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https://www.readbyqxmd.com/read/28444920/synthesis-of-mono-bis-and-tris-pentafluoroethyl-tin-derivatives-c2f5-4-nsnxn-x-ph-me-cl-br-cp-n%C3%A2-%C3%A2-1-3
#1
Johannes Klösener, Markus Wiesemann, Mark Niemann, Beate Neumann, Hans-Georg Stammler, Berthold Hoge
For (pentafluoroethyl)phenylstannanes, (C2F5)4-nSnPhn (n = 1-3), and dimethylbis(pentafluoroethyl)stannane, (C2F5)2SnMe2, a high yield synthesis was developed by the use of LiC2F5 as a C2F5 transfer reagent. The treatment of these products with gaseous hydrogen chloride or hydrogen bromide afforded (C2F5)4-nSnXn (X = Cl, Br; n = 1-3) in good yields. The (pentafluoroethyl)stannanes were fully characterized by 1H, 13C, 19F and 119Sn NMR, IR spectroscopy and mass spectrometry. The treatment of the (pentafluoroethyl)tin halides (C2F5)4-nSnXn with 1,10-phenanthroline (phen) led to the formation of the corresponding octahedrally coordinated complexes [(C2F5)4-nSnXn(phen)], the structures of which were elucidated by X-ray diffraction analyses...
April 26, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/28425484/mycobacterium-tuberculosis-resistance-prediction-and-lineage-classification-from-genome-sequencing-comparison-of-automated-analysis-tools
#2
Viola Schleusener, Claudio U Köser, Patrick Beckert, Stefan Niemann, Silke Feuerriegel
Whole-genome sequencing (WGS) has the potential to accelerate drug-susceptibility testing (DST) to design appropriate regimens for drug-resistant tuberculosis (TB). Several recently developed automated software tools promise to standardize the analysis and interpretation of WGS data. We assessed five tools (CASTB, KvarQ, Mykrobe Predictor TB, PhyResSE, and TBProfiler) with regards to DST and phylogenetic lineage classification, which we compared with phenotypic DST, Sanger sequencing, and traditional typing results for a collection of 91 strains...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28421028/adult-onset-niemann-pick-disease-type-c-rapid-treatment-initiation-advised-but-early-diagnosis-remains-difficult
#3
Tobias Piroth, Kai Boelmans, Florian Amtage, Michel Rijntjes, Anna Wierciochin, Thomas Musacchio, Cornelius Weiller, Jens Volkmann, Stephan Klebe
Niemann-Pick type C disease (NP-C) presents with heterogeneous neurological and psychiatric symptoms. Adult onset is rare and possibly underdiagnosed due to frequent lack of specific and obvious key symptoms. For both early and adolescent/adult onset, the available data from studies and case reports describe a positive effect of Miglustat (symptom relief or stabilization). However, due to the low frequency of NP-C, experience with this therapy is still limited. We describe two adult-onset cases of NP-C. In both cases, vertical supranuclear gaze palsy was not recognized at symptom onset...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28414792/characterization-of-hydroxypropyl-beta-cyclodextrins-used-in-the-treatment-of-niemann-pick-disease-type-c1
#4
Alfred L Yergey, Paul S Blank, Stephanie M Cologna, Peter S Backlund, Forbes D Porter, Allan J Darling
2-Hydroxypropyl-beta-cyclodextrin (HPβCD) has gained recent attention as a potential therapeutic intervention in the treatment of the rare autosomal-recessive, neurodegenerative lysosomal storage disorder Niemann-Pick Disease Type C1 (NPC1). Notably, HPβCD formulations are not comprised of a single molecular species, but instead are complex mixtures of species with differing degrees of hydroxypropylation of the cyclodextrin ring. The degree of substitution is a critical aspect of the complex mixture as it influences binding to other molecules and thus could potentially modulate biological effects...
2017: PloS One
https://www.readbyqxmd.com/read/28413817/dataset-in-support-of-the-generation-of-niemann-pick-disease-type-c1-patient-specific-ips-cell-lines-carrying-the-novel-npc1-mutation-c-1180t-c-or-the-prevalent-c-3182t-c-mutation-analysis-of-pluripotency-and-neuronal-differentiation
#5
Franziska Peter, Michaela Trilck, Michael Rabenstein, Arndt Rolfs, Moritz J Frech
Data presented in this article demonstrate the generation and characterization of two novel Niemann-Pick disease Type C1 (NPC1) patient-specific induced pluripotent stem cell (iPSC) lines, related to the research article Trilck et al. (Diversity of Glycosphingolipid GM2 and Cholesterol Accumulation in NPC1 Patient-Specific iPSC-Derived Neurons; Brain Res.; 2017; 1657:52-61. doi: 10.1016/j.brainres.2016.11.031). For reprogramming fibroblasts, carrying the novel homozygous mutation c.1180T>C and the prevalent homozygous mutation c...
