01

    An optical fiber Fabry-Perot interferometer (FPI) coated with polyvinyl alcohol/poly-acrylic acid (PVA/PAA) hydrogel film for toxic gases measurement has been developed. Splicing a short section of hollow core fiber between two single mode fibers forms the FPI. Dip-coated pH-sensitive PVA/PAA hydrogel film on the fiber end performs as a receptor for binding of volatile acids or ammonia, which makes the sensing film swelling or shrinking and results in the dip wavelength shift of the FPI. By demodulating the evolution of reflection spectrum for various concentrations of volatile acids, a sensitivity of 20.8 nm/ppm is achieved with uniform linearity.

  9. Dynamic behavior of an injection-locked quantum-dash Fabry-Perot laser at zero-detuning.

    Science.gov (United States)

    Pochet, M; Naderi, N A; Terry, N; Kovanis, V; Lester, L F

    2009-11-09

    This work investigates the behavior of a zero-detuned optically-injected quantum-dash Fabry-Perot laser as the injected field ratio is increased from near-zero to levels resulting in stable locking. Using a normalized model describing optically-injected semiconductor lasers, variations in the slave laser's free-running characteristics are shown to have a strong impact on the coupled system's behavior. The theoretical model is verified experimentally using a high resolution spectrometer. It is found that the quantum-dash laser has the technological advantage of a low linewidth enhancement factor at low bias currents that suppresses undesirable Period-2 and chaotic behavior. Such observations suggest that optically-injected quantum-dash lasers can be used as an enabling component for tunable photonic oscillators.

  10. 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.

  11. Investigations of significance of blood smear results in diagnostics of infectious and parasitic diseases in dogs

    Directory of Open Access Journals (Sweden)

    Potkonjak Aleksandar

    2010-01-01

    Full Text Available The microscopic examination of stained smears of peripheral blood is of vital significance in the speedy diagnostics of infectious and parasitic diseases, in particular during the stage of infection when the cause is present in the blood, or blood cells. It is sometimes possible to make a definitive diagnosis of an infectious or parasitic disease following an examination of a stained smear of the peripheral blood. Since microscopic examinations of a peripheral blood smear are applied increasingly rarely in clinical practice, due to the development of other methods for the diagnostics of infectious and parasitic diseases in dogs, as well as the lack of knowledge of the morphology of the numerous causes that can be present in the blood, we carried out an investigation into the presence and spread of infections whose causes can be present in dog blood. The investigations covered 100 dogs from which peripheral blood smears were taken and then stained with a Giemsa solution according to the standard protocol and examined under a microscope with an immersion lens. The examination of peripheral blood smears stained according to Giemsa resulted in the identification of the presence of an Ehrlichia spp. morula in a neutrophil granulocyte in one dog. The presence of hemotropic mycoplasmas was established in erythrocytes of eleven dogs, while the presence of the protozoa Babesia canis in erythrocytes was identified in five dogs included in the investigations. A microscopic examination of dog peripheral blood smears stained according to Giemsa was shown as a speedy, practical, simple, and inexpensive method for making a definitive etiological diagnosis of these infections, and it should be included regularly in standard protocols for the diagnostics of infectious and parasitic diseases.

  12. Early results of coronary artery bypass grafting with coronary endarterectomy for severe coronary artery disease

    Directory of Open Access Journals (Sweden)

    Toischer Karl

    2009-09-01

    Full Text Available Abstract Background Despite the existence of controversial debates on the efficiency of coronary endarterectomy (CE, it is still used as an adjunct to coronary artery bypass grafting (CABG. This is particularly true in patients with endstage coronary artery disease. Given the improvements in cardiac surgery and postoperative care, as well as the rising number of elderly patient with numerous co-morbidities, re-evaluating the pros and cons of this technique is needed. Methods Patient demographic information, operative details and outcome data of 104 patients with diffuse calcified coronary artery disease were retrospectively analyzed with respect to functional capacity (NYHA, angina pectoris (CCS and mortality. Actuarial survival was reported using a Kaplan-Meyer analysis. Results Between August 2001 and March 2005, 104 patients underwent coronary artery bypass grafting (CABG with adjunctive coronary endarterectomy (CE in the Department of Thoracic-, Cardiac- and Vascular Surgery, University of Goettingen. Four patients were lost during follow-up. Data were gained from 88 male and 12 female patients; mean age was 65.5 ± 9 years. A total of 396 vessels were bypassed (4 ± 0.9 vessels per patient. In 98% left internal thoracic artery (LITA was used as arterial bypass graft and a total of 114 vessels were endarterectomized. CE was performed on right coronary artery (RCA (n = 55, on left anterior descending artery (LAD (n = 52 and circumflex artery (RCX (n = 7. Ninety-five patients suffered from 3-vessel-disease, 3 from 2-vessel- and 2 from 1-vessel-disease. Closed technique was used in 18%, open technique in 79% and in 3% a combination of both. The most frequent endarterectomized localization was right coronary artery (RCA = 55%. Despite the severity of endstage atherosclerosis, hospital mortality was only 5% (n = 5. During follow-up (24.5 ± 13.4 months, which is 96% complete (4 patients were lost caused by unknown address 8 patients died (cardiac

  13. Early results of coronary artery bypass grafting with coronary endarterectomy for severe coronary artery disease

    Science.gov (United States)

    Schmitto, Jan D; Kolat, Philipp; Ortmann, Philipp; Popov, Aron F; Coskun, Kasim O; Friedrich, Martin; Sossalla, Samuel; Toischer, Karl; Mokashi, Suyog A; Tirilomis, Theodor; Baryalei, Mersa M; Schoendube, Friedrich A

    2009-01-01

    Background Despite the existence of controversial debates on the efficiency of coronary endarterectomy (CE), it is still used as an adjunct to coronary artery bypass grafting (CABG). This is particularly true in patients with endstage coronary artery disease. Given the improvements in cardiac surgery and postoperative care, as well as the rising number of elderly patient with numerous co-morbidities, re-evaluating the pros and cons of this technique is needed. Methods Patient demographic information, operative details and outcome data of 104 patients with diffuse calcified coronary artery disease were retrospectively analyzed with respect to functional capacity (NYHA), angina pectoris (CCS) and mortality. Actuarial survival was reported using a Kaplan-Meyer analysis. Results Between August 2001 and March 2005, 104 patients underwent coronary artery bypass grafting (CABG) with adjunctive coronary endarterectomy (CE) in the Department of Thoracic-, Cardiac- and Vascular Surgery, University of Goettingen. Four patients were lost during follow-up. Data were gained from 88 male and 12 female patients; mean age was 65.5 ± 9 years. A total of 396 vessels were bypassed (4 ± 0.9 vessels per patient). In 98% left internal thoracic artery (LITA) was used as arterial bypass graft and a total of 114 vessels were endarterectomized. CE was performed on right coronary artery (RCA) (n = 55), on left anterior descending artery (LAD) (n = 52) and circumflex artery (RCX) (n = 7). Ninety-five patients suffered from 3-vessel-disease, 3 from 2-vessel- and 2 from 1-vessel-disease. Closed technique was used in 18%, open technique in 79% and in 3% a combination of both. The most frequent endarterectomized localization was right coronary artery (RCA = 55%). Despite the severity of endstage atherosclerosis, hospital mortality was only 5% (n = 5). During follow-up (24.5 ± 13.4 months), which is 96% complete (4 patients were lost caused by unknown address) 8 patients died (cardiac failure: 3

  14. 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.

  15. Predicting episodic memory performance using different biomarkers: results from Argentina-Alzheimer’s Disease Neuroimaging Initiative

    Science.gov (United States)

    Russo, María Julieta; Cohen, Gabriela; Chrem Mendez, Patricio; Campos, Jorge; Nahas, Federico E; Surace, Ezequiel I; Vazquez, Silvia; Gustafson, Deborah; Guinjoan, Salvador; Allegri, Ricardo F; Sevlever, Gustavo

    2016-01-01

    Purpose Argentina-Alzheimer’s Disease Neuroimaging Initiative (Arg-ADNI) is the first ADNI study to be performed in Latin America at a medical center with the appropriate infrastructure. Our objective was to describe baseline characteristics and to examine whether biomarkers related to Alzheimer’s disease (AD) physiopathology were associated with worse memory performance. Patients and methods Fifteen controls and 28 mild cognitive impairment and 13 AD dementia subjects were included. For Arg-ADNI, all biomarker parameters and neuropsychological tests of ADNI-II were adopted. Results of positron emission tomography (PET) with fluorodeoxyglucose and 11C-Pittsburgh compound-B (PIB-PET) were available from all participants. Cerebrospinal fluid biomarker results were available from 39 subjects. Results A total of 56 participants were included and underwent baseline evaluation. The three groups were similar with respect to years of education and sex, and they differed in age (F=5.10, P=0.01). Mean scores for the baseline measurements of the neuropsychological evaluation differed significantly among the three groups at P0.1). Baseline amyloid deposition and left hippocampal volume separated the three diagnostic groups and correlated with the memory performance (P<0.001). Conclusion Cross-sectional analysis of baseline data revealed links between cognition, structural changes, and biomarkers. Follow-up of a larger and more representative cohort, particularly analyzing cerebrospinal fluid and brain biomarkers, will allow better characterization of AD in our country. PMID:27695331

  16. Risk Factor to Chronic Disease no Transmitted In Cienfuegos, Cuba 2010. Preliminaries results of CARMEN II

    Directory of Open Access Journals (Sweden)

    Mikhail Benet Rodríguez

    2011-04-01

    Full Text Available Chronic diseases are the leading causes of morbidity and mortality in Cuba, the monitoring of them is an important element to alert health care system on its evolution. The aim of this study was to describe the prevalence of four of the most important risk factors for these diseases during the preliminary data of the second survey of Cienfuegos CARMEN project, with emphasis on the differences with the first survey results. Method: Preliminary results of the second CARMEN survey are presented, corresponding to the first (847 cases measured integrally from a probabilitic and representative sample of the adult population of Cienfuegos City. Studied variables included: hypertension; obesity, measured by the body mass index, smoking and diabetes mellitus. Results: 33.7% of interviewed persons were smokers, slightly lower than the first measurement, obesity BMI> = 30 kg/m2 was 18.8%, almost 8% higher than the baseline survey, the arterial hypertension to 35.5% and diabetes mellitus to 6.8%, both well above the measurement of 2001-2002. Conclusions: the risk factors discussed show that the problem after improving over the past 10 years, and generally worsens the values are much higher than those observed during the first measurement CARMEN.

  17. Effects of disturbance on regeneration of Abies fabri forests at the upper reaches of the Yangtze River

    Institute of Scientific and Technical Information of China (English)

    Gao Jia-rong; Gao Yang

    2007-01-01

    Mudflow is the principal disturbance in Abies fabri forests. In the Gongga Mountain areas of the upper reaches of the Yangtze River, the intensities and periodicity of different scale mudflows vary. Small-scale mudflows are more frequent, occurring every one or two years while large-scale mudflows may occur once in more than one hundred years. Through a field study of A. fabri forests during different stages of growth, we analyzed their structural characteristics and discovered that after different sizes of mudflow, poplar and birch often occupy the dominant canopy at the expense of the slow growing A. fabri, for only a small number of saplings are A. fabri that occurs in the first regeneration stage. However, a large number of seed resources can be found in mature A.fabri forests and as a unique regeneration species, A. fabri will gradually replace all the other species and form a stable community of strong shade-tolerant trees. Because of the intimate relationship between growing conditions and soil and water conservation at the upper reaches of the Yangtze River, we should carry out some artificial measurements to control and promote the slow regeneration process of A. fabri.

  18. 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...

  19. Broadband Measurement of Coating Thermal Noise in Rigid Fabry-Perot Cavities

    CERN Document Server

    Chalermsongsak, Tara; Hall, Evan D; Arai, Koji; Gustafson, Eric K; Adhikari, Rana X

    2014-01-01

    We report on the relative length fluctuation of two fixed-spacer Fabry-Perot cavities with mirrors fabricated from silica/tantala dielectric coatings on fused silica substrates. By locking a laser to each cavity and reading out the beat note $\\hat{\

  20. A Lossy Fabry-perot Based Optical Filter for Natural Gas Analysis

    NARCIS (Netherlands)

    Ayerden, N.P.; Ghaderi, M.; De Graaf, G.; Wolffenbuttel, R.F.

    2014-01-01

    A set-up for optical gas composition measurement based on absorption spectroscopy is composed of a white light source, a gas cell and a spectrometer. The Fabry-Perot optical filter is suitable for miniaturization of this system, as it is composed of only two reflectors with a transparent layer in-be

  1. High precision planar waveguide propagation loss measurement technique using a Fabry-Perot cavity

    DEFF Research Database (Denmark)

    Feuchter, Thomas; Thirstrup, Carsten

    1994-01-01

    A high precision measurement technique for characterizing the propagation loss in silica low-loss optical waveguides, based on measuring the contrast of a Fabry-Perot cavity, is demonstrated. The cavity consists of the waveguide coupled to two polarization-maintaining fibers, each end facet coated...

  2. All-Optical Switching Using Fabry-Perot Laser Diodes(Invited paper)

    Institute of Scientific and Technical Information of China (English)

    P. K. A. Wai; L. Y. Chan; H. Y. Tam

    2003-01-01

    In this paper, we investigate all-optical packet switching using a multi-wavelength mutual injection-locked Fabry-Perot laser diode. We observe error-free packet-switching of a 10 Gb/s signal with an extinction ratio of 16.9.

