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https://www.readbyqxmd.com/read/29457916/systematic-review-of-psychiatric-signs-in-niemann-pick-disease-type-c
#1
Olivier Bonnot, Hans-Hermann Klünemann, Christian Velten, Juan Vicente Torres Martin, Mark Walterfang
OBJECTIVES: We conducted the first systematic literature review and analysis of psychiatric manifestations in Niemann-Pick disease type C (NPC) to describe: 1) time of occurrence of psychiatric manifestations relative to other disease manifestations; 2) frequent combinations of psychiatric, neurological and visceral disease manifestations. METHODS: A systematic EMBase literature search was conducted to identify, collate and analyze published data from patients with NPC associated with psychiatric symptoms, published between January 1967 and November 2015...
February 19, 2018: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/29453517/probable-diagnosis-of-a-patient-with-niemann-pick-disease-type-c-managing-pitfalls-of-exome-sequencing
#2
William A Zeiger, Nasheed I Jamal, Maren T Scheuner, Patricia Pittman, Kimiyo M Raymond, Massimo Morra, Shri K Mishra
Here, we present a case of a 31-year-old man with progressive cognitive decline, ataxia, and dystonia. Extensive laboratory, radiographic, and targeted genetic studies over the course of several years failed to yield a diagnosis. Initial whole exome sequencing through a commercial laboratory identified several variants of uncertain significance; however, follow-up clinical examination and testing ruled each of these out. Eventually, repeat whole exome sequencing identified a known pathogenic intronic variant in the NPC1 gene (NM_000271...
February 17, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29447902/the-erythrocyte-osmotic-resistance-test-as-screening-tool-for-cholesterol-related-lysosomal-storage-diseases
#3
Laura López de Frutos, Jorge J Cebolla, Pilar Irún, Ralf Köhler, Pilar Giraldo
BACKGROUND: Erythrocyte volume regulation and membrane elasticity are essential for adaptation to osmotic and mechanical stress, and life span. Here, we evaluated whether defective cholesterol trafficking caused by the rare lysosomal storages diseases (LSDs), Niemann-Pick type C (NPC) and Lysosomal acid lipase (LAL) deficiency (LALD) impairs these properties. Moreover, we tested whether measurements of cholesterol membrane content and osmotic resistance serve as a screening test for these LSDs...
February 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29445937/secondary-hemophagocytic-syndrome-associated-with-cog6-gene-defect-report-and-review
#4
Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, Majid Alfadhel
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency...
February 15, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29431164/recommendations-for-the-detection-and-diagnosis-of-niemann-pick-disease-type-c-an-update
#5
REVIEW
Marc C Patterson, Peter Clayton, Paul Gissen, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Andrea Dardis, Carlo Dionisi-Vici, Hans-Hermann Klünemann, Philippe Latour, Charles M Lourenço, Daniel S Ory, Alasdair Parker, Miguel Pocoví, Michael Strupp, Marie T Vanier, Mark Walterfang, Thorsten Marquardt
Purpose of review: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice. Recent findings: New biomarker profiling and genetic analysis technologies are included as first-line diagnostic tests for NP-C...
December 2017: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/29431050/tdp-43-post-translational-modifications-in-health-and-disease
#6
Emanuele Buratti
Nuclear factor TDP-43 is a ubiquitously expressed RNA binding protein that plays a key causative role in several neurodegenerative diseases, especially in the ALS/FTD spectrum. In addition, its aberrant aggregation and expression has been recently observed in other type of diseases, such as myopathies and Niemann-Pick C, a lysosomal storage disease. Areas Covered. This review aims to specifically cover the post-translational modifications (PTMs) that can affect TDP-43 function and cellular status both in health and disease...
