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Fabry disease

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https://www.readbyqxmd.com/read/28226362/ambulatory-arterial-stiffness-indexes-in-cushing-s-syndrome
#1
Marialberta Battocchio, Andrea Rebellato, Andrea Grillo, Francesca Dassie, Pietro Maffei, Stella Bernardi, Bruno Fabris, Renzo Carretta, Francesco Fallo
Long-standing exposure to endogenous cortisol excess is associated with high cardiovascular risk. The aim of our study was to investigate arterial stiffness, which has been recognized as an independent predictor of adverse cardiovascular outcome, in a group of patients with Cushing's syndrome. Twenty-four patients with Cushing's syndrome (3 males, mean age 49±13 years; 20 pituitary-dependent Cushing's disease and 4 adrenal adenoma) underwent 24-h ambulatory blood pressure monitoring (ABPM) and evaluation of cardiovascular risk factors...
February 22, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28225726/computer-assisted-retinal-vessel-tortuosity-evaluation-in-novel-mutation-fabry-disease-towards-new-prognostic-markers
#2
Irene San Román, María-Elena Rodríguez, Orsola Caporossi, Claudia Zoppetti, Andrea Sodi, Alessandro Mecocci, David López, Beatriz Rodríguez, Juan-Ramón Gimeno
PURPOSE: 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. METHODS: 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...
March 2017: Retina
https://www.readbyqxmd.com/read/28224082/clinical-characteristics-of-adult-patients-with-inborn-errors-of-metabolism-in-spain-a-review-of-500-cases-from-university-hospitals
#3
J Pérez-López, L Ceberio-Hualde, J S García-Morillo, J M Grau-Junyent, A Hermida Ameijeiras, M López-Rodríguez, J C Milisenda, M Moltó Abad, M Morales-Conejo, J J Nava Mateos
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28224042/a-new-mutation-found-in-newborn-screening-for-fabry-disease-evaluated-by-plasma-globotriaosylsphingosine-levels
#4
Yasutsugu Chinen, Sadao Nakamura, Tomohide Yoshida, Hiroki Maruyama, Kimitoshi Nakamura
A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28197106/inhibition-of-intermediate-conductance-calcium-activated-k-channel-kca3-1-and-fibroblast-mitogenesis-by-%C3%AE-linolenic-acid-and-alterations-of-channel-expression-in-the-lysosomal-storage-disorders-fabry-disease-and-niemann-pick-c
#5
Aida Oliván-Viguera, Javier Lozano-Gerona, Laura López de Frutos, Jorge J Cebolla, Pilar Irún, Edgar Abarca-Lachen, Ana J García-Malinis, Ángel Luis García-Otín, Yolanda Gilaberte, Pilar Giraldo, Ralf Köhler
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...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28178158/life-threatening-bleeding-from-gastric-mucosal-angiokeratomas-during-anticoagulation-a-case-report-of-fabry-disease
#6
Eungu Kang, Yoon-Myung Kim, Dae-Hee Kim, Han-Wook Yoo, Beom Hee Lee
RATIONALE: Angiokeratomas are the earliest manifestation of Fabry disease (FD), and the extent of their appearance is related to disease severity. Angiokeratomas are mostly found on cutaneous regions. PATIENT CONCERNS, DIAGNOSES, INTERVENTIONS, AND OUTCOMES: Here we report an FD patient with widespread gastrointestinal angiokeratomas who developed life-threatening bleeding following anticoagulation for atrial fibrillation. LESSONS: Careful observation for gastrointestinal bleeding is warranted for patients on anticoagulation with extensive cutaneous angiokeratomas...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28176508/a-structured-therapeutic-education-program-for-children-and-adolescents-with-type-1-diabetes-an-analysis-of-the-efficacy-of-the-pediatric-education-for-diabetes-project
#7
Alessandra Mauri, Susanna Schmidt, Valentina Sosero, Maria Sambataro, Laura Nollino, Francesco Fabris, Anna Corò, Antonella Scantamburlo, Michela Cazziola-Merlotto, Tania Ciani, Michele Tessarin, Agostino Paccagnella
BACKGROUND: Therapeutic education for Type 1 Diabetes involves the process of transmitting knowledge and developing the skills and behavior required to treat the disease. guidelines agree on stressing the importance of therapeutic educational intervention in teaching self-management skills to children and adolescents with Type 1 Diabetes (T1D). This study presents the results of the "Pediatric Education for Type 1 Diabetes (T1D)" (PED) project, specifically designed for children and adolescents aged 6 to 16, and structured on guidelines indications, as part of a broader clinical-educational intervention for Type 1 diabetes...
