keyword
MENU ▼
Read by QxMD icon Read
search

enzyme replacement therapy

keyword
https://www.readbyqxmd.com/read/28527173/gaucher-disease-presenting-in-an-adult-with-intracerebral-bleed
#1
Sandeep Nemani, Bhumi Agrawal, Sumita Danda, Biju George
Gaucher disease (GD) is the most common lysosomal storage disorder, caused by deficiency of acid beta glucosidase. GD usually presents in children but occasional cases can present in adulthood. Here we report a case of type I GD in a 37 year old female who presented with intracerebral bleed due to long standing thrombocytopenia. She underwent splenectomy in view of limited resources for enzyme replacement therapy. With splenectomy her platelet counts normalised and neurological status also improved.
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28526293/new-biomarkers-defining-a-novel-early-stage-of-fabry-nephropathy-a-diagnostic-test-study
#2
Patrício Aguiar, Olga Azevedo, Rui Pinto, Jacira Marino, Robert Baker, Carlos Cardoso, José Luís Ducla Soares, Derralynn Hughes
BACKGROUND: Renal involvement in Fabry disease is a major determinant of overall disease prognosis and early enzyme replacement therapy seems effective in preventing progression of kidney injury. Gb3 storage, glomerular sclerosis and tubulo-interstitial fibrosis may occur with minimal or no changes on standard renal tests, hence alternative markers of renal dysfunction are crucial. In this study we compared several biomarkers with albuminuria in the identification of incipient Fabry nephropathy and their diagnostic accuracy to identify chronic kidney disease (CKD) stage≥2...
May 13, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28524215/-novel-therapies-in-neurometabolic-diseases-the-importance-of-early-intervention
#3
L G Gutierrez-Solana
INTRODUCTION: Individually, neurometabolic diseases are ultra rare, but for some of them there is an effective treatment. DEVELOPMENT: Several recent therapeutic advances are reviewed. Today, the possibilities of treatment for lysosomal diseases have improved. In recent years the use of enzyme replacement therapy has become more widely extended to treat mucopolysaccharidosis type IVA (Morquio A), mucopolysaccharidosis type VII (Sly syndrome), lysosomal acid lipase deficiency and alpha-mannosidosis...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28523321/autoimmune-hepatitis-with-sclerosing-cholangitis-in-a-patient-with-thiopurine-methyltransferase-deficiency-case-presentation
#4
Sorin Claudiu Man, Cristina Nicoleta Schnell, Valentina Sas, Anca Dana Buzoianu, Dan Gheban
The association between two autoimmune diseases is known in the literature as overlap syndrome. We present the case of an 18-year-old boy, diagnosed at the age of 13 with an overlap syndrome between type I autoimmune hepatitis and sclerosing cholangitis. The response to immunosuppressant therapy was hampered by azathioprine-induced toxicity causing severe pancytopenia, as a result of thiopurine methyltransferase enzyme genetic deficiency. Treatment was replaced by mycophenolate mofetil. Although the relapse rate was reduced, the disease progressed to cirrhosis...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28523190/expression-of-upar-in-urinary-podocytes-of-patients-with-fabry-disease
#5
Hernán Trimarchi, Romina Canzonieri, Amalia Schiel, Juan Politei, Cristian Costales-Collaguazo, Aníbal Stern, Matías Paulero, Tatiana Rengel, Lara Valiño-Rivas, Mariano Forrester, Fernando Lombi, Vanesa Pomeranz, Romina Iriarte, Alexis Muryan, Alberto Ortiz, María Dolores Sanchez-Niño, Elsa Zotta
Background. Despite enzyme replacement therapy, Fabry nephropathy still progresses. Podocyturia is an irreversible event that antedates proteinuria and leads to chronic renal failure. We evaluated a potential mechanism of podocyte detachment via the expression of the urokinase-type Plasminogen Activator Receptor (uPAR) in urinary podocytes of Fabry patients. Methods. This is a cross-sectional study that included controls (n = 20) and Fabry patients (n = 44) either untreated (n = 23) or treated with agalsidase-β (n = 21)...
