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https://www.readbyqxmd.com/read/29777164/mrna-treatment-produces-sustained-expression-of-enzymatically-active-human-adamts13-in-mice
#1
Susan Liu-Chen, Brendan Connolly, Lei Cheng, Romesh R Subramanian, Zhaozhong Han
Thrombotic thrombocytopenic purpura (TTP) is primarily caused by deficiency of ADAMTS13 within the blood stream due to either genetic defects or presence of inhibitory autoantibodies. Preclinical and clinical studies suggest that enzyme replacement therapy with recombinant human ADAMTS13 protein (rhADAMTS13) is effective and safe in treatment of TTP. However, frequent dosing would be required due to the relatively short half-life of rhADAMTS13 in circulation as well as the presence of inhibitory autoantibodies that collectively result in the poor pharmacological profile of rhADAMTS13...
May 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29773783/cholesteryl-ester-storage-disease-fatal-outcome-without-causal-therapy-in-a-female-patient-with-the-preventable-sequelae-of-progressive-liver-disease-after-many-years-of-mild-symptoms
#2
Ali Canbay, Meike N Müller, Stathis Philippou, Guido Gerken, Andreas Tromm
BACKGROUND Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited...
May 18, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29772816/alpha-mannosidosis-therapeutic-strategies
#3
REVIEW
Maria Rachele Ceccarini, Michela Codini, Carmela Conte, Federica Patria, Samuela Cataldi, Matteo Bertelli, Elisabetta Albi, Tommaso Beccari
Alpha-mannosidosis (α-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal α-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level. Similarly to other lysosomal storage diseases, there is no relationship between genotype and phenotype in alpha-mannosidosis. Enzyme replacement therapy is at the moment the most effective therapy for lysosomal storage disease, including alpha-mannosidosis...
May 17, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29770213/variable-phenotypic-presentations-of-renal-involvement-in-fabry-disease-a-case-series
#4
Sarah McCloskey, Paul Brennan, John A Sayer
Fabry disease is an X-linked genetic deficiency in the alpha-galactosidase enzyme resulting in intracellular accumulation of glycosphingolipids and multisystem organ dysfunction. Typically 50% of males and 20% of affected females have renal involvement, ranging from proteinuria or reduced renal function, renal parapelvic cysts and progressive renal disease ultimately requiring transplantation or dialysis. The phenotypic presentation of Fabry disease is incredibly varied and will even vary between family members with the same confirmed genetic mutation...
2018: F1000Research
https://www.readbyqxmd.com/read/29766931/-in-vitro-differentiation-of-neural-cells-from-human-adipose-tissue-derived-stromal-cells
#5
Shruti D Dave, Chetan N Patel, Aruna V Vanikar, Hargovind L Trivedi
Background: Stem cells, including neural stem cells (NSCs), are endowed with self-renewal capability and hence hold great opportunity for the institution of replacement/protective therapy. We propose a method for in vitro generation of stromal cells from human adipose tissue and their differentiation into neural cells. Materials and Methods: Ten grams of donor adipose tissue was surgically resected from the abdominal wall of the human donor after the participants' informed consents...
May 2018: Neurology India
https://www.readbyqxmd.com/read/29766216/impact-of-angiotensin-converting-enzyme-inhibitors-or-receptor-blockers-on-post-icu-discharge-outcome-in-patients-with-acute-kidney-injury
#6
Etienne Gayat, Alexa Hollinger, Alain Cariou, Nicolas Deye, Antoine Vieillard-Baron, Samir Jaber, Benjamin G Chousterman, Qin Lu, Pierre François Laterre, Xavier Monnet, Michael Darmon, Marc Leone, Bertrand Guidet, Romain Sonneville, Jean-Yves Lefrant, Marie-Céline Fournier, Matthieu Resche-Rigon, Alexandre Mebazaa, Matthieu Legrand
PURPOSE: Acute kidney injury (AKI) is associated with the activation of the renin-angiotensin system. Whether angiotensin-converting enzyme inhibitors (ACEi) or angiotensin-receptor blockers (ARB) improve outcome in patients recovering from AKI remains unexplored. The purpose was to investigate the association between prescription of ACEi/ARB at intensive care unit (ICU) discharge and 1-year outcome in patients recovering from AKI. METHODS: Association between ACEi/ARB and 1-year mortality rate was explored in 1551 patients discharged from 21 European ICUs in an observational cohort...