February 10, 2018: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/29429782/long-term-treatment-of-niemann-pick-type-c1-disease-with-intrathecal-2-hydroxypropyl-%C3%AE-cyclodextrin
#7
Elizabeth Berry-Kravis, Jamie Chin, Anne Hoffmann, Amy Winston, Robin Stoner, Lisa LaGorio, Katherine Friedmann, Mariana Hernandez, Daniel S Ory, Forbes D Porter, Joan A O'Keefe
BACKGROUND: Intrathecal 2-hydoxypropyl-β-cyclodextrin has been found to mobilize cholesterol, extend life, reduce cerebellar pathology, and delay onset of ataxia in the mouse and cat models of Niemann-Pick disease, type C1, a clinically variable progressive and ultimately fatal neurodegenerative storage disorder characterized by endolysosomal accumulation of unesterified cholesterol. OBJECTIVE: In this study, the long-term effects of intrathecal 2-hydoxypropyl-β-cyclodextrin treatment for 2...
January 8, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29425660/cranberry-anthocyanin-as-an-herbal-medicine-lowers-plasma-cholesterol-by-increasing-excretion-of-fecal-sterols
#8
Lijun Wang, Hanyue Zhu, Yimin Zhao, Rui Jiao, Lin Lei, Jingnan Chen, Xiaobo Wang, Zhengnan Zhang, Yu Huang, Tiejie Wang, Zhen-Yu Chen
BACKGROUND: Interest in using herbal medicines to treat the hypercholesterolemia is increasing. Cranberry extract could decrease plasma cholesterol, however, the active ingredients and the underlying mechanisms remain largely unknown. HYPOTHESIS: The present study was to test the hypothesis that cranberry anthocyanins (CrA) were at least one of the active ingredients responsible for the cholesterol-lowering activity of cranberry fruits via a mechanism of increasing fecal sterol excretion...
January 1, 2018: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/29411332/a-pilot-study-of-direct-delivery-of-hydroxypropyl-beta-cyclodextrin-to-the-lung-by-the-nasal-route-in-a-mouse-model-of-niemann-pick-c1-disease-motor-performance-is-unaltered-and-lung-disease-is-worsened
#9
Robert P Erickson, Gail Deutsch, Ruturaj Patil
We have tested the efficacy of hydroxypropyl-beta-cyclodextrin (HPBCD) delivered by the nasal route in the mouse model of juvenile Niemann-Pick C1 disease (NPC1), as pulmonary disease has not responded to systemic therapy with this drug. Since mice have no gag reflex, coating of the nasal cavity, with possible access to the brain, would be followed by delivery of HPBCD to the lung. While foamy macrophages, containing stored cholesterol, were found in the Npc1 nmf164 homozygous mice, a marked inflammatory response was found with inhaled HPBCD, both in mutant and wild-type animals...
February 6, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29411209/crohn-s-disease-in-niemann-pick-disease-type-c1-caught-in-the-cross-fire-of-host-microbial-interactions
#10
EDITORIAL
Athena Cavounidis, Holm H Uhlig
No abstract text is available yet for this article.
February 6, 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29406968/lovastatin-promotes-myelin-formation-in-npc1-mutant-oligodendrocytes
#11
Fan Yang, Xiao Feng, Arndt Rolfs, Jiankai Luo
Niemann-Pick Type C (NPC) disease is a rare neurovisceral disorder caused by mutations of either NPC1 or NPC2 gene and characterized by defective intracellular transport of cholesterol and glycosphingolipids, leading to neuron loss and myelin aberration in the central nervous system. In this study, by comparing protein expression in the cortical white matter tracts from mice at different postnatal days, we identified that in the NPC1 mutant (NPC1-/-) mice, the onset of myelination is delayed and the amount of the major myelin protein MBP and PLP, and oligodendrocyte regulatory factor Olig1 and Olig2, but not NG2 and Sox10, decreased significantly, suggesting a disruption of oligodendrocyte differentiation...
