keyword
MENU ▼
Read by QxMD icon Read
search

Pick's Disease

keyword
https://www.readbyqxmd.com/read/28728811/newborn-screening-for-lysosomal-storage-disorders-in-illinois-the-initial-15-month-experience
#1
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/28724913/time-averaged-disease-activity-fits-better-joint-destruction-in-rheumatoid-arthritis
#2
Hideaki Tsuji, Koichiro Yano, Moritoshi Furu, Noriyuki Yamakawa, Katsunori Ikari, Motomu Hashimoto, Hiromu Ito, Takao Fujii, Wataru Yamamoto, Koichiro Ohmura, Atsuo Taniguchi, Shigeki Momohara, Fumihiko Matsuda, Cornelia F Allaart, Hisashi Yamanaka, Tsuneyo Mimori, Chikashi Terao
Disease activity of rheumatoid arthritis (RA), evaluated as Disease Activity Score (DAS), is associated with joint destruction. Since joint destruction reflects the history of disease activities, we hypothesized that time-averaged disease activity would better correlate with joint destruction than one-time disease activity. We recruited RA patients in IORRA (n = 557) and KURAMA (n = 204) cohorts, and calculated time-averaged DAS28 to model a modified Sharp/van der Heijde score (SHS). We evaluated the fitting of the model using time-averaged DAS28 among 1000 models in which we randomly picked up one-time DAS28...
July 19, 2017: Scientific Reports
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
#3
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/28715377/creation-of-cardiac-tissue-exhibiting-mechanical-integration-of-spheroids-using-3d-bioprinting
#4
Chin Siang Ong, Takuma Fukunishi, Andrew Nashed, Adriana Blazeski, Huaitao Zhang, Samantha Hardy, Deborah DiSilvestre, Luca Vricella, John Conte, Leslie Tung, Gordon Tomaselli, Narutoshi Hibino
This protocol describes 3D bioprinting of cardiac tissue without the use of biomaterials, using only cells. Cardiomyocytes, endothelial cells and fibroblasts are first isolated, counted and mixed at desired cell ratios. They are co-cultured in individual wells in ultra-low attachment 96-well plates. Within 3 days, beating spheroids form. These spheroids are then picked up by a nozzle using vacuum suction and assembled on a needle array using a 3D bioprinter. The spheroids are then allowed to fuse on the needle array...
July 2, 2017: Journal of Visualized Experiments: JoVE
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
#5
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/28704965/progress-evaluation-for-the-restaurant-industry-assessed-by-a-voluntary-marketing-mix-and-choice-architecture-framework-that-offers-strategies-to-nudge-american-customers-toward-healthy-food-environments-2006-2017
#6
Vivica Kraak, Tessa Englund, Sarah Misyak, Elena Serrano
Consumption of restaurant food and beverage products high in fat, sugar and sodium contribute to obesity and non-communicable diseases. We evaluated restaurant-sector progress to promote healthy food environments for Americans. We conducted a desk review of seven electronic databases (January 2006-January 2017) to examine restaurant strategies used to promote healthful options in the United States (U.S.). Evidence selection (n = 84) was guided by the LEAD principles (i.e., locate, evaluate, and assemble evidence to inform decisions) and verified by data and investigator triangulation...
July 12, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28697173/modulating-cancer-cell-survival-by-targeting-intracellular-cholesterol-transport
#7
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...
July 11, 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
#8
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
https://www.readbyqxmd.com/read/28691164/pick-s-disease-with-neuronal-four-repeat-tau-accumulation-in-the-basal-ganglia-brain-stem-nuclei-and-cerebellum
#9
Chikako Ikeda, Osamu Yokota, Tomoko Miki, Shintaro Takenoshita, Hideki Ishizu, Yoko Mori, Kiyohiro Yamazaki, Yuki Ozaki, Shu-Ichi Ueno, Takeshi Ishihara, Masato Hasegawa, Seishi Terada, Norihito Yamada
It is very rare that cases of Pick's disease, a representative three-repeat (3R) tauopathy, also have significant four-repeat (4R) tau accumulation. Here, we report a Pick's disease case that clinically showed behavioral variant frontotemporal dementia without motor disturbance during the course, and pathologically had 3R tau-positive Pick bodies as well as numerous 4R tau-positive neuronal cytoplasmic inclusions (NCIs). Abundant 3R tau-positive 4R tau-negative spherical or horseshoe-shaped Pick bodies were found in the frontotemporal cortex, limbic region, striatum and pontine nucleus...
