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https://www.readbyqxmd.com/read/29215752/familial-tauopathy-with-p364s-mapt-mutation-clinical-course-neuropathology-and-ultrastructure-of-neuronal-tau-inclusions
#1
Peter Štrafela, Jerica Pleško, Jožef Magdič, Blaž Koritnik, Andrej Zupan, Damjan Glavač, Mara Bresjanac, Mara Popović
AIMS: This report presents the clinical course, neuropathology and ultrastructure of neuronal tau inclusions of four Slovene relatives with P364S MAPT mutation. METHODS: The clinical history of three out of four P364S MAPT mutation carriers was taken. After formalin fixation, thorough sampling of the central nervous system was followed by paraffin embedding, H&E, Gallyas, Bielschowsky, and immunostaining with AT8, anti-3R, anti-4R tau, anti-Amyloid-β, anti-TDP43, and anti-alpha-synuclein antibodies...
December 7, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29213187/the-role-of-the-whitefly-bemisia-tabaci-gennadius-and-farmer-practices-in-the-spread-of-cassava-brown-streak-ipomoviruses
#2
Midatharahally N Maruthi, Simon C Jeremiah, Ibrahim U Mohammed, James P Legg
Cassava brown streak disease (CBSD) is arguably the most dangerous current threat to cassava, which is Africa's most important food security crop. CBSD is caused by two RNA viruses: Cassava brown streak virus (CBSV) and Ugandan cassava brown streak virus (UCBSV). The roles of the whitefly Bemisia tabaci (Gennadius) and farmer practices in the spread of CBSD were investigated in a set of field and laboratory experiments. The virus was acquired and transmitted by B. tabaci within a short time (5-10 min each for virus acquisition and inoculation), and was retained for up to 48 hr...
December 2017: Journal of Phytopathology (1986)
https://www.readbyqxmd.com/read/29204109/intracellular-cholesterol-trafficking-and-impact-in-neurodegeneration
#3
REVIEW
Fabian Arenas, Carmen Garcia-Ruiz, Jose C Fernandez-Checa
Cholesterol is a critical component of membrane bilayers where it plays key structural and functional roles by regulating the activity of diverse signaling platforms and pathways. Particularly enriched in brain, cholesterol homeostasis in this organ is singular with respect to other tissues and exhibits a heterogeneous regulation in distinct brain cell populations. Due to the key role of cholesterol in brain physiology and function, alterations in cholesterol homeostasis and levels have been linked to brain diseases and neurodegeneration...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29200720/extraction-of-chelerythrine-and-its-effects-on-pathogenic-fungus-spore-germination
#4
Qinghui Wei, Min Zhao, Xiaoyan Li
Background: Chemical fungicides are widely used to control crop diseases, but these chemicals have adverse effects. They destroy the ecological environment and even have toxic effects on human beings. In this context, the development of botanical pesticides is relevant. One potential botanical pesticide is chelerythrine, a main alkaloid of Chelidonium majus L., which has high antitumor, fungistasis, and antiphlogosis bioactivity. Objective: This study was designed to present an ultrasonic extraction method for chelerythrine and spore germination experiments to inhibit pathogenic fungi...
October 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/29197565/molecular-and-biochemical-biomarkers-for-diagnosis-and-therapy-monitorization-of-niemann-pick-type-c-patients
#5
Tatiane Grazieli Hammerschmidt, Graziela de Oliveira Schmitt Ribas, Maria Luiza Saraiva-Pereira, Márcia Polese Bonatto, Rejane Gus Kessler, Fernanda Timm Seabra Souza, Franciele Trapp, Kristiane Michelin-Tirelli, Maira Graeff Burin, Roberto Giugliani, Carmen Regla Vargas
BACKGROUND: Niemann-Pick type C (NP-C), one of 50 inherited lysosomal storage disorders, is caused by NPC protein impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments. The clinical manifestations of NP-C include hepatosplenomegaly, neurological and psychiatric symptoms. Current diagnosis for NP-C is based on observation of the accumulated cholesterol in fibroblasts of affected individuals, using an invasive and time expensive test, called Filipin staining...
