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Fabry's disease guidelines

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
Maarten Arends, Christoph Wanner, Derralynn Hughes, Atul Mehta, Daniel Oder, Oliver T Watkinson, Perry M Elliott, Gabor E Linthorst, Frits A Wijburg, Marieke Biegstraaten, Carla E Hollak
Fabry disease leads to renal, cardiac, and cerebrovascular manifestations. Phenotypic differences between classically and nonclassically affected patients are evident, but there are few data on the natural course of classical and nonclassical disease in men and women. To describe the natural course of Fabry disease stratified by sex and phenotype, we retrospectively assessed event-free survival from birth to the first clinical visit (before enzyme replacement therapy) in 499 adult patients (mean age 43 years old; 41% men; 57% with the classical phenotype) from three international centers of excellence...
December 15, 2016: Journal of the American Society of Nephrology: JASN
Thomas Sené, Olivier Lidove, Joel Sebbah, Jean-Marc Darondel, Hervé Picard, Laurent Aaron, Olivier Fain, Thierry Zenone, Dominique Joly, Philippe Charron, Jean-Marc Ziza
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...
October 2016: Medicine (Baltimore)
Malte Lenders, Julia B Hennermann, Christine Kurschat, Arndt Rolfs, Sima Canaan-Kühl, Claudia Sommer, Nurcan Üçeyler, Christoph Kampmann, Nesrin Karabul, Anne-Katrin Giese, Thomas Duning, Jörg Stypmann, Johannes Krämer, Frank Weidemann, Stefan-Martin Brand, Christoph Wanner, Eva Brand
BACKGROUND: The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines. METHODS: Between 10/2008 and 12/2014, data from the most recent visit of 261 adult female FD patients from six German Fabry centers were retrospectively analyzed. Clinical presentation and laboratory data, including plasma lyso-Gb3 levels were assessed. RESULTS: Fifty-five percent of females were on enzyme replacement therapy (ERT), according to recent European FD guidelines...
June 29, 2016: Orphanet Journal of Rare Diseases
Kuan-Hsuan Chen, Yueh Chien, Kang-Ling Wang, Hsin-Bang Leu, Chen-Yuan Hsiao, Ying-Hsiu Lai, Chien-Ying Wang, Yuh-Lih Chang, Shing-Jong Lin, Dau-Ming Niu, Shih-Hwa Chiou, Wen-Chung Yu
BACKGROUND: Fabry disease (FD) causes progressive glycosphingolipid accumulation and damage in various organs, and several proinflammatory processes may be involved in this disease. Enzyme replacement therapy (ERT) can reduce the severity of Fabry cardiomyopathy (FC), but whether ERT could attenuate proinflammatory cytokines in FC remains unclear. In this study, we attempted to evaluate the efficacy of ERT on proinflammatory cytokines and vascular cell adhesion biomarkers. METHODS: We enrolled 25 patients with FC and administered ERT to them according to the present clinical guideline...
November 10, 2015: Canadian Journal of Cardiology
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazabal Herrero, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M Mar O'Callaghan, Mercedes Casado, Raquel Montero, Silvia Maria Meavilla Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I Dali, Francesca D'Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa, Ángels Garcia-Cazorla
BACKGROUND: Inherited neurometabolic disorders (iNMDs) represent a group of almost seven hundred rare diseases whose common manifestations are clinical neurologic or cognitive symptoms that can appear at any time, in the first months/years of age or even later in adulthood. Early diagnosis and timely treatments are often pivotal for the favorable course of the disease. Thus, the elaboration of new evidence-based recommendations for iNMD diagnosis and management is increasingly requested by health care professionals and patients, even though the methodological quality of existing guidelines is largely unclear...
2015: Orphanet Journal of Rare Diseases
Federico Pieruzzi, Maurizio Pieroni, Elisabetta Zachara, Nicola Marziliano, Amelia Morrone, Franco Cecchi
Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. It is characterized by a multisystemic involvement: the renal, neurological, heart, cochleovestibular and cutaneous systems are the most damaged. Morbidity and mortality of Anderson-Fabry disease depend on renal insufficiency, heart failure and nervous system involvement. Left ventricular hypertrophy is the most common cardiac manifestation followed by conduction system disease, valve dysfunction, and arrhythmias...