  3. A Novel Extrinsic Fiber-Optic Fabry-Perot Strain Sensor System Based on Optical Amplification

    Institute of Scientific and Technical Information of China (English)

    Yun-Jiang Rao; Jian Jiang; Zheng-Lin Ran

    2003-01-01

    A novel extrinsic fiber-optic Fabry-Perot interferometric strain sensor system is demonstrated based on the simultaneous use of the amplified spontaneous emission and optical amplification. The improvement of 3~4 orders of magnitude in signal level can be achieved.

  4. 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 pr...

  5. Single resonance monolithic Fabry-Perot filters formed by volume Bragg gratings and multilayer dielectric mirrors.

    Science.gov (United States)

    Lumeau, Julien; Koc, Cihan; Mokhun, Oleksiy; Smirnov, Vadim; Lequime, Michel; Glebov, Leonid B

    2011-05-15

    A new class of Fabry-Perot filters produced by a multilayer dielectric mirror deposited on top of a reflecting volume Bragg grating is described. The first fabricated prototype for the 852 nm region demonstrates a 30 pm bandwidth, 90+% transmission at resonance, and a good agreement with theoretical simulation. © 2011 Optical Society of America

  6. Enhanced Transmission in Rolled-up Hyperlenses utilizing Fabry-Pe\\'rot Resonances

    CERN Document Server

    Kerbst, Jochen; Rottler, Andreas; Koitmäe, Aune; Bröll, Markus; Stemmann, Andrea; Heyn, Christian; Heitmann, Detlef; Mendach, Stefan

    2011-01-01

    We experimentally demonstrate that the transmission though rolled-up metal/semiconductor hyperlenses can be enhanced at desired frequencies utilizing Fabry-P\\'erot resonances. By means of finite difference time domain simulations we prove that hyperlensing occurs at frequencies of high transmission.

  7. A Ray-tracing Method to Analyzing Modulated Planar Fabry-Perot Antennas

    DEFF Research Database (Denmark)

    Hougs, Mikkel Dahl; Kim, Oleksiy S.; Breinbjerg, Olav

    2015-01-01

    A new approach for fast modelling of Fabry-Perot antennas with modulated partially reflective surfaces (PRS) using ray-tracing is proposed. For validation of the method, a configuration is introduced which consists of a cavity with a modulated PRS, fed internally by a magnetic dipole. The PRS con...

  8. A Novel Extrinsic Fiber-Optic Fabry-Perot Strain Sensor System Based on Optical Amplification

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    A novel extrinsic fiber-optic Fabry-Perot interferometric strain sensor system is demonstrated based on the simultaneous use of the amplified spontaneous emission and optical amplification. The improvement of 3~4 orders of magnitude in signal level can be achieved.

  9. A Ray-tracing Method to Analyzing Modulated Planar Fabry-Perot Antennas

    DEFF Research Database (Denmark)

    Hougs, Mikkel Dahl; Kim, Oleksiy S.; Breinbjerg, Olav

    2015-01-01

    A new approach for fast modelling of Fabry-Perot antennas with modulated partially reflective surfaces (PRS) using ray-tracing is proposed. For validation of the method, a configuration is introduced which consists of a cavity with a modulated PRS, fed internally by a magnetic dipole. The PRS...

  10. Development of tunable Fabry-Perot spectral camera and light source for medical applications

    Science.gov (United States)

    Kaarre, M.; Kivi, S.; Panouillot, P. E.; Saari, H.; Mäkynen, J.; Sorri, I.; Juuti, M.

    2013-05-01

    VTT has developed a fast, tunable Fabry-Perot (FP) filter component and applied it in making small, lightweight spectral cameras and light sources. One application field where this novel technology is now tested is medical field. A demonstrator has been made to test the applicability of FP based spectral filtering in the imaging of retina in visible light wavelength area.

  11. 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.

  12. All-Optical Switching Using Fabry-Perot Laser Diodes (Invited paper)

    Institute of Scientific and Technical Information of China (English)

    P.; K.; A.; Wai; L.; Y.; Chan; H.; Y.; Tam

    2003-01-01

    In this paper, we investigate all-optical packet switching using a multi-wavelength mutual injection-locked Fabry-Perot laser diode. We observe error-free packet-switching of a 10 Gb/s signal with an extinction ratio of 16.9.

  13. 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...

  14. Thermospheric wind and temperature fields observed using two ground based all-sky imaging Fabry-Perot spectrometers in Antarctica

    Science.gov (United States)

    Conde, M.; Bristow, W. A.; Hampton, D. L.; Kosch, M. J.; Ishii, M.; Paxton, L. J.; Davies, T.

    2016-12-01

    During the austral summer of 2015-2016 two new all-sky imaging Fabry-Perot spectrometers were installed in Antarctica to measure wind and temperature fields in the lower and middle thermosphere, at heights spanning a range from approximately 110 to 240 km altitude. The instruments are located at McMurdo and South Pole stations, both of which are typically near the equatorward edge of the polar cap under quiet to moderate levels of activity. Automated nightly observations began in March (McMurdo) and April (South Pole) of 2016. The instruments record Doppler spectra of the thermospheric oxygen 558 nm green line and 630 nm red line emissions. They view the sky down to around 70 degrees zenith angle, with this field being divided in software into 115 sub-regions, each of which gives an independent measure of Doppler temperature and line-of-sight wind. Typical integration times are one to several minutes. Here we will present an overview of the results obtained during this first season, including both climatological averages and examples of data from individual days. The overall behavior is generally as expected, with winds blowing approximately antisunward at all local times. However substantial local perturbations about this mean flow occur frequently, and are seen to be collocated with regions of strong ion convection observed by the SuperDARN radar network, and with regions of bright aurora, as observed by the Fabry-Perot instruments themselves, and by the SSUSI instruments aboard the DMSP F16 to F18 satellites. F-region neutral temperatures recorded on most days are spatially uniform and slowly varying in time. However very significant spatial and temporal temperature variations are observed during times of geomagnetic disturbance. Wave activity is also very a very common feature of the observed wind fields. These results are morphologically quite different to the behavior seen by similar instruments located in the northern hemisphere auroral zone. Reasons for

  15. Periodontal disease, chronic kidney disease and mortality: results from the third National Health and Nutrition Examination Survey.

    Science.gov (United States)

    Ricardo, Ana C; Athavale, Ambarish; Chen, Jinsong; Hampole, Hemanth; Garside, Daniel; Marucha, Phillip; Lash, James P

    2015-07-07

    Periodontal disease is associated with increased mortality in the general population, however its prognostic significance in chronic kidney disease (CKD) is not known. We evaluated the joint effect of periodontal disease and CKD on all-cause and cardiovascular mortality. Prospective observational study of 10,755 adult participants in the National Health and Nutrition Examination Survey, 1988-1994 (NHANES III). CKD was defined as estimated glomerular filtration rate Periodontal disease was defined as moderate (> 4 mm attachment loss in ≥ 2 mesial sites or 5 mm pocket depth in ≥ 2 mesial sites), or severe (> 6 mm attachment loss in ≥ 2 mesial sites and > 5 mm pocket depth in ≥ 1 mesial site). All-cause and cardiovascular mortality were evaluated using Cox proportional hazards models. There were 1,813 deaths over a median follow-up of 14 years. In multivariate analyses, as compared to participants with neither periodontal disease nor CKD, those with periodontal disease only or CKD only had increased all-cause mortality (HR 1.39; 95 % CI, 1.06-1.81 and 1.55; 1.30-1.84, respectively). The presence of both periodontal disease and CKD was associated with HR (95 % CI) 2.07 (1.65-2.59) for all-cause mortality, and 2.11 (1.52-2.94) for cardiovascular mortality. We found no evidence of multiplicativity or additivity between periodontal disease and CKD. In stratified analyses limited to individuals with CKD, periodontal disease (vs. not) was associated with adjusted HR (95 % CI) 1.35 (1.04-1.76) for all-cause, and 1.36 (0.95-1.95) for cardiovascular mortality. These findings confirm the well-established association between periodontal disease and increased mortality in the general population, and provide new evidence of this association among individuals with CKD.

  16. Epidemiology of chronic renal disease in the Galician population: results of the pilot Spanish EPIRCE study.

    Science.gov (United States)

    Otero, Alfonso; Gayoso, Pilar; Garcia, Fernando; de Francisco, Angel L

    2005-12-01

    Chronic kidney disease (CKD) is a major social health problem because of the aging of the population, the high incidence of diabetes mellitus, and the epidemic of silent CKD resulting from inadequate diagnosis of early chronic renal insufficiency The sociodemographic, baseline characteristics and CKD prevalence measured by the Modification of Diet in Renal Disease formula were studied in a randomly selected sample of people aged 20 years or older in the general population. We report the results of the analysis of the EPIRCE (Estudio Epidemiológico de la Insuficiencia Renal en España) pilot study performed in Galicia, Spain, in the last quarter of 2004. Baseline characteristics, sociodemographic characteristics, and results of a clinical examination and blood variables were collected from 237 patients who fulfilled the study's inclusion and exclusion criteria. The mean age of the sample was 49.58 years (95% confidence interval, 47.39-51.76). The prevalence of Kidney Disease Outcomes Quality Initiative grade 3 CKD was 5.1%, but the coexistence of an albumin/creatinine ratio>30 mg/g with grade 1 to 2 CKD raised the final rate to 12.7% in this population. We found a high prevalence of hypertension (31.5%), isolated systolic hypertension (20.1%), diabetes mellitus (8%), obesity (13.1%), smoking habit (22.7%), high atherogenic index (30.8%), and high alcohol intake (24%). Risk factors significantly associated with renal disease were age [P=0.018; odds ratio (OR) 2.7], hypertension (P=0.023; OR 2.13), pulse pressure (P=0.04; OR 0.10), diabetes mellitus (P=0.08; OR 4.48), obesity (P=0.000; OR 7.7), and insulin resistance index (P=0.04; OR 4.95). The prevalence of CKD and conventional cardiovascular risk factors is high in this randomly selected sample of the general population. Secondary preventive measures are needed to detect chronic kidney impairment as early as possible and to reduce the incidence and mortality arising from the associated comorbidities.

  17. Does dermatitis herpetiformis result in bone loss as coeliac disease does?: a cross sectional study

    Directory of Open Access Journals (Sweden)

    Katalin Lorinczy

    Full Text Available Introduction and objectives: coeliac disease (CD and its cutaneous manifestation, dermatitis herpetiformis are both (DH gluten-sensitive diseases. Metabolic bone disease is common among patients with CD, even in asymptomatic forms. Data are scarce about bone density in patients with dermatitis herpetiformis. The aim of our study was to compare bone mineral density (BMD of celiac and dermatitis herpetiformis patients. Methods: 34 coeliac patients, 53 with dermatitis herpetiformis and 42 healthy controls were studied. The mean age was 38.0 ± 12.1, 32.18 ± 14.95, 35.33 ± 10.41 years in CD, dermatitis herpetiformis, and healthy controls, respectively. Bone mineral density of the lumbar spine, the left femoral neck and radius were measured by dual-energy X-ray absorptiometry. Low bone density, osteopenia and osteoporosis were defined as a body mass density (BMD T-score between 0 and -1, between -1 and -2.5, and under -2.5, respectively. Results: at lumbar region, consisting of dominantly trabecular compartment, a decreased BMD was detected in 49 % (n = 26 patients with dermatitis herpetiformis, 62 % (n = 21 of CD patients, and 29 % (n = 12 of healthy controls, respectively. Lower BMD were measured at the lumbar region in dermatitis herpetiformis and CD compared to healthy subjects (0.993 ± 0.136 g/cm² and 0.880 ± 0.155 g/cm² vs. 1.056 ± 0.126 g/cm²; p < 0.01. Density of bones consisting of dominantly cortical compartment (femoral neck did not differ in dermatitis herpetiformis and healthy subjects. Conclusions: our results show that a low bone mass is also frequent among patients with dermatitis herpetiformis. Bone mineral content in these patients is significantly lower in those parts of the skeleton which contain more trabecular than cortical bone.

