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https://www.readbyqxmd.com/read/29137040/a-multicenter-open-label-phase-iii-study-of-abcertin-in-gaucher-disease
#1
Beom Hee Lee, Ahmed Fathy Abdalla, Jin-Ho Choi, Amal El Beshlawy, Gu-Hwan Kim, Sun Hee Heo, Ahmed Megahed Hassan Megahed, Mona Abdel Latif Elsayed, Tarik El-Sayed Mohammad Barakat, Khaled Mohamed Abd El-Azim Eid, Mona Hassan El-Tagui, Mona Mohamed Hamdy Mahmoud, Ekram Fateen, June-Young Park, Han-Wook Yoo
BACKGROUND: Gaucher disease (GD) is caused by a deficiency in the lysosomal enzyme glucocerebrosidase. Enzyme replacement therapy (ERT) is recommended for clinical improvement. METHODS: The efficacy and safety of a new imiglucerase, Abcertin, were assessed in 7 Egyptian patients with treatment-naïve type 1 GD. Each patient was administered a biweekly 60 U/kg dose of Abcertin for 6 months. The primary endpoint was the change in hemoglobin concentration. The secondary endpoints were changes from baseline in platelet counts, spleen and liver volumes, biomarker levels, skeletal parameters, and bone mineral density...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29124014/a-molecular-analysis-of-the-gaa-gene-and-clinical-spectrum-in-38-patients-with-pompe-disease-in-japan
#2
Yasuyuki Fukuhara, Naoko Fuji, Narutoshi Yamazaki, Asami Hirakiyama, Tetsuharu Kamioka, Joo-Hyun Seo, Ryuichi Mashima, Motomichi Kosuga, Torayuki Okuyama
Pompe disease is an autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, which results in the accumulation of glycogen in lysosomes in multiple tissues, including cardiac, skeletal, and smooth muscle cells. Thus far, 558 sequence variants of the GAA gene have been published in the Pompe Disease Mutation Database, and some mutations appear with considerable frequency in particular ethnic groups, such as Caucasians, Taiwanese, Chinese, and Koreans. However, the GAA mutation pattern in Japanese patients remains poorly understood...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29122638/neural-indices-of-emotional-reactivity-and-regulation-predict-course-of-ptsd-symptoms-in-combat-exposed-veterans
#3
Jacklynn M Fitzgerald, Stephanie M Gorka, Autumn Kujawa, Julia A DiGangi, Eric Proescher, Justin E Greenstein, Darrin M Aase, Christopher Schroth, Kaveh Afshar, Amy E Kennedy, Greg Hajcak, K Luan Phan
After diagnosis, veterans with posttraumatic stress disorder (PTSD) display significant variability in the natural course of illness (Bonanno et al., 2012)). Cross-sectional work reveals that abnormal neural response during emotion reactivity-measured using the late positive potential (LPP)-correlates with PTSD symptom severity; however, whether the LPP during emotional reactivity and regulation predicts symptoms over time is unknown. The current study examined the LPP during emotion reactivity and regulation as predictors of PTSD symptoms over one year in OEF/OIF/OND combat-exposed veterans...
November 6, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29117951/long-term-benefit-of-enzyme-replacement-therapy-in-pompe-disease-a-5-year-prospective-study
#4
Esther Kuperus, Michelle E Kruijshaar, Stephan C A Wens, Juna M de Vries, Marein M Favejee, Jan C van der Meijden, Dimitris Rizopoulos, Esther Brusse, Pieter A van Doorn, Ans T van der Ploeg, Nadine A M E van der Beek
OBJECTIVE: To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are available on the long-term efficacy of ERT in Pompe disease. METHODS: We included 102 adult patients with Pompe disease in a nationwide, prospective cohort study. We assessed muscle strength (manual muscle testing with Medical Research Council [MRC] grading, handheld dynamometry [HHD]), muscle function (6-minute walk test, Quick Motor Function Test), daily life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale), and pulmonary function (forced vital capacity [FVC] in upright and supine positions, maximum inspiratory and expiratory pressures) at 3- to 6-month intervals before and after the start of ERT...