November 2015: Giornale Italiano di Cardiologia
Robert J Hopkin, John L Jefferies, Dawn A Laney, Victoria H Lawson, Michael Mauer, Matthew R Taylor, William R Wilcox
Fabry disease is an inherited X-linked disorder that presents during childhood in male and female patients. Young patients may initially experience pain, hypohidrosis, and gastrointestinal symptoms. Other manifestations of Fabry disease, such as renal and cardiac disease, manifest later in adolescence or adulthood. In the pediatric population, renal damage is typically subclinical and identifiable only through biopsy. Specialists from the United States with expertise in Fabry disease convened during 2013-2014 in order to develop these consensus guidelines about the management and treatment of children with Fabry disease...
February 2016: Molecular Genetics and Metabolism
Vanja Bašić Kes, Marijan Cesarik, Iris Zavoreo, Silva Soldo Butković, Petar Kes, Nikolina Bašić-Jukić, Sanjin Rački, Marko Jakić, Diana Delić-Brkljačić, Zlatica Jukić, Zlatko Trkanjec, Vesna Šerić, Vesna Vargek Solter, Ivan Bielen, Silvio Bašić, Vida Demarin
Fabry disease (Anderson-Fabry disease) is one of the most common lysosomal storage diseases (after Gaucher disease) caused by deficient activity of the α-galactosidase A (α-Gal A) enzyme, which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with multisystem clinical manifestations. Estimates of the incidence range from one per 40,000 to 60,000 in males, and 1:117,000 in the general population. Pain is usually the first symptom and is present in 60%-80% of affected children, as well as gastrointestinal disturbances, ophthalmologic abnormalities and hearing loss...
April 2014: Acta Medica Croatica: C̆asopis Hravatske Akademije Medicinskih Znanosti
Charlotte M Niemeyer, Mignon L Loh, Annamaria Cseh, Todd Cooper, Christopher C Dvorak, Rebecca Chan, Blanca Xicoy, Ulrich Germing, Seiji Kojima, Atsushi Manabe, Michael Dworzak, Barbara De Moerloose, Jan Starý, Owen P Smith, Riccardo Masetti, Albert Catala, Eva Bergstraesser, Marek Ussowicz, Oskana Fabri, André Baruchel, Hélène Cavé, Michel Zwaan, Franco Locatelli, Henrik Hasle, Marry M van den Heuvel-Eibrink, Christian Flotho, Ayami Yoshimi
Juvenile myelomonocytic leukemia is a rare myeloproliferative disease in young children. While hematopoietic stem cell transplantation remains the only curative therapeutic option for most patients, children with juvenile myelomonocytic leukemia increasingly receive novel agents in phase I-II clinical trials as pre-transplant therapy or therapy for relapse after transplantation. However, response criteria or definitions of outcome for standardized evaluation of treatment effect in patients with juvenile myelomonocytic leukemia are currently lacking...
January 2015: Haematologica
Eefje B Suntjens, Bouwien E Smid, Marieke Biegstraaten, Wouter A Dreschler, Carla E M Hollak, Gabor E Linthorst
INTRODUCTION: Data on prevalence, natural history, and effect of enzyme replacement therapy (ERT) on hearing loss (HL) in Fabry disease (FD) are scarce. METHODS: This is a retrospective study with cross-sectional and longitudinal analyses. Low and high-frequency HL in the Dutch FD cohort was studied in four groups: classical and non-classical FD patients with or without ERT. To study effects of ERT, longitudinal data, corrected for age and gender according to ISO-1999 guidelines, were analyzed with mixed models...
March 2015: Journal of Inherited Metabolic Disease
Marijan Merkler, Ivan Pećin, Iveta Simić, Diana Muacević-Katanec, Nediljko Sućur, Zeljko Reiner
Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with Fabry disease. These guidelines were produced by the staff of the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb, which is the Referral Expert Center for Rare and Metabolic Diseases of the Ministry of Health, Republic of Croatia...
May 2014: Lijec̆nic̆ki Vjesnik
Rima El-Abassi, Divya Singhal, John D England
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A. The abnormal accumulation of glycosphingolipids, primarily globotriaosylceramide, manifests as serious and progressive impairment of renal and cardiac functions. In addition, patients experience pain, gastrointestinal disturbance, transient ischemic attacks and strokes. Disease presentation in female heterozygotes may be as severe as in males although women may also remain asymptomatic...
