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https://www.readbyqxmd.com/read/27911827/tau-prions-from-alzheimer-s-disease-and-chronic-traumatic-encephalopathy-patients-propagate-in-cultured-cells
#1
Amanda L Woerman, Atsushi Aoyagi, Smita Patel, Sabeen A Kazmi, Iryna Lobach, Lea T Grinberg, Ann C McKee, William W Seeley, Steven H Olson, Stanley B Prusiner
Tau prions are thought to aggregate in the central nervous system, resulting in neurodegeneration. Among the tauopathies, Alzheimer's disease (AD) is the most common, whereas argyrophilic grain disease (AGD), corticobasal degeneration (CBD), chronic traumatic encephalopathy (CTE), Pick's disease (PiD), and progressive supranuclear palsy (PSP) are less prevalent. Brain extracts from deceased individuals with PiD, a neurodegenerative disorder characterized by three-repeat (3R) tau prions, were used to infect HEK293T cells expressing 3R tau fused to yellow fluorescent protein (YFP)...
November 28, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27902765/loss-of-cathepsin-b-and-l-leads-to-lysosomal-dysfunction-npc-like-cholesterol-sequestration-and-accumulation-of-the-key-alzheimer-s-proteins
#2
Stjepko Cermak, Marko Kosicek, Aleksandra Mladenovic-Djordjevic, Kosara Smiljanic, Selma Kanazir, Silva Hecimovic
Proper function of lysosomes is particularly important in neurons, as they cannot dilute accumulated toxic molecules and aggregates by cell division. Thus, impairment of lysosomal function plays an important role in neuronal degeneration and in the pathogenesis of numerous neurodegenerative diseases. In this work we analyzed how inhibition and/or loss of the major lysosomal proteases, the cysteine cathepsins B and L (CtsB/L), affects lysosomal function, cholesterol metabolism and degradation of the key Alzheimer's disease (AD) proteins...
2016: PloS One
https://www.readbyqxmd.com/read/27900365/genome-sequencing-in-a-case-of-niemann-pick-type-c
#3
Max Dougherty, John Lazar, Jason C Klein, Karina Diaz, Theodore Gobillot, Eli Grunblatt, Nicholas Hasle, Daniel Lawrence, Megan Maurano, Maria Nelson, Gregory Olson, Sanjay Srivatsan, Jay Shendure, C Dirk Keene, Thomas Bird, Marshall S Horwitz, Desiree A Marshall
Adult-onset Niemann-Pick disease type C (NPC) is an infrequent presentation of a rare neurovisceral lysosomal lipid storage disorder caused by autosomal recessive mutations in NPC1 (∼95%) or NPC2 (∼5%). Our patient was diagnosed at age 33 when he presented with a 10-yr history of difficulties in judgment, concentration, speech, and coordination. A history of transient neonatal jaundice and splenomegaly with bone marrow biopsy suggesting a lipid storage disorder pointed to NPC; biochemical ("variant" level cholesterol esterification) and ultrastructural studies in adulthood confirmed the diagnosis...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27900236/identification-of-two-sulfated-cholesterol-metabolites-found-in-the-urine-of-a-patient-with-niemann-pick-disease-type-c-as-novel-candidate-diagnostic-markers
#4
Masamitsu Maekawa, Kaoru Omura, Shoutaro Sekiguchi, Takashi Iida, Daisuke Saigusa, Hiroaki Yamaguchi, Nariyasu Mano
In the urine of a Niemann-Pick disease type C (NPC) patient, we have identified three characteristic intense peaks that have not been observed in the urine of a 3β-hydroxysteroid-Δ(5)-C27-steroid dehydrogenase deficiency patient or a healthy infant and adult. Based on accurate masses of the protonated molecules, we focused on two of them as candidate NPC diagnostic markers. Two synthesized authentic preparations agreed with the two compounds found in NPC patient urine in regard to both chromatographic behavior and accurate masses of the deprotonated molecules...
2016: Mass Spectrometry
https://www.readbyqxmd.com/read/27895719/drabal-novel-method-to-mine-large-high-throughput-screening-assays-using-bayesian-active-learning
#5
Othman Soufan, Wail Ba-Alawi, Moataz Afeef, Magbubah Essack, Panos Kalnis, Vladimir B Bajic
BACKGROUND: Mining high-throughput screening (HTS) assays is key for enhancing decisions in the area of drug repositioning and drug discovery. However, many challenges are encountered in the process of developing suitable and accurate methods for extracting useful information from these assays. Virtual screening and a wide variety of databases, methods and solutions proposed to-date, did not completely overcome these challenges. This study is based on a multi-label classification (MLC) technique for modeling correlations between several HTS assays, meaning that a single prediction represents a subset of assigned correlated labels instead of one label...
