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Pick's Disease

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https://www.readbyqxmd.com/read/29655638/attenuation-of-the-niemann-pick-type-c2-disease-phenotype-by-intracisternal-administration-of-an-aavrh-10-vector-expressing-npc2
#1
Sandra Markmann, Jasmine Reid, Jonathan B Rosenberg, Bishnu P De, Stephen M Kaminsky, Ronald G Crystal, Dolan Sondhi
Niemann-Pick type C2 (NPC2) disease is a rare, neurodegenerative disorder caused by mutations in the NPC2 gene, leading to lysosomal accumulation of unesterified cholesterol and other lipids. It is characterized by hepatosplenomegaly, liver dysfunction and severe neurological manifestations, resulting in early death. There is no effective therapy for NPC2 disease. Here, we evaluated the effectiveness of an adeno-associated virus (AAV), serotype rh.10 gene transfer vector expressing the mouse Npc2 gene (AAVrh...
April 12, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29649087/activity-of-daily-living-after-long-level-fusion-in-adult-spinal-deformity-compared-with-over-60-years-old-degenerative-spine-patients-without-adult-spinal-deformity
#2
Whoan Jeang Kim, Jae Won Lee, Seok Young Hwang, Kun Young Park, Shann Haw Chang, Dae Geon Song, Won Sik Choy
STUDY DESIGN: Prospective single center study. OBJECTIVE: The aim of this study was to evaluate 1) the activity of daily living (ADL) of three categorized patients group; over sixty-year old degenerative spine patients without adult spinal deformity (ASD), non-operative ASD patients, and operative ASD patients, 2) what kinds of activities would be impaired, and 3) how the ADL changes over time after long level fusion. SUMMARY OF BACKGROUND DATA: There is still debate how surgeons could decide treatment methods for old aged adult spinal deformity, operatively or not...
April 11, 2018: Spine
https://www.readbyqxmd.com/read/29626102/identification-of-unusual-oxysterols-and-bile-acids-with-7-oxo-or-3%C3%AE-5%C3%AE-6%C3%AE-trihydroxy-functions-in-human-plasma-by-charge-tagging-mass-spectrometry-with-multistage-fragmentation
#3
William J Griffiths, Ian Gilmore, Eylan Yutuc, Jonas Abdel-Khalik, Peter J Crick, Thomas Hearn, Alison Dickson, Brian W Bigger, Teresa Hoi-Yee Wu, Anu Goenka, Arunabha Ghosh, Simon A Jones, Yuqin Wang
7-Oxocholesterol (7-OC), 5,6-epoxycholesterol (5,6-EC) and its hydrolysis product cholestane-3β,5α,6β-triol (3β,5α,6β-triol) are normally minor oxysterols in human samples, however, in disease their levels may be greatly elevated. This is the case in plasma from patients suffering from some lysosomal storage disorders e.g. Niemann Pick disease type C, or the inborn errors of sterol metabolism e.g. Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis. A complication in the analysis of 7-OC and 5,6-EC is that they can also be formed ex vivo from cholesterol during sample handling in air causing confusion with molecules formed in vivo...
April 6, 2018: Journal of Lipid Research
https://www.readbyqxmd.com/read/29625568/consensus-clinical-management-guidelines-for-niemann-pick-disease-type-c
#4
REVIEW
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A Jones, Daniel Ory, Bruno Bembi, Marc Patterson
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease. The age of onset of the first (beyond 3 months of life) neurological symptom may predict the severity of the disease and determines life expectancy...
April 6, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29617956/microglia-activation-in-niemann-pick-disease-type-c1-is-amendableto-therapeutic-intervention
#5
Antony Cougnoux, Rebecca A Drummond, Amanda L Collar, James R Iben, Alexander Salman, Harrison Westgarth, Christopher A Wassif, Niamh X Cawley, Nicole Y Farhat, Keiko Ozato, Mihalis S Lionakis, Forbes D Porter
Niemann-Pick disease, type C1 (NPC1) is a neurodegenerative disorder with limited treatment options. NPC1 is associated with neuroinflammation; however, attempts to therapeutically target neuroinflammation in NPC1 have had mixed success. We show here that NPC1 neuroinflammation is characterized by an atypical microglia activation phenotype. Specifically, Npc1-/- microglia demonstrated altered morphology, reduced levels of lineage markers and a shift towards glycolytic metabolism. Treatment with 2-hydroxypropyl-β-cyclodextrin (HPβCD), a drug currently being studied in a phase 3 clinical trial, reversed all microglia-associated defects in Npc1-/- animals...
