The Experts below are selected from a list of 50322 Experts worldwide ranked by ideXlab platform
Donald F Patterson - One of the best experts on this subject based on the ideXlab platform.
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glycogen storage disease type iv inherited Deficiency of branching Enzyme activity in cats
Pediatric Research, 1992Co-Authors: John C Fyfe, Urs Giger, Thomas J Van Winkle, Mark E Haskins, Sheldon A Steinberg, Ping Wang, Donald F PattersonAbstract:ABSTRACT: Glycogen storage disease type IV due to branching Enzyme Deficiency was found in an inbred family of Norwegian forest cats, an uncommon breed of domestic cats. Skeletal muscle, heart, and CNS degeneration were clinically apparent and histologically evident in affected cats older than 5 mo of age, but cirrhosis and hepatic failure, hallmarks of the human disorder, were absent. Beginning at or before birth, affected cats accumulated an abnormal glycogen in many tissues that was determined by histochemical, enzymatic, and spectral analysis to be a poorly branched α-1,4-D-glucan. Branching Enzyme activity was less than 0.1 of normal in liver and muscle of affected cats and partially deficient (0.17–0.75 of normal) in muscle and leukocytes of the parents of affected cats. These data and pedigree analysis indicate that branching Enzyme Deficiency is a simple autosomal recessive trait in this family. This is the first reported animal model of human glycogen storage disease type IV. A breeding colony derived from a relative of the affected cats has been established.
Salvatore Dimauro - One of the best experts on this subject based on the ideXlab platform.
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branching Enzyme Deficiency glycogenosis storage disease type iv presenting as a severe congenital hypotonia muscle biopsy and autopsy findings biochemical and molecular genetic studies
Neuromuscular Disorders, 2010Co-Authors: A L Taratuto, Hasan O Akman, M Saccoliti, Miguel A Riudavets, Naomi Arakaki, L Mesa, Gustavo Sevlever, H H Goebel, Salvatore DimauroAbstract:The fatal infantile neuromuscular presentation of branching Enzyme Deficiency (glycogen storage disease type IV) due to mutations in the gene encoding the glycogen branching Enzyme, is a rare but probably underdiagnosed cause of congenital hypotonia. We report an infant girl with severe generalized hypotonia, born at 33 weeks gestation who required ventilatory assistance since birth. She had bilateral ptosis, mild knee and foot contractures and echocardiographic evidence of cardiomyopathy. A muscle biopsy at 1 month of age showed typical polyglucosan storage. The autopsy at 3.5 months of age showed frontal cortex polymicrogyria and polyglucosan bodies in neurons of basal ganglia, thalamus, substantia innominata, brain stem, and myenteric plexus, as well as liver involvement. Glycogen branching Enzyme activity in muscle was virtually undetectable. Sequencing of the GBE1 gene revealed a homozygous 28 base pair deletion and a single base insertion at the same site in exon 5. This case confirms previous observations that GBE Deficiency ought to be included in the differential diagnosis of congenital hypotonia and that the phenotype correlates with the ‘molecular severity’ of the mutation.
John C Fyfe - One of the best experts on this subject based on the ideXlab platform.
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glycogen storage disease type iv inherited Deficiency of branching Enzyme activity in cats
Pediatric Research, 1992Co-Authors: John C Fyfe, Urs Giger, Thomas J Van Winkle, Mark E Haskins, Sheldon A Steinberg, Ping Wang, Donald F PattersonAbstract:ABSTRACT: Glycogen storage disease type IV due to branching Enzyme Deficiency was found in an inbred family of Norwegian forest cats, an uncommon breed of domestic cats. Skeletal muscle, heart, and CNS degeneration were clinically apparent and histologically evident in affected cats older than 5 mo of age, but cirrhosis and hepatic failure, hallmarks of the human disorder, were absent. Beginning at or before birth, affected cats accumulated an abnormal glycogen in many tissues that was determined by histochemical, enzymatic, and spectral analysis to be a poorly branched α-1,4-D-glucan. Branching Enzyme activity was less than 0.1 of normal in liver and muscle of affected cats and partially deficient (0.17–0.75 of normal) in muscle and leukocytes of the parents of affected cats. These data and pedigree analysis indicate that branching Enzyme Deficiency is a simple autosomal recessive trait in this family. This is the first reported animal model of human glycogen storage disease type IV. A breeding colony derived from a relative of the affected cats has been established.
