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Pick's Disease

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https://www.readbyqxmd.com/read/28315682/n-terminal-domain-of-the-cholesterol-transporter-niemann-pick-c1-like-1-npc1l1-is-essential-for-%C3%AE-tocopherol-transport
#1
Jun Kamishikiryo, Misaki Haraguchi, Shunsuke Nakashima, Yuka Tasaka, Hiroe Narahara, Narumi Sugihara, Tetsuya Nakamura, Tetsuo Morita
Both cholesterol and α-tocopherol are essential lipophilic nutrients for humans and animals. Although cholesterol in excess causes severe problems such as coronary heart disease, it is a necessary component of cell membranes and is the precursor for the biosynthesis of steroid hormones and bile acids. Niemann-Pick C1-like 1 (NPC1L1) is a cholesterol transporter that is highly expressed in the small intestine and liver in humans and plays an important role in cholesterol homeostasis. Cholesterol promotes NPC1L1 endocytosis, which is an early step in cholesterol uptake...
March 15, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28302345/newborn-screening-for-six-lysosomal-storage-disorders-in-a-cohort-of-mexican-patients-three-year-findings-from-a-screening-program-in-a-closed-mexican-health-system
#2
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28299982/oligo-ethylene-glycol-modified-%C3%AE-cyclodextrin-based-polyrotaxanes-for-simultaneously-modulating-solubility-and-cellular-internalization-efficiency
#3
Atsushi Tamura, Moe Ohashi, Nobuhiko Yui
We developed stimuli-labile polyrotaxanes (PRXs) composed of β-cyclodextrin (β-CD), Pluronic as an axle polymer, and acid-cleavable N-triphenylmethyl groups as bulky stopper molecules, and found that the PRXs are potent therapeutics for Niemann-Pick type C disease, because the PRX can effectively reduce intracellular cholesterol through the intracellular release of threaded β-CDs. In general, the PRXs need to be chemically modified with hydrophilic functional groups because PRXs are not soluble in aqueous media...
March 16, 2017: Journal of Biomaterials Science. Polymer Edition
https://www.readbyqxmd.com/read/28298389/screening-for-copd-the-gap-between-logic-and-evidence
#4
REVIEW
Alan Kaplan, Mike Thomas
Chronic obstructive pulmonary disease (COPD) is a common disease leading to further morbidity and significant mortality. The first step for any condition is to make the appropriate diagnosis, and spirometry barriers abound in practice around the world. It is tempting to undertake mass screening on all smokers to detect COPD. While this would pick up cases of COPD, results of studies of its effect on COPD end-points such as exacerbations, hospitalisations and mortality are disappointing. As such, aggressive case finding of COPD by screening for symptoms that patients may not themselves perceive is very important in primary care, with subsequent spirometry defining the diagnosis...
January 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28293793/ultrasensitive-and-selective-detection-of-3-repeat-tau-seeding-activity-in-pick-disease-brain-and-cerebrospinal-fluid
#5
Eri Saijo, Bernardino Ghetti, Gianluigi Zanusso, Adrian Oblak, Jennifer L Furman, Marc I Diamond, Allison Kraus, Byron Caughey
The diagnosis and treatment of diseases involving tau-based pathology such as Alzheimer disease and certain frontotemporal dementias is hampered by the inability to detect pathological forms of tau with sufficient sensitivity, specificity and practicality. In these neurodegenerative diseases, tau accumulates in self-seeding filaments. For example, Pick disease (PiD) is associated with frontotemporal degeneration and accumulation of 3-repeat (3R) tau isoforms in filaments constituting Pick bodies. Exploiting the self-seeding activity of tau deposits, and using a 3R tau fragment as a substrate, we have developed an assay (tau RT-QuIC) that can detect tau seeds in 2 µl aliquots of PiD brain dilutions down to 10(-7)-10(-9)...
March 14, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28286906/selection-of-cholesterol-lowering-lactic-acid-bacteria-and-its-effects-on-rats-fed-with-high-cholesterol-diet
#6
Yufang Liu, Fengchun Zhao, Jiye Liu, Huimin Wang, Xiao Han, Yongxin Zhang, Zhengyou Yang
High cholesterol level in serum is a major factor of influence for coronary heart disease. The cholesterol-lowering ability of lactic acid bacteria (LAB) without side effects makes them more and more attractive. Seventy-nine strains of LAB isolated from fermented food were screened in vitro for their ability to assimilate cholesterol. Then, ten strains which exhibited higher ability of cholesterol assimilation were investigated with the characteristics of acidic resistance, bile salt tolerance, and cell adhesion...