March 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29397865/the-role-of-purkinje-cell-derived-vegf-in-cerebellar-astrogliosis-in-niemann-pick-type-c-mice
#12
Min Hee Park, Ju Youn Lee, Min Seock Jeong, Hyung Sup Jang, Shogo Endo, Jae-Sung Bae, Hee Kyung Jin
Niemann-Pick type C disease (NP-C) is a fatal neurodegenerative disorder caused by a deficiency of NPC1 gene function, which leads to severe neuroinflammation such as astrogliosis. While reports demonstrating neuroinflammation are prevalent in NP-C, information about the onset and progression of cerebellar astrogliosis in this disorder is lacking. Using gene targeting, we generated vascular endothelial growth factor (VEGF) conditional null mutant mice. Deletion of VEGF in cerebellar Purkinje neurons (PNs) led to a significant increase of astrogliosis in the brain of NP-C mice in addition to the loss of PNs, suggesting PN-derived VEGF as an important factor in NP-C pathology...
February 5, 2018: BMB Reports
https://www.readbyqxmd.com/read/29397615/-clinical-features-and-gene-mutation-analysis-of-patients-with-niemann-pick-disease-type-c
#13
S C Ren, Z X Tian, Y X Deng, Y J Wang, X J Wu, Y Z Zhang, B Q Gao
Objective: To analyze the clinical manifestations, therapeutic efficacy, prognosis and characteristics of NPC1 mutation in Chinese patients with Niemann-Pick disease type C(NPC). Methods: Ten unrelated Chinese NPC patients were diagnosed by NPC1 mutation analysis from July 2013 to February 2017 in Beijing Tian Tan Hospital of Capital Medical University. Clinical data of 10 cases were analyzed retrospectively which included clinical manifestations, laboratory results and NPC1 gene mutation features, and a series of follow-up were carried out about therapeutic efficacy and prognosis...
January 23, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29390035/correction-characterization-of-hydroxypropyl-beta-cyclodextrins-used-in-the-treatment-of-niemann-pick-disease-type-c1
#14
Alfred L Yergey, Paul S Blank, Stephanie M Cologna, Peter S Backlund, Forbes D Porter, Allan J Darling
[This corrects the article DOI: 10.1371/journal.pone.0175478.].
2018: PloS One
https://www.readbyqxmd.com/read/29389079/immune-response-related-genes-associated-to-blocking-midgut-dengue-virus-infection-in-aedes-aegypti-strains-that-differ-in-susceptibility
#15
Paola A Caicedo, Idalba Mildred Serrato, Shuzhen Sim, George Dimopoulos, Heather Coatsworth, Carl Lowenberger, Clara B Ocampo
Aedes (Stegomyia) aegypti, the principal global vector of dengue viruses, has differences in its' susceptibility to dengue virus infection. We compared the global expression of genes in the midguts of Colombian Ae. aegypti dengue-susceptible (Cali-S) and dengue-refractory (Cali-MIB) field derived strains after ingesting either a sugarmeal, a bloodmeal, or a bloodmeal containing dengue virus serotype 2 (DENV-2). Microarray-based transcriptome analysis among treatments indicated a total of 4725 transcripts with differential expression between the two strains...
February 1, 2018: Insect Science
https://www.readbyqxmd.com/read/29374495/long-term-substrate-reduction-therapy-with-ezetimibe-alone-or-associated-with-statins-in-three-adult-patients-with-lysosomal-acid-lipase-deficiency
#16
Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini
BACKGROUND: Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has been approved by drug agencies for treatment of this lysosomal disease. Ezetimibe is an azetidine derivative which blocks Niemann Pick C1-Like 1 Protein; as its consequence, plasmatic concentration of low density lipoproteins and other apoB-containing lipoproteins, that are the substrate of lysosomal acid lipase, are decreased...
