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https://www.readbyqxmd.com/read/28808920/prospective-turkish-cohort-study-to-investigate-the-frequency-of-niemann-pick-disease-type-c-mutations-in-consanguineous-families-with-at-least-one-homozygous-family-member
#1
Meral Topçu, Dilek Aktas, Merih Öztoprak, Neslihan Önenli Mungan, Aysel Yuce, Mehmet Alikasifoglu
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a rare, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. Diagnosis of NP-C can be challenging and is frequently delayed. Identifying mutations in individuals with NP-C and their relatives enables genetic counseling and prenatal diagnosis and may support earlier diagnosis. Here we report findings from a prospective cohort study in Turkey, using targeted genetic screening of the families of NP-C probands with homozygous NPC1 or NPC2 mutations...
August 14, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28803711/a-hopeful-therapy-for-niemann-pick-c-diseases
#2
Robert P Erickson, Maria Teresa Fiorenza
No abstract text is available yet for this article.
August 10, 2017: Lancet
https://www.readbyqxmd.com/read/28803710/intrathecal-2-hydroxypropyl-%C3%AE-cyclodextrin-decreases-neurological-disease-progression-in-niemann-pick-disease-type-c1-a-non-randomised-open-label-phase-1-2-trial
#3
Daniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, Kelly A King, Xuntian Jiang, Lisa Weissfeld, Elizabeth Berry-Kravis, Cristin D Davidson, Simona Bianconi, Lee Ann Keener, Ravichandran Rao, Ariane Soldatos, Rohini Sidhu, Kimberly A Walters, Xin Xu, Audrey Thurm, Beth Solomon, William J Pavan, Bernardus N Machielse, Mark Kao, Steven A Silber, John C McKew, Carmen C Brewer, Charles H Vite, Steven U Walkley, Christopher P Austin, Forbes D Porter
BACKGROUND: Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing, 2-hydroxypropyl-β-cyclodextrins (HPβCD) significantly delayed cerebellar Purkinje cell loss, slowed progression of neurological manifestations, and increased lifespan in mouse and cat models of NPC1. The aim of this study was to assess the safety and efficacy of lumbar intrathecal HPβCD. METHODS: In this open-label, dose-escalation phase 1-2a study, we gave monthly intrathecal HPβCD to participants with NPC1 with neurological manifestation at the National Institutes of Health (NIH), Bethesda, MD, USA...
August 10, 2017: Lancet
https://www.readbyqxmd.com/read/28802248/utility-of-rapid-whole-exome-sequencing-in-the-diagnosis-of-neonatal-niemann-pick-disease-type-c-presenting-with-fetal-hydrops-and-liver-failure
#4
Mersedeh Rohanizadegan, Sarah El-Almery, Anne O'Donnell-Luria, Ivana Mihalek, Peggy Chen, Marilyn Sanders, Kristen Leeman, Megan Cho, Christina Hung, Olaf Bodamer
Rapid whole exome sequencing (rWES) is increasingly used in critically ill newborn infants to inform about diagnosis, clinical management and prognosis. Here we report a male newborn infant with hydrops, pancytopenia and acute liver failure who was listed for liver transplantation. Given the acuity of the presentation, the procedure related morbidity and mortality and lack of diagnosis we employed rWES in the proband and both parents with a turn-around time of 10 business days. rWES returned one maternally inherited, likely pathogenic and one paternally inherited, likely pathogenic variant in NPC1 suggestive of a diagnosis of Niemann Pick disease type C (NPC)...
August 11, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28801223/limited-benefits-of-presymptomatic-cord-blood-transplantation-in-neurovisceral-acid-sphingomyelinase-deficiency-asmd-intermediate-type
#5
Oriane Mercati, Samia Pichard, Marie Ouachée, Roseline Froissart, Odile Fenneteau, Bastien Roche, Monique Elmaleh-Bergès, Yves Bertrand, Hélène Ogier de Baulny, Marie T Vanier, Manuel Schiff
Acid sphingomyelinase (ASM) deficient Niemann-Pick disease is a lysosomal storage disorder resulting from mutations in the SMPD1 gene. The clinical spectrum distinguishes a severe infantile neurological form (type A), a non-neurological visceral form (type B) and a rare intermediate neurovisceral form. We report the first case of presymptomatic cord blood transplantation in a child with the intermediate type of ASM deficiency due to a homozygous Tyr369Cys mutation, whose affected elder brother had developed neurodevelopmental delay from 19 months of age, and had died from severe visceral complications at the age of 3...
