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Biocatalytic Nanoreactors for Medical Purposes
Published in Peter Grunwald, Pharmaceutical Biocatalysis, 2019
Oscar González-Davis, Chauhan Kanchan, Rafael Vazquez-Duhalt
Glycogen storage disease is an inherited metabolic disorder caused by the absence or deficiency of one of the enzymes responsible for glycogen synthesis, breakdown or glycolysis, mainly within muscles and liver cells (Özen, 2007). The incidence is estimated at 1 case per 20000–43000 live births. There are several types of glycogen storage disease according to the enzyme deficiency. The enzymes involved are glycogen synthase, glucose-6-phosphatase, acid α-glucosidase, glycogen debranching enzyme, glycogen branching enzyme, glycogen phosphorylase, and others.
Non-viral liver disease
Published in Michael JG Farthing, Anne B Ballinger, Drug Therapy for Gastrointestinal and Liver Diseases, 2019
John ML Christie, Roger WG Chapman
Glycogen storage diseases are characterized by an abnormal accumulation of glycogen in tissues including liver, heart, skeletal muscle, kidney and brain. There are several different types of glycogen storage disease described, most of which are inherited in an autosomal recessive fashion. Patients present in childhood with failure to thrive or with organ failure, including liver failure.
Muscle
Published in Laurie K. McCorry, Martin M. Zdanowicz, Cynthia Y. Gonnella, Essentials of Human Physiology and Pathophysiology for Pharmacy and Allied Health, 2019
Laurie K. McCorry, Martin M. Zdanowicz, Cynthia Y. Gonnella
Autosomal recessive disorder characterized by a defect on chromosome 11 for the enzyme myophosphorylase that is responsible for the breakdown of stored glycogen in skeletal muscle. As a result, the disease is also classified as a Type V Glycogen Storage Disease.
What’s new and what’s next for gene therapy in Pompe disease?
Published in Expert Opinion on Biological Therapy, 2022
Angela L. Roger, Ronit Sethi, Meredith L. Huston, Evelyn Scarrow, Joy Bao-Dai, Elias Lai, Debolina D. Biswas, Léa El Haddad, Laura M. Strickland, Priya S. Kishnani, Mai K. ElMallah
Manuscripts for this systematic review were identified in the PubMed Database using the following search terms: (glycogen storage disease type II[MeSH Terms] AND genetic therapy[MeSH Terms]), (glycogen storage disease type II [MeSH Terms] AND dependovirus[MeSH Terms]), (glycogen storage disease type II [MeSH Terms] AND adenoviridae[MeSH Terms]), (glycogen storage disease type II [MeSH Terms] AND lentivirus[MeSH Terms]), and (glycogen storage disease type II [MeSH Terms] AND retroviridae[MeSH Terms]). Exclusion criteria were determined prior to reviewing the resulting manuscripts. Exclusion criteria included: non-English manuscripts, prior reviews, and not pertaining to the scope of the review (gene therapy for Pompe disease). Additional manuscripts within the scope of the review that did not result with our search terms were also included. Figure 1 shows the inclusion and exclusion of manuscripts from these findings.
Immunogenicity and antitumor efficacy of a novel human PD-1 B-cell vaccine (PD1-Vaxx) and combination immunotherapy with dual trastuzumab/pertuzumab-like HER-2 B-cell epitope vaccines (B-Vaxx) in a syngeneic mouse model
Published in OncoImmunology, 2020
Pravin T. P. Kaumaya, Linlin Guo, Jay Overholser, Manuel L. Penichet, Tanios Bekaii-Saab
All mice vaccinated over a period of 8 weeks showed no signs of scruffiness, lesions, or lethargy. Organs (spleen, liver, heart, lung, kidney, and tumor) from the BALB/c mice vaccinated with combination peptides (HER-2 and PD-1) were collected from mice and submitted for analysis at the Comparative Pathology & Mouse Phenotyping Core facility of the Comprehensive Cancer Center Department of Veterinary Biosciences. No significant lesions were noted in any of the organs submitted for histologic evaluation. There were also no overt biochemical abnormalities noted. All mice had hepatocellular vacuolation consistent with glycogenosis. Glycogen accumulation in the liver is interpreted to be a normal finding and varies depending on the physiological state of the animal. Glycogen accumulation can also be observed as a manifestation of toxicity or with glycogen storage diseases.
Stereotactic radiofrequency ablation of a variety of liver masses in children
Published in International Journal of Hyperthermia, 2020
Benjamin Hetzer, Georg-Friedrich Vogel, Andreas Entenmann, Michel Heil, Peter Schullian, Daniel Putzer, Bernhard Meister, Roman Crazzolara, Gabriele Kropshofer, Christina Salvador, Simon Straub, Daniela Karall, Christian Niederwanger, Gérard Cortina, Andreas Janecke, Karin Freund-Unsinn, Kathrin Maurer, Gisela Schweigmann, Georg Oberhuber, Oliver Renz, Stefan Schneeberger, Thomas Müller, Reto Bale
SRFA treatment was indicated for the following reasons: in patient 1 (Table 1) SRFA was performed for local disease control of recurrent chemo-resistant hepatoblastoma after left hemihepatectomy, with increasing alpha fetoprotein levels while awaiting LTx (Figure 1). Indication for SRFA in patient 2 with Beckwith–Wiedemann syndrome was suspected hepatoblastoma as described previously [17]. In patient 3, SRFA was intended as ‘bridging’ therapy to LTx as the definite diagnosis and exclusion of a potential neuromuscular impairment were not yet determined (Figure 1). In both patients with Tyrosinemia type I (patients 4 and 5, Table 1), SRFA was indicated to prevent imminent risk of malignancy with rising alpha-fetoprotein values. Patient 6 suffered from glycogen storage disease. Liver tumor biopsy showed beta catenin alterations. SRFA was performed due to the adenoma’s size and the associated risk of bleeding. An extended mesohepatic liver resection was not applicable to patient 7, suffering from Echinococcus multilocularis infection. Therefore, minimal invasive percutaneous SRFA was offered as an alternative treatment (Figure 2). In patient 8, four liver metastases of Stage IV neuroblastoma were treated by SRFA in a palliative setting. Patient 9 suffered from multifocal IMTs with liver lesions. The patient underwent SRFA after tumor extirpation and crizotinib therapy [20]. In patient 10, SRFA was opted for a single liver metastasis of a solid pancreatic pseudopapillary tumor.