keyword
MENU ▼
Read by QxMD icon Read
search

Fabry disease

keyword
https://www.readbyqxmd.com/read/28813699/t1-and-t2-mapping-in-cardiology-mapping-the-obscure-object-of-desire
#1
Sophie Mavrogeni, Dimitris Apostolou, Panayiotis Argyriou, Stella Velitsista, Lilika Papa, Stelios Efentakis, Evangelos Vernardos, Mikela Kanoupaki, George Kanoupakis, Athanassios Manginas
The increasing use of cardiovascular magnetic resonance (CMR) is based on its capability to perform biventricular function assessment and tissue characterization without radiation and with high reproducibility. The use of late gadolinium enhancement (LGE) gave the potential of non-invasive biopsy for fibrosis quantification. However, LGE is unable to detect diffuse myocardial disease. Native T1 mapping and extracellular volume fraction (ECV) provide knowledge about pathologies affecting both the myocardium and interstitium that is otherwise difficult to identify...
August 17, 2017: Cardiology
https://www.readbyqxmd.com/read/28808181/screening-of-fabry-disease-in-patients-with-end-stage-renal-disease-of-unknown-etiology-the-first-thailand-study
#2
Objoon Trachoo, Paisan Jittorntam, Sarunpong Pibalyart, Saowanee Kajanachumphol, Norasak Suvachittanont, Suthep Patputthipong, Piyatida Chuengsaman, Arkom Nongnuch
We aimed to explore the prevalence of Fabry disease in Thai patients who were diagnosed with end-stage renal disease (ESRD) of an unknown origin. Venous blood samples were collected from ESRD patients for biochemical and molecular studies. Alpha-galactosidase A (α-GAL A) screening was performed from dried-blood spots using fluorometry. Molecular confirmation was performed using DNA sequencing of the GLA gene. A total of 142 male and female patients were included in this study. Ten patients (7.04%) exhibited a significant decrease in α-GAL A activity...
October 17, 2016: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28799081/the-psychosocial-impact-of-carrying-a-debated-variant-in-the-gla-gene
#3
Sarah Macklin, Dawn Laney, Emily Lisi, Andrea Atherton, Elizabeth Smith
The clinical significance of the c.427G>A (p.A143T) variant in GLA is a topic of debate within the lysosomal storage disease community. A review of the literature and published case reports found the clinical impact of the variant to range from classic Fabry symptoms to healthy unaffected males with normal alpha- galactosidase enzyme levels, leaving clinicians unsure of how to manage these individuals. As the number of states testing for Fabry disease on their newborn screening panel has increased, more people with this variant are being identified...
August 10, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28798027/fabry-disease-a-rare-condition-emerging-from-the-darkness
#4
EDITORIAL
Perry M Elliott
No abstract text is available yet for this article.
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28798024/fabry-disease-in-families-with-hypertrophic-cardiomyopathy-clinical-manifestations-in-the-classic-and-later-onset-phenotypes
#5
Berglind Adalsteinsdottir, Runolfur Palsson, Robert J Desnick, Marianna Gardarsdottir, Polakit Teekakirikul, Martin Maron, Evan Appelbaum, Ulf Neisius, Barry J Maron, Michael A Burke, Brenden Chen, Silvere Pagant, Christoffer V Madsen, Ragnar Danielsen, Reynir Arngrimsson, Ulla Feldt-Rasmussen, Jonathan G Seidman, Christine E Seidman, Gunnar Th Gunnarsson
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). METHODS AND RESULTS: Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes)...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28797308/coeliac-disease-in-infants-antibodies-to-deamidated-gliadin-peptide-come-first
#6
Michele Arigliani, Francesca Rech Morassutti, Martina Fabris, Paola Melli, Elio Tonutti, Paola Cogo
BACKGROUND: The onset of coeliac disease (CD) in the first year of life is uncommon and the diagnosis can be challenging due to the suboptimal sensitivity of tissue transglutaminase antibodies (tTG) at this age and the many other possible causes of malabsorption in infants. Antibodies to deamidated gliadin peptides (anti-DGPs), especially IgG, may appear earlier than IgA anti-tTG in very young children with CD. CASE PRESENTATION: We report here on an 8-month-old child who was evaluated for failure to thrive, constipation and developmental delay...
August 10, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28794969/an-unusual-type-of-myeloid-sarcoma-localization-following-myelofibrosis-a-case-report-and-literature-review
#7
Nicola Orofino, Daniele Cattaneo, Cristina Bucelli, Loredana Pettine, Sonia Fabris, Umberto Gianelli, Nicola Stefano Fracchiolla, Agostino Cortelezzi, Alessandra Iurlo
Myeloid Sarcoma (MS) is a rare malignancy that can present as an isolated disease or more frequently in association with or following acute myeloid leukemia or other myeloid neoplasms and rarely following myelofibrosis. Since molecular pathogenesis and prognostic factors of MS are not well understood, its prognosis remains poor even in the era of novel agents and target therapies. We report the case of a patient with MS following myelofibrosis with multiple subcutaneous, cutaneous and muscle localizations; the latter has been reported in the literature as anecdotal...