July 9, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28689841/biologic-therapy-and-novel-molecular-targets-of-severe-asthma
#10
Amber N Pepper, Harald Renz, Thomas B Casale, Holger Garn
Treatment options for severe or uncontrolled asthma are increasing, especially pertaining to novel biologic therapies. The 2 primary asthma endotypes, T2 high and T2 low, are defined by the level of type 2 T helper and innate lymphoid cell activity and mediators. Most therapies for severe asthma target T2 high asthma, including the 3 biologics approved for use in the United States and Europe: omalizumb, mepolizumb, and reslizumab. Other biologics, with various molecular targets, are under investigation. Unfortunately, treatment options for T2 low asthma are limited...
July 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28687233/overview-of-immune-abnormalities-in-lysosomal-storage-disorders
#11
REVIEW
Donato Rigante, Clelia Cipolla, Umberto Basile, Francesca Gulli, Maria Cristina Savastano
The critical relevance of the lysosomal compartment for normal cellular function can be proved by numbering the clinical phenotypes that arise in lysosomal storage disorders (LSDs), a group of around 70 different monogenic autosomal or X-linked syndromes, caused by specific lysosomal enzyme deficiencies: all LSDs are characterized by progressive accumulation of heterogeneous biologic materials in the lysosomes of various parts of the body such as viscera, skeleton, skin, heart, and central nervous system. At least a fraction of LSDs has been associated with mixed abnormalities involving the immune system, while some patients with LSDs may result more prone to autoimmune phenomena...
July 4, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28685505/expanded-carrier-screening-for-monogenic-disorders-where-are-we-now
#12
Davit Chokoshvili, Danya Vears, Pascal Borry
BACKGROUND: Expanded carrier screening (ECS), which can identify carriers of a large number of recessive disorders in the general population, has grown in popularity and is now widely accessible to prospective parents. This article presents a comprehensive overview of the characteristics of currently available ECS tests. METHODS: To identify relevant ECS providers, we employed a multi-step approach, which included online searching, review of the recent literature, and consultations with researchers familiar with the current landscape of ECS...
July 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28678158/early-hippocampal-i-ltp-and-lox-1-overexpression-induced-by-anoxia-a-potential-role-in-neurodegeneration-in-npc-mouse-model
#13
Adriana Lo Castro, Michela Murdocca, Sabina Pucci, Anna Zaratti, Chiara Greggi, Federica Sangiuolo, Virginia Tancredi, Claudio Frank, Giovanna D'Arcangelo
Niemann-Pick type C disease (NPCD) is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endo-lysosomal compartment of cells. In the central nervous system, hypoxic insults could result in low-density lipoprotein (LDL) oxidation and Lectin-like oxidized LDL receptor-1 (LOX-1) induction, leading to a pathological hippocampal response, namely, ischemic long-term potentiation (i-LTP). These events may correlate with the progressive neural loss observed in NPCD...
July 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28677886/dogs-on-livestock-farms-a-cross-sectional-study-investigating-potential-roles-in-zoonotic-pathogen-transmission
#14
N E Moran, A K Ferketich, T E Wittum, J W Stull
Dogs are often present on livestock farms, where they serve important management and companion roles, yet may be involved in zoonotic pathogen transmission. Numerous factors can potentially alter the risk of exposure to zoonotic pathogens, such as the dog's access to livestock, close dog-human contact and an increasing immunocompromised human population. The objective of this study was to quantify and qualify dog ownership among livestock owners, their dog husbandry and biosecurity practices, the dogs' access to livestock and potential risks for zoonotic pathogen transmission...
July 5, 2017: Zoonoses and Public Health
https://www.readbyqxmd.com/read/28666962/decreased-calcium-flux-in-niemann-pick-type-c1-patient-specific-ipsc-derived-neurons-due-to-higher-amount-of-calcium-impermeable-ampa-receptors
#15
Michael Rabenstein, Franziska Peter, Sarah Joost, Michaela Trilck, Arndt Rolfs, Moritz J Frech
Niemann-Pick disease type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene, resulting mainly in the accumulation of cholesterol and the ganglioside GM2. Recently, we described accumulations of these lipids in neuronal differentiated cells derived from NPC1 patient-specific induced pluripotent stem cells (iPSCs). As these lipids are essential for proper cell membrane composition, we were interested in the expression and function of voltage-gated ion channels and excitatory AMPA receptors (AMPARs) in neurons derived from three patient-specific iPSC lines...
