keyword
MENU ▼
Read by QxMD icon Read
search

Fabris

keyword
https://www.readbyqxmd.com/read/28102335/erratum-measuring-the-complex-optical-conductivity-of-graphene-by-fabry-p%C3%A3-rot-reflectance-spectroscopy
#1
Behnood G Ghamsari, Jacob Tosado, Mahito Yamamoto, Michael S Fuhrer, Steven M Anlage
No abstract text is available yet for this article.
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28100976/ventricular-tachycardia-in-fabry-disease-detected-in-a-50-year-old-woman-during-14-day-continuous-cardiac-monitoring
#2
Jaime Silva-Gburek, Laura Rochford, Robert Hopkin, John L Jefferies
Fabry disease is an X-linked lysosomal storage disorder. Female carriers were long thought to be asymptomatic; however, research has revealed the opposite. Cardiac conditions are the chief causes of death in women with Fabry disease. Although ventricular tachycardia has been reported in male patients with Fabry disease, it is not thought to be a frequent finding in females. We describe the case of a 50-year-old woman in whom we used 14-day continuous electrocardiographic monitoring to identify nonsustained ventricular tachycardia, after electrocardiograms and 24-hour Holter monitoring failed to detect the arrhythmia...
December 2016: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28098760/autocrine-and-paracrine-mechanisms-promoting-chemoresistance-in-cholangiocarcinoma
#3
REVIEW
Massimiliano Cadamuro, Simone Brivio, Carlo Spirli, Ruth E Joplin, Mario Strazzabosco, Luca Fabris
Resistance to conventional chemotherapeutic agents, a typical feature of cholangiocarcinoma, prevents the efficacy of the therapeutic arsenal usually used to combat malignancy in humans. Mechanisms of chemoresistance by neoplastic cholangiocytes include evasion of drug-induced apoptosis mediated by autocrine and paracrine cues released in the tumor microenvironment. Here, recent evidence regarding molecular mechanisms of chemoresistance is reviewed, as well as associations between well-developed chemoresistance and activation of the cancer stem cell compartment...
January 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28098348/impact-of-lysosomal-storage-disorders-on-biology-of-mesenchymal-stem-cells-evidences-from-in-vitro-silencing-of-glucocerebrosidase-gba-and-alpha-galactosidase-a-gla-enzymes
#4
T Squillaro, I Antonucci, N Alessio, A Esposito, M Cipollaro, Mab Melone, G Peluso, L Stuppia, U Galderisi
Lysosomal storage disorders (LDS) comprise a group of rare multisystemic diseases resulting from inherited gene mutations that impair lysosomal homeostasis. The most common LSDs, Gaucher disease (GD) and Fabry disease (FD) are caused by deficiencies in the lysosomal glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes, respectively. Given the systemic nature of enzyme deficiency, we hypothesized that the stem cell compartment of GD and FD patients might be also affected. Among stem cells, mesenchymal stem cells (MSCs) are a commonly investigated population given their role in hematopoiesis and the homeostatic maintenance of many organs and tissues...
January 18, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28098320/versatile-tissue-lasers-based-on-high-q-fabry-p%C3%A3-rot-microcavities
#5
Yu-Cheng Chen, Qiushu Chen, Tingting Zhang, Wenjie Wang, Xudong Fan
Biolasers are an emerging technology for next generation biochemical detection and clinical applications. Progress has recently been made to achieve lasing from biomolecules and single living cells. Tissues, which consist of cells embedded in an extracellular matrix, mimic more closely the actual complex biological environment in a living body and therefore are of more practical significance. Here, we developed a highly versatile tissue laser platform, in which tissues stained with fluorophores are sandwiched in a high-Q Fabry-Pérot microcavity...