2017: Leukemia Research Reports
https://www.readbyqxmd.com/read/28794847/neuro-otological-and-peripheral-nerve-involvement-in-fabry-disease
#8
Sergio Carmona, Romina Weinschelbaum, Ana Pardal, Cintia Marchesoni, Paz Zuberbuhler, Patricia Acosta, Guillermo Cáceres, Isaac Kisinovsky, Luciana Bayón, Ricardo Reisin
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...
July 18, 2017: Audiology Research
https://www.readbyqxmd.com/read/28793143/intraoperative-diagnosis-of-anderson-fabry-disease-in-patients-with-obstructive-hypertrophic-cardiomyopathy-undergoing-surgical-myectomy
#9
Franco Cecchi, Maria Iascone, Niccolò Maurizi, Laura Pezzoli, Irene Binaco, Elena Biagini, Maria Laura Fibbi, Iacopo Olivotto, Federico Pieruzzi, Ana Fruntelata, Lucian Dorobantu, Claudio Rapezzi, Paolo Ferrazzi
Importance: Diagnostic screening for Anderson-Fabry cardiomyopathy (AFC) is performed in the presence of specific clinical red flags in patients with hypertrophic cardiomyopathy (HCM) older than 25 years. However, left ventricular outflow tract obstruction (LVOTO) has been traditionally considered an exclusion criteria for AFC. Objective: To examine a series of patients diagnosed with HCM and severe basal LVOTO undergoing myectomy in whom the diagnosis of AFC was suspected by the cardiac surgeon intraoperatively and confirmed by histological and genetic examinations...
August 9, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28785465/the-role-of-cardiovascular-magnetic-resonance-imaging-in-heart-failure
#10
Mark A Peterzan, Oliver J Rider, Lisa J Anderson
Cardiovascular imaging is key for the assessment of patients with heart failure. Today, cardiovascular magnetic resonance imaging plays an established role in the assessment of patients with suspected and confirmed heart failure syndromes, in particular identifying aetiology. Its role in informing prognosis and guiding decisions around therapy are evolving. Key strengths include its accuracy; reproducibility; unrestricted field of view; lack of radiation; multiple abilities to characterise myocardial tissue, thrombus and scar; as well as unparalleled assessment of left and right ventricular volumes...
November 2016: Card Fail Rev
https://www.readbyqxmd.com/read/28784140/patterns-of-cmr-measured-longitudinal-strain-and-its-association-with-late-gadolinium-enhancement-in-patients-with-cardiac-amyloidosis-and-its-mimics
#11
Lynne K Williams, Julian F Forero, Zoran B Popovic, Dermot Phelan, Diego Delgado, Harry Rakowski, Bernd J Wintersperger, Paaladinesh Thavendiranathan
BACKGROUND: Regional variability of longitudinal strain (LS) has been previously described with echocardiography in patients with cardiac amyloidosis (CA), however, the reason for this variability is not completely evident. We sought to describe regional patterns in LS using feature-tracking software applied to cardiovascular magnetic resonance (CMR) cine images in patients with CA, hypertrophic cardiomyopathy (HCM), and Anderson-Fabry's disease (AFD) and to relate these patterns to the distribution of late gadolinium enhancement (LGE)...
August 7, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28779645/ultrastructural-aspects-of-vacuolar-degeneration-of-cardiomyocytes-in-human-endomyocardial-biopsies
#12
REVIEW
Genzou Takemura, Hiromitsu Kanamori, Hideshi Okada, Akiko Tsujimoto, Nagisa Miyazaki, Chihiro Takada, Yasuaki Hotta, Yoshiki Takatsu, Takako Fujiwara, Hisayoshi Fujiwara
Vacuolar degeneration of cardiomyocytes is a histological finding commonly encountered during routine light microscopic examination of human endomyocardial biopsy specimens. The vacuoles appear as intracellular clear areas lacking myofibers. By itself, this finding has little diagnostic value, but may have important clinical implications when the vacuolar contents are of etiological significance (e.g., accumulation of abnormal metabolites), and the clinical importance is increased when the disease is treatable...
July 4, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28774197/thrombotic-and-hemorrhagic-conditions-due-to-a-gain-of-function-of-coagulation-proteins-a-special-type-of-clotting-disorders
#13
Antonio Girolami, Elisabetta Cosi, Silvia Ferrari, Annamaria Lombardi, Fabrizio Fabris
Coagulation disorders can be classified into 2 types, namely, type I and type II. In the former, there is a concomitant decrease in factor activity and antigen (activity-antigen ratio is 1), whereas in the latter, there is a discrepancy between factor activity which is always low and antigen which is normal or near normal (activity-antigen ratio is <1, eg, 0.5). Recently, several gain-of-function disorders have been described. These are characterized by an increased activity with respect to the antigen level...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28769867/changes-in-ionic-conductance-signature-of-nociceptive-neurons-underlying-fabry-disease-phenotype
#14
Barbara Namer, Kirstin Ørstavik, Roland Schmidt, Norbert Mair, Inge Petter Kleggetveit, Maximillian Zeidler, Theresa Martha, Ellen Jorum, Martin Schmelz, Theodora Kalpachidou, Michaela Kress, Michiel Langeslag
The first symptom arising in many Fabry patients is neuropathic pain due to changes in small myelinated and unmyelinated fibers in the periphery, which is subsequently followed by a loss of sensory perception. Here we studied changes in the peripheral nervous system of Fabry patients and a Fabry mouse model induced by deletion of α-galactosidase A (Gla(-/0)). The skin innervation of Gla(-/0) mice resembles that of the human Fabry patients. In Fabry diseased humans and Gla(-/0) mice, we observed similar sensory abnormalities, which were also observed in nerve fiber recordings in both patients and mice...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28768754/previously-unreported-in-women-galactosidase-alpha-pro409ser-variant-is-associated-with-fabry-disease
#15
Sushil Allen Luis, Joseph J Maleszewski, Phillip M Young, Hartzell V Schaff, Naveen L Pereira
No abstract text is available yet for this article.
