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Pick's Disease

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https://www.readbyqxmd.com/read/28208854/polymerase-chain-reaction-an-important-tool-for-early-diagnosis-of-leptospirosis-cases
#1
Summaiya Mullan, Tanvi Harivadanbhai Panwala
INTRODUCTION: Various diagnostic methods like Microscopic Agglutination Test (MAT), IgM ELISA, Isolation of Leptospira from the clinical specimen, Rapid leptocheck tests etc., are available for diagnosis of leptospirosis. Polymerase Chain Reaction (PCR) is used for diagnosis of various diseases of infectious origin including leptospirosis but there is paucity of data about comparison of PCR with other available method of diagnosis of leptospirosis. AIM: The aim of the study was to detect the leptospiral DNA by PCR method and to compare the results of PCR with other available diagnostic methods used for diagnosis of suspected leptospirosis cases in acute phase of illness...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28205173/measurement-of-mitochondrial-cholesterol-import-using-a-mitochondria-targeted-cyp11a1-fusion-construct
#2
Barry E Kennedy, Mark Charman, Barbara Karten
All animal membranes require cholesterol as an essential regulator of biophysical properties and function, but the levels of cholesterol vary widely among different subcellular compartments. Mitochondria, and in particular the inner mitochondrial membrane, have the lowest levels of cholesterol in the cell. Nevertheless, mitochondria need cholesterol for membrane maintenance and biogenesis, as well as oxysterol, steroid, and hepatic bile acid production. Alterations in mitochondrial cholesterol have been associated with a range of pathological conditions, including cancer, hepatosteatosis, cardiac ischemia, Alzheimer's, and Niemann-Pick Type C Disease...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28205168/crispr-cas9-mediated-generation-of-niemann-pick-c1-knockout-cell-line
#3
Ximing Du, Ivan Lukmantara, Hongyuan Yang
Generating a cholesterol storage phenotype of Niemann-Pick Type C (NPC) disease is important for investigating the mechanisms of intracellular cholesterol trafficking, as well as screening drugs for potential treatment of NPC disease. The use of the CRISPR/Cas9 technology to knockout specific genes within the genome of mammals has become routine in the past few years. Here, we describe a protocol for producing a cellular NPC cholesterol storage phenotype in HeLa cells using the CRISPR-Cas9 system to disrupt the NPC1 gene...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28203333/anesthetic-management-in-a-child-with-niemann-pick-disease
#4
Ebrahim Espahbodi, Amir Abbas Yaghooti, Abbas Ostadalipour, Shaqayeq Marashi
Niemann-Pick is a lipid storage disease that results from a lysosomal enzyme deficiency (sphingomyelinase). It has different presentations, and it may affect various organs such as the central nervous system, kidney, liver, and spleen. Due to the complexity of the disease, careful perianesthetic management is necessary in order to reduce the risks and sequels. As there is little evidence available in the literature regarding the anesthetic implications of such patients, in this case report we describe the anesthetic management of a two-year-old female with Niemann-Pick disease...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28203025/-trigemino-cardiac-reflex-in-skull-base-surgery
#5
H Z Duan, Y Zhang, L Li, J Y Zhang, Z Q Yi, S D Bao
OBJECTIVE: To explore the mechanism, clinical features, and prognosis of Trigemino-cardiac reflex (TCR) during skull base operations. METHODS: A retrospective analysis was performed on 291 patients with skull base disease from Jan. 2009 to Oct. 2015 in Peking University First Hospital. By reviewing the patients' operative data and anaesthetic electrical record, and we picked out all the patients who suffered from TCR during the operation and analyzed their surgical procedures, clinical features, influence factors, and prognosis...
February 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28199197/childhood-cancers-and-systems-medicine
#6
William L Stone, Kathryn J Klopfenstein, M J Hajianpour, Marcela I Popescu, Cathleen M Cook, Koymangalath Krishnan
Despite major advances in treatment, pediatric cancers in the 5-16 age group remain the most common cause of disease death, and one out of eight children with cancer will not survive. Among children that do survive, some 60% suffer from late effects such as cancer recurrence and increased risk of obesity. This paper will provide a broad overview of pediatric oncology in the context of systems medicine. Systems medicine utilizes an integrative approach that relies on patient information gained from omics technology...
