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https://www.readbyqxmd.com/read/28048545/we-de-207a-04-advances-in-radiological-neuro-endovascular-interventional-imaging
#1
S Rudin
: 1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28048454/we-de-207a-00-advances-in-image-guided-neurointerventions-clinical-pull-and-technology-push
#2
Jeffrey Siewerdsen, Rebecca Fahrig
: 1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047800/we-de-207a-01-parallels-in-the-evolution-of-x-ray-angiographic-systems-and-devices-used-for-minimally-invasive-endovascular-therapy
#3
C Strother
: 1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047144/we-de-207a-02-advances-in-cone-beam-ct-anatomical-and-functional-imaging-in-angio-suite-to-enable-one-stop-shop-stroke-imaging-workflow
#4
G Chen
: 1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28046482/we-de-207a-03-recent-advances-in-devices-used-in-neuro-interventions
#5
M Gounis
: 1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28007910/neuronal-pentraxin-1-depletion-delays-neurodegeneration-and-extends-life-in-sandhoff-disease-mice
#6
Alexander W M Hooper, Javier F A González, Rosemarie E Venier, Deda C Gillespie, Suleiman A Igdoura
GM2 gangliosidoses are a group of lysosomal storage disorders which include Sandhoff disease and Tay-Sachs disease. Dysregulation of glutamate receptors has been recently postulated in the pathology of Sandhoff disease. Glutamate receptor association with neuronal pentraxins 1 and 2, and the neuronal pentraxin receptor facilitates receptor potentiation and synaptic shaping. In this study, we have observed an upregulation of a novel form of neuronal pentraxin 1 (NP1-38) in the brains of a mouse model of Sandhoff disease and Tay-Sachs disease...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27972312/investigating-the-cost-effectiveness-of-genetic-counselling-for-couples-at-known-risk-of-having-children-with-tay-sachs-disease-a-two-generation-model
#7
W Ghosh, M Griffiths, A Griffiths
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27879213/generation-of-hexa-deficient-hipscs-from-fibroblasts-of-a-tay-sachs-disease-patient
#8
Zhong Liu, Rui Zhao
Human iPSC line TSD-01-hiPSC was generated from fibroblasts of a patient with infantile Tay-Sachs disease (TSD). The patient is compound heterozygous at the HEXA gene by carrying a 1278insTATC allele and an IVS12+1G>C allele. STEMCCA lentivirus, which expresses OCT4, SOX2, KLF4, and c-MYC from a polycistronic transcript, were used for reprogramming. TSD-01-hiPSC express pluripotency markers such as OCT4, SOX2, NANOG, Tra-1-60, and alkaline phosphatase, and can differentiate into tissues from all the three embryonic germ layers...
September 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27682588/tay-sachs-disease-mutations-in-hexa-target-the-%C3%AE-chain-of-hexosaminidase-a-to-endoplasmic-reticulum-associated-degradation
#9
Devin Dersh, Yuichiro Iwamoto, Yair Argon
Loss of function of the enzyme β-hexosaminidase A (HexA) causes the lysosomal storage disorder Tay-Sachs disease (TSD). It has been proposed that mutations in the α chain of HexA can impair folding, enzyme assembly, and/or trafficking, yet there is surprisingly little known about the mechanisms of these potential routes of pathogenesis. We therefore investigated the biosynthesis and trafficking of TSD-associated HexA α mutants, seeking to identify relevant cellular quality control mechanisms. The α mutants E482K and G269S are defective in enzymatic activity, unprocessed by lysosomal proteases, and exhibit altered folding pathways compared with wild-type α...
December 1, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/27577573/neural-stem-cell-transplantation-and-cns-diseases
#10
Rodolfo Gonzalez, Milton H Hamblin, Jean-Pyo Lee
In neurological disorders, pathological lesions in the central nervous system (CNS) may be globally dispersed throughout the brain or localized to specific regions. Although native neural stem cells (NSCs) are present in the adult mammalian brain, intrinsic self-repair of injured adult CNS tissue is inadequate or ineffective. The brain's poor regenerative ability may be due to the fact that NSCs are restricted to discrete locations, are few in number, or are surrounded by a microenvironment that does not support neuronal differentiation...
August 15, 2016: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/27499644/animal-models-of-gm2-gangliosidosis-utility-and-limitations
#11
REVIEW
Cheryl A Lawson, Douglas R Martin
GM2 gangliosidosis, a subset of lysosomal storage disorders, is caused by a deficiency of the glycohydrolase, β-N-acetylhexosaminidase, and includes the closely related Tay-Sachs and Sandhoff diseases. The enzyme deficiency prevents the normal, stepwise degradation of ganglioside, which accumulates unchecked within the cellular lysosome, particularly in neurons. As a result, individuals with GM2 gangliosidosis experience progressive neurological diseases including motor deficits, progressive weakness and hypotonia, decreased responsiveness, vision deterioration, and seizures...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27491212/prevention-is-the-best-therapy-the-geneticist-s-approach
#12
Gheona Altarescu
Abstract During the last two decades prenatal genetic screening and diagnosis has become the cornerstone of medical care for family planning to prevent genetic disease. Carrier screening programs for genetic disorders that are prevalent in various populations identify couples and pregnancies at risk of having an affected child. These couples can proceed with a choice of invasive prenatal diagnosis tests of the fetus (chorionic villous sampling and amniocentesis), or non-invasive prenatal testing of free fetal DNA circulation in the maternal blood which has emerged within the last few years and is currently available for fetal sexing for X Linked disorders...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27402091/gm2-gangliosidosis-ab-variant-novel-mutation-from-india-a-case-report-with-a-review
#13
Jayesh Sheth, Chaitanya Datar, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Krati Shah
BACKGROUND: GM2 gangliosidosis-AB variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of GM2 activator protein resulting from the mutation in GM2A gene. Only seven mutations in nine cases have been reported from different population except India. CASE PRESENTATION: Present case is a one year old male born to 3rd degree consanguineous Indian parents from Maharashtra. He was presented with global developmental delay, hypotonia and sensitive to hyperacusis...