Rana Yadak - One of the best experts on this subject based on the ideXlab platform.
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Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase Enzyme Deficiency to altered interstitial cells of Cajal
Orphanet Journal of Rare Diseases, 2019Co-Authors: Rana Yadak, Marjolein Breur, Marianna BugianiAbstract:Background MNGIE is a rare and fatal disease in which absence of the Enzyme thymidine phosphorylase induces systemic accumulation of thymidine and deoxyuridine and secondary mitochondrial DNA alterations. Gastrointestinal (GI) symptoms are frequently reported in MNGIE patients, however, they are not resolved with the current treatment interventions. Recently, our understanding of the GI pathology has increased, which rationalizes the pursuit of more targeted therapeutic strategies. In particular, interstitial cells of Cajal (ICC) play key roles in GI physiology and are involved in the pathogenesis of the GI dysmotility. However, understanding of the triggers of ICC deficits in MNGIE is lacking. Herein, we review the current knowledge about the pathology of GI dysmotility in MNGIE, discuss potential mechanisms in relation to ICC loss/dysfunction, remark on the limited contribution of the current treatments, and propose intervention strategies to overcome ICC deficits. Finally, we address the advances and new research avenues offered by organoids and tissue engineering technologies, and propose schemes to implement to further our understanding of the GI pathology and utility in regenerative and personalized medicine in MNGIE. Conclusion Interstitial cells of Cajal play key roles in the physiology of the gastrointestinal motility. Evaluation of their status in the GI dysmotility related to MNGIE would be valuable for diagnosis of MNGIE. Understanding the underlying pathological and molecular mechanisms affecting ICC is an asset for the development of targeted prevention and treatment strategies for the GI dysmotility related to MNGIE.
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mitochondrial neurogastrointestinal encephalomyopathy caused by thymidine phosphorylase Enzyme Deficiency from pathogenesis to emerging therapeutic options
Frontiers in Cellular Neuroscience, 2017Co-Authors: Rana Yadak, Peter Sillevis A E Smitt, Marike W Van Gisbergen, Niek P Van Til, Irenaeus F M De CooAbstract:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a progressive metabolic disorder caused by thymidine phosphorylase (TP) Enzyme Deficiency. The lack of TP results in systemic accumulation of deoxyribonucleosides thymidine (dThd) and deoxyuridine (dUrd). In these patients, clinical features include mental regression, ophthalmoplegia and fatal gastrointestinal complications. The accumulation of nucleosides also causes imbalances in mitochondrial DNA (mtDNA) deoxyribonucleoside triphosphates (dNTPs), which may play a direct or indirect role in the mtDNA depletion/deletion abnormalities, although the exact underlying mechanism remains unknown. The available therapeutic approaches include dialysis and Enzyme replacement therapy, both can only transiently reverse the biochemical imbalance. Allogeneic hematopoietic stem cell transplantation (AHSCT) is shown to be able to restore normal Enzyme activity and improve clinical manifestations in MNGIE patients. However, transplant related complications and disease progression result in a high mortality rate. New therapeutic approaches, such as adeno-associated viral (AAV) vector and hematopoietic stem cell gene therapy have been tested in Tymp-/-Upp1-/- mice, a murine model for MNGIE. This review provides background information on disease manifestations of MNGIE with a focus on current management and treatment options. It also outlines the pre-clinical approaches towards future treatment of the disease.
Beyazit Zencirci - One of the best experts on this subject based on the ideXlab platform.