March 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28197106/inhibition-of-intermediate-conductance-calcium-activated-k-channel-kca3-1-and-fibroblast-mitogenesis-by-%C3%AE-linolenic-acid-and-alterations-of-channel-expression-in-the-lysosomal-storage-disorders-fabry-disease-and-niemann-pick-c
#7
Aida Oliván-Viguera, Javier Lozano-Gerona, Laura López de Frutos, Jorge J Cebolla, Pilar Irún, Edgar Abarca-Lachen, Ana J García-Malinis, Ángel Luis García-Otín, Yolanda Gilaberte, Pilar Giraldo, Ralf Köhler
The calcium/calmodulin-gated KCa3.1 channel regulates normal and abnormal mitogenesis by controlling K(+)-efflux, cell volume, and membrane hyperpolarization-driven calcium-entry. Recent studies suggest modulation of KCa3.1 by omega-3 fatty acids as negative modulators and impaired KCa3.1 functions in the inherited lysosomal storage disorder (LSD), Fabry disease (FD). In the first part of present study, we characterize KCa3.1 in murine and human fibroblasts and test the impact of omega-3 fatty acids on fibroblast proliferation...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28193631/histone-deacetylase-inhibitors-correct-the-cholesterol-storage-defect-in-most-npc1-mutant-cells
#8
Nina H Pipalia, Kanagaraj Subramanian, Shu Mao, Harold Ralph, Darren M Hutt, Samantha M Scott, William E Balch, Frederick R Maxfield
Niemann Pick C disease (NPC) is an autosomal recessive disorder that leads to excessive storage of cholesterol and other lipids in late endosomes and lysosomes. The large majority of NPC disease is caused by mutations in NPC1, a large polytopic membrane protein that functions in late endosomes. There are many disease-associated mutations in NPC1, and most patients are compound heterozygotes. The most common mutation NPC1I1061T has been shown to cause endoplasmic reticulum associated degradation of the NPC1 protein...
February 13, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28185534/effect-of-inhibition-of-intestinal-cholesterol-absorption-on-the-prevention-of-cholesterol-gallstone-formation
#9
Piero Portincasa, David Q-H Wang
BACKGROUND: Cholesterol cholelithiasis is a multifactorial hepatobiliary disease. METHODS: Interactions between genetic and environmental factors play a critical role in biliary cholesterol homeostasis and its imbalance enhances cholelithogenesis. RESULTS: In patients developing symptoms or complications of gallstone disease, laparoscopic cholecystectomy is recommended for treatment of gallstones. In a subgroup of patients with small, radiolucent pure cholesterol gallstones, the hydrophilic bile acid, ursodeoxycholic acid (UDCA) is still considered only pharmacological therapy able to induce oral litholysis...
February 9, 2017: Medicinal Chemistry
https://www.readbyqxmd.com/read/28179943/synthesis-of-multi-lactose-appended-%C3%AE-cyclodextrin-and-its-cholesterol-lowering-effects-in-niemann-pick-type-c-disease-like-hepg2-cells
#10
Keiichi Motoyama, Rena Nishiyama, Yuki Maeda, Taishi Higashi, Yoichi Ishitsuka, Yuki Kondo, Tetsumi Irie, Takumi Era, Hidetoshi Arima
Niemann-Pick type C (NPC) disease, characterized by intracellular accumulation of unesterified cholesterol and other lipids owing to defects in two proteins NPC1 and NPC2, causes neurodegeneration and other fatal neurovisceral symptoms. Currently, treatment of NPC involves the use of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD). HP-β-CD is effective in the treatment of hepatosplenomegaly in NPC disease, albeit at a very high dose. One of the methods to reduce the required dose of HP-β-CD for treatment of NPC is to actively targeting hepatocytes with β-cyclodextrin (β-CD)...
