keyword
MENU ▼
Read by QxMD icon Read
search

Storage disease

keyword
https://www.readbyqxmd.com/read/28944920/periodic-acid%C3%A2-schiff-staining-method-for-function-detection-of-liver-cells-is-affected-by-2-horse-serum-in-induction-medium
#1
Hui Hui, Wenjun Ma, Jiejie Cui, Mengjia Gong, Yi Wang, Yuanyuan Zhang, Tongchuan He, Yang Bi, Yun He
Developing a thorough understanding of experimental methods of hepatic differentiation in hepatic progenitor cells (HPCs) should expand the knowledge of hepatocyte induction in vitro and may help to develop cell transplantation therapies for the clinical usage of HPCs in liver diseases. A previous induction method effectively induced differentiation and metabolic abilities in HPCs. Periodic acid‑Schiff (PAS) staining is used to identify glycogen synthesis and hepatocyte function; however, this method failed to detect induced hepatocytes...
September 22, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28944282/progranulin-acts-as-a-shared-chaperone-and-regulates-multiple-lysosomal-enzymes
#2
Jinlong Jian, Aubryanna Hettinghouse, Chuan-Ju Liu
Multifunctional factor progranulin (PGRN) plays an important role in lysosomes, and its mutations and insufficiency are associated with lysosomal storage diseases, including neuronal ceroid lipofuscinosis and Gaucher disease (GD). The first breakthrough in understanding the molecular mechanisms of PGRN as regulator of lysosomal storage diseases came unexpectedly while investigating the role of PGRN in inflammation. Challenged PGRN null mice displayed typical features of GD. In addition, GRN gene variants were identified in GD patients and the serum levels of PGRN were significantly lower in GD patients...
September 2017: Genes & Diseases
https://www.readbyqxmd.com/read/28943393/regulation-of-spine-structural-plasticity-by-arc-arg3-1
#3
REVIEW
Thomas M Newpher, Scott Harris, Jasmine Pringle, Colleen Hamilton, Scott Soderling
Dendritic spines are actin-rich, postsynaptic protrusions that contact presynaptic terminals to form excitatory chemical synapses. These synaptic contacts are widely believed to be the sites of memory formation and information storage, and changes in spine shape are thought to underlie several forms of learning-related plasticity. Both membrane trafficking pathways and the actin cytoskeleton drive activity-dependent structural and functional changes in dendritic spines. A key molecular player in regulating these processes is the activity-regulated cytoskeleton-associated protein (Arc), a protein that has diverse roles in expression of synaptic plasticity...
September 21, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28943383/identification-of-fabry-disease-in-a-tertiary-referral-cohort-of-patients-with-hypertrophic-cardiomyopathy
#4
Martin S Maron, Winnie Xin, Katherine B Sims, Rita Butler, Tammy S Haas, Ethan J Rowin, Robert J Desnick, Barry J Maron
BACKGROUND: Fabry Disease is a X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase A due to mutations in the GLA gene, which may be associated with increased left ventricular wall thickness, and mimic the morphologic features of hypertrophic cardiomyopathy. Management strategies for these two diseases diverge, with Fabry disease-specific treatment utilizing recombinant α-galactosidase A enzyme replacement therapy. METHODS: We studied a prospectively assembled consecutive cohort of 585 patients (71% male) from two hypertrophic cardiomyopathy tertiary referral centers by screening for low α-galactosidase A activity in dried blood spots...
September 21, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28942551/androgen-excess-and-metabolic-disorders-in-women-with-pcos-beyond-the-body-mass-index
#5
REVIEW
R A Condorelli, A E Calogero, M Di Mauro, L M Mongioi', R Cannarella, G Rosta, S La Vignera
BACKGROUND: Insulin resistance is a common feature among women with polycystic ovary syndrome (PCOS), especially in those patients with hyperandrogenism and chronic anovulation. PCOS women are at risk for developing metabolic syndrome, impaired glucose tolerance and type II diabetes mellitus (DM II). OBJECTIVE: The aim of this review is to explore the existing knowledge of the interplay between androgen excess, pancreatic β-cell function, non-alcoholic fatty liver disease (NAFLD), intra-abdominal and subcutaneous (SC) abdominal adipocytes in PCOS, providing a better comprehension of the molecular mechanisms of diabetologic interest...
September 23, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28941773/exploring-the-associations-between-parent-reported-biological-indoor-environment-and-airway-related-symptoms-and-allergic-diseases-in-children
#6
Alisa Weber, Nina Fuchs, Susanne Kutzora, Lana Hendrowarsito, Uta Nennstiel-Ratzel, Erika von Mutius, Caroline Herr, Stefanie Heinze
OBJECTIVES: Asthma and allergic rhinitis are diseases which require special attention in childhood. Risk factors for these diseases are manifold and include environmental factors. Previous studies have shown associations between indoor mould and respiratory diseases in children. Besides indoor mould, organic waste storage, potted plants, pets and crowding could influence the microbial indoor environment at home and the respiratory health of children. Our aim was therefore to explore the associations of these factors with airway-related symptoms and respiratory diseases in preschoolers...