March 13, 2017: Current Microbiology
https://www.readbyqxmd.com/read/28286614/is-there-any-concordance-between-of-ihc-with-fish-in-her2-positive-breast-cancer-patients
#7
Mehrdad Payandeh, Masoud Sadeghi, Edris Sadeghi, Alireza Janbakhsh
Background: In developed or developing countries, the most common cancer in women is breast cancer with a pick in 40-50 years in Asia. Herein, we compared the association between IHC with FISH in HER2-positive breast cancer patients and affection of trastuzumab on disease free survival and overall survival (OS). Subjects and Methods: Immunohistochemical (IHC) analysis of hormone receptors and HER2 was performed in 133 patients with breast cancer between 2003 and 2014. Patients were selected for Herceptin adjuvant treatment, according to IHC 3+ or FISH+...
January 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/28283043/birmingham-beh%C3%A3-et-s-service-classification-of-disease-and-application-of-the-2014-international-criteria-for-beh%C3%A3-et-s-disease-icbd-to-a-uk-cohort
#8
Tim Blake, Luke Pickup, David Carruthers, Erika Marie Damato, Alastair Denniston, John Hamburger, Claire Maxton, Debbie Mitton, Philip I Murray, Peter Nightingale, Ana Poveda-Gallego, Andrea Richards, Andrew Whallett, Deva Situnayake
BACKGROUND: This study reports on the analysis of the application and diagnostic predictability of the revised 2014 ICBD criteria in an unselected cohort of UK patients, and the ensuing organ associations and patterns of disease. METHODS: A retrospective cohort study was conducted using a database of electronic medical records. Three categories were recognised: clinically defined BD, incomplete BD and rejected diagnoses of BD. We applied the ISG 1990 and ICBD 2014 classification criteria to these subgroups to validate diagnostic accuracy against the multidisciplinary assessment...
March 11, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28282998/non-traumatic-vertebral-lesions-incremental-utility-of-pet-ct-over-mri-and-fnac-in-a-suggested-diagnostic-algorithm
#9
Rajesh Meena, Ashish Aggarwal, Anish Bhattacharya, Vivek Gupta, Sivashanmugam Dhandapani, Rajesh Chhabra
OBJECTIVE: To prospectively compare positron emission tomography-computed tomography (PET-CT) with conventional magnetic resonance imaging (MRI) and FNAC for diagnosis of non- traumatic vertebral lesions fracture in countries like India where tuberculosis is endemic. METHODS: Fifty four patients with non-traumatic spontaneous vertebral lesions were prospectively studied. All patients underwent CEMRI focusing on the spinal lesions, whole-body PET-CT and FNAC.Results were then analysed and compared with final diagnosis obtained either by FNAC or clinical follow up...
March 10, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28276873/the-hidden-niemann-pick-type-c-patient-clinical-niches-for-a-rare-inherited-metabolic-disease
#10
Christian J Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean-Christophe Corvol, Tom J de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans-Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten, Stefan A Kolb
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C...
March 2, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28272068/rare-disease-heralded-by-pulmonary-manifestations-avoiding-pitfalls-of-an-asthma-label
#11
S Bajaj, M Muranjan, S Karande, D Prabhat
Pulmonary manifestations are seldom recognized as symptoms of storage disorders. The report describes the diagnostic journey in a 30-month-old male infant, born of a third-degree consanguineous marriage referred to our institute as severe persistent asthma. History revealed that the child had progressively worsening breathlessness and persistent dry cough not associated with fever but accompanied by weight loss. On physical examination, there was growth failure, respiratory distress, clubbing, hepatosplenomegaly, and occasional rhonchi...
March 3, 2017: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/28270911/relationship-between-hsp90a-npc2-and-l-pgds-proteins-to-boar-semen-freezability
#12
Julián Valencia, Germán Gómez, Walter López, Henry Mesa, Francisco Javier Henao
BACKGROUND: The purpose of this study was to determine the association of three proteins involved in sperm function on the freezability of porcine semen: the heat shock protein 90 alpha (HSP90a), the Niemann-Pick disease type C2 protein (NPC2), and lipocalin-type prostaglandin D synthase (L-PGDS). Six adult boars (each boar was ejaculated three times, 18 in total) were classified by freezability based on the percentage of functionally competent sperm. The male semen with highest freezability (MHF) and the male semen with lowest freezability (MLF) were centrifuged immediately after collection to separate seminal plasma and spermatozoa to make four possible combinations of these two components and to incubate them for 3 h, adjusting the temperature to 17 °C, to freeze them afterwards...
2017: Journal of Animal Science and Biotechnology
https://www.readbyqxmd.com/read/28262793/characterization-of-cholesterol-homeostasis-in-sphingosine-1-phosphate-lyase-deficient-fibroblasts-reveals-a-niemann-pick-disease-type-c-like-phenotype-with-enhanced-lysosomal-ca-2-storage
#13
Hans Vienken, Nathalie Mabrouki, Katja Grabau, Ralf Frederik Claas, Agnes Rudowski, Nina Schömel, Josef Pfeilschifter, Dieter Lütjohann, Gerhild van Echten-Deckert, Dagmar Meyer Zu Heringdorf
Sphingosine-1-phosphate (S1P) lyase irreversibly cleaves S1P, thereby catalysing the ultimate step of sphingolipid degradation. We show here that embryonic fibroblasts from S1P lyase-deficient mice (Sgpl1(-/-)-MEFs), in which S1P and sphingosine accumulate, have features of Niemann-Pick disease type C (NPC) cells. In the presence of serum, overall cholesterol content was elevated in Sgpl1(-/-)-MEFs, due to upregulation of the LDL receptor and enhanced cholesterol uptake. Despite this, activation of sterol regulatory element-binding protein-2 was increased in Sgpl1(-/-)-MEFs, indicating a local lack of cholesterol at the ER...