March 30, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29615495/software-for-peak-finding-and-elemental-composition-assignment-for-glycosaminoglycan-tandem-mass-spectra
#6
John D Hogan, Joshua A Klein, Jiandong Wu, Pradeep Chopra, Geert-Jan Boons, Luis Carvalho, Cheng Lin, Joseph Zaia
Glycosaminoglycans (GAGs) covalently linked to proteoglycans (PGs) are characterized by repeating disaccharide units and variable sulfation patterns along the chain. GAG length and sulfation patterns impact disease etiology, cellular signaling, and structural support for cells. We and others have demonstrated the usefulness of tandem mass spectrometry (MS2) for assigning the structures of GAG saccharides; however, manual interpretation of tandem mass spectra is time-consuming, so computational methods must be employed...
April 3, 2018: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/29602746/an-appointment-based-model-to-systematically-assess-and-administer-vaccinations
#7
Heidi R Luder, Natalie Kunze, Pamela C Heaton, Stacey M Frede
OBJECTIVES: To incorporate the assessment of vaccination status and administration of vaccines in an appointment-based model (ABM) and measure the impact on vaccinations administered and patient and pharmacist satisfaction with the appointment-based model. PRACTICE DESCRIPTION: An ABM was implemented to systematically assess vaccination status and administer vaccines. Patients made an appointment to pick up synchronized prescriptions, and pharmacists assessed vaccination histories and administered vaccinations during the appointment...
March 27, 2018: Journal of the American Pharmacists Association: JAPhA
https://www.readbyqxmd.com/read/29595455/-mechanism-of-%C3%AE-lipoic-acid-promoting-iron-efflux-in-substantia-nigra-cells-of-parkinson-s-disease-rats
#8
Ting Cai, Cao Wei, Suzhen Zhai, Shengyan Tai, Chunlin Zhang, Ling Jiao
Objective To observe the effect of α-lipoic acid (α-LA) on the expressions of iron regulatory protein 2 (IRP2) and ferroportin1 (FP1) in substantia nigra of rats with Parkinson's disease (PD) and explore the mechanism by which α-LA regulates iron efflux in substantia nigra cells of PD rat models. Methods Sixty healthy male SD rats were randomly divided into a sham group (n=15) and a model group (n=45). To establish the PD model, the rats of the model group were injected with 6-hydroxydopamine (6-OHDA) into their right striatum by the stereotactic technique, and the sham operation group was injected with the same dose of normal saline...
January 2018: Xi Bao Yu Fen Zi Mian Yi Xue za Zhi, Chinese Journal of Cellular and Molecular Immunology
https://www.readbyqxmd.com/read/29587349/evaluation-of-two-liver-treatment-strategies-in-a-mouse-model-of-niemann-pick-disease-type-c1
#9
Lynn Ebner, Anne Gläser, Anja Bräuer, Martin Witt, Andreas Wree, Arndt Rolfs, Marcus Frank, Brigitte Vollmar, Angela Kuhla
Niemann-Pick-disease type C1 (NPC1) is an autosomal-recessive cholesterol-storage disorder. Besides other symptoms, NPC1 patients develop liver dysfunction and hepatosplenomegaly. The mechanisms of hepatomegaly and alterations of lipid metabolism-related genes in NPC1 disease are still poorly understood. Here, we used an NPC1 mouse model to study an additive hepatoprotective effect of a combination of 2-hydroxypropyl-β-cyclodextrin (HPβCD), miglustat and allopregnanolone (combination therapy) with the previously established monotherapy using HPβCD...
March 24, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29582952/-exome-analysis-a-game-changer-in-pediatrics
#10
REVIEW
Asaf Ta-Shma, Simon Edvardson, Orly Elpeleg, Polina Stepensky
Thirteen years after the completion of the human genome project, the determination of the genomic sequence of the coding parts of the DNA (the exones, hence the exome), has turned into a primary diagnostic tool in daily use in clinical practice. The Department of Genetics at Hadassah was the first in Israel to introduce exome analysis as a robust diagnostic tool into the pediatric departments. Till now 2600 exomes were analyzed at Hadassah, 850 of them in 2016 alone. Exome analysis is cheap and fast, enabling precise and non-invasive diagnosis for a vast array of genetic disorders and congenital malformations...