November 29, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29196779/restriction-enzyme-mediated-insertional-mutagenesis-an-efficient-method-of-rosellinia-necatrix-transformation
#6
Chandrika Attri, Swati, Saurabh Kulshrestha
Rosellinia necatrix: causing root rot disease is a very destructive pathogen of woody plants and is responsible for yield losses to a large number of fruit trees. The genetic analysis of this pathogen has not been picked up because of difficulty in generating mutations in Rosellinia necatrix for many reasons. A number of methods have been proposed for inducing mutations in Rosellinia necatrix but none of them proved worth because of very low transformation efficiencies. Here, we propose an efficient method for Rosellinia necatrix protoplast production, where protoplasts in the tune of 107 per ml can be easily generated...
December 2, 2017: Archives of Microbiology
https://www.readbyqxmd.com/read/29191430/oculomotor-abnormalities-in-children-with-niemann-pick-type-c
#7
James Blundell, Steven Frisson, Anupam Chakrapani, Paul Gissen, Chris Hendriksz, Suresh Vijay, Andrew Olson
Niemann-Pick type C (NP-C) is a rare recessive disorder associated with progressive supranuclear gaze palsy. Degeneration occurs initially for vertical saccades and later for horizontal saccades. There are studies of oculomotor degeneration in adult NP-C patients [1, 2] but no comparable studies in children. We used high-resolution video-based eye tracking to record monocular vertical and horizontal eye movements in 2 neurological NP-C patients (children with clinically observable oculomotor abnormalities) and 3 pre-neurological NP-C patients (children without clinically observable oculomotor abnormalities)...
November 16, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29176537/novel-surgical-technique-for-inducing-posterior-vitreous-detachment-during-pars-plana-vitrectomy-for-pediatric-patients-using-a-flexible-loop
#8
Linda A Cernichiaro-Espinosa, Audina M Berrocal
PURPOSE: Vitreoretinal surgical diseases in children are challenging because of the complex features of the vitreous, retina, and the interface between them. Posterior vitreous detachment is a crucial step during vitrectomy. To date, pharmacologic vitreolysis that liquefies the vitreous and disrupts the posterior hyaloid attachment to the retina has been studied. However, there are reports of unexplained adverse effects. We describe a case performed with a reproducible, safe and time-saving technique using a commercially available flexible loop for posterior vitreous detachment induction in a pediatric patient...
November 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29175127/retro-2-and-its-dihydroquinazolinone-derivatives-inhibit-filovirus-infection
#9
Olena Shtanko, Yasuteru Sakurai, Ann N Reyes, Romain Noël, Jean-Christophe Cintrat, Daniel Gillet, Julien Barbier, Robert A Davey
Members of the family Filoviridae cause severe, often fatal disease in humans, for which there are no approved vaccines and only a few experimental drugs tested in animal models. Retro-2, a small molecule that inhibits retrograde trafficking of bacterial and plant toxins inside host cells, has been demonstrated to be effective against a range of bacterial and virus pathogens, both in vitro and in animal models. Here, we demonstrated that Retro-2 and its derivatives, Retro-2.1 and compound 25, blocked infection by Ebola virus and Marburg virus in vitro...
November 21, 2017: Antiviral Research
https://www.readbyqxmd.com/read/29169110/disorder-of-gut-amino-acids-metabolism-during-ckd-progression-is-related-with-gut-microbiota-dysbiosis-and-metagenome-change
#10
Yang Liu, Jianping Li, Jingao Yu, Yingyi Wang, Jingbo Lu, Er-Xin Shang, Zhenhua Zhu, Jianming Guo, Jinao Duan
Chronic kidney disease (CKD) is a worldwide public health problem. Uremic retention solutes such as indoxyl sulfate (IS) and p-cresyl sulfate (PCS) are accumulated in CKD patients and are associated with the incidence of CKD progression. Amino acids are the major precursors of uremic retention solutes in gut. The dynamic change of amino acid metabolism in the gut during CKD progression has not been reported previously. In this paper, we studied the dynamic change of gut IS/PCS precursor and amino acid metabolism profile during CKD progression in 5/6 nephrectomized (5/6Nx) rats model...