July 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28780424/the-cholesterol-transport-inhibitor-u18666a-inhibits-type-i-feline-coronavirus-infection
#6
Tomomi Takano, Misaki Endoh, Hiroaki Fukatsu, Haruko Sakurada, Tomoyoshi Doki, Tsutomu Hohdatsu
Feline infectious peritonitis (FIP) is a feline coronavirus (FCoV)-induced fatal disease in wild and domestic cats. FCoV exists in two serotypes. Type I FCoV is the dominant serotype worldwide. Therefore, it is necessary to develop antiviral drugs against type I FCoV infection. We previously reported that type I FCoV is closely associated with cholesterol throughout the viral life cycle. In this study, we investigated whether U18666A, the cholesterol synthesis and transport inhibitor, shows antiviral effects against type I FCoV...
August 3, 2017: Antiviral Research
https://www.readbyqxmd.com/read/28752528/folic-acid-modulates-cancer-associated-micro-rnas-and-inflammatory-mediators-in-neoplastic-and-non-neoplastic-colonic-cells-in-a-different-way
#7
Birgit Niemann, Anke Nemitz, Josephine Werner, Ha Dong Mai, Pablo Steinberg, Alfonso Lampen, Anke Ehlers
SCOPE: Scientific evidence suggests that folic acid (FA) supplementation protects the healthy colonic mucosa from neoplastic transformation but may promote the progression of precancerous lesions. The underlying molecular mechanisms are not fully understood. Therefore, we explored, if high physiological FA doses provoke changes in (i) promoter-specific DNA methylation (ii) expression of cancer-associated micro RNAs (miRNAs) and (iii) inflammatory mediators in human neoplastic and non-neoplastic colonic cell lines...
July 28, 2017: Molecular Nutrition & Food Research
https://www.readbyqxmd.com/read/28749998/lc-ms-ms-multiplex-analysis-of-lysosphingolipids-in-plasma-and-amniotic-fluid-a-novel-tool-for-the-screening-of-sphingolipidoses-and-niemann-pick-type-c-disease
#8
Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan
BACKGROUND: The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma. METHODOLOGY: We developed a sensitive and specific method enabling the simultaneous quantification of lysosphingolipids by LC-MS/MS: lysoglobotriaosylceramide for Fabry disease, lysohexosylceramide (i...
2017: PloS One
https://www.readbyqxmd.com/read/28740230/nmr-analysis-reveals-significant-differences-in-the-plasma-metabolic-profiles-of-niemann-pick-c1-patients-heterozygous-carriers-and-healthy-controls
#9
Fay Probert, Victor Ruiz-Rodado, Danielle Te Vruchte, Elena-Raluca Nicoli, Tim D W Claridge, Christopher A Wassif, Nicole Farhat, Forbes D Porter, Frances M Platt, Martin Grootveld
Niemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage disorder, which presents with a range of clinical phenotypes and hence diagnosis remains a challenge. In view of these difficulties, the search for a novel, NPC1-specific biomarker (or set of biomarkers) is a topic of much interest. Here we employed high-resolution (1)H nuclear magnetic resonance spectroscopy coupled with advanced multivariate analysis techniques in order to explore and seek differences between blood plasma samples acquired from NPC1 (untreated and miglustat treated), heterozygote, and healthy control subjects...
July 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28728811/newborn-screening-for-lysosomal-storage-disorders-in-illinois-the-initial-15-month-experience
#10
Barbara K Burton, Joel Charrow, George E Hoganson, Darrell Waggoner, Brad Tinkle, Stephen R Braddock, Michael Schneider, Dorothy K Grange, Claudia Nash, Heather Shryock, Rebecca Barnett, Rong Shao, Khaja Basheeruddin, George Dizikes
OBJECTIVES: To assess the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois. STUDY DESIGN: Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago. RESULTS: The total number of cases with a positive diagnosis and the incidence for each disorder were as follows: Fabry disease, n = 26 (1 in 8454, including the p...
July 17, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28728743/outcomes-of-st-elevation-myocardial-infarction-complicated-by-out-of-hospital-cardiac-arrest-from-the-los-angeles-county-regional-system
#11
David M Shavelle, Nichole Bosson, Joseph L Thomas, Amy H Kaji, Gene Sung, William J French, James T Niemann
The objective of this study was to evaluate the time to primary percutaneous coronary intervention (PCI) and the outcome for patients with ST elevation myocardial infarction (STEMI) complicated by out-of-hospital cardiac arrest (OHCA). In this regional system, all patients with STEMI and/or OHCA with return of spontaneous circulation were transported to STEMI Receiving Centers. The outcomes registry was queried for patients with STEMI with underwent primary PCI from April 2011 to December 2014. Patients with STEMI complicated by OHCA were compared with a reference group of STEMI without OHCA...
