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https://www.readbyqxmd.com/read/28105569/the-spectrum-of-niemann-pick-type-c-disease-in-greece
#1
Irene Mavridou, Evangelia Dimitriou, Marie T Vanier, Lluisa Vilageliu, Daniel Grinberg, Philippe Latour, Athina Xaidara, Lilia Lycopoulou, Sevasti Bostantjopoulou, Dimitrios Zafeiriou, Helen Michelakakis
Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disease caused by mutations in either the NPC1 or the NPC2 gene. It is a cellular lipid trafficking disorder characterized by the accumulation of unesterified cholesterol and various sphingolipids in the lysosomes and late endosomes, and it exhibits a broad clinical spectrum. Today, over 420 disease-causing mutations have been identified in the NPC1 and the NPC2 genes. We present the clinical, biochemical, and molecular findings in 14 cases diagnosed in Greece during the last 28 years...
January 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28100881/transporters-for-the-intestinal-absorption-of-cholesterol-vitamin-e-and-vitamin-k
#2
Yoshihide Yamanashi, Tappei Takada, Ryoya Kurauchi, Yusuke Tanaka, Toko Komine, Hiroshi Suzuki
Humans cannot synthesize fat-soluble vitamins such as vitamin E and vitamin K. For this reason, they must be obtained from the diet via intestinal absorption. As the deficiency or excess of these vitamins has been reported to cause several types of diseases and disorders in humans, the intestinal absorption of these nutrients must be properly regulated to ensure good health. However, the mechanism of their intestinal absorption remains poorly understood. Recent studies on cholesterol using genome-edited mice, genome-wide association approaches, gene mutation analyses, and the development of cholesterol absorption inhibitors have revealed that several membrane proteins play crucial roles in the intestinal absorption of cholesterol...
January 17, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28100105/inventing-a-co-axial-atomic-resolution-patch-clamp-to-study-a-single-resonating-protein-complex-and-ultra-low-power-communication-deep-inside-a-living-neuron-cell
#3
Subrata Ghosh, Satyajit Sahu, Lokesh Agrawal, Takashi Shiga, Anirban Bandyopadhyay
To read the signals of single molecules in vitro on a surface, or inside a living cell or organ, we introduce a coaxial atom tip (coat) and a coaxial atomic patch clamp (COAPAP). The metal-insulator-metal cavity of these probes extends to the atomic scale (0.1[Formula: see text]nm), it eliminates the cellular or environmental noise with a S/N ratio 10(5). Five ac signals are simultaneously applied during a measurement by COAT and COAPAP to shield a true signal under environmental noise in five unique ways. The electromagnetic drive in the triaxial atomic tips is specifically designed to sense anharmonic vibrational and transmission signals for any systems between 0...
January 18, 2017: Journal of Integrative Neuroscience
https://www.readbyqxmd.com/read/28099679/clinical-outcomes-for-couples-containing-a-reciprocal-chromosome-translocation-carrier-without-preimplantation-genetic-diagnosis
#4
Biao Yin, Yuanchang Zhu, Tonghua Wu, Shuqiu Shen, Yong Zeng, Desheng Liang
OBJECTIVE: To evaluate the pregnancy outcomes of couples containing a carrier of a reciprocal chromosome translocation (RCT) after assisted reproductive technology without preimplantation genetic diagnosis. METHODS: A retrospective study was performed using data for couples with an RCT carrier and control couples with a normal karyotype (1:4 ratio) who underwent assisted reproductive technology cycles at a Chinese fertility center in 2010-2011. The embryos were fertilized via in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI)...
November 15, 2016: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28098464/clustering-of-uracil-molecules-on-ice-nanoparticles
#5
Andriy Pysanenko, Jaroslav Kocisek, Dana Nachtigallova, Viktoriya Poterya, Michal Farnik
We generate a molecular beam of ice nanoparticles (H2O)N, N ∼130 - 220, which pick up several individual gas phase uracil (U) or 5-bromouracil (BrU) molecules. The mass spectra of the doped nanoparticles prove that the uracil and bromouracil molecules coagulate to clusters on the ice nanoparticles. Calculations of U and BrU monomers and dimers on the ice nanoparticles provide theoretical support for the cluster formation. The (U)nH(+) and (BrU)nH(+) intensity dependencies on m extracted from the mass spectra suggest a smaller tendency of BrU to coagulate compared to U, which is substantiated by a lower mobility of bromouracil on the ice surface...
January 18, 2017: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/28097614/comprehensive-and-medically-appropriate-food-support-is-associated-with-improved-hiv-and-diabetes-health
#6
Kartika Palar, Tessa Napoles, Lee L Hufstedler, Hilary Seligman, Fredrick M Hecht, Kimberly Madsen, Mark Ryle, Simon Pitchford, Edward A Frongillo, Sheri D Weiser
Food insecurity is associated with negative chronic health outcomes, yet few studies have examined how providing medically appropriate food assistance to food-insecure individuals may improve health outcomes in resource-rich settings. We evaluated a community-based food support intervention in the San Francisco Bay Area for people living with HIV and/or type 2 diabetes mellitus (T2DM) to determine the feasibility, acceptability, and potential impact of the intervention on nutritional, mental health, disease management, healthcare utilization, and physical health outcomes...