  18. Evaluation of Methacholine Challenge Test Results in Chronic Cough Patients Referring to Clinic of Pulmonary Disease

    Directory of Open Access Journals (Sweden)

    Derakhshan Deilami Gholamreza

    2009-10-01

    Full Text Available Chronic cough is a common problem in patients visiting physicians and its prevalence in different populations range from 3 to 40%. Postnasal drip, asthma and gastroesophageal reflux are the known cause of chronic cough. Although diagnosis of asthma is usually made by clinical signs and spirometeric results, methacholine challenge test is a good diagnostic test in patients who show normal physical examination and spirometeric results. In this study, the results of methacholine challenge test in chronic cough patients are investigated. This is a cross sectional study performed on patients suffering from chronic cough (over 8 weeks, who went to Pulmonary Disease Clinic of Imam Khomeini Hospital in 2006. Postnasal drip, gastroesophageal reflux was evaluated and ruled out in all patients. Then they were tested by methacholine inhalation using low to high doses of methacholine. The results of test was defined as 20% fall in FEV1 and its relationship with age, sex, history of allergic disease, family history of asthma and smoking status was investigated. 81 patients (36 female and 45 male entered this study who had mean age of 32.5 ± 13.06 years. 81.5% of patients had never smoked or closed contact with smokers, 6.2% were passive smokers, 8.6% were smokers and 3.7% had quit smoking. 37% had suffered from chronic cough less than 6 months, 11% for 6-11 months and 52% for more than 12 months. In 26% of patients, family history of asthma was present and 34.5% had a history of one type of allergy. In 29.5% the results of methacholine challenge test was positive, among them 45.8% showed an intense response and 54.2% a moderate response. The test results and its intensity had no statistically significant relationship with age, sex, smoking status, the duration of cough and family history of asthma, but the relationship between methacholine challenge test and the history of allergic disease was significant. Methacholine challenge test can be used as a

  19. Laparoscopic adrenalectomy for malignant disease – Technical feasibility and oncological results

    Directory of Open Access Journals (Sweden)

    Marcos Tobias Machado

    2007-03-01

    Full Text Available Objective: Laparoscopic resection is the gold standard for treatmentof benign adrenal lesions. Laparoscopic resection of malignant lesions,however, is controversial, and there are only limited series publishedin the literature. The aim of this study is to describe technical aspectsand oncological results of laparoscopic adrenalectomy for malignantdisease. Methods: Eight patients (five men and three womenunderwent laparoscopic adrenalectomy for primary or metastaticadrenal malignancy. The procedures were performed transperitoneallyin two cases and retroperitoneally in 6 cases. Results: The meanincision size was 5 cm (4-9 cm, the mean duration of surgery was135 minutes and the mean blood loss was 250 ml. There was onecase of postoperative pneumonia, which progressed favorably.Histopathological diagnosis was metastasis in four cases and primaryadrenal neoplasm in four cases. There were two cases of systemicrecurrence in patients with metastatic adrenal cancer which originatedfrom breast-cancer in one case and lung cancer in another case. Localrecurrence or implantations on the trocar sites were not observed.All patients with primary adrenal neoplasms and 50% of those withmetastatic lesions of the adrenal were alive at the end of the follow-upperiod. Conclusion: Treatment of adrenal malignant disease can besafely performed through videolaparoscopy in patients with primaryadenocarcinoma or adrenal gland metastasis. The prognosis dependson resectability and biological aggressiveness of the disease.

  20. Renal parenchymal histopathology predicts life-threatening chronic kidney disease as a result of radical nephrectomy.

    Science.gov (United States)

    Sejima, Takehiro; Honda, Masashi; Takenaka, Atsushi

    2015-01-01

    The preoperative prediction of post-radical nephrectomy renal insufficiency plays an important role in the decision-making process regarding renal surgery options. Furthermore, the prediction of both postoperative renal insufficiency and postoperative cardiovascular disease occurrence, which is suggested to be an adverse consequence caused by renal insufficiency, contributes to the preoperative policy decision as well as the precise informed consent for a renal cell carcinoma patient. Preoperative nomograms for the prediction of post-radical nephrectomy renal insufficiency, calculated using patient backgrounds, are advocated. The use of these nomograms together with other types of nomograms predicting oncological outcome is beneficial. Post-radical nephrectomy attending physicians can predict renal insufficiency based on the normal renal parenchymal pathology in addition to preoperative patient characteristics. It is suggested that a high level of global glomerulosclerosis in nephrectomized normal renal parenchyma is closely associated with severe renal insufficiency. Some studies showed that post-radical nephrectomy severe renal insufficiency might have an association with increased mortality as a result of cardiovascular disease. Therefore, such pathophysiology should be recognized as life-threatening, surgically-related chronic kidney disease. On the contrary, the investigation of the prediction of mild post-radical nephrectomy renal insufficiency, which is not related to adverse consequences in the postoperative long-term period, is also promising because the prediction of mild renal insufficiency might be the basis for the substitution of radical nephrectomy for nephron-sparing surgery in technically difficult or compromised cases. The deterioration of quality of life caused by post-radical nephrectomy renal insufficiency should be investigated in conjunction with life-threatening matters.

  1. Cerebral Small Vessel Disease and Motoric Cognitive Risk Syndrome: Results from the Kerala-Einstein Study

    Science.gov (United States)

    Wang, Nan; Allali, Gilles; Kesavadas, Chandrasekharan; Noone, Mohan L.; Pradeep, Vayyattu G.; Blumen, Helena M.; Verghese, Joe

    2017-01-01

    Background The contribution of cerebral small vessel disease to cognitive decline, especially in non-Caucasian populations, is not well established. Objective We examined the relationship between cerebral small vessel disease and motoric cognitive risk syndrome (MCR), a recently described pre-dementia syndrome, in Indian seniors. Methods 139 participants (mean age 66.6 ± 5.4 y, 33.1% female) participating in the Kerala-Einstein study in Southern India were examined in a cross-sectional study. The presence of cerebral small vessel disease (lacunar infarcts and cerebral microbleeds (CMB)) and white matter hyperintensities on MRI was ascertained by raters blinded to clinical information. MCR was defined by the presence of cognitive complaints and slow gait in older adults without dementia or mobility disability. Results Thirty-eight (27.3%) participants met MCR criteria. The overall prevalence of lacunar infarcts and CMB was 49.6% and 9.4%, respectively. Lacunar infarcts in the frontal lobe, but no other brain regions, were associated with MCR even after adjusting for vascular risk factors and presence of white matter hyperintensities (adjusted Odds Ratio (aOR): 4.67, 95% CI: 1.69–12.94). Frontal lacunar infarcts were associated with slow gait (aOR: 3.98, 95% CI: 1.46–10.79) and poor performance on memory test (β: −1.24, 95% CI: −2.42 to −0.05), but not with cognitive complaints or non-memory tests. No association of CMB was found with MCR, individual MCR criterion or cognitive tests. Conclusions Frontal lacunar infarcts are associated with MCR in Indian seniors, perhaps, by contributing to slow gait and poor memory function. PMID:26757037

  2. Patient perspectives on the impact of Crohn’s disease: results from group interviews

    Directory of Open Access Journals (Sweden)

    Norton BA

    2012-07-01

    Full Text Available Beth-Ann Norton,1 Rosemarie Thomas,2 Kathleen G Lomax,2 Sharon Dudley-Brown31Massachusetts General Hospital, Boston, MA, USA; 2Abbott Laboratories, Abbott Park, IL, USA; 3Johns Hopkins University, Schools of Medicine and Nursing, Baltimore, MD, USAAim: To understand the impact of Crohn’s disease (CD on various aspects of daily life from the perspective of patients living with CD. Awareness of the disease and biologic therapies, patient satisfaction and adherence, and physician (provider relationships were also assessed.Background: CD is a chronic, inflammatory, autoimmune disorder of the gastrointestinal tract that substantially impacts patients’ physical and emotional well-being. For patients eligible for biologic therapy, anti-tumor necrosis factor agents represent an important addition to the available therapies for CD.Methods: The study sample included biologic-naïve and biologic-experienced patients who had self-reported moderate to severe CD, were under the care of a specialist, and agreed to film a video diary and participate in a focus group. Data from the videos and group interviews were collected from May to June of 2009 and summarized qualitatively by grouping similar answers and quotations.Results: Of the 44 participants who submitted video diaries, 23 were biologic-experienced and 21 were biologic-naïve. Participants stated that CD caused fear and embarrassment, that they were reluctant to share the full impact of CD with family and providers, and that they relied on their provider for treatment decisions. Many participants accepted a new state of normalcy if their current medication helped their most bothersome symptoms without providing sustained remission. Participants receiving biologic therapy generally were more informed, more satisfied, and more likely to adhere to treatment regimens.Conclusion: Participants’ responses suggest a need for more patient education and more collaborative relationships between patients and

  3. Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases.

    Science.gov (United States)

    Krabbenborg, Lotte; Vissers, L E L M; Schieving, J; Kleefstra, T; Kamsteeg, E J; Veltman, J A; Willemsen, M A; Van der Burg, S

    2016-12-01

    The use of whole exome sequencing (WES) for diagnostics of children with rare genetic diseases raises questions about best practices in genetic counselling. While a lot of attention is now given to pre-test counselling procedures for WES, little is known about how parents experience the (positive, negative, or inconclusive) WES results in daily life. To fill this knowledge gap, data were gathered through in-depth interviews with parents of 15 children who underwent WES analysis. WES test results, like results from other genetic tests, evoked relief as well as worries, irrespective of the type of result. Advantages of obtaining a conclusive diagnosis included becoming more accepting towards the situation, being enabled to attune care to the needs of the child, and better coping with feelings of guilt. Disadvantages experienced included a loss of hope for recovery, and a loss by parents of their social network of peers and the effort necessary to re-establish that social network. While parents with conclusive diagnoses were able to re-establish a peer community with the help of social media, parents receiving a possible diagnosis experienced hurdles in seeking peer support, as peers still needed to be identified. These types of psychosocial effects of WES test results for parents are important to take into account for the development of successful genetic counselling strategies.

  4. Structure of comorbid diseases in patients with non-alcoholic fatty liver disease, exposed to ionizing radiation as a result of the Chornobyl NPP accident.

    Science.gov (United States)

    Gasanova, O V; Sarkisova, E O; Ovsyannikova, L M; Chumak, A A; Nosach, O V; Nezgovorova, G A; Gromadska, V M

    2014-09-01

    Objective - to study of the structure of comorbid diseases in patients with nonalcoholic fatty liver disease (NAFLD), exposed to ionizing radiation due to the Chornobyl accident, and in the groups of comparison. Materials and methods. Array of surveyed males was divided into 4 groups: the main group - 136 patients with NAFLD affected by the Chornobyl NPP accident, the first comparison group (І CG) - 28 affected by Chornobyl NPP accident without liver disease, the second comparison group (II CG) - 50 patients with NAFLD not exposed to factors of the Chornobyl disaster, and the third comparison group (III CG) - 16 unexposed persons without liver disease. Results. A significant amount of co-morbid pathology was found in all studied groups but III CG: at the average from 4.1 ± 0.4 diseases in II CG to 5.2 ± 0.2 in the main group of patients (p diseases were established. The most common disorders were cardiovascular and cerebrovascular and endocrine diseases. Structure of comorbid pathology in NAFLD in the main study group differed from this in II CG by a significantly greater frequency of detection of cerebrovascular diseases (73.5 and 56 %, p diseases (47.1 %) were more frequent than in II GC: correspondingly 58 % (p diseases and nosological structure. The most common disorders were cardiovascular, cerebrovascular, and endocrine diseases. Significantly higher incidence of essential hypertension, vascular encephalopathy, and thyroid disease was determined.

  5. Absorption enhancement through Fabry-Pérot resonant modes in a 430 nm thick InGaAs/GaAsP multiple quantum wells solar cell

    Energy Technology Data Exchange (ETDEWEB)

    Behaghel, B. [Laboratory for Photonics and Nanostructures (LPN–CNRS), Marcoussis 91460 (France); Institute of Research and Development on Photovoltaic Energy (IRDEP–CNRS), Chatou 78401 (France); NextPV, RCAST and CNRS, The University of Tokyo, Meguro-ku, Tokyo 153-8904 (Japan); Tamaki, R.; Watanabe, K.; Sodabanlu, H. [Research Center for Advanced Science and Technology (RCAST), The University of Tokyo, Meguro-ku, Tokyo 153-8904 (Japan); Vandamme, N.; Dupuis, C.; Bardou, N.; Cattoni, A. [Laboratory for Photonics and Nanostructures (LPN–CNRS), Marcoussis 91460 (France); Okada, Y. [NextPV, RCAST and CNRS, The University of Tokyo, Meguro-ku, Tokyo 153-8904 (Japan); Research Center for Advanced Science and Technology (RCAST), The University of Tokyo, Meguro-ku, Tokyo 153-8904 (Japan); Sugiyama, M. [NextPV, RCAST and CNRS, The University of Tokyo, Meguro-ku, Tokyo 153-8904 (Japan); School of Engineering, The University of Tokyo, Bunkyo-ku, Tokyo 113-8656 (Japan); Collin, S. [Laboratory for Photonics and Nanostructures (LPN–CNRS), Marcoussis 91460 (France); NextPV, RCAST and CNRS, The University of Tokyo, Meguro-ku, Tokyo 153-8904 (Japan); Guillemoles, J.-F., E-mail: jf-guillemoles@chimie-paristech.fr [Institute of Research and Development on Photovoltaic Energy (IRDEP–CNRS), Chatou 78401 (France); NextPV, RCAST and CNRS, The University of Tokyo, Meguro-ku, Tokyo 153-8904 (Japan)

    2015-02-23

    We study light management in a 430 nm-thick GaAs p-i-n single junction solar cell with 10 pairs of InGaAs/GaAsP multiple quantum wells (MQWs). The epitaxial layer transfer on a gold mirror improves light absorption and increases the external quantum efficiency below GaAs bandgap by a factor of four through the excitation of Fabry-Perot resonances. We show a good agreement with optical simulation and achieve around 10% conversion efficiency. We demonstrate numerically that this promising result can be further improved by anti-reflection layers. This study paves the way to very thin MQWs solar cells.

  6. 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.

  7. [Nutritional status and Alzheimer's disease: preliminary results of the REAL.FR study].