February 7, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28166746/a-comparison-of-central-nervous-system-involvement-in-patients-with-classical-fabry-disease-or-the-later-onset-subtype-with-the-ivs4-919g-a-mutation
#8
Han-Jui Lee, Ting-Rong Hsu, Sheng-Che Hung, Wen-Chung Yu, Tzu-Hung Chu, Chia-Feng Yang, Svetlana Bizjajeva, Chui-Mei Tiu, Dau-Ming Niu
BACKGROUND: Patients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations. METHODS: This was a retrospective analysis of magnetic resonance imaging (MRI) data from Taiwanese patients enrolled in the Fabry Outcome Survey (sponsored by Shire; data extracted March 2015)...
February 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28161408/anti-blys-antibody-reduces-the-immune-reaction-against-enzyme-and-enhances-the-efficacy-of-enzyme-replacement-therapy-in-fabry-disease-model-mice
#9
Yohei Sato, Hiroyuki Ida, Toya Ohashi
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...
February 2, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28158561/tetrahydrobiopterin-deficiency-in-the-pathogenesis-of-fabry-disease
#10
Jin-Song Shen, Erland Arning, Michael L West, Taniqua S Day, Shuyuan Chen, Xing-Li Meng, Sabrina Forni, Nathan McNeill, Ozlem Goker-Alpan, Xuan Wang, Paula Ashcraft, David F Moore, Seng H Cheng, Raphael Schiffmann, Teodoro Bottiglieri
No abstract text is available yet for this article.
February 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28157751/inherited-and-uncommon-causes-of-stroke
#11
Jennifer Juhl Majersik
PURPOSE OF REVIEW: This article is a practical guide to identifying uncommon causes of stroke and offers guidance for evaluation and management, even when large controlled trials are lacking in these rarer forms of stroke. RECENT FINDINGS: Fabry disease causes early-onset stroke, particularly of the vertebrobasilar system; enzyme replacement therapy should be considered in affected patients. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), often misdiagnosed as multiple sclerosis, causes migraines, early-onset lacunar strokes, and dementia...
February 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28157068/clinical-and-pathological-characteristics-of-fabry-disease-combined-with-iga-nephropathy-in-chinese-patients%C3%A2
#12
Nannan Yang, Xia Wang, Feng Xu, Caihong Zeng, Jinquan Wang, Zhihong Liu
AIMS: To improve diagnosis and treatment, we characterized Fabry disease combined with IgA nephropathy and its response to treatment clinically and pathologically in Chinese patients. MATERIALS AND METHODS: Clinical and pathological characteristics of 6 Chinese patients with renal biopsy-proven Fabry disease combined with IgA nephropathy were retrospectively analyzed. RESULTS: There were 4 males and 2 females in this study. All of the 6 patients presented with proteinuria...
February 3, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28152533/mild-left-ventricular-hypertrophy-unravels-a-novel-nonsense-mutation-of-the-gla-gene-associated-with-the-classical-phenotype-of-fabry-disease
#13
Olga Azevedo, Miguel Gago, Gabriel Miltenberger-Miltenyi, Paulo Gaspar, Nuno Sousa, Damião Cunha
We report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene, which occurs in the active site of the α-galactosidase A enzyme. This report highlights that (i) Fabry disease diagnosis should be considered in all cases of unexplained left ventricular hypertrophy (LVH), even in its milder forms; (ii) a complete evaluation of patients with unexplained LVH is important to find diagnostic red flags of treatable causes of LVH, such as Fabry disease; (iii) cascade family screening is paramount to the earlier diagnosis and treatment of other affected family members; and (iv) the Fabry disease phenotype is highly variable in heterozygote females, even within the same family...
February 3, 2017: Cardiology
https://www.readbyqxmd.com/read/28149664/when-arthralgia-is-not-arthritis
#14
Juan Politei, Graciela Remondino, Ricardo Heguilen, Eric Wallace, Consuelo Durand, Andrea Schenone
The presence of distal extremity pain in children and adolescents usually triggers the search of rheumatologic diseases without considering non-rheumatologic causes of joint pain. Approaching distal extremity pain with a complete differential diagnosis, including non-rheumatologic entities, may hasten diagnosis, thus decreasing cost and aiding in earlier initiation of appropriate therapy. To present a case of a patient who after years of work up of arthralgia, which was actually attributed to rheumatologic causes, had an inherited metabolic disease...
December 2016: European Journal of Rheumatology
https://www.readbyqxmd.com/read/28144400/cutting-edge-clinical-applications-in-cardiovascular-magnetic-resonance
#15
EDITORIAL
Carlo N De Cecco, Giuseppe Muscogiuri, Akos Varga-Szemes, U Joseph Schoepf
Today, the use of cardiovascular magnetic resonance (CMR) is widespread in clinical practice. The increased need to evaluate of subtle myocardial changes, coronary artery anatomy, and hemodynamic assessment has prompted the development of novel CMR techniques including T1 and T2 mapping, non-contrast angiography and four dimensional (4D) flow. T1 mapping is suitable for diagnosing pathologies affecting extracellular volume such as myocarditis, diffuse myocardial fibrosis and amyloidosis, and is a promising diagnostic tool for patients with iron overload and Fabry disease...