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28763515/retrospective-study-of-long-term-outcomes-of-enzyme-replacement-therapy-in-fabry-disease-analysis-of-prognostic-factors
#16
Maarten Arends, Marieke Biegstraaten, Derralynn A Hughes, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver T Watkinson, Frédéric M Vaz, André B P van Kuilenburg, Christoph Wanner, Carla E M Hollak
Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy. To study the association of potential biochemical and clinical prognostic factors with the disease course (clinical events, progression of cardiac and renal disease) we retrospectively evaluated 293 treated patients from three international centers of excellence...
2017: PloS One
https://www.readbyqxmd.com/read/28762685/fabry-disease-in-southern-sardinia-epidemiological-results-from-screening-in-an-extensive-area
#17
Piergiorgio Bolasco, Irene Sitzia, Stefano Murtas
Introduction: Epidemiological data relating to the prevalence and incidence of Fabry disease (FD) and other Lysosomal Storage diseases (LSDs) are largely underestimated and not yet well known. Distribution of the disease varies according to geographical area and to ethnic origin. Heterozygous females are also at risk of contracting severe and multi-symptomatic forms of FD. Aim: To demonstrate the results obtained in outpatient surgeries situated in an area comprising 319,340 inhabitants...
August 1, 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28756410/reduction-of-podocyte-globotriaosylceramide-content-in-adult-male-patients-with-fabry-disease-with-amenable-gla-mutations-following-6-months-of-migalastat-treatment
#18
Michael Mauer, Alexey Sokolovskiy, Jay A Barth, Jeffrey P Castelli, Hadis N Williams, Elfrida R Benjamin, Behzad Najafian
OBJECTIVE: Deficiency of α-galactosidase A (αGal-A) in Fabry disease leads to the accumulation mainly of globotriaosylceramide (GL3) in multiple renal cell types. Glomerular podocytes are relatively resistant to clearance of GL3 inclusions by enzyme replacement therapy (ERT). Migalastat, an orally bioavailable small molecule capable of chaperoning misfolded αGal-A to lysosomes, is approved in the European Union for the long-term treatment of patients with Fabry disease and amenable GLA (α-galactosidase A enzyme) mutations...
July 29, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28754833/dolichoectasia-and-small-vessel-disease-in-young-patients-with-transient-ischemic-attack-and-stroke
#19
Vincent Thijs, Ulrike Grittner, Franz Fazekas, Dominick J H McCabe, Anne-Katrin Giese, Christof Kessler, Peter Martus, Bo Norrving, Erich Bernd Ringelstein, Reinhold Schmidt, Christian Tanislav, Jukka Putaala, Turgut Tatlisumak, Bettina von Sarnowski, Arndt Rolfs, Christian Enzinger
BACKGROUND AND PURPOSE: We evaluated whether basilar dolichoectasia is associated with markers of cerebral small vessel disease in younger transient ischemic attack and ischemic stroke patients. METHODS: We used data from the SIFAP1 study (Stroke in Young Fabry Patients), a large prospective, hospital-based, screening study for Fabry disease in young (<55 years) transient ischemic attack/stroke patients in whom detailed clinical data and brain MRI were obtained, and stroke subtyping with TOAST classification (Trial of ORG 10172 in Acute Stroke Treatment) was performed...
July 28, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28754453/pathophysiologic-implications-of-innate-immunity-and-autoinflammation-in-the-biliary-epithelium
#20
REVIEW
Mario Strazzabosco, Romina Fiorotto, Massimiliano Cadamuro, Carlo Spirli, Valeria Mariotti, Eleanna Kaffe, Roberto Scirpo, Luca Fabris
The most studied physiological function of biliary epithelial cells (cholangiocytes) is to regulate bile flow and composition, in particular the hydration and alkalinity of the primary bile secreted by hepatocytes. After almost three decades of studies it is now become clear that cholangiocytes are also involved in epithelial innate immunity, in inflammation, and in the reparative processes in response to liver damage. An increasing number of evidence highlights the ability of cholangiocyte to undergo changes in phenotype and function in response to liver damage...
July 25, 2017: Biochimica et Biophysica Acta
keyword
keyword
220
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"