    Science.gov (United States)

    Brocker, P; Benhamidat, T; Benoit, M; Staccini, P; Bertogliati, C; Guérin, O; Lechowski, L; Robert, P H

    2003-10-01

    Weight loss is common in elderly people with dementia, particularly those with Alzheimer' disease (AD), and feeding difficulties are major issues in their care in the later stages of the disease. In this study (REAL FR for Réseau sur la maladie d'Alzheimer Français) we prospectively used the Mini Nutritional Assessment (MNA) to examine the nutritional status of 479 subjects. Three groups of patients were studied: group 1 = 22 patients with undernutrition (MNA = 17), group 2 = 166 patients with risk of undernutrition (17 < MNA < 24), and group 3 = 291 patients without undernutrition (MNA = 24). Correlations with behavioral and psychological signs and symptoms of dementia (Neuropsychiatric Inventory NPI), with caregiver distress (Zarit), and with the Mini Mental State Examination (MMSE) were studied. Undernutrition is more frequently associated with low MMSE (p < 0.001), high behavioural disturbances (p < 0.001) and high distress of caregivers (p < 0.001). Risk of undernutrition is also associated with NPI (p < 0.001) and Zarit (p < 0.001). These first results in a French cohort of patients with AD underline the importance of the evaluation of nutritional status and finally the follow-up of eating behavior, cognitive status and the quality of life of the caregivers.

  8. Preliminary results of automated removal of degenerative joint disease in bone scan lesion segmentation

    Science.gov (United States)

    Chu, Gregory H.; Lo, Pechin; Kim, Hyun J.; Auerbach, Martin; Goldin, Jonathan; Henkel, Keith; Banola, Ashley; Morris, Darren; Coy, Heidi; Brown, Matthew S.

    2013-03-01

    Whole-body bone scintigraphy (or bone scan) is a highly sensitive method for visualizing bone metastases and is the accepted standard imaging modality for detection of metastases and assessment of treatment outcomes. The development of a quantitative biomarker using computer-aided detection on bone scans for treatment response assessment may have a significant impact on the evaluation of novel oncologic drugs directed at bone metastases. One of the challenges to lesion segmentation on bone scans is the non-specificity of the radiotracer, manifesting as high activity related to non-malignant processes like degenerative joint disease, sinuses, kidneys, thyroid and bladder. In this paper, we developed an automated bone scan lesion segmentation method that implements intensity normalization, a two-threshold model, and automated detection and removal of areas consistent with non-malignant processes from the segmentation. The two-threshold model serves to account for outlier bone scans with elevated and diffuse intensity distributions. Parameters to remove degenerative joint disease were trained using a multi-start Nelder-Mead simplex optimization scheme. The segmentation reference standard was constructed manually by a panel of physicians. We compared the performance of the proposed method against a previously published method. The results of a two-fold cross validation show that the overlap ratio improved in 67.0% of scans, with an average improvement of 5.1% points.

  9. Influence of the Fineness of Optical Fiber Fabry-Perot Resonant Cavity on the Phase Sensitivity%光纤Fabry-Perot谐振腔的精细度对相位灵敏度的影响

    Institute of Scientific and Technical Information of China (English)

    康崇; 王政平; 黄宗军; 吴强; 韩占国

    2005-01-01

    分析了光纤Fabry-Perot谐振腔的工作原理及其工作点的选择问题,推导了谐振腔的光学相位灵敏度与精细度的关系,给出了理论公式及曲线,并与光纤Math-Zehnder干涉进行了对比,指出了在相位灵敏度上两者的巨大差距,证明了光纤Fabry-Perot干涉的独特优点.介绍了光纤Fabry-Perot干涉的实验系统,提出了检测及计算Fabry-Perot谐振腔有效精细度的方法,实验结果与理论仿真基本吻合.

  10. [The interpretation of immunophenotyping results during diagnostics of lymphatic proliferative disease using immunophenotyping count].

    Science.gov (United States)

    Isaeva, N V; Zaĭtseva, G A; Zagoskina, T P

    2013-02-01

    The article considers immune phenotyping heterogeneity of chronic lymphatic leukemia detected using basic diagnostic markers ofcell. The results of analysis of immune phenotypes of 108 patients with B-cell lymphatic proliferative diseases made it possible to establish that the atypical is related most rarely to indicators of expression of monotypic immunoglobulines and CD5 and most frequently to CD23, FMC7, CD22 and CS79b. During the present observation, the immune phenotyping count made up "3" or "2"points and the atypical alternative was registered among 10% of all examined patients with chronic lymphatic leukemia. It is demonstrated that patients with chronic lymphatic leukemia and with lower immune phenotyping count are characterized by major intensity of tumor substrate.

  11. Indications and Results of HLA-Identical Sibling Hematopoietic Cell Transplantation for Sickle Cell Disease.

    Science.gov (United States)

    Walters, Mark C; De Castro, Laura M; Sullivan, Keith M; Krishnamurti, Lakshmanan; Kamani, Naynesh; Bredeson, Christopher; Neuberg, Donna; Hassell, Kathryn L; Farnia, Stephanie; Campbell, Andrew; Petersdorf, Effie

    2016-02-01

    Although a number of published trials exist of HLA-identical sibling hematopoietic cell transplantation (HCT) for sickle cell disease (SCD) that span 2 decades, when and for whom this therapy should be pursued is a subject of debate. Assessments of the risks of transplant-related complications that include infertility and debilitating graft-versus-host disease and long-term quality of life after successful HCT are difficult to perform without prospective trials in transplant and nontransplant cohorts. However, it is possible to assess the risk of mortality and to compare published rates of survival in individuals with SCD treated and not treated by HCT. In this brief review, projections about mortality risk based on recent published reports are reviewed and summarized. The published data show overall survival and event-free survival rates of 95% and 92%, respectively, in children treated by HLA-identical sibling HCT. The overall survival rates in the Center for International Blood and Marrow Transplant Research (N = 412) and European Blood and Marrow Transplant (N = 487) registries were 91% and 95%, respectively. These results provide broad support for the therapeutic value of HLA-identical sibling HCT for children with SCD and serve as the basis for a strong recommendation in favor of the option of HCT when a suitable donor is available. The experience of HLA-identical sibling HCT in adults with SCD is limited but appears to be similar to results in children. These preliminary observations, however, warrant further investigation.

  12. Results of radiotherapy and vitamin E in the treatment of Peyronie's disease.

    Science.gov (United States)

    Rodrigues, C I; Njo, K H; Karim, A B

    1995-02-01

    A retrospective analysis of 38 patients with Peyronie's disease treated with primary radiotherapy in the period of 1975-1993. Important complaints were curvature of the penis during erection for 92% of the patients, painful erection for 68%, and problems with sexual intercourse for 37.5%. Average size of all indurated plaques was 2.5 cm. The average pretreatment duration of symptoms was 9.5 months. All 38 patients were irradiated with orthovoltage radiotherapy (200 and 250 kV photons) with a total dose of 9 Gy in 5 alternating days (regimen A). Because of minimal response, 16 patients were irradiated again with another 9 Gy in 5 days and finally received 18 Gy (regimen B). With regimen A, a satisfying improvement was achieved for the majority of the patients: 65% experienced less penile pain during erection, 40% reported less curvature of the penis, and 47% experienced an improvement of their sex life. With the higher dose of regimen B there was an additional improvement for a minority of the patients: 25% reported less pain during erection, 21% had less curvature, and 29% experienced an improved sex life. With regimen A, pain improvement was statistically significantly superior when compared to regimen B. For all other improvements (curvature, sexual intercourse, and induration) no dose-response relation could be demonstrated between regimen A and the higher dose regimen B. No patient experienced any radiation-induced morbidity. After evaluating regimen A and regimen B, the overall result was that 76% experienced less pain, 60% reported an improved sex life, and 48% had a diminished curvature during erection. From this analysis it can be concluded that the distressing symptoms of Peyronie's disease can be treated successfully with radiotherapy. Radiotherapy proves to be a safe, noninvasive treatment method without causing morbidity. Low-dose radiotherapy with only a few fractions is recommended for an effective treatment result.

  13. 基于Fabry-Perot干涉测量技术的大坝安全监测系统探究%Research on Monitoring System for Dam Safety Based on Fabry-Perot Interferometry Technology

    Institute of Scientific and Technical Information of China (English)

    周柏兵; 朱劭宇; 谢福临; 王振平

    2006-01-01

    Fabry-Perot干涉测量技术的原理及基于该技术的光纤传感系统作了介绍,分析了Fabry-Perot干涉测量技术原理并推导了有关计算公式,展望此类技术在大坝安全监测中的应用.

  14. Attitudes of Research Participants and the General Public Regarding Disclosure of Alzheimer Disease Research Results

    Science.gov (United States)

    Gooblar, Jonathan; Roe, Catherine M.; Selsor, Natalie J.; Gabel, Matthew J.; Morris, John C.

    2015-01-01

    IMPORTANCE Results of Alzheimer disease (AD) research assessments typically are not disclosed to participants. Recent research has suggested interest in disclosure, but, to our knowledge, few studies have accounted for awareness of potential benefits and limitations of disclosure. OBJECTIVE To determine the attitudes of cognitively normal research participants and members of the general public regarding disclosure of AD research results. DESIGN, SETTING, AND PARTICIPANTS Participants in a longitudinal aging study (Alzheimer Disease Research Center [ADRC]) were given preintervention and postintervention surveys about disclosure attitudes. In a general public sample (The American Panel Survey), participants responded to a similar survey about disclosure attitudes. INTERVENTIONS Participants in the ADRC sample were randomly assigned to a group (n = 119) that read an education intervention about the usefulness of AD biomarkers or to a placebo group (n = 100) that read as its intervention general information about the ADRC. Participants in the general public sample read a brief vignette describing participation in a longitudinal AD study. MAIN OUTCOME AND MEASURE Interest in disclosure of AD research results. RESULTS Cognitively normal ADRC participants (n = 219) were 60.7% (n = 133) female, 83.6% (n = 183) of white race, and reported a mean of 15.91 years of education. Twenty-nine individuals refused participation. The American Panel Survey participants (n = 1418) indicated they did not have AD and were 50.5% (n = 716) female, 76.7% (n = 1087) of white race, and reported a mean of 13.85 years of education. Overall, 77.6% of eligible participants (1583 of 2041) completed the survey in July 2014. Interest in disclosure was high among the ADRC participants (55.1% [119 of 216] were “extremely interested”). Viewing the education intervention predicted lower interest in disclosure (odds ratio, 2.01; 95% CI, 1.15–3.53; P = .02). High subjective risk of AD, a family

  15. The influence of age at disease onset on disease activity and disability: results from the Ontario Best Practices Research Initiative.

    Science.gov (United States)

    Ruban, T N; Jacob, B; Pope, J E; Keystone, E C; Bombardier, C; Kuriya, B

    2016-03-01

    This study aims to compare characteristics between late-onset rheumatoid arthritis (RA) and young-onset RA and determine the association between age at disease onset and disease severity. We cross-sectionally studied 971 patients at the time of entry into the Ontario Best Practices Research Initiative, a registry of RA patients followed up in routine care. We restricted patients to ≤5 years of disease duration. Late-onset RA was defined as an onset ≥60 years of age and young-onset RA <60 years. Group differences were compared, and multivariate linear regression models were used to test the influence of age at onset on Disease Activity Score in 28 Joints with erythrocyte sedimentation rate (DAS28-ESR), Clinical Disease Activity Index (CDAI), and Health Assessment Questionnaire (HAQ) scores. The swollen joint count (6.2 vs. 5.3), acute phase reactants (C-reactive protein (CRP) 17.4 vs. 11.8 mg/L, ESR 30.6 vs. 21.5 mm/h), and comorbidity burden were higher in late-onset RA compared to young-onset RA (p < 0.01). Mean DAS28-ESR (4.6 vs. 4.3) and HAQ (1.2 vs. 1.1) scores were higher in late-onset RA patients (p < 0.05). Late-onset RA patients received more initial disease-modifying antirheumatic drug (DMARD) monotherapy and corticosteroids in comparison to greater DMARD/biologic combination therapy in young-onset RA patients (p < 0.05). Adjusted multivariate analyses showed that late-onset RA was independently associated with higher mean DAS28-ESR and HAQ scores, but not CDAI. Late-onset RA patients have greater disease activity that may contribute to disability early in the disease course. Despite this, initial treatment consists of less combination DMARD and biologic use in late-onset RA patients. This may have implications for future response to therapy and development of joint damage, disability, and comorbidities in this group.

  16. Longterm results and their prognosis in surgical treatment of Grave's disease

    Directory of Open Access Journals (Sweden)

    I V Makarov

    2013-06-01

    Full Text Available This study focuses on improving the results of surgical treatment of patients with diffuse toxic goiter way jus tify the selection of thyroid residue and thyroid status in predicting longterm periods. The basis of the study is the immediate and longterm results of surgical treatment of 138 patients suffering from diffuse toxic goi ter. As a result of the research, with a modern point of clinical and statistical analysis proved the effective ness of fascial subtotal resection of the thyroid gland in patients with diffuse toxic goiter (Graves' disease. The dependence of disorders of the thyroid is remainded of its volume, autoimmune changes and limitations of the operation. The quality of life of patients in the late postoperative period is studied. The tactics of sur gical treatment of patients with diffuse toxic goiter, aimed at the prevention of postoperative recurrence of hyperthyroidism and hypothyroidism on the basis of prediction of the functional state of the thyroid residue in the longterm period, is proposed. Detected optimal sizes of thyroid balance after subtotal resection of the thyroid gland in patients with diffuse toxic goiter permit to objectify the technique of intervention.