June 2017: Data in Brief
https://www.readbyqxmd.com/read/28413422/anesthetic-approach-to-niemann-pick-type-c-patient-for-dental-treatment
#6
Ayşe Hande Arpacı
No abstract text is available yet for this article.
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/28403145/the-phosphatidylinositol-3-phosphate-5-kinase-inhibitor-apilimod-blocks-filoviral-entry-and-infection
#7
Elizabeth A Nelson, Julie Dyall, Thomas Hoenen, Alyson B Barnes, Huanying Zhou, Janie Y Liang, Julia Michelotti, William H Dewey, Lisa Evans DeWald, Richard S Bennett, Patrick J Morris, Rajarshi Guha, Carleen Klumpp-Thomas, Crystal McKnight, Yu-Chi Chen, Xin Xu, Amy Wang, Emma Hughes, Scott Martin, Craig Thomas, Peter B Jahrling, Lisa E Hensley, Gene G Olinger, Judith M White
Phosphatidylinositol-3-phosphate 5-kinase (PIKfyve) is a lipid kinase involved in endosome maturation that emerged from a haploid genetic screen as being required for Ebola virus (EBOV) infection. Here we analyzed the effects of apilimod, a PIKfyve inhibitor that was reported to be well tolerated in humans in phase 2 clinical trials, for its effects on entry and infection of EBOV and Marburg virus (MARV). We first found that apilimod blocks infections by EBOV and MARV in Huh 7, Vero E6 and primary human macrophage cells, with notable potency in the macrophages (IC50, 10 nM)...
April 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28400970/niemann-pick-type-c-disease-the-tip-of-the-iceberg-a-review-of-neuropsychiatric-presentation-diagnosis-and-treatment
#8
REVIEW
William R H Evans, Chris J Hendriksz
Niemann-Pick type C (NP-C) disease is a rare neurodegenerative lysosomal storage disorder. It is highly heterogeneous, and there is limited awareness of a substantial subgroup that has an attenuated adolescent/adult-onset disease. In these patients psychiatric features, often a psychosis, may dominate the initial impression, although often there is an associated ataxia and cognitive impairment. Typically, patients experience a substantial diagnostic delay. In this review we highlight the importance of early recognition and discuss the pathophysiology, neuropsychiatric presentation and recent changes in the investigation and work-up of these patients, and treatment options...
April 2017: BJPsych Bulletin
https://www.readbyqxmd.com/read/28387450/severe-demyelination-in-a-patient-with-a-late-infantile-form-of-niemann-pick-disease-type-c
#9
Tsuyoshi Kodachi, Shizuko Matsumoto, Masashi Mizuguchi, Hitoshi Osaka, Nobuyuki Kanai, Eiji Nanba, Kousaku Ohno, Takanori Yamagata
Niemann-Pick disease type C (NPC) is a cholesterol storage disease caused by defective cellular cholesterol transportation. The onset and progression of NPC are variable, and autopsy findings have mainly been reported for the adult and juvenile forms of this disease. Here we report the clinical and pathological findings from a 9-year-old female patient with the late infantile form of NPC due to NPC1 gene mutation. She had notable splenomegaly at 4 months of age. She lost the ability to speak at 18 months of age...
April 7, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28384320/direct-administration-of-2-hydroxypropyl-beta-cyclodextrin-into-guinea-pig-cochleae-effects-on-physiological-and-histological-measurements
#10
J T Lichtenhan, K Hirose, C A Buchman, R K Duncan, A N Salt
2-Hydroxypropyl-Beta-Cyclodextrin (HPβCD) can be used to treat Niemann-Pick type C disease, Alzheimer's disease, and atherosclerosis. But, a consequence is that HPβCD can cause hearing loss. HPβCD was recently found to be toxic to outer hair cells (OHCs) in the organ of Corti. Previous studies on the chronic effects of in vivo HPβCD toxicity did not know the intra-cochlear concentration of HPβCD and attributed variable effects on OHCs to indirect drug delivery to the cochlea. We studied the acute effects of known HPβCD concentrations administered directly into intact guinea pig cochleae...