January 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28126747/basilar-artery-changes-in-fabry-disease
#16
R Manara, R Y Carlier, S Righetto, V Citton, G Locatelli, F Colas, M Ermani, D P Germain, A Burlina
BACKGROUND AND PURPOSE: Dolichoectasia of the basilar artery is a characteristic finding of Fabry disease. However, its prevalence, severity, and course have been poorly studied. This study quantitatively evaluated, by MRA, a panel of basilar artery parameters in a large cohort of patients with Fabry disease. MATERIALS AND METHODS: Basilar artery mean diameter, curved length, "origin-to-end" linear distance (linear length), and tortuosity index ([curved length ÷ linear length] - 1) were retrospectively measured on 1...
January 26, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28116130/glycosphingolipid-storage-in-fabry-mice-extends-beyond-globotriaosylceramide-and-is-affected-by-abcb1-depletion
#17
Mustafa A Kamani, Philippe Provençal, Michel Boutin, Natalia Pacienza, Xin Fan, Anton Novak, Tonny C Huang, Beth Binnington, Bryan C Au, Christiane Auray-Blais, Clifford A Lingwood, Jeffrey A Medin
AIM: Fabry disease is caused by α-galactosidase A deficiency leading to accumulation of globotriaosylceramide (Gb3) in tissues. Clinical manifestations do not appear to correlate with total Gb3 levels. Studies examining tissue distribution of specific acyl chain species of Gb3 and upstream glycosphingolipids are lacking. MATERIAL & METHODS/RESULTS: Thorough characterization of the Fabry mouse sphingolipid profile by LC-MS revealed unique Gb3 acyl chain storage profiles...
December 2016: Future Science OA
https://www.readbyqxmd.com/read/28112739/acquired-cyp19a1-amplification-is-an-early-specific-mechanism-of-aromatase-inhibitor-resistance-in-er%C3%AE-metastatic-breast-cancer
#18
Luca Magnani, Gianmaria Frigè, Raffaella Maria Gadaleta, Giacomo Corleone, Sonia Fabris, Hermannus Kempe, Pernette J Verschure, Iros Barozzi, Valentina Vircillo, Sung-Pil Hong, Ylenia Perone, Massimo Saini, Andreas Trumpp, Giuseppe Viale, Antonino Neri, Simak Ali, Marco Angelo Colleoni, Giancarlo Pruneri, Saverio Minucci
Tumor evolution is shaped by many variables, potentially involving external selective pressures induced by therapies. After surgery, patients with estrogen receptor (ERα)-positive breast cancer are treated with adjuvant endocrine therapy, including selective estrogen receptor modulators (SERMs) and/or aromatase inhibitors (AIs). However, more than 20% of patients relapse within 10 years and eventually progress to incurable metastatic disease. Here we demonstrate that the choice of therapy has a fundamental influence on the genetic landscape of relapsed diseases...
January 23, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28111240/efficiency-of-autologous-stem-cell-collection-comparison-of-three-different-cell-separators
#19
REVIEW
Véronique Deneys, Annick Fabry, Maryse Van Hooydonk, Anne Sonet, Marc André, Marc Bourgeois, Françoise Botson
Peripheral blood progenitor cells (PBPC) infusion allows rapid haematological recovery after high dose chemotherapy. Efficient PBPC collection is therefore essential as rescue therapy for transplantation. In order to validate a new equipment (ComTec(®), Fresenius Kabi), we compared the efficiency of three cell separators for PBPC collection in patients with haematological malignant diseases. From June 2014 to December 2015, 83 PBPC were collected in 48 patients. Three aphaeresis machines were used: Cobe Spectra(®) (Terumo BCT, 11), Amicus(®) (Fenwall, 30), and ComTec(®) (Fresenius Kabi, 42)...
December 30, 2016: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28108302/biomarkers-associated-with-clinical-manifestations-in-fabry-disease-patients-with-a-late-onset-cardiac-variant-mutation
#20
Christiane Auray-Blais, Pamela Lavoie, Michel Boutin, Aimé Ntwari, Ting-Rong Hsu, Chun-Kai Huang, Dau-Ming Niu
BACKGROUND: Fabry disease is a lysosomal storage disorder with an incidence of 1:1600 for the late-onset IVS4+919G>A cardiac variant mutation in Taiwan. Signs and symptoms of this cardiac variant include left ventricular hypertrophy, mitral insufficiency and/or arrhythmias. The search for biomarkers that might predict the clinical outcomes and guide treatment options is important. We thus investigated relationships between Fabry disease biomarkers (such as globotriaosylceramide (Gb3), globotriaosylsphingosine (lyso-Gb3)/related analogues) and age, gender, enzyme activity, clinical manifestations and severity of the disease in these patients...
January 18, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
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