May 15, 2018: Intensive Care Medicine
https://www.readbyqxmd.com/read/29765319/progression-and-regression-of-hepatic-lesions-in-a-mouse-model-of-nash-induced-by-dietary-intervention-and-its-implications-in-pharmacotherapy
#7
Zhi-Ming Ding, Yue Xiao, Xikun Wu, Haixia Zou, Shurong Yang, Yiyun Shen, Juehua Xu, Heather C Workman, Amy L Usborne, Haiqing Hua
Understanding of the temporal changes of hepatic lesions in the progression and regression of non-alcoholic steatohepatitis (NASH) is vital to elucidation of the pathogenesis of NASH, and critical to the development of a strategy for NASH pharmacotherapy. There are challenges in studying hepatic lesion progression and regression in NASH patients due to the slow development of NASH in humans, one being the requirement for multiple biopsies during the longitudinal follow-up. Here we studied lesion progression and regression in the diet-induced animal model of NASH by application or removal of the pathogenic diet for multiple time periods...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29755837/chagasic-cardiomyopathy-and-pompe-disease-case-report
#8
Rafael Ob de Morais, Ândrea V Chaves-Markman, Anna Pp Miranda, Ingrid G Amorim, Maria da Ga de M Cavalcanti, Manuel Markman, Brivaldo Markman-Filho
BACKGROUND: Pompe disease is a lysosomal storage disease with an autosomal recessive inheritance characterized by an insufficient activity of the acid alpha-glucosidase enzyme. The incidence varies from 1:40000 to 1:200000 live births and cardiac involvement in adults is rare. Chagas disease is an infection caused by the protozoan Trypanosoma cruzi, in which one-third of the cases progress to the chronic form, and may lead to cardiac involvement, usually from the fifth decade of life onwards...
2018: American Journal of Cardiovascular Disease
https://www.readbyqxmd.com/read/29750678/ce-understanding-the-nurse-s-role-in-managing-gaucher-disease
#9
Erika R Vucko
How advances in screening, diagnosis, and treatment affect patient care. ABSTRACT: Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions, the overall incidence of which is estimated to range from one in 5,000 to one in 7,000 live births. Gaucher disease, the most common LSD, is of autosomal recessive inheritance. It results from a deficiency of acid β-glucocerebrosidase and can affect the spleen, liver, bone, bone marrow, and central nervous system. Gaucher disease is clinically classified into one of three phenotypes, depending on the absence or presence of neurodegenerative disease and the rate of disease progression...
May 11, 2018: American Journal of Nursing
https://www.readbyqxmd.com/read/29750286/enzyme-replacement-therapy-a-review-and-its-role-in-treating-lysosomal-storage-diseases
#10
Mindy Li
Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders caused by defects in lysosomal function that lead to multiorgan system damage. Due to wide clinical variability within even a single disorder, making a diagnosis can be difficult and identification may be delayed. Enzyme replacement therapy (ERT) was first approved as a treatment for the LSD Gaucher disease in 1991. ERT development for other LSDs followed, and ERT is currently approved for eight LSDs in the United States. ERT may help slow progression and improve clinical symptoms, but it cannot affect neurologic features due to its inability to cross the blood-brain barrier...
May 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29750205/more-than-a-powerplant-the-influence-of-mitochondrial-transfer-on-the-epigenome
#11
Alexander N Patananan, Alexander J Sercel, Michael A Teitell
Each cell in the human body, with the exception of red blood cells, contains multiple copies of mitochondria that house their own genetic material, the maternally inherited mitochondrial DNA. Mitochondria are the cell's powerplant due to their massive ATP generation. However, the mitochondrion is also a hub for metabolite production from the TCA cycle, fatty acid beta-oxidation, and ketogenesis. In addition to producing macromolecules for biosynthetic reactions and cell replication, several mitochondrial intermediate metabolites serve as cofactors or substrates for epigenome modifying enzymes that regulate chromatin structure and impact gene expression...