March 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28261162/critical-issues-in-mycobiota-analysis
#14
Bettina Halwachs, Nandhitha Madhusudhan, Robert Krause, R Henrik Nilsson, Christine Moissl-Eichinger, Christoph Högenauer, Gerhard G Thallinger, Gregor Gorkiewicz
Fungi constitute an important part of the human microbiota and they play a significant role for health and disease development. Advancements made in the culture-independent analysis of microbial communities have broadened our understanding of the mycobiota, however, microbiota analysis tools have been mainly developed for bacteria (e.g., targeting the 16S rRNA gene) and they often fall short if applied to fungal marker-gene based investigations (i.e., internal transcribed spacers, ITS). In the current paper we discuss all major steps of a fungal amplicon analysis starting with DNA extraction from specimens up to bioinformatics analyses of next-generation sequencing data...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28259515/quantitation-of-plasmatic-lysosphingomyelin-and-lysosphingomyelin-509-for-differential-screening-of-niemann-pick-a-b-and-c-diseases
#15
L Kuchar, J Sikora, M E Gulinello, H Poupetova, A Lugowska, V Malinova, H Jahnova, B Asfaw, J Ledvinova
Acid sphingomyelinase deficiency (ASMd, Niemann-Pick disease A/B) and Niemann-Pick type C disease (NPC) share core clinical symptoms. Initial diagnostic discrimination of these two rare lysosomal storage diseases is thus difficult. As sphingomyelin accumulates in ASMd as well as NPC, lysosphingomyelin (sphingosylphosphorylcholine) and its m/z 509 analog were suggested as biomarkers for both diseases. Herein we present results of simultaneous LC-ESI-MS/MS measurements of lysosphingomyelin and lysosphingomyelin 509 in plasma and dried blood spots (DBS) collected from ASMd and NPC patients and suggest that the plasma but not DBS levels of the two analytes allow differential biochemical screening of ASMd and NPC...
March 1, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28241864/ccl2-and-ccl5-driven-attraction-of-cd172a-monocytic-cells-during-an-equine-herpesvirus-type-1-ehv-1-infection-in-equine-nasal-mucosa-and-the-impact-of-two-migration-inhibitors-rosiglitazone-rsg-and-quinacrine-qc
#16
Jing Zhao, Katrien C K Poelaert, Jolien Van Cleemput, Hans J Nauwynck
Equine herpesvirus type 1 (EHV-1) causes respiratory disease, abortion and neurological disorders in horses. Besides epithelial cells, CD172a(+) monocytic cells become infected with EHV-1 in the respiratory mucosa and transport the virus from the apical side of the epithelium to the lamina propria en route to the lymph and blood circulation. Whether CD172a(+) monocytic cells are specifically recruited to the infection sites in order to pick up virus is unknown. In our study, equine nasal mucosa explants were inoculated with EHV-1 neurological strains 03P37 and 95P105 or the non-neurological strains 97P70 and 94P247 and the migration of monocytic cells was examined by immunofluorescence...
February 27, 2017: Veterinary Research
https://www.readbyqxmd.com/read/28228103/disease-manifestations-and-burden-of-illness-in-patients-with-acid-sphingomyelinase-deficiency-asmd
#17
REVIEW
Margaret M McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 years, most often from respiratory failure. In contrast, the clinical phenotype and life expectancy of patients with NPD B may vary widely...
February 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28222799/assessment-of-plasma-chitotriosidase-activity-ccl18-parc-concentration-and-np-c-suspicion-index-in-the-diagnosis-of-niemann-pick-disease-type-c-a-prospective-observational-study
#18
Isabel De Castro-Orós, Pilar Irún, Jorge Javier Cebolla, Victor Rodriguez-Sureda, Miguel Mallén, María Jesús Pueyo, Pilar Mozas, Carmen Dominguez, Miguel Pocoví
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis of NP-C remains challenging due to the non-specific, heterogeneous nature of signs/symptoms. This study assessed the utility of plasma chitotriosidase (ChT) and Chemokine (C-C motif) ligand 18 (CCL18)/pulmonary and activation-regulated chemokine (PARC) in conjunction with the NP-C suspicion index (NP-C SI) for guiding confirmatory laboratory testing in patients with suspected NP-C...
February 21, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28208854/polymerase-chain-reaction-an-important-tool-for-early-diagnosis-of-leptospirosis-cases
#19
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
#20
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
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