January 17, 2017: Journal of Urban Health: Bulletin of the New York Academy of Medicine
https://www.readbyqxmd.com/read/28095804/pulmonary-manifestations-in-niemann-pick-type-c-disease-with-mutations-in-npc2-gene-case-report-and-review-of-literature
#7
Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth
BACKGROUND: Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene. CASE PRESENTATION: Case-1, a 14-months-old female presented with recurrent respiratory distress, failure to thrive and hepatosplenomegaly...
January 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28095177/integrated-colony-imaging-analysis-and-selection-device-for-regenerative-medicine
#8
Edward Kwee, Edward E Herderick, Thomas Adams, James Dunn, Robert Germanowski, Frank Krakosh, Cynthia Boehm, James Monnich, Kimerly Powell, George Muschler
Stem and progenitor cells derived from human tissues are being developed as cell sources for cell-based assays and therapies. However, tissue-derived stem and progenitor cells are heterogeneous. Differences in observed clones of stem cells likely reflect important aspects of the underlying state of the source cells, as well as future potency for cell therapies. This paper describes a colony analysis and picking device that provides quantitative analysis of heterogeneous cell populations and precise tools for cell picking for research or biomanufacturing applications...
November 1, 2016: Journal of Laboratory Automation
https://www.readbyqxmd.com/read/28095017/spectrum-of-xanthogranulomatous-processes-in-the-abdomen-and-pelvis-a-pictorial-review-of-infectious-inflammatory-and-proliferative-responses
#9
Kelsey S Bourm, Christine O Menias, Kamran Ali, Kinan Alhalabi, Khaled M Elsayes
OBJECTIVE: Xanthogranulomatous (XG) processes are rare inflammatory conditions with the characteristic pathologic feature of lipid-laden macrophages or histiocyte cells. Imaging findings are nonspecific and can simulate aggressive neoplastic processes. XG processes can be caused by infection, inflammation, histolytic process, or an inherited lysosomal disorder. XG infectious processes are mainly seen in cholecystitis and pyelonephritis, but several other organs can also be involved. Histiocytic processes can be divided into Langerhans and non-Langerhans cell histiocytosis...
January 17, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28092902/morphology-of-niemann-pick-type-c-metabolic-storage-disorder
#10
Robin M Ireland
No abstract text is available yet for this article.
August 25, 2016: Blood
https://www.readbyqxmd.com/read/28092897/bone-marrow-smear-examination-in-the-diagnosis-of-niemann-pick-b-disease
#11
Barbara Foucher, Liliana Vila
No abstract text is available yet for this article.
August 4, 2016: Blood
https://www.readbyqxmd.com/read/28092562/line-graph-or-scatter-plot-automatic-selection-of-methods-for-visualizing-trends-in-time-series
#12
Yunhai Wang, Fubo Han, Lifeng Zhu, Oliver Deussen, Baoquan Chen
Line graphs are usually considered to be the best choice for visualizing time series data, whereas sometimes also scatter plots are used for showing main trends. So far there are no guidelines that indicate which of these visualization methods better display trends in time series for a given canvas. Assuming that the main information in a time series is its overall trend, we propose an algorithm that automatically picks the visualization method that reveals this trend best. This is achieved by measuring the visual consistency between the trend curve represented by a LOESS fit and the trend described by a scatter plot or a line graph...
January 16, 2017: IEEE Transactions on Visualization and Computer Graphics
https://www.readbyqxmd.com/read/28092091/preliminary-results-on-long-term-potentiation-like-cortical-plasticity-and-cholinergic-dysfunction-after-miglustat-treatment-in-niemann-pick-disease-type-c
#13
Alberto Benussi, Maria Sofia Cotelli, Maura Cosseddu, Valeria Bertasi, Marinella Turla, Ettore Salsano, Andrea Dardis, Alessandro Padovani, Barbara Borroni
Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder, which manifests clinically with a wide range of neurological signs and symptoms. We assessed multiple neurological, neuropsychological and neurophysiological biomarkers using a transcranial magnetic stimulation (TMS) multi-paradigm approach in two patients with NPC carrying a homozygous mutation in the NPC1 gene, and in two heterozygous family members.We assessed short-interval intracortical inhibition (SICI), intracortical facilitation (ICF), long-interval intracortical inhibition (LICI), short-latency afferent inhibition (SAI) and long-term potentiation (LTP)-like cortical plasticity with a paired associative stimulation (PAS) protocol...
January 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28087578/distinct-binding-of-pet-ligands-pbb3-and-av-1451-to-tau-fibril-strains-in-neurodegenerative-tauopathies
#14
Maiko Ono, Naruhiko Sahara, Katsushi Kumata, Bin Ji, Ruiqing Ni, Shunsuke Koga, Dennis W Dickson, John Q Trojanowski, Virginia M-Y Lee, Mari Yoshida, Isao Hozumi, Yasumasa Yoshiyama, John C van Swieten, Agneta Nordberg, Tetsuya Suhara, Ming-Rong Zhang, Makoto Higuchi
Diverse neurodegenerative disorders are characterized by deposition of tau fibrils composed of conformers (i.e. strains) unique to each illness. The development of tau imaging agents has enabled visualization of tau lesions in tauopathy patients, but the modes of their binding to different tau strains remain elusive. Here we compared binding of tau positron emission tomography ligands, PBB3 and AV-1451, by fluorescence, autoradiography and homogenate binding assays with homologous and heterologous blockades using tauopathy brain samples...