March 2018: Harefuah
https://www.readbyqxmd.com/read/29580834/niemann-pick-c2-protein-regulates-sterol-transport-between-plasma-membrane-and-late-endosomes-in-human-fibroblasts
#11
Zane Berzina, Lukasz M Solanko, Ahmed S Mehadi, Maria Louise V Jensen, Frederik W Lund, Maciej Modzel, Maria Szomek, Katarzyna A Solanko, Alice Dupont, Gitte Krogh Nielsen, Christian W Heegaard, Christer S Ejsing, Daniel Wüstner
Niemann-Pick disease type C2 is a lipid storage disorder in which mutations in the NPC2 protein cause accumulation of lipoprotein-derived cholesterol in late endosomes and lysosomes (LE/LYSs). Whether cholesterol delivered by other means to NPC2 deficient cells also accumulates in LE/LYSs is currently unknown. We show that the close cholesterol analog dehydroergosterol (DHE), when delivered to the plasma membrane (PM) accumulates in LE/LYSs of human fibroblasts lacking functional NPC2. We measured two different time scales of sterol diffusion; while DHE rich LE/LYSs moved by slow anomalous diffusion in disease cells (D ∼ 4...
March 23, 2018: Chemistry and Physics of Lipids
https://www.readbyqxmd.com/read/29578357/african-american-caregivers-perspectives-on-aggressive-behaviors-in-dementia
#12
Bryan R Hansen, Nancy A Hodgson, Laura N Gitlin
Purpose Although African-American dementia caregivers report less upset and more confidence managing aggressive behaviors when compared to whites, their contextual experience remains unclear and this study explores that context. Methods Semi-structured interviews with 13 African-American family caregivers were analyzed using content analysis. Results Two themes emerged, "It's the disease…not the person" and "You got to pick your battles." "It's the disease…not the person," reframing aggressive behavior, included three sub-themes...
January 1, 2018: Dementia
https://www.readbyqxmd.com/read/29574331/butyrate-from-pectin-fermentation-inhibits-intestinal-cholesterol-absorption-and-attenuates-atherosclerosis-in-apolipoprotein-e-deficient-mice
#13
Ying Chen, Chengfang Xu, Rong Huang, Jiayi Song, Di Li, Min Xia
Short-chain fatty acids (SCFAs), the major products of dietary fiber fermentation by intestinal microflora, exert beneficial effects on pathogenesis of multiple metabolic diseases. The aim of this study was to determine whether SCFAs from fermentation of pectin (PE), a soluble dietary fiber, prevent the development of atherosclerosis in apolipoprotein E-deficient (apoE-/- ) mice. Male apoE-/- mice (8-week-old) were fed a high-fat, high-cholesterol diet (HCD; 21% wt/wt fat, 0.15% wt/wt cholesterol) or HCD supplemented with 20% wt/wt PE (HCD+PE) alone or with antibiotics (HCD+PE + A) in drinking water for 12 weeks...
February 27, 2018: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/29560273/large-scale-computational-drug-repositioning-to-find-treatments-for-rare-diseases
#14
Rajiv Gandhi Govindaraj, Misagh Naderi, Manali Singha, Jeffrey Lemoine, Michal Brylinski
Rare, or orphan, diseases are conditions afflicting a small subset of people in a population. Although these disorders collectively pose significant health care problems, drug companies require government incentives to develop drugs for rare diseases due to extremely limited individual markets. Computer-aided drug repositioning, i.e., finding new indications for existing drugs, is a cheaper and faster alternative to traditional drug discovery offering a promising venue for orphan drug research. Structure-based matching of drug-binding pockets is among the most promising computational techniques to inform drug repositioning...
2018: NPJ Systems Biology and Applications
https://www.readbyqxmd.com/read/29559904/longitudinal-diffusion-tensor-imaging-resembles-patterns-of-pathology-progression-in-behavioral-variant-frontotemporal-dementia-bvftd
#15
Jan Kassubek, Hans-Peter Müller, Kelly Del Tredici, Michael Hornberger, Matthias L Schroeter, Karsten Müller, Sarah Anderl-Straub, Ingo Uttner, Murray Grossman, Heiko Braak, John R Hodges, Olivier Piguet, Markus Otto, Albert C Ludolph
Objective: Recently, the characteristic longitudinal distribution pattern of the underlying phosphorylated TDP-43 (pTDP-43) pathology in the behavioral variant of frontotemporal dementia (bvFTD) excluding Pick's disease (PiD) across specific brain regions was described. The aim of the present study was to investigate whether in vivo investigations of bvFTD patients by use of diffusion tensor imaging (DTI) were consistent with these proposed patterns of progression. Methods: Sixty-two bvFTD patients and 47 controls underwent DTI in a multicenter study design...