November 8, 2017: Neurology
https://www.readbyqxmd.com/read/29101575/current-and-future-treatments-for-lysosomal-storage-disorders
#5
REVIEW
David P W Rastall, Andrea Amalfitano
Purpose of review Lysosomal storage disorders (LSDs) are a class of genetic disorders that are a testing ground for the invention of novel therapeutics including enzyme replacement therapy (ERT), substrate reduction therapy (SRT), gene therapy, and hematopoietic stem cell transplant (HSCT). This review summarizes recently approved drugs, then examines the successful clinical trials in gene therapy and HSCT. Recent findings The FDA has recently approved a second SRT by reversing an earlier FDA decision, suggesting a favorable regulatory landscape going forward...
November 4, 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/29099167/separation-and-analysis-of-lactosylceramide-galabiosylceramide-and-globotriaosylceramide-by-lc-ms-ms-in-urine-of-fabry-disease-patients
#6
Michel Boutin, Iskren Menkovic, Tristan Martineau, Vanessa Vaillancourt-Lavigueur, Amanda Toupin, Christiane Auray-Blais
Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A (α-GAL A) deficiency. This enzyme contributes to the cellular recycling of glycosphingolipids such as galabiosylceramide (Ga2), globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) by hydrolysing the terminal alpha-galactosyl moiety. Urine and plasma α-GAL A substrates are currently analyzed as biomarkers for the detection, monitoring and follow-up of Fabry disease patients. The sensitivity of the analysis of Ga2 is decreased by the co-analysis of its structural isomer, lactosylceramide (LacCer), which is not an α-GAL A substrate...
November 3, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/29071212/the-use-of-port-a-caths-in-adult-patients-with-lysosomal-storage-disorders-receiving-enzyme-replacement-therapy-one-centre-experience
#7
Mairead McLoughlin, Karolina M Stepien, Briony McNelly, Lorraine Thompson, Janet Gorton, Christian J Hendriksz
Port-a-cath is a widely used device in patients with long-term venous access demand such as frequent or continuous administration of medications such as Enzyme Replacement Therapy (ERT), chemotherapy delivery, blood transfusions, blood products, and fluids. Patients with Lysosomal Storage Diseases (LSDs) often require recurrent courses of ERT. We reviewed our experience of using port-a-caths in patients with LSDs with the focus on challenges and complications associated with these catheters. Among 245 adult patients who were treated with ERT, twenty patients (8...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29067088/ethical-issues-in-managing-lysosomal-storage-disorders-in-children-in-low-and-middle-income-countries
#8
REVIEW
Bushra Afroze, Nick Brown
The lysosomal storage diseases are a group of rare, inherited metabolic diseases affecting about 1 in 7000 to 8000 people. In recent years, the introduction of enzyme replacement therapy, substrate reduction therapy and small molecule therapy, has changed the natural course of this otherwise progressive group of disorders leading to severe morbidity and early mortality. These treatment options, however, are extremely expensive and are needed for life thus presenting an economical as well as ethical challenge to the affected families and the health care system of a country...
July 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29065735/phase-i-and-ii-clinical-trials-for-the-mucopolysaccharidoses
#9
Fabiano Poswar, Guilherme Baldo, Roberto Giugliani
The mucopolysaccharidoses are lysosomal diseases characterized by deficient activity of one of the enzymes that degrades glycosaminoglycans. Treatment options are limited; therefore, new treatments are under investigation. Areas covered: We review the medicinal products for the treatment of mucopolysaccharidoses that are currently being investigated in phase I and phase II clinical trials. Expert opinion: The number of alternatives to treat MPS diseases increased dramatically in an attempt to provide therapy options for orphan MPS diseases and to address the unmet needs of the MPS that already have a treatment available...
October 31, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/29062243/frequency-domain-optical-tomographic-image-reconstruction-algorithm-with-the-simplified-spherical-harmonics-sp3-light-propagation-model
#10
Hyun Keol Kim, Ludguier D Montejo, Jingfei Jia, Andreas H Hielscher
We introduce here the finite volume formulation of the frequency-domain simplified spherical harmonics model with n-th order absorption coefficients (FD-SPN) that approximates the frequency-domain equation of radiative transfer (FD-ERT). We then present the FD-SPN based reconstruction algorithm that recovers absorption and scattering coefficients in biological tissue. The FD-SPN model with 3(rd) order absorption coefficient (i.e., FD-SP3) is used as a forward model to solve the inverse problem. The FD-SP3 is discretized with a node-centered finite volume scheme and solved with a restarted generalized minimum residual (GMRES) algorithm...