  17. Measurements of the phase shift on reflection for low-order infrared Fabry-Perot interferometer dielectric stack mirrors.

    Science.gov (United States)

    Mielke, S L; Ryan, R E; Hilgeman, T; Lesyna, L; Madonna, R G; Van Nostrand, W C

    1997-11-01

    A simple technique based on a Fizeau interferometer to measure the absolute phase shift on reflection for a Fabry-Perot interferometer dielectric stack mirror is described. Excellent agreement between the measured and predicted phase shift on reflection was found. Also described are the salient features of low-order Fabry-Perot interferometers and the demonstration of a near ideal low-order (1-10) Fabry-Perot interferometer through minimizing the phase dispersion on reflection of the dielectric stack. This near ideal performance of a low-order Fabry-Perot interferometer should enable several applications such as compact spectral imagers for solid and gas detection. The large free spectral range of such systems combined with an active control system will also allow simple interactive tuning of wavelength agile laser sources such as CO(2) lasers, external cavity diode lasers, and optical parametric oscillators.

  18. Simultaneous measurement of pressure and temperature by employing Fabry-Perot interferometer based on pendant polymer droplet.

    Science.gov (United States)

    Sun, Bing; Wang, Yiping; Qu, Junle; Liao, Changrui; Yin, Guolu; He, Jun; Zhou, Jiangtao; Tang, Jian; Liu, Shen; Li, Zhengyong; Liu, Yingjie

    2015-02-01

    We investigated a novel and ultracompact polymer-capped Fabry-Perot interferometer, which is based on a polymer capped on the endface of a single mode fiber (SMF). The proposed Fabry-Perot interferometer has advantages of easy fabrication, low cost, and high sensitivity. The variation of the Fabry-Perot cavity length can be easily controlled by using the motors of a normal arc fusion splicer. Moreover, the enhanced mechanical strength of the Fabry-Perot interferometer makes it suitable for high sensitivity pressure and temperature sensing in harsh environments. The proposed interferometer exhibits a wavelength shift of the interference fringes that corresponds to a temperature sensitivity of 249 pm/°C and a pressure sensitivity of 1130 pm/MPa, respectively, around the wavelength of 1560 nm.

  19. Recent Progress in Multiparameter Measurement Based on Extrinsic Fiber-Optic Fabry-Perot Interferometers and Fiber Gratings

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    This paper presents a review of recent progress in simultaneous measurement of multiparameters including strain, temperature, vibration, transverse load, based on the combinations of extrinsic fiber-optic Fabry-Perot interferometers and fiber gratings.

  20. Determination of Absolute Plate Spacing for the Fabry-Perot Subassembly of the Thermosphere Imager for Global Observations Project

    Data.gov (United States)

    National Aeronautics and Space Administration — Task 1: rad test AD7746 component for failure dosage for use in GEO Task 2: Algorithm for determining absolute plate spacing of the TIGO Fabry-Perot plates,...

  1. Enhanced chiral response from the Fabry-Perot cavity coupled meta-surfaces

    Science.gov (United States)

    Yang, Ze-Jian; Hu, De-Jiao; Gao, Fu-Hua; Hou, Yi-Dong

    2016-08-01

    The circular dichroism (CD) signal of a two-dimensional (2D) chiral meta-surface is usually weak, where the difference between the transmitted (or reflected) right and left circular polarization is barely small. We present a general method to enhance the reflective CD spectrum, by adding a layer of reflective film behind the meta-surface. The light passes through the chiral meta-surface and propagates towards the reflector, where it is reflected back and further interacts with the chiral meta-surface. The light is reflected back and forth between these two layers, forming a Fabry-Perot type resonance, which interacts with the localized surface plasmonic resonance (LSPR) mode and greatly enhances the CD signal of the light wave leaving the meta-surface. We numerically calculate the CD enhancing effect of an L-shaped chiral meta-surface on a gold film in the visible range. Compared with the single layer meta-surface, the L-shaped chiral meta-surface has a CD maximum that is dramatically increased to 1. The analysis of reflection efficiency reveals that our design can be used to realize a reflective circular polarizer. Corresponding mode analysis shows that the huge CD originates from the hybrid mode comprised of FP mode and LSPR. Our results provide a general approach to enhancing the CD signal of a chiral meta-surface and can be used in areas like biosensing, circular polarizer, integrated photonics, etc. Project supported by the National Natural Science Foundation of China (Grant No. 61377054).

  2. Evaluation of thermal expansion coefficient of Fabry-Perot cavity using an optical frequency comb

    Science.gov (United States)

    Oulehla, Jindřich; Šmíd, Radek; Buchta, Zdeněk; Čížek, Martin; Mikel, Břetislav; Jedlička, Petr; Lazar, Josef; Číp, Ondřej

    2011-05-01

    In construction of highly mechanically stable measuring devices like AFM microscopes or nano-comparators the use of low expansion materials is very necessary. We can find Zerodur ceramics or ULE glasses used as a frame or basement of these devices. The expansion coefficient of such low-expansion materials is lower than 0.01 x 10-6 m•K-1. For example in case of a frame or basement 20 cm long it leads to a dilatation approximately 4 nm per 1 K. For calculation of the total uncertainty of the mentioned measuring devices the knowledge of the thermal expansion coefficient of the frame or basement is necessary. In this work we present a method, where small distance changes are transformed into rf-frequency signal. The frequency of this signal is detected by a counter which measures the value of the frequency with respect to an ultra-stable time-base. This method uses a Fabry-Perot cavity as a distance measuring tool. The spacer of the optical resonator is made from the investigated low-expansion material. It is placed into a vacuum chamber where the inside temperature is controlled. A selected mode of the femtosecond frequency of the femtosecond comb which represent the distance changes of the optical resonator. The frequency is measured by the rf-counter which is synchronized by a time-base signal from an atomic clock. The first results show the resolution of the method in the 0.1 nm order. Therefore the method has a potential in characterisation of materials in the nanoworld.

  3. Short-wave infrared (SWIR) spectral imager based on Fabry-Perot interferometer for remote sensing

    Science.gov (United States)

    Mannila, Rami; Holmlund, Christer; Ojanen, Harri J.; Näsilä, Antti; Saari, Heikki

    2014-10-01

    VTT Technical Research Centre of Finland has developed a spectral imager for short-wave infrared (SWIR) wavelength range. The spectral imager is based on a tunable Fabry-Perot interferometer (FPI) accompanied by a commercial InGaAs Camera. The FPI consists of two dielectric coated mirrors separated by a tunable air gap. Tuning of the air gap tunes also transmitted wavelength and therefore FPI acts as a tunable band bass filter. The FPI is piezo-actuated and it uses three piezo-actuators in a closed capacitive feedback loop for air gap tuning. The FPI has multiple order transmission bands, which limit free spectral range. Therefore spectral imager contains two FPI in a stack, to make possible to cover spectral range of 1000 - 1700 nm. However, in the first tests imager was used with one FPI and spectral range was limited to 1100-1600 nm. The spectral resolution of the imager is approximately 15 nm (FWHM). Field of view (FOV) across the flight direction is 30 deg. Imaging resolution of the spectral imager is 256 x 320 pixels. The focal length of the optics is 12 mm and F-number is 3.2. This imager was tested in summer 2014 in an unmanned aerial vehicle (UAV) and therefore a size and a mass of the imager were critical. Total mass of the imager is approximately 1200 grams. In test campaign the spectral imager will be used for forest and agricultural imaging. In future, because results of the UAV test flights are promising, this technology can be applied to satellite applications also.

  4. An alternative medicine treatment for Parkinson's disease: results of a multicenter clinical trial. HP-200 in Parkinson's Disease Study Group.

    Science.gov (United States)

    1995-01-01

    The natural occurrence of antiparkinsonian drugs in plants--anticholinergics in Datura stramonium, levodopa in Mucuna pruriens and Vicia faba, dopamine agonist activity in Claviceps purpura, and MAO inhibitor activity in Banisteria caapi-are known. Our study examined the efficacy and tolerability of HP-200, derived from Mucuna prurient, in patients with Parkinson's disease. Sixty patients with Parkinson's disease (46 male and 14 female) with a mean (+/- SD) age of 59 +/- 9 years were treated in an open study for 12 weeks. Of these, 26 patients were taking synthetic levodopa/carbidopa formulations before treatment with HP-200, and the remaining 34 were levodopa naive. HP-200, a powder (supplied as a 7.5 g sachet), was mixed with water and given orally. The Unified Parkinson's Disease Rating Scale (UPDRS) was used at baseline and periodically during the 12-week evaluation. Statistically significant reductions in Hoehn and Yahr stage and UPDRS scores were seen from baseline to the end of the 12-week treatment (p Ayurveda, was found to be an effective treatment for patients with Parkinson's disease.

  5. Epidemiology of peptic ulcer disease: endoscopic results of a systematic investigation in iran.

    Science.gov (United States)

    Barazandeh, Farhad; Yazdanbod, Abbas; Pourfarzi, Farhad; Sepanlou, Sadaf Ghajarieh; Derakhshan, Mohammad H; Malekzadeh, Reza

    2012-04-01

    BACKGROUND Peptic ulcer disease is a multifactorial health problem affecting almost all populations worldwide. Large scale population-based studies are crucial to understanding its scope and specifications in various nations. We aimed to explore environmental risk factors of peptic ulcer disease in the first population based study in Ardabil, Northwest Iran. METHODS This study was a part of a larger survey on upper gastrointestinal tract health conducted in Ardabil and Meshkinshahr with a total catchment area population of 600,000 persons during 2000-01. Using a random sampling proportional to place of residence, 1122 persons aged 40 or elder were selected. 1011 (90.1%) accepted participation and underwent a comprehensive medical examination and a systematic upper gastrointestinal endoscopy. Point prevalence of peptic ulcers was correlated to various life style risk factors. RESULTS Gastric and duodenal ulcers were identified in 33 (3.26%) and 50 (4.94%) participants, making an overall prevalence of 8.20%. Based on multivariable logistic regression analyses, H.pylori infection (OR 3.1, 95% CI: 2.1-4.7), Smoking (OR 1.8, 95% CI: 1.1-6.8), and chronic intake of NSAIDs (OR 2.8, 95% CI: 1.3-4.4) were main risk factors of gastric ulcer. For duodenal ulcer, in addition to H.pylori infection (OR 5.6, 95% CI: 1.9-8.8) and Smoking (OR 2.3, 95% CI: 1.4-6.5), male gender (OR 3.6, 95% CI: 1.2-5.8) and living in an urban area (OR 1.9, 95% CI: 1.1-5.2) were among significant risk factors. CONCLUSION This is the first population-based endoscopic study in North West of Iran reporting accurate point prevalence of peptic ulcer disease. The rate of 3.3% for gastric ulcer and 4.9% for duodenal ulcers are substantially lower than the estimates reported in Asian population-based endoscopic studies but higher than European reports.

  6. [Depressive symptoms in Alzheimer's disease: preliminary results of the REAL.FR study].

    Science.gov (United States)

    Arbus, C; Andrieu, S; Amouyal-Barkate, K; Nourhashémi, F; Schmitt, L; Vellas, B

    2003-10-01

    The Alzheimer's disease (AD) is today regarded as a degenerative pathology with a serious and common complication: occurrence of mental and behavioral disturbances. Among this neuropsychiatrics symptoms, the depressive symptoms occupy a significant place by their frequency and their consequences on the caregiver's burden. The prevalence of such disorders is very variously appreciated in the literature. To assess with precision depressive symptoms in a population with Alzheimer's disease rated on neuropsychiatric inventory NPI. Cross-sectional study of patients with AD presenting at the consultation of psycho-geriatic, geriatric or neurologic services in 16 french university hospitals. The frequency of the depression was evaluated with the NPI on a population of 578 subjects with AD. We studied the association existing between these symptoms and the antecedents of depression and we studied the gravity of these disorders according to the cognitive status. Caregivers describe less one depressive symptom for approximately 40% of the subjects included in the study n = 229. The average score of gravity is close to 4 and is thus clinically significant. More the stage of dementia is severe more the number of subjects presenting a clinically significant score is important. Scores of depression evolve parallel to the stage of dementia. The antecedents of depression are a risk factor for depressive symptoms in the AD p < 0.001. These results confirm those of primary studies. In our study, more than the prevalence of depressive symptoms it seems that is the severity of the disorder which is associated with the dementia severity. The continuation of this work will allow a prospective evaluation of depressive symptoms in the AD.

  7. Implementation and first results of a German chronic kidney disease registry.

    Science.gov (United States)

    Kleophas, Werner; Bieber, Brian; Robinson, Bruce M; Duttlinger, Johannes; Fliser, Danilo; Lonnemann, Gerhard; Rump, L Christian; Pisoni, Ronald L; Port, Friedrich K; Reichel, Helmut

    2013-03-01

    Advanced chronic kidney disease (CKD) is gaining increasing medical and economical importance, but little information exists about treatment variation and the impact of routine clinical treatments on survival, quality of life, and cost. We demonstrate the first results of a national electronic registry of nephrology clinic data that will serve as a resource for the prospective observation of CKD patients in Germany. A large network of German nephrologist practices is currently joining the project. Routinely obtained clinical data for non-dialysis dependent CKD patients are documented in health records electronically, and elements from these data are extracted using QuaNT (Qualitätssicherung Nephrologie und Transplantation) to create a centralized database. Here, we report cross-sectional data from 59 participating nephrology clinics and 6,187 patients with CKD Stage 3 - 5 in 2011. Mean age ± standard deviation (SD) was 72 ± 12 years. The distribution of CKD 3, 4, and 5 (non-dialysis) was 60%, 33%, and 8%, respectively. The major renal diseases were hypertension/vascular nephropathy (47%) and diabetic nephropathy (26%). Reninangiotensin-system inhibitor prescription was 78%. Vitamin D prescription was 50%, phosphate binders 6%, iron (oral or i.v.) 19%, and erythropoietin-stimulating agents 14%. This electronic registry follows clinical nephrology care and outcomes for CKD patients in Germany, and increased participation is anticipated. As a component of the initiative, variation in patient care will be studied to identify best treatment practices in analyses integrated into the international CKD Outcomes and Practice Patterns Study (CKDopps).