2017: PloS One
https://www.readbyqxmd.com/read/28383485/increased-regenerative-capacity-of-the-olfactory-epithelium-in-niemann-pick-disease-type-c1
#11
Anja Meyer, Andreas Wree, René Günther, Carsten Holzmann, Oliver Schmitt, Arndt Rolfs, Martin Witt
Niemann-Pick disease type C1 (NPC1) is a fatal neurovisceral lysosomal lipid storage disorder. The mutation of the NPC1 protein affects the homeostasis and transport of cholesterol and glycosphingolipids from late endosomes/lysosomes to the endoplasmic reticulum resulting in progressive neurodegeneration. Since olfactory impairment is one of the earliest symptoms in many neurodegenerative disorders, we focused on alterations of the olfactory epithelium in an NPC1 mouse model. Previous findings revealed severe morphological and immunohistochemical alterations in the olfactory system of NPC1(-/-) mutant mice compared with healthy controls (NPC1(+/+))...
April 6, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28379564/shortened-primary-cilium-length-and-dysregulated-sonic-hedgehog-signaling-in-niemann-pick-c1-disease
#12
Sonia Canterini, Jessica Dragotto, Andrea Dardis, Stefania Zampieri, Maria Egle De Stefano, Franco Mangia, Robert P Erickson, Maria Teresa Fiorenza
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of cholesterol. We have recently found that the proliferation of cerebellar granule neuron precursors is significantly reduced in Npc1-/- mice due to the downregulation of Shh expression. This finding prompted us to analyze the formation of the primary cilium, a non-motile organelle that is specialized for Shh signal transduction and responsible, when defective, for several human genetic disorders...
April 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28370398/tau-aggregates-where-when-why-and-what-consequences
#13
EDITORIAL
Matthew P Frosch
Neuropathologists have been aware of neurofibrillary tangles for more than a century following their description as part of Alois Alzheimer's initial report. Since those early days, our understanding of the relationship of this particular type of cellular inclusion associated with neurodegeneration has continually broadened. Textbooks, now a partially antiquated concept, commonly list a range of disorders as being associated with tangles -NDASH- including typical neurodegenerative diseases (Alzheimer disease [AD], forms of frontotemporal lobar degenerations [FTLD-tau], progressive supranuclear palsy [PSP], corticobasal degeneration [CBD], primary aged related tauopathy [PART]), secondary degenerative diseases such as chronic traumatic encephalopathy, metabolic disease (Niemann-Pick disease type C) and infections (SSPE)...
April 2, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28370167/tau-aggregates-where-when-why-and-what-consequences
#14
EDITORIAL
Matthew P Frosch
Neuropathologists have been aware of neurofibrillary tangles for more than a century following their description as part of Alois Alzheimer's initial report. Since those early days, our understanding of the relationship of this particular type of cellular inclusion associated with neurodegeneration has continually broadened. Textbooks, now a partially antiquated concept, commonly list a range of disorders as being associated with tangles -NDASH- including typical neurodegenerative diseases (Alzheimer disease [AD], forms of frontotemporal lobar degenerations [FTLD-tau], progressive supranuclear palsy [PSP], corticobasal degeneration [CBD], primary aged related tauopathy [PART]), secondary degenerative diseases such as chronic traumatic encephalopathy, metabolic disease (Niemann-Pick disease type C) and infections (SSPE)...
March 30, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28369040/phosphorylated-glycosphingolipids-essential-for-cholesterol-mobilization-in-caenorhabditis-elegans
#15
Sebastian Boland, Ulrike Schmidt, Vyacheslav Zagoriy, Julio L Sampaio, Raphael F Fritsche, Regina Czerwonka, Tilo Lübken, Jakob Reimann, Sider Penkov, Hans-Joachim Knölker, Teymuras V Kurzchalia
The nematode Caenorhabditis elegans requires exogenous cholesterol to survive and its depletion leads to early developmental arrest. Thus, tight regulation of cholesterol storage and distribution within the organism is indispensable. Here, we present a novel class of C. elegans phosphorylated glycosphingolipids, phosphoethanolamine glucosylceramides (PEGCs), capable of rescuing larval arrest induced by sterol starvation. We describe the total synthesis of a major PEGC species and demonstrate that the PEGC synthetic counterpart suppresses the dauer-constitutive phenotype of Niemann-Pick C1 (NPC1) and DAF-7/TGF-β mutant worms caused by impaired intracellular sterol trafficking...