November 15, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/29163151/ongoing-initiatives-to-improve-the-quality-and-efficiency-of-medicine-use-within-the-public-healthcare-system-in-south-africa-a-preliminary-study
#11
Johanna C Meyer, Natalie Schellack, Jacobus Stokes, Ruth Lancaster, Helecine Zeeman, Douglas Defty, Brian Godman, Gavin Steel
Introduction: South Africa has an appreciable burden of both communicable and non-communicable diseases as well as high maternal, neonatal, and child morbidity. In recent years there have been significant strides with improving the public health system, and addressing current inequalities, with the right to health a constitutional provision in South Africa. Initiatives include the introduction of National Health Insurance, programmes to enhance access to medicines for patients with chronic diseases, as well as activities to improve care in hospitals, including improving pharmacovigilance...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29162837/l-leucine-and-spns1-coordinately-ameliorate-dysfunction-of-autophagy-in-mouse-and-human-niemann-pick-type-c-disease
#12
Hiroko Yanagisawa, Tomohiro Ishii, Kentaro Endo, Emiko Kawakami, Kazuaki Nagao, Toshiyuki Miyashita, Keiko Akiyama, Kazuhiko Watabe, Masaaki Komatsu, Daisuke Yamamoto, Yoshikatsu Eto
Lysosomal storage disorders are characterized by progressive accumulation of undigested macromolecules within the cell due to lysosomal dysfunction. 573C10 is a Schwann cell line derived from a mouse model of Niemann-Pick type C disease-1, NPC (-/-). Under serum-starved conditions, NPC (-/-) cells manifested impaired autophagy accompanied by an increase in the amount of p62 and lysosome enlargement. Addition of L-leucine to serum-starved NPC (-/-) cells ameliorated the enlargement of lysosomes and the p62 accumulation...
November 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29156730/generation-of-patient-specific-human-neural-stem-cells-from-niemann-pick-disease-type-c-patient-derived-fibroblasts
#13
Eun-Ah Sung, Kyung-Rok Yu, Ji-Hee Shin, Yoojin Seo, Hyung-Sik Kim, Myung Guen Koog, Insung Kang, Jae-Jun Kim, Byung-Chul Lee, Tae-Hoon Shin, Jin Young Lee, Seunghee Lee, Tae-Wook Kang, Soon Won Choi, Kyung-Sun Kang
Niemann-Pick disease type C (NPC) is a neurodegenerative and lysosomal lipid storage disorder, characterized by the abnormal accumulation of unesterified cholesterol and glycolipids, which is caused by mutations in the NPC1 genes. Here, we report the generation of human induced neural stem cells from NPC patient-derived fibroblasts (NPC-iNSCs) using only two reprogramming factors SOX2 and HMGA2 without going through the pluripotent state. NPC-iNSCs were stably expandable and differentiated into neurons, astrocytes, and oligodendrocytes...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29152458/lysosomal-storage-diseases
#14
REVIEW
Carlos R Ferreira, William A Gahl
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy...