2018: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/29555518/14-3-3-protein-sigma-isoform-co-localizes-with-phosphorylated-%C3%AE-synuclein-in-lewy-bodies-and-lewy-neurites-in-patients-with-lewy-body-disease
#16
Kaori Wakabayashi, Takahiko Umahara, Katsuiku Hirokawa, Haruo Hanyu, Toshiki Uchihara
α-Synuclein shares structural homology with 14-3-3 proteins. Seven 14-3-3 protein isoforms have been identified in mammals. Among them, the 14-3-3 sigma isoform was initially considered absent in the mammalian brain. However, we previously identified immunohistochemical association of 14-3-3 sigma with Pick bodies. Because 14-3-3 isoforms other than sigma isoform have been identified in Lewy bodies, we were prompted to look for this 14-3-3 sigma-like immunoreactivity (IR) in Lewy bodies in the brainstem, cerebral cortex, and Lewy neurites in seven patients with Lewy body disease...
March 16, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29549055/low-genomic-diversity-of-legionella-pneumophila-within-clinical-specimens
#17
Sophia David, Massimo Mentasti, Julian Parkhill, Victoria J Chalker
OBJECTIVES: Legionella pneumophila is the leading cause of Legionnaires' disease, a severe form of pneumonia acquired from environmental sources. Investigations of both sporadic cases and outbreaks mostly rely on analysis of a single to a few colony pick(s) isolated from each patient. However, due to the lack of data describing diversity within single patients, the optimal number of picks is unknown. Here, we investigated diversity within individual patients using sequence based typing (SBT) and whole genome sequencing (WGS)...
March 13, 2018: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/29536386/long-term-therapy-with-miglustat-and-cognitive-decline-in-the-adult-form-of-niemann-pick-disease-type-c-a-case-report
#18
Stefano Tozza, Raffaele Dubbioso, Rosa Iodice, Antonietta Topa, Marcello Esposito, Lucia Ruggiero, Emanuele Spina, Anna De Rosa, Francesco Saccà, Lucio Santoro, Fiore Manganelli
Niemann-Pick disease type C (NPC) is a recessive lysosomal lipid storage disorder characterized by central nervous system involvement. Miglustat treatment might improve or stabilize neurological manifestations but there is still limited data on the long-term efficacy. The aim of our study was to report a four-year clinical, neuropsychological and electrophysiological follow-up of two sisters under treatment with miglustat. We report data at basal (T0) and after 4 years (T4) of treatment with miglustat from two sisters (P1 and P2) affected by NPC disease...
March 13, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29534570/predicting-the-binding-mode-of-2-hydroxypropyl-%C3%AE-cyclodextrin-hp%C3%AE-cd-to-cholesterol-by-means-of-the-md-simulation-and-the-3d-rism-kh-theory
#19
Yuji Hayashino, Masatake Sugita, Hidetoshi Arima, Tetsumi Irie, Takeshi Kikuchi, Fumio Hirata
It has been found that a cyclodextrin derivative, 2-hydroxypropyl-β-cyclodextrin (HPβCD), has reasonable therapeutic effect on Niemann-Pick disease type C which is caused by abnormal accumulation of unesterified cholesterol and glycolipids in the lysosomes and shortage of esterified cholesterol in other cellular compartments. We study the binding affinity and mode of HPβCD with cholesterol in order to elucidate the possible mechanism of HPβCD for removing cholesterol from the lysosomes. The dominant binding mode of HPβCD with cholesterol is found based on the Molecular Dynamics (MD) simulation and a statistical mechanics theory of liquids, or the 3D reference interaction site model theory with Kovalenko-Hirata closure relation (3D-RISM-KH)...
March 13, 2018: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/29522754/the-formation-of-giant-plasma-membrane-vesicles-enable-new-insights-into-the-regulation-of-cholesterol-efflux
#20
Alanna Sedgwick, M Olivia Balmert, Crislyn D'Souza-Schorey
Aberrant cellular cholesterol accumulation contributes to the pathophysiology of many diseases including neurodegenerative disorders such as Niemann-Pick Type C (NPC) and Alzheimer's Disease1-4 . Many aspects of cholesterol efflux from cells remain elusive. Here we describe the utility of cholesterol-rich giant plasma membrane vesicles (GPMVs) as a means to monitor cholesterol that is translocated to the plasma membrane for secretion. We demonstrate that small molecules known to enhance lipid efflux, including those in clinical trials for lipid storage disorders, enhance this GPMV formation...
March 6, 2018: Experimental Cell Research
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