  8. Loss of Axin2 results in impaired heart valve maturation and subsequent myxomatous valve disease.

    Science.gov (United States)

    Hulin, Alexia; Moore, Vicky; James, Jeanne M; Yutzey, Katherine E

    2017-01-01

    Myxomatous valve disease (MVD) is the most common aetiology of primary mitral regurgitation. Recent studies suggest that defects in heart valve development can lead to heart valve disease in adults. Wnt/β-catenin signalling is active during heart valve development and has been reported in human MVD. The consequences of increased Wnt/β-catenin signalling due to Axin2 deficiency in postnatal valve remodelling and pathogenesis of MVD were determined. To investigate the role of Wnt/β-catenin signalling, we analysed heart valves from mice deficient in Axin2 (KO), a negative regulator of Wnt/β-catenin signalling. Axin2 KO mice display enlarged mitral and aortic valves (AoV) after birth with increased Wnt/β-catenin signalling and cell proliferation, whereas Sox9 expression and collagen deposition are decreased. At 2 months in Axin2 KO mice, the valve extracellular matrix (ECM) is stratified but distal AoV leaflets remain thickened and develop aortic insufficiency. Progressive myxomatous degeneration is apparent at 4 months with extensive ECM remodelling and focal aggrecan-rich areas, along with increased BMP signalling. Infiltration of inflammatory cells is also observed in Axin2 KO AoV prior to ECM remodelling. Overall, these features are consistent with the progression of human MVD. Finally, Axin2 expression is decreased and Wnt/β-catenin signalling is increased in myxomatous mitral valves in a murine model of Marfan syndrome, supporting the importance of Wnt/β-catenin signalling in the development of MVD. Altogether, these data indicate that Axin2 limits Wnt/β-catenin signalling after birth and allows proper heart valve maturation. Moreover, dysregulation of Wnt/β-catenin signalling resulting from loss of Axin2 leads to progressive MVD. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2016. For Permissions, please email: journals.permissions@oup.com.

  9. BIOBEHAVIORAL PROGNOSTIC FACTORS IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE: Results from the INSPIRE-II Trial

    Science.gov (United States)

    Blumenthal, James A.; Smith, Patrick J.; Durheim, Michael; Mabe, Stephanie; Emery, Charles F.; Martinu, Tereza; Diaz, Philip T.; Babyak, Michael; Welty-Wolf, Karen; Palmer, Scott

    2015-01-01

    Objective To examine the prognostic value of select biobehavioral factors in patients with chronic obstructive pulmonary disease (COPD) in a secondary analysis of participants from the INSPIRE-II trial. Methods Three hundred twenty six outpatients with COPD underwent assessments of pulmonary function, physical activity, body mass index, inflammation, pulmonary symptoms, depression, and pulmonary quality of life, and were followed for up to 5.4 years for subsequent clinical events. The prognostic value of each biobehavioral factor, considered individually and combined, also was examined in the context of existing Global Initiative for Chronic Obstructive Lung Disease (GOLD) 2011 risk stratification. Results Sixty-nine individuals experienced a hospitalization or died over a mean follow-up time period of 2.4 (interquartile range = 1.6) years. GOLD classification was associated with an increased risk of clinical events (HR = 2.72 [95% CI 1.63, 4.54], per stage); Six Minute Walk (HR = 0.50 [0.34, 0.73] per 500 feet), total steps (HR = 0.82 [0.71, 0.94] per 1,000 steps), hsC-reactive protein (HR = 1.44 [1.01, 2.06] per 4.5 mg/L), depression (HR = 1.12 [1.01, 1.25] per 4 points), and pulmonary quality of life (HR = 1.73 [1.14, 2.63] per 25 points) were each predictive over and above the GOLD assessment. However, only GOLD group and Six Minute Walk were predictive of all-cause mortality and COPD hospitalization when all biobehavioral variables were included together in a multivariable model. Conclusion Biobehavioral factors provide added prognostic information over and above measures of COPD severity in predicting adverse events in patients with COPD. PMID:26780299

  10. Long-term results of open and endovascular revascularization of superficial femoral artery occlusive disease

    Science.gov (United States)

    Scali, Salvatore T.; Rzucidlo, Eva M.; Bjerke, Aja A.; Stone, David H.; Walsh, Daniel B.; Goodney, Philip P.; Chang, Catherine K.; Powell, Richard J.

    2017-01-01

    Background First-line treatment for patients with superficial femoral arterial (SFA) occlusive disease has yet to be determined. This study compared long-term outcomes between primary SFA stent placement and primary femoral-popliteal bypass. Periprocedural patient factors were examined to determine their effect on these results. Methods All femoral-popliteal bypasses and SFA interventions performed in consecutive patients with symptoms Rutherford 3 to 6 between 2001 and 2008 were reviewed. Time-dependent outcomes were analyzed using the Kaplan-Meier method and log-rank test. Cox proportional hazards were performed to determine predictors of graft patency. Multivariate analysis was completed to identify patient covariates most often associated with the primary therapy. Results A total of 152 limbs in 141 patients (66% male; mean age, 66 ± 22 years) underwent femoral-popliteal bypass, and 233 limbs in 204 patients (49% male; mean age, 70 ± 11 years) underwent SFA interventions. Four-year primary, primary-assisted, and secondary patency rates were 69%, 78%, and 83%, respectively, for bypass patients and 66%, 91%, and 95%, respectively, for SFA interventions. Six-year limb salvage was 80% for bypass vs 92% for stenting (P = .04). Critical limb ischemia (CLI) and renal insufficiency were predictors of bypass failure. Claudication was a predictor of success for SFA stenting. Three-year limb salvage rates for CLI patients undergoing surgery and SFA stenting were 83%. Amputation-free survival at 3 years for CLI patients was 55% for bypass and 59% for SFA interventions. Multivariate predictors (odds ratios and 95% confidence intervals) of covariates most frequently associated with first-line SFA stenting were TransAtlantic Inter-Society Consensus II A and B lesions (5.9 [3.4-9.1], P 70 years (2.1 [1.4-3.1], Ppatients were more likely to have nondiabetic status (5.6 [3.3-9.4], P patient-specific covariates, and anatomic lesion classification have significant association

  11. Comparison of European Standard Patch Test Results of 330 Patients from an Occupational Diseases Hospital

    Directory of Open Access Journals (Sweden)

    Özge Gündüz

    2016-01-01

    Full Text Available Background and Aim. Contact dermatitis (CD is the most prevalent occupational skin disease with a significant impact on quality of life. Patch testing is used for the identification of responsible allergens which may improve protective and preventive measures in the workplace. Herein, we aim to identify the demographic characteristics and occupation of patients with early diagnosis of occupational CD and compare patch test results. Materials and Methods. The study included 330 patients referred to our clinic between April 2009 and April 2011 and who were patch-tested with 28-allergen European Standard Test. Results. 126 (38% patients were female and 204 (62% were male with a mean age of 36.12 (±13.13 years. Positive allergic reactions were observed in 182 (55% patients. Nickel sulphate (41/126 and potassium dichromate (39/204 were significantly the most common allergens in women and men, respectively (P<0.005. Additionally, the most common occupation in women was household activities (83/126 and in men was manufacturing (80/204. Conclusion. The allergens to which people become sensitized differ according to their working environment and occupation. Classification of occupations is important for identification of sensitization risks and monitoring of changes in allergen distribution of different occupations.

  12. Reduced frequency of knowledge of results enhances learning in persons with Parkinson's disease.

    Science.gov (United States)

    Chiviacowsky, Suzete; Campos, Tiago; Domingues, Marlos Rodrigues

    2010-01-01

    Parkinson's disease (PD) is a progressive neurological disorder, known to cause a large number of motor and non-motor limitations. Research related to factors that affect motor control and learning in people with PD is still relatively limited. The purpose of this study was to compare the effects of different frequencies (100 versus 66%) of knowledge of results (KR) on the learning of a motor skill with spatial demands in participants with PD. Twenty individuals with PD were randomly assigned to one of two groups. The 100% group received KR after each trial, while the 66% group received KR on two thirds of the trials. A linear positioning task with a spatial target was used. Participants carried out the task with the dominant hand while blindfolded. In the acquisition and retention phases, the goal was to position the cursor at a distance of 60 cm from the starting point. The hypothesis was that participants with PD, who practiced with a reduced KR frequency, would demonstrate more effective learning than those who practiced with a 100% KR frequency, similar to previous findings with adults without neurological disorders. The results showed differences between the groups in the retention phase (without KR): The 66% KR group was more accurate and less variable in their performance than the 100% KR group. Thus, reducing KR frequency can enhance motor learning in persons with PD, similar to what has previously been found for unimpaired participants.

  13. Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry

    Directory of Open Access Journals (Sweden)

    Guilherme Dotto Brand

    2013-11-01

    Full Text Available OBJECTIVES: High-throughput mass spectrometry methods have been developed to screen newborns for lysosomal storage disorders, allowing the implementation of newborn screening pilot studies in North America and Europe. It is currently feasible to diagnose Pompe, Fabry, Gaucher, Krabbe, and Niemann-Pick A/B diseases, as well as mucopolysaccharidosis I, by tandem mass spectrometry in dried blood spots, which offers considerable technical advantages compared with standard methodologies. We aimed to investigate whether the mass spectrometry methodology for lysosomal storage disease screening, originally developed for newborns, can also discriminate between affected patients and controls of various ages. METHODS: A total of 205 control individuals were grouped according to age and subjected to mass spectrometry quantification of lysosomal α-glucosidase, β-glucocerebrosidase, α-galactosidase, acid sphingomyelinase, galactocerebrosidase, and α−L-iduronidase activities. Additionally, 13 affected patients were analyzed. RESULTS: The median activities for each enzyme and each age group were determined. Enzyme activities were significantly lower in individuals aged older than 18 years compared with those in newborns. Affected patients presented enzymatic activities corresponding to less than 20% of the age-matched controls. CONCLUSIONS: Our data indicate that the mass spectrometry methodology can be used for the screening of lysosomal storage diseases in non-newborn patients. However, for some diseases, such as Fabry and mucopolysaccharidosis I, a combination of biochemical and clinical data may be necessary to achieve accurate diagnoses.

  14. Clinical Factors and Disease Course Related to Diagnostic Delay in Korean Crohn's Disease Patients: Results from the CONNECT Study.

    Directory of Open Access Journals (Sweden)

    Chang Mo Moon

    Full Text Available Diagnostic delay frequently occurs in Crohn's disease (CD patients because of diagnostic limitations. However, diagnostic delay and its related factors remain poorly defined. Therefore, we aimed to identify the predictors associated with diagnostic delay and to evaluate the impact of diagnostic delay on clinical course in a Korean CD patient cohort. We performed a multicenter retrospective analysis of 1,047 CD patients registered in the Crohn's Disease Clinical Network and Cohort study in Korea. The mean interval of diagnostic delay was 16.0 ± 33.1 months. Multivariate analysis showed that older age at diagnosis (≥40 years (p = 0.014, concomitant upper gastrointestinal (UGI disease (p = 0.012 and penetrating disease behavior at diagnosis (p = 0.001 were positively associated with long diagnostic delay (≥18 months. During the longitudinal follow-up, long diagnostic delay was independently predictive of further development of intestinal stenosis (hazard ratio [HR], 1.43; 95% confidence interval [CI], 1.07-1.93; p = 0.017, internal fistulas (HR, 1.62; 95% CI, 1.12-2.33; p = 0.011, and perianal fistulas (HR, 1.38; 95% CI, 1.06-1.80; p = 0.016. However, as for the risk of abscess formation, bowel perforation, and CD-related abdominal surgery, no significant association with diagnostic delay was observed. Older age at diagnosis, UGI involvement, and penetrating behavior are associated with long diagnostic delay in Korean CD patients. Moreover, diagnostic delay is associated with an increased risk of CD-related complications such as intestinal stenosis, internal fistulas, and perianal fistulas.