September 6, 2017: International Journal of Hygiene and Environmental Health
https://www.readbyqxmd.com/read/28940437/analysis-of-argonaute-2-microrna-complexes-in-ex-vivo-stored-red-blood-cells
#7
Long Vu, Viswanath Ragupathy, Sandhya Kulkarni, Chintamani Atreya
BACKGROUND: Human enucleated mature red blood cells (RBCs) contain both mature microRNAs (miRNAs) and mRNAs, and we have previously correlated RBC storage lesion processes such as eryptosis, adenosine 5'-triphosphate loss, and RBC indices with differentially expressed miRNAs. Here we have characterized Argonaute 2 (AGO2)-miRNA complexes in stored mature RBCs as a first step toward understanding their role, if any. STUDY DESIGN AND METHODS: In this report AGO2-bound miRNAs in mature RBCs isolated from RBCs collected from three different healthy donors and stored for 24 hours at 4 to 6°C were identified by anti-AGO2 immunoprecipitation (IP) followed by next-generation sequencing of the RNA isolated from the IP...
September 20, 2017: Transfusion
https://www.readbyqxmd.com/read/28939830/lack-of-nlrp3-inflammasome-leads-to-gut-liver-axis-derangement-gut-dysbiosis-and-a-worsened-phenotype-in-a-mouse-model-of-nafld
#8
Pierantonelli Irene, Rychlicki Chiara, Agostinelli Laura, Giordano Debora Maria, Gaggini Melania, Fraumene Cristina, Saponaro Chiara, Manghina Valeria, Sartini Loris, Mingarelli Eleonora, Pinto Claudio, Buzzigoli Emma, Trozzi Luciano, Giordano Antonio, Marzioni Marco, De Minicis Samuele, Uzzau Sergio, Cinti Saverio, Amalia Gastalderi, Svegliati-Baroni Gianluca
Non-Alcoholic Fatty Liver Disease (NAFLD) represents the most common form of chronic liver injury and can progress to cirrhosis and hepatocellular carcinoma. A "multi-hit" theory, involving high fat diet and signals from the gut-liver axis, has been hypothesized. The role of the NLRP3-inflammasome, which senses dangerous signals, is controversial. Nlrp3(-/-) and wild-type mice were fed a Western-lifestyle diet with fructose in drinking water (HFHC) or a chow diet. Nlrp3(-/-)-HFHC showed higher hepatic expression of PPAR γ2 (that regulates lipid uptake and storage) and triglyceride content, histological score of liver injury and greater adipose tissue inflammation...
September 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28937829/nonlinearity-coherence-and-complexity-biophysical-aspects-related-to-health-and-disease
#9
Alberto Foletti, Larissa Brizhik
Biological organisms are complex open dissipative systems whose dynamical stability is sustained due to the exchange of matter, energy and information. Dynamical stability occurs through a number of mechanisms that sustain efficient adaptive dynamics. Such properties of living matter can be the consequence of a self-consistent state of matter and electromagnetic field (EMF). Based on the soliton model of charge transport in redox processes, we describe a possible mechanism of the origin of endogenous EMF and coherence...
September 22, 2017: Electromagnetic Biology and Medicine
https://www.readbyqxmd.com/read/28937487/focal-hepatic-glycogenosis-in-a-patient-with-uncontrolled-diabetes-mellitus-type-1
#10
Tetiana Glushko, Sergiy V Kushchayev, Dmitry Trifanov, Aliaksei Salei, Diego Morales, Gerard Berry, Justin Mackey, Oleg M Teytelboym
Hepatomegaly and elevated liver enzymes in patients with diabetes are commonly associated with fatty liver disease. However, physicians often forget about another intrinsic substance that can cause a similar clinical picture-glycogen. Liver stores approximately one third of the total body glycogen and is responsible for blood glucose homeostasis. Excessive hepatocellular glycogen accumulation occurs not only in congenital glycogen storage diseases, but also in acquired conditions associated with hyperglycemic-hyperinsulinemic states such as uncontrolled diabetes mellitus, high-dose corticosteroid use, and dumping syndrome...
September 20, 2017: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/28937083/infantile-cystinosis-from-dialysis-to-renal-transplantation
#11
Manel Jellouli, Meriem Ferjani, Kamel Abidi, Chokri Zarrouk, Jaouida Abdelmoula, Tahar Gargah
Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra-renal manifestations. In this report, we present the first case of transplanted nephropathic cystinosis in a Tunisian child. A 4-year-old Tunisian boy born to nonconsanguineous parents, was treated in our medical services in 1990 for cystinosis. Since the age of five months, he developed symptoms of severe weight loss, vomiting, dehydration, and polyuria...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28936896/fat-fraction-mapping-using-magnetic-resonance-imaging-insight-into-pathophysiology
#12
Timothy J P Bray, Manil D Chouhan, Shonit Punwani, Alan Bainbridge, Margaret A Hall-Craggs
Adipose cells have traditionally been viewed as a simple, passive energy storage depot for triglycerides. However, in recent years it has become clear that adipose cells are highly physiologically active and have a multitude of endocrine, metabolic, haematological and immune functions. Changes in the number or size of adipose cells may be directly implicated in disease (for example, in the metabolic syndrome), but may also be linked to other pathological processes such as inflammation, malignant infiltration or infarction...