June 27, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28665212/icam-1-targeting-intracellular-trafficking-and-functional-activity-of-polymer-nanocarriers-coated-with-a-fibrinogen-derived-peptide-for-lysosomal-enzyme-replacement
#16
Carmen Garnacho, Silvia Muro
Enzyme replacement is a viable treatment for diseases caused by genetic deficiency of lysosomal enzymes. However, suboptimal access of enzymes to target sites limits this strategy. Polymer nanocarriers (NCs) coated with antibody against intercellular adhesion molecule 1 (ICAM-1), a protein overexpressed on most cells under disease states, enhanced biosdistribution and lysosomal delivery of these therapeutics. Whether this can be achieved using more biocompatible ICAM-1-targeting moieties is unknown, since intracellular uptake via this route is sensitive to the receptor epitope being targeted...
June 30, 2017: Journal of Drug Targeting
https://www.readbyqxmd.com/read/28662611/cognition-and-anatomy-of-adult-niemann-pick-disease-type-c-insights-for-the-alzheimer-field
#17
David Bergeron, Stéphane Poulin, Robert Laforce
Niemann-Pick disease type C (NPC) is a rare lysosomal storage disorder causing an intracellular lipid trafficking defect and varying damage to the spleen, liver, and central nervous system. The adult form, representing approximately 20% of the cases, is associated with progressive cognitive decline. Intriguingly, brains of adult NPC patients exhibit neurofibrillary tangles, a characteristic hallmark of Alzheimer's disease (AD). However, the cognitive, psychiatric, and neuropathological features of adult NPC and their relation to AD have yet to be explored...
June 30, 2017: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/28631941/analytical-characterization-of-methyl-%C3%AE-cyclodextrin-for-pharmacological-activity-to-reduce-lysosomal-cholesterol-accumulation-in-niemann-pick-disease-type-c1-cells
#18
Rong Li, Jon Hao, Hideji Fujiwara, Miao Xu, Shu Yang, Sheng Dai, Yan Long, Manju Swaroop, Changhui Li, Mylinh Vu, Juan J Marugan, Daniel S Ory, Wei Zheng
Methyl-β-cyclodextrin (MβCD) reduces lysosomal cholesterol accumulation in Niemann-Pick disease type C1 (NPC1) patient fibroblasts. However, the pharmacological activity of MβCD reported by different laboratories varies. To determine the potential causes of this variation, we analyzed the mass spectrum characteristics, pharmacological activity of three preparations of MβCDs, and the protein expression profiles of NPC1 patient fibroblasts after treatment with different sources of MβCDs. Our data revealed varied mass spectrum profiles and pharmacological activities on the reduction of lysosomal cholesterol accumulation in NPC1 fibroblasts for these three preparations of MβCDs obtained from different batches and different sources...
May 2017: Assay and Drug Development Technologies
https://www.readbyqxmd.com/read/28628618/solving-the-influence-maximization-problem-reveals-regulatory-organization-of-the-yeast-cell-cycle
#19
David L Gibbs, Ilya Shmulevich
The Influence Maximization Problem (IMP) aims to discover the set of nodes with the greatest influence on network dynamics. The problem has previously been applied in epidemiology and social network analysis. Here, we demonstrate the application to cell cycle regulatory network analysis for Saccharomyces cerevisiae. Fundamentally, gene regulation is linked to the flow of information. Therefore, our implementation of the IMP was framed as an information theoretic problem using network diffusion. Utilizing more than 26,000 regulatory edges from YeastMine, gene expression dynamics were encoded as edge weights using time lagged transfer entropy, a method for quantifying information transfer between variables...
June 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28628327/impact-of-the-niemann-pick-c1-gene-mutation-on-the-total-cellular-glycomics-of-cho-cells
#20
Jun-Ichi Furukawa, Minami Soga, Kazue Okada, Ikuko Yokota, Jinhua Piao, Tetsumi Irie, Takumi Era, Yasuro Shinohara
Niemann-Pick disease type C (NPC) is an autosomal recessive lipid storage disorder, and the majority of cases are caused by mutations in the NPC1 gene. In this study, we clarified how a single gene mutation in the NPC1 gene impacts the cellular glycome by analyzing the total glycomic expression profile of Chinese hamster ovary cell mutants defective in the Npc1 gene (Npc1 KO CHO cells). A number of glycomic alterations were identified, including increased expression of lactosylceramide, GM1, GM2, GD1, various neolacto-series glycosphingolipids, and sialyl-T (O-glycan), which was found to be the major sialylated protein-bound glycan, as well as various N-glycans, which were commonly both fucosylated and sialylated...
June 19, 2017: Journal of Proteome Research
keyword
keyword
48459
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"