  15. Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey

    Science.gov (United States)

    Blöß, Susanne; Klemann, Christian; Rother, Ann-Katrin; Mehmecke, Sandra; Schumacher, Ulrike; Mücke, Urs; Mücke, Martin; Stieber, Christiane; Klawonn, Frank; Kortum, Xiaowei; Lechner, Werner; Grigull, Lorenz

    2017-01-01

    Background Worldwide approximately 7,000 rare diseases have been identified. Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to diagnosis is about 6 years and patients receive several incorrect diagnoses during this time. A multiplicity of factors renders diagnosing a rare disease extremely difficult. Detection of shared phenomena among individuals with different rare diseases could assist the diagnostic process. In order to explore the demand for diagnostic support and to obtain the commonalities among patients, a nationwide Delphi survey of centers for rare diseases and patient groups was conducted. Methods A two-step Delphi survey was conducted using web-based technologies in all centers for rare diseases in Germany. Moreover, the leading patient support group, the German foundation for rare diseases (ACHSE), was contacted to involve patients as experts in their disease. In the survey the experts were invited to name rare diseases with special need for diagnostic improvement. Secondly, communal experiences of affected individuals were collected. Results 166 of 474 contacted experts (35%) participated in the first round of the Delphi process and 95 of 166 (57%) participated in the second round. Metabolic (n = 74) and autoimmune diseases (n = 39) were ranked the highest for need for diagnostic support. For three diseases (i.e. scleroderma, Pompe’s disease, and pulmonary arterial hypertension), a crucial need for diagnostic support was explicitly stated. A typical experience of individuals with a rare disease was stigmatization of having psychological or psychosomatic problems. In addition, most experts endured an ‘odyssey’ of seeing many different medical specialists before a correct diagnosis (n = 38) was confirmed. Conclusion There is need for improving the diagnostic process in individuals with rare diseases. Shared experiences in individuals with a rare disease were observed, which could possibly be utilized for

  16. Risk of intestinal lymphoma in undiagnosed coeliac disease: results from a registered population with different coeliac disease prevalence.

    Science.gov (United States)

    Elli, Luca; Contiero, Paolo; Tagliabue, Giovanna; Tomba, Carolina; Bardella, Maria Teresa

    2012-09-01

    Coeliac disease is often undiagnosed, early diagnosis and treatment could be relevant to avoid fearful complications as intestinal lymphoma. Our aim is to estimate the risk of intestinal lymphoma in undiagnosed coeliac patients, evaluating the real incidences and applying different theoretical settings of coeliac prevalence. We collected cases of intestinal lymphomas from the Lombardy Cancer Registry and coeliac patients through computerized search of all Pathology Departments; duodenal pathological reports compatible with a Marsh 3 grade were included. The lymphoproliferative risk was calculated for theoretical different settings of coeliac prevalence (from 1:50 to 1:200), relative risks for intestinal lymphomas and compared to the real incidence of the lymphomas in this population. Population consisted in 815,362 inhabitants; during the investigated period of time, 237 intestinal lymphomas and 326 coeliac patients were diagnosed. None of the coeliac patients had lymphoma. In the different scenarios calculated and compared with the real lymphoma incidence the relative risks of undiagnosed celiac disease for gastrointestinal B- and T-cell lymphomas ranges from 1.0 to 2.0 for 1:100 coeliac disease prevalence. Undiagnosed coeliac patients have no increased risk of developing intestinal lymphoma; population screening programmes, aimed at early diagnosis of lymphoma may not be useful in this setting. Copyright © 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  17. Mental disorders among persons with heart disease : results from World Mental Health Surveys

    NARCIS (Netherlands)

    Ormel, Johan; Von Korff, Michael; Burger, Huibert; Scott, Kate; Demyttenaere, Koen; Huang, Yue-qin; Posada-Villa, J.; Lepine, Jean Pierre; Angermeyer, Matthias C.; Levinson, Daphna; de Girolamo, Giovanni; Kawakami, Norito; Karam, Elie; Medina-Mora, Maria Elena; Gureje, Oye; Williams, David; Haro, Josep Maria; Bromet, Evelyn J.; Alonso, Jordi; Kessler, Ron

    2007-01-01

    Objectives: While depression and heart disease often co-occur in Western countries, less is known about the association of anxiety and alcohol use disorders with heart disease and about the cross-cultural consistency of this association. Consistency across emotional disorders and cultures would sugg

  18. Sexually Transmitted Diseases and Risk Behaviors among California Farmworkers: Results from a Population-Based Survey

    Science.gov (United States)

    Brammeier, Monique; Chow, Joan M.; Samuel, Michael C.; Organista, Kurt C.; Miller, Jamie; Bolan, Gail

    2008-01-01

    Context: The prevalence of sexually transmitted diseases and associated risk behaviors among California farmworkers is not well described. Purpose: To estimate the prevalence of sexually transmitted diseases (STDs) and associated risk behaviors among California farmworkers. Methods: Cross-sectional analysis of population-based survey data from 6…

  19. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

    NARCIS (Netherlands)

    Haar, N. Ter; Lachmann, H.; Ozen, S.; Woo, P.; Uziel, Y.; Modesto, C.; Kone-Paut, I.; Cantarini, L.; Insalaco, A.; Neven, B.; Hofer, M.; Rigante, D.; Al-Mayouf, S.; Touitou, I.; Gallizzi, R.; Papadopoulou-Alataki, E.; Martino, S.; Kuemmerle-Deschner, J.; Obici, L.; Iagaru, N.; Simon, A.; Nielsen, S.; Martini, A.; Ruperto, N.; Gattorno, M.; Frenkel, J.

    2013-01-01

    OBJECTIVE: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. METHODS: The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases

  20. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

    NARCIS (Netherlands)

    Haar, N. Ter; Lachmann, H.; Ozen, S.; Woo, P.; Uziel, Y.; Modesto, C.; Kone-Paut, I.; Cantarini, L.; Insalaco, A.; Neven, B.; Hofer, M.; Rigante, D.; Al-Mayouf, S.; Touitou, I.; Gallizzi, R.; Papadopoulou-Alataki, E.; Martino, S.; Kuemmerle-Deschner, J.; Obici, L.; Iagaru, N.; Simon, A.; Nielsen, S.; Martini, A.; Ruperto, N.; Gattorno, M.; Frenkel, J.

    2013-01-01

    OBJECTIVE: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. METHODS: The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases

  1. [Results following an action protocol in patients with severe pelvic inflammatory disease].

    Science.gov (United States)

    Abehsera-Davó, Daniel; Panal-Cusati, Mariana; Sánchez-Pastor, Margarita; Herrera de la Muela, Mária; de Santiago-García, Francisco Javier

    2013-06-01

    Pelvic inflammatory disease is manifested by a broad spectrum of genital tract infections that include: endometritis, salpingitis, tubo-ovarian abscess, and pelvic peritonitis. This disease is associated with evidence of inflammation of the lower genital tract. To evaluate the subgroup of patients with a diagnosis of acute pelvic inflammatory disease requiring hospitalization after implementation of the protocol for action in the patient with suspected pelvic inflammatory disease. Retrospective analysis conducted between January and December 2011 in a cohort of patients diagnosed with severe pelvic inflammatory disease after implementation of a hospital protocol for suspected patients with this condition. Patients who met the diagnostic criteria of Centers for Disease Control and Prevention (CDC) and required hospitalization were considered with severe pelvic inflammatory disease. In all cases the same complementary tests were conducted and the same antibiotic protocol was prescribed. We included 38 patients and found a statistically significant relationship between the IUD and mixed gram-negative flora etiologic agent (p pelvic inflammatory disease IUD is associated with gram-negative mixed flora infection. The normal or moderately elevated concentrations of leukocytes were correlated with failure of medical treatment.

  2. Gender, body mass index and rheumatoid arthritis disease activity: results from the QUEST-RA Study

    DEFF Research Database (Denmark)

    Jawaheer, D; Olsen, J; Lahiff, M

    2010-01-01

    To investigate whether body mass index (BMI), as a proxy for body fat, influences rheumatoid arthritis (RA) disease activity in a gender-specific manner.......To investigate whether body mass index (BMI), as a proxy for body fat, influences rheumatoid arthritis (RA) disease activity in a gender-specific manner....

  3. Disease activity trajectories in early axial spondyloarthritis: results from the DESIR cohort.

    Science.gov (United States)

    Molto, Anna; Tezenas du Montcel, Sophie; Wendling, Daniel; Dougados, Maxime; Vanier, Antoine; Gossec, Laure

    2017-06-01

    Disease activity may change over time in axial spondyloarthritis (axSpA). The objectives were to identify patterns of disease activity evolution in patients with early axSpA. Patients from the prospective early axSpA cohort (DEvenir des Spondyloarthrites Indifférenciées Récentes (DESIR)) who fulfilled the Assessment in SpondyloArthritis Society (ASAS) criteria for axSpA at baseline and with at least three Ankylosing Spondylitis Disease Activity Score (ASDAS) values available over the 3 years of follow-up were analysed. Statistical analyses: trajectories were estimated by group-based trajectory modelling; predisposing baseline factors for such trajectories were identified by univariate and multivariable multinomial (logit) regression; work disability over time was compared between the trajectories by Cox hazard model. In all, 370 patients were analysed: mean disease duration was 1.6 (±0.9) years. The five distinct trajectories of disease activity over the 3 years were (t1) 'persistent moderate disease activity' (n=134 (36.2%)); (t2) 'persistent inactive disease' (n=66 (17.8%); (t3) 'changing from very high disease activity to inactive disease' ((n=29 (7.8%)); (t4) 'persistent high disease activity' (n=126 (34.1%)) and (t5) 'persistent very high disease activity' (n=15 (4.1%)). After adjustment for other characteristics, t2 was associated with a white-collar job (OR=2.6 (95% CI 1.0 to 6.7)) and t3 with male gender (OR=7.1 (1.6 to 32.2)), higher education level (OR=9.4 (1.4 to 63.4)) and peripheral joint involvement (OR=6.2 (1.23 to 31.32)). Patients from (t4) and (t5) were more often declared work disabled over follow-up (HR=5.2 (1.5 to 18.0) and HR=8.0 (1.3 to 47.9), respectively). Trajectory modelling of disease activity was feasible in early axSpA: more than 30% patients (141/370) were in a trajectory with a persistent high disease activity. Persistent high disease activity trajectories were significantly associated with consequences on work. NCT01648907

  4. Antidepressant use in Alzheimer's disease patients: results of the REAL.FR cohort.

    Science.gov (United States)

    Arbus, Christophe; Gardette, Virginie; Bui, Eric; Cantet, Christelle; Andrieu, Sandrine; Nourhashémi, Fati; Schmitt, Laurent; Vellas, Bruno

    2010-02-01

    Psychotropic medication is widely prescribed in clinical practice for the management of behavioral and psychological symptoms of dementia (BPSD) in Alzheimer's disease (AD). However, there have been few pharmaco-epidemiological studies or studies conducted in a natural setting on the real use of antidepressants in AD. The aim of this survey was to assess the prevalence of antidepressant use in AD and to identify the clinical factors associated with antidepressant prescription. REAL.FR is a four-year, prospective, multi-center study. Baseline data including demographic characteristics, clinical variables and drug intake were obtained. Depressive symptoms were determined using the Neuropsychiatric Inventory (NPI). A total of 686 AD patients were included. Antidepressant treatment was prescribed for 34.8% of patients. Clinically significant depressive symptoms (NPI >or= 4) were observed in 20.5% of the total population. Although depressed subjects were significantly more likely to be treated with antidepressants than non-depressed subjects (p<0.0001), only 60% of depressed subjects overall were prescribed an antidepressant. In multivariate analysis, clinically significant depressive symptoms were associated with antidepressant prescription although this result was only observed in subjects without a previous history of depression. The available data on antidepressant efficacy in BPSD other than depression (in particular, agitation, aggression and, occasionally, psychotic symptoms) do not influence prescription choices. Depressive symptoms may be taken more seriously in the absence of a previous history of depression, leading to increased antidepressant prescription rates in individuals presenting with depression for the first time.

  5. [Behavioral and psychologic symptoms in Alzheimer's disease: results of the REAL.FR study].

    Science.gov (United States)

    Benoit, M; Staccini, P; Brocker, P; Benhamidat, T; Bertogliati, C; Lechowski, L; Tortrat, D; Robert, P H

    2003-10-01

    Behavioral and Psychological Signs and Symptoms of Dementia (BPSD) are important manifestations of Alzheimer's Disease (AD) and other forms of dementia, because they are associate with care-giver distress, increase the likelihood of institutionalization, and may be associated with more rapid cognitive decline In this study (REAL.FR for Réseau sur la maladie d'Alzheimer Français) we prospectively used the Neuropsychiatric Inventory NPI to examine BPSD. 255 AD patients with a Mini-Mental State Examination (MMSE) score between 11 and 20 and 244 AD patients with a MMSE between 21 and 30 were examined. Factor analysis was carried out leading to three different syndromes according to the level of cognitive impairment. BPSD were detected in 92.5% of the patients with a MMSE between 11 and 20, and in 84% of the patients with a MMSE between 21 and 30. Apathy was the most common abnormality, followed by anxiety and dysphoria. These results in a French cohort of patients with AD underline the importance of the evaluation and finally of the treatment of BPSD.

  6. Is fish oil good or bad for heart disease? Two trials with apparently conflicting results.

    Science.gov (United States)

    Burr, M L; Dunstan, F D J; George, C H

    2005-07-01

    Two successive randomized trials examined the effect of an increased intake of fatty fish, or the use of fish oil supplements, in reducing mortality in men with heart disease. The Diet and Reinfarction Trial (DART) was conducted in 2033 men who were recovering from acute myocardial infarction (MI). Those who were advised to eat fatty fish (or who opted to take fish oil capsules instead) had a 29% reduction in all-cause mortality over the following two years compared with those not so advised. The effect appeared in the first few months of the trial. The Diet and Angina Randomized Trial (DART 2) involved 3114 men with stable angina. Advice to eat fatty fish did not reduce mortality, and taking fish oil capsules was associated with a higher risk of cardiac and sudden death. The adverse effects of fish or fish oil were restricted to men not taking beta-blockers or dihydropyridine calcium-channel blockers, and were greater in those taking digoxin. Evidence from other sources strongly suggests an anti-arrhythmic action of fish oil, particularly after MI or in the presence of acute ischemia. The apparently conflicting results of the two trials may reflect different actions of n-3 fatty acids in acute and chronic conditions, together with different effects of eating fish and taking fish oil capsules. A mechanism is proposed that could account for these findings.