2017: International Journal of Nephrology
https://www.readbyqxmd.com/read/28512588/severe-aplastic-anemia-following-parvovirus-b19-associated-acute-hepatitis
#6
Masanori Furukawa, Kosuke Kaji, Hiroyuki Masuda, Kuniaki Ozaki, Shohei Asada, Aritoshi Koizumi, Takuya Kubo, Norihisa Nishimura, Yasuhiko Sawada, Kosuke Takeda, Tsuyoshi Mashitani, Masayuki Kubo, Itsuto Amano, Tomoyuki Ootani, Chiho Ohbayashi, Koji Murata, Tatsuichi Ann, Akira Mitoro, Hitoshi Yoshiji
Human parvovirus (HPV) B19 is linked to a variety of clinical manifestations, such as erythema infectiosum, nonimmune hydrops fetalis, and transient aplastic anemia. Although a few cases have shown HPVB19 infection as a possible causative agent for hepatitis-associated aplastic anemia (HAAA) in immunocompetent patients, most reported cases of HAAA following transient hepatitis did not have delayed remission. Here we report a rare case of severe aplastic anemia following acute hepatitis with prolonged jaundice due to HPVB19 infection in a previously healthy young male...
2017: Case Reports in Hepatology
https://www.readbyqxmd.com/read/28510034/improvement-of-fabry-disease-related-gastrointestinal-symptoms-in-a-significant-proportion-of-female-patients-treated-with-agalsidase-beta-data-from-the-fabry-registry
#7
William R Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, Alberto Ortiz, Roberta M Lemay, Ana Jovanovic, Dominique P Germain, Carmen Varas, Katherine Nicholls, Frank Weidemann, Robert J Hopkin
Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase, GLA. In patients with Fabry disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to persist into adulthood if left untreated. To further understand the effects of sustained enzyme replacement therapy (ERT) with agalsidase beta on gastrointestinal symptoms in heterozygotes, a data analysis of female patients enrolled in the Fabry Registry was conducted...
May 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28507907/effectiveness-of-enzyme-replacement-therapy-in-fabry-disease-long-term-experience-in-argentina
#8
Gustavo Cabrera, Juan Politei, Norberto Antongiovani, Hernán Amartino
Evidence regarding long term effectiveness of enzyme replacement therapy (ERT) in Fabry disease (FD) is needed. The aim of this study was to analyze in a cohort of FD patients in Argentina, the long term effectiveness of ERT on renal, cardiac and cerebrovascular parameters. METHODS: Patients with genetically proven FD were included from GADYTEF (Argentinean group for the treatment of FD) between 2001 and 2014. Renal, cardiac, and cerebral outcomes were prospectively studied in patients treated with ERT...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28507174/elevated-adenosine-induces-placental-dna-hypomethylation-independent-of-a2b-receptor-signaling-in-preeclampsia
#9
Aji Huang, Hongyu Wu, Takayuki Iriyama, Yujin Zhang, Kaiqi Sun, Anren Song, Hong Liu, Zhangzhe Peng, Lili Tang, Minjung Lee, Yun Huang, Xin Ni, Rodney E Kellems, Yang Xia
Preeclampsia is a prevalent pregnancy hypertensive disease with both maternal and fetal morbidity and mortality. Emerging evidence indicates that global placental DNA hypomethylation is observed in patients with preeclampsia and is linked to altered gene expression and disease development. However, the molecular basis underlying placental epigenetic changes in preeclampsia remains unclear. Using 2 independent experimental models of preeclampsia, adenosine deaminase-deficient mice and a pathogenic autoantibody-induced mouse model of preeclampsia, we demonstrate that elevated placental adenosine not only induces hallmark features of preeclampsia but also causes placental DNA hypomethylation...