2016: Journal of Cheminformatics
https://www.readbyqxmd.com/read/27888692/mitochondrial-gsh-replenishment-as-a-potential-therapeutic-approach-for-niemann-pick-type-c-disease
#6
Sandra Torres, Nuria Matías, Anna Baulies, Susana Nuñez, Cristina Alarcon-Vila, Laura Martinez, Natalia Nuño, Anna Fernandez, Joan Caballeria, Thierry Levade, Alba Gonzalez-Franquesa, Pablo Garcia-Rovés, Elisa Balboa, Silvana Zanlungo, Gemma Fabrías, Josefina Casas, Carlos Enrich, Carmen Garcia-Ruiz, José C Fernández-Checa
Niemann Pick type C (NPC) disease is a progressive lysosomal storage disorder caused by mutations in genes encoding NPC1/NPC2 proteins, characterized by neurological defects, hepatosplenomegaly and premature death. While the primary biochemical feature of NPC disease is the intracellular accumulation of cholesterol and gangliosides, predominantly in endolysosomes, mitochondrial cholesterol accumulation has also been reported. As accumulation of cholesterol in mitochondria is known to impair the transport of GSH into mitochondria, resulting in mitochondrial GSH (mGSH) depletion, we investigated the impact of mGSH recovery in NPC disease...
November 20, 2016: Redox Biology
https://www.readbyqxmd.com/read/27884455/-acid-sphingomyelinase-deficiency-niemann-pick-disease-type-b-in-adulthood-a-retrospective-multicentric-study-of-28%C3%A2-adult-cases
#7
O Lidove, N Belmatoug, R Froissart, C Lavigne, I Durieu, K Mazodier, C Serratrice, C Douillard, C Goizet, P Cathebras, G Besson, Z Amoura, A Tazi, M Gatfossé, S Rivière, T Sené, M T Vanier, J-M Ziza
INTRODUCTION: Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease with a clinical spectrum ranging from a neurovisceral infantile form (Niemann-Pick disease type A) to a chronic visceral form also encountered in adults (Niemann-Pick disease type B, NP-B). METHODS: Retrospective multicentric analysis of French adult patients with ASMD over the period 1985-March 2015. Clinical, biological, and imaging data were analyzed. RESULTS: Twenty-eight patients (19 males, 9 females) were analyzed...
November 22, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27877888/lysosomal-ph-inducible-supramolecular-dissociation-of-polyrotaxanes-possessing-acid-labile-n-triphenylmethyl-end-groups-and-their-therapeutic-potential-for-niemann-pick-type-c-disease
#8
Atsushi Tamura, Kei Nishida, Nobuhiko Yui
Niemann-Pick type C (NPC) disease is characterized by the accumulation of cholesterol in lysosomes. We have previously reported that biocleavable polyrotaxanes (PRXs) composed of β-cyclodextrins (β-CDs) threaded onto a linear polymer capped with bulky stopper molecules via intracellularly cleavable linkers show remarkable cholesterol reducing effects in NPC disease patient-derived fibroblasts owing to the stimuli-responsive intracellular dissociation of PRXs and subsequent β-CD release from the PRXs. Herein, we describe a series of novel acid-labile 2-(2-hydroxyethoxy)ethyl group-modified PRXs (HEE-PRXs) bearing terminal N-triphenylmethyl (N-Trt) groups as a cleavable component for the treatment of NPC disease...
2016: Science and Technology of Advanced Materials
https://www.readbyqxmd.com/read/27876313/lysosomal-acid-lipase-deficiency-expanding-differential-diagnosis
#9
Vassili Valayannopoulos, Eugen Mengel, Anais Brassier, Gregory Grabowski
The differential diagnoses for metabolic liver diseases may be challenging in clinical settings, which represents a critical issue for disorders such as lysosomal acid lipase deficiency (LAL-D). LAL-D is caused by deficient activity of the LAL enzyme, resulting in the accumulation of cholesteryl esters and triglycerides throughout the body, predominately in the liver, spleen, gastrointestinal tract, and blood vessel walls. LAL-D is a progressive, multi-organ disease with early mortality and significant morbidity characterized by a combination of hepatic dysfunction and dyslipidemia...