May 25, 2017: Translational Science of Rare Diseases
https://www.readbyqxmd.com/read/29138063/polyrotaxane-based-systemic-delivery-of-%C3%AE-cyclodextrins-for-potentiating-therapeutic-efficacy-in-a-mouse-model-of-niemann-pick-type-c-disease
#15
Atsushi Tamura, Nobuhiko Yui
Niemann-Pick type C (NPC) disease is a fatal metabolic disorder characterized by the lysosomal accumulation of cholesterol. Although 2-hydroxypropyl β-cyclodextrin (HP-β-CD) promotes the excretion of cholesterol and prolongs the life span in animal models of NPC disease, it requires extremely high dose. We developed acid-labile β-CD-based polyrotaxanes (PRXs) comprising multiple β-CDs threaded along a polymer chain capped with acid-cleavable stopper molecules for potentiating therapeutic efficacy of β-CD in NPC disease...
November 11, 2017: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/29135293/-from-the-hallervorden-spatz-eponym-to-the-molecular-terminology
#16
Ferenc Garzuly
INTRODUCTION AND AIM: A combination of Niemann-Pick- and Hallervorden-Spatz diseases led to the death of a 17-year-old boy in 1994. Genetic counseling necessitated further investigations in 2017. Meanwhile, the nomenclature of Hallervorden-Spatz disease has been abandoned. The author analyze the reasons for this change. METHOD: Professional activities of Hallervorden and Spatz during and after the Nazi euthanasia program are presented. Also, the scientific efforts that led to the discovery of the genetic background of the disease and ultimately to its new name are highlighted...
October 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29129654/corrigendum-to-cause-of-death-in-patients-with-chronic-visceral-and-chronic-neurovisceral-acid-sphingomyelinase-deficiency-niemann-pick-disease-type-b-and-b-variant-literature-review-and-report-of-new-cases-mol-genet-metab-118-2016-206-213
#17
David Cassiman, Seymour Packman, Bruno Bembi, Hadhami Ben Turkia, Moeenaldeen Al-Sayed, Manuel Schiff, Jackie Imrie, Paulina Mabe, Tsutomu Takahashi, Karl Eugen Mengel, Roberto Giugliani, Gerald F Cox
No abstract text is available yet for this article.
November 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29119141/case-report-ursodeoxycholic-acid-treatment-in-niemann-pick-disease-type-c-clinical-experience-in-four-cases
#18
William R H Evans, Elena-Raluca Nicoli, Raymond Y Wang, Nina Movsesyan, Frances M Platt
In this case series, we demonstrate that Ursodeoxycholic acid (UDCA) improves liver dysfunction in Niemann-Pick type C (NPC) and may restore a suppressed cytochrome p450 system. NPC disease is a progressive neurodegenerative lysosomal storage disease caused by mutations in either the NPC1 or NPC2 genes. Liver disease is a common feature presenting either acutely as cholestatic jaundice in the neonatal period, or in later life as elevated liver enzymes indicative of liver dysfunction. Recently, an imbalance in bile acid synthesis in a mouse model of NPC disease was linked to suppression of the P450 detoxification system and was corrected by UDCA treatment...
2017: Wellcome Open Research
https://www.readbyqxmd.com/read/29100954/newborn-presentation-of-niemann-pick-disease-type-c-difficulties-and-limitations-of-diagnostic-methods
#19
Patryk Lipiński, Irena Jankowska, Agnieszka Ługowska, Małgorzata Musielak, Maciej Pronicki, Anna Tylki-Szymańska
No abstract text is available yet for this article.
October 12, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29090525/hematopoietic-stem-cell-transplantation-in-niemann-pick-disease-type-b-monitored-by-chitotriosidase-activity
#20
Paola Quarello, Spada Marco, Porta Francesco, Vassallo Elena, Timeus Fabio, Fagioli Franca
Here, we report a patient with Niemann-Pick disease type B, with early severe onset of disease and pulmonary involvement, treated with hematopoietic stem cell transplant (HSCT) from a bone marrow matched unrelated donor. We confirm that HSCT is feasible and potentially beneficial for patients with severe phenotype. Noteworthy, we discussed the potential usefulness of the activity of peripheral chitotriosidase for the longitudinal evaluation of HSCT success and effectiveness.
November 1, 2017: Pediatric Blood & Cancer
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