2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27362553/tay-sachs-carrier-screening-by-enzyme-and-molecular-analyses-in-the-new-york-city-minority-population
#14
Nikita Mehta, Gabriel A Lazarin, Erica Spiegel, Kathleen Berentsen, Kelly Brennan, Jessica Giordano, Imran S Haque, Ronald Wapner
BACKGROUND AND AIMS: Carrier screening for Tay-Sachs disease is performed by sequence analysis of the HEXA gene and/or hexosaminidase A enzymatic activity testing. Enzymatic analysis (EA) has been suggested as the optimal carrier screening method, especially in non-Ashkenazi Jewish (non-AJ) individuals, but its utilization and efficacy have not been fully evaluated in the general population. This study assesses the reliability of EA in comparison with HEXA sequence analysis in non-AJ populations...
September 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27245530/a-possible-heterozygous-advantage-in-muscular-dystrophy
#15
A E H Emery
In certain autosomal recessive disorders there is suggestive evidence that heterozygous carriers may have some selective advantage over normal homozygotes. These include, for example, cystic fibrosis, Tay-Sachs disease and phenylketonuria. The best example so far, however, is that of significant heterozygous advantage in sickle-cell anaemia with increased resistance to falciparum malaria.
June 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27199088/systemic-gene-transfer-of-a-hexosaminidase-variant-using-an-scaav9-47-vector-corrects-gm2-gangliosidosis-in-sandhoff-mice
#16
Karlaina J L Osmon, Evan Woodley, Patrick Thompson, Katalina Ong, Subha Karumuthil-Melethil, John G Keimel, Brian L Mark, Don Mahuran, Steven J Gray, Jagdeep S Walia
GM2 gangliosidosis is a group of neurodegenerative diseases caused by β-hexosaminidase A (HexA) enzyme deficiency. There is currently no cure. HexA is composed of two similar, nonidentical subunits, α and β, which must interact with the GM2 activator protein (GM2AP), a substrate-specific cofactor, to hydrolyze GM2 ganglioside. Mutations in either subunit or the activator can result in the accumulation of GM2 ganglioside within neurons throughout the central nervous system. The resulting neuronal cell death induces the primary symptoms of the disease: motor impairment, seizures, and sensory impairments...
July 2016: Human Gene Therapy
https://www.readbyqxmd.com/read/27197548/novel-vector-design-and-hexosaminidase-variant-enabling-self-complementary-adeno-associated-virus-for-the-treatment-of-tay-sachs-disease
#17
Subha Karumuthil-Melethil, Sahana Nagabhushan Kalburgi, Patrick Thompson, Michael Tropak, Michael D Kaytor, John G Keimel, Brian L Mark, Don Mahuran, Jagdeep S Walia, Steven J Gray
GM2 gangliosidosis is a family of three genetic neurodegenerative disorders caused by the accumulation of GM2 ganglioside (GM2) in neuronal tissue. Two of these are due to the deficiency of the heterodimeric (α-β), "A" isoenzyme of lysosomal β-hexosaminidase (HexA). Mutations in the α-subunit (encoded by HEXA) lead to Tay-Sachs disease (TSD), whereas mutations in the β-subunit (encoded by HEXB) lead to Sandhoff disease (SD). The third form results from a deficiency of the GM2 activator protein (GM2AP), a substrate-specific cofactor for HexA...
July 2016: Human Gene Therapy
https://www.readbyqxmd.com/read/27054707/carrier-screening-in-the-era-of-expanding-genetic-technology
#18
Aishwarya Arjunan, Karen Litwack, Nick Collins, Joel Charrow
PURPOSE: The Center for Jewish Genetics provides genetic education and carrier screening to individuals of Jewish descent. Carrier screening has traditionally been performed by targeted mutation analysis for founder mutations with an enzyme assay for Tay-Sachs carrier detection. The development of next-generation sequencing (NGS) allows for higher detection rates regardless of ethnicity. Here, we explore differences in carrier detection rates between genotyping and NGS in a primarily Jewish population...
December 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27033294/cerebellar-atrophy-and-muscle-weakness-late-onset-tay-sachs-disease-outside-jewish-populations
#19
Katharina Marie Steiner, Johannes Brenck, Sophia Goericke, Dagmar Timmann
No abstract text is available yet for this article.
March 31, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27018595/protease-resistant-modified-human-%C3%AE-hexosaminidase-b-ameliorates-symptoms-in-gm2-gangliosidosis-model
#20
Keisuke Kitakaze, Yasumichi Mizutani, Eiji Sugiyama, Chikako Tasaki, Daisuke Tsuji, Nobuo Maita, Takatsugu Hirokawa, Daisuke Asanuma, Mako Kamiya, Kohei Sato, Mitsutoshi Setou, Yasuteru Urano, Tadayasu Togawa, Akira Otaka, Hitoshi Sakuraba, Kohji Itoh
GM2 gangliosidoses, including Tay-Sachs and Sandhoff diseases, are neurodegenerative lysosomal storage diseases that are caused by deficiency of β-hexosaminidase A, which comprises an αβ heterodimer. There are no effective treatments for these diseases; however, various strategies aimed at restoring β-hexosaminidase A have been explored. Here, we produced a modified human hexosaminidase subunit β (HexB), which we have termed mod2B, composed of homodimeric β subunits that contain amino acid sequences from the α subunit that confer GM2 ganglioside-degrading activity and protease resistance...
May 2, 2016: Journal of Clinical Investigation
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