November 10, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27865842/decreasing-smpd1-activity-in-beas-2b-bronchial-airway-epithelial-cells-results-in-increased-nrf2-activity-cytokine-synthesis-and-neutrophil-recruitment
#10
Elyse MacFadden-Murphy, Lucie Roussel, Guy Martel, Julie Bérubé, Simon Rousseau
Niemann-Pick disease (NPD) type B is a rare autosomal recessive disease characterized by variable levels of impairment in sphingomyelin phosphodiesterase 1 (SMPD1) activity. Lung involvement is the most important prognostic factor in NPD-B, with recurrent respiratory infections starting in infancy being the major cause of morbidity and mortality. We hypothesized that decreased SMPD1 activity impaired airway epithelium host defense response. SMPD1 activity was reduced using inducible shRNA. Surprisingly, decreasing SMPD1 activity by 50%, resulted in increased neutrophil recruitment, both at baseline and in response to bacterial stimulation...
November 16, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27863736/moberg-picking-up-test-in-patients-with-hand-osteoarthritis
#11
Paula Gabriel Silva, Anamaria Jones, Artur da Rocha Correa Fernandes, Jamil Natour
STUDY DESIGN: Clinical measurement. INTRODUCTION: The Moberg Pick-up Test (MPUT) was previously used to evaluate functional performance in patients with hand inflammatory disease. This is the first study using the MPUT in hand osteoarthritis (OA). PURPOSE OF THE STUDY: Compare the functional performance (MPUT) in hand OA patients and healthy controls. METHODS: Fifty hand OA patients and 50 controls were assessed using the MPUT, AUSCAN and Cochin questionnaires, grip and pinch strength, pain using a visual analog scale and a Likert scale regarding difficulty to perform MPUT...
November 15, 2016: Journal of Hand Therapy: Official Journal of the American Society of Hand Therapists
https://www.readbyqxmd.com/read/27860245/telocytes-a-potential-defender-in-the-spleen-of-npc1-mutant-mice
#12
Bichao Zhang, Ciqing Yang, Liang Qiao, Qiuling Li, Congrui Wang, Xin Yan, Juntang Lin
Niemann-Pick disease, type C1 (Npc1), is an atypical lysosomal storage disorder caused by autosomal recessive inheritance of mutations in Npc1 gene. In the Npc1 mutant mice (Npc1(-/-) ), the initial manifestation is enlarged spleen, concomitant with free cholesterol accumulation. Telocytes (TCs), a novel type of interstitial cell, exist in a variety of tissues including spleen, presumably thought to be involved in many biological processes such as nursing stem cells and recruiting inflammatory cells. In this study, we found that the spleen is significantly enlarged in Npc1(-/-) mice, and the results from transmission electron microscopy examination and immunostaining using three different TCs markers, c-Kit, CD34 and Vimentin revealed significantly increased splenic TCs in Npc1(-/-) mice...
November 18, 2016: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/27853180/piezoelectric-extraction-of-ecg-signal
#13
Mahmoud Al Ahmad
The monitoring and early detection of abnormalities or variations in the cardiac cycle functionality are very critical practices and have significant impact on the prevention of heart diseases and their associated complications. Currently, in the field of biomedical engineering, there is a growing need for devices capable of measuring and monitoring a wide range of cardiac cycle parameters continuously, effectively and on a real-time basis using easily accessible and reusable probes. In this paper, the revolutionary generation and extraction of the corresponding ECG signal using a piezoelectric transducer as alternative for the ECG will be discussed...
November 17, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27834854/pharmacologic-treatment-assigned-for-niemann-pick-type-c1-disease-partly-changes-behavioral-traits-in-wild-type-mice
#14
Victoria Schlegel, Markus Thieme, Carsten Holzmann, Martin Witt, Ulrike Grittner, Arndt Rolfs, Andreas Wree
Niemann-Pick Type C1 (NPC1) is an autosomal recessive inherited disorder characterized by accumulation of cholesterol and glycosphingolipids. Previously, we demonstrated that BALB/c-npc1(nih)Npc1(-/-) mice treated with miglustat, cyclodextrin and allopregnanolone generally performed better than untreated Npc1(-/-) animals. Unexpectedly, they also seemed to accomplish motor tests better than their sham-treated wild-type littermates. However, combination-treated mutant mice displayed worse cognition performance compared to sham-treated ones...
November 9, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27832036/factors-associated-with-the-lack-of-access-to-cervical-cancer-screening-test-results-in-the-brazilian-unified-health-system-network-in-the-municipality-of-rio-de-janeiro
#15
Luís Felipe L Martins, Liz Maria de Almeida, André S Szklo, Moyses Szklo, Luiz Claudio S Thuler, Maria de Fátima G Enes, Rejane S Pinheiro, Cláudia M Coeli
Papanicolaou test screening remains an effective approach for the control of cervical cancer. However, for successful control of the disease, patients need to have access to the test results and complete the treatment. The aim of this study was to investigate the factors associated with lack of access to results from the most recent Papanicolaou test in women living in the municipality of Rio de Janeiro who used the Brazilian Unified Health System. Overall prevalence of lack of access to test results was 18...