2017: Beilstein Journal of Organic Chemistry
https://www.readbyqxmd.com/read/28167918/quantifying-effects-of-pharmacological-blockers-of-cardiac-autonomous-control-using-variability-parameters
#11
Renata Miyabara, Karsten Berg, Jan F Kraemer, Ovidiu C Baltatu, Niels Wessel, Luciana A Campos
Objective: The aim of this study was to identify the most sensitive heart rate and blood pressure variability (HRV and BPV) parameters from a given set of well-known methods for the quantification of cardiovascular autonomic function after several autonomic blockades. Methods: Cardiovascular sympathetic and parasympathetic functions were studied in freely moving rats following peripheral muscarinic (methylatropine), β1-adrenergic (metoprolol), muscarinic + β1-adrenergic, α1-adrenergic (prazosin), and ganglionic (hexamethonium) blockades...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28167864/ezetimibe-reduces-cholesterol-content-and-nf-kappab-activation-in-liver-but-not-in-intestinal-tissue-in-guinea-pigs
#12
Peter Fraunberger, Elisabeth Gröne, Hermann-Josef Gröne, Heinz Drexel, Autar K Walli
BACKGROUND: Statins (HMG CoA reductase inhibitors), in addition to reducing circulating cholesterol and incidence of coronary heart disease, also have pleiotropic, anti-inflammatory effects. Patients with chronic liver diseases, non-alcoholic fatty liver disease (NAFLD) or hepatitis C are often excluded from statin therapy because of adverse effects in a small cohort of patients despite increased cardiovascular risk cholesterol. Ezetimibe, which inhibits cholesterol absorption by inhibition of Niemann-Pick C1 like 1 (NPC1L1) protein in the brush border of intestinal cells, has been suggested as a new therapeutic option in these patients...
2017: Journal of Inflammation
https://www.readbyqxmd.com/read/28167839/new-murine-niemann-pick-type-c-models-bearing-a-pseudoexon-generating-mutation-recapitulate-the-main-neurobehavioural-and-molecular-features-of-the-disease
#13
Marta Gómez-Grau, Júlia Albaigès, Josefina Casas, Carme Auladell, Mara Dierssen, Lluïsa Vilageliu, Daniel Grinberg
Niemann-Pick disease type C (NPC) is a rare neurovisceral disease caused mainly by mutations in the NPC1 gene. This autosomal recessive lysosomal disorder is characterised by the defective lysosomal secretion of cholesterol and sphingolipids. No effective therapy exists for the disease. We previously described a deep intronic point mutation (c.1554-1009 G > A) in NPC1 that generated a pseudoexon, which could be corrected at the cellular level using antisense oligonucleotides. Here, we describe the generation of two mouse models bearing this mutation, one in homozygosity and the other in compound heterozygosity with the c...
February 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28164782/types-a-and-b-niemann-pick-disease
#14
REVIEW
Edward H Schuchman, Robert J Desnick
The eponym Niemann-Pick disease (NPD) refers to a group of patients who present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Due to the pioneering work of Roscoe Brady and co-workers, we now know that there are two distinct metabolic abnormalities that account for NPD. The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM; "types A & B" NPD), and the second is due to defective function in cholesterol transport ("type C" NPD)...
January 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28155026/early-experience-with-compassionate-use-of-2-hydroxypropyl-beta-cyclodextrin-for-niemann-pick-type-c-disease-review-of-initial-published-cases
#15
REVIEW
Juan Eduardo Megías-Vericat, Ana García-Robles, María José Company-Albir, María José Fernández-Megía, Francisco Carlos Pérez-Miralles, Eduardo López-Briz, Bonaventura Casanova, José Luis Poveda
Niemann-Pick type C (NP-C) is a rare neurodegenerative disorder. Management is mainly supportive and symptomatic. The investigational use of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) showed a promising role in treating NP-C, although efficacy and safety have not been established. We conducted searches of MEDLINE, Cochrane, EMBASE, and other databases of reported cases of HP-β-CD compassionate use in NP-C disease. Sixteen reported cases were eligible, including evaluable information of 17 patients. The median onset age of HP-β-CD was 14 years (range 2-49 years)...