September 22, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28933701/a-cross-sectional-descriptive-study-of-medication-use-among-persons-with-a-gastrointestinal-stoma
#13
Bianca Augusta Pereira de Paula, Geisa Cristina da Silva Alves, Álvaro PercÍnio, Mariana Linhares Pereira, Juliano Teixeira Moraes, Cristina Sanches
Research on the use of medications in people with intestinal stomas is lacking, creating gaps in knowledge of pharmacoepidemiology in these patients. A cross-sectional, descriptive study was conducted over a period of 4 months in Divinópolis, Brazil to describe the profile of medication use among people enrolled in the Health Support Service for People with Stoma - Level II (SSPS II) of a municipality in the state of Minas Gerais, Brazil. All patients from SSPS II with a colostomy or ileostomy were invited by phone to participate; those with incomplete registration data and/or who were <18 years old, hospitalized for any reason, or had their stoma reversed were excluded from participation...
September 2017: Ostomy/wound Management
https://www.readbyqxmd.com/read/28933418/biomarkers-in-lysosomal-storage-diseases
#14
REVIEW
Joaquin Bobillo Lobato, Maria Jiménez Hidalgo, Luis M Jiménez Jiménez
A biomarker is generally an analyte that indicates the presence and/or extent of a biological process, which is in itself usually directly linked to the clinical manifestations and outcome of a particular disease. The biomarkers in the field of lysosomal storage diseases (LSDs) have particular relevance where spectacular therapeutic initiatives have been achieved, most notably with the introduction of enzyme replacement therapy (ERT). There are two main types of biomarkers. The first group is comprised of those molecules whose accumulation is directly enhanced as a result of defective lysosomal function...
December 17, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933412/genetic-substrate-reduction-therapy-a-promising-approach-for-lysosomal-storage-disorders
#15
REVIEW
Maria Francisca Coutinho, Juliana Inês Santos, Liliana Matos, Sandra Alves
Lysosomal storage diseases are a group of rare genetic disorders characterized by the accumulation of storage molecules in late endosomes/lysosomes. Most of them result from mutations in genes encoding for the catabolic enzymes that ensure intralysosomal digestion. Conventional therapeutic options include enzyme replacement therapy, an approach targeting the functional loss of the enzyme by injection of a recombinant one. Even though this is successful for some diseases, it is mostly effective for peripheral manifestations and has no impact on neuropathology...
November 9, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933411/mitochondrial-dysfunction-in-lysosomal-storage-disorders
#16
REVIEW
Mario de la Mata, David Cotán, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M Suárez-Rivero, Gustavo Tiscornia, Manuel Oropesa-Ávila
Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of lysosomal hydrolases or transporters, resulting in the progressive accumulation of undigested material in lysosomes. The accumulation of substances affects the function of lysosomes and other organelles, resulting in secondary alterations such as impairment of autophagy, mitochondrial dysfunction, inflammation and apoptosis. LSDs frequently involve the central nervous system (CNS), where neuronal dysfunction or loss results in progressive neurodegeneration and premature death...
October 11, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933368/biomarkers-and-imaging-findings-of-anderson-fabry-disease-what-we-know-now
#17
REVIEW
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus...
June 11, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28933363/the-spectrum-of-neurological-manifestations-associated-with-gaucher-disease
#18
REVIEW
Tamanna Roshan Lal, Ellen Sidransky
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Phenotypically, there is a wide spectrum of visceral and neurological manifestations...
March 2, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28933361/lysosomal-storage-disorders-and-malignancy
#19
REVIEW
Gregory M Pastores, Derralynn A Hughes
Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the most common LSD, with an estimated incidence of 1 in 40,000 among the Caucasian, non-Jewish population. Studies have indicated an increased frequency of polyclonal and monoclonal gammopathy among patients with GD. It has been shown that two major sphingolipids that accumulate in GD, namely, β-glucosylceramide 22:0 (βGL1-22) and glucosylsphingosine (LGL1), can be recognized by a distinct subset of CD1d-restricted human and murine type II natural killer T (NKT) cells...
February 27, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28933359/a-prospective-treatment-option-for-lysosomal-storage-diseases-crispr-cas9-gene-editing-technology-for-mutation-correction-in-induced-pluripotent-stem-cells
#20
REVIEW
Chloe L Christensen, Francis Y M Choy
Ease of design, relatively low cost and a multitude of gene-altering capabilities have all led to the adoption of the sophisticated and yet simple gene editing system: clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9). The CRISPR/Cas9 system holds promise for the correction of deleterious mutations by taking advantage of the homology directed repair pathway and by supplying a correction template to the affected patient's cells. Currently, this technique is being applied in vitro in human-induced pluripotent stem cells (iPSCs) to correct a variety of severe genetic diseases, but has not as of yet been used in iPSCs derived from patients affected with a lysosomal storage disease (LSD)...
February 24, 2017: Diseases (Basel)
keyword
keyword
78547
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"