January 12, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28087213/cholesterolomics-an-update
#15
William J Griffiths, Jonas Abdel-Khalik, Eylan Yutuc, Alwena H Morgan, Ian Gilmore, Thomas Hearn, Yuqin Wang
Cholesterolomics can be regarded as the identification and quantification of cholesterol, its precursors post squalene, and metabolites of cholesterol and of its precursors, in a biological sample. These molecules include 1,25-dihydroxyvitamin D3, steroid hormones and bile acids and intermediates in their respective biosynthetic pathways. In this short article we will concentrate our attention on intermediates in bile acid biosynthesis pathways, in particular oxysterols and cholestenoic acids. These molecular classes are implicated in the aetiology of a diverse array of diseases including autoimmune disease, Parkinson's disease, motor neuron disease, breast cancer, the lysosomal storage disease Niemann-Pick type C and the autosomal recessive disorder Smith-Lemli-Opitz syndrome...
January 10, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28078196/prosthetic-jamming-terminal-device-a-case-study-of-untethered-soft-robotics
#16
Nadia Cheng, John Amend, Todd Farrell, Debra Latour, Carlos Martinez, Jen Johansson, Anthony McNicoll, Marek Wartenberg, Samuel Naseef, William Hanson, William Culley
This article illuminates the major and often overlooked challenge of untethering soft robotic systems through the context of recent work, in which soft robotic gripper technology enabled by jamming of granular media was applied to a prosthetic jamming terminal device (PJTD). The PJTD's technical and market feasibility was evaluated in a pilot study with two upper-limb amputees. A PJTD prototype was tested against a commercial device (Motion Control electric terminal service with a one degree-of-freedom pinching mechanism) using two existing hand function tests: the first quantified the device's speed in picking and placing small blocks and the second evaluated a person's ability to perform activities of daily living (ADLs)...
December 1, 2016: Soft Robotics
https://www.readbyqxmd.com/read/28077716/the-attraction-effect-modulates-reward-prediction-errors-and-intertemporal-choices
#17
Sebastian Gluth, Jared M Hotaling, Jörg Rieskamp
: Classical economic theory contends that the utility of a choice option should be independent of other options. This view is challenged by the attraction effect, in which the relative preference between two options is altered by the addition of a third, asymmetrically dominated option. Here, we leveraged the attraction effect in the context of intertemporal choices to test whether both decisions and reward prediction errors (RPE) in the absence of choice violate the independence of irrelevant alternatives principle...
January 11, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28077434/transfer-of-allogeneic-cd4-t-cells-rescues-cd8-t-cells-in-anti-pd-l1-resistant-tumors-leading-to-tumor-eradication
#18
Ainhoa Arina, Theodore G Karrison, Eva Galka, Karin Schreiber, Ralph R Weichselbaum, Hans Schreiber
Adoptively transferred CD8(+) T cells can stabilize the size of solid tumors over long periods of time by exclusively recognizing antigen cross-presented on tumor stroma. However, these tumors eventually escape T cell-mediated growth control. The aim of this study was to eradicate such persistent cancers. In our model, the SIYRYYGL antigen is expressed by cancer cells that lack the MHC-I molecule K(b) needed for direct presentation, but the antigen is picked up and cross-presented by tumor stroma. A single injection of antigen-specific 2C CD8(+) T cells caused long-term inhibition of tumor growth, but without further intervention, tumors started to progress after approximately 3 months...
January 11, 2017: Cancer Immunology Research
https://www.readbyqxmd.com/read/28077166/threonine-175-a-novel-pathological-phosphorylation-site-on-tau-protein-linked-to-multiple-tauopathies
#19
Alexander J Moszczynski, Wencheng Yang, Robert Hammond, Lee Cyn Ang, Michael J Strong
Microtubule associated protein tau (tau) deposition is associated with a spectrum of neurodegenerative diseases collectively termed tauopathies. We have previously shown that amyotrophic lateral sclerosis (ALS) with cognitive impairment (ALSci) is associated with tau phosphorylation at Thr(175) and that this leads to activation of GSK3β which then induces phosphorylation at tau Thr(231). This latter step leads to dissociation of tau from microtubules and pathological tau fibril formation. To determine the extent to which this pathway is unique to ALS, we have investigated the expression of pThr(175) tau and pThr(231) tau across a range of frontotemporal degenerations...
January 11, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28075296/a-dangerous-game
#20
James Buchan
The government's ending of the cap on nurse training places in 2017 in England was a calculated gamble. The hope was to contain public funding for nurse education while encouraging growth in nursing student numbers by using other funding models. In short, more nurses are being trained, but someone else is picking up the tab.
January 11, 2017: Nursing Standard
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