  7. Nonmotor Symptoms Groups in Parkinson's Disease Patients: Results of a Pilot, Exploratory Study

    Directory of Open Access Journals (Sweden)

    Santiago Perez Lloret

    2011-01-01

    Full Text Available Nonmotor symptoms (NMS like neuropsychiatric symptoms, sleep disturbances or autonomic symptoms are a common feature of Parkinson's disease (PD. To explore the existence of groups of NMS and to relate them to PD characteristics, 71 idiopathic non-demented PD out-patients were recruited. Sleep was evaluated by the PD Sleep Scale (PDSS. Several neuropsychiatric, gastrointestinal and urogenital symptoms were obtained from the NMSQuest. Sialorrhea or dysphagia severity was obtained from the Unified PD Rating Scale activities of daily living section. MADRS depression scale was also administered. Exploratory factor analysis revealed the presence of 5 factors, explaining 70% of variance. The first factor included PDSS measurement of sleep quality, nocturnal restlessness, off-related problems and daytime somnolence; the second factor included nocturia (PDSS and nocturnal activity; the third one included gastrointestinal and genitourinary symptoms; the forth one included nocturnal psychosis (PDSS, sialorrhea and dysphagia (UPDRS; and the last one included the MADRS score as well as neuropsychiatric symptoms. Sleep disorders correlated with presence of wearing-off, nocturia with age >69 years, and nocturnal psychosis with levodopa equivalent dose or UPDRS II score. Neuropsychiatric symptoms correlated with UPDRS II+III score and non-tricyclic antidepressants. These results support the occurrence of significant NMS grouping in PD patients.

  8. Fetal Intervention in Right Outflow Tract Obstructive Disease: Selection of Candidates and Results

    Science.gov (United States)

    Gómez Montes, E.; Herraiz, I.; Mendoza, A.; Galindo, A.

    2012-01-01

    Objectives. To describe the process of selection of candidates for fetal cardiac intervention (FCI) in fetuses diagnosed with pulmonary atresia-critical stenosis with intact ventricular septum (PA/CS-IVS) and report our own experience with FCI for such disease. Methods. We searched our database for cases of PA/CS-IVS prenatally diagnosed in 2003–2012. Data of 38 fetuses were retrieved and analyzed. FCI were offered to 6 patients (2 refused). In the remaining it was not offered due to the presence of either favourable prognostic echocardiographic markers (n = 20) or poor prognostic indicators (n = 12). Results. The outcome of fetuses with PA/CS-IVS was accurately predicted with multiparametric scoring systems. Pulmonary valvuloplasty was technically successful in all 4 fetuses. The growth of the fetal right heart and hemodynamic parameters showed a Gaussian-like behaviour with an improvement in the first weeks and slow worsening as pregnancy advanced, probably indicating a restenosis. Conclusions. The most likely type of circulation after birth may be predicted in the second trimester of pregnancy by means of combining cardiac dimensions and functional parameters. Fetal pulmonary valvuloplasty in midgestation is technically feasible and in well-selected cases may improve right heart growth, fetal hemodynamics, and postnatal outcome. PMID:22928144

  9. Photonic crystal fibre Brillouin laser based on Bragg grating Fabry-Perot cavity

    Institute of Scientific and Technical Information of China (English)

    Geng Dan; Yang Dong-Xiao; Shen Guo-Feng; Zhang Xian-Min

    2008-01-01

    A photonic crystal fibre Brillouin laser based on fibre Bragg grating Fabry-Perot cavity is presented. A highly nonlinear photonic crystal fibre 25 m in length is used as Brillouin gain medium and fibre Bragg grating Fabry-Perot cavity is chosen in order to enhance the laser conversion efficiency and suppress the higher-order Stokes waves. The laser reaches the threshold at input power of 35 mW, and the experimental laser conversion efficiency achieves 18% of the input power of 140 mW and does not show higher-order Stokes waves. A photonic crystal fibre BriUouin laser withshorter fibre length and lower threshold is experimentally realized.

  10. Sensing Properties of a Fabry-Perot Dielectric Structure and Dimer Nanoparticles

    Directory of Open Access Journals (Sweden)

    A. Polemi

    2012-01-01

    Full Text Available We investigate the use of a Fabry-Perot dielectric structure combined with differently shaped nanoparticles for Surface Enhanced Raman Scattering. In particular, we show how an ideal two-layer Fabry-Perot configuration enhances the local surface field of silver nanoparticles positioned on the surface of the structure. We develop the concept using disc dimers and then extend the discussion to bowtie nanoparticles. The structure is excited by a single emitter, which couples to the nanoparticles through the dielectric layers, producing a wide aperture field that can be used to excite multiple dimers. We show how an array of nanoparticles can be properly arranged in order to increase the total scattering signal generated from the structure. The layered geometry produces robust field properties in between nanoparticles, making the overall sensing characteristics less sensitive to the interparticle seperation distance and incident polarization.

  11. Design and Fabrication of Integrated Fabry-Perot Type Color Reflector for Reflective Displays.

    Science.gov (United States)

    Cho, Seong M; Cheon, Sang Hoon; Kim, Tae-Youb; Ah, Chil Seong; Song, Juhee; Ryu, Hojun; Chu, Hye Yong

    2016-05-01

    A Fabry-Perot type integrated color reflector, with red/blue/green colors as subpixels, was designed and fabricated with Si substrate. Ag films were used as reflective mirror layers, SiO2 films were used as Fabry-Perot cavity layers and W films were used as partially reflective layers for the cavity. To minimize the effects of the thickness variation of the oxide cavity layers, the structure of the color reflector was optimized, and the differential deposition scheme was devised and applied in the fabrication process. The integrated color reflector was successfully fabricated with the proposed fabrication scheme. The measured white reflectance was > 45% in the visible spectrum range and -49% at 550 nm wavelength. The fabricated reflector had moderate color gamut of 17% of the National Television System Committee (NTSC) standard and it showed very high white reflectivity. The fabricated color reflector is expected to be applicable to reflective displays.

  12. Reflectivity enhanced refractive index sensor based on a fiber-integrated Fabry-Perot microresonator.

    Science.gov (United States)

    Wieduwilt, T; Dellith, J; Talkenberg, F; Bartelt, H; Schmidt, M A

    2014-10-20

    We discuss a fiber-integrated refractive index sensor with strongly improved detection performance. The resonator has been implemented by means of focused-ion beam milling of a step index fiber and shows a sensitivity of about 1.15µm/RIU. Coating the resonator walls led to a strongly improved mirror reflectivity by a factor of about 26. Design rules for device optimization and a detailed mathematical analysis are discussed, revealing that the sensor operates as an optimized Fabry-Perot resonator. We also show that the performance of such kind of Fabry-Perot sensors is, in general, limited by the detection limit function - a quantity depending on the cavitiy's finesse and on the measurement capabilities used.

  13. Silicon-based on-chip electrically tunable sidewall Bragg grating Fabry-Perot filter.

    Science.gov (United States)

    Zhang, Weifeng; Ehteshami, Nasrin; Liu, Weilin; Yao, Jianping

    2015-07-01

    We report the design, fabrication, and testing of a silicon-based on-chip electrically tunable sidewall Bragg grating Fabry-Perot filter. Spectral measurement shows that the filter has a narrow notch in reflection of approximately 46 pm, a Q-factor of 33,500, and an extinction ratio of 16.4 dB. DC measurement shows that the average central wavelength shift rates with forward and reverse bias are -1.15  nm/V and 4.2  pm/V, respectively. Due to strong light confinement in the Fabry-Perot cavity, the electro-optic frequency response shows that the filter has a 3-dB modulation bandwidth of ∼5.6  GHz. The performance of using the filter to perform modulation of a 3.5  Gb/s2(7)-1 nonreturn-to-zero pseudorandom binary sequence is evaluated.

  14. Resolution limits of extrinsic Fabry-Perot interferometric displacement sensors utilizing wavelength scanning interrogation.

    Science.gov (United States)

    Ushakov, Nikolai; Liokumovich, Leonid

    2014-08-10

    The factors limiting the resolution of displacement sensors based on the extrinsic Fabry-Perot interferometer were studied. An analytical model giving the dependency of extrinsic Fabry-Perot interferometric (EFPI) resolution on the parameters of an optical setup and a sensor interrogator was developed. The proposed model enables one to either estimate the limit of possible resolution achievable with a given setup, or derive the requirements for optical elements and/or a sensor interrogator necessary for attaining the desired sensor resolution. An experiment supporting the analytical derivations was performed, demonstrating a large dynamic measurement range (with cavity length from tens of microns to 5 mm), a high baseline resolution (from 14 pm), and good agreement with the model.

  15. 两种提取Fabry-Perot干涉条纹圆心的新方法

    Institute of Scientific and Technical Information of China (English)

    陈龙; 黎玉雯; 朱昭华

    2014-01-01

    本文介绍两种提取Fabry-Perot干涉条纹圆心点坐标的新方法。首先对干涉图像依次进行二值化处理,对所得到的条纹强度曲线进行均平滤波和自适应滤波,根据条纹灰度值强度余弦函数分布的特点,对条纹灰度值数据进行最小二乘法拟合,获得条纹强度峰值坐标,然后通过本文介绍的算法,进而获得Fabry-Perot干涉条纹圆心点的坐标。

  16. Manipulating the optical bistability at terahertz frequency in the Fabry-Perot cavity with graphene.

    Science.gov (United States)

    Jiang, Leyong; Guo, Jun; Wu, Leiming; Dai, Xiaoyu; Xiang, Yuanjiang

    2015-11-30

    We investigate theoretically the optical bistability from a Fabry-Perot cavity with graphene in the terahertz (THz) frequency. It is demonstrated that the optical bistablility in this cavity can be realized due to the electric field enhancement and the giant third-order nonlinear conductivity of graphene. The optical bistable behavior is strongly dependent on the transmission amplitude of the mirror and the position of the graphene in the cavity. It is especially important that the hysterical behaviors of the transmitted light rely on the optical conductivity of graphene, making the Fabry-Perot cavity to be a good candidate for dynamic tunable optical bistable device in the THz frequencies, owing to the possibility of high tunability of graphene conductivity by means of external electrostatic or magnetostatic field.

  17. 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.

  18. All-reflective Michelson, Sagnac, and Fabry-Perot interferometers based on grating beam splitters.

    Science.gov (United States)

    Sun, K X; Byer, R L

    1998-04-15

    All-reflective Michelson, Sagnac, and Fabry-Perot interferometers based on grating beam splitters are experimentally demonstrated at a wavelength of 1064 nm. A 1200-groove/mm grating diffracting 0 and -1 orders with an efficiency of 48.2% for each order was used as a near-50/50 beam splitter. The all-reflective Sagnac and Michelson interferometers were formed by reintroducing both of the diffracted beams back to the grating. The Fabry-Perot interferometer was formed in a Littrow configuration by using a 1700-groove/mm grating with a blazing efficiency of 91% as a cavity coupler. These interferometers encompass all the fundamental configurations of all-reflective laser interferometric gravitational-wave detectors, promising improved wave-front quality by avoiding volume thermal effects in transmissive optics under high-power laser illumination.

  19. Optical Analog-to-digital Conversion Scheme Based on Tunable Fabry-Perot Resonator

    Institute of Scientific and Technical Information of China (English)

    LI Zheng

    2007-01-01

    Proposed is an interference type of optical analog-to-digital conversion(ADC). The refractive index of Fabry-Perot cavity changes with different voltages. The Fabry-Perot resonator converts electronic intensity into light wavelength through selecting lights of different wavelengthes. The parameters of the scheme are acquired with the transmission matrix of optical element and the time of steady-state light field. The maximum sampling speedes of 4-bit, 6-bit, 7-bit, 8-bit and 9-bit(ADC) are 1.695×1010 count/s, 4.33×109 count/s, 2.38×109 count/s, 1.24×109 count/s and 5.9×108 count/s, respectively.

  20. Chronology of Fabry-Perot Interferometer Fiber-Optic Sensors and Their Applications: A Review

    Directory of Open Access Journals (Sweden)

    Md. Rajibul Islam

    2014-04-01

    Full Text Available Optical fibers have been involved in the area of sensing applications for more than four decades. Moreover, interferometric optical fiber sensors have attracted broad interest for their prospective applications in sensing temperature, refractive index, strain measurement, pressure, acoustic wave, vibration, magnetic field, and voltage. During this time, numerous types of interferometers have been developed such as Fabry-Perot, Michelson, Mach-Zehnder, Sagnac Fiber, and Common-path interferometers. Fabry-Perot interferometer (FPI fiber-optic sensors have been extensively investigated for their exceedingly effective, simple fabrication as well as low cost aspects. In this study, a wide variety of FPI sensors are reviewed in terms of fabrication methods, principle of operation and their sensing applications. The chronology of the development of FPI sensors and their implementation in various applications are discussed.