April 3, 2017: Nature Chemical Biology
https://www.readbyqxmd.com/read/28366492/effects-of-k-877-a-novel-selective-ppar%C3%AE-modulator-on-small-intestine-contribute-to-the-amelioration-of-hyperlipidemia-in-low-density-lipoprotein-receptor-knockout-mice
#16
Kenta Takei, Yoshimi Nakagawa, Yunong Wang, Song-Iee Han, Aoi Satoh, Motohiro Sekiya, Takashi Matsuzaka, Hitoshi Shimano
Peroxisome proliferator-activated receptor α (PPARα) is a well-known therapeutic target for treating hyperlipidemia. K-877 is a novel selective PPARα modulator (SPPARMα) that enhances PPARα transcriptional activity with high selectivity and potency, resulting in reduced plasma lipid levels. This study aimed to evaluate the effects of K-877 on hyperlipidemia in low-density lipoprotein receptor knockout (Ldlr(-/-)) mice, a mouse model of atherosclerosis. We revealed that K-877 administration significantly decreased plasma triglyceride (TG) and total cholesterol (TC) levels and increased plasma high-density lipoprotein cholesterol (HDL-C) levels in Ldlr(-/-) mice...
February 11, 2017: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/28352501/myocardial-ischemia-caused-by-subepicardial-hematoma
#17
Philippe Grieshaber, Holger Nef, Andreas Böning, Bernd Niemann
Background Bleeding from bypass anastomosis leakage occurs early after coronary artery bypass grafting. Later, once the anastomosis is covered by intima, spontaneous bleeding is unlikely. Case Description A 63-year-old male patient developed a pseudoaneurysm-like, subepicardial late-term bleeding resulting in a hematoma that compromised coronary artery flow by increasing extracoronary pressure. This resulted in severe angina pectoris (Canadian Cardiovascular Society IV) and myocardial ischemia within the affected area...
January 2017: Thoracic and Cardiovascular Surgeon Reports
https://www.readbyqxmd.com/read/28349644/changes-to-cholesterol-trafficking-in-macrophages-by-leishmania-parasites-infection
#18
Geo Semini, Daniel Paape, Athina Paterou, Juliane Schroeder, Martin Barrios-Llerena, Toni Aebischer
Leishmania spp. are protozoan parasites that are transmitted by sandfly vectors during blood sucking to vertebrate hosts and cause a spectrum of diseases called leishmaniases. It has been demonstrated that host cholesterol plays an important role during Leishmania infection. Nevertheless, little is known about the intracellular distribution of this lipid early after internalization of the parasite. Here, pulse-chase experiments with radiolabeled cholesteryl esterified to fatty acids bound to low-density lipoproteins indicated that retention of this source of cholesterol is increased in parasite-containing subcellular fractions, while uptake is unaffected...
March 27, 2017: MicrobiologyOpen
https://www.readbyqxmd.com/read/28344011/the-epidemiology-pathogenesis-transmission-diagnosis-and-management-of-multidrug-resistant-extensively-drug-resistant-and-incurable-tuberculosis
#19
REVIEW
Keertan Dheda, Tawanda Gumbo, Gary Maartens, Kelly E Dooley, Ruth McNerney, Megan Murray, Jennifer Furin, Edward A Nardell, Leslie London, Erica Lessem, Grant Theron, Paul van Helden, Stefan Niemann, Matthias Merker, David Dowdy, Annelies Van Rie, Gilman K H Siu, Jotam G Pasipanodya, Camilla Rodrigues, Taane G Clark, Frik A Sirgel, Aliasgar Esmail, Hsien-Ho Lin, Sachin R Atre, H Simon Schaaf, Kwok Chiu Chang, Christoph Lange, Payam Nahid, Zarir F Udwadia, C Robert Horsburgh, Gavin J Churchyard, Dick Menzies, Anneke C Hesseling, Eric Nuermberger, Helen McIlleron, Kevin P Fennelly, Eric Goemaere, Ernesto Jaramillo, Marcus Low, Carolina Morán Jara, Nesri Padayatchi, Robin M Warren
Global tuberculosis incidence has declined marginally over the past decade, and tuberculosis remains out of control in several parts of the world including Africa and Asia. Although tuberculosis control has been effective in some regions of the world, these gains are threatened by the increasing burden of multidrug-resistant (MDR) and extensively drug-resistant (XDR) tuberculosis. XDR tuberculosis has evolved in several tuberculosis-endemic countries to drug-incurable or programmatically incurable tuberculosis (totally drug-resistant tuberculosis)...
March 15, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28339617/searching-for-the-smoker-s-paradox-in-acute-stroke-patients-treated-with-intravenous-thrombolysis
#20
Haitham M Hussein, Nicki Niemann, Emily D Parker, Adnan I Qureshi
Background: Inconsistent evidence supports better outcome in smokers after stroke. Our study examines this association in a large sample of ischemic stroke treated with intravenous thrombolysis. Method: Virtual International Stroke Trials Archive (VISTA) database, composed of individual patient data of multiple clinical trials, was queried. The primary outcome was functional independence at 3 months noted by modified Rankin Scale (mRS; a 7-point scale ranging from 0 [no deficit] to 6 [death]) score≤ 2...
January 28, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
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