January 18, 2017: Lab on a Chip
https://www.readbyqxmd.com/read/28098252/flexible-and-wavelength-selective-mos2-phototransistors-with-monolithically-integrated-transmission-color-filters
#6
Geonwook Yoo, Sol Lea Choi, Sang Jin Park, Kyu-Tae Lee, Sanghyun Lee, Min Suk Oh, Junseok Heo, Hui Joon Park
Color-selective or wavelength-tunable capability is a crucial feature for two-dimensional (2-D) semiconducting material-based image sensor applications. Here, we report on flexible and wavelength-selective molybdenum disulfide (MoS2) phototransistors using monolithically integrated transmission Fabry-Perot (F-P) cavity filters. The fabricated multilayer MoS2 phototransistors on a polyarylate substrate exhibit decent electrical characteristics (μFE > 64.4 cm(2)/Vs, on/off ratio > 10(6)), and the integrated F-P filters, being able to cover whole visible spectrum, successfully modulate the spectral response characteristics of MoS2 phototransistors from ~495 nm (blue) to ~590 nm (amber)...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28097762/time-delays-in-the-diagnosis-and-treatment-of-fabry-disease
#7
Ricardo Reisin, Amandine Perrin, Pablo García-Pavía
BACKGROUND: The high variability in clinical manifestations of Fabry disease can lead to delays between symptom onset and correct diagnosis, and between correct diagnosis and initiation of enzyme replacement therapy. We investigated whether these delays have improved in recent years. METHODS: Data were analysed from the Fabry Outcome Survey (FOS; Shire; extracted August 2013) for "index patients", defined as the first patient diagnosed with Fabry disease from a family with several or no additional members registered in FOS...
January 2017: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/28094225/-oral-methadone-for-the-management-of-difficult-to-control-pain-in-fabry-disease
#8
Moisés Leyva Carmona, Sara Gómez Bueno, Lucia Ruiz Tudela, Javier Aguirre Rodríguez, Fernando Sanchez
No abstract text is available yet for this article.
January 13, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28090261/fabry-disease-presenting-with-hypertrophic-cardiomyopathy-and-tricuspid-regurgitation
#9
Sang-Cheol Cho, Han-Wook Yoo, Jae Won Lee, Jeong Yoon Jang, Ran Heo, Jong-Min Song
A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspnea and severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operation and right atrial reduction plasty was performed. During follow-up after cardiac surgery, a plasma α-galactosidase activity was checked for the screening of Fabry disease and the result was around lower normal limit. DNA analysis was implemented for confirmation and it revealed a heterozygote α-galactosidase mutation at exon 6 [c...
December 2016: Journal of Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/28089753/simultaneous-quantitation-of-sphingoid-bases-by-uplc-esi-ms-ms-with-identical-13-c-encoded-internal-standards
#10
M Mirzaian, P Wisse, M J Ferraz, A R A Marques, P Gaspar, S V Oussoren, K Kytidou, J D C Codée, G van der Marel, H S Overkleeft, J M Aerts
Free sphingoid bases (lysosphingolipids) of primary storage sphingolipids are increased in tissues and plasma of several sphingolipidoses. As shown earlier by us, sphingoid bases can be accurately quantified using UPLC-ESI-MS/MS, particularly in combination with identical (13)C-encoded internal standards. The feasibility of simultaneous quantitation of sphingoid bases in plasma specimens spiked with a mixture of such standards is here described. The sensitivity and linearity of detection is excellent for all examined sphingoid bases (sphingosine, sphinganine, hexosyl-sphingosine (glucosylsphingosine), hexosyl2-sphingosine (lactosylsphingosine), hexosyl3-sphingosine (globotriaosylsphingosine), phosphorylcholine-sphingosine) in the relevant concentration range and the measurements show very acceptable intra- and inter-assay variation (<10% average)...
January 12, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28088807/posterior-versus-anterior-circulation-stroke-in-young-adults-a-comparative-study-of-stroke-aetiologies-and-risk-factors-in-stroke-among-young-fabry-patients-sifap1
#11
Bettina von Sarnowski, Ulf Schminke, Ulrike Grittner, Christian Tanislav, Tobias Böttcher, Michael G Hennerici, Turgut Tatlisumak, Jukka Putaala, Manfred Kaps, Franz Fazekas, Christian Enzinger, Arndt Rolfs, Christof Kessler
BACKGROUND: Although 20-30% of all strokes occur in the posterior circulation, few studies have explored the characteristics of patients with strokes in the posterior compared to the anterior circulation so far. Especially data on young patients is missing. METHODS: In this secondary analysis of data of the prospective multi-centre European sifap1 study that investigated stroke and transient ischemic attack (TIA) patients aged 18-55 years, we compared vascular risk factors, stroke aetiology, presence of white matter hyperintensities (WMH) and cerebral microbleeds (CMB) between patients with ischaemic posterior circulation stroke (PCS) and those having suffered from anterior circulation stroke (ACS) based on cerebral MRI...