September 15, 2014: Journal of the Neurological Sciences
Orestis G Andriotis, Wiparat Manuyakorn, Jurgita Zekonyte, Orestis L Katsamenis, Sebastien Fabri, Peter H Howarth, Donna E Davies, Philipp J Thurner
The nanomechanical assessment of collagen fibrils via atomic force microscopy (AFM) is of increasing interest within the biomedical research community. In contrast to conventional nanoindentation there exists no common standard for conducting experiments and analysis of data. Currently used analysis approaches vary between studies and validation of quantitative results is usually not performed, which makes comparison of data from different studies difficult. Also there are no recommendations with regards to the maximum indentation depth that should not be exceeded to avoid substrate effects...
November 2014: Journal of the Mechanical Behavior of Biomedical Materials
Johannes Krämer, Markus Niemann, Stefan Störk, Stefan Frantz, Meinrad Beer, Georg Ertl, Christoph Wanner, Frank Weidemann
The aim of this study was to investigate the impact of myocardial fibrosis in Fabry disease. Seventy-three patients with genetically confirmed Fabry disease were followed for 4.8 ± 2.4 years. In accordance with current guidelines, 57 patients received enzyme replacement therapy (ERT) after study inclusion, whereas 16 did not. At baseline and latest possible follow-up, myocardial fibrosis was assessed noninvasively by cardiac magnetic resonance, and biomarkers of collagen metabolism were determined. Holter electrocardiography and clinical follow-up at yearly intervals were used to monitor malignant ventricular arrhythmias (MVAs; nonsustained and sustained ventricular tachycardia and sudden cardiac death)...
September 15, 2014: American Journal of Cardiology
Salvatore Gizzo, Alberta Fabris, Pietro Litta, Carlo Saccardi
The adequate treatment for stage IB endometrial cancer (EC) with G1-G2 grading (intermediate risk patients) is still debated. FIGO guidelines recommend adjuvant radio-therapy in order to avoid recurrences, despite it has been demonstrated that this does not improve the overall survival. Recently, other than the conventional risk-factor (histology, stage and grading), lymph-vascular involvement, tumor size and neoplasia molecular patterns has been proposed with intent to establish the most appropriated EC oncologic treatment and prognosis...
2014: International Journal of Clinical and Experimental Pathology
Toru Kubo
No abstract text is available yet for this article.
February 10, 2014: Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine
Vanja Basić Kes, Marijan Cesarik, Iris Zavoreo, Silva Soldo-Butković, Petar Kes, Nikolina Basić-Jukić, Sanjin Racki, Marko Jakić, Diana Delić-Brkljacić, Zlatica Jukić, Zlatko Trkanjec, Vesna Serić, Vesna Vargek Solter, Ivan Bielen, Silvio Basić, Vida Demarin
Fabry disease (Anderson-Fabry disease) is one of the most common lysosomal storage diseases (after Gaucher disease) caused by deficient activity of the alpha-galactosidase A (alpha-Gal A) enzyme, which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with multisystem clinical manifestations. Estimates of the incidence range from one per 40,000 to 60,000 in males, and 1:117,000 in the general population. Pain is usually the first symptom and is present in 60%-80% of affected children, as well as gastrointestinal disturbances, ophthalmologic abnormalities and hearing loss...
September 2013: Acta Clinica Croatica
S M Sirrs, D G Bichet, R Casey, J T R Clarke, K Lemoine, S Doucette, M L West
BACKGROUND: The Canadian Fabry disease initiative (CFDI) tracks outcomes of subjects with Fabry disease treated enzyme replacement therapy (ERT) given to subjects who meet evidence-based treatment guidelines and cardiovascular risk factor modification. METHODS: We report 5 year follow-up data on 362 subjects for a composite endpoint (death, neurologic or cardiovascular events, development of end-stage renal disease or sustained increase in serum creatinine of 50% from baseline)...
April 2014: Molecular Genetics and Metabolism
Saskia M Rombach, Bouwien E Smid, Gabor E Linthorst, Marcel G W Dijkgraaf, Carla E M Hollak
OBJECTIVE: Current available evidence on long-term effectiveness of enzyme replacement therapy (ERT) for Fabry disease is limited. More insight is needed whether ERT effectiveness differs in patients with and without baseline end-organ damage. DESIGN: Through a systematic review, untreated and ERT treated males and females with Fabry disease were compared for main clinical outcomes: renal function, left ventricular mass (LVmass), cerebral white matter lesions (WMLs) and end-organ complications...
May 2014: Journal of Inherited Metabolic Disease
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