June 2018: Current Opinion in Physiology
https://www.readbyqxmd.com/read/29749992/a-new-mutation-causing-severe-infantile-onset-pompe-disease-responsive-to-enzyme-replacement-therapy
#12
Hossein Moravej, Anis Amirhakimi, Alireza Showraki, Hamid Amoozgar, Zahra Hadipour, Ghasem Nikfar
Pompe disease (PD), also known as "glycogen storage disease type II (OMIM # 232300)" is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypotonia. Mutations in the acid alpha-glucosidase ( GAA ) gene, located at locus 17q25.3, are responsible for the disease leading to reduced activity of the acid alpha-glucosidase enzyme...
March 2018: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29747997/the-beneficial-effects-of-long-term-enzyme-replacement-therapy-on-cardiac-involvement-in-japanese-fabry-patients
#13
Kenichi Hongo, Keiichi Ito, Taro Date, Ikuko Anan, Yasunori Inoue, Satoshi Morimoto, Kazuo Ogawa, Makoto Kawai, Hiroshi Kobayashi, Masahisa Kobayashi, Hiroyuki Ida, Toya Ohashi, Ikuo Taniguchi, Michihiro Yoshimura, Yoshikatsu Eto
Fabry disease is a hereditary disorder that occurs due to the reduction or absence of alpha-galactosidase A activity, which leads to cardiac involvement including left ventricular hypertrophy (LVH). Enzyme replacement therapy (ERT) provides better patient outcomes by preventing serious complications. However, there have been very few studies on the long-term effects of ERT on the cardiac manifestations in Japanese Fabry patients. We retrospectively analyzed the data from the medical records of 42 Fabry patients (male, n = 17; female, n = 25) who were followed at Jikei University Hospital, and in whom the long-term effects of ERT could be evaluated (median follow-up period: male, 11 years; female, 8 years)...
April 26, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29744787/ada-deficiency-evaluation-of-the-clinical-and-laboratory-features-and-the-outcome
#14
Deniz Cagdas, Pınar Gur Cetinkaya, Betül Karaatmaca, Saliha Esenboga, Cagman Tan, Togay Yılmaz, Ersin Gümüş, Safa Barış, Barış Kuşkonmaz, Tuba Turul Ozgur, Pawan Bali, Ines Santisteban, Diclehan Orhan, Aysel Yüce, Duygu Cetinkaya, Kaan Boztug, Michael Hershfield, Ozden Sanal, İlhan Tezcan
INTRODUCTION: Adenosine deaminase (ADA) deficiency is an autosomal recessive primary immunodeficiency. It results in the intracellular accumulation of toxic metabolites which have effects particularly on lymphocytes and the brain. The aim of this study was to evaluate the outcome of 13 ADA-deficient patients. We planned to evaluate their clinical and laboratory findings before and after enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (aHSCT), and hematopoietic stem cell gene therapy (HSCGT)...
May 9, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29744080/gaucher-disease-and-chronic-myeloid-leukemia-first-reported-patient-receiving-enzyme-replacement-and-tyrosine-kinase-inhibitor-therapies-simultaneously
#15
MSoledad Noya, Marcio Andrade-Campos, Pilar Irun, Laura López de Frutos, MFernanda López-Fernandez, Pilar Giraldo
Report a female diagnosed as type 1 Gaucher disease after a femoral pathologic fracture when she was 55 years old. Enzyme replacement therapy was started, and she achieved therapeutic goals. In 2015, a Ph' CML with numerous pseudo-Gaucher cells in bone marrow appears. BCR/ABL was not present at GD diagnosis.