May 15, 2017: Hypertension
https://www.readbyqxmd.com/read/28506293/case-report-of-unexpected-gastrointestinal-involvement-in-type-1-gaucher-disease-comparison-of-eliglustat-tartrate-treatment-and-enzyme-replacement-therapy
#10
Yoo-Mi Kim, Dong Hoon Shin, Su Bum Park, Chong Kun Cheon, Han-Wook Yoo
BACKGROUND: Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT). CASE PRESENTATION: Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Rare compound heterozygous mutations (p.Arg48Trp and p.Arg257Gln) of the GBA gene were found in both...
May 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28502768/lysosomal-enzyme-replacement-therapies-historical-development-clinical-outcomes-and-future-perspectives
#11
Melani Solomon, Silvia Muro
Lysosomes and lysosomal enzymes play a central role in numerous cellular processes, including cellular nutrition, recycling, signaling, defense, and cell death. Genetic deficiencies of lysosomal components, most commonly enzymes, are known as "lysosomal storage disorders" or "lysosomal diseases" (LDs) and lead to lysosomal dysfunction. LDs broadly affect peripheral organs and the central nervous system (CNS), debilitating patients and frequently causing fatality. Among other approaches, enzyme replacement therapy (ERT) has advanced to the clinic and represents a beneficial strategy for 8 out of the 50-60 known LDs...
May 11, 2017: Advanced Drug Delivery Reviews
https://www.readbyqxmd.com/read/28502515/lysosomal-acid-lipase-deficiency-in-all-siblings-of-the-same-parents
#12
James J Maciejko, Premchand Anne, Saleem Raza, Hernando J Lyons
We present 4 normal-weight sibling children with lysosomal acid lipase deficiency (LAL-D). LAL-D was considered in the differential diagnosis based on the absence of secondary causes and primary inherited traits for their marked hyperlipidemia, together with unexplained hepatic transaminase elevation. Residual lysosomal acid lipase activity confirmed the diagnosis. DNA sequencing of LIPA indicated that the siblings were compound heterozygotes (c.894G>A and c.428+1G>A). This case describes the unusual occurrence of all offspring from the same nonconsanguineous mother and father inheriting compound heterozygosity of a recessive trait and the identification of an apparently unique LIPA mutation (c...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28500230/conjunctival-lymphangiectasia-associated-with-classic-fabry-disease
#13
Melanie D Sivley, Eric L Wallace, David G Warnock, William J Benjamin
BACKGROUND: Fabry disease (FD) is a treatable multisystem disease caused by a defect in the alpha-galactosidase gene. Ocular signs of FD, including corneal verticillata, are among the earliest diagnostic findings. Conjunctival lymphangiectasia (CL) has not previously been associated with FD. METHODS: We examined the eyes of a cohort of 13 adult patients, eight men and five women, with documented classic FD, all treated with enzyme replacement therapy (ERT) at the University of Alabama at Birmingham between February 2014 and April 2015...
May 12, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28499810/prevalence-of-late-onset-pompe-disease-in-portuguese-patients-with-diaphragmatic-paralysis-dipper-study
#14
M J Guimarães, J C Winck, B Conde, A Mineiro, M Raposo, J Moita, A Marinho, J M Silva, N Pires, S André, C Loureiro
Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/or diaphragmatic paralysis. Since muscle strength loss is characteristic of several different conditions, which may also cause diaphragmatic paralysis, a protocol was created to search for the diagnosis of Pompe disease and exclude other possible causes...
May 9, 2017: Revista Portuguesa de Pneumologia
https://www.readbyqxmd.com/read/28499779/-treating-through-decision-and-follow-up-in-antibiotic-therapy-associated-exanthemas
#15
Axel Trautmann, Sandrine Benoit, Matthias Goebeler, Johanna Stoevesandt
BACKGROUND: Immediate discontinuation or replacement of suspected drugs is considered standard medical care in acute exanthematous skin reactions. In the treatment of bacterial infections, structurally different alternative antibiotics, however, are commonly second choice options due to a suboptimal antimicrobial activity or an unfavorable side effect profile. Nonetheless, "treating through," the continuation of antibiotic treatment despite an objective exanthema, is practiced only rarely...