June 2017: Int J Therm Sci
https://www.readbyqxmd.com/read/29055531/the-utility-of-the-fipi-score-in-predicting-long-term-clinical-outcomes-in-patients-with-fabry-disease-receiving-enzyme-replacement-therapy-with-agalsidase-alfa
#11
Dylan J Mac Lochlainn, Douglas G J McKechnie, Atul B Mehta, Derralynn A Hughes
Fabry disease is a rare X-linked lysosomal storage disorder in which there is deficiency of alpha galactosidase A. Enzyme replacement therapy (ERT) is commercially available and has been demonstrated to improve cardiac and renal outcomes. Predictive scores, such as the Fabry International Prognostic Index (FIPI), have been developed to stratify disease severity; however, these have not been validated to predict outcomes in patients receiving ERT. We show that the FIPI score at baseline can predict outcomes in a group of patients on long-term ERT...
October 5, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29050825/neuroimaging-findings-in-infantile-pompe-patients-treated-with-enzyme-replacement-therapy
#12
Paul T McIntosh, Lisa D Hobson-Webb, Zoheb B Kazi, Sean N Prater, Suhrad G Banugaria, Stephanie Austin, Raymond Wang, David S Enterline, Donald P Frush, Priya S Kishnani
BACKGROUND: Recombinant human acid α-glucosidase (rhGAA) enzyme replacement therapy (ERT) has prolonged survival in infantile Pompe disease (IPD), but has unmasked central nervous system (CNS) changes. METHODS: Brain imaging, consisting of computed tomography (CT) and/or magnetic resonance imaging (MRI), was performed on 23 patients with IPD (17 CRIM-positive, 6 CRIM-negative) aged 2-38months. Most patients had baseline neuroimaging performed prior to the initiation of ERT...
October 13, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29044829/enzyme-replacement-therapy-prevents-loss-of-bone-and-fat-mass-in-murine-homocystinuria
#13
Tomas Majtan, Insun Park, Erez M Bublil, Jan P Kraus
Skeletal and connective tissue defects are the most striking symptoms in patients suffering from classical homocystinuria (HCU). Here, we determined body composition and bone mass in three mouse models of HCU and assessed whether a long-term administration of enzyme replacement therapy (ERT) corrected the phenotype. The mouse models of HCU were analyzed using dual-energy X-ray absorptiometry and the data were complemented by plasma biochemical profiles. Both the mouse model lacking CBS (KO) and the one expressing human CBS mutant transgene on a mouse CBS null background (I278T) showed marked bone loss and decreased weight mostly due to a lower fat content compared with negative controls...
October 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/29044507/tieg-and-estrogen-modulate-sost-expression-in-the-murine-skeleton
#14
Malayannan Subramaniam, Kevin S Pitel, Elizabeth S Bruinsma, David G Monroe, John R Hawse
TIEG knockout (KO) mice exhibit a female-specific osteopenic phenotype and altered expression of TIEG in humans is associated with osteoporosis. Gene expression profiling studies identified sclerostin as one of the most highly up-regulated transcripts in the long bones of TIEG KO mice relative to WT littermates suggesting that TIEG may regulate SOST expression. TIEG was shown to substantially suppress SOST promoter activity and the regulatory elements through which TIEG functions were identified using promoter deletion and chromatin immunoprecipitation assays...
October 16, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29039131/phenotype-disease-severity-and-pain-are-major-determinants-of-quality-of-life-in-fabry-disease-results-from-a-large-multicenter-cohort-study
#15
Maarten Arends, Simon Körver, Derralynn A Hughes, Atul Mehta, Carla E M Hollak, Marieke Biegstraaten
Quality of life (QoL) is decreased in patients with Fabry disease (FD). To improve QoL, it is important to understand the influence of FD related characteristics, symptoms, and complications. In this retrospective cohort study we explored the effect of pain (measured by the Brief Pain Inventory), phenotype, treatment, and FD-related complications on QoL. QoL data of Fabry patients as assessed by the EuroQol five dimension questionnaire (EQ-5D) from two international centers of excellence were collected. The aim of this study was to evaluate the effect of sex, phenotype, age, different states of disease severity, pain, and ERT on EQ-5D utilities...