June 15, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28726829/experimental-signatures-of-the-mixed-axial-gravitational-anomaly-in-the-weyl-semimetal-nbp
#12
Johannes Gooth, Anna C Niemann, Tobias Meng, Adolfo G Grushin, Karl Landsteiner, Bernd Gotsmann, Fabian Menges, Marcus Schmidt, Chandra Shekhar, Vicky Süß, Ruben Hühne, Bernd Rellinghaus, Claudia Felser, Binghai Yan, Kornelius Nielsch
The conservation laws, such as those of charge, energy and momentum, have a central role in physics. In some special cases, classical conservation laws are broken at the quantum level by quantum fluctuations, in which case the theory is said to have quantum anomalies. One of the most prominent examples is the chiral anomaly, which involves massless chiral fermions. These particles have their spin, or internal angular momentum, aligned either parallel or antiparallel with their linear momentum, labelled as left and right chirality, respectively...
July 19, 2017: Nature
https://www.readbyqxmd.com/read/28724562/the-role-of-macrophages-in-interstitial-lung-diseases-number-3-in-the-series-pathology-for-the-clinician-edited-by-peter-dorfm%C3%A3-ller-and-alberto-cavazza
#13
Giulio Rossi, Alberto Cavazza, Paolo Spagnolo, Salvatore Bellafiore, Elisabetta Kuhn, Pierpaolo Carassai, Laura Caramanico, Gloria Montanari, Gaia Cappiello, Alessandro Andreani, Francesca Bono, Nazarena Nannini
The finding of collections of macrophages/histiocytes in lung biopsy and bronchoalveolar lavage is relatively common in routine practice. This morphological feature in itself is pathological, but the exact clinical significance and underlying disease should be evaluated together with clinical data, functional respiratory and laboratory tests and imaging studies.Morphological characteristics of macrophages and their distribution along the different pulmonary structures should be examined carefully by pathologists...
September 30, 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28711585/global-outbreak-of-severe-mycobacterium-chimaera-disease-after-cardiac-surgery-a-molecular-epidemiological-study
#14
Jakko van Ingen, Thomas A Kohl, Katharina Kranzer, Barbara Hasse, Peter M Keller, Anna Katarzyna Szafrańska, Doris Hillemann, Meera Chand, Peter Werner Schreiber, Rami Sommerstein, Christoph Berger, Michele Genoni, Christian Rüegg, Nicolas Troillet, Andreas F Widmer, Sören L Becker, Mathias Herrmann, Tim Eckmanns, Sebastian Haller, Christiane Höller, Sylvia B Debast, Maurice J Wolfhagen, Joost Hopman, Jan Kluytmans, Merel Langelaar, Daan W Notermans, Jaap Ten Oever, Peter van den Barselaar, Alexander B A Vonk, Margreet C Vos, Nada Ahmed, Timothy Brown, Derrick Crook, Theresa Lamagni, Nick Phin, E Grace Smith, Maria Zambon, Annerose Serr, Tim Götting, Winfried Ebner, Alexander Thürmer, Christian Utpatel, Cathrin Spröer, Boyke Bunk, Ulrich Nübel, Guido V Bloemberg, Erik C Böttger, Stefan Niemann, Dirk Wagner, Hugo Sax
BACKGROUND: Since 2013, over 100 cases of Mycobacterium chimaera prosthetic valve endocarditis and disseminated disease were notified in Europe and the USA, linked to contaminated heater-cooler units (HCUs) used during cardiac surgery. We did a molecular epidemiological investigation to establish the source of these patients' disease. METHODS: We included 24 M chimaera isolates from 21 cardiac surgery-related patients in Switzerland, Germany, the Netherlands, and the UK, 218 M chimaera isolates from various types of HCUs in hospitals, from LivaNova (formerly Sorin; London, UK) and Maquet (Rastatt, Germany) brand HCU production sites, and unrelated environmental sources and patients, as well as eight Mycobacterium intracellulare isolates...
July 12, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28710748/longitudinal-changes-in-white-matter-fractional-anisotropy-in-adult-onset-niemann-pick-disease-type-c-patients-treated-with-miglustat
#15
Elizabeth A Bowman, Dennis Velakoulis, Patricia Desmond, Mark Walterfang
Niemann-Pick disease type C (NPC) is a rare neurometabolic disorder resulting in impaired intracellular lipid trafficking. The only disease-modifying treatment currently available is miglustat, an iminosugar that inhibits the accumulation of lipid metabolites in neurons and other cells. This longitudinal diffusion tensor imaging (DTI) study examined how the rate of white matter change differed between treated and non-treated adult-onset NPC patient groups. Nine adult-onset NPC patients (seven undergoing treatment with miglustat, two not treated) underwent DTI neuroimaging...