January 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29369793/alpha-galactosidase-a-activity-in-parkinson-s-disease
#17
R N Alcalay, P Wolf, O A Levy, U J Kang, C Waters, S Fahn, B Ford, S H Kuo, N Vanegas, H Shah, C Liong, S Narayan, M W Pauciulo, W C Nichols, Z Gan-Or, G A Rouleau, W K Chung, P Oliva, J Keutzer, K Marder, X K Zhang
Glucocerebrosidase (GCase, deficient in Gaucher disease) enzymatic activity measured in dried blood spots of Parkinson's Disease (PD) cases is within healthy range but reduced compared to controls. It is not known whether activities of additional lysosomal enzymes are reduced in dried blood spots in PD. To test whether reduction in lysosomal enzymatic activity in PD is specific to GCase, we measured GCase, acid sphingomyelinase (deficient in Niemann-Pick disease types A and B), alpha galactosidase A (deficient in Fabry), acid alpha-glucosidase (deficient in Pompe) and galactosylceramidase (deficient in Krabbe) enzymatic activities in dried blood spots of PD patients (n = 648) and controls (n = 317) recruited from Columbia University...
January 21, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29367433/n-glycome-of-the-lysosomal-glycocalyx-is-altered-in-niemann-pick-type-c-disease-model-cells
#18
Marko Kosicek, Ivan Gudelj, Anita Horvatic, Tanja Jovic, Frano Vuckovic, Gordan Lauc, Silva Hecimovic
Increasing evidence implicates lysosomal dysfunction in the pathogenesis of neurodegenerative diseases, including the rare inherited lysosomal storage disorders (LSDs) and the most common neurodegenerative diseases, such as Alzheimer's and Parkinson's disease (AD and PD). While the triggers of the lysosomal impairment may involve the accumulated macromolecules or dysfunction of the lysosomal enzymes, the role of the lysosomal glycocalyx in the lysosomal (dys)function has not been studied. The goal of this work was to analyze whether there are changes in the lysosomal glycocalyx in a cellular model of a LSD Niemann-Pick type C disease (NPC)...
January 24, 2018: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/29357083/gastrointestinal-tract-pathology-in-a-balb-c-niemann-pick-disease-type-c1-null-mouse-model
#19
Antony Cougnoux, Miyad Movassaghi, Jaqueline A Picache, James R Iben, Fatemeh Navid, Alexander Salman, Kyle Martin, Nicole Y Farhat, Celine Cluzeau, Wei-Chia Tseng, Kathryn Burkert, Caitlin Sojka, Christopher A Wassif, Niamh X Cawley, Richard Bonnet, Forbes D Porter
BACKGROUND: Niemann-Pick disease, type C (NPC) is a rare lysosomal storage disorder characterized by progressive neurodegeneration, splenomegaly, hepatomegaly, and early death. NPC is caused by mutations in either the NPC1 or NPC2 gene. Impaired NPC function leads to defective intracellular transport of unesterified cholesterol and its accumulation in late endosomes and lysosomes. A high frequency of Crohn disease has been reported in NPC1 patients, suggesting that gastrointestinal tract pathology may become a more prominent clinical issue if effective therapies are developed to slow the neurodegeneration...
January 22, 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29354005/in-vivo-assessment-of-neurodegeneration-in-type-c-niemann-pick-disease-by-ideal-iq
#20
Ruo-Mi Guo, Qing-Ling Li, Zhong-Xing Luo, Wen Tang, Ju Jiao, Jin Wang, Zhuang Kang, Shao-Qiong Chen, Yong Zhang
Objective: To noninvasively assess the neurodegenerative changes in the brain of patients with Niemann-Pick type C (NPC) disease by measuring the lesion tissue with the iterative decomposition of water and fat with echo asymmetry and least square estimation-iron quantification (IDEAL-IQ). Materials and Methods: Routine brain MRI, IDEAL-IQ and 1H-proton magnetic resonance spectroscopy (1H-MRS, served as control) were performed on 12 patients with type C Niemann-Pick disease (4 males and 8 females; age range, 15-61 years; mean age, 36 years) and 20 healthy subjects (10 males and 10 females; age range, 20-65 years; mean age, 38 years)...
January 2018: Korean Journal of Radiology: Official Journal of the Korean Radiological Society
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