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sertraline-induced pseudocholinesterase Enzyme Deficiency
International journal of general medicine, 2010Co-Authors: Beyazit ZencirciAbstract:A 47-year-old Turkish male was scheduled for laparoscopic cholecystectomy under general anesthesia. The patient had 2 operations 28 and 19 years ago under general anesthesia. It was learned that the patient was administered succinylcholine during both of these previous operations and that he did not have a history of prolonged recovery or postoperative apnea. The patient had been using sertraline for 3 years before the operation. Pseudocholinesterase is a drug-metabolizing Enzyme responsible for hydrolysis of the muscle-relaxant drugs mivacurium and succinylcholine. Deficiency of this Enzyme from any cause can lead to prolonged apnea and paralysis following administration of mivacurium and succinylcholine. The diagnosis of pseudocholinesterase Enzyme Deficiency can be made after careful clinic supervision and peripheral nerve stimulator monitoring. A decrease in the activity of pseudocholinesterase Enzyme and a decline in the block effect over time will help verify the diagnosis. Our patient's plasma cholinesterase was found to have low activity. Instead of pharmacological interventions that may further complicate the situation in such cases, the preferred course of action should be to wait until the block effect declines with the help of sedation and mechanical ventilation. In our case, the prolonged block deteriorated in the course of time before any complications developed.
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Sertraline-induced pseudocholinesterase Enzyme Deficiency
Dove Medical Press, 2010Co-Authors: Beyazit ZencirciAbstract:Beyazit ZencirciMOSTAS Private Health Hospital, Department of Anesthesiology, Kahramanmaras, TurkeyAbstract: A 47-year-old Turkish male was scheduled for laparoscopic cholecystectomy under general anesthesia. The patient had 2 operations 28 and 19 years ago under general anesthesia. It was learned that the patient was administered succinylcholine during both of these previous operations and that he did not have a history of prolonged recovery or postoperative apnea. The patient had been using sertraline for 3 years before the operation. Pseudocholinesterase is a drug-metabolizing Enzyme responsible for hydrolysis of the muscle-relaxant drugs mivacurium and succinylcholine. Deficiency of this Enzyme from any cause can lead to prolonged apnea and paralysis following administration of mivacurium and succinylcholine. The diagnosis of pseudocholinesterase Enzyme Deficiency can be made after careful clinic supervision and peripheral nerve stimulator monitoring. A decrease in the activity of pseudocholinesterase Enzyme and a decline in the block effect over time will help verify the diagnosis. Our patient’s plasma cholinesterase was found to have low activity. Instead of pharmacological interventions that may further complicate the situation in such cases, the preferred course of action should be to wait until the block effect declines with the help of sedation and mechanical ventilation. In our case, the prolonged block deteriorated in the course of time before any complications developed.Keywords: mivacurium, pseudocholinesterase Deficiency, sertralin
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pseudocholinesterase Enzyme Deficiency a case series and review of the literature
Cases Journal, 2009Co-Authors: Beyazit ZencirciAbstract:Pseudocholinesterase (butyrylcholinesterase) is a drug metabolizing Enzyme responsible for hydrolysis of the muscle relaxant drugs succinylcholine and mivacurium. Deficiency from any cause can lead to prolonged apnoea and paralysis following administration of succinylcholine and mivacurium. Within the last two years we have had four patients who have had prolonged apnea following the administration of mivacurium. It was understood that one was congenital and the other three due to various reasons had Enzyme-deficiencies. In all four of the patients, the prolonged blocks deteriorated. Prolonged blocks may be encountered due to mivacurium use. The diagnosis of pseudocholinesterase Enzyme Deficiency can be given after a careful clinic supervision and peripheral nerve stimulator monitoring. A decrease in the activity of pseudocholinesterase Enzyme and improvement in neuromuscular function will help verifying our diagnosis. Instead of pharmacological applications that may further complicate the situation, what should be done in such patients is to wait until the block-effect goes down by the help of sedation and mechanical ventilation.