May 9, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28497441/-cryptogenic-stroke-in-a-young-patient-with-heart-disease-and-kidney-failure
#16
B Oyanguren, R Segoviano, E Alegria, E Besada, M Gonzalez-Salaices, M Eimil-Ortiz, C Lopez de Silanes
INTRODUCTION: Fabry's disease is an infrequent metabolic pathology linked to the X chromosome which causes a wide variety of signs and symptoms. CASE REPORT: A 39-year-old male who was admitted to our stroke unit with right-side hemiparesis (1 + 0) and dysarthria (1). The score on the National Institute of Health Stroke Scale was 2. The patient presented angiokeratomas in both thighs. A computerised axial tomography scan of the head showed left thalamic acute infarction...
May 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28495078/favourable-effect-of-early-versus-late-start-of-enzyme-replacement-therapy-on-plasma-globotriaosylsphingosine-levels-in-men-with-classical-fabry-disease
#17
Maarten Arends, Frits A Wijburg, Christoph Wanner, Frédéric M Vaz, André B P van Kuilenburg, Derralynn A Hughes, Marieke Biegstraaten, Atul Mehta, Carla E M Hollak, Mirjam Langeveld
BACKGROUND: The level of plasma globotriaosylsphingosine (lysoGb3) is an indication of disease severity in Fabry disease (FD) and its decrease during enzyme replacement therapy could be a reflection of treatment efficacy. Early treatment of FD may improve clinical outcome, but data to support this hypothesis are scarce. In this study we compared lysoGb3 decrease after ERT initiation in men with classical FD who started ERT before the age of 25 (early-treatment) with those who started later in life (late-treatment)...
May 4, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28495044/cognitive-and-academic-outcomes-in-long-term-survivors-of-infantile-onset-pompe-disease-a-longitudinal-follow-up
#18
Gail A Spiridigliozzi, Lori A Keeling, Mihaela Stefanescu, Cindy Li, Stephanie Austin, Priya S Kishnani
This study examines the long-term cognitive and academic outcomes of 11 individuals with infantile onset Pompe disease (IOPD) (median age=11years, 1month, range=5years, 6months through 17years of age) treated with enzyme replacement therapy from an early age. All participants (7 males, 4 females) were administered individual intelligence tests (Wechsler or Leiter scales or both), a measure of their academic skill levels (Woodcock-Johnson Tests of Achievement), and a screening measure of visual-motor integration ability (Beery-Buktenica)...
May 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28494568/-the-research-advances-and-applications-of-genome-editing-in-hereditary-eye-diseases
#19
S W Cai, Y Zhang, M Z Hou, Y Liu, X R Li
Genome editing is a cutting-edge technology that generates DNA double strand breaks at the specific genomic DNA sequence through nuclease recognition and cleavage, and then achieves insertion, replacement, or deletion of the target gene via endogenous DNA repair mechanisms, such as non-homologous end joining, homology directed repair, and homologous recombination. So far, more than 600 human hereditary eye diseases and systemic hereditary diseases with ocular phenotypes have been found. However, most of these diseases are of incompletely elucidated pathogenesis and without effective therapies...
May 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28490439/skeletal-muscle-metabolism-during-prolonged-exercise-in-pompe-disease
#20
Nicolai Preisler, Pascal Laforet, Karen Lindhardt Madsen, Edith Husu, Christoffer Vissing, Gitte Hedermann, Henrik Galbo, Christopher Lindberg, John Vissing
OBJECTIVE: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown. In spite of enzyme replacement therapy, Pompe disease continues to be a progressive metabolic myopathy. Considering the health benefits of exercise, it is important in Pompe disease to acquire more information about muscle substrate use during exercise. METHODS: Seven adults with Pompe disease were matched to a healthy control group (1:1)...
May 10, 2017: Endocrine Connections
keyword
keyword
41240
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"