May 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29737796/pancreatic-enzyme-replacement-therapy-pert-in-children-with-persistent-diarrhea-avoidance-of-elemental-diet-need-accessibility-and-costs
#16
Ariani Dewi Widodo, Rianto Setiabudy, Ina S Timan, Saptawati Bardosono, Widdy Winarta, Agus Firmansyah
BACKGROUND AND OBJECTIVES: Persistent diarrhea has been proven to cause pancreatic exocrine insufficiency, due to decreased stimulation to the pancreas caused by prolonged mucosal injury. Pancreatic enzyme replacement therapy (PERT) given in conjunction to regular treatment is thought to be beneficial in replacing this pancreatic enzyme deficiency, avoiding the need of elemental diet. This study aims to evaluate the benefit of PERT in chil-dren with persistent diarrhea. METHODS AND STUDY DESIGN: This is a randomized, two double-blind parallel group, placebo-controlled clinical trial to evaluate the effects of pancreatic enzyme supplementation in persistent diar-rhea...
2018: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29731497/lysosomal-acid-lipase-deficiency-in-japan-a-case-report-of-siblings-and-a-literature-review-of-cases-in-japan
#17
Naoyuki Ikari, Akira Shimizu, Takeshi Asano
We report on two siblings with early onset lysosomal acid lipase deficiency or Wolman disease. Their parents had a consanguineous marriage. The children showed evidence of abdominal distension and failed to thrive, despite having regular nutrition. At 3-4 months of age, their abdominal distension and jaundice progressed rapidly and they died of liver failure. Sebelipase alfa, a recombinant form of human lysosomal acid lipase has recently been used as an enzyme replacement therapy in patients with later-onset cholesteryl ester storage disease...
2018: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/29728096/impact-of-the-treatment-of-pancreatic-exocrine-insufficiency-on-survival-of-patients-with-unresectable-pancreatic-cancer-a-retrospective-analysis
#18
Juan Enrique Domínguez-Muñoz, Laura Nieto-Garcia, Javier López-Díaz, Jose Lariño-Noia, Ihab Abdulkader, Julio Iglesias-Garcia
BACKGROUND: Malnutrition and weight loss are commonly observed in patients with pancreatic cancer and contribute to poor survival. Pancreatic exocrine insufficiency (PEI), which can be caused by ductal obstruction by a tumor, causes maldigestion and malabsorption of nutrients, thus contributing to malnutrition in these patients. In this study, we evaluated the effects of pancreatic enzyme replacement therapy (PERT) on survival in patients with unresectable pancreatic cancer. METHODS: A retrospective analysis was conducted on a database of patients with unresectable, pathologically confirmed pancreatic cancer...
May 5, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29725868/comprehensive-long-term-efficacy-and-safety-of-recombinant-human-alpha-mannosidase-velmanase-alfa-treatment-in-patients-with-alpha-mannosidosis
#19
Allan M Lund, Line Borgwardt, Federica Cattaneo, Diego Ardigò, Silvia Geraci, Mercedes Gil-Campos, Linda De Meirleir, Cécile Laroche, Philippe Dolhem, Duncan Cole, Anna Tylki-Szymanska, Monica Lopez-Rodriguez, Encarna Guillén-Navarro, Christine I Dali, Bénédicte Héron, Jens Fogh, Nicole Muschol, Dawn Phillips, J M Hannerieke Van den Hout, Simon A Jones, Yasmina Amraoui, Paul Harmatz, Nathalie Guffon
INTRODUCTION: Long-term outcome data provide important insights into the clinical utility of enzyme replacement therapies. Such data are presented for velmanase alfa in the treatment of alpha-mannosidosis (AM). METHODS: Patient data (n = 33; 14 adults, 19 paediatric) from the clinical development programme for velmanase alfa were integrated in this prospectively-designed analysis of long-term efficacy and safety. Patients who participated in the phase I/II or phase III trials and were continuing to receive treatment after completion of the trials were invited to participate in a comprehensive evaluation visit to assess long-term outcomes...
May 3, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29724657/therapeutic-goals-in-fabry-disease-recommendations-of-a-european-expert-panel-based-on-current-clinical-evidence-with-enzyme-replacement-therapy
#20
Christoph Wanner, Dominique P Germain, Max J Hilz, Marco Spada, Bruno Falissard, Perry M Elliott
No abstract text is available yet for this article.
April 11, 2018: Molecular Genetics and Metabolism
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