November 9, 2016: European Journal of Cancer Prevention
https://www.readbyqxmd.com/read/27822170/proteomics-in-india-the-clinical-aspect
#16
REVIEW
Somaditya Mukherjee, Arun Bandyopadhyay
Proteomics has emerged as a highly promising bioanalytical technique in various aspects of applied biological research. In Indian academia, proteomics research has grown remarkably over the last decade. It is being extensively used for both basic as well as translation research in the areas of infectious and immune disorders, reproductive disorders, cardiovascular diseases, diabetes, eye disorders, human cancers and hematological disorders. Recently, some seminal works on clinical proteomics have been reported from several laboratories across India...
2016: Clinical Proteomics
https://www.readbyqxmd.com/read/27816810/prevention-of-oxldl-uptake-leads-to-decreased-atherosclerosis-in-hematopoietic-npc1-deficient-ldlr-mice
#17
Mike L J Jeurissen, Sofie M A Walenbergh, Tom Houben, Marion J J Gijbels, Jieyi Li, Tim Hendrikx, Yvonne Oligschlaeger, Patrick J van Gorp, Christoph J Binder, Marjo M P C Donners, Ronit Shiri-Sverdlov
BACKGROUND AND AIMS: Atherosclerosis is a chronic inflammatory disease of medium and large vessels and is typically characterized by the predominant accumulation of low-density lipoprotein (LDL)-cholesterol inside macrophages that reside in the vessel walls. Previous studies clearly demonstrated an association specifically between the oxidized type of LDL (oxLDL) and atherosclerotic lesion formation. Further observations revealed that these atherosclerotic lesions displayed enlarged, lipid-loaded lysosomes...
October 20, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/27814975/smpd1-variants-in-chinese-han-patients-with-sporadic-parkinson-s-disease
#18
Cheng-Yuan Mao, Jing Yang, Hui Wang, Shu-Yu Zhang, Zhi-Hua Yang, Hai-Yang Luo, Fang Li, Mengmeng Shi, Yu-Tao Liu, Zheng-Ping Zhuang, Pan Du, Yao-He Wang, Chang-He Shi, Yu-Ming Xu
INTRODUCTION: A founder mutation, p.L302P, in sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), causing Niemann-Pick disease, a recessive lysosomal storage disorder, was reported to be associated with increased risk of Parkinson's disease (PD) in Ashkenazi Jewish population. Several other studies about the association between SMPD1 variants and PD were performed afterward in other populations. However, the results on the role of SMPD1 mutations for PD have been conflicting. This study aimed to investigate the role of mutations in SMPD1 in Chinese PD patients...
October 19, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27798705/defective-autophagy-mitochondrial-clearance-and-lipophagy-in-niemann-pick-type-b-lymphocytes
#19
Barbara Canonico, Erica Cesarini, Sara Salucci, Francesca Luchetti, Elisabetta Falcieri, Gianna Di Sario, Fulvio Palma, Stefano Papa
Niemann-Pick disease type A (NP-A) and type B (NP-B) are lysosomal storage diseases (LSDs) caused by sphingomyelin accumulation in lysosomes relying on reduced or absent acid sphingomyelinase. A considerable body of evidence suggests that lysosomal storage in many LSD impairs autophagy, resulting in the accumulation of poly-ubiquitinated proteins and dysfunctional mitochondria, ultimately leading to cell death. Here we test this hypothesis in a cellular model of Niemann-Pick disease type B, in which autophagy has never been studied...
2016: PloS One
https://www.readbyqxmd.com/read/27798114/systemic-aav9-gene-therapy-improves-the-lifespan-of-mice-with-niemann-pick-disease-type-c1
#20
Randy J Chandler, Ian M Williams, Alana L Gibson, Cristin D Davidson, Arturo A Incao, Brandon T Hubbard, Forbes D Porter, William J Pavan, Charles P Venditti
Niemann-Pick disease, type C1 (NPC1) is a heritable lysosomal storage disease characterized by a progressive neurological degeneration that causes disability and premature death. A murine model of NPC1 disease (Npc1(-/-)) displays a rapidly progressing form of NPC1 disease which is characterized by weight loss, ataxia, increased cholesterol storage, loss of cerebellar Purkinje neurons and early lethality. To test the potential efficacy of gene therapy for NPC1, we constructed adeno-associated virus serotype 9 (AAV9) vectors to deliver the NPC1 gene under the transcriptional control of the neuronal-specific (CamKII) or a ubiquitous (EF1a) promoter...
October 25, 2016: Human Molecular Genetics
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