July 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28704947/sponge-inspired-dibromohemibastadin-prevents-and-disrupts-bacterial-biofilms-without-toxicity
#16
Tiffany Le Norcy, Hendrik Niemann, Peter Proksch, Karen Tait, Isabelle Linossier, Karine Réhel, Claire Hellio, Fabienne Faÿ
Since the banning of several families of compounds in antifouling (AF) coatings, the search for environmentally friendly AF compounds has intensified. Natural sources of AF compounds have been identified in marine organisms and can be used to create analogues in laboratory. In a previous study, we identified that dibromohemibastadin-1 (DBHB) is a promising AF molecule, leading to the inhibition of the activity of phenoloxidase, an enzyme involved in the attachment of mussels to surfaces. This paper describes the activity of the DBHB on biofilm formation and its detachment and on bacterial adhesion and communication: quorum sensing...
July 12, 2017: Marine Drugs
https://www.readbyqxmd.com/read/28703765/anti-biofilm-effect-of-biodegradable-coatings-based-on-hemibastadin-derivative-in-marine-environment
#17
Tiffany Le Norcy, Hendrik Niemann, Peter Proksch, Isabelle Linossier, Karine Vallée-Réhel, Claire Hellio, Fabienne Faÿ
Dibromohemibastadin-1 (DBHB) is an already known potent inhibitor of blue mussel phenoloxidase (which is a key enzyme involved in bioadhesion). Within this study, the potentiality of DBHB against microfouling has been investigated. The activity of DBHB was evaluated on key strains of bacteria and microalgae involved in marine biofilm formation and bioassays assessing impact on growth, adhesion and biofilm formation were used. To assess the efficiency of DBHB when included in a matrix, DBHB varnish was prepared and the anti-microfouling activity of coatings was assessed...
July 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28702840/oncolytic-viruses-adenoviruses
#18
REVIEW
Julia Niemann, Florian Kühnel
Tumor-selectively replicating (oncolytic) viruses are promising tools for therapy of solid cancers and have been initially developed to achieve potent tumor lysis with acceptable side effects on healthy tissue. However, in recent years, oncolytic viruses have been recognized as therapeutic vehicles exhibiting multipronged anti-tumoral activity. Apart from direct cytolysis, stimulation of both innate and adaptive tumor-directed immune responses have been recognized as important mechanisms of oncolytic virotherapy, which were probably decisive in achieving the long-term tumor remissions that oncolytic viruses have shown in clinical trials in advanced melanoma...
July 12, 2017: Virus Genes
https://www.readbyqxmd.com/read/28697173/modulating-cancer-cell-survival-by-targeting-intracellular-cholesterol-transport
#19
Omer F Kuzu, Raghavendra Gowda, Mohammad A Noory, Gavin P Robertson
BACKGROUND: Demand for cholesterol is high in certain cancers making them potentially sensitive to therapeutic strategies targeting cellular cholesterol homoeostasis. A potential approach involves disruption of intracellular cholesterol transport, which occurs in Niemann-Pick disease as a result of acid sphingomyelinase (ASM) deficiency. Hence, a class of lysosomotropic compounds that were identified as functional ASM inhibitors (FIASMAs) might exhibit chemotherapeutic activity by disrupting cancer cell cholesterol homoeostasis...
August 8, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28692552/patient-with-niemann-pick-type-c-presenting-with-a-jaw-mass-characterized-with-lymph-node-involvement-by-niemann-pick-cells
#20
Asli İnci, İlyas Okur, Güldal Esendağli, Arzu Okur, Asburçe Olgaç, Fatih S Ezgü, Leyla Tümer
Niemann-Pick type C disease (NPC) is an autosomal recessive disorder resulting in accumulation of unesterified lysosomal cholesterol. An 8-year-old girl with NPC disease had a painless, rigid, and fixed mass measuring 3 cm in diameter located on the left angular region of mandibula. The mass biopsy showed lipid-laden phagocytic cells infiltrating the lymph node consistent with Niemann-Pick cells. In NPC, accumulation of cholesterol in tissues could be seen not only in reticuloendothelial and nervous systems, but also in all systems...
July 7, 2017: Journal of Pediatric Hematology/oncology
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