October 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28983456/enzyme-replacement-therapy-attenuates-disease-progression-in-two-japanese-siblings-with-mucopolysaccharidosis-type-vi-10-year-follow-up
#16
Mahoko Furujo, Motomichi Kosuga, Torayuki Okuyama
Early initiation of enzyme replacement therapy (ERT) has demonstrated clinical benefit in patients with mucopolysaccharidosis type VI (MPS VI), a progressive, multisystem autosomal recessive lysosomal disorder caused by N-acetylgalactosamine-4-sulphatase (ASB) deficiency and the consequent accumulation of glycosaminoglycan. A previous case report highlighted that 3 years of ERT with recombinant human ASB (galsulfase) was well tolerated and effective in two Japanese siblings with MPS VI who initiated ERT at 5...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28983455/long-term-cognitive-and-somatic-outcomes-of-enzyme-replacement-therapy-in-untransplanted-hurler-syndrome
#17
Julie B Eisengart, Jeanine Jarnes, Alia Ahmed, Igor Nestrasil, Richard Ziegler, Kathleen Delaney, Elsa Shapiro, Chester Whitley
Mucopolysaccharidosis type I (MPS I) was added to the Recommended Uniform Screening Panel for newborn screening in 2016, highlighting recognition that early treatment of MPS I is critical to stem progressive, irreversible disease manifestations. Enzyme replacement therapy (ERT) is an approved treatment for all MPS I phenotypes, but because the severe form (MPS IH, Hurler syndrome) involves rapid neurocognitive decline, the impermeable blood-brain-barrier is considered an obstacle for ERT. Instead, hematopoietic cell transplantation (HCT) has long been recommended, as it is believed to be the only therapy that arrests neurocognitive decline...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28975776/menopause-and-hormone-replacement-therapy-the-2017-recommendations-of-the-italian-menopause-society
#18
Marco Gambacciani, Nicoletta Biglia, Angelo Cagnacci, Costantino DI Carlo, Salvatore Caruso, Ettore Cicinelli, Vincenzo DE Leo, Manuela Farris, Alessandro Gambera, Secondo Guaschino, Antonio Lanzone, Anna M Paoletti, Novella Russo, Franco Vicariotto, Paola Villa, Annibale Volpe
In the last decade the risk benefits ratio of HRT has been reevaluated mainly in tens of cardiovascular risk. Present Consensus Statement is largely inspired by the Global Consensus on Menopausel Hormone Therapy in 2013 and 2016 by leading global menopause societies (The American Society for Reproductive Medicine, The Asia Pacific Menopause Federation, The Endocrine Society, The European Menopause and Andropause Society, The International Menopause Society, The International Osteoporosis Foundation and The North American Menopause Society)...
October 3, 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/28974237/clinical-outcomes-in-idursulfase-treated-patients-with-mucopolysaccharidosis-type-ii-3-year-data-from-the-hunter-outcome-survey-hos
#19
Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego, Michael Beck
BACKGROUND: Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is available in the form of enzyme replacement therapy (ERT) with recombinant I2S. Clinical outcomes following ≥3 years of ERT with idursulfase were investigated in a broad population of patients with MPS II enrolled in the Hunter Outcome Survey (HOS). METHODS: As of January 2016, 639 patients (excluding female patients, individuals who had received a bone marrow transplant and those enrolled in the phase 1/2 [TKT018] or phase 2/3 [TKT024] clinical trial) followed prospectively in the registry had received idursulfase for ≥6 months...
October 3, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28972689/late-onset-pompe-s-disease-in-a-hemodialysis-patient-a-first-case-report
#20
Theodoros Eleftheriadis, Panagiota Makri, Paschalia Karakosta, Georgios Pissas, Vassilios Liakopoulos, Helen Michelakakis, Georgios M Hadjigeorgiou, Ioannis Stefanidis
A 37-year-old hemodialysis patient appeared with unusual somnolence during 2 successive hemodialysis sessions. Blood gas analysis revealed hypercapnic respiratory failure and spirometry restrictive lung disease. After exclusion of other causes of restrictive lung disease with chest CT-scan and cerebrum MRI, electrophysiological study revealed myopathy. Because besides lordosis and limb-girdle gait the patient was ambulant the possibility of late-onset Pompe's disease was set and confirmed with evaluation of α-glucosidase activity and genetic analysis...
October 3, 2017: Hemodialysis International
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