February 2, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28154130/trifunctional-lipid-probes-for-comprehensive-studies-of-single-lipid-species-in-living-cells
#16
Doris Höglinger, André Nadler, Per Haberkant, Joanna Kirkpatrick, Martina Schifferer, Frank Stein, Sebastian Hauke, Forbes D Porter, Carsten Schultz
Lipid-mediated signaling events regulate many cellular processes. Investigations of the complex underlying mechanisms are difficult because several different methods need to be used under varying conditions. Here we introduce multifunctional lipid derivatives to study lipid metabolism, lipid-protein interactions, and intracellular lipid localization with a single tool per target lipid. The probes are equipped with two photoreactive groups to allow photoliberation (uncaging) and photo-cross-linking in a sequential manner, as well as a click-handle for subsequent functionalization...
February 2, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28153452/adenosine-receptors-modulators-of-lipid-availability-that-are-controlled-by-lipid-levels
#17
REVIEW
Andrea Leiva, Enrique Guzmán-Gutiérrez, Susana Contreras-Duarte, Bárbara Fuenzalida, Claudette Cantin, Lorena Carvajal, Rocío Salsoso, Jaime Gutiérrez, Fabián Pardo, Luis Sobrevia
Adenosine as well as agonists and antagonists for the four adenosine receptor subtypes (A1R, A2AR, A2BR and A3R) play a role in several key physiological and pathophysiological processes, including the regulation of vascular tone, thrombosis, immune response, inflammation, and angiogenesis. This review focuses on the adenosine-mediated regulation of lipid availability in the cell and in the systemic circulation as well in humans and animal models. Therefore, adenosine, mainly by acting on A1R, inhibits lipolysis activity, leading to reduction of the circulating fatty acid levels...
January 30, 2017: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/28152335/association-between-age-and-time-from-calving-and-reported-lameness-in-a-dairy-herd-in-the-waikato-region-of-new-zealand
#18
W Mason
CASE HISTORY: During the 2014/2015 season 823 predominantly Holstein-Friesian cows calved on a pasture-based farm in the Waikato region of New Zealand. A high prevalence and recurrence rate of lameness had been noted for several years but cows feet were not routinely picked up and therapeutically trimmed. CLINICAL FINDINGS: At a farm visit in December 2015, 23 cows feet were examined and 18/23 (78%) cows had white line disease and 17/23 (74%) sole haemorrhages, as well as severely overgrown and misshapen hooves...
February 2, 2017: New Zealand Veterinary Journal
https://www.readbyqxmd.com/read/28148276/evolution-of-structural-neuroimaging-biomarkers-in-a-series-of-adult-patients-with-niemann-pick-type-c-under-treatment
#19
Marion Masingue, Isaac Adanyeguh, Yann Nadjar, Frédéric Sedel, Damien Galanaud, Fanny Mochel
BACKGROUND: Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs. As substrate reduction therapy with miglustat is now used in almost all patients, its efficacy and the course of the disease are sometimes difficult to evaluate. Neuroimaging biomarkers could prove useful in this matter. We first performed a retrospective analysis of volumetric and diffusion tensor imaging (DTI) data on 13 adult NPC patients compared to 13 controls of similar age and sex...
February 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28134274/a-novel-approach-to-analyze-lysosomal-dysfunctions-through-subcellular-proteomics-and-lipidomics-the-case-of-npc1-deficiency
#20
Arun Kumar Tharkeshwar, Jesse Trekker, Wendy Vermeire, Jarne Pauwels, Ragna Sannerud, David A Priestman, Danielle Te Vruchte, Katlijn Vints, Pieter Baatsen, Jean-Paul Decuypere, Huiqi Lu, Shaun Martin, Peter Vangheluwe, Johannes V Swinnen, Liesbet Lagae, Francis Impens, Frances M Platt, Kris Gevaert, Wim Annaert
Superparamagnetic iron oxide nanoparticles (SPIONs) have mainly been used as cellular carriers for genes and therapeutic products, while their use in subcellular organelle isolation remains underexploited. We engineered SPIONs targeting distinct subcellular compartments. Dimercaptosuccinic acid-coated SPIONs are internalized and accumulate in late endosomes/lysosomes, while aminolipid-SPIONs reside at the plasma membrane. These features allowed us to establish standardized magnetic isolation procedures for these membrane compartments with a yield and purity permitting proteomic and lipidomic profiling...
January 30, 2017: Scientific Reports
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