January 14, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28088251/lucerastat-an-iminosugar-with-potential-as-substrate-reduction-therapy-for-glycolipid-storage-disorders-safety-tolerability-and-pharmacokinetics-in-healthy-subjects
#12
N Guérard, O Morand, J Dingemanse
BACKGROUND: Lucerastat, an inhibitor of glucosylceramide synthase, has the potential to restore the balance between synthesis and degradation of glycosphingolipids in glycolipid storage disorders such as Gaucher disease and Fabry disease. The safety, tolerability, and pharmacokinetics of oral lucerastat were evaluated in two separate randomized, double-blind, placebo-controlled, single- and multiple-ascending dose studies (SAD and MAD, respectively) in healthy male subjects. METHODS: In the SAD study, 31 subjects received placebo or a single oral dose of 100, 300, 500, or 1000 mg lucerastat...
January 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28087245/the-severe-clinical-phenotype-for-a-heterozygous-fabry-female-patient-correlates-to-the-methylation-of-non-mutated-allele-associated-with-chromosome-10q26-deletion-syndrome
#13
Mohammad Arif Hossain, Hiroko Yanagisawa, Takashi Miyajima, Chen Wu, Ayumi Takamura, Keiko Akiyama, Rina Itagaki, Kaoru Eto, Takeo Iwamoto, Takayuki Yokoi, Kenji Kurosawa, Hironao Numabe, Yoshikatsu Eto
Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Her paternal uncle had chronic renal failure and intellectual disability, and her paternal aunt was affected with congestive cardiac failure...
January 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28087010/breaking-the-ice-urine-proteomics-of-medullary-sponge-kidney-disease
#14
Somchai Chutipongtanate
Urinary proteomics is a promising tool for biomarker investigation, particularly in complex kidney diseases. Fabris and colleagues report that urinary laminin subunit alpha-2 is a potential diagnostic marker of medullary sponge kidney (MSK) disease by using a label-free quantitative proteomics platform and a clinically compatible enzyme-linked immunosorbent assay. The neglected issue of stone pathogenesis was also evidenced. This commentary discusses several considerations in biomarker validation, and how urinary proteomics breaks new ground in MSK research...
February 2017: Kidney International
https://www.readbyqxmd.com/read/28081172/influence-of-corneal-opacity-on-intraocular-pressure-assessment-in-patients-with-lysosomal-storage-diseases
#15
Joanna Wasielica-Poslednik, Giuseppe Politino, Irene Schmidtmann, Katrin Lorenz, Katharina Bell, Norbert Pfeiffer, Susanne Pitz
AIMS: To investigate an influence of mucopolysaccharidosis (MPS)- and Morbus Fabry-associated corneal opacities on intraocular pressure (IOP) measurements and to evaluate the concordance of the different tonometry methods. METHODS: 25 MPS patients with or without corneal clouding, 25 Fabry patients with cornea verticillata ≥ grade 2 and 25 healthy age matched controls were prospectively included into this study. Outcome measures: Goldmann applanation tonometry (GAT); palpatory assessment of IOP; Goldmann-correlated intraocular pressure (IOPg), corneal-compensated intraocular pressure (IOPcc), corneal resistance factor (CRF) and corneal hysteresis (CH) assessed by Ocular Response Analyzer (ORA); central corneal thickness (CCT) and density assessed with Pentacam...
2017: PloS One
https://www.readbyqxmd.com/read/28081083/molecular-dispersion-spectroscopy-based-on-fabry-perot-quantum-cascade-lasers
#16
Lukasz A Sterczewski, Jonas Westberg, Gerard Wysocki
Two Fabry-Perot quantum cascade lasers are used in a differential dual comb configuration to perform rapidly swept dispersion spectroscopy of low-pressure nitrous oxide with <1  ms acquisition time. Active feedback control of the laser injection current enables simultaneous wavelength modulation of both lasers at kilohertz rates. The system demonstrates similar performance in both absorption and dispersion spectroscopy modes and achieves a noise-equivalent absorption figure of merit in the low 10<sup>-4</sup>/Hz range...
January 15, 2017: Optics Letters
https://www.readbyqxmd.com/read/28079663/general-anesthesia-and-fabry-disease-a-case-report
#17
Stefan Krüger, Albina Nowak, Torben Christoph Müller
Fabry disease is an inherited X-linked disorder characterized by the absence (in men) or deficiency (in women) in α-galactosidase A activity that causes a progressive accumulation of glycosphingolipids within lysosomes of cells of all the major organ systems. The subsequent organ damage that manifests in childhood and early adulthood presents a widely variable clinical picture of pain, hypertension, and cardiac, renal, nervous system, and lung dysfunction. We present 2 female patients with Fabry disease who required general anesthesia twice for gynecological and trauma surgery, respectively, and discuss their perioperative management based on new information in the medical literature...
January 11, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28075357/correlations-between-endomyocardial-biopsies-and-cardiac-manifestations-in-taiwanese-patients-with-the-chinese-hotspot-ivs4-919g-a-mutation-data-from-the-fabry-outcome-survey
#18
Ting-Rong Hsu, Fu-Pang Chang, Tzu-Hung Chu, Shih-Hsien Sung, Svetlana Bizjajeva, Wen-Chung Yu, Dau-Ming Niu
We retrospectively evaluated correlations between cardiac manifestations and globotriaosylceramide (Gb3) accumulation in cardiomyocytes from Taiwanese patients with Fabry disease and the IVS4+919G>A (IVS4) mutation who underwent endomyocardial biopsy (Shire; Fabry Outcome Survey data; extracted January 2015). Of 24 males and six females (median age [Q1; Q3] at biopsy 60.4 [57.4; 64.1] and 61.3 [60.4; 65.1] years, respectively), 13 males (54.2%) and five females (83.3%) received agalsidase alfa enzyme replacement therapy (ERT) before biopsy...
January 9, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28074480/clonal-reticulohistiocytosis-of-the-skin-and-bone-marrow-associated-with-systemic-mastocytosis-and-acute-myeloid-leukaemia
#19
Nicola Fusco, Arturo Bonometti, Claudia Augello, Sonia Fabris, Leonardo Boiocchi, Stefano Fiori, Denise Morotti, Nicola Fracchiolla, Emilio Berti, Umberto Gianelli
AIMS: The aims of this study were to define whether diffuse cutaneous reticulohistiocytosis could be underpinned by somatic genetic alterations and represent precursor to more aggressive forms of disease. METHODS AND RESULTS: A 59-year-old man with diffuse cutaneous reticulohistiocytosis, experienced bone marrow localisation of the disease, with associated systemic mastocytosis and acute myeloid leukaemia. Cytogenetic analyses of the bone marrow aspirate revealed the presence of a derivative chromosome giving rise to a partial trisomy of chromosome 1q and a partial monosomy of chromosome 9q...
January 11, 2017: Histopathology
https://www.readbyqxmd.com/read/28073274/quantum-dots-embedded-in-graphene-nanoribbons-by-chemical-substitution
#20
Eduard Carbonell-Sanromà, Pedro Brandimarte, Richard Balog, Martina Corso, Shigeki Kawai, Aran Garcia-Lekue, Shohei Saito, Shigehiro Yamaguchi, Ernst Meyer, Daniel Sánchez-Portal, Jose Ignacio Pascual
Bottom-up chemical reactions of selected molecular precursors on a gold surface can produce high quality graphene nanoribbons (GNRs). Here, we report on the formation of quantum dots embedded in an armchair GNR by substitutional inclusion of pairs of boron atoms into the GNR backbone. The boron inclusion is achieved through the addition of a small amount of boron substituted precursors during the formation of pristine GNRs. In the pristine region between two boron pairs, the nanoribbons show a discretization of their valence band into confined modes compatible with a Fabry-Perot resonator...
January 11, 2017: Nano Letters
keyword
keyword
55602
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

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

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

Use quotes to search for an exact phrase

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